From e6b1e40feaa77612443b3b6b0e3158941cf4fd72 Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Fri, 14 Jun 2024 09:56:24 +0200 Subject: [PATCH] fix: noodles and other deps (#378) --- .github/dependabot.yml | 3 + Cargo.lock | 1934 +++++++---- Cargo.toml | 18 +- protos/varfish/v1/clinvar.proto | 2 + .../varfish/v1/query_seqvars.proto | 0 src/common/mod.rs | 55 +- src/common/noodles.rs | 42 +- src/seqvars/aggregate/mod.rs | 81 +- src/seqvars/ingest/header.rs | 68 +- src/seqvars/ingest/mod.rs | 182 +- ...test__result_snapshot_test@Case_1_vcf.snap | 46 +- ...sult_snapshot_test@NA12878_dragen_vcf.snap | 144 +- ...@example_dragen_07_021_624_3_10_4_vcf.snap | 2 +- ...@example_dragen_07_021_624_3_10_9_vcf.snap | 2 +- ...apshot_test@example_gatk_hc_3_7-0_vcf.snap | 2 +- ...shot_test@example_gatk_hc_4_4_0_0_vcf.snap | 2 +- ...ingest__test__result_snapshot_test_gz.snap | 1093 +++--- ..._snapshot_test_with_id_map@Case_1_vcf.snap | 46 +- ...t_test_with_id_map@NA12878_dragen_vcf.snap | 144 +- src/seqvars/prefilter/mod.rs | 137 +- ...s__prefilter__test__single_output_arg.snap | 4 +- ...__prefilter__test__single_output_file.snap | 4 +- ...rs__prefilter__test__two_output_arg-2.snap | 2 +- ...vars__prefilter__test__two_output_arg.snap | 4 +- src/seqvars/query/annonars.rs | 5 +- src/seqvars/query/interpreter/clinvar.rs | 85 +- src/seqvars/query/interpreter/frequency.rs | 1 + src/seqvars/query/interpreter/genotype.rs | 32 +- src/seqvars/query/interpreter/quality.rs | 12 +- src/seqvars/query/mod.rs | 24 +- src/seqvars/query/output/call_related.rs | 8 +- src/seqvars/query/output/variant_related.rs | 119 +- src/seqvars/query/schema.rs | 127 +- ...riant_from_vcf@Case_1.ingested.vcf-10.snap | 6 +- ...riant_from_vcf@Case_1.ingested.vcf-11.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-12.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-13.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-14.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-15.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-16.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-17.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-18.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-19.snap | 7 +- ...ariant_from_vcf@Case_1.ingested.vcf-2.snap | 6 +- ...riant_from_vcf@Case_1.ingested.vcf-20.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-21.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-22.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-23.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-24.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-25.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-26.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-27.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-28.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-29.snap | 7 +- ...ariant_from_vcf@Case_1.ingested.vcf-3.snap | 6 +- ...riant_from_vcf@Case_1.ingested.vcf-30.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-31.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-32.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-33.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-34.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-35.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-36.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-37.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-38.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-39.snap | 7 +- ...ariant_from_vcf@Case_1.ingested.vcf-4.snap | 6 +- ...riant_from_vcf@Case_1.ingested.vcf-40.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-41.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-42.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-43.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-44.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-45.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-46.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-47.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-48.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-49.snap | 7 +- ...ariant_from_vcf@Case_1.ingested.vcf-5.snap | 6 +- ...riant_from_vcf@Case_1.ingested.vcf-50.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-51.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-52.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-53.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-54.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-55.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-56.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-57.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-58.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-59.snap | 7 +- ...ariant_from_vcf@Case_1.ingested.vcf-6.snap | 6 +- ...riant_from_vcf@Case_1.ingested.vcf-60.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-61.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-62.snap | 7 +- ...riant_from_vcf@Case_1.ingested.vcf-63.snap | 7 +- ...ariant_from_vcf@Case_1.ingested.vcf-7.snap | 6 +- ...ariant_from_vcf@Case_1.ingested.vcf-8.snap | 6 +- ...ariant_from_vcf@Case_1.ingested.vcf-9.snap | 6 +- ..._variant_from_vcf@Case_1.ingested.vcf.snap | 6 +- ...ariant_from_vcf@dragen.ingested.vcf-2.snap | 3 +- ..._variant_from_vcf@dragen.ingested.vcf.snap | 2 +- ...ema__test__smoke_test_load@empty.json.snap | 2 +- ...hema__test__smoke_test_load@full.json.snap | 2 +- ...test__smoke_test_load@with_extra.json.snap | 2 +- ..._test__smoke_test@Case_1.ingested.vcf.snap | 46 +- ..._test__smoke_test@dragen.ingested.vcf.snap | 2 +- src/strucvars/aggregate/cli.rs | 10 +- src/strucvars/aggregate/output.rs | 104 +- src/strucvars/ingest/header.rs | 111 +- src/strucvars/ingest/mod.rs | 261 +- ...s__ingest__test__smoke_test_singleton.snap | 4 +- ..._smoke_test_singleton_with_id_mapping.snap | 4 +- src/strucvars/query/masked.rs | 3 +- src/strucvars/query/mod.rs | 21 +- src/strucvars/query/schema.rs | 245 +- ...r__strucvars__query__test__smoke_test.snap | 4 +- src/strucvars/txt_to_bin/cli.rs | 59 +- src/strucvars/txt_to_bin/clinvar/input.rs | 316 -- src/strucvars/txt_to_bin/clinvar/mod.rs | 245 +- ...__test__run_convert_jsonl_to_protobuf.snap | 3061 +++++++++++++++++ ..._run_convert_jsonl_to_protobuf@Grch37.snap | 271 -- ..._run_convert_jsonl_to_protobuf@Grch38.snap | 254 -- .../vardbs/clinvar/bootstrap.sh | 29 + .../vardbs/clinvar/clinvar-svs.jsonl | 605 +++- .../vardbs/clinvar/clinvar-svs.jsonl.gz | Bin 137550 -> 62274 bytes tests/seqvars/aggregate/ingest.vcf | 2 +- tests/seqvars/ingest/db/bootstrap.sh | 20 +- .../grch37/seqvars/clinvar/rocksdb/000010.sst | 3 + .../grch37/seqvars/clinvar/rocksdb/000012.sst | 3 + .../grch37/seqvars/clinvar/rocksdb/000016.sst | 3 - .../grch37/seqvars/clinvar/rocksdb/000018.sst | 3 - .../grch37/seqvars/clinvar/rocksdb/000020.sst | 3 - .../grch37/seqvars/clinvar/rocksdb/IDENTITY | 2 +- .../db/grch37/seqvars/clinvar/rocksdb/LOG | 4 +- .../seqvars/clinvar/rocksdb/MANIFEST-000005 | 4 +- .../seqvars/clinvar/rocksdb/OPTIONS-000007 | 3 + .../seqvars/clinvar/rocksdb/OPTIONS-000011 | 3 - .../seqvars/clinvar/rocksdb/OPTIONS-000013 | 3 - .../grch38/seqvars/clinvar/rocksdb/000010.sst | 3 + .../grch38/seqvars/clinvar/rocksdb/000012.sst | 3 + .../grch38/seqvars/clinvar/rocksdb/000016.sst | 3 - .../grch38/seqvars/clinvar/rocksdb/000018.sst | 3 - .../grch38/seqvars/clinvar/rocksdb/000020.sst | 3 - .../grch38/seqvars/clinvar/rocksdb/IDENTITY | 2 +- .../db/grch38/seqvars/clinvar/rocksdb/LOG | 4 +- .../seqvars/clinvar/rocksdb/MANIFEST-000005 | 4 +- .../seqvars/clinvar/rocksdb/OPTIONS-000007 | 3 + .../seqvars/clinvar/rocksdb/OPTIONS-000011 | 3 - .../seqvars/clinvar/rocksdb/OPTIONS-000013 | 3 - tests/seqvars/prefilter/ingest.vcf | 2 +- tests/seqvars/query/Case_1.ingested.vcf | 126 +- tests/seqvars/query/dragen.ingested.vcf | 2 +- tests/strucvars/aggregate/oneline.vcf | 2 +- tests/strucvars/query/Case_3.ingested.vcf | 4 +- .../query/db/annonars/grch37/clinvar | 1 + .../grch37/clinvar-minimal/rocksdb/000016.sst | 3 - .../grch37/clinvar-minimal/rocksdb/000018.sst | 3 - .../grch37/clinvar-minimal/rocksdb/000020.sst | 3 - .../grch37/clinvar-minimal/rocksdb/CURRENT | 3 - .../grch37/clinvar-minimal/rocksdb/IDENTITY | 3 - .../grch37/clinvar-minimal/rocksdb/LOG | 3 - .../clinvar-minimal/rocksdb/MANIFEST-000005 | 3 - .../clinvar-minimal/rocksdb/OPTIONS-000011 | 3 - .../clinvar-minimal/rocksdb/OPTIONS-000013 | 3 - .../annonars/grch37/clinvar-minimal/spec.yaml | 3 - .../query/db/annonars/grch38/clinvar | 1 + .../grch38/clinvar-minimal/rocksdb/000016.sst | 3 - .../grch38/clinvar-minimal/rocksdb/000018.sst | 3 - .../grch38/clinvar-minimal/rocksdb/000020.sst | 3 - .../grch38/clinvar-minimal/rocksdb/CURRENT | 3 - .../grch38/clinvar-minimal/rocksdb/IDENTITY | 3 - .../grch38/clinvar-minimal/rocksdb/LOCK | 0 .../grch38/clinvar-minimal/rocksdb/LOG | 3 - .../clinvar-minimal/rocksdb/MANIFEST-000005 | 3 - .../clinvar-minimal/rocksdb/OPTIONS-000011 | 3 - .../clinvar-minimal/rocksdb/OPTIONS-000013 | 3 - .../annonars/grch38/clinvar-minimal/spec.yaml | 3 - tests/strucvars/query/db/bootstrap.sh | 4 +- 175 files changed, 6943 insertions(+), 3876 deletions(-) rename tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/LOCK => protos/varfish/v1/query_seqvars.proto (100%) delete mode 100644 src/strucvars/txt_to_bin/clinvar/input.rs create mode 100644 src/strucvars/txt_to_bin/clinvar/snapshots/varfish_server_worker__strucvars__txt_to_bin__clinvar__test__run_convert_jsonl_to_protobuf.snap delete mode 100644 src/strucvars/txt_to_bin/clinvar/snapshots/varfish_server_worker__strucvars__txt_to_bin__clinvar__test__run_convert_jsonl_to_protobuf@Grch37.snap delete mode 100644 src/strucvars/txt_to_bin/clinvar/snapshots/varfish_server_worker__strucvars__txt_to_bin__clinvar__test__run_convert_jsonl_to_protobuf@Grch38.snap create mode 100755 tests/db/to-bin/varfish-db-downloader/vardbs/clinvar/bootstrap.sh create mode 100644 tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000010.sst create mode 100644 tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000012.sst delete mode 100644 tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000016.sst delete mode 100644 tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000018.sst delete mode 100644 tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000020.sst create mode 100644 tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/OPTIONS-000007 delete mode 100644 tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/OPTIONS-000011 delete mode 100644 tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/OPTIONS-000013 create mode 100644 tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000010.sst create mode 100644 tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000012.sst delete mode 100644 tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000016.sst delete mode 100644 tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000018.sst delete mode 100644 tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000020.sst create mode 100644 tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/OPTIONS-000007 delete mode 100644 tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/OPTIONS-000011 delete mode 100644 tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/OPTIONS-000013 create mode 120000 tests/strucvars/query/db/annonars/grch37/clinvar delete mode 100644 tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/000016.sst delete mode 100644 tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/000018.sst delete mode 100644 tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/000020.sst delete mode 100644 tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/CURRENT delete mode 100644 tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/IDENTITY delete mode 100644 tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/LOG delete mode 100644 tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/MANIFEST-000005 delete mode 100644 tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/OPTIONS-000011 delete mode 100644 tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/OPTIONS-000013 delete mode 100644 tests/strucvars/query/db/annonars/grch37/clinvar-minimal/spec.yaml create mode 120000 tests/strucvars/query/db/annonars/grch38/clinvar delete mode 100644 tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/000016.sst delete mode 100644 tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/000018.sst delete mode 100644 tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/000020.sst delete mode 100644 tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/CURRENT delete mode 100644 tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/IDENTITY delete mode 100644 tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/LOCK delete mode 100644 tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/LOG delete mode 100644 tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/MANIFEST-000005 delete mode 100644 tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/OPTIONS-000011 delete mode 100644 tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/OPTIONS-000013 delete mode 100644 tests/strucvars/query/db/annonars/grch38/clinvar-minimal/spec.yaml diff --git a/.github/dependabot.yml b/.github/dependabot.yml index 17481d75..a4173aa4 100644 --- a/.github/dependabot.yml +++ b/.github/dependabot.yml @@ -12,6 +12,9 @@ updates: directory: "/" schedule: interval: "weekly" + ignore: + - dependency-name: "rocksdb" + - dependency-name: "noodles" groups: # Group together updates to noodles as there are peer dependencies. # diff --git a/Cargo.lock b/Cargo.lock index 7162acf4..57511e54 100644 --- a/Cargo.lock +++ b/Cargo.lock @@ -8,7 +8,7 @@ version = "0.5.2" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "5f7b0a21988c1bf877cf4759ef5ddaac04c1c9fe808c9142ecb78ba97d97a28a" dependencies = [ - "bitflags 2.4.2", + "bitflags 2.5.0", "bytes", "futures-core", "futures-sink", @@ -21,17 +21,17 @@ dependencies = [ [[package]] name = "actix-http" -version = "3.6.0" +version = "3.7.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "d223b13fd481fc0d1f83bb12659ae774d9e3601814c68a0bc539731698cca743" +checksum = "4eb9843d84c775696c37d9a418bbb01b932629d01870722c0f13eb3f95e2536d" dependencies = [ "actix-codec", "actix-rt", "actix-service", "actix-utils", "ahash 0.8.11", - "base64", - "bitflags 2.4.2", + "base64 0.22.1", + "bitflags 2.5.0", "brotli", "bytes", "bytestring", @@ -40,7 +40,7 @@ dependencies = [ "flate2", "futures-core", "h2", - "http 0.2.11", + "http 0.2.12", "httparse", "httpdate", "itoa", @@ -65,27 +65,29 @@ source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "e01ed3140b2f8d422c68afa1ed2e85d996ea619c988ac834d255db32138655cb" dependencies = [ "quote", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] name = "actix-router" -version = "0.5.2" +version = "0.5.3" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "d22475596539443685426b6bdadb926ad0ecaefdfc5fb05e5e3441f15463c511" +checksum = "13d324164c51f63867b57e73ba5936ea151b8a41a1d23d1031eeb9f70d0236f8" dependencies = [ "bytestring", - "http 0.2.11", + "cfg-if", + "http 0.2.12", "regex", + "regex-lite", "serde", "tracing", ] [[package]] name = "actix-rt" -version = "2.9.0" +version = "2.10.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "28f32d40287d3f402ae0028a9d54bef51af15c8769492826a69d28f81893151d" +checksum = "24eda4e2a6e042aa4e55ac438a2ae052d3b5da0ecf83d7411e1a368946925208" dependencies = [ "futures-core", "tokio", @@ -93,9 +95,9 @@ dependencies = [ [[package]] name = "actix-server" -version = "2.3.0" +version = "2.4.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "3eb13e7eef0423ea6eab0e59f6c72e7cb46d33691ad56a726b3cd07ddec2c2d4" +checksum = "b02303ce8d4e8be5b855af6cf3c3a08f3eff26880faad82bab679c22d3650cb5" dependencies = [ "actix-rt", "actix-service", @@ -103,7 +105,7 @@ dependencies = [ "futures-core", "futures-util", "mio", - "socket2 0.5.6", + "socket2 0.5.7", "tokio", "tracing", ] @@ -131,9 +133,9 @@ dependencies = [ [[package]] name = "actix-web" -version = "4.5.1" +version = "4.7.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "43a6556ddebb638c2358714d853257ed226ece6023ef9364f23f0c70737ea984" +checksum = "5d6316df3fa569627c98b12557a8b6ff0674e5be4bb9b5e4ae2550ddb4964ed6" dependencies = [ "actix-codec", "actix-http", @@ -160,32 +162,33 @@ dependencies = [ "once_cell", "pin-project-lite", "regex", + "regex-lite", "serde", "serde_json", "serde_urlencoded", "smallvec", - "socket2 0.5.6", + "socket2 0.5.7", "time", "url", ] [[package]] name = "actix-web-codegen" -version = "4.2.2" +version = "4.3.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "eb1f50ebbb30eca122b188319a4398b3f7bb4a8cdf50ecfb73bfc6a3c3ce54f5" +checksum = "f591380e2e68490b5dfaf1dd1aa0ebe78d84ba7067078512b4ea6e4492d622b8" dependencies = [ "actix-router", "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] name = "addr2line" -version = "0.21.0" +version = "0.22.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "8a30b2e23b9e17a9f90641c7ab1549cd9b44f296d3ccbf309d2863cfe398a0cb" +checksum = "6e4503c46a5c0c7844e948c9a4d6acd9f50cccb4de1c48eb9e291ea17470c678" dependencies = [ "gimli", ] @@ -222,9 +225,9 @@ dependencies = [ [[package]] name = "aho-corasick" -version = "1.1.2" +version = "1.1.3" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "b2969dcb958b36655471fc61f7e416fa76033bdd4bfed0678d8fee1e2d07a1f0" +checksum = "8e60d3430d3a69478ad0993f19238d2df97c507009a52b3c10addcd7f6bcb916" dependencies = [ "memchr", ] @@ -246,9 +249,9 @@ dependencies = [ [[package]] name = "allocator-api2" -version = "0.2.16" +version = "0.2.18" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "0942ffc6dcaadf03badf6e6a2d0228460359d5e34b57ccdc720b7382dfbd5ec5" +checksum = "5c6cb57a04249c6480766f7f7cef5467412af1490f8d1e243141daddada3264f" [[package]] name = "android-tzdata" @@ -267,9 +270,9 @@ dependencies = [ [[package]] name = "annonars" -version = "0.36.1" +version = "0.39.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "1be5c8ae15c7a3bd4d89af452104d7a026806434490d2b201dca043485c3f468" +checksum = "37532e1e083ca6dcc0a1420ad7d8b718c78103d325222749d8d7091237d19aaf" dependencies = [ "actix-web", "anyhow", @@ -288,14 +291,9 @@ dependencies = [ "flate2", "indexmap 2.2.6", "indicatif", + "itertools 0.13.0", "log", - "noodles-bed", - "noodles-bgzf", - "noodles-core", - "noodles-csi", - "noodles-gff", - "noodles-tabix", - "noodles-vcf", + "noodles", "pbjson", "pbjson-build", "pbjson-types", @@ -316,47 +314,48 @@ dependencies = [ [[package]] name = "anstream" -version = "0.6.12" +version = "0.6.14" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "96b09b5178381e0874812a9b157f7fe84982617e48f71f4e3235482775e5b540" +checksum = "418c75fa768af9c03be99d17643f93f79bbba589895012a80e3452a19ddda15b" dependencies = [ "anstyle", "anstyle-parse", "anstyle-query", "anstyle-wincon", "colorchoice", + "is_terminal_polyfill", "utf8parse", ] [[package]] name = "anstyle" -version = "1.0.6" +version = "1.0.7" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "8901269c6307e8d93993578286ac0edf7f195079ffff5ebdeea6a59ffb7e36bc" +checksum = "038dfcf04a5feb68e9c60b21c9625a54c2c0616e79b72b0fd87075a056ae1d1b" [[package]] name = "anstyle-parse" -version = "0.2.3" +version = "0.2.4" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "c75ac65da39e5fe5ab759307499ddad880d724eed2f6ce5b5e8a26f4f387928c" +checksum = "c03a11a9034d92058ceb6ee011ce58af4a9bf61491aa7e1e59ecd24bd40d22d4" dependencies = [ "utf8parse", ] [[package]] name = "anstyle-query" -version = "1.0.2" +version = "1.1.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "e28923312444cdd728e4738b3f9c9cac739500909bb3d3c94b43551b16517648" +checksum = "ad186efb764318d35165f1758e7dcef3b10628e26d41a44bc5550652e6804391" dependencies = [ "windows-sys 0.52.0", ] [[package]] name = "anstyle-wincon" -version = "3.0.2" +version = "3.0.3" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "1cd54b81ec8d6180e24654d0b371ad22fc3dd083b6ff8ba325b72e00c87660a7" +checksum = "61a38449feb7068f52bb06c12759005cf459ee52bb4adc1d5a7c4322d716fb19" dependencies = [ "anstyle", "windows-sys 0.52.0", @@ -364,9 +363,9 @@ dependencies = [ [[package]] name = "anyhow" -version = "1.0.80" +version = "1.0.86" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "5ad32ce52e4161730f7098c077cd2ed6229b5804ccf99e5366be1ab72a98b4e1" +checksum = "b3d1d046238990b9cf5bcde22a3fb3584ee5cf65fb2765f454ed428c7a0063da" [[package]] name = "approx" @@ -406,22 +405,21 @@ dependencies = [ [[package]] name = "async-channel" -version = "2.2.0" +version = "2.3.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "f28243a43d821d11341ab73c80bed182dc015c514b951616cf79bd4af39af0c3" +checksum = "89b47800b0be77592da0afd425cc03468052844aff33b84e33cc696f64e77b6a" dependencies = [ "concurrent-queue", - "event-listener 5.1.0", - "event-listener-strategy 0.5.0", + "event-listener-strategy", "futures-core", "pin-project-lite", ] [[package]] name = "async-compression" -version = "0.4.6" +version = "0.4.11" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "a116f46a969224200a0a97f29cfd4c50e7534e4b4826bd23ea2c3c533039c82c" +checksum = "cd066d0b4ef8ecb03a55319dc13aa6910616d0f44008a045bb1835af830abff5" dependencies = [ "flate2", "futures-core", @@ -432,15 +430,14 @@ dependencies = [ [[package]] name = "async-executor" -version = "1.8.0" +version = "1.12.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "17ae5ebefcc48e7452b4987947920dac9450be1110cadf34d1b8c116bdbaf97c" +checksum = "c8828ec6e544c02b0d6691d21ed9f9218d0384a82542855073c2a3f58304aaf0" dependencies = [ - "async-lock 3.3.0", "async-task", "concurrent-queue", - "fastrand 2.0.1", - "futures-lite 2.2.0", + "fastrand 2.1.0", + "futures-lite 2.3.0", "slab", ] @@ -450,12 +447,12 @@ version = "2.4.1" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "05b1b633a2115cd122d73b955eadd9916c18c8f510ec9cd1686404c60ad1c29c" dependencies = [ - "async-channel 2.2.0", + "async-channel 2.3.1", "async-executor", - "async-io 2.3.1", - "async-lock 3.3.0", + "async-io 2.3.3", + "async-lock 3.4.0", "blocking", - "futures-lite 2.2.0", + "futures-lite 2.3.0", "once_cell", ] @@ -481,18 +478,18 @@ dependencies = [ [[package]] name = "async-io" -version = "2.3.1" +version = "2.3.3" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "8f97ab0c5b00a7cdbe5a371b9a782ee7be1316095885c8a4ea1daf490eb0ef65" +checksum = "0d6baa8f0178795da0e71bc42c9e5d13261aac7ee549853162e66a241ba17964" dependencies = [ - "async-lock 3.3.0", + "async-lock 3.4.0", "cfg-if", "concurrent-queue", "futures-io", - "futures-lite 2.2.0", + "futures-lite 2.3.0", "parking", - "polling 3.5.0", - "rustix 0.38.31", + "polling 3.7.1", + "rustix 0.38.34", "slab", "tracing", "windows-sys 0.52.0", @@ -509,12 +506,12 @@ dependencies = [ [[package]] name = "async-lock" -version = "3.3.0" +version = "3.4.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "d034b430882f8381900d3fe6f0aaa3ad94f2cb4ac519b429692a1bc2dda4ae7b" +checksum = "ff6e472cdea888a4bd64f342f09b3f50e1886d32afe8df3d663c01140b811b18" dependencies = [ - "event-listener 4.0.3", - "event-listener-strategy 0.4.0", + "event-listener 5.3.1", + "event-listener-strategy", "pin-project-lite", ] @@ -547,19 +544,19 @@ dependencies = [ [[package]] name = "async-task" -version = "4.7.0" +version = "4.7.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "fbb36e985947064623dbd357f727af08ffd077f93d696782f3c56365fa2e2799" +checksum = "8b75356056920673b02621b35afd0f7dda9306d03c79a30f5c56c44cf256e3de" [[package]] name = "async-trait" -version = "0.1.77" +version = "0.1.80" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "c980ee35e870bd1a4d2c8294d4c04d0499e67bca1e4b5cefcc693c2fa00caea9" +checksum = "c6fa2087f2753a7da8cc1c0dbfcf89579dd57458e36769de5ac750b4671737ca" dependencies = [ "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] @@ -570,9 +567,9 @@ checksum = "1505bd5d3d116872e7271a6d4e16d81d0c8570876c8de68093a09ac269d8aac0" [[package]] name = "autocfg" -version = "1.1.0" +version = "1.3.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "d468802bab17cbc0cc575e9b053f41e72aa36bfa6b7f55e3529ffa43161b97fa" +checksum = "0c4b4d0bd25bd0b74681c0ad21497610ce1b7c91b1022cd21c80c6fbdd9476b0" [[package]] name = "aws-config" @@ -593,9 +590,9 @@ dependencies = [ "aws-smithy-types", "aws-types", "bytes", - "fastrand 2.0.1", + "fastrand 2.1.0", "hex", - "http 0.2.11", + "http 0.2.12", "hyper", "ring", "time", @@ -619,9 +616,9 @@ dependencies = [ [[package]] name = "aws-runtime" -version = "1.2.2" +version = "1.2.3" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "75588e7ee5e8496eed939adac2035a6dbab9f7eb2acdd9ab2d31856dab6f3955" +checksum = "36978815abdd7297662bf906adff132941a02ecf425bc78fac7d90653ce87560" dependencies = [ "aws-credential-types", "aws-sigv4", @@ -632,8 +629,8 @@ dependencies = [ "aws-smithy-types", "aws-types", "bytes", - "fastrand 2.0.1", - "http 0.2.11", + "fastrand 2.1.0", + "http 0.2.12", "http-body 0.4.6", "percent-encoding", "pin-project-lite", @@ -643,9 +640,9 @@ dependencies = [ [[package]] name = "aws-sdk-s3" -version = "1.33.0" +version = "1.36.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "4d4f6dd394c29b6727b298dd966cba14b7f50edcb269d2172eaea691466530a0" +checksum = "99e06a6cd8592e486f29c8af427c4083286cee4ea0e4ae46a164a24d07ee19d5" dependencies = [ "ahash 0.8.11", "aws-credential-types", @@ -662,10 +659,10 @@ dependencies = [ "aws-smithy-xml", "aws-types", "bytes", - "fastrand 2.0.1", + "fastrand 2.1.0", "hex", "hmac", - "http 0.2.11", + "http 0.2.12", "http-body 0.4.6", "lru", "once_cell", @@ -678,9 +675,9 @@ dependencies = [ [[package]] name = "aws-sdk-sso" -version = "1.29.0" +version = "1.31.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "da75cf91cbb46686a27436d639a720a3a198b148efa76dc2467b7e5374a67fc0" +checksum = "7833dd5b061741825b8531360789bbd74fc365674601d3e9a79914310be320f9" dependencies = [ "aws-credential-types", "aws-runtime", @@ -692,7 +689,7 @@ dependencies = [ "aws-smithy-types", "aws-types", "bytes", - "http 0.2.11", + "http 0.2.12", "once_cell", "regex-lite", "tracing", @@ -700,9 +697,9 @@ dependencies = [ [[package]] name = "aws-sdk-ssooidc" -version = "1.30.0" +version = "1.32.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "cf2ec8a6687299685ed0a4a3137c129cdb132b5235bc3aa3443f6cffe468b9ff" +checksum = "c531346d4f36874b74ea82978a03011ab413b007b841029a8c30a48f18cc3f37" dependencies = [ "aws-credential-types", "aws-runtime", @@ -714,7 +711,7 @@ dependencies = [ "aws-smithy-types", "aws-types", "bytes", - "http 0.2.11", + "http 0.2.12", "once_cell", "regex-lite", "tracing", @@ -722,9 +719,9 @@ dependencies = [ [[package]] name = "aws-sdk-sts" -version = "1.29.0" +version = "1.31.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "458f1031e094b1411b59b49b19e4118f069e1fe13a9c5b8888e933daaf7ffdd6" +checksum = "ca214135f34b4841050f6466d4a56743e02aa63169f1b5e77161043f20653400" dependencies = [ "aws-credential-types", "aws-runtime", @@ -737,7 +734,7 @@ dependencies = [ "aws-smithy-types", "aws-smithy-xml", "aws-types", - "http 0.2.11", + "http 0.2.12", "once_cell", "regex-lite", "tracing", @@ -745,9 +742,9 @@ dependencies = [ [[package]] name = "aws-sigv4" -version = "1.2.1" +version = "1.2.2" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "58b56f1cbe6fd4d0c2573df72868f20ab1c125ca9c9dbce17927a463433a2e57" +checksum = "31eed8d45759b2c5fe7fd304dd70739060e9e0de509209036eabea14d0720cce" dependencies = [ "aws-credential-types", "aws-smithy-eventstream", @@ -759,7 +756,7 @@ dependencies = [ "form_urlencoded", "hex", "hmac", - "http 0.2.11", + "http 0.2.12", "http 1.1.0", "once_cell", "p256", @@ -785,9 +782,9 @@ dependencies = [ [[package]] name = "aws-smithy-checksums" -version = "0.60.9" +version = "0.60.10" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "6242d6a54d3b4b83458f4abd7057ba93c4419dc71e8217e9acd3a748d656d99e" +checksum = "c5b30ea96823b8b25fb6471643a516e1bd475fd5575304e6240aea179f213216" dependencies = [ "aws-smithy-http", "aws-smithy-types", @@ -795,7 +792,7 @@ dependencies = [ "crc32c", "crc32fast", "hex", - "http 0.2.11", + "http 0.2.12", "http-body 0.4.6", "md-5", "pin-project-lite", @@ -827,7 +824,7 @@ dependencies = [ "bytes", "bytes-utils", "futures-core", - "http 0.2.11", + "http 0.2.12", "http-body 0.4.6", "once_cell", "percent-encoding", @@ -857,20 +854,21 @@ dependencies = [ [[package]] name = "aws-smithy-runtime" -version = "1.5.5" +version = "1.6.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "d0d3965f6417a92a6d1009c5958a67042f57e46342afb37ca58f9ad26744ec73" +checksum = "db83b08939838d18e33b5dbaf1a0f048f28c10bd28071ab7ce6f245451855414" dependencies = [ "aws-smithy-async", "aws-smithy-http", "aws-smithy-runtime-api", "aws-smithy-types", "bytes", - "fastrand 2.0.1", + "fastrand 2.1.0", "h2", - "http 0.2.11", + "http 0.2.12", "http-body 0.4.6", "http-body 1.0.0", + "httparse", "hyper", "hyper-rustls", "once_cell", @@ -883,14 +881,14 @@ dependencies = [ [[package]] name = "aws-smithy-runtime-api" -version = "1.6.2" +version = "1.7.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "4179bd8a1c943e1aceb46c5b9fc014a561bd6c35a2153e816ba29076ee49d245" +checksum = "1b570ea39eb95bd32543f6e4032bce172cb6209b9bc8c83c770d08169e875afc" dependencies = [ "aws-smithy-async", "aws-smithy-types", "bytes", - "http 0.2.11", + "http 0.2.12", "http 1.1.0", "pin-project-lite", "tokio", @@ -900,15 +898,15 @@ dependencies = [ [[package]] name = "aws-smithy-types" -version = "1.1.10" +version = "1.2.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "5b6764ba7e1c5ede1c9f9e4046645534f06c2581402461c559b481a420330a83" +checksum = "cfe321a6b21f5d8eabd0ade9c55d3d0335f3c3157fc2b3e87f05f34b539e4df5" dependencies = [ "base64-simd", "bytes", "bytes-utils", "futures-core", - "http 0.2.11", + "http 0.2.12", "http 1.1.0", "http-body 0.4.6", "http-body 1.0.0", @@ -943,16 +941,16 @@ dependencies = [ "aws-smithy-async", "aws-smithy-runtime-api", "aws-smithy-types", - "http 0.2.11", + "http 0.2.12", "rustc_version 0.4.0", "tracing", ] [[package]] name = "backtrace" -version = "0.3.69" +version = "0.3.73" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "2089b7e3f35b9dd2d0ed921ead4f6d318c27680d4a5bd167b3ee120edb105837" +checksum = "5cc23269a4f8976d0a4d2e7109211a419fe30e8d88d677cd60b6bc79c5732e0a" dependencies = [ "addr2line", "cc", @@ -981,6 +979,12 @@ version = "0.21.7" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "9d297deb1925b89f2ccc13d7635fa0714f12c87adce1c75356b39ca9b7178567" +[[package]] +name = "base64" +version = "0.22.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "72b3254f16251a8381aa12e40e3c4d2f0199f8c6508fbecb9d91f575e0fbb8c6" + [[package]] name = "base64-simd" version = "0.8.0" @@ -1011,30 +1015,29 @@ dependencies = [ [[package]] name = "bindgen" -version = "0.65.1" +version = "0.69.4" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "cfdf7b466f9a4903edc73f95d6d2bcd5baf8ae620638762244d3f60143643cc5" +checksum = "a00dc851838a2120612785d195287475a3ac45514741da670b735818822129a0" dependencies = [ - "bitflags 1.3.2", + "bitflags 2.5.0", "cexpr", "clang-sys", + "itertools 0.12.1", "lazy_static", "lazycell", - "peeking_take_while", - "prettyplease", "proc-macro2", "quote", "regex", "rustc-hash", "shlex", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] name = "bio" -version = "1.5.0" +version = "1.6.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "25dccfc5babf5a4f505ab5bdda0e18d4b5fc1600c222677c54992203632cbdf5" +checksum = "7a72cb93babf08c85b375c2938ac678cc637936b3ebb72266d433cec2577f6c2" dependencies = [ "anyhow", "approx", @@ -1047,7 +1050,6 @@ dependencies = [ "editdistancek", "enum-map", "fxhash", - "getset", "itertools 0.11.0", "itertools-num", "lazy_static", @@ -1120,9 +1122,9 @@ checksum = "bef38d45163c2f1dde094a7dfd33ccf595c92905c8f8f4fdc18d06fb1037718a" [[package]] name = "bitflags" -version = "2.4.2" +version = "2.5.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "ed570934406eb16438a4e976b1b4500774099c13b8cb96eec99f620f05090ddf" +checksum = "cf4b9d6a944f767f8e5e0db018570623c85f3d925ac718db4e06d0187adb21c1" [[package]] name = "bitvec" @@ -1147,18 +1149,15 @@ dependencies = [ [[package]] name = "blocking" -version = "1.5.1" +version = "1.6.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "6a37913e8dc4ddcc604f0c6d3bf2887c995153af3611de9e23c352b44c1b9118" +checksum = "703f41c54fc768e63e091340b424302bb1c29ef4aa0c7f10fe849dfb114d29ea" dependencies = [ - "async-channel 2.2.0", - "async-lock 3.3.0", + "async-channel 2.3.1", "async-task", - "fastrand 2.0.1", "futures-io", - "futures-lite 2.2.0", + "futures-lite 2.3.0", "piper", - "tracing", ] [[package]] @@ -1169,9 +1168,9 @@ checksum = "c057a3e5631e754d98c5a9e3baa56803fce8fe238b009ecd876e57d381d44c00" [[package]] name = "borsh" -version = "1.3.1" +version = "1.5.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "f58b559fd6448c6e2fd0adb5720cd98a2506594cafa4737ff98c396f3e82f667" +checksum = "a6362ed55def622cddc70a4746a68554d7b687713770de539e59a739b249f8ed" dependencies = [ "borsh-derive", "cfg_aliases", @@ -1179,23 +1178,23 @@ dependencies = [ [[package]] name = "borsh-derive" -version = "1.3.1" +version = "1.5.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "7aadb5b6ccbd078890f6d7003694e33816e6b784358f18e15e7e6d9f065a57cd" +checksum = "c3ef8005764f53cd4dca619f5bf64cafd4664dada50ece25e4d81de54c80cc0b" dependencies = [ "once_cell", "proc-macro-crate", "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", "syn_derive", ] [[package]] name = "brotli" -version = "3.4.0" +version = "6.0.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "516074a47ef4bce09577a3b379392300159ce5b1ba2e501ff1c819950066100f" +checksum = "74f7971dbd9326d58187408ab83117d8ac1bb9c17b085fdacd1cf2f598719b6b" dependencies = [ "alloc-no-stdlib", "alloc-stdlib", @@ -1204,19 +1203,29 @@ dependencies = [ [[package]] name = "brotli-decompressor" -version = "2.5.1" +version = "4.0.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "4e2e4afe60d7dd600fdd3de8d0f08c2b7ec039712e3b6137ff98b7004e82de4f" +checksum = "9a45bd2e4095a8b518033b128020dd4a55aab1c0a381ba4404a472630f4bc362" dependencies = [ "alloc-no-stdlib", "alloc-stdlib", ] +[[package]] +name = "bstr" +version = "1.9.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "05efc5cfd9110c8416e471df0e96702d58690178e206e61b7173706673c93706" +dependencies = [ + "memchr", + "serde", +] + [[package]] name = "bumpalo" -version = "3.15.3" +version = "3.16.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "8ea184aa71bb362a1157c896979544cc23974e08fd265f29ea96b59f0b4a555b" +checksum = "79296716171880943b8470b5f8d03aa55eb2e645a4874bdbb28adb49162e012c" [[package]] name = "bv" @@ -1263,15 +1272,15 @@ dependencies = [ [[package]] name = "bytecount" -version = "0.6.7" +version = "0.6.8" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "e1e5f035d16fc623ae5f74981db80a439803888314e3a555fd6f04acd51a3205" +checksum = "5ce89b21cab1437276d2650d57e971f9d548a2d9037cc231abdc0562b97498ce" [[package]] name = "bytemuck" -version = "1.14.3" +version = "1.16.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "a2ef034f05691a48569bd920a96c81b9d91bbad1ab5ac7c4616c1f6ef36cb79f" +checksum = "78834c15cb5d5efe3452d58b1e8ba890dd62d21907f867f383358198e56ebca5" [[package]] name = "byteorder" @@ -1281,9 +1290,9 @@ checksum = "1fd0f2584146f6f2ef48085050886acf353beff7305ebd1ae69500e27c67f64b" [[package]] name = "bytes" -version = "1.5.0" +version = "1.6.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "a2bd12c1caf447e69cd4528f47f94d203fd2582878ecb9e9465484c4148a8223" +checksum = "514de17de45fdb8dc022b1a7975556c53c86f9f0aa5f534b98977b171857c2c9" [[package]] name = "bytes-utils" @@ -1310,6 +1319,16 @@ dependencies = [ "bytes", ] +[[package]] +name = "bzip2" +version = "0.4.4" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "bdb116a6ef3f6c3698828873ad02c3014b3c85cadb88496095628e3ef1e347f8" +dependencies = [ + "bzip2-sys", + "libc", +] + [[package]] name = "bzip2-sys" version = "0.1.11+1.0.8" @@ -1321,13 +1340,48 @@ dependencies = [ "pkg-config", ] +[[package]] +name = "cached" +version = "0.50.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "10a7d38ed2761b8a13ce42bc44b09d5a052b88da2f9fead624c779f31ac0729a" +dependencies = [ + "ahash 0.8.11", + "cached_proc_macro", + "cached_proc_macro_types", + "hashbrown 0.14.5", + "instant", + "once_cell", + "thiserror", +] + +[[package]] +name = "cached_proc_macro" +version = "0.21.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "771aa57f3b17da6c8bcacb187bb9ec9bc81c8160e72342e67c329e0e1651a669" +dependencies = [ + "darling", + "proc-macro2", + "quote", + "syn 2.0.66", +] + +[[package]] +name = "cached_proc_macro_types" +version = "0.1.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "ade8366b8bd5ba243f0a58f036cc0ca8a2f069cff1a2351ef1cac6b083e16fc0" + [[package]] name = "cc" -version = "1.0.88" +version = "1.0.99" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "02f341c093d19155a6e41631ce5971aac4e9a868262212153124c15fa22d1cdc" +checksum = "96c51067fd44124faa7f870b4b1c969379ad32b2ba805aa959430ceaa384f695" dependencies = [ + "jobserver", "libc", + "once_cell", ] [[package]] @@ -1347,15 +1401,15 @@ checksum = "baf1de4339761588bc0619e3cbc0120ee582ebb74b53b4efbf79117bd2da40fd" [[package]] name = "cfg_aliases" -version = "0.1.1" +version = "0.2.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "fd16c4719339c4530435d38e511904438d07cce7950afa3718a84ac36c10e89e" +checksum = "613afe47fcd5fac7ccf1db93babcb082c5994d996f20b8b159f2ad1658eb5724" [[package]] name = "chrono" -version = "0.4.35" +version = "0.4.38" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "8eaf5903dcbc0a39312feb77df2ff4c76387d591b9fc7b04a238dcf8bb62639a" +checksum = "a21f936df1771bf62b77f047b726c4625ff2e8aa607c01ec06e5a05bd8463401" dependencies = [ "android-tzdata", "iana-time-zone", @@ -1363,14 +1417,14 @@ dependencies = [ "num-traits", "serde", "wasm-bindgen", - "windows-targets 0.52.3", + "windows-targets 0.52.5", ] [[package]] name = "clang-sys" -version = "1.7.0" +version = "1.8.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "67523a3b4be3ce1989d607a828d036249522dd9c1c8de7f4dd2dae43a37369d1" +checksum = "0b023947811758c97c59bf9d1c188fd619ad4718dcaa767947df1cadb14f39f4" dependencies = [ "glob", "libc", @@ -1379,9 +1433,9 @@ dependencies = [ [[package]] name = "clap" -version = "4.5.4" +version = "4.5.7" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "90bc066a67923782aa8515dbaea16946c5bcc5addbd668bb80af688e53e548a0" +checksum = "5db83dced34638ad474f39f250d7fea9598bdd239eaced1bdf45d597da0f433f" dependencies = [ "clap_builder", "clap_derive", @@ -1399,45 +1453,45 @@ dependencies = [ [[package]] name = "clap_builder" -version = "4.5.2" +version = "4.5.7" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "ae129e2e766ae0ec03484e609954119f123cc1fe650337e155d03b022f24f7b4" +checksum = "f7e204572485eb3fbf28f871612191521df159bc3e15a9f5064c66dba3a8c05f" dependencies = [ "anstream", "anstyle", "clap_lex", - "strsim 0.11.0", + "strsim", ] [[package]] name = "clap_derive" -version = "4.5.4" +version = "4.5.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "528131438037fd55894f62d6e9f068b8f45ac57ffa77517819645d10aed04f64" +checksum = "c780290ccf4fb26629baa7a1081e68ced113f1d3ec302fa5948f1c381ebf06c6" dependencies = [ "heck 0.5.0", "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] name = "clap_lex" -version = "0.7.0" +version = "0.7.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "98cc8fbded0c607b7ba9dd60cd98df59af97e84d24e49c8557331cfc26d301ce" +checksum = "4b82cf0babdbd58558212896d1a4272303a57bdb245c2bf1147185fb45640e70" [[package]] name = "colorchoice" -version = "1.0.0" +version = "1.0.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "acbf1af155f9b9ef647e42cdc158db4b64a1b61f743629225fde6f3e0be2a7c7" +checksum = "0b6a852b24ab71dffc585bcb46eaf7959d175cb865a7152e35b348d1b2960422" [[package]] name = "concurrent-queue" -version = "2.4.0" +version = "2.5.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "d16048cd947b08fa32c24458a22f5dc5e835264f689f4f5653210c69fd107363" +checksum = "4ca0197aee26d1ae37445ee532fefce43251d24cc7c166799f4d46817f1d3973" dependencies = [ "crossbeam-utils", ] @@ -1494,6 +1548,16 @@ version = "0.8.6" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "06ea2b9bc92be3c2baa9334a323ebca2d6f074ff852cd1d7b11064035cd3868f" +[[package]] +name = "coz" +version = "0.1.3" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "cef55b3fe2f5477d59e12bc792e8b3c95a25bd099eadcfae006ecea136de76e2" +dependencies = [ + "libc", + "once_cell", +] + [[package]] name = "cpufeatures" version = "0.2.12" @@ -1505,27 +1569,27 @@ dependencies = [ [[package]] name = "crc32c" -version = "0.6.5" +version = "0.6.8" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "89254598aa9b9fa608de44b3ae54c810f0f06d755e24c50177f1f8f31ff50ce2" +checksum = "3a47af21622d091a8f0fb295b88bc886ac74efcc613efc19f5d0b21de5c89e47" dependencies = [ "rustc_version 0.4.0", ] [[package]] name = "crc32fast" -version = "1.4.0" +version = "1.4.2" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "b3855a8a784b474f333699ef2bbca9db2c4a1f6d9088a90a2d25b1eb53111eaa" +checksum = "a97769d94ddab943e4510d138150169a2758b5ef3eb191a9ee688de3e23ef7b3" dependencies = [ "cfg-if", ] [[package]] name = "crossbeam-channel" -version = "0.5.11" +version = "0.5.13" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "176dc175b78f56c0f321911d9c8eb2b77a78a4860b9c19db83835fea1a46649b" +checksum = "33480d6946193aa8033910124896ca395333cae7e2d1113d1fef6c3272217df2" dependencies = [ "crossbeam-utils", ] @@ -1551,9 +1615,9 @@ dependencies = [ [[package]] name = "crossbeam-utils" -version = "0.8.19" +version = "0.8.20" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "248e3bacc7dc6baa3b21e405ee045c3047101a49145e7e9eca583ab4c2ca5345" +checksum = "22ec99545bb0ed0ea7bb9b8e1e9122ea386ff8a48c0922e43f36d45ab09e0e80" [[package]] name = "crypto-bigint" @@ -1616,72 +1680,37 @@ checksum = "ef8ae57c4978a2acd8b869ce6b9ca1dfe817bff704c220209fdef2c0b75a01b9" [[package]] name = "darling" -version = "0.14.4" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "7b750cb3417fd1b327431a470f388520309479ab0bf5e323505daf0290cd3850" -dependencies = [ - "darling_core 0.14.4", - "darling_macro 0.14.4", -] - -[[package]] -name = "darling" -version = "0.20.8" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "54e36fcd13ed84ffdfda6f5be89b31287cbb80c439841fe69e04841435464391" -dependencies = [ - "darling_core 0.20.8", - "darling_macro 0.20.8", -] - -[[package]] -name = "darling_core" -version = "0.14.4" +version = "0.20.9" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "109c1ca6e6b7f82cc233a97004ea8ed7ca123a9af07a8230878fcfda9b158bf0" +checksum = "83b2eb4d90d12bdda5ed17de686c2acb4c57914f8f921b8da7e112b5a36f3fe1" dependencies = [ - "fnv", - "ident_case", - "proc-macro2", - "quote", - "strsim 0.10.0", - "syn 1.0.109", + "darling_core", + "darling_macro", ] [[package]] name = "darling_core" -version = "0.20.8" +version = "0.20.9" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "9c2cf1c23a687a1feeb728783b993c4e1ad83d99f351801977dd809b48d0a70f" +checksum = "622687fe0bac72a04e5599029151f5796111b90f1baaa9b544d807a5e31cd120" dependencies = [ "fnv", "ident_case", "proc-macro2", "quote", - "strsim 0.10.0", - "syn 2.0.51", -] - -[[package]] -name = "darling_macro" -version = "0.14.4" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "a4aab4dbc9f7611d8b55048a3a16d2d010c2c8334e46304b40ac1cc14bf3b48e" -dependencies = [ - "darling_core 0.14.4", - "quote", - "syn 1.0.109", + "strsim", + "syn 2.0.66", ] [[package]] name = "darling_macro" -version = "0.20.8" +version = "0.20.9" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "a668eda54683121533a393014d8692171709ff57a7d61f187b6e782719f8933f" +checksum = "733cabb43482b1a1b53eee8583c2b9e8684d592215ea83efd305dd31bc2f0178" dependencies = [ - "darling_core 0.20.8", + "darling_core", "quote", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] @@ -1754,16 +1783,7 @@ checksum = "d150dea618e920167e5973d70ae6ece4385b7164e0d799fe7c122dd0a5d912ad" dependencies = [ "proc-macro2", "quote", - "syn 2.0.51", -] - -[[package]] -name = "derive_builder" -version = "0.13.1" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "8f59169f400d8087f238c5c0c7db6a28af18681717f3b623227d92f397e938c7" -dependencies = [ - "derive_builder_macro 0.13.1", + "syn 2.0.66", ] [[package]] @@ -1772,19 +1792,7 @@ version = "0.20.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "0350b5cb0331628a5916d6c5c0b72e97393b8b6b03b47a9284f4e7f5a405ffd7" dependencies = [ - "derive_builder_macro 0.20.0", -] - -[[package]] -name = "derive_builder_core" -version = "0.13.1" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "a4ec317cc3e7ef0928b0ca6e4a634a4d6c001672ae210438cf114a83e56b018d" -dependencies = [ - "darling 0.14.4", - "proc-macro2", - "quote", - "syn 1.0.109", + "derive_builder_macro", ] [[package]] @@ -1793,20 +1801,10 @@ version = "0.20.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "d48cda787f839151732d396ac69e3473923d54312c070ee21e9effcaa8ca0b1d" dependencies = [ - "darling 0.20.8", + "darling", "proc-macro2", "quote", - "syn 2.0.51", -] - -[[package]] -name = "derive_builder_macro" -version = "0.13.1" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "870368c3fb35b8031abb378861d4460f573b92238ec2152c927a21f77e3e0127" -dependencies = [ - "derive_builder_core 0.13.1", - "syn 1.0.109", + "syn 2.0.66", ] [[package]] @@ -1815,8 +1813,8 @@ version = "0.20.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "206868b8242f27cecce124c19fd88157fbd0dd334df2587f36417bafbc85097b" dependencies = [ - "derive_builder_core 0.20.0", - "syn 2.0.51", + "derive_builder_core", + "syn 2.0.66", ] [[package]] @@ -1832,6 +1830,22 @@ dependencies = [ "syn 1.0.109", ] +[[package]] +name = "dhat" +version = "0.3.3" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "98cd11d84628e233de0ce467de10b8633f4ddaecafadefc86e13b84b8739b827" +dependencies = [ + "backtrace", + "lazy_static", + "mintex", + "parking_lot", + "rustc-hash", + "serde", + "serde_json", + "thousands", +] + [[package]] name = "diff" version = "0.1.13" @@ -1870,6 +1884,17 @@ dependencies = [ "windows-sys 0.48.0", ] +[[package]] +name = "displaydoc" +version = "0.2.4" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "487585f4d0c6655fe74905e2504d8ad6908e4db67f744eb140876906c2f3175d" +dependencies = [ + "proc-macro2", + "quote", + "syn 2.0.66", +] + [[package]] name = "ecdsa" version = "0.14.8" @@ -1890,9 +1915,9 @@ checksum = "3e02df23d5b1c6f9e69fa603b890378123b93073df998a21e6e33b9db0a32613" [[package]] name = "either" -version = "1.10.0" +version = "1.12.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "11157ac094ffbdde99aa67b23417ebdd801842852b500e395a45a9c0aac03e4a" +checksum = "3dca9240753cf90908d7e4aac30f630662b02aebaa1b58a3cadabdb23385b58b" [[package]] name = "elliptic-curve" @@ -1922,9 +1947,9 @@ checksum = "a357d28ed41a50f9c765dbfe56cbc04a64e53e5fc58ba79fbc34c10ef3df831f" [[package]] name = "encoding_rs" -version = "0.8.33" +version = "0.8.34" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "7268b386296a025e474d5140678f75d6de9493ae55a5d709eeb9dd08149945e1" +checksum = "b45de904aa0b010bce2ab45264d0631681847fa7b6f2eaa7dab7619943bc4f59" dependencies = [ "cfg-if", ] @@ -1947,7 +1972,7 @@ checksum = "f282cfdfe92516eb26c2af8589c274c7c17681f5ecc03c18255fe741c6aa64eb" dependencies = [ "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] @@ -1962,9 +1987,9 @@ dependencies = [ [[package]] name = "env_logger" -version = "0.11.2" +version = "0.11.3" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "6c012a26a7f605efc424dd53697843a72be7dc86ad2d01f7814337794a12231d" +checksum = "38b35839ba51819680ba087cd351788c9a3c476841207e0b8cee0b04722343b9" dependencies = [ "anstream", "anstyle", @@ -1981,18 +2006,19 @@ checksum = "5443807d6dff69373d433ab9ef5378ad8df50ca6298caf15de6e52e24aaf54d5" [[package]] name = "erased-serde" -version = "0.4.3" +version = "0.4.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "388979d208a049ffdfb22fa33b9c81942215b940910bccfe258caeb25d125cb3" +checksum = "24e2389d65ab4fab27dc2a5de7b191e1f6617d1f1c8855c0dc569c94a4cbb18d" dependencies = [ "serde", + "typeid", ] [[package]] name = "errno" -version = "0.3.8" +version = "0.3.9" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "a258e46cdc063eb8519c00b9fc845fc47bcfca4130e2f08e88665ceda8474245" +checksum = "534c5cf6194dfab3db3242765c03bbe257cf92f22b38f6bc0c58d59108a820ba" dependencies = [ "libc", "windows-sys 0.52.0", @@ -2006,20 +2032,9 @@ checksum = "0206175f82b8d6bf6652ff7d71a1e27fd2e4efde587fd368662814d6ec1d9ce0" [[package]] name = "event-listener" -version = "4.0.3" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "67b215c49b2b248c855fb73579eb1f4f26c38ffdc12973e20e07b91d78d5646e" -dependencies = [ - "concurrent-queue", - "parking", - "pin-project-lite", -] - -[[package]] -name = "event-listener" -version = "5.1.0" +version = "5.3.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "b7ad6fd685ce13acd6d9541a30f6db6567a7a24c9ffd4ba2955d29e3f22c8b27" +checksum = "6032be9bd27023a771701cc49f9f053c751055f71efb2e0ae5c15809093675ba" dependencies = [ "concurrent-queue", "parking", @@ -2028,21 +2043,11 @@ dependencies = [ [[package]] name = "event-listener-strategy" -version = "0.4.0" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "958e4d70b6d5e81971bebec42271ec641e7ff4e170a6fa605f2b8a8b65cb97d3" -dependencies = [ - "event-listener 4.0.3", - "pin-project-lite", -] - -[[package]] -name = "event-listener-strategy" -version = "0.5.0" +version = "0.5.2" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "feedafcaa9b749175d5ac357452a9d41ea2911da598fde46ce1fe02c37751291" +checksum = "0f214dc438f977e6d4e3500aaa277f5ad94ca83fbbd9b1a15713ce2344ccc5a1" dependencies = [ - "event-listener 5.1.0", + "event-listener 5.3.1", "pin-project-lite", ] @@ -2090,9 +2095,9 @@ dependencies = [ [[package]] name = "fastrand" -version = "2.0.1" +version = "2.1.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "25cbce373ec4653f1a01a31e8a5e5ec0c622dc27ff9c4e6606eefef5cbbed4a5" +checksum = "9fc0510504f03c51ada170672ac806f1f105a88aa97a5281117e1ddc3368e51a" [[package]] name = "feature-probe" @@ -2116,12 +2121,6 @@ version = "1.0.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "31a7a908b8f32538a2143e59a6e4e2508988832d5d4d6f7c156b3cbc762643a5" -[[package]] -name = "finl_unicode" -version = "1.2.0" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "8fcfdc7a0362c9f4444381a9e697c79d435fe65b52a37466fc2c1184cee9edc6" - [[package]] name = "fixedbitset" version = "0.4.2" @@ -2130,9 +2129,9 @@ checksum = "0ce7134b9999ecaf8bcd65542e436736ef32ddca1b3e06094cb6ec5755203b80" [[package]] name = "flate2" -version = "1.0.28" +version = "1.0.30" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "46303f565772937ffe1d394a4fac6f411c6013172fadde9dcdb1e147a086940e" +checksum = "5f54427cfd1c7829e2a139fcefea601bf088ebca651d2bf53ebc600eac295dae" dependencies = [ "crc32fast", "miniz_oxide", @@ -2233,11 +2232,11 @@ dependencies = [ [[package]] name = "futures-lite" -version = "2.2.0" +version = "2.3.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "445ba825b27408685aaecefd65178908c36c6e96aaf6d8599419d46e624192ba" +checksum = "52527eb5074e35e9339c6b4e8d12600c7128b68fb25dcb9fa9dec18f7c25f3a5" dependencies = [ - "fastrand 2.0.1", + "fastrand 2.1.0", "futures-core", "futures-io", "parking", @@ -2252,7 +2251,7 @@ checksum = "87750cf4b7a4c0625b1529e4c543c2182106e4dedc60a2a6455e00d212c489ac" dependencies = [ "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] @@ -2312,32 +2311,20 @@ dependencies = [ [[package]] name = "getrandom" -version = "0.2.12" +version = "0.2.15" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "190092ea657667030ac6a35e305e62fc4dd69fd98ac98631e5d3a2b1575a12b5" +checksum = "c4567c8db10ae91089c99af84c68c38da3ec2f087c3f82960bcdbf3656b6f4d7" dependencies = [ "cfg-if", "libc", "wasi", ] -[[package]] -name = "getset" -version = "0.1.2" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "e45727250e75cc04ff2846a66397da8ef2b3db8e40e0cef4df67950a07621eb9" -dependencies = [ - "proc-macro-error", - "proc-macro2", - "quote", - "syn 1.0.109", -] - [[package]] name = "gimli" -version = "0.28.1" +version = "0.29.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "4271d37baee1b8c7e4b708028c57d816cf9d2434acb33a549475f78c181f6253" +checksum = "40ecd4077b5ae9fd2e9e169b102c6c330d0605168eb0e8bf79952b256dbefffd" [[package]] name = "glob" @@ -2370,16 +2357,16 @@ dependencies = [ [[package]] name = "h2" -version = "0.3.24" +version = "0.3.26" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "bb2c4422095b67ee78da96fbb51a4cc413b3b25883c7717ff7ca1ab31022c9c9" +checksum = "81fe527a889e1532da5c525686d96d4c2e74cdd345badf8dfef9f6b39dd5f5e8" dependencies = [ "bytes", "fnv", "futures-core", "futures-sink", "futures-util", - "http 0.2.11", + "http 0.2.12", "indexmap 2.2.6", "slab", "tokio", @@ -2398,9 +2385,9 @@ dependencies = [ [[package]] name = "hashbrown" -version = "0.14.3" +version = "0.14.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "290f1a1d9242c78d09ce40a5e87e7554ee637af1351968159f4952f028f75604" +checksum = "e5274423e17b7c9fc20b6e7e208532f9b19825d82dfd615708b70edd83df41f1" dependencies = [ "ahash 0.8.11", "allocator-api2", @@ -2408,11 +2395,11 @@ dependencies = [ [[package]] name = "hashlink" -version = "0.8.4" +version = "0.9.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "e8094feaf31ff591f651a2664fb9cfd92bba7a60ce3197265e9482ebe753c8f7" +checksum = "6ba4ff7128dee98c7dc9794b6a411377e1404dba1c97deb8d1a55297bd25d8af" dependencies = [ - "hashbrown 0.14.3", + "hashbrown 0.14.5", ] [[package]] @@ -2429,9 +2416,9 @@ checksum = "2304e00983f87ffb38b55b444b5e3b60a884b5d30c0fca7d82fe33449bbe55ea" [[package]] name = "hermit-abi" -version = "0.3.8" +version = "0.3.9" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "379dada1584ad501b383485dd706b8afb7a70fcbc7f4da7d780638a5a6124a60" +checksum = "d231dfb89cfffdbc30e7fc41579ed6066ad03abda9e567ccafae602b97ec5024" [[package]] name = "hex" @@ -2441,13 +2428,15 @@ checksum = "7f24254aa9a54b5c858eaee2f5bccdb46aaf0e486a595ed5fd8f86ba55232a70" [[package]] name = "hgvs" -version = "0.16.0" +version = "0.16.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "2dbe0946a5ab6cec23e35e8b485f64b239beb93cf4d098e5d76ebc3fcc2b8a54" +checksum = "c860777179557614169d38d0ef292aff2e14aa2a95464dba6654c6753b4d0998" dependencies = [ + "ahash 0.8.11", "base16ct 0.2.0", "bio", "biocommons-bioutils", + "cached", "chrono", "enum-map", "flate2", @@ -2475,20 +2464,11 @@ dependencies = [ "digest", ] -[[package]] -name = "home" -version = "0.5.9" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "e3d1354bf6b7235cb4a0576c2619fd4ed18183f689b12b006a0ee7329eeff9a5" -dependencies = [ - "windows-sys 0.52.0", -] - [[package]] name = "http" -version = "0.2.11" +version = "0.2.12" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "8947b1a6fad4393052c7ba1f4cd97bed3e953a95c79c92ad9b051a04611d9fbb" +checksum = "601cbb57e577e2f5ef5be8e7b83f0f63994f25aa94d673e54a92d5c516d101f1" dependencies = [ "bytes", "fnv", @@ -2513,7 +2493,7 @@ source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "7ceab25649e9960c0311ea418d17bee82c0dcec1bd053b5f9a66e265a693bed2" dependencies = [ "bytes", - "http 0.2.11", + "http 0.2.12", "pin-project-lite", ] @@ -2529,12 +2509,12 @@ dependencies = [ [[package]] name = "http-body-util" -version = "0.1.1" +version = "0.1.2" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "0475f8b2ac86659c21b64320d5d653f9efe42acd2a4e560073ec61a155a34f1d" +checksum = "793429d76616a256bcb62c2a2ec2bed781c8307e797e2598c50010f2bee2544f" dependencies = [ "bytes", - "futures-core", + "futures-util", "http 1.1.0", "http-body 1.0.0", "pin-project-lite", @@ -2566,22 +2546,22 @@ checksum = "a17b27f28a7466846baca75f0a5244e546e44178eb7f1c07a3820f413e91c6b0" [[package]] name = "hyper" -version = "0.14.28" +version = "0.14.29" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "bf96e135eb83a2a8ddf766e426a841d8ddd7449d5f00d34ea02b41d2f19eef80" +checksum = "f361cde2f109281a220d4307746cdfd5ee3f410da58a70377762396775634b33" dependencies = [ "bytes", "futures-channel", "futures-core", "futures-util", "h2", - "http 0.2.11", + "http 0.2.12", "http-body 0.4.6", "httparse", "httpdate", "itoa", "pin-project-lite", - "socket2 0.5.6", + "socket2 0.5.7", "tokio", "tower-service", "tracing", @@ -2595,7 +2575,7 @@ source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "ec3efd23720e2049821a693cbc7e65ea87c72f1c58ff2f9522ff332b1491e590" dependencies = [ "futures-util", - "http 0.2.11", + "http 0.2.12", "hyper", "log", "rustls", @@ -2627,6 +2607,124 @@ dependencies = [ "cc", ] +[[package]] +name = "icu_collections" +version = "1.5.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "db2fa452206ebee18c4b5c2274dbf1de17008e874b4dc4f0aea9d01ca79e4526" +dependencies = [ + "displaydoc", + "yoke", + "zerofrom", + "zerovec", +] + +[[package]] +name = "icu_locid" +version = "1.5.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "13acbb8371917fc971be86fc8057c41a64b521c184808a698c02acc242dbf637" +dependencies = [ + "displaydoc", + "litemap", + "tinystr", + "writeable", + "zerovec", +] + +[[package]] +name = "icu_locid_transform" +version = "1.5.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "01d11ac35de8e40fdeda00d9e1e9d92525f3f9d887cdd7aa81d727596788b54e" +dependencies = [ + "displaydoc", + "icu_locid", + "icu_locid_transform_data", + "icu_provider", + "tinystr", + "zerovec", +] + +[[package]] +name = "icu_locid_transform_data" +version = "1.5.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "fdc8ff3388f852bede6b579ad4e978ab004f139284d7b28715f773507b946f6e" + +[[package]] +name = "icu_normalizer" +version = "1.5.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "19ce3e0da2ec68599d193c93d088142efd7f9c5d6fc9b803774855747dc6a84f" +dependencies = [ + "displaydoc", + "icu_collections", + "icu_normalizer_data", + "icu_properties", + "icu_provider", + "smallvec", + "utf16_iter", + "utf8_iter", + "write16", + "zerovec", +] + +[[package]] +name = "icu_normalizer_data" +version = "1.5.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "f8cafbf7aa791e9b22bec55a167906f9e1215fd475cd22adfcf660e03e989516" + +[[package]] +name = "icu_properties" +version = "1.5.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "1f8ac670d7422d7f76b32e17a5db556510825b29ec9154f235977c9caba61036" +dependencies = [ + "displaydoc", + "icu_collections", + "icu_locid_transform", + "icu_properties_data", + "icu_provider", + "tinystr", + "zerovec", +] + +[[package]] +name = "icu_properties_data" +version = "1.5.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "67a8effbc3dd3e4ba1afa8ad918d5684b8868b3b26500753effea8d2eed19569" + +[[package]] +name = "icu_provider" +version = "1.5.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "6ed421c8a8ef78d3e2dbc98a973be2f3770cb42b606e3ab18d6237c4dfde68d9" +dependencies = [ + "displaydoc", + "icu_locid", + "icu_provider_macros", + "stable_deref_trait", + "tinystr", + "writeable", + "yoke", + "zerofrom", + "zerovec", +] + +[[package]] +name = "icu_provider_macros" +version = "1.5.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "1ec89e9337638ecdc08744df490b221a7399bf8d164eb52a665454e60e075ad6" +dependencies = [ + "proc-macro2", + "quote", + "syn 2.0.66", +] + [[package]] name = "ident_case" version = "1.0.1" @@ -2635,12 +2733,14 @@ checksum = "b9e0384b61958566e926dc50660321d12159025e767c18e043daf26b70104c39" [[package]] name = "idna" -version = "0.5.0" +version = "1.0.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "634d9b1461af396cad843f47fdba5597a4f9e6ddd4bfb6ff5d85028c25cb12f6" +checksum = "4716a3a0933a1d01c2f72450e89596eb51dd34ef3c211ccd875acdf1f8fe47ed" dependencies = [ - "unicode-bidi", - "unicode-normalization", + "icu_normalizer", + "icu_properties", + "smallvec", + "utf8_iter", ] [[package]] @@ -2661,7 +2761,7 @@ source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "168fb715dda47215e360912c096649d23d58bf392ac62f73919e831745e40f26" dependencies = [ "equivalent", - "hashbrown 0.14.3", + "hashbrown 0.14.5", "serde", ] @@ -2681,23 +2781,22 @@ dependencies = [ [[package]] name = "insta" -version = "1.36.1" +version = "1.39.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "0a7c22c4d34ef4788c351e971c52bfdfe7ea2766f8c5466bc175dd46e52ac22e" +checksum = "810ae6042d48e2c9e9215043563a58a80b877bc863228a74cf10c49d4620a6f5" dependencies = [ "console", "lazy_static", "linked-hash-map", "serde", "similar", - "yaml-rust", ] [[package]] name = "instant" -version = "0.1.12" +version = "0.1.13" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "7a5bbe824c507c5da5956355e86a746d82e0e1464f65d862cc5e71da70e94b2c" +checksum = "e0242819d153cba4b4b05a5a8f2a7e9bbf97b6055b2a002b395c96b5ff3c0222" dependencies = [ "cfg-if", ] @@ -2713,6 +2812,12 @@ dependencies = [ "windows-sys 0.48.0", ] +[[package]] +name = "is_terminal_polyfill" +version = "1.70.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "f8478577c03552c21db0e2724ffb8986a5ce7af88107e6be5d2ee6e158c12800" + [[package]] name = "itertools" version = "0.11.0" @@ -2731,6 +2836,15 @@ dependencies = [ "either", ] +[[package]] +name = "itertools" +version = "0.13.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "413ee7dfc52ee1a4949ceeb7dbc8a33f2d6c088194d9f922fb8318faf1f01186" +dependencies = [ + "either", +] + [[package]] name = "itertools-num" version = "0.1.3" @@ -2742,15 +2856,24 @@ dependencies = [ [[package]] name = "itoa" -version = "1.0.10" +version = "1.0.11" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "b1a46d1a171d865aa5f83f92695765caa047a9b4cbae2cbf37dbd613a793fd4c" +checksum = "49f1f14873335454500d59611f1cf4a4b0f786f9ac11f4312a78e4cf2566695b" + +[[package]] +name = "jobserver" +version = "0.1.31" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "d2b099aaa34a9751c5bf0878add70444e1ed2dd73f347be99003d4577277de6e" +dependencies = [ + "libc", +] [[package]] name = "js-sys" -version = "0.3.68" +version = "0.3.69" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "406cda4b368d531c842222cf9d2600a9a4acce8d29423695379c6868a143a9ee" +checksum = "29c15563dc2726973df627357ce0c9ddddbea194836909d655df6a75d2cf296d" dependencies = [ "wasm-bindgen", ] @@ -2793,20 +2916,84 @@ version = "1.3.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "830d08ce1d1d941e6b30645f1a0eb5643013d835ce3779a5fc208261dbe10f55" +[[package]] +name = "lexical-core" +version = "0.8.5" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "2cde5de06e8d4c2faabc400238f9ae1c74d5412d03a7bd067645ccbc47070e46" +dependencies = [ + "lexical-parse-float", + "lexical-parse-integer", + "lexical-util", + "lexical-write-float", + "lexical-write-integer", +] + +[[package]] +name = "lexical-parse-float" +version = "0.8.5" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "683b3a5ebd0130b8fb52ba0bdc718cc56815b6a097e28ae5a6997d0ad17dc05f" +dependencies = [ + "lexical-parse-integer", + "lexical-util", + "static_assertions", +] + +[[package]] +name = "lexical-parse-integer" +version = "0.8.6" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "6d0994485ed0c312f6d965766754ea177d07f9c00c9b82a5ee62ed5b47945ee9" +dependencies = [ + "lexical-util", + "static_assertions", +] + +[[package]] +name = "lexical-util" +version = "0.8.5" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "5255b9ff16ff898710eb9eb63cb39248ea8a5bb036bea8085b1a767ff6c4e3fc" +dependencies = [ + "static_assertions", +] + +[[package]] +name = "lexical-write-float" +version = "0.8.5" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "accabaa1c4581f05a3923d1b4cfd124c329352288b7b9da09e766b0668116862" +dependencies = [ + "lexical-util", + "lexical-write-integer", + "static_assertions", +] + +[[package]] +name = "lexical-write-integer" +version = "0.8.5" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "e1b6f3d1f4422866b68192d62f77bc5c700bee84f3069f2469d7bc8c77852446" +dependencies = [ + "lexical-util", + "static_assertions", +] + [[package]] name = "libc" -version = "0.2.153" +version = "0.2.155" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "9c198f91728a82281a64e1f4f9eeb25d82cb32a5de251c6bd1b5154d63a8e7bd" +checksum = "97b3888a4aecf77e811145cadf6eef5901f4782c53886191b2f693f24761847c" [[package]] name = "libloading" -version = "0.8.1" +version = "0.8.3" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "c571b676ddfc9a8c12f1f3d3085a7b163966a8fd8098a90640953ce5f6170161" +checksum = "0c2a198fb6b0eada2a8df47933734e6d35d350665a33a3593d7164fa52c75c19" dependencies = [ "cfg-if", - "windows-sys 0.48.0", + "windows-targets 0.52.5", ] [[package]] @@ -2817,20 +3004,19 @@ checksum = "4ec2a862134d2a7d32d7983ddcdd1c4923530833c9f2ea1a44fc5fa473989058" [[package]] name = "libredox" -version = "0.0.1" +version = "0.1.3" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "85c833ca1e66078851dba29046874e38f08b2c883700aa29a03ddd3b23814ee8" +checksum = "c0ff37bd590ca25063e35af745c343cb7a0271906fb7b37e4813e8f79f00268d" dependencies = [ - "bitflags 2.4.2", + "bitflags 2.5.0", "libc", - "redox_syscall", ] [[package]] name = "librocksdb-sys" -version = "0.11.0+8.1.1" +version = "0.16.0+8.10.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "d3386f101bcb4bd252d8e9d2fb41ec3b0862a15a62b478c355b2982efa469e3e" +checksum = "ce3d60bc059831dc1c83903fb45c103f75db65c5a7bf22272764d9cc683e348c" dependencies = [ "bindgen", "bzip2-sys", @@ -2844,9 +3030,9 @@ dependencies = [ [[package]] name = "libsqlite3-sys" -version = "0.27.0" +version = "0.28.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "cf4e226dcd58b4be396f7bd3c20da8fdee2911400705297ba7d2d7cc2c30f716" +checksum = "0c10584274047cb335c23d3e61bcef8e323adae7c5c8c760540f73610177fc3f" dependencies = [ "pkg-config", "vcpkg", @@ -2854,9 +3040,9 @@ dependencies = [ [[package]] name = "libz-sys" -version = "1.1.15" +version = "1.1.18" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "037731f5d3aaa87a5675e895b63ddff1a87624bc29f77004ea829809654e48f6" +checksum = "c15da26e5af7e25c90b37a2d75cdbf940cf4a55316de9d84c679c9b8bfabf82e" dependencies = [ "cc", "pkg-config", @@ -2877,9 +3063,15 @@ checksum = "ef53942eb7bf7ff43a617b3e2c1c4a5ecf5944a7c1bc12d7ee39bbb15e5c1519" [[package]] name = "linux-raw-sys" -version = "0.4.13" +version = "0.4.14" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "78b3ae25bc7c8c38cec158d1f2757ee79e9b3740fbc7ccf0e59e4b08d793fa89" + +[[package]] +name = "litemap" +version = "0.7.3" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "01cda141df6706de531b6c46c3a33ecca755538219bd484262fa09410c13539c" +checksum = "643cb0b8d4fcc284004d5fd0d67ccf61dfffadb7f75e1e71bc420f4688a3a704" [[package]] name = "local-channel" @@ -2900,9 +3092,9 @@ checksum = "4d873d7c67ce09b42110d801813efbc9364414e356be9935700d368351657487" [[package]] name = "lock_api" -version = "0.4.11" +version = "0.4.12" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "3c168f8615b12bc01f9c17e2eb0cc07dcae1940121185446edc3744920e8ef45" +checksum = "07af8b9cdd281b7915f413fa73f29ebd5d55d0d3f0155584dade1ff18cea1b17" dependencies = [ "autocfg", "scopeguard", @@ -2923,19 +3115,30 @@ version = "0.12.3" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "d3262e75e648fce39813cb56ac41f3c3e3f65217ebf3844d818d1f9398cfb0dc" dependencies = [ - "hashbrown 0.14.3", + "hashbrown 0.14.5", ] [[package]] name = "lz4-sys" -version = "1.9.4" +version = "1.9.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "57d27b317e207b10f69f5e75494119e391a96f48861ae870d1da6edac98ca900" +checksum = "e9764018d143cc854c9f17f0b907de70f14393b1f502da6375dce70f00514eb3" dependencies = [ "cc", "libc", ] +[[package]] +name = "lzma-sys" +version = "0.1.20" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "5fda04ab3764e6cde78b9974eec4f779acaba7c4e84b36eca3cf77c581b85d27" +dependencies = [ + "cc", + "libc", + "pkg-config", +] + [[package]] name = "matchers" version = "0.1.0" @@ -2967,9 +3170,9 @@ dependencies = [ [[package]] name = "mehari" -version = "0.25.4" +version = "0.25.7" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "b1dfc6c2a062e7fc11233cc14a5b08f949b118e04e27ca3ded791a190c9373b9" +checksum = "5eb3776b15b1b0d1199cd1c60fdeb806aee0fd9a56d064992ee566d1f9fe43c7" dependencies = [ "actix-web", "annonars", @@ -2983,25 +3186,23 @@ dependencies = [ "chrono", "clap", "clap-verbosity-flag", + "coz", "csv", "derivative", - "derive_builder 0.13.1", + "derive_builder", + "dhat", "env_logger", "flate2", "futures", "hgvs", "indexmap 2.2.6", "indicatif", + "itertools 0.13.0", "jsonl", "lazy_static", "log", "nom", - "noodles-bgzf", - "noodles-core", - "noodles-csi", - "noodles-fasta 0.33.0", - "noodles-tabix", - "noodles-vcf", + "noodles", "parse-display", "pbjson", "pbjson-build", @@ -3031,9 +3232,9 @@ dependencies = [ [[package]] name = "memchr" -version = "2.7.1" +version = "2.7.4" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "523dc4f511e55ab87b694dc30d0f820d60906ef06413f93d4d7a1385599cc149" +checksum = "78ca9ab1a0babb1e7d5695e3530886289c18cf2f87ec19a575a0abdce112e3a3" [[package]] name = "mime" @@ -3049,18 +3250,24 @@ checksum = "68354c5c6bd36d73ff3feceb05efa59b6acb7626617f4962be322a825e61f79a" [[package]] name = "miniz_oxide" -version = "0.7.2" +version = "0.7.3" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "9d811f3e15f28568be3407c8e7fdb6514c1cda3cb30683f15b6a1a1dc4ea14a7" +checksum = "87dfd01fe195c66b572b37921ad8803d010623c0aca821bea2302239d155cdae" dependencies = [ "adler", ] +[[package]] +name = "mintex" +version = "0.1.3" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "9bec4598fddb13cc7b528819e697852653252b760f1228b7642679bf2ff2cd07" + [[package]] name = "mio" -version = "0.8.10" +version = "0.8.11" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "8f3d0b296e374a4e6f3c7b0a1f5a51d748a0d34c85e7dc48fc3fa9a87657fe09" +checksum = "a4a650543ca06a924e8b371db273b2756685faae30f8487da1b56505a8f78b0c" dependencies = [ "libc", "log", @@ -3068,12 +3275,6 @@ dependencies = [ "windows-sys 0.48.0", ] -[[package]] -name = "multimap" -version = "0.8.3" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "e5ce46fe64a9d73be07dcbe690a38ce1b293be448fd8ce1e6c1b8062c9f72c6a" - [[package]] name = "multimap" version = "0.9.1" @@ -3153,20 +3354,76 @@ dependencies = [ "minimal-lexical", ] +[[package]] +name = "noodles" +version = "0.76.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "7a346e5a6000033512105890243ff310a307637ae9d9de317f7480e136549a4d" +dependencies = [ + "noodles-bam", + "noodles-bcf", + "noodles-bed", + "noodles-bgzf", + "noodles-core", + "noodles-cram", + "noodles-csi", + "noodles-fasta", + "noodles-fastq", + "noodles-gff", + "noodles-sam", + "noodles-tabix", + "noodles-vcf", +] + +[[package]] +name = "noodles-bam" +version = "0.63.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "3ede0b1e0b8e0e03f21c692ad38473dfe95c3650317650205c29c9a682c4a5a6" +dependencies = [ + "bit-vec", + "bstr", + "byteorder", + "bytes", + "futures", + "indexmap 2.2.6", + "noodles-bgzf", + "noodles-core", + "noodles-csi", + "noodles-sam", + "tokio", +] + +[[package]] +name = "noodles-bcf" +version = "0.56.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "84399185965e44a6fe2ea499cf2bc81e4e687bde7b39de5e8fa5b72c6a0a0982" +dependencies = [ + "byteorder", + "futures", + "indexmap 2.2.6", + "noodles-bgzf", + "noodles-core", + "noodles-csi", + "noodles-vcf", + "tokio", +] + [[package]] name = "noodles-bed" -version = "0.12.0" +version = "0.14.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "c116ff14e3dd3ffa6c58771d1a2ee1205690e1c0fe78b0a3456402eebf44ad27" +checksum = "1d114cc62a405cc763e0e0607a037e5bb9298e281690f9e10bc2ffc2312f92b3" dependencies = [ "noodles-core", ] [[package]] name = "noodles-bgzf" -version = "0.26.0" +version = "0.30.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "8970db2e84adb1007377dd3988258d7a64e3fc4c05602ebf94e1f8cba207c030" +checksum = "13f54d4840fd26ed94103ded9524aa5fdd757255a556f24653d162c0a45c47e8" dependencies = [ "byteorder", "bytes", @@ -3175,20 +3432,48 @@ dependencies = [ "futures", "pin-project-lite", "tokio", - "tokio-util", + "tokio-util", +] + +[[package]] +name = "noodles-core" +version = "0.15.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "c5a8c6b020d1205abef2b0fab4463a6c5ecc3c8f4d561ca8b0d1a42323376200" +dependencies = [ + "bstr", +] + +[[package]] +name = "noodles-cram" +version = "0.64.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "0139e7b11f63244be14ce5abe53e9379ba25d7a606424dcb0f40b5c31831f6e7" +dependencies = [ + "async-compression", + "bitflags 2.5.0", + "bstr", + "byteorder", + "bytes", + "bzip2", + "flate2", + "futures", + "indexmap 2.2.6", + "md-5", + "noodles-bam", + "noodles-core", + "noodles-fasta", + "noodles-sam", + "pin-project-lite", + "tokio", + "xz2", ] -[[package]] -name = "noodles-core" -version = "0.14.0" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "7336c3be652de4e05444c9b12a32331beb5ba3316e8872d92bfdd8ef3b06c282" - [[package]] name = "noodles-csi" -version = "0.30.0" +version = "0.35.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "a60dfe0919f7ecbd081a82eb1d32e8f89f9041932d035fe8309073c8c01277bf" +checksum = "beb1618ca2aa88662d387197a188686105d6b5e25f6959c52b766276cbfc4620" dependencies = [ "bit-vec", "byteorder", @@ -3200,46 +3485,66 @@ dependencies = [ [[package]] name = "noodles-fasta" -version = "0.32.0" +version = "0.39.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "ebb3e83e0f112d3482f5234a1eb219081f12cc3aab38a9eba00ef1846b43b63b" +checksum = "c3f35c5b39977f95efacb67c3ae4ca00b5229249327bb0e9a980f386cad36d93" dependencies = [ "bytes", "memchr", "noodles-bgzf", "noodles-core", + "tokio", ] [[package]] -name = "noodles-fasta" -version = "0.33.0" +name = "noodles-fastq" +version = "0.11.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "5e9e953e4e90e6c96e6a384598ebf2ab6d2f5add259ff05a194cf635e892c980" +checksum = "fc408c8c4ce6806d2ebadef2fa2fe20f32ec98769f035d637564d6f2d08b7769" dependencies = [ - "bytes", + "futures", "memchr", - "noodles-bgzf", - "noodles-core", + "tokio", ] [[package]] name = "noodles-gff" -version = "0.27.0" +version = "0.33.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "14f8ec87fe3630f57d6d8ea24cbc2cbd0bfed1fe66238bda7a7c3fb6a36d3713" +checksum = "578b6efaf5c3f029720af4c8590e34fd38e214666971d665a52e3566830170d0" dependencies = [ + "futures", "indexmap 2.2.6", "noodles-bgzf", "noodles-core", "noodles-csi", "percent-encoding", + "tokio", +] + +[[package]] +name = "noodles-sam" +version = "0.60.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "0ec6452e8ed9f20ef043dce35e09ed58f1c34834cd941e987458a66e8fa66fa0" +dependencies = [ + "bitflags 2.5.0", + "bstr", + "futures", + "indexmap 2.2.6", + "lexical-core", + "memchr", + "noodles-bgzf", + "noodles-core", + "noodles-csi", + "tokio", ] [[package]] name = "noodles-tabix" -version = "0.36.0" +version = "0.41.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "cc1ab29335a68d0c2bdf41460a67714ca69e23a1cbeb950ac5c38a9afa446a62" +checksum = "0cc110f78cb406f69f42c482d1986526c590b7295f37f0e37f1fc380413400ef" dependencies = [ "bit-vec", "byteorder", @@ -3252,9 +3557,9 @@ dependencies = [ [[package]] name = "noodles-vcf" -version = "0.49.0" +version = "0.59.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "2e1f2fa749afaccadc596ec55ccb7bdcd8101fa79f8382384223c0dbae3e245b" +checksum = "7363b498e8a015db55777ccbc5cb0036182175851443c62ef847c7152c8a9919" dependencies = [ "futures", "indexmap 2.2.6", @@ -3264,6 +3569,7 @@ dependencies = [ "noodles-csi", "noodles-tabix", "percent-encoding", + "pin-project-lite", "tokio", ] @@ -3279,9 +3585,9 @@ dependencies = [ [[package]] name = "num-complex" -version = "0.4.5" +version = "0.4.6" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "23c6602fda94a57c990fe0df199a035d83576b496aa29f4e634a8ac6004e68a6" +checksum = "73f88a1307638156682bada9d7604135552957b7818057dcef22705b4d509495" dependencies = [ "num-traits", ] @@ -3303,20 +3609,19 @@ dependencies = [ [[package]] name = "num-rational" -version = "0.4.1" +version = "0.4.2" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "0638a1c9d0a3c0914158145bc76cff373a75a627e6ecbfb71cbe6f453a5a19b0" +checksum = "f83d14da390562dca69fc84082e73e548e1ad308d24accdedd2720017cb37824" dependencies = [ - "autocfg", "num-integer", "num-traits", ] [[package]] name = "num-traits" -version = "0.2.18" +version = "0.2.19" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "da0df0e5185db44f69b44f26786fe401b6c293d1907744beaa7fa62b2e5a517a" +checksum = "071dfc062690e90b734c0b2273ce72ad0ffa95f0c74596bc250dcfd960262841" dependencies = [ "autocfg", "libm", @@ -3340,9 +3645,9 @@ checksum = "830b246a0e5f20af87141b25c173cd1b609bd7779a4617d6ec582abaf90870f3" [[package]] name = "object" -version = "0.32.2" +version = "0.36.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "a6a622008b6e321afc04970976f62ee297fdbaa6f95318ca343e3eebb9648441" +checksum = "576dfe1fc8f9df304abb159d767a29d0476f7750fbf8aa7ad07816004a207434" dependencies = [ "memchr", ] @@ -3405,9 +3710,9 @@ checksum = "bb813b8af86854136c6922af0598d719255ecb2179515e6e7730d468f05c9cae" [[package]] name = "parking_lot" -version = "0.12.1" +version = "0.12.3" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "3742b2c103b9f06bc9fff0a37ff4912935851bee6d36f3c02bcc755bcfec228f" +checksum = "f1bf18183cf54e8d6059647fc3063646a1801cf30896933ec2311622cc4b9a27" dependencies = [ "lock_api", "parking_lot_core", @@ -3415,47 +3720,47 @@ dependencies = [ [[package]] name = "parking_lot_core" -version = "0.9.9" +version = "0.9.10" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "4c42a9226546d68acdd9c0a280d17ce19bfe27a46bf68784e4066115788d008e" +checksum = "1e401f977ab385c9e4e3ab30627d6f26d00e2c73eef317493c4ec6d468726cf8" dependencies = [ "cfg-if", "libc", - "redox_syscall", + "redox_syscall 0.5.1", "smallvec", - "windows-targets 0.48.5", + "windows-targets 0.52.5", ] [[package]] name = "parse-display" -version = "0.9.0" +version = "0.9.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "06af5f9333eb47bd9ba8462d612e37a8328a5cb80b13f0af4de4c3b89f52dee5" +checksum = "914a1c2265c98e2446911282c6ac86d8524f495792c38c5bd884f80499c7538a" dependencies = [ "parse-display-derive", "regex", - "regex-syntax 0.8.2", + "regex-syntax 0.8.4", ] [[package]] name = "parse-display-derive" -version = "0.9.0" +version = "0.9.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "dc9252f259500ee570c75adcc4e317fa6f57a1e47747d622e0bf838002a7b790" +checksum = "2ae7800a4c974efd12df917266338e79a7a74415173caf7e70aa0a0707345281" dependencies = [ "proc-macro2", "quote", "regex", - "regex-syntax 0.8.2", + "regex-syntax 0.8.4", "structmeta", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] name = "paste" -version = "1.0.14" +version = "1.0.15" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "de3145af08024dea9fa9914f381a17b8fc6034dfb00f3a84013f7ff43f29ed4c" +checksum = "57c0d7b74b563b49d38dae00a0c37d4d6de9b432382b2892f0574ddcae73fd0a" [[package]] name = "pbjson" @@ -3463,7 +3768,7 @@ version = "0.6.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "1030c719b0ec2a2d25a5df729d6cff1acf3cc230bf766f4f97833591f7577b90" dependencies = [ - "base64", + "base64 0.21.7", "serde", ] @@ -3494,12 +3799,6 @@ dependencies = [ "serde", ] -[[package]] -name = "peeking_take_while" -version = "0.1.2" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "19b17cddbe7ec3f8bc800887bab5e717348c95ea2ca0b1bf0837fb964dc67099" - [[package]] name = "percent-encoding" version = "2.3.1" @@ -3508,9 +3807,9 @@ checksum = "e3148f5046208a5d56bcfc03053e3ca6334e51da8dfb19b6cdc8b306fae3283e" [[package]] name = "petgraph" -version = "0.6.4" +version = "0.6.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "e1d3afd2628e69da2be385eb6f2fd57c8ac7977ceeff6dc166ff1657b0e386a9" +checksum = "b4c5cc86750666a3ed20bdaf5ca2a0344f9c67674cae0515bec2da16fbaa47db" dependencies = [ "fixedbitset", "indexmap 2.2.6", @@ -3536,9 +3835,9 @@ dependencies = [ [[package]] name = "pin-project-lite" -version = "0.2.13" +version = "0.2.14" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "8afb450f006bf6385ca15ef45d71d2288452bc3683ce2e2cacc0d18e4be60b58" +checksum = "bda66fc9667c18cb2758a2ac84d1167245054bcf85d5d1aaa6923f45801bdd02" [[package]] name = "pin-utils" @@ -3548,12 +3847,12 @@ checksum = "8b870d8c151b6f2fb93e84a13146138f05d02ed11c7e7c54f8826aaaf7c9f184" [[package]] name = "piper" -version = "0.2.1" +version = "0.2.3" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "668d31b1c4eba19242f2088b2bf3316b82ca31082a8335764db4e083db7485d4" +checksum = "ae1d5c74c9876f070d3e8fd503d748c7d974c3e48da8f41350fa5222ef9b4391" dependencies = [ "atomic-waker", - "fastrand 2.0.1", + "fastrand 2.1.0", "futures-io", ] @@ -3591,14 +3890,15 @@ dependencies = [ [[package]] name = "polling" -version = "3.5.0" +version = "3.7.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "24f040dee2588b4963afb4e420540439d126f73fdacf4a9c486a96d840bac3c9" +checksum = "5e6a007746f34ed64099e88783b0ae369eaa3da6392868ba262e2af9b8fbaea1" dependencies = [ "cfg-if", "concurrent-queue", + "hermit-abi", "pin-project-lite", - "rustix 0.38.31", + "rustix 0.38.34", "tracing", "windows-sys 0.52.0", ] @@ -3629,7 +3929,7 @@ version = "0.6.6" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "49b6c5ef183cd3ab4ba005f1ca64c21e8bd97ce4699cfea9e8d9a2c4958ca520" dependencies = [ - "base64", + "base64 0.21.7", "byteorder", "bytes", "fallible-iterator 0.2.0", @@ -3677,12 +3977,12 @@ dependencies = [ [[package]] name = "prettyplease" -version = "0.2.16" +version = "0.2.20" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "a41cf62165e97c7f814d2221421dbb9afcbcdb0a88068e5ea206e19951c2cbb5" +checksum = "5f12335488a2f3b0a83b14edad48dca9879ce89b2edd10e80237e4e852dd645e" dependencies = [ "proc-macro2", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] @@ -3703,7 +4003,6 @@ dependencies = [ "proc-macro-error-attr", "proc-macro2", "quote", - "syn 1.0.109", "version_check", ] @@ -3720,9 +4019,9 @@ dependencies = [ [[package]] name = "proc-macro2" -version = "1.0.78" +version = "1.0.85" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "e2422ad645d89c99f8f3e6b88a9fdeca7fabeac836b1002371c4367c8f984aae" +checksum = "22244ce15aa966053a896d1accb3a6e68469b97c7f33f284b99f0d576879fc23" dependencies = [ "unicode-ident", ] @@ -3733,13 +4032,13 @@ version = "0.16.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "731e0d9356b0c25f16f33b5be79b1c57b562f141ebfcdb0ad8ac2c13a24293b4" dependencies = [ - "bitflags 2.4.2", + "bitflags 2.5.0", "chrono", "flate2", "hex", "lazy_static", "procfs-core", - "rustix 0.38.31", + "rustix 0.38.34", ] [[package]] @@ -3748,16 +4047,16 @@ version = "0.16.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "2d3554923a69f4ce04c4a754260c338f505ce22642d3830e049a399fc2059a29" dependencies = [ - "bitflags 2.4.2", + "bitflags 2.5.0", "chrono", "hex", ] [[package]] name = "prost" -version = "0.12.3" +version = "0.12.6" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "146c289cda302b98a28d40c8b3b90498d6e526dd24ac2ecea73e4e491685b94a" +checksum = "deb1435c188b76130da55f17a466d252ff7b1418b2ad3e037d127b94e3411f29" dependencies = [ "bytes", "prost-derive", @@ -3765,44 +4064,43 @@ dependencies = [ [[package]] name = "prost-build" -version = "0.12.3" +version = "0.12.6" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "c55e02e35260070b6f716a2423c2ff1c3bb1642ddca6f99e1f26d06268a0e2d2" +checksum = "22505a5c94da8e3b7c2996394d1c933236c4d743e81a410bcca4e6989fc066a4" dependencies = [ "bytes", - "heck 0.4.1", - "itertools 0.11.0", + "heck 0.5.0", + "itertools 0.12.1", "log", - "multimap 0.8.3", + "multimap 0.10.0", "once_cell", "petgraph", "prettyplease", "prost", "prost-types", "regex", - "syn 2.0.51", + "syn 2.0.66", "tempfile", - "which", ] [[package]] name = "prost-derive" -version = "0.12.3" +version = "0.12.6" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "efb6c9a1dd1def8e2124d17e83a20af56f1570d6c2d2bd9e266ccb768df3840e" +checksum = "81bddcdb20abf9501610992b6759a4c888aef7d1a7247ef75e2404275ac24af1" dependencies = [ "anyhow", - "itertools 0.11.0", + "itertools 0.12.1", "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] name = "prost-types" -version = "0.12.3" +version = "0.12.6" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "193898f59edcf43c26227dcd4c8427f00d99d61e95dcde58dabd49fa291d470e" +checksum = "9091c90b0a32608e984ff2fa4091273cbdd755d54935c51d520887f4a1dbd5b0" dependencies = [ "prost", ] @@ -3829,21 +4127,21 @@ dependencies = [ [[package]] name = "quick_cache" -version = "0.4.1" +version = "0.5.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "58c20af3800cee5134b79a3bd4a3d4b583c16ccfa5f53338f46400851a5b3819" +checksum = "347e1a588d1de074eeb3c00eadff93db4db65aeb62aee852b1efd0949fe65b6c" dependencies = [ "ahash 0.8.11", "equivalent", - "hashbrown 0.14.3", + "hashbrown 0.14.5", "parking_lot", ] [[package]] name = "quote" -version = "1.0.35" +version = "1.0.36" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "291ec9ab5efd934aaf503a6466c5d5251535d108ee747472c3977cc5acc868ef" +checksum = "0fa76aaf39101c457836aec0ce2316dbdc3ab723cdda1c6bd4e6ad4208acaca7" dependencies = [ "proc-macro2", ] @@ -3929,11 +4227,20 @@ dependencies = [ "bitflags 1.3.2", ] +[[package]] +name = "redox_syscall" +version = "0.5.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "469052894dcb553421e483e4209ee581a45100d31b4018de03e5a7ad86374a7e" +dependencies = [ + "bitflags 2.5.0", +] + [[package]] name = "redox_users" -version = "0.4.4" +version = "0.4.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "a18479200779601e498ada4e8c1e1f50e3ee19deb0259c25825a98b5603b2cb4" +checksum = "bd283d9651eeda4b2a83a43c1c91b266c40fd76ecd39a50a8c630ae69dc72891" dependencies = [ "getrandom", "libredox", @@ -3942,14 +4249,14 @@ dependencies = [ [[package]] name = "regex" -version = "1.10.3" +version = "1.10.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "b62dbe01f0b06f9d8dc7d49e05a0785f153b00b2c227856282f671e0318c9b15" +checksum = "b91213439dad192326a0d7c6ee3955910425f441d7038e0d6933b0aec5c4517f" dependencies = [ "aho-corasick", "memchr", - "regex-automata 0.4.5", - "regex-syntax 0.8.2", + "regex-automata 0.4.7", + "regex-syntax 0.8.4", ] [[package]] @@ -3963,20 +4270,20 @@ dependencies = [ [[package]] name = "regex-automata" -version = "0.4.5" +version = "0.4.7" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "5bb987efffd3c6d0d8f5f89510bb458559eab11e4f869acb20bf845e016259cd" +checksum = "38caf58cc5ef2fed281f89292ef23f6365465ed9a41b7a7754eb4e26496c92df" dependencies = [ "aho-corasick", "memchr", - "regex-syntax 0.8.2", + "regex-syntax 0.8.4", ] [[package]] name = "regex-lite" -version = "0.1.5" +version = "0.1.6" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "30b661b2f27137bdbc16f00eda72866a92bb28af1753ffbd56744fb6e2e9cd8e" +checksum = "53a49587ad06b26609c52e423de037e7f57f20d53535d66e08c695f347df952a" [[package]] name = "regex-syntax" @@ -3986,15 +4293,15 @@ checksum = "f162c6dd7b008981e4d40210aca20b4bd0f9b60ca9271061b07f78537722f2e1" [[package]] name = "regex-syntax" -version = "0.8.2" +version = "0.8.4" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "c08c74e62047bb2de4ff487b251e4a92e24f48745648451635cec7d591162d9f" +checksum = "7a66a03ae7c801facd77a29370b4faec201768915ac14a721ba36f20bc9c209b" [[package]] name = "relative-path" -version = "1.9.2" +version = "1.9.3" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "e898588f33fdd5b9420719948f9f2a32c922a246964576f71ba7f24f80610fbc" +checksum = "ba39f3699c378cd8970968dcbff9c43159ea4cfbd88d43c00b22f2ef10a435d2" [[package]] name = "rend" @@ -4062,9 +4369,9 @@ dependencies = [ [[package]] name = "rmp" -version = "0.8.12" +version = "0.8.14" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "7f9860a6cc38ed1da53456442089b4dfa35e7cedaa326df63017af88385e6b20" +checksum = "228ed7c16fa39782c3b3468e974aec2795e9089153cd08ee2e9aefb3613334c4" dependencies = [ "byteorder", "num-traits", @@ -4073,9 +4380,9 @@ dependencies = [ [[package]] name = "rmp-serde" -version = "1.1.2" +version = "1.3.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "bffea85eea980d8a74453e5d02a8d93028f3c34725de143085a844ebe953258a" +checksum = "52e599a477cf9840e92f2cde9a7189e67b42c57532749bf90aea6ec10facd4db" dependencies = [ "byteorder", "rmp", @@ -4084,9 +4391,9 @@ dependencies = [ [[package]] name = "rocksdb" -version = "0.21.0" +version = "0.22.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "bb6f170a4041d50a0ce04b0d2e14916d6ca863ea2e422689a5b694395d299ffe" +checksum = "6bd13e55d6d7b8cd0ea569161127567cd587676c99f4472f779a0279aa60a7a7" dependencies = [ "libc", "librocksdb-sys", @@ -4094,9 +4401,9 @@ dependencies = [ [[package]] name = "rocksdb-utils-lookup" -version = "0.3.0" +version = "0.4.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "b83002edb508bf7fc5b234bde1489ccaea5bffbaeaf0aae00270257c858b5f9f" +checksum = "cfdff1c5ed63d35ce75ffc688318b3b9791c5e16a0c4b1ed8d8400149384f7bf" dependencies = [ "rocksdb", "thiserror", @@ -4128,17 +4435,17 @@ dependencies = [ "regex", "relative-path", "rustc_version 0.4.0", - "syn 2.0.51", + "syn 2.0.66", "unicode-ident", ] [[package]] name = "rusqlite" -version = "0.30.0" +version = "0.31.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "a78046161564f5e7cd9008aff3b2990b3850dc8e0349119b98e8f251e099f24d" +checksum = "b838eba278d213a8beaf485bd313fd580ca4505a00d5871caeb1457c55322cae" dependencies = [ - "bitflags 2.4.2", + "bitflags 2.5.0", "fallible-iterator 0.3.0", "fallible-streaming-iterator", "hashlink", @@ -4148,9 +4455,9 @@ dependencies = [ [[package]] name = "rust_decimal" -version = "1.34.3" +version = "1.35.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "b39449a79f45e8da28c57c341891b69a183044b29518bb8f86dbac9df60bb7df" +checksum = "1790d1c4c0ca81211399e0e0af16333276f375209e71a37b67698a373db5b47a" dependencies = [ "arrayvec", "borsh", @@ -4164,9 +4471,9 @@ dependencies = [ [[package]] name = "rustc-demangle" -version = "0.1.23" +version = "0.1.24" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "d626bb9dae77e28219937af045c257c28bfd3f69333c512553507f5f9798cb76" +checksum = "719b953e2095829ee67db738b3bfa9fa368c94900df327b3f07fe6e794d2fe1f" [[package]] name = "rustc-hash" @@ -4189,7 +4496,7 @@ version = "0.4.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "bfa0f585226d2e68097d4f95d113b15b83a82e819ab25717ec0590d9584ef366" dependencies = [ - "semver 1.0.22", + "semver 1.0.23", ] [[package]] @@ -4208,22 +4515,22 @@ dependencies = [ [[package]] name = "rustix" -version = "0.38.31" +version = "0.38.34" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "6ea3e1a662af26cd7a3ba09c0297a31af215563ecf42817c98df621387f4e949" +checksum = "70dc5ec042f7a43c4a73241207cecc9873a06d45debb38b329f8541d85c2730f" dependencies = [ - "bitflags 2.4.2", + "bitflags 2.5.0", "errno", "libc", - "linux-raw-sys 0.4.13", + "linux-raw-sys 0.4.14", "windows-sys 0.52.0", ] [[package]] name = "rustls" -version = "0.21.10" +version = "0.21.12" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "f9d5a6813c0759e4609cd494e8e725babae6a2ca7b62a5536a13daaec6fcb7ba" +checksum = "3f56a14d1f48b391359b22f731fd4bd7e43c97f3c50eee276f3aa09c94784d3e" dependencies = [ "log", "ring", @@ -4249,7 +4556,7 @@ version = "1.0.4" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "1c74cae0a4cf6ccbbf5f359f08efdf8ee7e1dc532573bf0db71968cb56b1448c" dependencies = [ - "base64", + "base64 0.21.7", ] [[package]] @@ -4264,15 +4571,15 @@ dependencies = [ [[package]] name = "rustversion" -version = "1.0.14" +version = "1.0.17" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "7ffc183a10b4478d04cbbbfc96d0873219d962dd5accaff2ffbd4ceb7df837f4" +checksum = "955d28af4278de8121b7ebeb796b6a45735dc01436d898801014aced2773a3d6" [[package]] name = "ryu" -version = "1.0.17" +version = "1.0.18" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "e86697c916019a8588c99b5fac3cead74ec0b4b819707a682fd4d23fa0ce1ba1" +checksum = "f3cb5ba0dc43242ce17de99c180e96db90b235b8a9fdc9543c96d2209116bd9f" [[package]] name = "safe_arch" @@ -4330,11 +4637,11 @@ dependencies = [ [[package]] name = "security-framework" -version = "2.9.2" +version = "2.11.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "05b64fb303737d99b81884b2c63433e9ae28abebe5eb5045dcdd175dc2ecf4de" +checksum = "c627723fd09706bacdb5cf41499e95098555af3c3c29d014dc3c458ef6be11c0" dependencies = [ - "bitflags 1.3.2", + "bitflags 2.5.0", "core-foundation", "core-foundation-sys", "libc", @@ -4343,9 +4650,9 @@ dependencies = [ [[package]] name = "security-framework-sys" -version = "2.9.1" +version = "2.11.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "e932934257d3b408ed8f30db49d85ea163bfe74961f017f405b025af298f0c7a" +checksum = "317936bbbd05227752583946b9e66d7ce3b489f84e11a94a510b4437fef407d7" dependencies = [ "core-foundation-sys", "libc", @@ -4359,20 +4666,18 @@ checksum = "d4f410fedcf71af0345d7607d246e7ad15faaadd49d240ee3b24e5dc21a820ac" [[package]] name = "semver" -version = "1.0.22" +version = "1.0.23" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "92d43fe69e652f3df9bdc2b85b2854a0825b86e4fb76bc44d945137d053639ca" +checksum = "61697e0a1c7e512e84a621326239844a24d8207b4669b41bc18b32ea5cbf988b" [[package]] name = "seqrepo" -version = "0.10.0" +version = "0.10.2" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "88f98fe096b30d454f0dc995ad206d67356ea23292128380252f8d76b62d4c17" +checksum = "e9bad563692d6dc960f5a22a77b8efd212fdf38d2c09645246426c96ea615541" dependencies = [ "chrono", - "noodles-bgzf", - "noodles-core", - "noodles-fasta 0.32.0", + "noodles", "rusqlite", "thiserror", "tracing", @@ -4380,22 +4685,22 @@ dependencies = [ [[package]] name = "serde" -version = "1.0.197" +version = "1.0.203" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "3fb1c873e1b9b056a4dc4c0c198b24c3ffa059243875552b2bd0933b1aee4ce2" +checksum = "7253ab4de971e72fb7be983802300c30b5a7f0c2e56fab8abfc6a214307c0094" dependencies = [ "serde_derive", ] [[package]] name = "serde_derive" -version = "1.0.197" +version = "1.0.203" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "7eb0b34b42edc17f6b7cac84a52a1c5f0e1bb2227e997ca9011ea3dd34e8610b" +checksum = "500cbc0ebeb6f46627f50f3f5811ccf6bf00643be300b4c3eabc0ef55dc5b5ba" dependencies = [ "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] @@ -4433,11 +4738,11 @@ dependencies = [ [[package]] name = "serde_with" -version = "3.6.1" +version = "3.8.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "15d167997bd841ec232f5b2b8e0e26606df2e7caa4c31b95ea9ca52b200bd270" +checksum = "0ad483d2ab0149d5a5ebcd9972a3852711e0153d863bf5a5d0391d28883c4a20" dependencies = [ - "base64", + "base64 0.22.1", "chrono", "hex", "indexmap 1.9.3", @@ -4451,21 +4756,21 @@ dependencies = [ [[package]] name = "serde_with_macros" -version = "3.6.1" +version = "3.8.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "865f9743393e638991566a8b7a479043c2c8da94a33e0a31f18214c9cae0a64d" +checksum = "65569b702f41443e8bc8bbb1c5779bd0450bbe723b56198980e80ec45780bce2" dependencies = [ - "darling 0.20.8", + "darling", "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] name = "serde_yaml" -version = "0.9.32" +version = "0.9.34+deprecated" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "8fd075d994154d4a774f95b51fb96bdc2832b0ea48425c92546073816cda1f2f" +checksum = "6a8b1a1a2ebf674015cc02edccce75287f1a0130d394307b36743c2f5d504b47" dependencies = [ "indexmap 2.2.6", "itoa", @@ -4522,9 +4827,9 @@ checksum = "0fda2ff0d084019ba4d7c6f371c95d8fd75ce3524c3cb8fb653a3023f6323e64" [[package]] name = "signal-hook-registry" -version = "1.4.1" +version = "1.4.2" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "d8229b473baa5980ac72ef434c4415e70c4b5e71b423043adb4ba059f89c99a1" +checksum = "a9e9e0b4211b72e7b8b6e85c807d36c212bdb33ea8587f7569562a84df5465b1" dependencies = [ "libc", ] @@ -4560,9 +4865,9 @@ checksum = "f27f6278552951f1f2b8cf9da965d10969b2efdea95a6ec47987ab46edfe263a" [[package]] name = "similar" -version = "2.4.0" +version = "2.5.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "32fea41aca09ee824cc9724996433064c89f7777e60762749a4170a14abbfa21" +checksum = "fa42c91313f1d05da9b26f267f931cf178d4aba455b4c4622dd7355eb80c6640" [[package]] name = "siphasher" @@ -4581,9 +4886,9 @@ dependencies = [ [[package]] name = "smallvec" -version = "1.13.1" +version = "1.13.2" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "e6ecd384b10a64542d77071bd64bd7b231f4ed5940fba55e98c3de13824cf3d7" +checksum = "3c5e1a9a646d36c3599cd173a41282daf47c44583ad367b8e6837255952e5c67" [[package]] name = "socket2" @@ -4597,9 +4902,9 @@ dependencies = [ [[package]] name = "socket2" -version = "0.5.6" +version = "0.5.7" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "05ffd9c0a93b7543e062e759284fcf5f5e3b098501104bfbdde4d404db792871" +checksum = "ce305eb0b4296696835b71df73eb912e0f1ffd2556a501fcede6e0c50349191c" dependencies = [ "libc", "windows-sys 0.52.0", @@ -4621,11 +4926,23 @@ dependencies = [ "der", ] +[[package]] +name = "stable_deref_trait" +version = "1.2.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "a8f112729512f8e442d81f95a8a7ddf2b7c6b8a1a6f509a95864142b30cab2d3" + +[[package]] +name = "static_assertions" +version = "1.1.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "a2eb9349b6444b326872e140eb1cf5e7c522154d69e7a0ffb0fb81c06b37543f" + [[package]] name = "statrs" -version = "0.16.0" +version = "0.16.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "2d08e5e1748192713cc281da8b16924fb46be7b0c2431854eadc785823e5696e" +checksum = "b35a062dbadac17a42e0fc64c27f419b25d6fae98572eb43c8814c9e873d7721" dependencies = [ "approx", "lazy_static", @@ -4636,26 +4953,20 @@ dependencies = [ [[package]] name = "stringprep" -version = "0.1.4" +version = "0.1.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "bb41d74e231a107a1b4ee36bd1214b11285b77768d2e3824aedafa988fd36ee6" +checksum = "7b4df3d392d81bd458a8a621b8bffbd2302a12ffe288a9d931670948749463b1" dependencies = [ - "finl_unicode", "unicode-bidi", "unicode-normalization", + "unicode-properties", ] [[package]] name = "strsim" -version = "0.10.0" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "73473c0e59e6d5812c5dfe2a064a6444949f089e20eec9a2e5506596494e4623" - -[[package]] -name = "strsim" -version = "0.11.0" +version = "0.11.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "5ee073c9e4cd00e28217186dbe12796d692868f432bf2e97ee73bed0c56dfa01" +checksum = "7da8b5736845d9f2fcb837ea5d9e2628564b3b043a70948a3f0b778838c5fb4f" [[package]] name = "structmeta" @@ -4666,7 +4977,7 @@ dependencies = [ "proc-macro2", "quote", "structmeta-derive", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] @@ -4677,7 +4988,7 @@ checksum = "152a0b65a590ff6c3da95cabe2353ee04e6167c896b28e3b14478c2636c922fc" dependencies = [ "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] @@ -4692,7 +5003,7 @@ version = "0.26.2" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "5d8cec3501a5194c432b2b7976db6b7d10ec95c253208b45f83f7136aa985e29" dependencies = [ - "strum_macros 0.26.2", + "strum_macros 0.26.4", ] [[package]] @@ -4705,20 +5016,20 @@ dependencies = [ "proc-macro2", "quote", "rustversion", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] name = "strum_macros" -version = "0.26.2" +version = "0.26.4" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "c6cf59daf282c0a494ba14fd21610a0325f9f90ec9d1231dea26bcb1d696c946" +checksum = "4c6bee85a5a24955dc440386795aa378cd9cf82acd5f764469152d2270e581be" dependencies = [ - "heck 0.4.1", + "heck 0.5.0", "proc-macro2", "quote", "rustversion", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] @@ -4740,9 +5051,9 @@ dependencies = [ [[package]] name = "syn" -version = "2.0.51" +version = "2.0.66" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "6ab617d94515e94ae53b8406c628598680aa0c9587474ecbe58188f7b345d66c" +checksum = "c42f3f41a2de00b01c0aaad383c5a45241efc8b2d1eda5661812fda5f3cdcff5" dependencies = [ "proc-macro2", "quote", @@ -4758,7 +5069,18 @@ dependencies = [ "proc-macro-error", "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", +] + +[[package]] +name = "synstructure" +version = "0.13.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "c8af7666ab7b6390ab78131fb5b0fce11d6b7a6951602017c35fa82800708971" +dependencies = [ + "proc-macro2", + "quote", + "syn 2.0.66", ] [[package]] @@ -4780,29 +5102,29 @@ source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "85b77fafb263dd9d05cbeac119526425676db3784113aa9295c88498cbf8bff1" dependencies = [ "cfg-if", - "fastrand 2.0.1", - "rustix 0.38.31", + "fastrand 2.1.0", + "rustix 0.38.34", "windows-sys 0.52.0", ] [[package]] name = "thiserror" -version = "1.0.58" +version = "1.0.61" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "03468839009160513471e86a034bb2c5c0e4baae3b43f79ffc55c4a5427b3297" +checksum = "c546c80d6be4bc6a00c0f01730c08df82eaa7a7a61f11d656526506112cc1709" dependencies = [ "thiserror-impl", ] [[package]] name = "thiserror-impl" -version = "1.0.58" +version = "1.0.61" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "c61f3ba182994efc43764a46c018c347bc492c79f024e705f46567b418f6d4f7" +checksum = "46c3384250002a6d5af4d114f2845d37b57521033f30d5c3f46c4d70e1197533" dependencies = [ "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] @@ -4823,9 +5145,9 @@ dependencies = [ [[package]] name = "time" -version = "0.3.34" +version = "0.3.36" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "c8248b6521bb14bc45b4067159b9b6ad792e2d6d754d6c41fb50e29fefe38749" +checksum = "5dfd88e563464686c916c7e46e623e520ddc6d79fa6641390f2e3fa86e83e885" dependencies = [ "deranged", "itoa", @@ -4844,14 +5166,24 @@ checksum = "ef927ca75afb808a4d64dd374f00a2adf8d0fcff8e7b184af886c3c87ec4a3f3" [[package]] name = "time-macros" -version = "0.2.17" +version = "0.2.18" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "7ba3a3ef41e6672a2f0f001392bb5dcd3ff0a9992d618ca761a11c3121547774" +checksum = "3f252a68540fde3a3877aeea552b832b40ab9a69e318efd078774a01ddee1ccf" dependencies = [ "num-conv", "time-core", ] +[[package]] +name = "tinystr" +version = "0.7.6" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "9117f5d4db391c1cf6927e7bea3db74b9a1c1add8f7eda9ffd5364f40f57b82f" +dependencies = [ + "displaydoc", + "zerovec", +] + [[package]] name = "tinyvec" version = "1.6.0" @@ -4869,9 +5201,9 @@ checksum = "1f3ccbac311fea05f86f61904b462b55fb3df8837a366dfc601a0161d0532f20" [[package]] name = "tokio" -version = "1.36.0" +version = "1.38.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "61285f6515fa018fb2d1e46eb21223fff441ee8db5d0f1435e8ab4f5cdb80931" +checksum = "ba4f4a02a7a80d6f274636f0aa95c7e383b912d41fe721a31f29e29698585a4a" dependencies = [ "backtrace", "bytes", @@ -4881,20 +5213,20 @@ dependencies = [ "parking_lot", "pin-project-lite", "signal-hook-registry", - "socket2 0.5.6", + "socket2 0.5.7", "tokio-macros", "windows-sys 0.48.0", ] [[package]] name = "tokio-macros" -version = "2.2.0" +version = "2.3.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "5b8a1e28f2deaa14e508979454cb3a223b10b938b45af148bc0986de36f1923b" +checksum = "5f5ae998a069d4b5aba8ee9dad856af7d520c3699e6159b185c2acd48155d39a" dependencies = [ "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] @@ -4917,7 +5249,7 @@ dependencies = [ "postgres-protocol", "postgres-types", "rand", - "socket2 0.5.6", + "socket2 0.5.7", "tokio", "tokio-util", "whoami", @@ -4935,23 +5267,22 @@ dependencies = [ [[package]] name = "tokio-util" -version = "0.7.10" +version = "0.7.11" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "5419f34732d9eb6ee4c3578b7989078579b7f039cbbb9ca2c4da015749371e15" +checksum = "9cf6b47b3771c49ac75ad09a6162f53ad4b8088b76ac60e8ec1455b31a189fe1" dependencies = [ "bytes", "futures-core", "futures-sink", "pin-project-lite", "tokio", - "tracing", ] [[package]] name = "toml_datetime" -version = "0.6.5" +version = "0.6.6" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "3550f4e9685620ac18a50ed434eb3aec30db8ba93b0287467bca5826ea25baf1" +checksum = "4badfd56924ae69bcc9039335b2e017639ce3f9b001c393c1b2d1ef846ce2cbf" [[package]] name = "toml_edit" @@ -4990,7 +5321,7 @@ checksum = "34704c8d6ebcbc939824180af020566b01a7c01f80641264eba0999f6c2b6be7" dependencies = [ "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", ] [[package]] @@ -5034,11 +5365,10 @@ dependencies = [ [[package]] name = "tracing-test" -version = "0.2.4" +version = "0.2.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "3a2c0ff408fe918a94c428a3f2ad04e4afd5c95bbc08fcf868eff750c15728a4" +checksum = "557b891436fe0d5e0e363427fc7f217abf9ccd510d5136549847bdcbcd011d68" dependencies = [ - "lazy_static", "tracing-core", "tracing-subscriber", "tracing-test-macro", @@ -5046,13 +5376,12 @@ dependencies = [ [[package]] name = "tracing-test-macro" -version = "0.2.4" +version = "0.2.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "258bc1c4f8e2e73a977812ab339d503e6feeb92700f6d07a6de4d321522d5c08" +checksum = "04659ddb06c87d233c566112c1c9c5b9e98256d9af50ec3bc9c8327f873a7568" dependencies = [ - "lazy_static", "quote", - "syn 1.0.109", + "syn 2.0.66", ] [[package]] @@ -5067,6 +5396,12 @@ version = "0.2.5" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "e421abadd41a4225275504ea4d6566923418b7f05506fbc9c0fe86ba7396114b" +[[package]] +name = "typeid" +version = "1.0.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "059d83cc991e7a42fc37bd50941885db0888e34209f8cfd9aab07ddec03bc9cf" + [[package]] name = "typenum" version = "1.17.0" @@ -5094,17 +5429,23 @@ dependencies = [ "tinyvec", ] +[[package]] +name = "unicode-properties" +version = "0.1.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "e4259d9d4425d9f0661581b804cb85fe66a4c631cadd8f490d1c13a35d5d9291" + [[package]] name = "unicode-width" -version = "0.1.11" +version = "0.1.13" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "e51733f11c9c4f72aa0c160008246859e340b00807569a0da0e7a1079b27ba85" +checksum = "0336d538f7abc86d282a4189614dfaa90810dfc2c6f6427eaf88e16311dd225d" [[package]] name = "unsafe-libyaml" -version = "0.2.10" +version = "0.2.11" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "ab4c90930b95a82d00dc9e9ac071b4991924390d46cbd0dfe566148667605e4b" +checksum = "673aac59facbab8a9007c7f6108d11f63b603f7cabff99fabf650fea5c32b861" [[package]] name = "untrusted" @@ -5114,9 +5455,9 @@ checksum = "8ecb6da28b8a351d773b68d5825ac39017e680750f980f3a1a85cd8dd28a47c1" [[package]] name = "url" -version = "2.5.0" +version = "2.5.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "31e6302e3bb753d46e83516cae55ae196fc0c309407cf11ab35cc51a4c2a4633" +checksum = "f7c25da092f0a868cdf09e8674cd3b7ef3a7d92a24253e663a2fb85e2496de56" dependencies = [ "form_urlencoded", "idna", @@ -5129,23 +5470,35 @@ version = "2.1.3" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "daf8dba3b7eb870caf1ddeed7bc9d2a049f3cfdfae7cb521b087cc33ae4c49da" +[[package]] +name = "utf16_iter" +version = "1.0.5" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "c8232dd3cdaed5356e0f716d285e4b40b932ac434100fe9b7e0e8e935b9e6246" + [[package]] name = "utf8-width" version = "0.1.7" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "86bd8d4e895da8537e5315b8254664e6b769c4ff3db18321b297a1e7004392e3" +[[package]] +name = "utf8_iter" +version = "1.0.4" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "b6c140620e7ffbb22c2dee59cafe6084a59b5ffc27a8859a5f0d494b5d52b6be" + [[package]] name = "utf8parse" -version = "0.2.1" +version = "0.2.2" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "711b9620af191e0cdc7468a8d14e709c3dcdb115b36f838e601583af800a370a" +checksum = "06abde3611657adf66d383f00b093d7faecc7fa57071cce2578660c9f1010821" [[package]] name = "uuid" -version = "1.7.0" +version = "1.8.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "f00cc9702ca12d3c81455259621e676d0f7251cec66a21e98fe2e9a37db93b2a" +checksum = "a183cf7feeba97b4dd1c0d46788634f6221d87fa961b305bed08c851829efcc0" dependencies = [ "getrandom", "rand", @@ -5160,9 +5513,9 @@ checksum = "830b7e5d4d90034032940e4ace0d9a9a057e7a45cd94e6c007832e39edb82f6d" [[package]] name = "value-bag" -version = "1.7.0" +version = "1.9.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "126e423afe2dd9ac52142e7e9d5ce4135d7e13776c529d27fd6bc49f19e3280b" +checksum = "5a84c137d37ab0142f0f2ddfe332651fdbf252e7b7dbb4e67b6c1f1b2e925101" [[package]] name = "varfish-server-worker" @@ -5186,10 +5539,10 @@ dependencies = [ "console", "csv", "derive-new 0.6.0", - "derive_builder 0.20.0", + "derive_builder", "enum-map", "ext-sort", - "fastrand 2.0.1", + "fastrand 2.1.0", "file_diff", "flate2", "float-cmp", @@ -5202,11 +5555,7 @@ dependencies = [ "log", "mehari", "multimap 0.10.0", - "noodles-bgzf", - "noodles-core", - "noodles-csi", - "noodles-tabix", - "noodles-vcf", + "noodles", "pbjson", "pbjson-build", "pbjson-types", @@ -5227,7 +5576,7 @@ dependencies = [ "serde_with", "shellexpand", "strum 0.26.2", - "strum_macros 0.26.2", + "strum_macros 0.26.4", "temp_testdir", "tempfile", "thiserror", @@ -5268,9 +5617,9 @@ checksum = "5c3082ca00d5a5ef149bb8b555a72ae84c9c59f7250f013ac822ac2e49b19c64" [[package]] name = "waker-fn" -version = "1.1.1" +version = "1.2.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "f3c4517f54858c779bbcbf228f4fca63d121bf85fbecb2dc578cdf4a39395690" +checksum = "317211a0dc0ceedd78fb2ca9a44aed3d7b9b26f81870d485c07122b4350673b7" [[package]] name = "want" @@ -5287,11 +5636,17 @@ version = "0.11.0+wasi-snapshot-preview1" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "9c8d87e72b64a3b4db28d11ce29237c246188f4f51057d65a7eab63b7987e423" +[[package]] +name = "wasite" +version = "0.1.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "b8dad83b4f25e74f184f64c43b150b91efe7647395b42289f38e50566d82855b" + [[package]] name = "wasm-bindgen" -version = "0.2.91" +version = "0.2.92" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "c1e124130aee3fb58c5bdd6b639a0509486b0338acaaae0c84a5124b0f588b7f" +checksum = "4be2531df63900aeb2bca0daaaddec08491ee64ceecbee5076636a3b026795a8" dependencies = [ "cfg-if", "wasm-bindgen-macro", @@ -5299,24 +5654,24 @@ dependencies = [ [[package]] name = "wasm-bindgen-backend" -version = "0.2.91" +version = "0.2.92" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "c9e7e1900c352b609c8488ad12639a311045f40a35491fb69ba8c12f758af70b" +checksum = "614d787b966d3989fa7bb98a654e369c762374fd3213d212cfc0251257e747da" dependencies = [ "bumpalo", "log", "once_cell", "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", "wasm-bindgen-shared", ] [[package]] name = "wasm-bindgen-futures" -version = "0.4.41" +version = "0.4.42" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "877b9c3f61ceea0e56331985743b13f3d25c406a7098d45180fb5f09bc19ed97" +checksum = "76bc14366121efc8dbb487ab05bcc9d346b3b5ec0eaa76e46594cabbe51762c0" dependencies = [ "cfg-if", "js-sys", @@ -5326,9 +5681,9 @@ dependencies = [ [[package]] name = "wasm-bindgen-macro" -version = "0.2.91" +version = "0.2.92" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "b30af9e2d358182b5c7449424f017eba305ed32a7010509ede96cdc4696c46ed" +checksum = "a1f8823de937b71b9460c0c34e25f3da88250760bec0ebac694b49997550d726" dependencies = [ "quote", "wasm-bindgen-macro-support", @@ -5336,60 +5691,49 @@ dependencies = [ [[package]] name = "wasm-bindgen-macro-support" -version = "0.2.91" +version = "0.2.92" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "642f325be6301eb8107a83d12a8ac6c1e1c54345a7ef1a9261962dfefda09e66" +checksum = "e94f17b526d0a461a191c78ea52bbce64071ed5c04c9ffe424dcb38f74171bb7" dependencies = [ "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", "wasm-bindgen-backend", "wasm-bindgen-shared", ] [[package]] name = "wasm-bindgen-shared" -version = "0.2.91" +version = "0.2.92" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "4f186bd2dcf04330886ce82d6f33dd75a7bfcf69ecf5763b89fcde53b6ac9838" +checksum = "af190c94f2773fdb3729c55b007a722abb5384da03bc0986df4c289bf5567e96" [[package]] name = "web-sys" -version = "0.3.68" +version = "0.3.69" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "96565907687f7aceb35bc5fc03770a8a0471d82e479f25832f54a0e3f4b28446" +checksum = "77afa9a11836342370f4817622a2f0f418b134426d91a82dfb48f532d2ec13ef" dependencies = [ "js-sys", "wasm-bindgen", ] -[[package]] -name = "which" -version = "4.4.2" -source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "87ba24419a2078cd2b0f2ede2691b6c66d8e47836da3b6db8265ebad47afbfc7" -dependencies = [ - "either", - "home", - "once_cell", - "rustix 0.38.31", -] - [[package]] name = "whoami" -version = "1.4.1" +version = "1.5.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "22fc3756b8a9133049b26c7f61ab35416c130e8c09b660f5b3958b446f52cc50" +checksum = "a44ab49fad634e88f55bf8f9bb3abd2f27d7204172a112c7c9987e01c1c94ea9" dependencies = [ - "wasm-bindgen", + "redox_syscall 0.4.1", + "wasite", "web-sys", ] [[package]] name = "wide" -version = "0.7.15" +version = "0.7.24" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "89beec544f246e679fc25490e3f8e08003bc4bf612068f325120dad4cea02c1c" +checksum = "8a040b111774ab63a19ef46bbc149398ab372b4ccdcfd719e9814dbd7dfd76c8" dependencies = [ "bytemuck", "safe_arch", @@ -5423,7 +5767,7 @@ version = "0.52.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "33ab640c8d7e35bf8ba19b884ba838ceb4fba93a4e8c65a9059d08afcfc683d9" dependencies = [ - "windows-targets 0.52.3", + "windows-targets 0.52.5", ] [[package]] @@ -5441,7 +5785,7 @@ version = "0.52.0" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "282be5f36a8ce781fad8c8ae18fa3f9beff57ec1b52cb3de0789201425d9a33d" dependencies = [ - "windows-targets 0.52.3", + "windows-targets 0.52.5", ] [[package]] @@ -5461,17 +5805,18 @@ dependencies = [ [[package]] name = "windows-targets" -version = "0.52.3" +version = "0.52.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "d380ba1dc7187569a8a9e91ed34b8ccfc33123bbacb8c0aed2d1ad7f3ef2dc5f" +checksum = "6f0713a46559409d202e70e28227288446bf7841d3211583a4b53e3f6d96e7eb" dependencies = [ - "windows_aarch64_gnullvm 0.52.3", - "windows_aarch64_msvc 0.52.3", - "windows_i686_gnu 0.52.3", - "windows_i686_msvc 0.52.3", - "windows_x86_64_gnu 0.52.3", - "windows_x86_64_gnullvm 0.52.3", - "windows_x86_64_msvc 0.52.3", + "windows_aarch64_gnullvm 0.52.5", + "windows_aarch64_msvc 0.52.5", + "windows_i686_gnu 0.52.5", + "windows_i686_gnullvm", + "windows_i686_msvc 0.52.5", + "windows_x86_64_gnu 0.52.5", + "windows_x86_64_gnullvm 0.52.5", + "windows_x86_64_msvc 0.52.5", ] [[package]] @@ -5482,9 +5827,9 @@ checksum = "2b38e32f0abccf9987a4e3079dfb67dcd799fb61361e53e2882c3cbaf0d905d8" [[package]] name = "windows_aarch64_gnullvm" -version = "0.52.3" +version = "0.52.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "68e5dcfb9413f53afd9c8f86e56a7b4d86d9a2fa26090ea2dc9e40fba56c6ec6" +checksum = "7088eed71e8b8dda258ecc8bac5fb1153c5cffaf2578fc8ff5d61e23578d3263" [[package]] name = "windows_aarch64_msvc" @@ -5494,9 +5839,9 @@ checksum = "dc35310971f3b2dbbf3f0690a219f40e2d9afcf64f9ab7cc1be722937c26b4bc" [[package]] name = "windows_aarch64_msvc" -version = "0.52.3" +version = "0.52.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "8dab469ebbc45798319e69eebf92308e541ce46760b49b18c6b3fe5e8965b30f" +checksum = "9985fd1504e250c615ca5f281c3f7a6da76213ebd5ccc9561496568a2752afb6" [[package]] name = "windows_i686_gnu" @@ -5506,9 +5851,15 @@ checksum = "a75915e7def60c94dcef72200b9a8e58e5091744960da64ec734a6c6e9b3743e" [[package]] name = "windows_i686_gnu" -version = "0.52.3" +version = "0.52.5" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "88ba073cf16d5372720ec942a8ccbf61626074c6d4dd2e745299726ce8b89670" + +[[package]] +name = "windows_i686_gnullvm" +version = "0.52.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "2a4e9b6a7cac734a8b4138a4e1044eac3404d8326b6c0f939276560687a033fb" +checksum = "87f4261229030a858f36b459e748ae97545d6f1ec60e5e0d6a3d32e0dc232ee9" [[package]] name = "windows_i686_msvc" @@ -5518,9 +5869,9 @@ checksum = "8f55c233f70c4b27f66c523580f78f1004e8b5a8b659e05a4eb49d4166cca406" [[package]] name = "windows_i686_msvc" -version = "0.52.3" +version = "0.52.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "28b0ec9c422ca95ff34a78755cfa6ad4a51371da2a5ace67500cf7ca5f232c58" +checksum = "db3c2bf3d13d5b658be73463284eaf12830ac9a26a90c717b7f771dfe97487bf" [[package]] name = "windows_x86_64_gnu" @@ -5530,9 +5881,9 @@ checksum = "53d40abd2583d23e4718fddf1ebec84dbff8381c07cae67ff7768bbf19c6718e" [[package]] name = "windows_x86_64_gnu" -version = "0.52.3" +version = "0.52.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "704131571ba93e89d7cd43482277d6632589b18ecf4468f591fbae0a8b101614" +checksum = "4e4246f76bdeff09eb48875a0fd3e2af6aada79d409d33011886d3e1581517d9" [[package]] name = "windows_x86_64_gnullvm" @@ -5542,9 +5893,9 @@ checksum = "0b7b52767868a23d5bab768e390dc5f5c55825b6d30b86c844ff2dc7414044cc" [[package]] name = "windows_x86_64_gnullvm" -version = "0.52.3" +version = "0.52.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "42079295511643151e98d61c38c0acc444e52dd42ab456f7ccfd5152e8ecf21c" +checksum = "852298e482cd67c356ddd9570386e2862b5673c85bd5f88df9ab6802b334c596" [[package]] name = "windows_x86_64_msvc" @@ -5554,9 +5905,9 @@ checksum = "ed94fce61571a4006852b7389a063ab983c02eb1bb37b47f8272ce92d06d9538" [[package]] name = "windows_x86_64_msvc" -version = "0.52.3" +version = "0.52.5" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "0770833d60a970638e989b3fa9fd2bb1aaadcf88963d1659fd7d9990196ed2d6" +checksum = "bec47e5bfd1bff0eeaf6d8b485cc1074891a197ab4225d504cb7a1ab88b02bf0" [[package]] name = "winnow" @@ -5567,6 +5918,18 @@ dependencies = [ "memchr", ] +[[package]] +name = "write16" +version = "1.0.0" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "d1890f4022759daae28ed4fe62859b1236caebfc61ede2f63ed4e695f3f6d936" + +[[package]] +name = "writeable" +version = "0.5.5" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "1e9df38ee2d2c3c5948ea468a8406ff0db0b29ae1ffde1bcf20ef305bcc95c51" + [[package]] name = "wyz" version = "0.5.1" @@ -5583,12 +5946,12 @@ source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "66fee0b777b0f5ac1c69bb06d361268faafa61cd4682ae064a171c16c433e9e4" [[package]] -name = "yaml-rust" -version = "0.4.5" +name = "xz2" +version = "0.1.7" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "56c1936c4cc7a1c9ab21a1ebb602eb942ba868cbd44a99cb7cdc5892335e1c85" +checksum = "388c44dc09d76f1536602ead6d325eb532f5c122f17782bd57fb47baeeb767e2" dependencies = [ - "linked-hash-map", + "lzma-sys", ] [[package]] @@ -5597,55 +5960,122 @@ version = "0.5.1" source = "registry+https://github.com/rust-lang/crates.io-index" checksum = "09041cd90cf85f7f8b2df60c646f853b7f535ce68f85244eb6731cf89fa498ec" +[[package]] +name = "yoke" +version = "0.7.4" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "6c5b1314b079b0930c31e3af543d8ee1757b1951ae1e1565ec704403a7240ca5" +dependencies = [ + "serde", + "stable_deref_trait", + "yoke-derive", + "zerofrom", +] + +[[package]] +name = "yoke-derive" +version = "0.7.4" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "28cc31741b18cb6f1d5ff12f5b7523e3d6eb0852bbbad19d73905511d9849b95" +dependencies = [ + "proc-macro2", + "quote", + "syn 2.0.66", + "synstructure", +] + [[package]] name = "zerocopy" -version = "0.7.32" +version = "0.7.34" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "74d4d3961e53fa4c9a25a8637fc2bfaf2595b3d3ae34875568a5cf64787716be" +checksum = "ae87e3fcd617500e5d106f0380cf7b77f3c6092aae37191433159dda23cfb087" dependencies = [ "zerocopy-derive", ] [[package]] name = "zerocopy-derive" -version = "0.7.32" +version = "0.7.34" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "15e934569e47891f7d9411f1a451d947a60e000ab3bd24fbb970f000387d1b3b" +dependencies = [ + "proc-macro2", + "quote", + "syn 2.0.66", +] + +[[package]] +name = "zerofrom" +version = "0.1.4" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "91ec111ce797d0e0784a1116d0ddcdbea84322cd79e5d5ad173daeba4f93ab55" +dependencies = [ + "zerofrom-derive", +] + +[[package]] +name = "zerofrom-derive" +version = "0.1.4" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "9ce1b18ccd8e73a9321186f97e46f9f04b778851177567b1975109d26a08d2a6" +checksum = "0ea7b4a3637ea8669cedf0f1fd5c286a17f3de97b8dd5a70a6c167a1730e63a5" dependencies = [ "proc-macro2", "quote", - "syn 2.0.51", + "syn 2.0.66", + "synstructure", ] [[package]] name = "zeroize" -version = "1.7.0" +version = "1.8.1" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "ced3678a2879b30306d323f4542626697a464a97c0a07c9aebf7ebca65cd4dde" + +[[package]] +name = "zerovec" +version = "0.10.2" +source = "registry+https://github.com/rust-lang/crates.io-index" +checksum = "bb2cc8827d6c0994478a15c53f374f46fbd41bea663d809b14744bc42e6b109c" +dependencies = [ + "yoke", + "zerofrom", + "zerovec-derive", +] + +[[package]] +name = "zerovec-derive" +version = "0.10.2" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "525b4ec142c6b68a2d10f01f7bbf6755599ca3f81ea53b8431b7dd348f5fdb2d" +checksum = "97cf56601ee5052b4417d90c8755c6683473c926039908196cf35d99f893ebe7" +dependencies = [ + "proc-macro2", + "quote", + "syn 2.0.66", +] [[package]] name = "zstd" -version = "0.13.0" +version = "0.13.1" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "bffb3309596d527cfcba7dfc6ed6052f1d39dfbd7c867aa2e865e4a449c10110" +checksum = "2d789b1514203a1120ad2429eae43a7bd32b90976a7bb8a05f7ec02fa88cc23a" dependencies = [ "zstd-safe", ] [[package]] name = "zstd-safe" -version = "7.0.0" +version = "7.1.0" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "43747c7422e2924c11144d5229878b98180ef8b06cca4ab5af37afc8a8d8ea3e" +checksum = "1cd99b45c6bc03a018c8b8a86025678c87e55526064e38f9df301989dce7ec0a" dependencies = [ "zstd-sys", ] [[package]] name = "zstd-sys" -version = "2.0.9+zstd.1.5.5" +version = "2.0.10+zstd.1.5.6" source = "registry+https://github.com/rust-lang/crates.io-index" -checksum = "9e16efa8a874a0481a574084d34cc26fdb3b99627480f785888deb6386506656" +checksum = "c253a4914af5bafc8fa8c86ee400827e83cf6ec01195ec1f1ed8441bf00d65aa" dependencies = [ "cc", "pkg-config", diff --git a/Cargo.toml b/Cargo.toml index 91e5f4d8..bf07418c 100644 --- a/Cargo.toml +++ b/Cargo.toml @@ -12,7 +12,7 @@ rust-version = "1.70.0" # See more keys and their definitions at https://doc.rust-lang.org/cargo/reference/manifest.html [dependencies] -annonars = "0.36" +annonars = "0.39" anyhow = "1.0" async-compression = { version = "0.4", features = ["tokio", "gzip"] } aws-sdk-s3 = { version = "1.33", features = ["behavior-version-latest"] } @@ -39,13 +39,8 @@ hgvs = "0.16" indexmap = { version = "2.2", features = ["serde"] } itertools = "0.12" log = "0.4" -mehari = "0.25" +mehari = "0.25.6" multimap = "0.10" -noodles-bgzf = { version = "0.26", features = ["async"] } -noodles-core = "0.14.0" -noodles-csi = { version = "0.30.0", features = ["async"] } -noodles-tabix = { version = "0.36.0", features = ["async"] } -noodles-vcf = { version = "0.49", features = ["async"] } pbjson = "0.6" pbjson-types = "0.6" procfs = "0.16" @@ -54,8 +49,8 @@ rand = "0.8" rand_core = "0.6" rayon = "1.10" regex = "1.10" -rocksdb-utils-lookup = "0.3" -rocksdb = { version = "0.21", features = ["multi-threaded-cf"] } +rocksdb-utils-lookup = "0.4" +rocksdb = { version = "0.22", features = ["multi-threaded-cf"] } serde_json = "1.0" serde = { version = "1.0", features = ["serde_derive"] } serde_with = { version = "3.3", features = ["indexmap_2"] } @@ -70,6 +65,11 @@ tracing = "0.1" tracing-subscriber = "0.3" uuid = { version = "1.4", features = ["v4", "fast-rng", "serde"] } +[dependencies.noodles] +version = "0.76.0" +features = ["bgzf", "core", "csi", "tabix", "vcf", "bcf"] + + [build-dependencies] anyhow = "1.0" prost-build = "0.12" diff --git a/protos/varfish/v1/clinvar.proto b/protos/varfish/v1/clinvar.proto index ae700885..95384f4c 100644 --- a/protos/varfish/v1/clinvar.proto +++ b/protos/varfish/v1/clinvar.proto @@ -50,6 +50,8 @@ message SvRecord { Pathogenicity pathogenicity = 5; // The RCV ID. uint32 rcv = 6; + // The VCV ID. + uint32 vcv = 7; } // ClinVar structural variant database. diff --git a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/LOCK b/protos/varfish/v1/query_seqvars.proto similarity index 100% rename from tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/LOCK rename to protos/varfish/v1/query_seqvars.proto diff --git a/src/common/mod.rs b/src/common/mod.rs index 88d5364d..d6dd46b9 100644 --- a/src/common/mod.rs +++ b/src/common/mod.rs @@ -2,12 +2,12 @@ use std::ops::Range; +use ::noodles::vcf; use biocommons_bioutils::assemblies::Assembly; use byte_unit::Byte; use clap::Parser; use clap_verbosity_flag::{InfoLevel, Verbosity}; use indexmap::IndexMap; -use noodles_vcf as vcf; pub mod noodles; pub mod s3; @@ -180,16 +180,26 @@ pub enum Genotype { WithNoCall, } +/// Strip leading '/' or '|' from genotype string. +pub fn strip_gt_leading_slash(gt_str: &str) -> &str { + if gt_str.starts_with('/') || gt_str.starts_with('|') { + >_str[1..] + } else { + gt_str + } +} + impl std::str::FromStr for Genotype { type Err = anyhow::Error; - fn from_str(s: &str) -> Result { - Ok(match s { + fn from_str(gt_str: &str) -> Result { + let gt_str = strip_gt_leading_slash(gt_str); + Ok(match gt_str { "0/0" | "0|0" | "0" => Genotype::HomRef, "0/1" | "1/0" | "0|1" | "1|0" => Genotype::Het, "1/1" | "1|1" | "1" => Genotype::HomAlt, "./." | "./0" | "./1" | "0/." | "1/." => Genotype::WithNoCall, - _ => anyhow::bail!("invalid genotype value: {:?}", s), + _ => anyhow::bail!("invalid genotype value: {:?}", gt_str), }) } } @@ -279,9 +289,7 @@ pub fn add_contigs_37( for (contig, length) in specs { builder = builder.add_contig( - contig - .parse() - .map_err(|_| anyhow::anyhow!("invalid contig: {}", contig))?, + *contig, Map::::builder() .set_length(*length) .insert( @@ -440,9 +448,7 @@ pub fn add_contigs_38( for (contig, length) in specs { builder = builder.add_contig( - contig - .parse() - .map_err(|_| anyhow::anyhow!("invalid contig: {}", contig))?, + *contig, Map::::builder() .set_length(*length) .insert( @@ -469,6 +475,31 @@ pub fn add_contigs_38( Ok(builder) } +/// Convert genotype to String value. +pub fn genotype_to_string(gt: &G) -> Result +where + G: vcf::variant::record::samples::series::value::Genotype + ?Sized, +{ + use vcf::variant::record::samples::series::value::genotype::Phasing; + + let mut tmp = String::new(); + for allele in gt.iter() { + let (position, phasing) = + allele.map_err(|e| anyhow::anyhow!("problem with Genotype {:?}: {}", gt, e))?; + // sic! VCF 4.4 has optional/implicit leading phasing indicator + match phasing { + Phasing::Phased => tmp.push('|'), + Phasing::Unphased => tmp.push('/'), + } + tmp.push_str( + &position + .map(|p| format!("{}", p)) + .unwrap_or(String::from(".")), + ) + } + Ok(tmp) +} + #[cfg(test)] pub(crate) fn read_to_bytes

(path: P) -> Result, anyhow::Error> where @@ -610,8 +641,6 @@ pub mod id_mapping { #[cfg(test)] mod test { - use noodles_vcf as vcf; - #[test] fn trace_rss_now_smoke() { super::trace_rss_now(); @@ -715,7 +744,7 @@ mod test { #[test] fn extract_pedigree_snapshot() { let path = "tests/seqvars/aggregate/ingest.vcf"; - let mut vcf_reader = vcf::reader::Builder::default() + let mut vcf_reader = noodles::vcf::io::reader::Builder::default() .build_from_path(path) .unwrap(); let header = vcf_reader.read_header().unwrap(); diff --git a/src/common/noodles.rs b/src/common/noodles.rs index 5fbf00b5..ab582132 100644 --- a/src/common/noodles.rs +++ b/src/common/noodles.rs @@ -8,15 +8,14 @@ //! or similar. use async_compression::tokio::bufread::GzipDecoder; -use mehari::common::{ - io::{std::is_gz, tokio::open_read_maybe_gz}, - noodles::AsyncVcfReader, -}; -use noodles_bgzf as bgzf; -use noodles_core::Position; -use noodles_csi::{self as csi, binning_index::index::reference_sequence::bin::Chunk}; -use noodles_tabix as tabix; -use noodles_vcf as vcf; +use mehari::common::io::{std::is_gz, tokio::open_read_maybe_gz}; +use mehari::common::noodles::{AsyncVcfReader, VariantReader}; +use noodles::bgzf; +use noodles::core::Position; +use noodles::csi::{self as csi, binning_index::index::reference_sequence::bin::Chunk}; +use noodles::tabix; +use noodles::vcf; +use noodles::vcf::variant::Record; use std::{path::Path, pin::Pin}; use tokio::io::{AsyncBufRead, BufReader}; @@ -45,7 +44,7 @@ where let mut start_position = reader.get_ref().virtual_position(); while reader - .read_record(&header, &mut record) + .read_record(&mut record) .await .map_err(|e| anyhow::anyhow!("problem reading record: {}", e))? != 0 @@ -53,12 +52,13 @@ where let end_position = reader.get_ref().virtual_position(); let chunk = Chunk::new(start_position, end_position); - let reference_sequence_name = record.chromosome().to_string(); - let start = Position::try_from(usize::from(record.position())) - .map_err(|e| std::io::Error::new(std::io::ErrorKind::InvalidData, e)) + let reference_sequence_name = record.reference_sequence_name().to_string(); + let start = record + .variant_start() + .expect("no variant_start?") .map_err(|e| anyhow::anyhow!("error converting start position: {}", e))?; let end = record - .end() + .variant_end(&header) .map_err(|e| std::io::Error::new(std::io::ErrorKind::InvalidData, e)) .and_then(|position| { Position::try_from(usize::from(position)) @@ -169,7 +169,7 @@ where } /// Helper function that opens a list of paths as VCF readers. -pub async fn open_vcf_readers(paths: &[String]) -> Result, anyhow::Error> { +pub async fn open_vcf_readers(paths: &[String]) -> Result, anyhow::Error> { let mut result = Vec::new(); for path in paths.iter() { let buf_read = if super::s3::s3_mode() && !path.starts_with('/') { @@ -177,7 +177,7 @@ pub async fn open_vcf_readers(paths: &[String]) -> Result, a } else { open_read_maybe_gz(path).await? }; - result.push(AsyncVcfReader::new(buf_read)); + result.push(VariantReader::Vcf(AsyncVcfReader::new(buf_read))); } Ok(result) } @@ -190,21 +190,21 @@ pub async fn open_vcf_readers(paths: &[String]) -> Result, a /// - If environment variable `AWS_ACCESS_KEY_ID` is set then enable S3 mode. /// - If `path_in` is absolute or S3 mode is disabled then open `path_in` as local file /// - Otherwise, attempt to open `path_in` as S3 object. -pub async fn open_vcf_reader(path_in: &str) -> Result { +pub async fn open_vcf_reader(path_in: &str) -> Result { if super::s3::s3_mode() && path_in != "-" && !path_in.starts_with('/') { tracing::debug!("Opening S3 object {} for reading (async)", path_in); - Ok(vcf::AsyncReader::new( + Ok(VariantReader::Vcf(vcf::AsyncReader::new( s3_open_read_maybe_gz(path_in) .await .map_err(|e| anyhow::anyhow!("could not build VCF reader from S3 file: {}", e))?, - )) + ))) } else { tracing::debug!("Opening local file {} for reading (async)", path_in); - Ok(vcf::AsyncReader::new( + Ok(VariantReader::Vcf(vcf::AsyncReader::new( open_read_maybe_gz(path_in).await.map_err(|e| { anyhow::anyhow!("could not build VCF reader from local file: {}", e) })?, - )) + ))) } } diff --git a/src/seqvars/aggregate/mod.rs b/src/seqvars/aggregate/mod.rs index 8caefe4e..d38e830c 100644 --- a/src/seqvars/aggregate/mod.rs +++ b/src/seqvars/aggregate/mod.rs @@ -2,13 +2,12 @@ pub mod ds; -use futures::TryStreamExt; use mehari::common::noodles::open_vcf_reader; -use noodles_vcf as vcf; +use noodles::vcf; use rayon::prelude::*; -use std::sync::Arc; +use std::{str::FromStr as _, sync::Arc}; -use crate::common::{self, Chrom, Genotype}; +use crate::common::{self, genotype_to_string, Chrom, Genotype}; /// Command line arguments for `seqvars aggregate` subcommand. #[derive(Debug, clap::Parser)] @@ -41,15 +40,16 @@ pub struct Args { /// Extract counts and carrier data from a single VCF record. fn handle_record( - input_record: &vcf::Record, + input_record: &vcf::variant::RecordBuf, input_header: &vcf::Header, pedigree: &mehari::ped::PedigreeByName, case_uuid: &uuid::Uuid, ) -> Result<(ds::Counts, ds::CarrierList), anyhow::Error> { - let chrom: Chrom = - annonars::common::cli::canonicalize(input_record.chromosome().to_string().as_str()) - .as_str() - .parse()?; + let chrom: Chrom = annonars::common::cli::canonicalize( + input_record.reference_sequence_name().to_string().as_str(), + ) + .as_str() + .parse()?; let mut res_counts = ds::Counts::default(); let mut res_carriers = ds::CarrierList::default(); @@ -57,23 +57,22 @@ fn handle_record( for (name, sample) in input_header .sample_names() .iter() - .zip(input_record.genotypes().values()) + .zip(input_record.samples().values()) { let individual = pedigree .individuals .get(name) .ok_or_else(|| anyhow::anyhow!("individual {} not found in pedigree", name))?; - let genotype = - if let Some(Some(gt)) = sample.get(&vcf::record::genotypes::keys::key::GENOTYPE) { - if let vcf::record::genotypes::sample::Value::String(gt) = gt { - gt.as_str().parse()? - } else { - anyhow::bail!("invalid genotype value: {:?}", gt); - } - } else { - continue; // skip, no-call or empty - }; + use noodles::vcf::variant::record::samples::keys::key; + let genotype = if let Some(Some( + vcf::variant::record_buf::samples::sample::value::Value::Genotype(gt), + )) = sample.get(key::GENOTYPE) + { + Genotype::from_str(&genotype_to_string(>)?)? + } else { + anyhow::bail!("invalid genotype value in {:?}", &sample) + }; let carrier_genotype = match (chrom, individual.sex, genotype) { (_, _, Genotype::WithNoCall) => continue, @@ -163,17 +162,21 @@ async fn import_vcf( let (pedigree, case_uuid) = common::extract_pedigree_and_case_uuid(&input_header)?; let mut prev = std::time::Instant::now(); - let mut records = input_reader.records(&input_header); - while let Some(input_record) = records - .try_next() - .await - .map_err(|e| anyhow::anyhow!("problem reading VCF file {}: {}", path_input, e))? - { + let mut record_buf = vcf::variant::RecordBuf::default(); + loop { + let bytes_read = input_reader + .read_record_buf(&input_header, &mut record_buf) + .await + .map_err(|e| anyhow::anyhow!("problem reading VCF file {}: {}", path_input, e))?; + if bytes_read == 0 { + break; // EOF + } + // Obtain counts from the current variant. let (this_counts_data, this_carrier_data) = - handle_record(&input_record, &input_header, &pedigree, &case_uuid)?; + handle_record(&record_buf, &input_header, &pedigree, &case_uuid)?; // Obtain annonars variant key from current allele for RocksDB lookup. - let vcf_var = annonars::common::keys::Var::from_vcf_allele(&input_record, 0); + let vcf_var = annonars::common::keys::Var::from_vcf_allele(&record_buf, 0); let key: Vec = vcf_var.clone().into(); let max_retries = 10; @@ -388,22 +391,32 @@ pub fn run(args_common: &crate::common::Args, args: &Args) -> Result<(), anyhow: mod test { use super::*; + #[tracing_test::traced_test] #[test] - fn handle_record_snapshot() { + fn handle_record_snapshot() -> Result<(), anyhow::Error> { let path = "tests/seqvars/aggregate/ingest.vcf"; - let mut vcf_reader = vcf::reader::Builder::default() + let mut vcf_reader = vcf::io::reader::Builder::default() .build_from_path(path) .unwrap(); let header = vcf_reader.read_header().unwrap(); - for record in vcf_reader.records(&header) { - let record = record.unwrap(); - let (pedigree, case_uuid) = common::extract_pedigree_and_case_uuid(&header).unwrap(); + let mut record_buf = vcf::variant::RecordBuf::default(); + loop { + let bytes_read = vcf_reader + .read_record_buf(&header, &mut record_buf) + .map_err(|e| anyhow::anyhow!("problem reading VCF file {}: {}", path, e))?; + if bytes_read == 0 { + break; // EOF + } + + let (pedigree, case_uuid) = common::extract_pedigree_and_case_uuid(&header)?; let (counts, carriers) = - super::handle_record(&record, &header, &pedigree, &case_uuid).unwrap(); + super::handle_record(&record_buf, &header, &pedigree, &case_uuid)?; insta::assert_debug_snapshot!(counts); insta::assert_debug_snapshot!(carriers); } + + Ok(()) } } diff --git a/src/seqvars/ingest/header.rs b/src/seqvars/ingest/header.rs index 90e96c42..d05ae3f7 100644 --- a/src/seqvars/ingest/header.rs +++ b/src/seqvars/ingest/header.rs @@ -1,6 +1,6 @@ use std::collections::HashSet; -use noodles_vcf as vcf; +use noodles::vcf; use crate::common::GenomeRelease; @@ -123,9 +123,7 @@ fn add_contigs_37(builder: vcf::header::Builder) -> Result::builder() .set_length(*length) .insert( @@ -184,9 +182,7 @@ fn add_contigs_38(builder: vcf::header::Builder) -> Result::builder() .set_length(*length) .insert( @@ -218,12 +214,12 @@ pub fn build_output_header( case_uuid: &uuid::Uuid, worker_version: &str, ) -> Result { + use noodles::vcf::header::record::value::map::info::Number; use vcf::header::record::value::{ map::{info::Type, Filter, Format, Info}, Map, }; - use vcf::header::Number; - use vcf::record::genotypes::keys::key; + use vcf::variant::record::samples::keys::key; let builder = vcf::Header::builder() .insert( @@ -232,7 +228,7 @@ pub fn build_output_header( )? .add_filter("PASS", Map::::new("All filters passed")) .add_info( - "gnomad_exomes_an".parse()?, + "gnomad_exomes_an", Map::::new( Number::Count(1), Type::Integer, @@ -240,7 +236,7 @@ pub fn build_output_header( ), ) .add_info( - "gnomad_exomes_hom".parse()?, + "gnomad_exomes_hom", Map::::new( Number::Count(1), Type::Integer, @@ -248,7 +244,7 @@ pub fn build_output_header( ), ) .add_info( - "gnomad_exomes_het".parse()?, + "gnomad_exomes_het", Map::::new( Number::Count(1), Type::Integer, @@ -256,7 +252,7 @@ pub fn build_output_header( ), ) .add_info( - "gnomad_exomes_hemi".parse()?, + "gnomad_exomes_hemi", Map::::new( Number::Count(1), Type::Integer, @@ -264,7 +260,7 @@ pub fn build_output_header( ), ) .add_info( - "gnomad_genomes_an".parse()?, + "gnomad_genomes_an", Map::::new( Number::Count(1), Type::Integer, @@ -272,7 +268,7 @@ pub fn build_output_header( ), ) .add_info( - "gnomad_genomes_hom".parse()?, + "gnomad_genomes_hom", Map::::new( Number::Count(1), Type::Integer, @@ -280,7 +276,7 @@ pub fn build_output_header( ), ) .add_info( - "gnomad_genomes_het".parse()?, + "gnomad_genomes_het", Map::::new( Number::Count(1), Type::Integer, @@ -288,7 +284,7 @@ pub fn build_output_header( ), ) .add_info( - "gnomad_genomes_hemi".parse()?, + "gnomad_genomes_hemi", Map::::new( Number::Count(1), Type::Integer, @@ -296,7 +292,7 @@ pub fn build_output_header( ), ) .add_info( - "helix_an".parse()?, + "helix_an", Map::::new( Number::Count(1), Type::Integer, @@ -304,7 +300,7 @@ pub fn build_output_header( ), ) .add_info( - "helix_hom".parse()?, + "helix_hom", Map::::new( Number::Count(1), Type::Integer, @@ -312,7 +308,7 @@ pub fn build_output_header( ), ) .add_info( - "helix_het".parse()?, + "helix_het", Map::::new( Number::Count(1), Type::Integer, @@ -320,7 +316,7 @@ pub fn build_output_header( ), ) .add_info( - "ANN".parse()?, + "ANN", Map::::new( Number::Unknown, Type::String, @@ -330,14 +326,14 @@ pub fn build_output_header( AA.pos / AA.length | Distance | ERRORS / WARNINGS / INFO'", ), ) - .add_format(key::READ_DEPTHS, Map::::from(&key::READ_DEPTHS)) - .add_format(key::READ_DEPTH, Map::::from(&key::READ_DEPTH)) + .add_format(key::READ_DEPTHS, Map::::from(key::READ_DEPTHS)) + .add_format(key::READ_DEPTH, Map::::from(key::READ_DEPTH)) .add_format( key::CONDITIONAL_GENOTYPE_QUALITY, - Map::::from(&key::CONDITIONAL_GENOTYPE_QUALITY), + Map::::from(key::CONDITIONAL_GENOTYPE_QUALITY), ) - .add_format(key::GENOTYPE, Map::::from(&key::GENOTYPE)) - .add_format(key::PHASE_SET, Map::::from(&key::PHASE_SET)); + .add_format(key::GENOTYPE, Map::::from(key::GENOTYPE)) + .add_format(key::PHASE_SET, Map::::from(key::PHASE_SET)); let mut builder = match genomebuild { GenomeRelease::Grch37 => add_contigs_37(builder), @@ -397,7 +393,7 @@ pub fn build_output_header( // Add SAMPLE entry. builder = builder.insert( "SAMPLE".parse()?, - noodles_vcf::header::record::Value::Map( + noodles::vcf::header::record::Value::Map( i.name.clone(), Map::::builder() .insert( @@ -422,7 +418,7 @@ pub fn build_output_header( } builder = builder.insert( "PEDIGREE".parse()?, - noodles_vcf::header::record::Value::Map(i.name.clone(), map_builder.build()?), + noodles::vcf::header::record::Value::Map(i.name.clone(), map_builder.build()?), )?; } @@ -509,7 +505,7 @@ pub fn build_output_header( #[cfg(test)] mod test { use mehari::ped::PedigreeByName; - use noodles_vcf as vcf; + use noodles::vcf; use rstest::rstest; use super::VariantCaller; @@ -523,7 +519,7 @@ mod test { fn variant_caller_guess(#[case] path: &str) -> Result<(), anyhow::Error> { mehari::common::set_snapshot_suffix!("{}", path.split('/').last().unwrap()); - let vcf_header = noodles_vcf::reader::Builder::default() + let vcf_header = noodles::vcf::io::reader::Builder::default() .build_from_path(path)? .read_header()?; @@ -544,7 +540,7 @@ mod test { let pedigree = PedigreeByName::from_path(path.replace(".vcf", ".ped")).unwrap(); - let mut input_vcf_header = noodles_vcf::reader::Builder::default() + let mut input_vcf_header = noodles::vcf::io::reader::Builder::default() .build_from_path(path)? .read_header()?; let output_vcf_header = super::build_output_header( @@ -559,14 +555,14 @@ mod test { // Work around glnexus issue with RNC. if let Some(format) = input_vcf_header.formats_mut().get_mut("RNC") { - *format.number_mut() = vcf::header::Number::Count(1); + *format.number_mut() = vcf::header::record::value::map::format::Number::Count(1); *format.type_mut() = vcf::header::record::value::map::format::Type::String; } let out_path = tmpdir.join("out.vcf"); let out_path_str = out_path.to_str().expect("invalid path"); { - noodles_vcf::writer::Writer::new(std::fs::File::create(out_path_str)?) + noodles::vcf::io::writer::Writer::new(std::fs::File::create(out_path_str)?) .write_header(&output_vcf_header)?; } @@ -587,7 +583,7 @@ mod test { let pedigree = PedigreeByName::from_path(path.replace(".vcf", ".ped")).unwrap(); - let mut input_vcf_header = noodles_vcf::reader::Builder::default() + let mut input_vcf_header = noodles::vcf::io::reader::Builder::default() .build_from_path(path)? .read_header()?; let output_vcf_header = super::build_output_header( @@ -602,14 +598,14 @@ mod test { // Work around glnexus issue with RNC. if let Some(format) = input_vcf_header.formats_mut().get_mut("RNC") { - *format.number_mut() = vcf::header::Number::Count(1); + *format.number_mut() = vcf::header::record::value::map::format::Number::Count(1); *format.type_mut() = vcf::header::record::value::map::format::Type::String; } let out_path = tmpdir.join("out.vcf"); let out_path_str = out_path.to_str().expect("invalid path"); { - noodles_vcf::writer::Writer::new(std::fs::File::create(out_path_str)?) + noodles::vcf::io::writer::Writer::new(std::fs::File::create(out_path_str)?) .write_header(&output_vcf_header)?; } diff --git a/src/seqvars/ingest/mod.rs b/src/seqvars/ingest/mod.rs index 4c139c91..2ca82e60 100644 --- a/src/seqvars/ingest/mod.rs +++ b/src/seqvars/ingest/mod.rs @@ -2,17 +2,13 @@ use std::sync::{Arc, OnceLock}; -use crate::common::noodles::open_vcf_reader; use crate::{ - common::{self, worker_version, GenomeRelease}, + common::{self, genotype_to_string, strip_gt_leading_slash, worker_version, GenomeRelease}, flush_and_shutdown, }; -use futures::TryStreamExt; -use mehari::{ - annotate::seqvars::provider::Provider as MehariProvider, - common::noodles::{open_vcf_writer, AsyncVcfReader, AsyncVcfWriter}, -}; -use noodles_vcf as vcf; +use mehari::annotate::seqvars::provider::Provider as MehariProvider; +use mehari::common::noodles::{open_vcf_reader, open_vcf_writer, AsyncVcfReader, AsyncVcfWriter}; +use noodles::vcf; use thousands::Separable; use tokio::io::AsyncWriteExt; @@ -65,38 +61,36 @@ pub fn path_component(genomebuild: GenomeRelease) -> &'static str { #[derive(Debug)] struct KnownFormatKeys { /// The keys that will be written to the output. - output_keys: Vec, + output_keys: Vec, /// The keys that are known from the input keys. - known_keys: Vec, + known_keys: Vec, /// Mapping from known to output keys where it is not identity - known_to_output_map: std::collections::HashMap< - vcf::record::genotypes::keys::Key, - vcf::record::genotypes::keys::Key, - >, + known_to_output_map: std::collections::HashMap, } impl Default for KnownFormatKeys { /// Constructor. fn default() -> Self { + use noodles::vcf::variant::record::samples::keys::key; Self { output_keys: vec![ - vcf::record::genotypes::keys::key::GENOTYPE, // GT - vcf::record::genotypes::keys::key::CONDITIONAL_GENOTYPE_QUALITY, // GQ - vcf::record::genotypes::keys::key::READ_DEPTH, // DP - vcf::record::genotypes::keys::key::READ_DEPTHS, // AD - vcf::record::genotypes::keys::key::PHASE_SET, // PS + key::GENOTYPE.to_string(), // GT + key::CONDITIONAL_GENOTYPE_QUALITY.to_string(), // GQ + key::READ_DEPTH.to_string(), // DP + key::READ_DEPTHS.to_string(), // AD + key::PHASE_SET.to_string(), // PS ], known_keys: vec![ - vcf::record::genotypes::keys::key::GENOTYPE, - vcf::record::genotypes::keys::key::CONDITIONAL_GENOTYPE_QUALITY, - vcf::record::genotypes::keys::key::READ_DEPTH, - vcf::record::genotypes::keys::key::READ_DEPTHS, - vcf::record::genotypes::keys::key::PHASE_SET, // PS - "SQ".parse().expect("invalid key: SQ"), // written as AD + key::GENOTYPE.to_string(), + key::CONDITIONAL_GENOTYPE_QUALITY.to_string(), + key::READ_DEPTH.to_string(), + key::READ_DEPTHS.to_string(), + key::PHASE_SET.to_string(), // PS + "SQ".to_string(), // written as AD ], known_to_output_map: vec![( - "SQ".parse().expect("invalid key: SQ"), - vcf::record::genotypes::keys::key::CONDITIONAL_GENOTYPE_QUALITY, + "SQ".to_string(), + key::CONDITIONAL_GENOTYPE_QUALITY.to_string(), )] .into_iter() .collect(), @@ -106,11 +100,11 @@ impl Default for KnownFormatKeys { impl KnownFormatKeys { /// Map from known to output key. - pub fn known_to_output( - &self, - key: &vcf::record::genotypes::keys::Key, - ) -> vcf::record::genotypes::keys::Key { - self.known_to_output_map.get(key).unwrap_or(key).clone() + pub fn known_to_output(&self, key: &str) -> String { + self.known_to_output_map + .get(key) + .cloned() + .unwrap_or(key.to_string()) } } @@ -122,11 +116,11 @@ static GT_RE: OnceLock = OnceLock::new(); /// Transform the ``FORMAT`` key if known. fn transform_format_value( - value: &Option<&vcf::record::genotypes::sample::Value>, - key: &vcf::record::genotypes::keys::Key, + value: &Option<&vcf::variant::record_buf::samples::sample::value::Value>, + key: &str, allele_no: usize, - sample: &vcf::record::genotypes::Sample<'_>, -) -> Option> { + sample: &vcf::variant::record_buf::samples::Sample<'_>, +) -> Option> { let gt_re = GT_RE .get_or_init(|| regex::Regex::new(r"([^\|]+)([/|])([^\|]+)").expect("could not parse RE")); @@ -141,20 +135,24 @@ fn transform_format_value( } if let Some(value) = value { - Some(Some(match key.as_ref() { + Some(Some(match key { "GT" => { - let gt = match sample - .get(&vcf::record::genotypes::keys::key::GENOTYPE) - .expect("FORMAT/GT must be present") - .cloned() - .unwrap_or_else(|| unreachable!("FORMAT/GT must be present and not None")) + let gt = if let Some(Some( + vcf::variant::record_buf::samples::sample::value::Value::Genotype(gt), + )) = + sample.get(noodles::vcf::variant::record::samples::keys::key::GENOTYPE) { - vcf::record::genotypes::sample::Value::String(gt) => gt.clone(), - _ => unreachable!("FORMAT/GT must be string"), + strip_gt_leading_slash( + &genotype_to_string(>) + .unwrap_or_else(|_| panic!("invalid genotype: {:?}", >)), + ) + .to_string() + } else { + unreachable!("FORMAT/GT must be string") }; if ["./.", ".|.", "."].contains(>.as_str()) { // no need to transform no-call - vcf::record::genotypes::sample::Value::String(gt) + vcf::variant::record_buf::samples::sample::value::Value::String(gt) } else { // transform all others let gt_captures = gt_re @@ -171,28 +169,28 @@ fn transform_format_value( transform_allele(gt_3, &curr_allele), ); - vcf::record::genotypes::sample::Value::String(new_gt) + vcf::variant::record_buf::samples::sample::value::Value::String(new_gt) } } "AD" => { let dp = match sample - .get(&vcf::record::genotypes::keys::key::READ_DEPTH) + .get(noodles::vcf::variant::record::samples::keys::key::READ_DEPTH) .expect("FORMAT/DP must be present") .cloned() .unwrap_or_else(|| unreachable!("FORMAT/DP must be present and not None")) { - vcf::record::genotypes::sample::Value::Integer(dp) => dp, + vcf::variant::record_buf::samples::sample::value::Value::Integer(dp) => dp, _ => unreachable!("FORMAT/DP must be integer"), }; // Only write out reference and current allele as AD. match *value { - vcf::record::genotypes::sample::Value::Array( - vcf::record::genotypes::sample::value::Array::Integer(ad_values), + vcf::variant::record_buf::samples::sample::value::Value::Array( + vcf::variant::record_buf::samples::sample::value::Array::Integer(ad_values), ) => { let ad = ad_values[allele_no].expect("AD should be integer value"); - vcf::record::genotypes::sample::Value::Array( - vcf::record::genotypes::sample::value::Array::Integer(vec![ + vcf::variant::record_buf::samples::sample::value::Value::Array( + vcf::variant::record_buf::samples::sample::value::Array::Integer(vec![ Some(dp - ad), Some(ad), ]), @@ -204,12 +202,12 @@ fn transform_format_value( "SQ" => { // SQ is written as AD. match *value { - vcf::record::genotypes::sample::Value::Float(sq_value) => { - vcf::record::genotypes::sample::Value::Float(*sq_value) + vcf::variant::record_buf::samples::sample::value::Value::Float(sq_value) => { + vcf::variant::record_buf::samples::sample::value::Value::Float(*sq_value) } - vcf::record::genotypes::sample::Value::Array( - vcf::record::genotypes::sample::value::Array::Float(sq_values), - ) => vcf::record::genotypes::sample::Value::Integer( + vcf::variant::record_buf::samples::sample::value::Value::Array( + vcf::variant::record_buf::samples::sample::value::Array::Float(sq_values), + ) => vcf::variant::record_buf::samples::sample::value::Value::Integer( sq_values[allele_no - 1] .expect("SQ should be float value") .round() as i32, @@ -229,15 +227,16 @@ fn transform_format_value( /// The implementation assumes that there are no duplicates in the output keys when mapped /// from input keys. fn copy_format( - input_record: &vcf::Record, - builder: vcf::record::Builder, + record_buf: &vcf::variant::RecordBuf, + builder: vcf::variant::record_buf::builder::Builder, idx_output_to_input: &[usize], allele_no: usize, known_format_keys: &KnownFormatKeys, -) -> Result { - let keys_from_input_known = input_record - .genotypes() +) -> Result { + let keys_from_input_known = record_buf + .samples() .keys() + .as_ref() .iter() .filter(|k| known_format_keys.known_keys.contains(*k)) .cloned() @@ -251,8 +250,8 @@ fn copy_format( .iter() .copied() .map(|input_idx| { - let sample = input_record - .genotypes() + let sample = record_buf + .samples() .get_index(input_idx) .expect("input_idx must be valid here"); keys_from_input_known @@ -273,12 +272,10 @@ fn copy_format( }) .collect::>(); - let genotypes = vcf::record::Genotypes::new( - vcf::record::genotypes::Keys::try_from(output_keys).expect("invalid keys"), - values, - ); + let genotypes = + vcf::variant::record_buf::samples::Samples::new(output_keys.into_iter().collect(), values); - Ok(builder.set_genotypes(genotypes)) + Ok(builder.set_samples(genotypes)) } /// Process the variants from `input_reader` to `output_writer`. @@ -369,21 +366,31 @@ async fn process_variants( let start = std::time::Instant::now(); let mut prev = std::time::Instant::now(); let mut total_written = 0usize; - let mut records = input_reader.records(input_header); + let mut input_record = vcf::variant::RecordBuf::default(); let known_format_keys = KNOWN_FORMAT_KEYS.get_or_init(Default::default); - while let Some(input_record) = records - .try_next() - .await - .map_err(|e| anyhow::anyhow!("problem reading input VCF file: {}", e))? - { - for (allele_no, alt_allele) in input_record.alternate_bases().iter().enumerate() { + loop { + let bytes_read = input_reader + .read_record_buf(input_header, &mut input_record) + .await + .map_err(|e| anyhow::anyhow!("problem reading VCF file: {}", e))?; + if bytes_read == 0 { + break; // EOF + } + + for (allele_no, alt_allele) in input_record.alternate_bases().as_ref().iter().enumerate() { let allele_no = allele_no + 1; // Construct record with first few fields describing one variant allele. - let builder = vcf::Record::builder() - .set_chromosome(input_record.chromosome().clone()) - .set_position(input_record.position()) - .set_reference_bases(input_record.reference_bases().clone()) - .set_alternate_bases(vcf::record::AlternateBases::from(vec![alt_allele.clone()])); + let builder = noodles::vcf::variant::RecordBuf::builder() + .set_reference_sequence_name(input_record.reference_sequence_name()) + .set_variant_start( + input_record + .variant_start() + .ok_or_else(|| anyhow::anyhow!("missing start position"))?, + ) + .set_reference_bases(input_record.reference_bases()) + .set_alternate_bases(vcf::variant::record_buf::AlternateBases::from(vec![ + alt_allele.clone(), + ])); // Copy over the well-known FORMAT fields and construct output record. let builder = copy_format( @@ -394,7 +401,8 @@ async fn process_variants( known_format_keys, )?; - let mut output_record = builder.build()?; + // Build the output `RecordBuf`. + let mut output_record = builder.build(); // Obtain annonars variant key from current allele for RocksDB lookup. let vcf_var = annonars::common::keys::Var::from_vcf_allele(&output_record, 0); @@ -471,8 +479,8 @@ async fn process_variants( if !ann_fields.is_empty() { output_record.info_mut().insert( "ANN".parse()?, - Some(vcf::record::info::field::Value::Array( - vcf::record::info::field::value::Array::String( + Some(vcf::variant::record_buf::info::field::Value::Array( + vcf::variant::record_buf::info::field::value::Array::String( ann_fields.iter().map(|ann| Some(ann.to_string())).collect(), ), )), @@ -481,7 +489,9 @@ async fn process_variants( } // Write out the record. - output_writer.write_record(&output_record).await?; + output_writer + .write_variant_record(output_header, &output_record) + .await?; total_written += 1; } if let Some(max_var_count) = args.max_var_count { @@ -584,7 +594,7 @@ pub async fn run(args_common: &crate::common::Args, args: &Args) -> Result<(), a // Work around glnexus issue with RNC. if let Some(format) = input_header.formats_mut().get_mut("RNC") { - *format.number_mut() = vcf::header::Number::Count(1); + *format.number_mut() = vcf::header::record::value::map::format::Number::Count(1); *format.type_mut() = vcf::header::record::value::map::format::Type::String; } diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@Case_1_vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@Case_1_vcf.snap index f275a965..bf45a940 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@Case_1_vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@Case_1_vcf.snap @@ -57,7 +57,7 @@ expression: "std::fs::read_to_string(&args.path_out)?" ##x-varfish-version= ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Case_1_father-N1-DNA1-WGS1 Case_1_index-N1-DNA1-WGS1 Case_1_mother-N1-DNA1-WGS1 -17 41249263 . G A . . gnomad_exomes_an=31398;gnomad_exomes_hom=0;gnomad_exomes_het=56;gnomad_genomes_an=251304;gnomad_genomes_hom=0;gnomad_genomes_het=369;clinvar_clinsig=benign;clinvar_rcv=RCV000112746;clinvar_vcv=VCV000055642;ANN=A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/23|c.591C>T|p.C197=|704/7088|591/5592|197/1864|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/22|c.450C>T|p.C150=|644/7028|450/5451|150/1817|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/22|c.591C>T|p.C197=|610/3682|591/2280|197/760|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/22|c.591C>T|p.C197=|698/3696|591/2100|197/700|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/24|c.591C>T|p.C197=|704/7151|591/5655|197/1885|0| GT:AD:DP:GQ 0/0:52,0:52:99 0/0:46,0:46:99 0/1:21,21:42:99 +17 41249263 . G A . . gnomad_exomes_an=31398;gnomad_exomes_hom=0;gnomad_exomes_het=56;gnomad_genomes_an=251304;gnomad_genomes_hom=0;gnomad_genomes_het=369;clinvar_vcv=VCV000055642.108;clinvar_germline_classification=Benign;ANN=A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/23|c.591C>T|p.C197=|704/7088|591/5592|197/1864|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/22|c.450C>T|p.C150=|644/7028|450/5451|150/1817|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/22|c.591C>T|p.C197=|610/3682|591/2280|197/760|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/22|c.591C>T|p.C197=|698/3696|591/2100|197/700|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/24|c.591C>T|p.C197=|704/7151|591/5655|197/1885|0| GT:AD:DP:GQ 0/0:52,0:52:99 0/0:46,0:46:99 0/1:21,21:42:99 17 41252332 . T C . . ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-435A>G|p.?|555/7088|442/5592||435|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-435A>G|p.?|495/7028|301/5451||435|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-435A>G|p.?|461/3682|442/2280||435|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-435A>G|p.?|549/3696|442/2100||435|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-435A>G|p.?|555/7151|442/5655||435| GT:AD:DP:GQ 0/0:25,0:25:75 0/1:14,14:28:99 0/1:19,21:40:99 17 41252691 . ATATAAT A . . ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-800_442-795delATTATA|p.?|555/7088|442/5592||795|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-795delATTATA|p.?|495/7028|301/5451||795|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-800_442-795delATTATA|p.?|461/3682|442/2280||795|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-795delATTATA|p.?|549/3696|442/2100||795|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-795delATTATA|p.?|555/7151|442/5655||795| GT:AD:DP:GQ 0/0:9,0:9:27 0/1:4,10:14:99 0/1:12,11:23:99 17 41252693 . ATAAT A . . ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-800_442-797delATTA|p.?|555/7088|442/5592||797|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-797delATTA|p.?|495/7028|301/5451||797|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-800_442-797delATTA|p.?|461/3682|442/2280||797|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-797delATTA|p.?|549/3696|442/2100||797|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-797delATTA|p.?|555/7151|442/5655||797| GT:AD:DP:GQ 0/0:9,0:9:27 0/0:14,0:14:42 0/1:11,11:22:99 @@ -67,56 +67,56 @@ expression: "std::fs::read_to_string(&args.path_out)?" 17 41252697 . A ATT . . ANN=ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-801_442-800insAA|p.?|555/7088|442/5592||801|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-801_301-800insAA|p.?|495/7028|301/5451||801|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-801_442-800insAA|p.?|461/3682|442/2280||801|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-801_442-800insAA|p.?|549/3696|442/2100||801|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-801_442-800insAA|p.?|555/7151|442/5655||801| GT:AD:DP:GQ 0/0:45,0:45:99 0/1:17,16:33:99 0/1:12,21:33:99 17 41254393 . G T . . ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1746C>A|p.?|554/7088|441/5592||-1746|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1746C>A|p.?|494/7028|300/5451||-1746|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1746C>A|p.?|460/3682|441/2280||-1746|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1746C>A|p.?|548/3696|441/2100||-1746|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1746C>A|p.?|554/7151|441/5655||-1746| GT:AD:DP:GQ 0/1:29,8:37:66 ./.:.:.:. 0/0:32,3:35:47 17 41273700 . C CA . . ANN=CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2333_80+2334insT|p.?|193/7088|80/5592||-2334|,CA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2333_-8+2334insT|p.?|187/7028|-8/5451||-2334|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2333_80+2334insT|p.?|99/3682|80/2280||-2334|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2333_80+2334insT|p.?|187/3696|80/2100||-2334|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2333_80+2334insT|p.?|193/7151|80/5655||-2334| GT:AD:DP:GQ 0/0:14,0:14:42 0/0:6,1:7:10 0/1:5,5:10:65 -MT 73 . A G . . . GT:AD:DP:GQ 0/0:3975,0:3975:99 1/1:0,2871:2871:99 1/1:0,3320:3320:99 +MT 73 . A G . . clinvar_vcv=VCV003066071.1;clinvar_germline_classification=Affects GT:AD:DP:GQ 0/0:3975,0:3975:99 1/1:0,2871:2871:99 1/1:0,3320:3320:99 MT 119 . T C . . . GT:AD:DP:GQ 0/0:5417,1:5418:99 1/1:0,4039:4039:99 1/1:1,4112:4113:99 MT 189 . A G . . . GT:AD:DP:GQ 0/0:3069,0:3069:99 1/1:0,1721:1721:99 1/1:0,2204:2204:99 MT 195 . T C . . . GT:AD:DP:GQ 0/0:2599,0:2599:99 1/1:0,1592:1592:99 1/1:0,1815:1815:99 MT 204 . T C . . . GT:AD:DP:GQ 0/0:2180,0:2180:99 1/1:0,1424:1424:99 1/1:0,1304:1304:99 MT 207 . G A . . . GT:AD:DP:GQ 0/0:2115,0:2115:99 1/1:0,1408:1408:99 1/1:0,1277:1277:99 -MT 263 . A G . . . GT:AD:DP:GQ 1/1:0,1288:1288:99 1/1:0,1204:1204:99 1/1:0,1031:1031:99 +MT 263 . A G . . clinvar_vcv=VCV000441147.1;clinvar_germline_classification=not provided GT:AD:DP:GQ 1/1:0,1288:1288:99 1/1:0,1204:1204:99 1/1:0,1031:1031:99 MT 302 . A ACC . . . GT:AD:DP:GQ 0/1:157,687:844:99 0/0:1005,6:1011:99 0/0:800,3:803:99 MT 310 . T TC . . . GT:AD:DP:GQ 1/1:0,1035:1035:99 1/1:0,1411:1411:99 1/1:1,1090:1091:99 MT 477 . T C . . . GT:AD:DP:GQ 1/1:4,2129:2133:99 0/0:2266,1:2267:99 0/0:1725,0:1725:99 MT 709 . G A . . . GT:AD:DP:GQ 0/0:2494,0:2494:99 1/1:0,2186:2186:99 1/1:1,1813:1814:99 -MT 750 . A G . . . GT:AD:DP:GQ 1/1:0,2757:2757:99 1/1:0,2392:2392:99 1/1:0,1621:1621:99 +MT 750 . A G . . clinvar_vcv=VCV000441148.2;clinvar_germline_classification=association not found GT:AD:DP:GQ 1/1:0,2757:2757:99 1/1:0,2392:2392:99 1/1:0,1621:1621:99 MT 879 . T C . . . GT:AD:DP:GQ 0/0:2853,0:2853:99 0/0:2784,0:2784:99 0/1:1351,547:1898:99 -MT 1243 . T C . . . GT:AD:DP:GQ 0/0:2674,1:2675:99 1/1:0,2198:2198:99 1/1:0,1655:1655:99 -MT 1438 . A G . . . GT:AD:DP:GQ 1/1:0,3815:3815:99 1/1:0,3653:3653:99 1/1:0,2900:2900:99 +MT 1243 . T C . . clinvar_vcv=VCV000042212.5;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2674,1:2675:99 1/1:0,2198:2198:99 1/1:0,1655:1655:99 +MT 1438 . A G . . clinvar_vcv=VCV000042220.4;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,3815:3815:99 1/1:0,3653:3653:99 1/1:0,2900:2900:99 MT 1824 . T C . . . GT:AD:DP:GQ 1/1:0,2668:2668:99 0/0:2409,0:2409:99 0/0:1752,0:1752:99 MT 2633 . A G . . . GT:AD:DP:GQ 0/0:2535,0:2535:99 0/1:1648,761:2409:99 0/0:2269,0:2269:99 MT 2706 . A G . . . GT:AD:DP:GQ 0/0:3200,0:3200:99 1/1:0,2847:2847:99 1/1:0,2020:2020:99 -MT 3010 . G A . . . GT:AD:DP:GQ 1/1:0,2841:2841:99 0/0:2385,0:2385:99 0/0:1685,0:1685:99 -MT 3505 . A G . . . GT:AD:DP:GQ 0/0:2580,14:2594:99 1/1:0,2363:2363:99 1/1:0,1664:1664:99 +MT 3010 . G A . . clinvar_vcv=VCV000441149.1;clinvar_germline_classification=not provided GT:AD:DP:GQ 1/1:0,2841:2841:99 0/0:2385,0:2385:99 0/0:1685,0:1685:99 +MT 3505 . A G . . clinvar_vcv=VCV000252456.4;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2580,14:2594:99 1/1:0,2363:2363:99 1/1:0,1664:1664:99 MT 3784 . T C . . . GT:AD:DP:GQ 0/1:480,2456:2936:99 0/0:2504,0:2504:99 0/0:1991,0:1991:99 -MT 4769 . A G . . . GT:AD:DP:GQ 1/1:0,2689:2689:99 1/1:0,2549:2549:99 1/1:0,2108:2108:99 -MT 5046 . G A . . . GT:AD:DP:GQ 0/0:2876,2:2878:99 1/1:0,2466:2466:99 1/1:0,1661:1661:99 -MT 5460 . G A . . . GT:AD:DP:GQ 0/0:2905,2:2907:99 1/1:0,2759:2759:99 1/1:2,1968:1970:99 -MT 7028 . C T . . . GT:AD:DP:GQ 0/0:2577,3:2580:99 1/1:2,2201:2203:99 1/1:1,1945:1946:99 +MT 4769 . A G . . clinvar_vcv=VCV000441150.2;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,2689:2689:99 1/1:0,2549:2549:99 1/1:0,2108:2108:99 +MT 5046 . G A . . clinvar_vcv=VCV000692536.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2876,2:2878:99 1/1:0,2466:2466:99 1/1:0,1661:1661:99 +MT 5460 . G A . . clinvar_vcv=VCV000692591.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2905,2:2907:99 1/1:0,2759:2759:99 1/1:2,1968:1970:99 +MT 7028 . C T . . clinvar_vcv=VCV001676315.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2577,3:2580:99 1/1:2,2201:2203:99 1/1:1,1945:1946:99 MT 7864 . C T . . . GT:AD:DP:GQ 0/0:3588,1:3589:99 1/1:0,3465:3465:99 1/1:0,2746:2746:99 MT 8170 . A G . . . GT:AD:DP:GQ 0/0:2051,1:2052:99 1/1:0,2257:2257:99 1/1:0,1774:1774:99 MT 8251 . G A . . . GT:AD:DP:GQ 0/0:2360,0:2360:99 1/1:0,2317:2317:99 1/1:1,1624:1625:99 -MT 8860 . A G . . . GT:AD:DP:GQ 1/1:0,3278:3278:99 1/1:0,3088:3088:99 1/1:0,2241:2241:99 +MT 8860 . A G . . clinvar_vcv=VCV000693004.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,3278:3278:99 1/1:0,3088:3088:99 1/1:0,2241:2241:99 MT 8994 . G A . . . GT:AD:DP:GQ 0/0:2793,0:2793:99 1/1:0,2368:2368:99 1/1:1,1917:1918:99 -MT 9007 . A G . . . GT:AD:DP:GQ 1/1:0,2959:2959:99 0/0:2442,0:2442:99 0/0:1735,0:1735:99 +MT 9007 . A G . . clinvar_vcv=VCV000693051.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,2959:2959:99 0/0:2442,0:2442:99 0/0:1735,0:1735:99 MT 9150 . A G . . . GT:AD:DP:GQ 1/1:0,3163:3163:99 0/0:3538,0:3538:99 0/0:2767,0:2767:99 MT 9380 . G A . . . GT:AD:DP:GQ 1/1:1,3320:3321:99 0/0:3222,0:3222:99 0/0:2547,0:2547:99 MT 10097 . A G . . . GT:AD:DP:GQ 0/0:2660,0:2660:99 0/1:1680,508:2188:99 0/0:1851,0:1851:99 -MT 11204 . T C . . . GT:AD:DP:GQ 0/0:3168,5:3173:99 1/1:0,2922:2922:99 1/1:0,2418:2418:99 +MT 11204 . T C . . clinvar_vcv=VCV000693352.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:3168,5:3173:99 1/1:0,2922:2922:99 1/1:0,2418:2418:99 MT 11674 . C T . . . GT:AD:DP:GQ 0/0:2890,0:2890:99 1/1:0,2666:2666:99 1/1:1,2179:2180:99 -MT 11719 . G A . . . GT:AD:DP:GQ 0/0:3339,2:3341:99 1/1:0,3052:3052:99 1/1:0,2203:2203:99 +MT 11719 . G A . . clinvar_vcv=VCV003027424.1;clinvar_germline_classification=association GT:AD:DP:GQ 0/0:3339,2:3341:99 1/1:0,3052:3052:99 1/1:0,2203:2203:99 MT 11947 . A G . . . GT:AD:DP:GQ 0/0:2579,2:2581:99 1/1:0,2273:2273:99 1/1:0,1804:1804:99 MT 12414 . T C . . . GT:AD:DP:GQ 0/0:2852,3:2855:99 1/1:1,2545:2546:99 1/1:0,1733:1733:99 MT 12648 . A G . . . GT:AD:DP:GQ 0/0:1812,1:1813:99 1/1:2,1662:1664:99 1/1:4,1777:1781:99 MT 12705 . C T . . . GT:AD:DP:GQ 0/0:2359,10:2369:99 1/1:1,2137:2138:99 1/1:1,1621:1622:99 -MT 13406 . G A . . . GT:AD:DP:GQ 0/0:2539,1:2540:99 0/0:2216,0:2216:99 0/1:1224,733:1957:99 +MT 13406 . G A . . clinvar_vcv=VCV000693552.1;clinvar_germline_classification=Uncertain significance GT:AD:DP:GQ 0/0:2539,1:2540:99 0/0:2216,0:2216:99 0/1:1224,733:1957:99 MT 13611 . A G . . . GT:AD:DP:GQ 0/0:3838,2:3840:99 1/1:0,3717:3717:99 1/1:1,2834:2835:99 -MT 13928 . G C . . . GT:AD:DP:GQ 0/0:2947,0:2947:99 1/1:0,2700:2700:99 1/1:0,1880:1880:99 -MT 14148 . A G . . . GT:AD:DP:GQ 0/0:3019,2:3021:99 1/1:0,2820:2820:99 1/1:0,1962:1962:99 -MT 14766 . C T . . . GT:AD:DP:GQ 0/0:3318,3:3321:99 1/1:2,3111:3113:99 1/1:3,2355:2358:99 -MT 15326 . A G . . . GT:AD:DP:GQ 1/1:0,3716:3716:99 1/1:0,3560:3560:99 1/1:0,2690:2690:99 -MT 15884 . G C . . . GT:AD:DP:GQ 0/0:3595,1:3596:99 1/1:0,3167:3167:99 1/1:1,2733:2734:99 +MT 13928 . G C . . clinvar_vcv=VCV000693635.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2947,0:2947:99 1/1:0,2700:2700:99 1/1:0,1880:1880:99 +MT 14148 . A G . . clinvar_vcv=VCV000235351.2;clinvar_germline_classification=Likely benign GT:AD:DP:GQ 0/0:3019,2:3021:99 1/1:0,2820:2820:99 1/1:0,1962:1962:99 +MT 14766 . C T . . clinvar_vcv=VCV000140587.4;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:3318,3:3321:99 1/1:2,3111:3113:99 1/1:3,2355:2358:99 +MT 15326 . A G . . clinvar_vcv=VCV000140592.4;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,3716:3716:99 1/1:0,3560:3560:99 1/1:0,2690:2690:99 +MT 15884 . G C . . clinvar_vcv=VCV000252455.3;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:3595,1:3596:99 1/1:0,3167:3167:99 1/1:1,2733:2734:99 MT 16184 . C T . . . GT:AD:DP:GQ 0/0:1406,1:1407:99 1/1:0,1969:1969:99 1/1:0,1478:1478:99 -MT 16223 . C T . . . GT:AD:DP:GQ 0/0:1405,1:1406:99 1/1:0,2018:2018:99 1/1:0,1472:1472:99 +MT 16223 . C T . . clinvar_vcv=VCV003027423.1;clinvar_germline_classification=association not found GT:AD:DP:GQ 0/0:1405,1:1406:99 1/1:0,2018:2018:99 1/1:0,1472:1472:99 MT 16263 . T C . . . GT:AD:DP:GQ 1/1:2,1476:1478:99 0/0:1994,0:1994:99 0/0:1475,0:1475:99 MT 16292 . C T . . . GT:AD:DP:GQ 0/0:1652,0:1652:99 1/1:1,1913:1914:99 1/1:0,1476:1476:99 MT 16519 . T C . . . GT:AD:DP:GQ 1/1:0,1759:1759:99 1/1:0,4094:4094:99 1/1:0,1744:1744:99 diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@NA12878_dragen_vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@NA12878_dragen_vcf.snap index 4659f04f..0bd7b175 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@NA12878_dragen_vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@NA12878_dragen_vcf.snap @@ -53,87 +53,87 @@ expression: "std::fs::read_to_string(&args.path_out)?" ##x-varfish-version= ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 -17 41244000 . T C . . gnomad_exomes_an=31346;gnomad_exomes_hom=1591;gnomad_exomes_het=6707;gnomad_genomes_an=250954;gnomad_genomes_hom=16402;gnomad_genomes_het=55703;clinvar_clinsig=benign;clinvar_rcv=RCV000112115;clinvar_vcv=VCV000041818;ANN=C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.3548A>G|p.K1183R|3661/7088|3548/5592|1183/1864|0|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.3407A>G|p.K1136R|3601/7028|3407/5451|1136/1817|0|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.788-951A>G|p.?|807/3682|788/2280||951|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.788-951A>G|p.?|895/3696|788/2100||951|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.3548A>G|p.K1183R|3661/7151|3548/5655|1183/1885|0| GT:AD:DP:GQ 0/1:8,18:26:43 -17 41244435 . T C . . gnomad_exomes_an=31332;gnomad_exomes_hom=1505;gnomad_exomes_het=6415;gnomad_genomes_an=251032;gnomad_genomes_hom=16145;gnomad_genomes_het=55137;clinvar_clinsig=benign;clinvar_rcv=RCV000112006;clinvar_vcv=VCV000041815;ANN=C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.3113A>G|p.E1038G|3226/7088|3113/5592|1038/1864|0|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.2972A>G|p.E991G|3166/7028|2972/5451|991/1817|0|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.788-1386A>G|p.?|807/3682|788/2280||1386|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.788-1386A>G|p.?|895/3696|788/2100||1386|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.3113A>G|p.E1038G|3226/7151|3113/5655|1038/1885|0| GT:AD:DP:GQ 0/1:12,14:26:47 -17 41244936 . G A . . gnomad_exomes_an=31324;gnomad_exomes_hom=4287;gnomad_exomes_het=6594;gnomad_genomes_an=251034;gnomad_genomes_hom=22738;gnomad_genomes_het=55898;clinvar_clinsig=benign;clinvar_rcv=RCV000111903;clinvar_vcv=VCV000041812;ANN=A|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.2612C>T|p.P871L|2725/7088|2612/5592|871/1864|0|,A|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.2471C>T|p.P824L|2665/7028|2471/5451|824/1817|0|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.787+1825C>T|p.?|806/3682|787/2280||-1825|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.787+1825C>T|p.?|894/3696|787/2100||-1825|,A|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.2612C>T|p.P871L|2725/7151|2612/5655|871/1885|0| GT:AD:DP:GQ 0/1:17,13:30:47 -17 41245237 . A G . . gnomad_exomes_an=31314;gnomad_exomes_hom=1492;gnomad_exomes_het=6416;gnomad_genomes_an=250946;gnomad_genomes_hom=16057;gnomad_genomes_het=55063;clinvar_clinsig=benign;clinvar_rcv=RCV000111822;clinvar_vcv=VCV000125554;ANN=G|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.2311T>C|p.L771=|2424/7088|2311/5592|771/1864|0|,G|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.2170T>C|p.L724=|2364/7028|2170/5451|724/1817|0|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.787+1524T>C|p.?|806/3682|787/2280||-1524|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.787+1524T>C|p.?|894/3696|787/2100||-1524|,G|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.2311T>C|p.L771=|2424/7151|2311/5655|771/1885|0| GT:AD:DP:GQ 0/1:18,11:29:46 -17 41245466 . G A . . gnomad_exomes_an=31338;gnomad_exomes_hom=1602;gnomad_exomes_het=6709;gnomad_genomes_an=251110;gnomad_genomes_hom=16420;gnomad_genomes_het=55707;clinvar_clinsig=benign;clinvar_rcv=RCV000111763;clinvar_vcv=VCV000125536;ANN=A|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.2082C>T|p.S694=|2195/7088|2082/5592|694/1864|0|,A|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.1941C>T|p.S647=|2135/7028|1941/5451|647/1817|0|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.787+1295C>T|p.?|806/3682|787/2280||-1295|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.787+1295C>T|p.?|894/3696|787/2100||-1295|,A|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.2082C>T|p.S694=|2195/7151|2082/5655|694/1885|0| GT:AD:DP:GQ 0/1:11,8:19:48 -17 41247122 . A ACCT . . clinvar_clinsig=benign;clinvar_rcv=RCV000191391;clinvar_vcv=VCV000127125;ANN=ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|9/22|c.671-246_671-245insAGG|p.?|784/7088|671/5592||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|8/21|c.530-246_530-245insAGG|p.?|724/7028|530/5451||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|8/21|c.671-246_671-245insAGG|p.?|690/3682|671/2280||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|9/21|c.671-246_671-245insAGG|p.?|778/3696|671/2100||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|9/23|c.671-246_671-245insAGG|p.?|784/7151|671/5655||246| GT:AD:DP:GQ 0/1:18,11:29:45 -17 41247604 . A C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191392;clinvar_vcv=VCV000209447;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|9/22|c.670+259T>G|p.?|783/7088|670/5592||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|8/21|c.529+259T>G|p.?|723/7028|529/5451||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|8/21|c.670+259T>G|p.?|689/3682|670/2280||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|9/21|c.670+259T>G|p.?|777/3696|670/2100||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|9/23|c.670+259T>G|p.?|783/7151|670/5655||-259| GT:AD:DP:GQ 0/1:12,11:23:47 -17 41248164 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000191394;clinvar_vcv=VCV000209449;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.594-225G>A|p.?|707/7088|594/5592||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.453-225G>A|p.?|647/7028|453/5451||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.594-225G>A|p.?|613/3682|594/2280||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.594-225G>A|p.?|701/3696|594/2100||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.594-225G>A|p.?|707/7151|594/5655||225| GT:AD:DP:GQ 0/1:14,7:21:44 +17 41244000 . T C . . gnomad_exomes_an=31346;gnomad_exomes_hom=1591;gnomad_exomes_het=6707;gnomad_genomes_an=250954;gnomad_genomes_hom=16402;gnomad_genomes_het=55703;clinvar_vcv=VCV000041818.87;clinvar_germline_classification=Benign;ANN=C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.3548A>G|p.K1183R|3661/7088|3548/5592|1183/1864|0|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.3407A>G|p.K1136R|3601/7028|3407/5451|1136/1817|0|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.788-951A>G|p.?|807/3682|788/2280||951|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.788-951A>G|p.?|895/3696|788/2100||951|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.3548A>G|p.K1183R|3661/7151|3548/5655|1183/1885|0| GT:AD:DP:GQ 0/1:8,18:26:43 +17 41244435 . T C . . gnomad_exomes_an=31332;gnomad_exomes_hom=1505;gnomad_exomes_het=6415;gnomad_genomes_an=251032;gnomad_genomes_hom=16145;gnomad_genomes_het=55137;clinvar_vcv=VCV000041815.87;clinvar_germline_classification=Benign;ANN=C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.3113A>G|p.E1038G|3226/7088|3113/5592|1038/1864|0|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.2972A>G|p.E991G|3166/7028|2972/5451|991/1817|0|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.788-1386A>G|p.?|807/3682|788/2280||1386|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.788-1386A>G|p.?|895/3696|788/2100||1386|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.3113A>G|p.E1038G|3226/7151|3113/5655|1038/1885|0| GT:AD:DP:GQ 0/1:12,14:26:47 +17 41244936 . G A . . gnomad_exomes_an=31324;gnomad_exomes_hom=4287;gnomad_exomes_het=6594;gnomad_genomes_an=251034;gnomad_genomes_hom=22738;gnomad_genomes_het=55898;clinvar_vcv=VCV000041812.88;clinvar_germline_classification=Benign;ANN=A|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.2612C>T|p.P871L|2725/7088|2612/5592|871/1864|0|,A|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.2471C>T|p.P824L|2665/7028|2471/5451|824/1817|0|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.787+1825C>T|p.?|806/3682|787/2280||-1825|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.787+1825C>T|p.?|894/3696|787/2100||-1825|,A|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.2612C>T|p.P871L|2725/7151|2612/5655|871/1885|0| GT:AD:DP:GQ 0/1:17,13:30:47 +17 41245237 . A G . . gnomad_exomes_an=31314;gnomad_exomes_hom=1492;gnomad_exomes_het=6416;gnomad_genomes_an=250946;gnomad_genomes_hom=16057;gnomad_genomes_het=55063;clinvar_vcv=VCV000125554.83;clinvar_germline_classification=Benign;ANN=G|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.2311T>C|p.L771=|2424/7088|2311/5592|771/1864|0|,G|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.2170T>C|p.L724=|2364/7028|2170/5451|724/1817|0|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.787+1524T>C|p.?|806/3682|787/2280||-1524|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.787+1524T>C|p.?|894/3696|787/2100||-1524|,G|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.2311T>C|p.L771=|2424/7151|2311/5655|771/1885|0| GT:AD:DP:GQ 0/1:18,11:29:46 +17 41245466 . G A . . gnomad_exomes_an=31338;gnomad_exomes_hom=1602;gnomad_exomes_het=6709;gnomad_genomes_an=251110;gnomad_genomes_hom=16420;gnomad_genomes_het=55707;clinvar_vcv=VCV000125536.84;clinvar_germline_classification=Benign;ANN=A|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.2082C>T|p.S694=|2195/7088|2082/5592|694/1864|0|,A|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.1941C>T|p.S647=|2135/7028|1941/5451|647/1817|0|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.787+1295C>T|p.?|806/3682|787/2280||-1295|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.787+1295C>T|p.?|894/3696|787/2100||-1295|,A|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.2082C>T|p.S694=|2195/7151|2082/5655|694/1885|0| GT:AD:DP:GQ 0/1:11,8:19:48 +17 41247122 . A ACCT . . clinvar_vcv=VCV000127125.5;clinvar_germline_classification=Benign;ANN=ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|9/22|c.671-246_671-245insAGG|p.?|784/7088|671/5592||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|8/21|c.530-246_530-245insAGG|p.?|724/7028|530/5451||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|8/21|c.671-246_671-245insAGG|p.?|690/3682|671/2280||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|9/21|c.671-246_671-245insAGG|p.?|778/3696|671/2100||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|9/23|c.671-246_671-245insAGG|p.?|784/7151|671/5655||246| GT:AD:DP:GQ 0/1:18,11:29:45 +17 41247604 . A C . . clinvar_vcv=VCV000209447.5;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|9/22|c.670+259T>G|p.?|783/7088|670/5592||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|8/21|c.529+259T>G|p.?|723/7028|529/5451||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|8/21|c.670+259T>G|p.?|689/3682|670/2280||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|9/21|c.670+259T>G|p.?|777/3696|670/2100||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|9/23|c.670+259T>G|p.?|783/7151|670/5655||-259| GT:AD:DP:GQ 0/1:12,11:23:47 +17 41248164 . C T . . clinvar_vcv=VCV000209449.4;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.594-225G>A|p.?|707/7088|594/5592||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.453-225G>A|p.?|647/7028|453/5451||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.594-225G>A|p.?|613/3682|594/2280||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.594-225G>A|p.?|701/3696|594/2100||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.594-225G>A|p.?|707/7151|594/5655||225| GT:AD:DP:GQ 0/1:14,7:21:44 17 41248393 . C CAAAAAAAAAA . . ANN=CAAAAAAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.594-455_594-454insTTTTTTTTTT|p.?|707/7088|594/5592||455|,CAAAAAAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.453-455_453-454insTTTTTTTTTT|p.?|647/7028|453/5451||455|,CAAAAAAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.594-455_594-454insTTTTTTTTTT|p.?|613/3682|594/2280||455|,CAAAAAAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.594-455_594-454insTTTTTTTTTT|p.?|701/3696|594/2100||455|,CAAAAAAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.594-455_594-454insTTTTTTTTTT|p.?|707/7151|594/5655||455| GT:AD:DP:GQ 0/1:9,7:16:48 -17 41248484 . G C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191395;clinvar_vcv=VCV000209450;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.594-545C>G|p.?|707/7088|594/5592||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.453-545C>G|p.?|647/7028|453/5451||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.594-545C>G|p.?|613/3682|594/2280||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.594-545C>G|p.?|701/3696|594/2100||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.594-545C>G|p.?|707/7151|594/5655||545| GT:AD:DP:GQ 0/1:11,9:20:48 +17 41248484 . G C . . clinvar_vcv=VCV000209450.4;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.594-545C>G|p.?|707/7088|594/5592||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.453-545C>G|p.?|647/7028|453/5451||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.594-545C>G|p.?|613/3682|594/2280||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.594-545C>G|p.?|701/3696|594/2100||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.594-545C>G|p.?|707/7151|594/5655||545| GT:AD:DP:GQ 0/1:11,9:20:48 17 41248588 . CA C . . ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.594-650delT|p.?|707/7088|594/5592||650|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.453-650delT|p.?|647/7028|453/5451||650|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.594-650delT|p.?|613/3682|594/2280||650|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.594-650delT|p.?|701/3696|594/2100||650|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.594-650delT|p.?|707/7151|594/5655||650| GT:AD:DP:GQ 0/1:9,10:19:42 -17 41249094 . A G . . gnomad_exomes_an=31332;gnomad_exomes_hom=1602;gnomad_exomes_het=6703;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191396;clinvar_vcv=VCV000209451;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.593+167T>C|p.?|706/7088|593/5592||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.452+167T>C|p.?|646/7028|452/5451||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.593+167T>C|p.?|612/3682|593/2280||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.593+167T>C|p.?|700/3696|593/2100||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.593+167T>C|p.?|706/7151|593/5655||-167| GT:AD:DP:GQ 0/1:9,7:16:48 +17 41249094 . A G . . gnomad_exomes_an=31332;gnomad_exomes_hom=1602;gnomad_exomes_het=6703;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_vcv=VCV000209451.5;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.593+167T>C|p.?|706/7088|593/5592||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.452+167T>C|p.?|646/7028|452/5451||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.593+167T>C|p.?|612/3682|593/2280||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.593+167T>C|p.?|700/3696|593/2100||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.593+167T>C|p.?|706/7151|593/5655||-167| GT:AD:DP:GQ 0/1:9,7:16:48 17 41249363 . TA T . . gnomad_exomes_an=31286;gnomad_exomes_hom=1497;gnomad_exomes_het=6409;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.548-58delT|p.?|661/7088|548/5592||58|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.407-58delT|p.?|601/7028|407/5451||58|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.548-58delT|p.?|567/3682|548/2280||58|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.548-58delT|p.?|655/3696|548/2100||58|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.548-58delT|p.?|661/7151|548/5655||58| GT:AD:DP:GQ 0/1:12,13:25:48 17 41250047 . C CT . . ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.548-742_548-741insA|p.?|661/7088|548/5592||742|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.407-742_407-741insA|p.?|601/7028|407/5451||742|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.548-742_548-741insA|p.?|567/3682|548/2280||742|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.548-742_548-741insA|p.?|655/3696|548/2100||742|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.548-742_548-741insA|p.?|661/7151|548/5655||742| GT:AD:DP:GQ 0/1:13,7:20:18 -17 41250678 . C CT . . clinvar_clinsig=benign;clinvar_rcv=RCV000191403;clinvar_vcv=VCV000209458;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+1113_547+1114insA|p.?|660/7088|547/5592||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+1113_406+1114insA|p.?|600/7028|406/5451||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+1113_547+1114insA|p.?|566/3682|547/2280||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+1113_547+1114insA|p.?|654/3696|547/2100||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+1113_547+1114insA|p.?|660/7151|547/5655||-1114| GT:AD:DP:GQ 0/1:6,16:22:42 -17 41250923 . T C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191405;clinvar_vcv=VCV000209460;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+869A>G|p.?|660/7088|547/5592||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+869A>G|p.?|600/7028|406/5451||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+869A>G|p.?|566/3682|547/2280||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+869A>G|p.?|654/3696|547/2100||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+869A>G|p.?|660/7151|547/5655||-869| GT:AD:DP:GQ 0/1:13,9:22:47 -17 41251495 . C G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191408;clinvar_vcv=VCV000209463;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+297G>C|p.?|660/7088|547/5592||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+297G>C|p.?|600/7028|406/5451||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+297G>C|p.?|566/3682|547/2280||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+297G>C|p.?|654/3696|547/2100||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+297G>C|p.?|660/7151|547/5655||-297| GT:AD:DP:GQ 0/1:11,15:26:48 -17 41251646 . T A . . gnomad_exomes_an=31294;gnomad_exomes_hom=1592;gnomad_exomes_het=6693;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000112727;clinvar_vcv=VCV000125879;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+146A>T|p.?|660/7088|547/5592||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+146A>T|p.?|600/7028|406/5451||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+146A>T|p.?|566/3682|547/2280||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+146A>T|p.?|654/3696|547/2100||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+146A>T|p.?|660/7151|547/5655||-146| GT:AD:DP:GQ 0/1:11,8:19:48 -17 41252575 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191411;clinvar_vcv=VCV000209466;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-678C>T|p.?|555/7088|442/5592||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-678C>T|p.?|495/7028|301/5451||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-678C>T|p.?|461/3682|442/2280||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-678C>T|p.?|549/3696|442/2100||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-678C>T|p.?|555/7151|442/5655||678| GT:AD:DP:GQ:PS 1|1:0,3:3:5:41252575 -17 41252591 . C CAT . . ANN=CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-695_442-694insAT|p.?|555/7088|442/5592||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-695_301-694insAT|p.?|495/7028|301/5451||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-695_442-694insAT|p.?|461/3682|442/2280||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-695_442-694insAT|p.?|549/3696|442/2100||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-695_442-694insAT|p.?|555/7151|442/5655||695| GT:AD:DP:GQ:PS 1|1:0,2:2:4:41252575 -17 41254174 . A G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191423;clinvar_vcv=VCV000209478;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1965T>C|p.?|554/7088|441/5592||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1965T>C|p.?|494/7028|300/5451||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1965T>C|p.?|460/3682|441/2280||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1965T>C|p.?|548/3696|441/2100||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1965T>C|p.?|554/7151|441/5655||-1965| GT:AD:DP:GQ 0/1:14,13:27:48 +17 41250678 . C CT . . clinvar_vcv=VCV000209458.2;clinvar_germline_classification=Benign;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+1113_547+1114insA|p.?|660/7088|547/5592||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+1113_406+1114insA|p.?|600/7028|406/5451||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+1113_547+1114insA|p.?|566/3682|547/2280||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+1113_547+1114insA|p.?|654/3696|547/2100||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+1113_547+1114insA|p.?|660/7151|547/5655||-1114| GT:AD:DP:GQ 0/1:6,16:22:42 +17 41250923 . T C . . clinvar_vcv=VCV000209460.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+869A>G|p.?|660/7088|547/5592||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+869A>G|p.?|600/7028|406/5451||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+869A>G|p.?|566/3682|547/2280||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+869A>G|p.?|654/3696|547/2100||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+869A>G|p.?|660/7151|547/5655||-869| GT:AD:DP:GQ 0/1:13,9:22:47 +17 41251495 . C G . . clinvar_vcv=VCV000209463.4;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+297G>C|p.?|660/7088|547/5592||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+297G>C|p.?|600/7028|406/5451||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+297G>C|p.?|566/3682|547/2280||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+297G>C|p.?|654/3696|547/2100||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+297G>C|p.?|660/7151|547/5655||-297| GT:AD:DP:GQ 0/1:11,15:26:48 +17 41251646 . T A . . gnomad_exomes_an=31294;gnomad_exomes_hom=1592;gnomad_exomes_het=6693;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_vcv=VCV000125879.7;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+146A>T|p.?|660/7088|547/5592||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+146A>T|p.?|600/7028|406/5451||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+146A>T|p.?|566/3682|547/2280||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+146A>T|p.?|654/3696|547/2100||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+146A>T|p.?|660/7151|547/5655||-146| GT:AD:DP:GQ 0/1:11,8:19:48 +17 41252575 . G A . . clinvar_vcv=VCV000209466.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-678C>T|p.?|555/7088|442/5592||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-678C>T|p.?|495/7028|301/5451||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-678C>T|p.?|461/3682|442/2280||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-678C>T|p.?|549/3696|442/2100||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-678C>T|p.?|555/7151|442/5655||678| GT:AD:DP:GQ:PS 1|1:0,3:3:5:41252575 +17 41252591 . C CAT . . clinvar_vcv=VCV000264796.2;clinvar_germline_classification=Benign;ANN=CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-695_442-694insAT|p.?|555/7088|442/5592||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-695_301-694insAT|p.?|495/7028|301/5451||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-695_442-694insAT|p.?|461/3682|442/2280||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-695_442-694insAT|p.?|549/3696|442/2100||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-695_442-694insAT|p.?|555/7151|442/5655||695| GT:AD:DP:GQ:PS 1|1:0,2:2:4:41252575 +17 41254174 . A G . . clinvar_vcv=VCV000209478.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1965T>C|p.?|554/7088|441/5592||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1965T>C|p.?|494/7028|300/5451||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1965T>C|p.?|460/3682|441/2280||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1965T>C|p.?|548/3696|441/2100||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1965T>C|p.?|554/7151|441/5655||-1965| GT:AD:DP:GQ 0/1:14,13:27:48 17 41254374 . C CTTTTTTTT . . ANN=CTTTTTTTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1764_441+1765insAAAAAAAA|p.?|554/7088|441/5592||-1765|,CTTTTTTTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1764_300+1765insAAAAAAAA|p.?|494/7028|300/5451||-1765|,CTTTTTTTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1764_441+1765insAAAAAAAA|p.?|460/3682|441/2280||-1765|,CTTTTTTTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1764_441+1765insAAAAAAAA|p.?|548/3696|441/2100||-1765|,CTTTTTTTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1764_441+1765insAAAAAAAA|p.?|554/7151|441/5655||-1765| GT:AD:DP:GQ 0/1:6,7:13:48 -17 41254405 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000256092;clinvar_vcv=VCV000264778;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1734G>A|p.?|554/7088|441/5592||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1734G>A|p.?|494/7028|300/5451||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1734G>A|p.?|460/3682|441/2280||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1734G>A|p.?|548/3696|441/2100||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1734G>A|p.?|554/7151|441/5655||-1734| GT:AD:DP:GQ 0/1:5,9:14:43 -17 41254486 . T G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191424;clinvar_vcv=VCV000209479;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1653A>C|p.?|554/7088|441/5592||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1653A>C|p.?|494/7028|300/5451||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1653A>C|p.?|460/3682|441/2280||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1653A>C|p.?|548/3696|441/2100||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1653A>C|p.?|554/7151|441/5655||-1653| GT:AD:DP:GQ 0/1:8,15:23:46 -17 41254965 . C CT . . clinvar_clinsig=benign;clinvar_rcv=RCV000255713;clinvar_vcv=VCV000264845;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1173_441+1174insA|p.?|554/7088|441/5592||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1173_300+1174insA|p.?|494/7028|300/5451||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1173_441+1174insA|p.?|460/3682|441/2280||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1173_441+1174insA|p.?|548/3696|441/2100||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1173_441+1174insA|p.?|554/7151|441/5655||-1174| GT:AD:DP:GQ 0/1:14,8:22:22 -17 41255102 . A G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191428;clinvar_vcv=VCV000209483;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1037T>C|p.?|554/7088|441/5592||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1037T>C|p.?|494/7028|300/5451||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1037T>C|p.?|460/3682|441/2280||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1037T>C|p.?|548/3696|441/2100||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1037T>C|p.?|554/7151|441/5655||-1037| GT:AD:DP:GQ:PS 0|1:19,12:31:46:41255102 -17 41255111 . A T . . clinvar_clinsig=benign;clinvar_rcv=RCV000191429;clinvar_vcv=VCV000209484;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1028T>A|p.?|554/7088|441/5592||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1028T>A|p.?|494/7028|300/5451||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1028T>A|p.?|460/3682|441/2280||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1028T>A|p.?|548/3696|441/2100||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1028T>A|p.?|554/7151|441/5655||-1028| GT:AD:DP:GQ:PS 0|1:19,12:31:46:41255102 +17 41254405 . C T . . clinvar_vcv=VCV000264778.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1734G>A|p.?|554/7088|441/5592||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1734G>A|p.?|494/7028|300/5451||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1734G>A|p.?|460/3682|441/2280||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1734G>A|p.?|548/3696|441/2100||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1734G>A|p.?|554/7151|441/5655||-1734| GT:AD:DP:GQ 0/1:5,9:14:43 +17 41254486 . T G . . clinvar_vcv=VCV000209479.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1653A>C|p.?|554/7088|441/5592||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1653A>C|p.?|494/7028|300/5451||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1653A>C|p.?|460/3682|441/2280||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1653A>C|p.?|548/3696|441/2100||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1653A>C|p.?|554/7151|441/5655||-1653| GT:AD:DP:GQ 0/1:8,15:23:46 +17 41254965 . C CT . . clinvar_vcv=VCV000264845.2;clinvar_germline_classification=Benign;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1173_441+1174insA|p.?|554/7088|441/5592||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1173_300+1174insA|p.?|494/7028|300/5451||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1173_441+1174insA|p.?|460/3682|441/2280||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1173_441+1174insA|p.?|548/3696|441/2100||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1173_441+1174insA|p.?|554/7151|441/5655||-1174| GT:AD:DP:GQ 0/1:14,8:22:22 +17 41255102 . A G . . clinvar_vcv=VCV000209483.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1037T>C|p.?|554/7088|441/5592||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1037T>C|p.?|494/7028|300/5451||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1037T>C|p.?|460/3682|441/2280||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1037T>C|p.?|548/3696|441/2100||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1037T>C|p.?|554/7151|441/5655||-1037| GT:AD:DP:GQ:PS 0|1:19,12:31:46:41255102 +17 41255111 . A T . . clinvar_vcv=VCV000209484.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1028T>A|p.?|554/7088|441/5592||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1028T>A|p.?|494/7028|300/5451||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1028T>A|p.?|460/3682|441/2280||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1028T>A|p.?|548/3696|441/2100||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1028T>A|p.?|554/7151|441/5655||-1028| GT:AD:DP:GQ:PS 0|1:19,12:31:46:41255102 17 41256074 . CA C . . gnomad_exomes_an=20150;gnomad_exomes_hom=2725;gnomad_exomes_het=5476;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+64delT|p.?|554/7088|441/5592||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+64delT|p.?|494/7028|300/5451||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+64delT|p.?|460/3682|441/2280||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+64delT|p.?|548/3696|441/2100||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+64delT|p.?|554/7151|441/5655||-64| GT:AD:DP:GQ:PS 0|1:11,6:17:43:41256074 17 41256089 . AAAAAAAAAGAAAAG A . . gnomad_exomes_an=28388;gnomad_exomes_hom=1079;gnomad_exomes_het=5744;gnomad_genomes_an=167932;gnomad_genomes_hom=9911;gnomad_genomes_het=23697;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+36_441+49delCTTTTCTTTTTTTT|p.?|554/7088|441/5592||-36|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+36_300+49delCTTTTCTTTTTTTT|p.?|494/7028|300/5451||-36|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+36_441+49delCTTTTCTTTTTTTT|p.?|460/3682|441/2280||-36|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+36_441+49delCTTTTCTTTTTTTT|p.?|548/3696|441/2100||-36|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+36_441+49delCTTTTCTTTTTTTT|p.?|554/7151|441/5655||-36| GT:AD:DP:GQ:PS 0|1:13,6:19:43:41256074 -17 41257134 . T C . . gnomad_exomes_an=31346;gnomad_exomes_hom=4418;gnomad_exomes_het=6505;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000112024;clinvar_vcv=VCV000125614;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|4/22|c.213-161A>G|p.?|326/7088|213/5592||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.72-161A>G|p.?|266/7028|72/5451||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|3/21|c.213-161A>G|p.?|232/3682|213/2280||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.213-161A>G|p.?|320/3696|213/2100||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.213-161A>G|p.?|326/7151|213/5655||161| GT:AD:DP:GQ 0/1:14,15:29:48 -17 41257458 . A C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191434;clinvar_vcv=VCV000209489;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|4/22|c.213-485T>G|p.?|326/7088|213/5592||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.72-485T>G|p.?|266/7028|72/5451||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|3/21|c.213-485T>G|p.?|232/3682|213/2280||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.213-485T>G|p.?|320/3696|213/2100||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.213-485T>G|p.?|326/7151|213/5655||485| GT:AD:DP:GQ 0/1:11,15:26:48 -17 41258043 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000191436;clinvar_vcv=VCV000209491;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|4/22|c.212+430G>A|p.?|325/7088|212/5592||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.71+430G>A|p.?|265/7028|71/5451||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|3/21|c.212+430G>A|p.?|231/3682|212/2280||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.212+430G>A|p.?|319/3696|212/2100||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.212+430G>A|p.?|325/7151|212/5655||-430| GT:AD:DP:GQ 0/1:14,13:27:48 +17 41257134 . T C . . gnomad_exomes_an=31346;gnomad_exomes_hom=4418;gnomad_exomes_het=6505;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_vcv=VCV000125614.7;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|4/22|c.213-161A>G|p.?|326/7088|213/5592||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.72-161A>G|p.?|266/7028|72/5451||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|3/21|c.213-161A>G|p.?|232/3682|213/2280||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.213-161A>G|p.?|320/3696|213/2100||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.213-161A>G|p.?|326/7151|213/5655||161| GT:AD:DP:GQ 0/1:14,15:29:48 +17 41257458 . A C . . clinvar_vcv=VCV000209489.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|4/22|c.213-485T>G|p.?|326/7088|213/5592||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.72-485T>G|p.?|266/7028|72/5451||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|3/21|c.213-485T>G|p.?|232/3682|213/2280||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.213-485T>G|p.?|320/3696|213/2100||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.213-485T>G|p.?|326/7151|213/5655||485| GT:AD:DP:GQ 0/1:11,15:26:48 +17 41258043 . C T . . clinvar_vcv=VCV000209491.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|4/22|c.212+430G>A|p.?|325/7088|212/5592||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.71+430G>A|p.?|265/7028|71/5451||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|3/21|c.212+430G>A|p.?|231/3682|212/2280||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.212+430G>A|p.?|319/3696|212/2100||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.212+430G>A|p.?|325/7151|212/5655||-430| GT:AD:DP:GQ 0/1:14,13:27:48 17 41258135 . T TA . . ANN=TA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|4/22|c.212+337_212+338insT|p.?|325/7088|212/5592||-338|,TA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.71+337_71+338insT|p.?|265/7028|71/5451||-338|,TA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|3/21|c.212+337_212+338insT|p.?|231/3682|212/2280||-338|,TA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.212+337_212+338insT|p.?|319/3696|212/2100||-338|,TA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.212+337_212+338insT|p.?|325/7151|212/5655||-338| GT:AD:DP:GQ 1/1:3,11:14:4 -17 41259049 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000191440;clinvar_vcv=VCV000209494;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-499G>A|p.?|248/7088|135/5592||499|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-499G>A|p.?|188/7028|-7/5451||499|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-499G>A|p.?|154/3682|135/2280||499|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-499G>A|p.?|242/3696|135/2100||499|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-499G>A|p.?|248/7151|135/5655||499| GT:AD:DP:GQ 0/1:8,8:16:48 +17 41259049 . C T . . clinvar_vcv=VCV000209494.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-499G>A|p.?|248/7088|135/5592||499|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-499G>A|p.?|188/7028|-7/5451||499|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-499G>A|p.?|154/3682|135/2280||499|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-499G>A|p.?|242/3696|135/2100||499|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-499G>A|p.?|248/7151|135/5655||499| GT:AD:DP:GQ 0/1:8,8:16:48 17 41259079 . A ATT . . ANN=ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-530_135-529insAA|p.?|248/7088|135/5592||530|,ATT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-530_-7-529insAA|p.?|188/7028|-7/5451||530|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-530_135-529insAA|p.?|154/3682|135/2280||530|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-530_135-529insAA|p.?|242/3696|135/2100||530|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-530_135-529insAA|p.?|248/7151|135/5655||530| GT:AD:DP:GQ 0/1:10,3:13:7 -17 41259113 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000255936;clinvar_vcv=VCV000264811;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-563C>T|p.?|248/7088|135/5592||563|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-563C>T|p.?|188/7028|-7/5451||563|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-563C>T|p.?|154/3682|135/2280||563|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-563C>T|p.?|242/3696|135/2100||563|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-563C>T|p.?|248/7151|135/5655||563| GT:AD:DP:GQ 0/1:11,8:19:48 -17 41260352 . C CA . . clinvar_clinsig=benign;clinvar_rcv=RCV000255985;clinvar_vcv=VCV000264791;ANN=CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-1803_135-1802insT|p.?|248/7088|135/5592||1803|,CA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-1803_-7-1802insT|p.?|188/7028|-7/5451||1803|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-1803_135-1802insT|p.?|154/3682|135/2280||1803|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-1803_135-1802insT|p.?|242/3696|135/2100||1803|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-1803_135-1802insT|p.?|248/7151|135/5655||1803| GT:AD:DP:GQ 0/1:11,8:19:43 +17 41259113 . G A . . clinvar_vcv=VCV000264811.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-563C>T|p.?|248/7088|135/5592||563|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-563C>T|p.?|188/7028|-7/5451||563|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-563C>T|p.?|154/3682|135/2280||563|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-563C>T|p.?|242/3696|135/2100||563|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-563C>T|p.?|248/7151|135/5655||563| GT:AD:DP:GQ 0/1:11,8:19:48 +17 41260352 . C CA . . clinvar_vcv=VCV000264791.2;clinvar_germline_classification=Benign;ANN=CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-1803_135-1802insT|p.?|248/7088|135/5592||1803|,CA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-1803_-7-1802insT|p.?|188/7028|-7/5451||1803|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-1803_135-1802insT|p.?|154/3682|135/2280||1803|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-1803_135-1802insT|p.?|242/3696|135/2100||1803|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-1803_135-1802insT|p.?|248/7151|135/5655||1803| GT:AD:DP:GQ 0/1:11,8:19:43 17 41260723 . C CAAAAA . . ANN=CAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-2174_135-2173insTTTTT|p.?|248/7088|135/5592||2174|,CAAAAA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-2174_-7-2173insTTTTT|p.?|188/7028|-7/5451||2174|,CAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-2174_135-2173insTTTTT|p.?|154/3682|135/2280||2174|,CAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-2174_135-2173insTTTTT|p.?|242/3696|135/2100||2174|,CAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-2174_135-2173insTTTTT|p.?|248/7151|135/5655||2174| GT:AD:DP:GQ 0/1:1,1:2:20 -17 41260808 . A G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191445;clinvar_vcv=VCV000209499;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-2258T>C|p.?|248/7088|135/5592||2258|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-2258T>C|p.?|188/7028|-7/5451||2258|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-2258T>C|p.?|154/3682|135/2280||2258|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-2258T>C|p.?|242/3696|135/2100||2258|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-2258T>C|p.?|248/7151|135/5655||2258| GT:AD:DP:GQ 0/1:12,3:15:32 -17 41261058 . T TCTATCTATCTACCTAC . . clinvar_clinsig=benign;clinvar_rcv=RCV000255302;clinvar_vcv=VCV000264813;ANN=TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|248/7088|135/5592||2509|,TCTATCTATCTACCTAC|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-2509_-7-2508insGTAGGTAGATAGATAG|p.?|188/7028|-7/5451||2509|,TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|154/3682|135/2280||2509|,TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|242/3696|135/2100||2509|,TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|248/7151|135/5655||2509| GT:AD:DP:GQ 0/1:9,11:20:48 -17 41261233 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000191449;clinvar_vcv=VCV000209503;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-2683G>A|p.?|248/7088|135/5592||2683|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-2683G>A|p.?|188/7028|-7/5451||2683|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-2683G>A|p.?|154/3682|135/2280||2683|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-2683G>A|p.?|242/3696|135/2100||2683|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-2683G>A|p.?|248/7151|135/5655||2683| GT:AD:DP:GQ 0/1:12,15:27:48 -17 41263044 . A G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191458;clinvar_vcv=VCV000209512;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-4494T>C|p.?|248/7088|135/5592||4494|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-4494T>C|p.?|188/7028|-7/5451||4494|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-4494T>C|p.?|154/3682|135/2280||4494|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-4494T>C|p.?|242/3696|135/2100||4494|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-4494T>C|p.?|248/7151|135/5655||4494| GT:AD:DP:GQ 0/1:7,7:14:48 +17 41260808 . A G . . clinvar_vcv=VCV000209499.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-2258T>C|p.?|248/7088|135/5592||2258|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-2258T>C|p.?|188/7028|-7/5451||2258|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-2258T>C|p.?|154/3682|135/2280||2258|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-2258T>C|p.?|242/3696|135/2100||2258|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-2258T>C|p.?|248/7151|135/5655||2258| GT:AD:DP:GQ 0/1:12,3:15:32 +17 41261058 . T TCTATCTATCTACCTAC . . clinvar_vcv=VCV000264813.2;clinvar_germline_classification=Benign;ANN=TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|248/7088|135/5592||2509|,TCTATCTATCTACCTAC|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-2509_-7-2508insGTAGGTAGATAGATAG|p.?|188/7028|-7/5451||2509|,TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|154/3682|135/2280||2509|,TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|242/3696|135/2100||2509|,TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|248/7151|135/5655||2509| GT:AD:DP:GQ 0/1:9,11:20:48 +17 41261233 . C T . . clinvar_vcv=VCV000209503.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-2683G>A|p.?|248/7088|135/5592||2683|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-2683G>A|p.?|188/7028|-7/5451||2683|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-2683G>A|p.?|154/3682|135/2280||2683|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-2683G>A|p.?|242/3696|135/2100||2683|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-2683G>A|p.?|248/7151|135/5655||2683| GT:AD:DP:GQ 0/1:12,15:27:48 +17 41263044 . A G . . clinvar_vcv=VCV000209512.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-4494T>C|p.?|248/7088|135/5592||4494|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-4494T>C|p.?|188/7028|-7/5451||4494|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-4494T>C|p.?|154/3682|135/2280||4494|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-4494T>C|p.?|242/3696|135/2100||4494|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-4494T>C|p.?|248/7151|135/5655||4494| GT:AD:DP:GQ 0/1:7,7:14:48 17 41263117 . C CA . . ANN=CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-4568_135-4567insT|p.?|248/7088|135/5592||4568|,CA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-4568_-7-4567insT|p.?|188/7028|-7/5451||4568|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-4568_135-4567insT|p.?|154/3682|135/2280||4568|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-4568_135-4567insT|p.?|242/3696|135/2100||4568|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-4568_135-4567insT|p.?|248/7151|135/5655||4568| GT:AD:DP:GQ 0/1:13,10:23:34 -17 41263566 . T C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191462;clinvar_vcv=VCV000209516;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+4177A>G|p.?|247/7088|134/5592||-4177|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5016A>G|p.?|188/7028|-7/5451||5016|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+4177A>G|p.?|153/3682|134/2280||-4177|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+4177A>G|p.?|241/3696|134/2100||-4177|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+4177A>G|p.?|247/7151|134/5655||-4177| GT:AD:DP:GQ 0/1:11,8:19:48 -17 41264146 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191465;clinvar_vcv=VCV000209519;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+3597C>T|p.?|247/7088|134/5592||-3597|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5596C>T|p.?|188/7028|-7/5451||5596|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+3597C>T|p.?|153/3682|134/2280||-3597|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3597C>T|p.?|241/3696|134/2100||-3597|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3597C>T|p.?|247/7151|134/5655||-3597| GT:AD:DP:GQ 0/1:13,7:20:45 -17 41264364 . A G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191467;clinvar_vcv=VCV000209521;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+3379T>C|p.?|247/7088|134/5592||-3379|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5814T>C|p.?|188/7028|-7/5451||5814|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+3379T>C|p.?|153/3682|134/2280||-3379|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3379T>C|p.?|241/3696|134/2100||-3379|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3379T>C|p.?|247/7151|134/5655||-3379| GT:AD:DP:GQ 0/1:8,16:24:45 -17 41264739 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000255084;clinvar_vcv=VCV000264785;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+3004G>A|p.?|247/7088|134/5592||-3004|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6189G>A|p.?|188/7028|-7/5451||6189|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+3004G>A|p.?|153/3682|134/2280||-3004|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3004G>A|p.?|241/3696|134/2100||-3004|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3004G>A|p.?|247/7151|134/5655||-3004| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 +17 41263566 . T C . . clinvar_vcv=VCV000209516.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+4177A>G|p.?|247/7088|134/5592||-4177|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5016A>G|p.?|188/7028|-7/5451||5016|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+4177A>G|p.?|153/3682|134/2280||-4177|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+4177A>G|p.?|241/3696|134/2100||-4177|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+4177A>G|p.?|247/7151|134/5655||-4177| GT:AD:DP:GQ 0/1:11,8:19:48 +17 41264146 . G A . . clinvar_vcv=VCV000209519.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+3597C>T|p.?|247/7088|134/5592||-3597|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5596C>T|p.?|188/7028|-7/5451||5596|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+3597C>T|p.?|153/3682|134/2280||-3597|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3597C>T|p.?|241/3696|134/2100||-3597|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3597C>T|p.?|247/7151|134/5655||-3597| GT:AD:DP:GQ 0/1:13,7:20:45 +17 41264364 . A G . . clinvar_vcv=VCV000209521.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+3379T>C|p.?|247/7088|134/5592||-3379|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5814T>C|p.?|188/7028|-7/5451||5814|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+3379T>C|p.?|153/3682|134/2280||-3379|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3379T>C|p.?|241/3696|134/2100||-3379|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3379T>C|p.?|247/7151|134/5655||-3379| GT:AD:DP:GQ 0/1:8,16:24:45 +17 41264739 . C T . . clinvar_vcv=VCV000264785.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+3004G>A|p.?|247/7088|134/5592||-3004|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6189G>A|p.?|188/7028|-7/5451||6189|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+3004G>A|p.?|153/3682|134/2280||-3004|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3004G>A|p.?|241/3696|134/2100||-3004|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3004G>A|p.?|247/7151|134/5655||-3004| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 17 41264740 . TGA T . . ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+3001_134+3002delTC|p.?|247/7088|134/5592||-3001|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6192_-7-6191delTC|p.?|188/7028|-7/5451||6191|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+3001_134+3002delTC|p.?|153/3682|134/2280||-3001|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3001_134+3002delTC|p.?|241/3696|134/2100||-3001|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3001_134+3002delTC|p.?|247/7151|134/5655||-3001| GT:AD:DP:GQ 0/1:14,16:30:48 17 41264743 . CT C . . ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2999delA|p.?|247/7088|134/5592||-2999|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6194delA|p.?|188/7028|-7/5451||6194|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2999delA|p.?|153/3682|134/2280||-2999|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2999delA|p.?|241/3696|134/2100||-2999|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2999delA|p.?|247/7151|134/5655||-2999| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 -17 41264749 . C G . . clinvar_clinsig=benign;clinvar_rcv=RCV000256095;clinvar_vcv=VCV000264823;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2994G>C|p.?|247/7088|134/5592||-2994|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6199G>C|p.?|188/7028|-7/5451||6199|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2994G>C|p.?|153/3682|134/2280||-2994|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2994G>C|p.?|241/3696|134/2100||-2994|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2994G>C|p.?|247/7151|134/5655||-2994| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 -17 41264750 . A T . . clinvar_clinsig=benign;clinvar_rcv=RCV000255162;clinvar_vcv=VCV000264824;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2993T>A|p.?|247/7088|134/5592||-2993|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6200T>A|p.?|188/7028|-7/5451||6200|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2993T>A|p.?|153/3682|134/2280||-2993|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2993T>A|p.?|241/3696|134/2100||-2993|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2993T>A|p.?|247/7151|134/5655||-2993| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 +17 41264749 . C G . . clinvar_vcv=VCV000264823.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2994G>C|p.?|247/7088|134/5592||-2994|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6199G>C|p.?|188/7028|-7/5451||6199|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2994G>C|p.?|153/3682|134/2280||-2994|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2994G>C|p.?|241/3696|134/2100||-2994|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2994G>C|p.?|247/7151|134/5655||-2994| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 +17 41264750 . A T . . clinvar_vcv=VCV000264824.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2993T>A|p.?|247/7088|134/5592||-2993|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6200T>A|p.?|188/7028|-7/5451||6200|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2993T>A|p.?|153/3682|134/2280||-2993|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2993T>A|p.?|241/3696|134/2100||-2993|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2993T>A|p.?|247/7151|134/5655||-2993| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 17 41264751 . A AGGG . . ANN=AGGG|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2991_134+2992insCCC|p.?|247/7088|134/5592||-2992|,AGGG|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6202_-7-6201insCCC|p.?|188/7028|-7/5451||6202|,AGGG|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2991_134+2992insCCC|p.?|153/3682|134/2280||-2992|,AGGG|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2991_134+2992insCCC|p.?|241/3696|134/2100||-2992|,AGGG|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2991_134+2992insCCC|p.?|247/7151|134/5655||-2992| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 -17 41264753 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000255582;clinvar_vcv=VCV000264819;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2990G>A|p.?|247/7088|134/5592||-2990|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6203G>A|p.?|188/7028|-7/5451||6203|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2990G>A|p.?|153/3682|134/2280||-2990|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2990G>A|p.?|241/3696|134/2100||-2990|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2990G>A|p.?|247/7151|134/5655||-2990| GT:AD:DP:GQ:PS 0|1:14,13:27:48:41264739 +17 41264753 . C T . . clinvar_vcv=VCV000264819.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2990G>A|p.?|247/7088|134/5592||-2990|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6203G>A|p.?|188/7028|-7/5451||6203|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2990G>A|p.?|153/3682|134/2280||-2990|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2990G>A|p.?|241/3696|134/2100||-2990|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2990G>A|p.?|247/7151|134/5655||-2990| GT:AD:DP:GQ:PS 0|1:14,13:27:48:41264739 17 41264755 . TGAAAC T . . ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2983_134+2987delGTTTC|p.?|247/7088|134/5592||-2983|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6210_-7-6206delGTTTC|p.?|188/7028|-7/5451||6206|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2983_134+2987delGTTTC|p.?|153/3682|134/2280||-2983|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2983_134+2987delGTTTC|p.?|241/3696|134/2100||-2983|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2983_134+2987delGTTTC|p.?|247/7151|134/5655||-2983| GT:AD:DP:GQ:PS 0|1:14,13:27:48:41264739 -17 41265776 . A G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191470;clinvar_vcv=VCV000209524;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+1967T>C|p.?|247/7088|134/5592||-1967|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-7226T>C|p.?|188/7028|-7/5451||7226|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+1967T>C|p.?|153/3682|134/2280||-1967|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+1967T>C|p.?|241/3696|134/2100||-1967|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+1967T>C|p.?|247/7151|134/5655||-1967| GT:AD:DP:GQ 0/1:23,14:37:44 -17 41266407 . C CT . . clinvar_clinsig=benign;clinvar_rcv=RCV000255595;clinvar_vcv=VCV000264777;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+1335_134+1336insA|p.?|247/7088|134/5592||-1336|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-7858_-7-7857insA|p.?|188/7028|-7/5451||7858|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+1335_134+1336insA|p.?|153/3682|134/2280||-1336|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+1335_134+1336insA|p.?|241/3696|134/2100||-1336|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+1335_134+1336insA|p.?|247/7151|134/5655||-1336| GT:AD:DP:GQ 0/1:10,8:18:33 -17 41267050 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191477;clinvar_vcv=VCV000209531;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+693C>T|p.?|247/7088|134/5592||-693|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-8500C>T|p.?|188/7028|-7/5451||8500|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+693C>T|p.?|153/3682|134/2280||-693|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+693C>T|p.?|241/3696|134/2100||-693|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+693C>T|p.?|247/7151|134/5655||-693| GT:AD:DP:GQ 0/1:7,16:23:44 +17 41265776 . A G . . clinvar_vcv=VCV000209524.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+1967T>C|p.?|247/7088|134/5592||-1967|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-7226T>C|p.?|188/7028|-7/5451||7226|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+1967T>C|p.?|153/3682|134/2280||-1967|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+1967T>C|p.?|241/3696|134/2100||-1967|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+1967T>C|p.?|247/7151|134/5655||-1967| GT:AD:DP:GQ 0/1:23,14:37:44 +17 41266407 . C CT . . clinvar_vcv=VCV000264777.2;clinvar_germline_classification=Benign;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+1335_134+1336insA|p.?|247/7088|134/5592||-1336|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-7858_-7-7857insA|p.?|188/7028|-7/5451||7858|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+1335_134+1336insA|p.?|153/3682|134/2280||-1336|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+1335_134+1336insA|p.?|241/3696|134/2100||-1336|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+1335_134+1336insA|p.?|247/7151|134/5655||-1336| GT:AD:DP:GQ 0/1:10,8:18:33 +17 41267050 . G A . . clinvar_vcv=VCV000209531.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+693C>T|p.?|247/7088|134/5592||-693|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-8500C>T|p.?|188/7028|-7/5451||8500|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+693C>T|p.?|153/3682|134/2280||-693|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+693C>T|p.?|241/3696|134/2100||-693|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+693C>T|p.?|247/7151|134/5655||-693| GT:AD:DP:GQ 0/1:7,16:23:44 17 41267518 . CA C . . ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+224delT|p.?|247/7088|134/5592||-224|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+8515delT|p.?|187/7028|-8/5451||-8515|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+224delT|p.?|153/3682|134/2280||-224|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+224delT|p.?|241/3696|134/2100||-224|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+224delT|p.?|247/7151|134/5655||-224| GT:AD:DP:GQ 0/1:11,8:19:35 -17 41268206 . A C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191483;clinvar_vcv=VCV000209537;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-410T>G|p.?|194/7088|81/5592||410|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+7828T>G|p.?|187/7028|-8/5451||-7828|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-410T>G|p.?|100/3682|81/2280||410|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-410T>G|p.?|188/3696|81/2100||410|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-410T>G|p.?|194/7151|81/5655||410| GT:AD:DP:GQ:PS 0|1:13,9:22:46:41268206 -17 41268208 . C CT . . clinvar_clinsig=benign;clinvar_rcv=RCV000255730;clinvar_vcv=VCV000264808;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-413_81-412insA|p.?|194/7088|81/5592||413|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+7825_-8+7826insA|p.?|187/7028|-8/5451||-7826|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-413_81-412insA|p.?|100/3682|81/2280||413|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-413_81-412insA|p.?|188/3696|81/2100||413|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-413_81-412insA|p.?|194/7151|81/5655||413| GT:AD:DP:GQ:PS 0|1:13,9:22:46:41268206 -17 41270229 . T G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191491;clinvar_vcv=VCV000209545;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2433A>C|p.?|194/7088|81/5592||2433|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5805A>C|p.?|187/7028|-8/5451||-5805|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2433A>C|p.?|100/3682|81/2280||2433|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2433A>C|p.?|188/3696|81/2100||2433|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2433A>C|p.?|194/7151|81/5655||2433| GT:AD:DP:GQ 0/1:7,17:24:40 -17 41270277 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000191493;clinvar_vcv=VCV000209547;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2481G>A|p.?|194/7088|81/5592||2481|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5757G>A|p.?|187/7028|-8/5451||-5757|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2481G>A|p.?|100/3682|81/2280||2481|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2481G>A|p.?|188/3696|81/2100||2481|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2481G>A|p.?|194/7151|81/5655||2481| GT:AD:DP:GQ 0/1:9,13:22:48 -17 41270463 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191497;clinvar_vcv=VCV000209551;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2667C>T|p.?|194/7088|81/5592||2667|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5571C>T|p.?|187/7028|-8/5451||-5571|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2667C>T|p.?|100/3682|81/2280||2667|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2667C>T|p.?|188/3696|81/2100||2667|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2667C>T|p.?|194/7151|81/5655||2667| GT:AD:DP:GQ 0/1:15,13:28:48 -17 41270666 . C A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191498;clinvar_vcv=VCV000209552;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2870G>T|p.?|194/7088|81/5592||2870|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5368G>T|p.?|187/7028|-8/5451||-5368|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2870G>T|p.?|100/3682|81/2280||2870|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2870G>T|p.?|188/3696|81/2100||2870|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2870G>T|p.?|194/7151|81/5655||2870| GT:AD:DP:GQ 0/1:11,4:15:43 -17 41270778 . C CT . . clinvar_clinsig=benign;clinvar_rcv=RCV000256051;clinvar_vcv=VCV000264797;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2983_81-2982insA|p.?|194/7088|81/5592||2983|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5255_-8+5256insA|p.?|187/7028|-8/5451||-5256|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2983_81-2982insA|p.?|100/3682|81/2280||2983|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2983_81-2982insA|p.?|188/3696|81/2100||2983|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2983_81-2982insA|p.?|194/7151|81/5655||2983| GT:AD:DP:GQ 0/1:11,5:16:14 +17 41268206 . A C . . clinvar_vcv=VCV000209537.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-410T>G|p.?|194/7088|81/5592||410|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+7828T>G|p.?|187/7028|-8/5451||-7828|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-410T>G|p.?|100/3682|81/2280||410|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-410T>G|p.?|188/3696|81/2100||410|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-410T>G|p.?|194/7151|81/5655||410| GT:AD:DP:GQ:PS 0|1:13,9:22:46:41268206 +17 41268208 . C CT . . clinvar_vcv=VCV000264808.2;clinvar_germline_classification=Benign;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-413_81-412insA|p.?|194/7088|81/5592||413|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+7825_-8+7826insA|p.?|187/7028|-8/5451||-7826|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-413_81-412insA|p.?|100/3682|81/2280||413|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-413_81-412insA|p.?|188/3696|81/2100||413|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-413_81-412insA|p.?|194/7151|81/5655||413| GT:AD:DP:GQ:PS 0|1:13,9:22:46:41268206 +17 41270229 . T G . . clinvar_vcv=VCV000209545.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2433A>C|p.?|194/7088|81/5592||2433|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5805A>C|p.?|187/7028|-8/5451||-5805|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2433A>C|p.?|100/3682|81/2280||2433|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2433A>C|p.?|188/3696|81/2100||2433|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2433A>C|p.?|194/7151|81/5655||2433| GT:AD:DP:GQ 0/1:7,17:24:40 +17 41270277 . C T . . clinvar_vcv=VCV000209547.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2481G>A|p.?|194/7088|81/5592||2481|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5757G>A|p.?|187/7028|-8/5451||-5757|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2481G>A|p.?|100/3682|81/2280||2481|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2481G>A|p.?|188/3696|81/2100||2481|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2481G>A|p.?|194/7151|81/5655||2481| GT:AD:DP:GQ 0/1:9,13:22:48 +17 41270463 . G A . . clinvar_vcv=VCV000209551.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2667C>T|p.?|194/7088|81/5592||2667|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5571C>T|p.?|187/7028|-8/5451||-5571|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2667C>T|p.?|100/3682|81/2280||2667|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2667C>T|p.?|188/3696|81/2100||2667|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2667C>T|p.?|194/7151|81/5655||2667| GT:AD:DP:GQ 0/1:15,13:28:48 +17 41270666 . C A . . clinvar_vcv=VCV000209552.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2870G>T|p.?|194/7088|81/5592||2870|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5368G>T|p.?|187/7028|-8/5451||-5368|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2870G>T|p.?|100/3682|81/2280||2870|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2870G>T|p.?|188/3696|81/2100||2870|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2870G>T|p.?|194/7151|81/5655||2870| GT:AD:DP:GQ 0/1:11,4:15:43 +17 41270778 . C CT . . clinvar_vcv=VCV000264797.2;clinvar_germline_classification=Benign;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2983_81-2982insA|p.?|194/7088|81/5592||2983|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5255_-8+5256insA|p.?|187/7028|-8/5451||-5256|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2983_81-2982insA|p.?|100/3682|81/2280||2983|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2983_81-2982insA|p.?|188/3696|81/2100||2983|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2983_81-2982insA|p.?|194/7151|81/5655||2983| GT:AD:DP:GQ 0/1:11,5:16:14 17 41271293 . GA G . . ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-3498delT|p.?|194/7088|81/5592||3498|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+4740delT|p.?|187/7028|-8/5451||-4740|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-3498delT|p.?|100/3682|81/2280||3498|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-3498delT|p.?|188/3696|81/2100||3498|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-3498delT|p.?|194/7151|81/5655||3498| GT:AD:DP:GQ 0/1:10,10:20:48 -17 41273095 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191505;clinvar_vcv=VCV000209559;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2939C>T|p.?|193/7088|80/5592||-2939|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2939C>T|p.?|187/7028|-8/5451||-2939|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2939C>T|p.?|99/3682|80/2280||-2939|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2939C>T|p.?|187/3696|80/2100||-2939|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2939C>T|p.?|193/7151|80/5655||-2939| GT:AD:DP:GQ 0/1:12,8:20:47 -17 41273348 . T C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191507;clinvar_vcv=VCV000209561;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2686A>G|p.?|193/7088|80/5592||-2686|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2686A>G|p.?|187/7028|-8/5451||-2686|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2686A>G|p.?|99/3682|80/2280||-2686|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2686A>G|p.?|187/3696|80/2100||-2686|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2686A>G|p.?|193/7151|80/5655||-2686| GT:AD:DP:GQ 0/1:18,13:31:47 -17 41273379 . G C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191508;clinvar_vcv=VCV000209562;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2655C>G|p.?|193/7088|80/5592||-2655|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2655C>G|p.?|187/7028|-8/5451||-2655|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2655C>G|p.?|99/3682|80/2280||-2655|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2655C>G|p.?|187/3696|80/2100||-2655|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2655C>G|p.?|193/7151|80/5655||-2655| GT:AD:DP:GQ 0/1:19,14:33:47 -17 41273537 . A C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191510;clinvar_vcv=VCV000209564;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2497T>G|p.?|193/7088|80/5592||-2497|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2497T>G|p.?|187/7028|-8/5451||-2497|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2497T>G|p.?|99/3682|80/2280||-2497|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2497T>G|p.?|187/3696|80/2100||-2497|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2497T>G|p.?|193/7151|80/5655||-2497| GT:AD:DP:GQ 0/1:14,19:33:48 -17 41274778 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191511;clinvar_vcv=VCV000209565;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+1256C>T|p.?|193/7088|80/5592||-1256|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+1256C>T|p.?|187/7028|-8/5451||-1256|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+1256C>T|p.?|99/3682|80/2280||-1256|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+1256C>T|p.?|187/3696|80/2100||-1256|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+1256C>T|p.?|193/7151|80/5655||-1256| GT:AD:DP:GQ 0/1:11,16:27:48 -17 41274906 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191514;clinvar_vcv=VCV000209568;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+1128C>T|p.?|193/7088|80/5592||-1128|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+1128C>T|p.?|187/7028|-8/5451||-1128|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+1128C>T|p.?|99/3682|80/2280||-1128|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+1128C>T|p.?|187/3696|80/2100||-1128|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+1128C>T|p.?|193/7151|80/5655||-1128| GT:AD:DP:GQ 0/1:17,10:27:47 -17 41275081 . G GA . . clinvar_clinsig=benign;clinvar_rcv=RCV000191515;clinvar_vcv=VCV000209569;ANN=GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+952_80+953insT|p.?|193/7088|80/5592||-953|,GA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+952_-8+953insT|p.?|187/7028|-8/5451||-953|,GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+952_80+953insT|p.?|99/3682|80/2280||-953|,GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+952_80+953insT|p.?|187/3696|80/2100||-953|,GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+952_80+953insT|p.?|193/7151|80/5655||-953| GT:AD:DP:GQ 0/1:10,12:22:47 -17 41275151 . G C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191516;clinvar_vcv=VCV000209570;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+883C>G|p.?|193/7088|80/5592||-883|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+883C>G|p.?|187/7028|-8/5451||-883|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+883C>G|p.?|99/3682|80/2280||-883|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+883C>G|p.?|187/3696|80/2100||-883|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+883C>G|p.?|193/7151|80/5655||-883| GT:AD:DP:GQ 0/1:15,13:28:48 +17 41273095 . G A . . clinvar_vcv=VCV000209559.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2939C>T|p.?|193/7088|80/5592||-2939|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2939C>T|p.?|187/7028|-8/5451||-2939|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2939C>T|p.?|99/3682|80/2280||-2939|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2939C>T|p.?|187/3696|80/2100||-2939|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2939C>T|p.?|193/7151|80/5655||-2939| GT:AD:DP:GQ 0/1:12,8:20:47 +17 41273348 . T C . . clinvar_vcv=VCV000209561.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2686A>G|p.?|193/7088|80/5592||-2686|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2686A>G|p.?|187/7028|-8/5451||-2686|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2686A>G|p.?|99/3682|80/2280||-2686|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2686A>G|p.?|187/3696|80/2100||-2686|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2686A>G|p.?|193/7151|80/5655||-2686| GT:AD:DP:GQ 0/1:18,13:31:47 +17 41273379 . G C . . clinvar_vcv=VCV000209562.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2655C>G|p.?|193/7088|80/5592||-2655|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2655C>G|p.?|187/7028|-8/5451||-2655|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2655C>G|p.?|99/3682|80/2280||-2655|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2655C>G|p.?|187/3696|80/2100||-2655|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2655C>G|p.?|193/7151|80/5655||-2655| GT:AD:DP:GQ 0/1:19,14:33:47 +17 41273537 . A C . . clinvar_vcv=VCV000209564.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2497T>G|p.?|193/7088|80/5592||-2497|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2497T>G|p.?|187/7028|-8/5451||-2497|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2497T>G|p.?|99/3682|80/2280||-2497|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2497T>G|p.?|187/3696|80/2100||-2497|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2497T>G|p.?|193/7151|80/5655||-2497| GT:AD:DP:GQ 0/1:14,19:33:48 +17 41274778 . G A . . clinvar_vcv=VCV000209565.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+1256C>T|p.?|193/7088|80/5592||-1256|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+1256C>T|p.?|187/7028|-8/5451||-1256|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+1256C>T|p.?|99/3682|80/2280||-1256|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+1256C>T|p.?|187/3696|80/2100||-1256|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+1256C>T|p.?|193/7151|80/5655||-1256| GT:AD:DP:GQ 0/1:11,16:27:48 +17 41274906 . G A . . clinvar_vcv=VCV000209568.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+1128C>T|p.?|193/7088|80/5592||-1128|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+1128C>T|p.?|187/7028|-8/5451||-1128|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+1128C>T|p.?|99/3682|80/2280||-1128|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+1128C>T|p.?|187/3696|80/2100||-1128|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+1128C>T|p.?|193/7151|80/5655||-1128| GT:AD:DP:GQ 0/1:17,10:27:47 +17 41275081 . G GA . . clinvar_vcv=VCV000209569.2;clinvar_germline_classification=Benign;ANN=GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+952_80+953insT|p.?|193/7088|80/5592||-953|,GA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+952_-8+953insT|p.?|187/7028|-8/5451||-953|,GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+952_80+953insT|p.?|99/3682|80/2280||-953|,GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+952_80+953insT|p.?|187/3696|80/2100||-953|,GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+952_80+953insT|p.?|193/7151|80/5655||-953| GT:AD:DP:GQ 0/1:10,12:22:47 +17 41275151 . G C . . clinvar_vcv=VCV000209570.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+883C>G|p.?|193/7088|80/5592||-883|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+883C>G|p.?|187/7028|-8/5451||-883|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+883C>G|p.?|99/3682|80/2280||-883|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+883C>G|p.?|187/3696|80/2100||-883|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+883C>G|p.?|193/7151|80/5655||-883| GT:AD:DP:GQ 0/1:15,13:28:48 17 41275366 . GTTTTTTT G . . ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+661_80+667delAAAAAAA|p.?|193/7088|80/5592||-661|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+661_-8+667delAAAAAAA|p.?|187/7028|-8/5451||-661|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+661_80+667delAAAAAAA|p.?|99/3682|80/2280||-661|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+661_80+667delAAAAAAA|p.?|187/3696|80/2100||-661|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+661_80+667delAAAAAAA|p.?|193/7151|80/5655||-661| GT:AD:DP:GQ 0/1:10,11:21:48 -17 41275645 . A G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191517;clinvar_vcv=VCV000209571;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+389T>C|p.?|193/7088|80/5592||-389|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+389T>C|p.?|187/7028|-8/5451||-389|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+389T>C|p.?|99/3682|80/2280||-389|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+389T>C|p.?|187/3696|80/2100||-389|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+389T>C|p.?|193/7151|80/5655||-389| GT:AD:DP:GQ 0/1:15,17:32:48 -17 41276247 . A G . . gnomad_exomes_an=31318;gnomad_exomes_hom=1611;gnomad_exomes_het=6702;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000111495;clinvar_vcv=VCV000125468;ANN=G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|1/22|c.-19-115T>C|p.?|95/7088|-19/5592||115|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|1/21|c.-106-115T>C|p.?|89/7028|-106/5451||115|,G|upstream_gene_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|||||||115|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|1/21|c.-19-115T>C|p.?|89/3696|-19/2100||115|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|1/23|c.-19-115T>C|p.?|95/7151|-19/5655||115| GT:AD:DP:GQ 0/1:18,10:28:44 -17 41276348 . T C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191520;clinvar_vcv=VCV000209574;ANN=C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|1/22|c.-19-216A>G|p.?|95/7088|-19/5592||216|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|1/21|c.-106-216A>G|p.?|89/7028|-106/5451||216|,C|upstream_gene_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|||||||216|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|1/21|c.-19-216A>G|p.?|89/3696|-19/2100||216|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|1/23|c.-19-216A>G|p.?|95/7151|-19/5655||216| GT:AD:DP:GQ 0/1:17,13:30:47 -17 41277187 . G C . . gnomad_exomes_an=29432;gnomad_exomes_hom=4088;gnomad_exomes_het=6345;gnomad_genomes_an=128296;gnomad_genomes_hom=11705;gnomad_genomes_het=29182;clinvar_clinsig=benign;clinvar_rcv=RCV000169537;clinvar_vcv=VCV000189123;ANN=C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|1/22|c.-20+101C>G|p.?|94/7088|-20/5592||-101|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|1/21|c.-107+107C>G|p.?|88/7028|-107/5451||-107|,C|upstream_gene_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|||||||1055|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|1/21|c.-20+107C>G|p.?|88/3696|-20/2100||-107|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|1/23|c.-20+101C>G|p.?|94/7151|-20/5655||-101| GT:AD:DP:GQ 0/1:14,14:28:48 +17 41275645 . A G . . clinvar_vcv=VCV000209571.3;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+389T>C|p.?|193/7088|80/5592||-389|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+389T>C|p.?|187/7028|-8/5451||-389|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+389T>C|p.?|99/3682|80/2280||-389|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+389T>C|p.?|187/3696|80/2100||-389|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+389T>C|p.?|193/7151|80/5655||-389| GT:AD:DP:GQ 0/1:15,17:32:48 +17 41276247 . A G . . gnomad_exomes_an=31318;gnomad_exomes_hom=1611;gnomad_exomes_het=6702;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_vcv=VCV000125468.4;clinvar_germline_classification=Benign;ANN=G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|1/22|c.-19-115T>C|p.?|95/7088|-19/5592||115|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|1/21|c.-106-115T>C|p.?|89/7028|-106/5451||115|,G|upstream_gene_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|||||||115|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|1/21|c.-19-115T>C|p.?|89/3696|-19/2100||115|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|1/23|c.-19-115T>C|p.?|95/7151|-19/5655||115| GT:AD:DP:GQ 0/1:18,10:28:44 +17 41276348 . T C . . clinvar_vcv=VCV000209574.3;clinvar_germline_classification=Benign;ANN=C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|1/22|c.-19-216A>G|p.?|95/7088|-19/5592||216|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|1/21|c.-106-216A>G|p.?|89/7028|-106/5451||216|,C|upstream_gene_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|||||||216|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|1/21|c.-19-216A>G|p.?|89/3696|-19/2100||216|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|1/23|c.-19-216A>G|p.?|95/7151|-19/5655||216| GT:AD:DP:GQ 0/1:17,13:30:47 +17 41277187 . G C . . gnomad_exomes_an=29432;gnomad_exomes_hom=4088;gnomad_exomes_het=6345;gnomad_genomes_an=128296;gnomad_genomes_hom=11705;gnomad_genomes_het=29182;clinvar_vcv=VCV000189123.4;clinvar_germline_classification=Benign;ANN=C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|1/22|c.-20+101C>G|p.?|94/7088|-20/5592||-101|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|1/21|c.-107+107C>G|p.?|88/7028|-107/5451||-107|,C|upstream_gene_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|||||||1055|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|1/21|c.-20+107C>G|p.?|88/3696|-20/2100||-107|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|1/23|c.-20+101C>G|p.?|94/7151|-20/5655||-101| GT:AD:DP:GQ 0/1:14,14:28:48 MT 152 . T C . . . GT:GQ:AD:DP 1/1:98:2,10582:10584 -MT 263 . A G . . . GT:GQ:AD:DP 1/1:98:0,7628:7628 +MT 263 . A G . . clinvar_vcv=VCV000441147.1;clinvar_germline_classification=not provided GT:GQ:AD:DP 1/1:98:0,7628:7628 MT 302 . A AC . . . GT:GQ:AD:DP 1/1:97:40,3496:3536 MT 310 . T TC . . . GT:GQ:AD:DP 1/1:97:100,3642:3742 MT 310 . T C . . . GT:GQ:AD:DP 0/1:22:3649,93:3742 @@ -142,8 +142,8 @@ MT 596 . T A . . . GT:GQ:AD:DP 0/1:18:7690,160:7850 MT 605 . T A . . . GT:GQ:AD:DP 0/1:22:5916,142:6058 MT 610 . T A . . . GT:GQ:AD:DP 0/1:3:5986,143:6129 MT 616 . T A . . . GT:GQ:AD:DP 0/1:0:6178,83:6261 -MT 750 . A G . . . GT:GQ:AD:DP 1/1:98:1,7818:7819 -MT 1438 . A G . . . GT:GQ:AD:DP 1/1:98:2,9168:9170 +MT 750 . A G . . clinvar_vcv=VCV000441148.2;clinvar_germline_classification=association not found GT:GQ:AD:DP 1/1:98:1,7818:7819 +MT 1438 . A G . . clinvar_vcv=VCV000042220.4;clinvar_germline_classification=Benign GT:GQ:AD:DP 1/1:98:2,9168:9170 MT 2141 . T TAG . . . GT:GQ:AD:DP 0/1:20:6260,26:6286 MT 2259 . C T . . . GT:GQ:AD:DP 1/1:98:3,7525:7528 MT 2645 . G A . . . GT:GQ:AD:DP 0/1:22:9159,34:9193 @@ -162,23 +162,23 @@ MT 3614 . T A . . . GT:GQ:AD:DP 0/1:20:5553,136:5689 MT 3631 . T A . . . GT:GQ:AD:DP 0/1:20:5740,153:5893 MT 3633 . T A . . . GT:GQ:AD:DP 0/1:11:5829,114:5943 MT 4434 . T G . . . GT:GQ:AD:DP 0/1:1:7711,167:7878 -MT 4491 . G A . . . GT:GQ:AD:DP 0/1:14:6096,12:6108 +MT 4491 . G A . . clinvar_vcv=VCV000692448.1;clinvar_germline_classification=Benign GT:GQ:AD:DP 0/1:14:6096,12:6108 MT 4745 . A G . . . GT:GQ:AD:DP:PS 1|1:94:0,4255:4255:4745 -MT 4769 . A G . . . GT:GQ:AD:DP:PS 1|1:96:0,4115:4115:4745 +MT 4769 . A G . . clinvar_vcv=VCV000441150.2;clinvar_germline_classification=Benign GT:GQ:AD:DP:PS 1|1:96:0,4115:4115:4745 MT 6518 . C T . . . GT:GQ:AD:DP 0/1:21:9464,40:9504 MT 7337 . G A . . . GT:GQ:AD:DP 1/1:93:2,8853:8855 MT 8129 . A C . . . GT:GQ:AD:DP 0/1:20:7971,202:8173 -MT 8860 . A G . . . GT:GQ:AD:DP 1/1:92:0,4988:4988 +MT 8860 . A G . . clinvar_vcv=VCV000693004.1;clinvar_germline_classification=Benign GT:GQ:AD:DP 1/1:92:0,4988:4988 MT 13326 . T C . . . GT:GQ:AD:DP 1/1:98:2,9161:9163 MT 13680 . C T . . . GT:GQ:AD:DP 1/1:98:25,5556:5581 MT 13680 . C G . . . GT:GQ:AD:DP 0/1:26:5557,24:5581 MT 13752 . T G . . . GT:GQ:AD:DP 0/1:22:4714,65:4779 -MT 13762 . T G . . . GT:GQ:AD:DP 0/1:22:4509,180:4689 +MT 13762 . T G . . clinvar_vcv=VCV000693603.1;clinvar_germline_classification=Benign GT:GQ:AD:DP 0/1:22:4509,180:4689 MT 13768 . T G . . . GT:GQ:AD:DP 0/1:22:4623,155:4778 MT 13769 . T G . . . GT:GQ:AD:DP 0/1:22:4684,115:4799 -MT 14831 . G A . . . GT:GQ:AD:DP 1/1:98:17,8829:8846 -MT 14831 . G C . . . GT:GQ:AD:DP 0/1:50:8832,14:8846 +MT 14831 . G A . . clinvar_vcv=VCV000065517.4;clinvar_germline_classification=Benign GT:GQ:AD:DP 1/1:98:17,8829:8846 +MT 14831 . G C . . clinvar_vcv=VCV000693773.1;clinvar_germline_classification=Uncertain significance GT:GQ:AD:DP 0/1:50:8832,14:8846 MT 14872 . C T . . . GT:GQ:AD:DP 1/1:98:5,6662:6667 MT 14918 . G A . . . GT:GQ:AD:DP 0/1:21:6570,237:6807 -MT 15326 . A G . . . GT:GQ:AD:DP 1/1:98:1,7647:7648 -MT 16023 . G A . . . GT:GQ:AD:DP 0/1:52:2572,6705:9277 +MT 15326 . A G . . clinvar_vcv=VCV000140592.4;clinvar_germline_classification=Benign GT:GQ:AD:DP 1/1:98:1,7647:7648 +MT 16023 . G A . . clinvar_vcv=VCV001684921.1;clinvar_germline_classification=Uncertain significance GT:GQ:AD:DP 0/1:52:2572,6705:9277 diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_4_vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_4_vcf.snap index 8c98486c..c90e9563 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_4_vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_4_vcf.snap @@ -54,4 +54,4 @@ expression: "std::fs::read_to_string(&args.path_out)?" ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT NA12878 17 41256074 . CA C . . gnomad_exomes_an=20150;gnomad_exomes_hom=2725;gnomad_exomes_het=5476;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+64delT|p.?|554/7088|441/5592||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+64delT|p.?|494/7028|300/5451||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+64delT|p.?|460/3682|441/2280||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+64delT|p.?|548/3696|441/2100||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+64delT|p.?|554/7151|441/5655||-64| GT:AD:DP:GQ:PS 0|1:11,6:17:43:41256074 -MT 750 . A G . . . GT:GQ:AD:DP 1/1:98:1,7818:7819 +MT 750 . A G . . clinvar_vcv=VCV000441148.2;clinvar_germline_classification=association not found GT:GQ:AD:DP 1/1:98:1,7818:7819 diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_9_vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_9_vcf.snap index d81dda30..4e52d004 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_9_vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_dragen_07_021_624_3_10_9_vcf.snap @@ -54,4 +54,4 @@ expression: "std::fs::read_to_string(&args.path_out)?" ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT CASE 17 41256074 . CA C . . gnomad_exomes_an=20150;gnomad_exomes_hom=2725;gnomad_exomes_het=5476;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+64delT|p.?|554/7088|441/5592||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+64delT|p.?|494/7028|300/5451||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+64delT|p.?|460/3682|441/2280||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+64delT|p.?|548/3696|441/2100||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+64delT|p.?|554/7151|441/5655||-64| GT:AD:DP:GQ:PS 0|1:18,14:32:47:41256074 -MT 750 . A G . . . GT:GQ:AD:DP 1/1:98:1,5607:5608 +MT 750 . A G . . clinvar_vcv=VCV000441148.2;clinvar_germline_classification=association not found GT:GQ:AD:DP 1/1:98:1,5607:5608 diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_3_7-0_vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_3_7-0_vcf.snap index de2d2716..e3de4dd7 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_3_7-0_vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_3_7-0_vcf.snap @@ -58,4 +58,4 @@ expression: "std::fs::read_to_string(&args.path_out)?" ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Case_1_father-N1-DNA1-WGS1 Case_1_index-N1-DNA1-WGS1 Case_1_mother-N1-DNA1-WGS1 17 41210126 . C CTAGCACTT . . ANN=CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|18/22|c.5194-975_5194-974insAAGTGCTA|p.?|5307/7088|5194/5592||975|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|17/21|c.5053-975_5053-974insAAGTGCTA|p.?|5247/7028|5053/5451||975|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|17/21|c.1882-975_1882-974insAAGTGCTA|p.?|1901/3682|1882/2280||975|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|18/21|c.1882-975_1882-974insAAGTGCTA|p.?|1989/3696|1882/2100||975|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|19/23|c.5257-975_5257-974insAAGTGCTA|p.?|5370/7151|5257/5655||975| GT:AD:DP:GQ 0/0:29,0:29:87 0/1:23,13:36:99 0/1:15,17:32:99 -MT 750 . A G . . . GT:AD:DP:GQ 1/1:0,2757:2757:99 1/1:0,2392:2392:99 1/1:0,1621:1621:99 +MT 750 . A G . . clinvar_vcv=VCV000441148.2;clinvar_germline_classification=association not found GT:AD:DP:GQ 1/1:0,2757:2757:99 1/1:0,2392:2392:99 1/1:0,1621:1621:99 diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_4_4_0_0_vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_4_4_0_0_vcf.snap index 1c74c6d3..55ce4ffd 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_4_4_0_0_vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test@example_gatk_hc_4_4_0_0_vcf.snap @@ -54,4 +54,4 @@ expression: "std::fs::read_to_string(&args.path_out)?" ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT CASE 17 41256074 . CA C . . gnomad_exomes_an=20150;gnomad_exomes_hom=2725;gnomad_exomes_het=5476;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+64delT|p.?|554/7088|441/5592||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+64delT|p.?|494/7028|300/5451||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+64delT|p.?|460/3682|441/2280||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+64delT|p.?|548/3696|441/2100||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+64delT|p.?|554/7151|441/5655||-64| GT:AD:DP:GQ:PS 1|1:0,80:80:99:41256074 -MT 750 . A G . . . GT:AD:DP:GQ 1/1:0,35:35:99 +MT 750 . A G . . clinvar_vcv=VCV000441148.2;clinvar_germline_classification=association not found GT:AD:DP:GQ 1/1:0,35:35:99 diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_gz.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_gz.snap index 87c6a811..73da644f 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_gz.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_gz.snap @@ -3,547 +3,552 @@ source: src/seqvars/ingest/mod.rs expression: "String::from_utf8_lossy(&buffer)" --- 0000: 1F 8B 08 04 00 00 00 00 00 FF 06 00 42 43 02 00 ............BC.. -0016: 1E 1F BD 9D 5B 73 DB 38 96 C7 9F BD 9F C2 95 AE ....[s.8........ -0032: 9A 79 88 ED E0 7E 51 D6 D9 D2 C8 89 3A B5 B9 8D .y...~Q.....:... -0048: A3 E9 D9 7D 52 B9 1D 75 E2 9A 58 CE DA 4E 6F F7 ...}R..u..X..No. -0064: 96 3E FC 1E 90 20 09 92 07 8A 4D 10 74 2A A1 22 .>........M.t*." -0080: C8 3C 87 07 BF 3F 71 70 21 F4 D3 4F BF 5D 7D DD .<...?qp!..O.]}. -0096: FC 76 73 7B 7D 71 7F FA CB E2 D5 EF E2 44 FC DB .vs{}q.......D.. -0112: 4F 3F BD 7E F7 EA FD E9 BF BF 3E 3B FD BC BD B9 O?.~......>;.... -0128: BE F8 B4 DE FC 71 73 BD B9 5B 5F 6C 8F DE 7D BF .....qs..[_l..}. -0144: FE 75 73 7B 4A 8F 56 7F 7E DB 9C BE DE DE 6F 3E .us{J.V.~.....o> -0160: 6F 6E 8F CE 36 77 97 B7 57 DF EE AF 6E B6 A7 4F on..6w..W...n..O -0176: CA 8F 1C DE FC 76 78 F1 F5 EB E6 EB E6 EE F0 6A .....vx........j -0192: 7B E8 4E 34 3F 3B 2C 4F F4 E4 45 DC C6 97 9B EB {.N4?;,O..E..... -0208: C7 19 81 5F 38 01 4B F7 27 87 97 17 B7 B7 57 9B ..._8.K.'.....W. -0224: DB 47 DA DB DC 3F D2 DE E6 3E CD DE F5 D5 63 0D .G...?...>....c. -0240: 5E 5F 0D B2 F8 79 B3 1D A9 DA FC 99 F6 5A 19 B7 ^_...y.......Z.. -0256: E2 1E 64 71 D4 AA 7B 98 C5 71 2B 0F B5 F9 65 F3 ..dq..{..q+...e. -0272: F5 EA 8F 94 4A FB D9 9D E0 ED FD D9 AF D8 79 47 ....J.........yG -0288: AA A6 FD 36 C6 A9 98 88 8D F9 BB 77 D5 D9 4F CA ...6.......w..O. -0304: B3 7F BC BF BD DA 7E 6E 9F FC D5 F7 ED A5 7B 75 ......~n......{u -0320: F1 F5 F0 62 BB BD B9 BF 70 FF B9 9B 1D FE 75 5E ...b....p.....u^ -0336: 04 EA 70 77 38 AF DF 6E FD 67 FD FA FA DB C5 E5 ..pw8..n.g...... -0352: 3D BC B7 DC 6C 37 EB 77 17 D7 9B EA F5 EB 33 78 =...l7.w......3x -0368: F5 6A 73 71 FF FD 76 B3 76 96 83 FF 16 65 AB DB .jsq..v.v....e.. -0384: 8B 6D E9 C3 FA 6F 57 37 FE 13 E7 17 DB 7F C1 E1 .m...oW7........ -0400: E7 E5 2F 1F 4F 2E AB 17 DF E0 C5 E5 D9 BB F9 C9 ../.O........... -0416: B7 9B BB C3 67 E5 CB AF 9B ED E7 FB 2F 50 B0 38 ....g......./P.8 -0432: FB E8 DF 77 AF EA B7 E7 D5 A7 E7 C1 67 CF AE EE ...w........g... -0448: EE 2F B6 97 CE D0 CB F3 F3 F7 E7 1F A1 FC 9F F3 ./.............. -0464: F3 77 AF DF 2D DD 4B 17 B5 BF 16 F1 7B F5 FA CD .w..-.K.....{... -0480: EA E5 79 11 C1 0F F3 8F 1F DB D1 82 A0 1C 42 4B ..y...........BK -0496: 70 EF 22 FF ED E2 EE 6E F3 A9 FC 9D F7 E7 6F E7 p."....n......o. -0512: AB 32 EA 67 55 D0 CF F7 54 E9 F9 E6 E2 D3 E1 A7 .2.gU...T....... -0528: CD 37 70 0D 1A 95 C3 CD C5 E5 17 4F 66 F7 7C 67 .7p........Of.|g -0544: 1F 1E 82 48 73 BE EE EF 2F FF FE 90 DF 5F DC 6C ...Hs.../...._.l -0560: 3F 5D 79 0C 9C D8 EE 5D 95 FC CF F7 8B AF 57 F7 ?]y....]......W. -0576: 7F F6 CE B8 EA 9C 11 C3 6A E9 4F D2 FD E5 0F 1F ........j.O..... -0592: 1F E2 CE 87 2F 17 77 9B C3 BB CD 7D F1 EB 97 37 ..../.w....}...7 -0608: DB FB AB CF C5 AF D3 A3 B2 42 4F 99 B0 4C 12 C5 .........BO..L.. -0624: E8 91 AB 85 EB 5F BF FE 09 36 CF 17 5F B8 7E 72 ....._...6.._.~r -0640: 74 F7 6D 73 79 B5 B9 3B 7D F2 F3 CD F5 CD E1 DD t.msy..;}....... -0656: C5 B7 AB CD F6 AE 7B 26 D6 9C 89 53 6B B9 E6 43 ......{&...Sk..C -0672: CF C4 AB 33 51 6B 08 83 D3 91 A1 67 12 CD 99 28 ...3Qk.....g...( -0688: 95 82 69 35 F4 4C B2 3E 93 21 96 4A A6 06 FB A4 ..i5.L.>.!.J.... -0704: EA 33 69 0A 4E 11 A5 87 9E 49 D7 67 92 96 72 A3 .3i.N....I.g..r. -0720: D4 E0 88 9B FA 4C 42 71 25 20 E8 43 CF 64 9B 33 .....LBq%..C.d.3 -0736: 51 46 39 A0 30 F4 4C 94 D4 A7 E2 52 72 A1 C5 E0 QF9.0.L....Rr... -0752: 40 51 1A 9C 8A 10 25 E9 60 0E 28 6B 4E C5 8D A4 @Q....%.`.(kN... -0768: C6 CA C1 A7 6A 38 A7 E0 91 35 DA 0C 3E 55 03 3A ....j8...5..>U.: -0784: D1 5C 58 29 06 E3 49 1B D2 09 93 9C 72 3B 98 05 .\X)..I.....r;.. -0800: 5A A3 6E 09 97 42 CB C1 7C D2 1A 75 43 A9 95 8C Z.n..B..|..uC... -0816: 0E BF BC 1A 75 6D 88 D6 4C 0C 8F 79 8D 3A A8 8F ....um..L..y.:.. -0832: 19 6B 06 5F 1D AB 49 57 1C 62 2E D9 E0 AB 63 35 .k._..IW.b....c5 -0848: E8 C2 50 66 13 E0 64 35 E7 92 72 22 A4 1A AC 98 ..Pf..d5..r".... -0864: FF 6A EE 52 92 69 22 87 DF 39 FF BB 09 38 B4 2E .j.R.i"..9...8.. -0880: 09 2E BD 5D D5 3E 29 A9 EC A3 4E E3 BA AD 67 17 ...].>)...N...g. -0896: F7 1B A8 35 06 81 61 14 DE FB 38 7F FB E1 CD CB ...5..a...8..... -0912: E2 D4 EF E6 C0 02 08 F9 E3 E6 0F 48 05 37 D7 17 ...........H.7.. -0928: 90 80 1C 41 AA B4 81 F6 17 B2 9D DF 7E DB 5C DE ...A........~.\. -0944: FB 1C E7 C3 CB B3 D7 CB F3 97 AD DF 73 EF FF 71 ............s..q -0960: FC FB C5 ED 6F 57 77 5F 8E 2F E1 97 8E BF 7F BF ....oWw_./...... -0976: FA 74 4A FC CF 31 F2 4F F5 D3 FA D5 DF 21 A1 72 .tJ..1.O.....!.r -0992: 2D BF 3B 77 F5 DE DD E6 16 DE 3E FE DF 9B DB 7F -.;w......>..... -1008: 41 7E F0 8B FF C4 93 3F 4E FE 3C F9 BF 27 2F A2 A~.....?N.<..'/. -1024: BF 7E 73 7B F5 19 5C 81 64 EA F6 C8 25 A5 A7 4F .~s{..\.d...%..O -1040: CE 6E 2F 20 A7 79 D2 9C E2 E3 3F 67 87 44 9F 10 .n/..y....?g.D.. -1056: 46 4F 14 13 27 FC 84 92 13 71 74 F8 73 EB 6D 67 FO..'....qt.s.mg -1072: 62 F1 F3 F9 FB B7 07 1F DE 7F 3C 78 7D 76 70 FE b...........1.. -1168: 68 18 9F F7 BB 82 A7 52 6A C2 9F 5F 7E BD DA 42 h......Rj.._~..B -1184: F8 D6 EE 78 07 A0 FD BA D9 5E 7D DE D6 6F DF 5E ...x.....^}..o.^ -1200: FE 7E 7A BE F8 05 AE 81 42 C3 48 65 5D F0 3B 14 .~z.....B.He].;. -1216: FC 52 14 10 41 0D 35 CF A1 9B 71 BA D8 5D 5F 01 .R..A.5...q..]_. -1232: 94 DB BB CD 1A 3E 73 75 B1 BD DF BD 7D 7F F6 F2 .....>su....}... -1248: 7C BE 7A B9 FB DB F9 62 4E 77 3F 2F DF 2D 66 94 |.z....bNw?/.-f. -1264: 12 B2 BB AF 73 FF DD BB B7 6B 42 34 B3 30 98 B2 ....s....kB4.0.. -1280: 5B DC 7C 82 24 F2 2F 6F 2F B6 9B 8F 90 06 5F DE [.|.$./o/....._. -1296: EF 28 79 C6 F8 EE F2 04 EE C5 66 FE 62 B9 FB 76 .(y.......f.b..v -1312: F2 9F 94 1A 7E BE E3 4A D1 67 9A 18 B3 73 45 CF ....~..J.g...sE. -1328: A4 B4 6C E7 4A 9E 51 A3 C4 8E EC 8E 12 DD D1 B5 ..l.J.Q......... -1344: 3B 3B FB 8C 31 E7 82 20 BA 76 81 2B E7 02 71 2E ;;..1....v.+..q. -1360: 30 70 01 8A 9E 49 21 E9 CE 95 80 0B 54 97 2E 5C 0p...I!.....T..\ -1376: 6D EF 6F A1 97 14 38 F0 FA D5 EB 97 E7 0F 71 C0 m.o...8.......q. -1392: 9C F0 C0 01 0A 0E 68 63 8E AD A4 A5 0F FF B1 83 ......hc........ -1408: B6 E0 19 57 86 ED E0 7D F0 D0 90 DD 0E 4A 13 AD ...W...}.....J.. -1424: DA E6 B2 5D E8 31 B3 56 82 59 AB 4A B3 EE 34 95 ...].1.V.Y.J..4. -1440: D9 84 78 73 42 DA 86 45 BC CE 21 F1 F0 75 AE A4 ..xsB..E..!..u.. -1456: AC EA DC 48 08 F8 C1 72 35 9B 9F CD CE 3E CC 96 ...H...r5....>.. -1472: 7F 3F 20 CF E8 CC 1C 51 33 63 6A 26 78 2D 48 C1 .?.....Q3cj&x-H. -1488: E5 0F 04 C9 19 2A 48 22 31 41 0A 2A 51 41 52 C2 .....*H"1A.*QAR. -1504: 19 2E 48 2A 24 2E 48 CA F5 A3 04 09 49 61 4C 90 ..H*$.H.....IaL. -1520: 72 02 41 02 E9 65 E5 BC 84 6B 35 CB 1D 67 4C 79 r.A..e...k5..gLy -1536: 41 42 91 17 24 94 E4 13 24 BC C7 BC 0B D6 52 F0 AB..$...$.....R. -1552: 80 2A 55 EA D1 95 94 7A 84 82 9C 72 74 5D 98 3D .*U....z...rt].= -1568: 7A 74 C5 79 04 D9 32 DC 57 64 65 78 74 49 E2 B5 zt.y..2.WdextI.. -1584: 5E 48 B2 A8 F5 42 92 65 AD E3 92 84 CE 08 15 85 ^H...B.e........ -1600: 26 75 AD 49 CB 15 68 71 79 30 8F 6A 92 09 44 93 &u.I..hqy0.j..D. -1616: 02 5A 5A 4C 93 D2 8A 98 26 D1 46 92 31 CD 0D AE .ZZL....&.F.1... -1632: 49 48 91 1F A3 49 6A 83 46 B5 A3 49 56 68 72 9E IH...Ij.F..IVhr. -1648: 53 93 4C 51 B6 78 B1 82 DA F9 60 34 7D B3 63 9A S.LQ.x....`4}.c. -1664: C9 52 92 AE A4 94 24 14 D4 8A 9C 8F AE 48 A1 69 .R....$......H.i -1680: E5 00 13 E0 80 52 D2 2B 12 4A 4A 45 42 41 AD C8 .....R.+.JJEBA.. -1696: F9 D8 8A D4 4F A9 61 B2 74 C1 29 52 55 8A D4 5E ....O.a.t.)RU..^ -1712: 91 C7 AE 3C D1 30 2A C9 8E 65 2B 2A 49 6A 2F C9 ...<.0*..e+*Ij/. -1728: DA F2 D8 9A C4 6B DD 49 B2 AC 75 27 C9 B2 D6 23 .....k.I..u'...# -1744: 8A D4 47 94 CF 38 09 14 29 19 D7 A0 C4 39 68 32 ..G..8..)....9h2 -1760: A6 48 8A 29 92 C2 80 1C DE 4A AA 48 DA 2A 14 DE .H.).....J.H.*.. -1776: 4A 12 A9 71 45 12 F5 A8 B4 15 82 CE 10 45 52 E8 J..qE........ER. -1792: B2 42 C6 EC 14 B9 DC DD FD B9 BD D9 FE 79 7D F3 .B...........y}. -1808: FD AE AE 92 37 EF FF 39 82 1C E1 96 B8 7A B1 80 ....7..9.....z.. -1824: 8A 79 A3 35 3D 05 0D 00 FA A5 1C A1 A4 94 A3 0E .y.5=........... -1840: E4 98 E2 09 A2 45 AA 49 65 9D 09 B0 0E 83 64 5E .....E.Ie.....d^ -1856: 8B 50 52 6A 51 07 5A 5C 66 D0 A2 64 A2 74 21 A2 .PRjQ.Z\f..d.t!. -1872: 45 28 4F 34 1C D3 62 68 19 D3 A2 B7 3C 34 E0 B8 E(O4..bh....<4.. -1888: 10 D1 FA 2E 84 58 D4 B7 13 A2 DE 27 44 48 57 E9 .....X.....'DHW. -1904: 8C D9 99 50 B5 10 85 FA 51 D3 D8 34 5D A1 10 15 ...P....Q..4]... -1920: 61 78 FF D1 E2 4D 23 5C 66 A4 FF C8 48 AC FF F8 ax...M#\f...H... -1936: A8 74 95 6A C5 23 42 E4 CA 37 8D D9 84 48 8C BF .t.j.#B..7...H.. -1952: 43 7E 54 D6 49 01 C6 E3 BC 10 A1 A4 14 22 14 04 C~T.I........".. -1968: ED E2 98 42 A4 56 D0 CA BA D0 CE 3A F7 8D A2 2B ...B.V.....:...+ -1984: 29 85 08 05 59 1B 45 66 F7 37 8A 50 9E A9 51 0C )...Y.Ef.7.P..Q. -2000: 2D 63 42 F4 96 C7 15 22 5A DF 85 10 8B FA 76 42 -cB...."Z.....vB -2016: 2C EB 3B 22 44 7A 64 66 14 74 58 8F E3 68 CA 58 ,.;"Dzdf.tX..h.X -2032: D1 20 CE 17 8B 55 21 C5 87 A3 0F F3 1C 30 98 83 .....U!......0.. -2048: A1 0F 67 2D 7B 6A EE AC 29 C1 C7 F1 F7 FC 29 4D ..g-{j..).....)M -2064: 8F 99 50 EB F2 28 C1 DD F9 B2 EC 38 68 E3 DB 23 ..P..(.....8h..# -2080: A5 7D 73 04 F7 2C E8 37 A4 BA 13 68 C0 94 28 48 .}s..,.7...h..(H -2096: 4E 0A 1F CA 63 CB 07 E6 5B 25 28 2A B5 30 8E 0F N...c...[%(*.0.. -2112: 81 10 BC 0F F1 38 28 4B 4A 49 B8 38 94 92 18 C5 .....8(KJI.8.... -2128: 07 DB BA 17 EC F7 41 6B 53 8A A3 F0 A1 10 C7 08 ......AkS....... -2144: 3E B4 E4 61 CB BB E1 0F 78 70 32 29 78 70 2A 29 >..a....xp2)xp*) -2160: 7C D8 D3 50 C9 5A 20 8A 88 42 20 8B 01 EA C0 32 |..P.Z...B.....2 -2176: 34 06 B9 A1 D0 7E 1C 23 9F 34 C8 53 26 ED EA 45 4....~.#.4.S&..E -2192: 75 FD BC D2 03 F1 7A 38 86 E2 C4 1E 3C A2 06 66 u.....z8....<..f -2208: 5B 66 19 F7 12 60 D6 4B 60 04 B3 98 00 5A 57 AB [f...`.K`....ZW. -2224: 8C AD A8 27 55 43 90 6E 16 63 BE 1D 64 AD 2B D0 ...'UC.n.c..d.+. -2240: 49 D5 0A A4 9A C5 31 EF D7 6D C9 36 F1 6C 17 66 I.....1..m.6.l.f -2256: D1 01 0A 80 9B 07 DD 21 03 69 10 40 BD 38 18 72 .......!.i.@.8.r -2272: EB 17 31 B8 6D 01 77 86 FB BE 29 E1 86 61 90 63 ..1.m.w...)..a.c -2288: C6 E4 F2 C5 BC 0C 00 0C 4F 15 70 C3 FB D5 CD DE ........O.p..... -2304: 75 48 C7 BA D3 EB B2 B6 85 E4 A1 55 97 D8 14 6C uH.........U...l -2320: C3 FB D5 ED 3D D9 6A 80 B6 B7 DA B9 56 05 43 51 ....=.j.....V.CQ -2336: 05 DA EE 5A FD 0D 3D D9 AA ED EB B8 1B 61 5A 92 ...Z..=......aZ. -2352: 5D 58 2D 6F E1 89 56 5B 60 9B 12 6C AC 5E 1D D8 ]X-o..V[`..l.^.. -2368: 45 BD 96 37 6D B0 DA E7 5A 1C E9 19 A3 33 21 6A E..7m...Z....3!j -2384: AC B9 E5 05 D6 8B 79 FD 53 00 5E DC 74 9B F7 B2 ......y.S.^.t... -2400: 12 2A A4 5C 97 47 01 6A 5A D5 3F 31 66 E1 F3 70 .*.\.G.jZ.?1f..p -2416: AB 18 C7 39 9C 5E E7 51 79 44 3C 42 78 1E D3 23 ...9.^.QyD:....Nt....$..w -2624: B7 57 B1 BB 3D F5 D3 0C F9 E4 C5 9F 52 A5 AB E1 .W..=.......R... -2640: 6E 4D 54 A5 2E 5E 75 62 A1 38 71 9C 1D 93 17 0B nMT..^ub.8q..... -2656: CD 2A A1 2A 75 B1 AA 13 9B 6E 16 93 57 EB 6A DD .*.*u....n..W.j. -2672: 0C 97 57 17 AF 47 33 93 CD 62 F2 EA 04 99 54 EA ..W..G3..b....T. -2688: E2 F5 50 66 A2 59 5C 5E FD BA 2D D5 C5 AB 4E AC ..Pf.Y\^..-...N. -2704: 33 FB E3 44 06 A6 D8 5D AE BF 9A FB 3E 2C 22 2F 3..D...]....>,"/ -2720: 66 14 3E A5 87 4E B2 0B 74 26 E1 31 F2 CA D4 FB f.>..N..t&.1.... -2736: D5 5E 15 C2 1C 4B D3 DC 85 AB D5 62 F5 62 B1 9D .^...K.....b.b.. -2752: 34 E3 75 7E 95 D7 04 D1 2D A3 D5 FA B0 7A 79 58 4.u~....-....zyX -2768: BA D1 40 11 DE 68 E7 4A A5 F2 CB 50 DC 95 FA 0C ..@..h.J...P.... -2784: C8 8C D7 F5 D5 A8 51 40 D1 EB 41 54 4B 50 12 8D ......Q@..ATKP.. -2800: B6 D4 A0 BD 1A 90 3A 2D D4 50 2D 06 73 46 D1 01 ......:-.P-.sF.. -2816: 1D 3E 63 B2 51 83 24 44 E8 B2 E7 BB 6A F2 9F BC .>c.Q.$D....j... -2832: 2C 6A C1 D6 E5 91 BA 11 D7 18 94 F0 31 68 A3 33 ,j..........1h.3 -2848: 60 E9 EC 97 C7 C0 7E 9F CF 11 EC E3 84 62 D7 8F `.....~......b.. -2864: A0 3A 82 7D 1C 56 34 FE 7D 6A 93 ED C7 B8 8D D6 .:.}.V4.}j...... -2880: 7F 1B 60 67 BF 4F 30 77 43 37 90 2F 35 00 2B 6D ..`g.O0wC7./5.+m -2896: 42 80 1F 93 AA 08 74 8D 52 91 AA F8 85 BC 39 95 B.....t.R.....9. -2912: 00 53 82 94 F2 B5 7F 21 82 58 90 4A 0B BA 4E 5B .S.....!.X.J..N[ -2928: E0 03 39 D4 A0 4A 1F FC 8B C0 07 42 2A 3D A8 3A ..9..J.....B*=.: -2944: 87 19 C1 07 4C 11 B1 38 48 A5 2A 4D 34 D3 B3 23 ....L..8H.*M4..# -2960: F8 80 A9 22 5A 17 52 54 BA 68 26 6A 93 7D C0 95 ..."Z.RT.h&j.}.. -2976: B1 97 87 52 1B BA 4E 75 9C 0F 3D 75 A8 23 C8 74 ...R..Nu..=u.#.t -2992: 18 6B BA 12 92 58 C6 83 45 BE 8F 13 47 6C D4 46 .k...X..E...Gl.F -3008: 65 1B B5 09 B4 61 94 AD 56 75 62 82 80 E2 F1 BA e....a..Vub..... -3024: C9 81 1C 42 B3 88 06 D2 CD E2 0A 08 CC 62 D8 A7 ...B.........b.. -3040: 9B C5 A1 0F AF 16 21 3D D5 6C 8C F3 6E DD 76 E0 ......!=.l..n.v. -3056: 76 66 B1 3B BF 2D D8 AE E6 A2 24 E4 E3 B2 B8 F3 vf.;.-....$..... -3072: 2F 07 B0 6D 62 6C F3 5C 7D D4 80 6D 80 6F 59 F5 /..mbl.\}..m.oY. -3088: DA 10 B6 A1 78 BC 3E 6A C0 76 68 16 61 3B DD 2C ....x.>j.vh.a;., -3104: CE 76 60 16 63 3B DD 2C CE 76 78 B5 08 DB A9 66 .v`.c;.,.vx....f -3120: 63 6C 77 EB B6 C3 B6 33 8B 0D 4B 52 59 AC 04 AF clw....3..KRY... -3136: D3 1A 98 67 55 C5 8D 3B BA DC 8D 59 81 3F 2E 85 ...gU..;...Y.?.. -3152: 8E 01 29 3B DD 18 10 65 9A 69 7C 85 9B D1 D6 AF ..);...e.i|..... -3168: 70 CB 9A 57 09 35 7F B1 8A 27 53 C5 6A 92 0C A9 p..W.5...'S.j... -3184: 54 60 16 CB 9F 92 CD 46 B2 A7 C6 2C 9A 32 25 9B T`.....F...,.2%. -3200: 8D 24 4C C1 D5 62 59 52 A2 D9 68 8E D4 A9 DB 6E .$L..bYR..h....n -3216: 62 84 AE D2 E9 AE 62 93 4C 6A 19 AC 26 7D 54 DB b.....b.Lj..&}T. -3232: 41 69 AC ED 50 B9 D8 56 25 DB 42 B0 63 E8 EE 54 Ai..P..V%.B.c..T -3248: AB 08 A5 F4 6B 37 E1 FD 6A F6 40 9B F1 D0 96 65 ....k7..j.@....e -3264: 65 73 42 43 AB C2 FA 35 9B F0 7E 35 79 90 6C 35 esBC...5..~5y.l5 -3280: 20 DB 5B ED 5C AB 50 B4 24 DB 5D AB 9F 3B 48 B6 ..[.\.P.$.]..;H. -3296: 6A FB 32 EE 44 58 D8 12 EC C2 6A 39 75 90 68 B5 j.2.DX....j9u.h. -3312: C5 B5 2A B9 C6 EA D5 71 5D D4 6B 39 73 A0 DB C3 ..*....q].k9s... -3328: 39 B3 0F 1F 0F E8 8E CE C8 11 9F F1 19 0C E8 78 9..............x -3344: A6 1B BE 2D F5 0B 1A 82 71 9D F9 2A 2F 9A 56 AE ...-....q..*/.V. -3360: CB 63 D1 79 89 43 6A 8B 29 F0 55 06 4C C1 83 F2 .c.y.Cj.).U.L... -3376: 18 78 80 01 3B 82 07 11 64 B1 18 60 F0 8E E0 41 .x..;...d..`...A -3392: 04 5F B4 16 10 90 93 3D 88 A2 1C E5 A0 03 B5 95 ._.....=........ -3408: 11 A8 D9 0C 12 FD 1E D4 82 EA 70 5E EC 51 37 6D ..........p^.Q7m -3424: 16 1B E9 D1 26 57 C2 5F 2B 83 3E A5 56 C9 6A E6 ....&W._+.>.V.j. -3440: 42 4A 51 09 82 D6 19 09 94 8F 97 F2 D7 82 20 2D BJQ............- -3456: C3 C2 8A 4A 07 A4 CE 49 D2 0D 63 3A 68 5F 31 0C ...J...I..c:h_1. -3472: 18 54 F8 D3 3A 2B 49 37 8C E1 DF 09 B5 30 15 F5 .T..:+I7.....0.. -3488: B4 CE 4B 52 0D E3 D4 23 75 5C C2 4E EB CC C4 19 ..KR...#u\.N.... -3504: C6 D6 A2 B9 21 79 1D E4 26 82 6B E1 47 34 FD 4F ....!y..&.k.G4.O -3520: 30 32 5F AD E5 C9 4A AB 56 62 ED 5F 14 8B A2 AB 02_...J.Vb._.... -3536: A5 4A 51 7C B5 8B E9 28 CE 45 30 76 1E F9 17 3D .JQ|...(.E0v...= -3552: 8F 50 AE C7 F3 28 C2 F7 BE 18 A1 C0 8F E7 51 04 .P...(........Q. -3568: FC BD B5 86 29 61 2C 8F A2 8A F8 21 47 5D 89 68 ....)a,....!G].h -3584: 4C 22 CA CD E0 F2 50 20 30 34 39 64 11 32 93 8A L"....P.049d.2.. -3600: E0 2B EC 95 D0 BE 1D C8 AD 2C 2E AA D5 AA B8 90 .+.......,...... -3616: B8 18 6F 2A B6 25 A0 C6 30 AE 97 64 C3 31 9D 04 ..o*.%..0..d.1.. -3632: 86 51 59 24 1B 8E C9 21 08 35 4A 7F A2 E1 38 F5 .QY$...!.5J...8. -3648: 9D 3A EE 41 CE 91 A1 7B 09 A3 9B 54 34 DB 73 00 .:.A...{...T4.s. -3664: E4 A6 1C 00 1A 92 EC C4 56 DA FB D1 97 CC C9 8E ........V....... -3680: 92 7C BE 2F D9 81 F2 3C C9 4E 60 18 85 3C DD 70 .|./...<.N`..<.p -3696: 04 F2 D0 30 06 79 BA E1 08 E4 61 A8 31 C8 53 0D ...0.y....a.1.S. -3712: 47 21 EF D6 71 17 72 67 18 DB 84 46 16 CF 93 A8 G!..q.rg...F.... -3728: 9A 72 48 8A 06 CD DE 32 29 35 E5 F8 BD DC 08 99 .rH....2)5...... -3744: 6D F6 36 E4 1C 94 BC F6 2F 82 59 4B 8C 78 F8 C0 m.6...../.YK.x.. -3760: 88 B3 B7 21 F2 CE 07 FF A2 F1 01 85 7F 04 1F 22 ...!..........." -3776: F4 A3 71 40 75 30 82 0F 11 21 E0 75 81 49 22 D9 ..q@u0...!.u.I". -3792: 87 A8 26 E2 3C 74 D5 E1 7C C0 BA 02 C6 CD 70 B1 ..&....0..(.#w. -4080: D6 D3 9D 98 94 B8 CA 30 23 4C 9C 27 EE 10 F3 04 .......0#L.'.... -4096: 93 17 57 19 66 89 7F 18 13 4C 72 5C 65 98 39 FE ..W.f....Lr\e.9. -4112: 71 ED 20 32 E4 2A C3 6C F2 C3 38 E9 48 93 2B 5C q..2.*.l..8.H.+\ -4128: 9A DC 49 D3 62 D2 84 0E B8 18 B2 A5 33 18 35 E8 ..I.b.......3.5. -4144: 6E 95 44 4E B8 46 89 A0 A3 64 EE 12 A9 C8 D5 00 n.DN.F...d...... -4160: 8A 6A 43 3A 0E 23 24 F5 3E C2 BC DA 2E 96 55 BB .jC:.#$.>.....U. -4176: C5 EE A0 74 BC 06 90 FB 4D A8 58 68 94 55 3B C4 ...t....M.Xh.U;. -4192: 56 FB C3 8E 60 33 D0 A7 B7 D9 B9 52 C6 FD 33 6A V...`3.....R..3j -4208: EE 4A FD C6 B0 6A C4 8D 9A 05 6A 95 33 FF 88 5A .J...j....j.3..Z -4224: 61 B5 D0 5D AA D5 96 EE 84 DF 5B 0D A9 D5 62 A7 a..]......[...b. -4240: AD 6A 37 D8 C2 2A 3A 03 28 8B 2D 84 EA 09 0E 2D .j7..*:.(.-....- -4256: A4 19 B8 85 90 E0 B1 B1 5F 63 27 A0 5A 18 B9 8A ........_c'.Z... -4272: 53 0D A5 39 A8 0E 8C F6 A9 4E B7 89 53 1D 1A ED S..9.....N..S... -4288: 53 9D 6E 15 A7 BA 15 DF 1E D5 A9 56 63 54 77 6B S.n........VcTwk -4304: B5 4D B5 B3 FA 90 25 AD 86 08 3E 70 EF 20 C1 63 .M....%...>p...c -4320: CF 14 5B 9A AB 6B 5F 53 CD 9E 0A 4E AA 19 1D 5E ..[..k_S...N...^ -4336: EF 23 5C 6D 23 BC 3B 86 E2 F1 3A F6 15 D6 34 B4 .#\m#.;...:...4. -4352: CA AA CD 83 AB AD 83 C7 30 8A 71 DD BA 56 C6 69 ........0.q..V.i -4368: C5 75 B5 6C 69 04 B3 18 D8 ED 10 53 5B 81 5D AD .u.li......S[.]. -4384: 55 4A 36 8B 93 DD AF D9 92 EC 6A 81 52 61 F6 21 UJ6.......j.Ra.! -4400: 4B 36 0C F5 7B E9 AF 9A 6D 83 56 F3 AC 4C 72 AE K6..{...m.V..Lr. -4416: D7 E5 D1 B8 5D 5E A2 70 42 39 44 6E 3E 3A 9D CE ....]^.pB9Dn>:.. -4432: 7E 71 68 CC 23 94 8E 60 1D C7 14 BB 7C 8C D7 11 ~qh.#..`....|... -4448: 1C C0 81 45 E3 8F 90 9B EC 40 0C DD 28 00 1D 86 ...E.....@..(... -4464: 9D 03 2D 86 29 30 CC DD CE 6E 6E BE B9 22 D8 12 ..-.)0...nn..".. -4480: 61 87 DE 9C 05 89 DD 9C B3 8D BB 72 BF A1 2C 97 a..........r..,. -4496: C7 C2 DA FA 86 05 1D AC 82 7F B7 AF AC 4F 39 AC .............O9. -4512: 75 37 0E B9 FE 76 7B 75 BD 59 FF 63 75 5E 79 F1 u7...v{u.Y.cu^y. -4528: 97 71 14 C1 4A 24 8E 75 E8 08 35 A6 54 C2 71 F5 .q..J$.u..5.T.q. -4544: 34 B1 F7 63 1C 1D 78 9B 9D AB A7 C5 2A 7C C0 DF 4..c..x.....*|.. -4560: 5D BD 4F 43 92 AD DA 9E F6 7B 31 67 25 F3 85 D5 ].OC.....{1g%... -4576: 32 0D 49 B4 DA 22 9E 97 C4 63 35 ED 40 2F 6A BA 2.I.."...c5.@/j. -4592: 4C 43 AC C5 66 9C 4D 6B F7 07 E0 5C DB 72 FB DA LC..f.Mk...\.r.. -4608: 60 59 DD 7C 95 17 51 C9 C9 BA 38 32 5B 2C 83 8A `Y.|..Q...82[,.. -4624: C1 2A 5D 2B E7 9C 99 02 57 E7 94 3B 84 3E F5 B9 .*]+....W..;.>.. -4640: AD 5D 1A 9D 5C 34 28 08 C3 63 78 80 53 1C A9 96 .]..\4(..cx.S... -4656: 1E CF E9 1E C4 88 8E 83 D1 66 5B A2 79 88 5B FC .........f[.y.[. -4672: 0F 99 48 FD 40 24 8C 4D F2 21 0F B5 C0 74 84 C5 ..H.@$.M.!...t.. -4688: 13 6C 25 0C A5 B9 86 35 43 81 28 5E 3D FC 80 C9 .l%....5C.(^=... -4704: 42 71 37 48 36 89 28 1A 47 10 2D 94 7E 8C AF 84 Bq7H6.(.G.-.~... -4720: C0 28 C2 7F B2 D5 08 FD 61 CC FB CC 27 5A 8D 12 .(......a...'Z.. -4736: DF A9 E9 0E E7 8A 3F E0 E9 2D 45 B8 64 FE E9 96 ......?..-E.d... -4752: C7 93 6E 64 64 05 A8 EF 4A 2E F2 A2 4E 0D E1 6B ..ndd...J...N..k -4768: FF 82 35 A9 6B 9F 7A F7 41 F7 80 C6 24 DC 17 5E ..5.k.z.A...$..^ -4784: 95 C7 C6 A9 BE 02 6A 9F 46 D7 00 1E 16 44 0E 63 ......j.F....D.c -4800: B8 80 0B 22 56 33 3D 6D A4 BB 10 53 C7 1E 38 DA ..."V3=m...S..8. -4816: 42 29 5C 88 2B 85 D7 4A D1 2C DC D8 B6 B3 A7 6D B)\.+..J.,.....m -4832: 56 D0 19 D5 62 ED 5F F0 6A 23 D2 18 EC AC 5C 95 V...b._.j#....\. -4848: 55 7A 35 05 F0 85 77 E5 B1 ED 5C 1F FA 96 6F A3 Uz5...w...\...o. -4864: 83 1F 0F 13 02 FF 58 AE E0 02 D8 57 63 3D 11 8C ......X....Wc=.. -4880: E3 4A 4C 08 3F 80 A7 2D 06 86 2F A7 3B A2 33 36 .JL.?..-../.;.36 -4896: 63 A4 96 82 21 66 E8 62 3A 11 DB 0A C5 66 5B 50 c...!f.b:....f[P -4912: 1D 2A 09 06 98 AA 85 56 98 76 98 DB 60 6C 39 8D .*.....V.v..`l9. -4928: 6C 02 57 10 A5 78 4F C6 17 49 68 16 91 45 BA DD l.W..xO..Ih..E.. -4944: 88 22 5A 91 EF 6B 20 D5 6E 14 FF 6E 8D 77 80 67 ."Z..k..n..n.w.g -4960: 91 DD DD A0 3F 20 67 BC 5A 59 A4 28 29 E6 91 60 ....?.g.ZY.()..` -4976: 58 72 B1 9A 57 7F 17 EE EF A3 D3 26 4E 58 AC 83 Xr..W......&NX.. -4992: 50 AE 27 ED 99 C8 2B 09 49 EC DA BF 70 C3 5F CB P.'...+.I...p._. -5008: D5 7C E9 FE CE FD DF A8 56 E0 F7 60 6C A2 E7 EB .|......V..`l... -5024: 24 DA 71 3E 97 C7 A8 CB 88 A6 22 1E 8F AF B1 87 $.q>......"..... -5040: 84 14 13 DF F8 0E 46 C4 F8 B0 3A EF AB 74 6C 07 ......F...:..tl. -5056: A3 AA 7D 30 94 1D 39 3B 07 B1 7D 81 69 6B AF 6A ..}0..9;..}.ik.j -5072: 45 19 1F 3C 81 26 22 6B 63 25 E1 13 8C D1 32 65 E..<.&"kc%....2e -5088: F8 9E 41 5A 57 3C D5 28 6D E8 0A A2 36 EF C9 F8 ..AZW<.(m...6... -5104: EA 0A CD 22 22 4A B7 1B 11 4D 2B F2 7D 6D A4 DA ...""J...M+.}m.. -5120: 8D 6A A1 5B E3 1D E4 9D 5D 74 7F 52 D9 9A 59 53 .j.[....]t.R..YS -5136: 9C 88 C1 CF FC CB C8 23 10 D2 7F 03 6D DE AC 0D .......#....m... -5152: 24 27 F6 64 6D AE 78 AA AC 2D 74 05 99 9A F0 9E $'.dm.x..-t..... -5168: 8C 3F 37 11 9A 45 26 27 D2 ED 46 66 27 5A 91 EF .?7..E&'..Ff'Z.. -5184: 4F 4F A4 DA 8D CE 4F 74 6B BC 33 41 E1 EC F6 98 OO....Otk.3A.... -5200: D7 EE E9 66 11 12 4F A9 0E 07 B7 26 18 93 12 52 ...f..O....&...R -5216: 99 B5 7F A1 F7 8D 49 B9 0F 4E 36 26 55 78 55 1E ......I..N6&UxU. -5232: F5 9E 31 A9 DA A7 F1 F9 45 C3 82 91 3C 82 0B 11 ..1.....E...<... -5248: 94 23 35 D3 87 3A D9 85 28 D5 71 38 3A 7C 3B 17 .#5..:..(.q8:|;. -5264: B0 7D 1B 29 71 0F 7D 72 51 13 2E 95 1A BA 29 A9 .}.)q.}rQ.....). -5280: 62 B1 7B BA CA B5 BC AD 16 8A 78 2A A8 D6 F5 5A b.{.......x*...Z -5296: 46 A1 2B 79 88 7A 25 10 94 BB 15 58 93 4C 55 10 F.+y.z%....X.LU. -5312: 5A 7F EF 3D 32 57 01 A5 E3 AD 7B AB 45 D1 0E 01 Z..=2W....{.E... -5328: 95 BC 92 82 A8 17 08 F9 10 8C 2C 85 6E EC 69 25 ..........,.n.i% -5344: 00 51 2F 11 4A 35 8C 0B 00 A9 F4 12 7B 51 2F 12 .Q/.J5......{Q/. -5360: 72 86 1F 30 6B 21 A8 50 43 F7 9C 53 32 86 BD CD r..0k!.PC..S2... -5376: 3E 3D 27 9E 72 69 75 33 6B D3 C7 DE 95 4F 36 43 >='.riu3k....O6C -5392: 27 AD DA 33 45 07 A5 19 E6 E8 DA 21 C0 B0 AF 42 '..3E......!...B -5408: 30 3A F6 ED D8 F7 B1 4F 36 1C C3 BE 57 E9 1D EC 0:.....O6...W... -5424: 0B C3 D1 0D DA EB EF 43 55 82 AB C1 19 BC D2 11 .......CU....... -5440: EC 19 CD 9E C1 0B B7 C2 CA 36 F9 1C 82 3D 94 4F .........6...=.O -5456: 95 C2 4B 43 F7 A4 F0 AE 34 43 0A DF 0E 01 8A BD ..KC....4C...... -5472: 0F C1 F8 D8 B7 62 8F 60 9F 6A 38 8A 7D B7 D2 BB .....b.`.j8.}... -5488: D8 3B C3 D8 CE 16 6A C6 44 88 BD E6 83 16 D4 C1 .;....j.D....... -5504: 58 2B 31 22 32 45 6D 64 F6 C1 1A 88 00 21 A2 E9 X+1"2Emd.....!.. -5520: BA 23 D8 43 F9 54 A3 35 8A 9A 3D 8B EA 5C 69 86 .#.C.T.5..=..\i. -5536: D1 9A 76 08 50 EC 7D 08 C6 C7 BE 15 7B 04 FB 54 ..v.P.}.....{..T -5552: C3 51 EC BB 95 DE C5 DE 19 46 9F 0F 6B 1E 5F 99 .Q.......F..k._. -5568: 55 DC 37 1A 10 C4 25 FA CB EA 71 FE 49 E0 A5 6B U.7...%...q.I..k -5584: FF 82 B9 47 51 17 FB 38 A6 D3 71 6C D9 BA 3C D2 ...GQ..8..ql..<. -5600: C6 2B 8C 68 4B 73 11 8D C5 25 02 37 CD 05 37 5E .+.hKs...%.7..7^ -5616: 37 28 E7 34 17 E7 51 3E FA C8 47 1E D7 52 33 1E 7(.4..Q>..G..R3. -5632: 8E CB 03 E6 C5 B8 FC 2A EF 77 48 06 94 43 84 DD .......*.wH..C.. -5648: 93 9D F1 7B B4 FB C0 54 1D 51 60 56 D4 CE A0 48 ...{...T.Q`V...H -5664: 8B 2C 3D D1 56 10 30 90 AB 20 8C 0E 72 27 FC 7D .,=.V.0.....r'.} -5680: 7C 93 2D C7 F0 ED 57 7C 07 DA C2 F2 80 FB B4 1D |.-...W|........ -5696: F2 4D 1A C5 86 8A 91 E5 74 86 F1 09 52 74 B8 5C .M......t...Rt.\ -5712: B1 DC 93 A2 BB F2 A9 52 74 00 DD 2E 5F EC B9 B3 .......Rt..._... -5728: DB 2C 29 7A 18 82 88 0A 44 96 14 BD 1D 7B 54 04 .,)z....D....{T. -5744: 22 4B 8A DE AB F4 BE 06 86 E4 2A 92 0C D9 78 C8 "K........*...x. -5760: ED E5 A2 62 6B 23 98 98 20 5F 87 CB E5 AB 17 7B ...bk#..._.....{ -5776: DB 82 C9 66 57 15 23 64 15 CF D7 A1 34 4B 76 13 ...fW.#d....4Kv. -5792: 86 20 A2 01 9E 25 A5 69 C7 1E D5 00 CF 92 C7 F4 .....%.i........ -5808: 2A BD AF 01 3E 44 03 E5 E6 5B F3 E5 72 D9 3C 1D *...>D...[..r.<. -5824: 03 FF C9 0D 70 99 93 C1 0B B7 EA 75 B1 D8 7B 43 ....p......u..{C -5840: 67 30 DC E5 5C 9A 88 E7 32 6F 67 84 06 9E A1 68 g0..\...2og....h -5856: 57 7E E5 A0 1B 8D 4F 84 F4 11 FC 88 C2 1E A9 27 W~....O........' -5872: 14 FC 64 3F F6 B0 1F E7 A5 AF 03 36 44 07 7C E0 ..d?.......6D.|. -5888: D8 8D 34 D1 75 72 76 9A B6 80 2C F7 B7 05 64 C2 ..4.urv...,...d. -5904: B6 60 CF 4A 1B 57 9A AB 2D 20 CB FD 6D 01 C9 D5 .`.J.W..-...m... -5920: 16 90 E5 FE B6 80 E4 6A 0B C8 72 7F 5B 40 A2 1A .......j..r.[@.. -5936: F0 4F B2 63 1A 90 E5 D8 CD 7C BE 98 6C F8 06 2A .O.c.....|..l..* -5952: 95 7B 69 1B 0D 1D 9D A5 DB BA 68 0F CD 66 C2 CC .{i.......h..f.. -5968: 86 12 DF 12 A8 96 63 28 DA 2A 13 DA B1 E8 E0 A0 ......c(.*...... -5984: 9B 5C 49 4F BC 92 30 EC 4D AE 14 68 2F 2B 3D 11 .\IO..0.M..h/+=. -6000: 18 FE 68 11 48 AD D5 D0 B9 2B 4D 62 73 57 62 82 ..h.H....+MbsWb. -6016: 8E 31 B5 4A EF 9B BB 72 E5 53 75 8C 35 63 2A 3E .1.J...r.Su.5c*> -6032: 77 E5 4A B3 74 8C C3 10 60 FA A8 42 30 BA 3E DA w.J.t...`..B0.>. -6048: B1 EF 2B 22 D9 70 4C 11 BD 4A EF 68 A0 30 DC 1B ..+".pL..J.h.0.. -6064: D1 64 FC 88 8A 19 07 01 D4 2B 74 94 20 7A E8 B6 .d.......+t..z.. -6080: EC 32 36 22 A4 B5 CE B6 2D 7B 48 3E E7 72 ED 5F .26"....-{H>.r._ -6096: A8 7A 1B 6E 54 03 DC ED BE B7 98 A6 FD 80 B9 BB .z.nT........... -6112: 62 35 1B 1C 75 ED 15 A2 06 E3 1E 29 59 64 68 3C b5..u......)Ydh< -6128: F0 B8 A0 C2 A8 E2 32 BE 32 22 75 83 68 24 D9 87 ......2.2"u.h$.. -6144: A8 48 E2 7C 74 E5 C2 B9 42 1F BB 37 33 6A 66 BC .H.|t...B..73jf. -6160: 7E C8 52 93 62 E8 68 D0 C2 1E 1D 5B E1 C0 E9 04 ~.R.b.h....[.... -6176: 0B 7B 94 E5 FB D6 F5 28 3B D9 83 F7 46 12 12 5F .{.....(;...F.._ -6192: D6 E3 4A B3 2C EB 09 02 80 29 C1 07 60 74 1D B4 ..J.,....)..`t.. -6208: E2 DE 87 3F D5 6C 0C FD 6E 75 77 78 57 96 63 EB ...?.l..nuwxW.c. -6224: 93 DD CA 06 1E 34 0E 30 48 64 C2 FD AA 27 98 EE .....4.0Hd...'.. -6240: 62 CD AE C2 68 3F 80 89 69 26 BB CC 53 23 A9 AC b...h?..i&..S#.. -6256: 7D A1 46 7B 50 4D FD 05 F1 50 9E 67 B6 2B 88 01 }.F{PM...P.g.+.. -6272: 9A ED 33 91 67 AE AB 15 7B 24 BD 67 22 CF 4C 57 ..3.g...{$.g".LW -6288: B7 CE BB F9 3C 13 F1 45 97 BC 5E 86 63 A0 2F 36 ....<..E..^.c./6 -6304: 74 2B 4D C3 63 F7 66 9D 6B AD 31 2B A1 37 F4 58 t+M.c.f.k.1+.7.X -6320: 50 52 ED B9 48 AD DF D5 D9 54 9B 3A 43 E1 54 C0 PR..H....T.:C.T. -6336: 6B E3 B6 BC 5F C6 78 77 C5 E3 F1 4E 4B B3 9D CB k..._.xw...NK... -6352: 27 7E 03 67 53 ED DF EC 2F 7F 1C D6 19 6A D3 F8 '~.gS.../....j.. -6368: AD 9A 4D B5 53 73 AA CD 16 E7 AC E4 1C A9 66 47 ..M.Ss........fG -6384: B9 A9 F6 64 76 36 23 7B 32 5B F7 4D 31 E5 97 09 ...dv6#{2[.M1... -6400: 14 8C 07 BC 9B C1 5F A8 C4 49 64 EC 92 98 6C 99 ......_..Id...l. -6416: 7B 48 3C 5F 17 07 D6 64 A7 08 F9 7C A2 94 BD 40 {H<_...d...|...@ -6432: 5F AE CB 63 90 30 A3 1A 50 23 E6 EC A1 08 FA 11 _..c.0..P#...... -6448: 41 C4 C0 47 4C D6 D9 5E E3 88 2A F8 88 59 7A 28 A..GL..^..*..Yz( -6464: 0B 9C 85 8E 3C F8 23 E5 01 15 C7 EC D0 6F D5 B3 ....<.#......o.. -6480: 91 EF 7D 97 FE EB C6 96 39 C5 C1 04 AF BF 70 AD ..}.....9.....p. -6496: AF 0A 57 3A CD 68 8E 79 2A 0D 91 B5 27 7D 31 B8 ..W:.h.y*...'}1. -6512: E2 F1 86 73 1A 2D B4 02 D0 13 41 15 80 B1 45 D0 ...s.-....A...E. -6528: B2 DA A3 3F D9 6A 84 FE 5E 65 B7 B0 2F AC 62 79 ...?.j..^e../.by -6544: BA 2E 56 20 93 86 75 AD 87 3E 2E 6E 63 A9 8F D0 ..V...u..>.nc... -6560: B9 66 B1 42 D6 0D AD 67 70 10 D6 CD 44 CB 36 81 .f.B...gp...D.6. -6576: 75 2D 75 33 85 D5 67 1D 8A C7 1B E8 0F 59 0F 02 u-u3..g......Y.. -6592: 80 B0 6E 46 5C 9F C9 70 AB 08 EB 66 C4 15 99 21 ..nF\..p...f...! -6608: EB 9D CA EE B0 6E 28 BA 35 02 2F 6E F0 A6 66 5D .....n(.5./n..f] -6624: 28 3E 74 08 C6 C6 86 60 64 B6 21 98 80 75 A5 9A (>t....`d.!..u.. -6640: E7 8A FA AC 2B 35 D1 83 55 C0 BA D4 B4 19 81 E9 ....+5..U....... -6656: B3 0E C5 E3 0D C1 04 AC 87 01 E8 B3 EE 03 30 3A ..............0: -6672: EB A1 D5 3E EB A9 56 63 AC 77 2B BB CD BA C2 46 ...>..Vc.w+....F -6688: E7 A9 2C 60 37 21 EC AA 78 7E 76 31 08 F6 D8 9E ..,`7!..x~v1.... -6704: 08 92 4D 00 BB D1 30 51 1D 85 1D 4A 27 83 1D 30 ..M...0Q...J'..0 -6720: 5B EE 81 9D BB A7 A9 33 C0 1E 06 A0 0F BB 0F C0 [......3........ -6736: E8 B0 87 56 FB B0 A7 5A 8D C1 DE AD EC 36 EC CE ...V...Z.....6.. -6752: 2A 36 7E 23 DC 16 56 F5 06 86 9A 68 3D B4 3F AB *6~#..V....h=.?. -6768: 88 A4 B1 AD 3E F5 04 FD D9 62 7E BA 3C EE EB D1 ....>....b~.<... -6784: 96 F3 E3 13 75 69 25 74 F3 D7 E5 71 6F 97 D6 95 ....ui%t...qo... -6800: 67 E9 D2 E2 41 E9 4B A1 0A CA E8 5A 40 ED F7 45 g...A.K....Z@..E -6816: 91 6C 3F A6 8A 28 14 6D 79 58 83 EF EF 29 DD 76 .l?..(.myX...).v -6832: E6 B4 1A 8B D7 94 D9 22 EF A9 56 28 64 EF 87 72 ......."..V(d..r -6848: 68 41 9A 71 E8 1E CC AE 78 AA 8E A8 7B BA 6C DF hA.q....x...{.l. -6864: 50 BC 2B CF D1 13 6D 87 A0 87 6E 15 82 B1 C9 6D P.+...m...n....m -6880: 9B ED 11 9B 6C 36 02 6C BF C2 5B A0 16 66 B1 39 ....l6.l..[..f.9 -6896: 52 B7 E9 47 F0 90 14 9C DE CA 81 19 BA FB 5E B8 R..G..........^. -6912: 48 D2 62 73 27 2D E4 29 28 CC 36 49 1B F7 C0 93 H.bs'-.)(.6I.... -6928: 66 0D 1A B7 53 65 2D 2D 57 FA C0 57 AE 8C 0B 7C f...Se--W..W...| -6944: 3B 02 D6 7A DC 49 B3 CC 2C D9 2A C2 3B E9 5D 6C ;..z.I..,.*.;.]l -6960: 89 3B 69 96 95 25 9A 45 79 47 AA BB C0 9D 34 CB .;i..%.EyG....4. -6976: C8 B8 45 37 2E 33 05 EE BA C6 9D 0B 33 70 8F 1B ..E7.3......3p.. -6992: 49 62 1D 52 45 73 CF 3B C1 F5 2B D3 6C 2B 83 E0 Ib.REs.;..+.l+.. -7008: 0E C5 53 4D 3D B5 5C 41 70 F7 AE 8C 8E 7B 60 16 ..SM=.\Ap....{`. -7024: C1 3D DD 2A 8E 7B E7 62 BB B8 A7 9A 8D E1 DE AD .=.*.{.b........ -7040: EE 0E EE CE 6C 1F 77 E3 FA A4 EE DB AC 03 DE 8B ....l.w......... -7056: EF 55 59 0E E2 3D D6 27 55 6C 0A DE A5 5C EC E3 .UY..=.'Ul...\.. -7072: 5D CA E9 78 0F 5C C1 78 97 32 0F EF 8D 59 8C 77 ]..x.\.x.2...Y.w -7088: 29 F3 F0 DE BE D8 1E EF 52 E6 E1 BD 53 DD 5D DE ).......R...S.]. -7104: 25 F6 65 86 B6 58 21 C9 43 DE 25 D7 03 D7 15 48 %.e..X!.C.%....H -7120: 1A 5B 19 AC C4 04 BC C3 78 E7 6A 0F EF C2 EA C9 .[......x.j..... -7136: 78 0F 5D 41 78 F7 AE 8C CE 7B 60 16 E1 3D DD 2A x.]Ax....{`..=.* -7152: CE 7B E7 62 BB BC A7 9A 8D F1 DE AD EE 0E EF 02 .{.b............ -7168: DD C4 49 1C B9 45 34 3C 48 DF 45 39 0E 33 28 7D ..I..E4 -7344: FF 95 47 63 F3 8F C4 A3 2F 83 11 8C A3 32 C0 2A ..Gc..../....2.* -7360: A3 AF 86 64 EB 11 35 C4 50 68 8B C2 59 47 87 2C ...d..5.Ph..YG., -7376: 59 B1 A8 A0 D1 04 95 74 68 9F 96 46 BE B0 5C 6A Y......th..F..\j -7392: 92 3F C7 37 86 EF E9 D2 9A 62 6A 63 9A D5 F2 81 .?.7.....bjc.... -7408: 23 C8 5A F9 D2 91 B1 F9 0F 8C F6 B9 4F B7 89 62 #.Z.........O..b -7424: DF B9 D0 0E EE A9 46 23 B4 77 AB B9 4D B9 41 67 ......F#.w..M.Ag -7440: 90 FA AB 09 60 AE BB C8 74 56 E5 CF 34 13 49 E4 ....`...tV..4.I. -7456: A9 52 74 5D 1C DC A3 BB F3 F2 27 46 2C 7C 76 AA .Rt]......'F,|v. -7472: 49 25 E7 56 71 E8 B9 D5 E7 D7 BB 35 36 BF D1 C8 I%.Vq......56... -7488: F4 69 4E F7 00 A5 39 5E 37 7D B6 53 5D 88 B0 BD .iN...9^7}.S]... -7504: 1F 8F 36 E9 CE 05 F4 7E 4E 67 8C 86 A4 2B 21 07 ..6....~Ng...+!. -7520: 3E CD 2D 69 6C 4C 5E D3 E7 D9 B5 C2 4D B3 09 6F >.-ilL^.....M..o -7536: 5F 1D DC D8 A9 D4 11 3A D2 D7 83 77 64 6C 3D 04 _......:...wdl=. -7552: 46 FB 0A 48 B7 89 2A A0 73 A1 1D E6 53 8D 46 98 F..H..*.s...S.F. -7568: EF 56 73 9B 72 67 14 BD 9F EB 19 0F 97 42 2A 26 .Vs.rg.......B*& -7584: 74 40 F9 E7 ED CD F5 C5 A7 F5 E6 8F 9B EB CD DD t@.............. -7600: FA 62 7B CA 29 A7 E6 79 FB ED 2F 37 D7 A7 54 C1 .b{.)..y../7..T. -7616: 38 4D E7 ED CD FD A9 82 4A AE DE FE BC D9 56 67 8M......J.....Vg -7632: 21 DD F7 DC 29 FA 6F C2 09 9A C1 CE 1F 0B 8D 52 !...).o........R -7648: 81 3E 3D 0E DD 76 E1 3B CF A3 83 8E 8B 8F 96 E2 .>=..v.;........ -7664: 3B A6 16 FA 50 B2 E6 4F 96 E2 83 B7 AB 6F E9 A5 ;...P..O.....o.. -7680: 32 AF F8 BC 0E 8E 29 51 A1 27 C6 7A F5 C1 FB D5 2.....)Q.'.z.... -7696: 97 F3 96 AE 7C FF 76 77 7F BB B9 B8 76 95 B0 49 ....|.vw....v..I -7712: 55 61 F9 93 E7 22 2D 72 91 B6 73 8D 85 F0 5C B4 Ua..."-r..s...\. -7728: FD 37 EF 66 70 A4 25 46 5A 8A 11 A9 76 27 C6 A2 .7.fp.%FZ...v'.. -7744: DA CB EF DF A5 12 9F 16 23 45 72 55 AF CF 51 09 ........#ErU..Q. -7760: D3 C0 2C 36 4D A0 AB 69 82 A9 95 C0 9A 6F 1C E9 ..,6M..i.....o.. -7776: 2B 81 D1 CC 13 C3 A1 12 02 4F 10 25 78 57 32 28 +........O.%xW2( -7792: 21 CF 45 E2 4A 68 5F 63 47 09 39 1C 89 29 A1 53 !.E.Jh_cG.9..).S -7808: ED 6D 25 38 47 D0 01 26 5E 6C 92 5C 77 A6 35 B4 .m%8G..&^l.\w.5. -7824: A3 41 67 BA D7 2C 01 7E 9C 21 CD 92 00 CA B0 66 .Ag..,.~.!.....f -7840: 89 0B 89 34 4B 30 DC C5 AC C2 DA 26 4A 35 91 58 ...4K0.....&J5.X -7856: FB C4 2C 0D F6 6C FB B1 32 55 F1 FC 2F D2 46 19 ..,..l..2U../.F. -7872: 4B FD 9E B7 13 2B 93 C1 30 20 A1 75 9F D7 AF C9 K....+..0..u.... -7888: 83 B7 EB 41 5F B7 99 F6 34 D2 D4 E0 8A AE 5C A9 ...A_...4.....\. -7904: F7 71 80 F7 EA 51 5F A2 33 69 93 92 2C 53 F5 88 .q...Q_.3i..,S.. -7920: 38 8B 80 87 57 59 8A 93 35 A3 BD 44 4F A3 CE 7E 8...WY..5..DO..~ -7936: D5 17 EA 64 CD 00 70 6C 0F 73 E1 47 01 DE AE 0E ...d..pl.s.G.... -7952: A0 A9 29 DB A8 FF 07 48 24 01 D7 D7 FF 00 00 1F ..)....H$....... -7968: 8B 08 04 00 00 00 00 00 FF 06 00 42 43 02 00 C6 ...........BC... -7984: 02 8D 96 CB 6A 5B 31 10 86 D7 CE B3 88 76 EE 17 ....j[1......v.. -8000: ED 4C 02 5E 15 52 9A C7 E9 C3 77 24 9D 14 07 7A .L.^.R....w$...z -8016: 8E 4A 40 CE 42 9F E7 A2 7F FE F1 ED DB 6D FC 3D .J@.B........m.= -8032: 3E FA E3 67 BF BF F5 B7 F7 1B 7E C7 9E D1 A9 21 >..g......~....! -8048: 68 50 1F A7 BC FC F8 B8 91 71 DD BC DF 1E B7 53 hP.......q.....S -8064: 06 9A 1B 45 1F C7 20 18 68 12 F7 D7 33 C4 BB 40 ...E....h...3..@ -8080: 63 49 EB AC 6C 93 41 A8 8B 1F B7 8F 0B 06 A1 20 cI..l.A......... -8096: 13 EA EC 42 CF D0 BF 18 28 86 EA AA 49 B6 E4 BF ...B....(...I... -8112: 88 72 4E E4 7E 8E 18 A2 36 4A E8 26 A0 93 49 BB .rN.~...6J.&..I. -8128: 64 70 94 9E D0 D0 A0 7B 28 0C C6 40 77 71 34 D1 dp.....{(..@wq4. -8144: 1A 56 39 75 77 F6 CD 8E 72 CE 18 2E 24 06 C2 95 .V9uw...r...$... -8160: 23 E5 42 AE 53 AB 22 D0 A3 45 11 64 38 08 57 D8 #.B.S."..E.d8.W. -8176: 3D 27 36 8F 51 53 E0 8C 51 F1 62 87 50 AB 62 A2 ='6.QS..Q.b.P.b. -8192: 27 FA AC 9E 50 70 3D E7 FD 71 D6 00 18 29 41 23 '...Pp=..q...)A# -8208: AB CF 98 1A 20 D2 F1 38 AF C5 9D 06 E2 E6 4A DA .......8......J. -8224: EB 88 25 4E 19 7D 7E 5C F5 39 51 B3 C4 56 9F C9 ..%N.}~\.9Q..V.. -8240: 53 35 EA 34 93 7B 9C 33 4E EA CD 78 34 21 F5 0B S5.4.{.3N..x4!.. -8256: 74 1A 08 2B 29 D7 C6 04 CF 90 CF CE 5D 08 D4 15 t..+).......]... -8272: B3 C9 50 4E 7A 1E 50 EC A4 E3 AC D4 D4 B2 20 C2 ..PNz.P......... -8288: 2F D0 55 4D A5 AF C6 88 4F 50 F0 36 3D 17 6B 0C /.UM....OP.6=.k. -8304: DC 03 E4 48 2F 61 3B 41 51 1D 77 AF F4 AA 85 07 ...H/a;AQ.w..... -8320: C4 97 E9 55 52 21 D2 A8 9E 29 C0 3F 19 BD CE 6E ...UR!...).?...n -8336: 54 A2 D1 50 2B 3B C4 A3 A4 DC CE B7 0B 44 53 28 T..P+;.......DS( -8352: 11 25 2E 41 FC CF B0 B2 63 23 97 AE A5 B8 05 A1 .%.A....c#...... -8368: 5C 43 D0 55 95 1B B2 15 14 AB 79 C6 B8 85 2A BF \C.U......y...*. -8384: 59 93 C6 A1 57 63 BE F6 1F AC BB 94 0D B1 D2 4B Y...Wc.........K -8400: 99 90 08 CB AE E3 8E 58 9E E5 D5 FA D5 71 91 C4 .......X.....q.. -8416: CB 61 AA EF 37 C8 72 A0 61 92 B0 18 17 3D 33 87 .a..7.r.a....=3. -8432: FE FE EB 86 BF 6B 6C A5 36 84 90 6A 5F 87 AF 0E .....kl.6..j_... -8448: 4A 99 E6 16 B5 81 96 21 F7 75 1C A8 29 C6 A9 53 J......!.u..)..S -8464: 1C DA 48 31 69 02 3D 15 E6 1E 73 66 3F AD 6E BA ..H1i.=...sf?.n. -8480: 0B 97 8D 45 0C 35 85 CE 30 51 2E 7B 2D C1 39 B6 ...E.5..0Q.{-.9. -8496: 25 0C A0 92 A0 CF CE 47 D8 C6 61 69 D4 94 11 7D %......G..ai...} -8512: 1C D3 61 99 69 F9 F8 EB C6 62 EB 3F 34 5E 8C 05 ..a.i....b.?4^.. -8528: EC DC 92 B4 95 06 4B 7F 1A F8 15 3A F5 89 71 B9 ......K....:..q. -8544: BC 8F E4 09 2A B7 DD 99 8B 38 4A B3 F1 42 CB C5 ....*....8J..B.. -8560: 0A B2 3D A4 50 AA 0D E8 72 CC C7 A0 B6 3E 26 46 ..=.P...r....>&F -8576: 35 55 53 48 1E 9F 54 EE A9 90 B6 34 94 C7 5A 0B 5USH..T....4..Z. -8592: C6 6B 41 D4 2A F4 52 04 65 29 42 EC 2B 74 26 09 .kA.*.R.e)B.+t&. -8608: 85 BA CC F5 2B 4A 9E A1 B9 3C 2E 9F 4A 9B 99 D5 ....+J...<..J... -8624: 5C 99 F9 62 72 4A FC 71 B5 70 4C BD 16 28 7B 19 \..brJ.q.pL..({. -8640: 2E 2C 4A 97 90 76 EB DD A4 A6 DE 64 75 CF 80 F8 .,J..v.....du... -8656: 32 92 52 09 C9 A9 99 97 69 26 B9 BF FC 01 C9 8B 2.R.....i&...... -8672: 25 D6 3F 0A 00 00 1F 8B 08 04 00 00 00 00 00 FF %.?............. -8688: 06 00 42 43 02 00 1B 00 03 00 00 00 00 00 00 00 ..BC............ -8704: 00 00 .. +0016: E8 1E CD 9D 59 73 DB 48 92 C7 9F 35 9F 42 E1 8E ....Ys.H...5.B.. +0032: 98 79 B0 24 D7 7D D0 2B 6F 70 28 37 DB B1 BE 46 .y.$.}.+op(7...F +0048: E2 F4 EC 3E 31 38 32 6D 33 C6 A2 BC 92 DC DB BD ...>182m3....... +0064: C1 0F 3F 59 85 AB 00 64 81 A2 0A A0 E4 8E 36 68 ..?Y...d......6h +0080: 16 89 4C 64 FD FE A8 AC 03 C5 9F 7E FA BC FA B6 ..Ld.......~.... +0096: FC 7C 7D 73 B5 B8 3B FD 75 F2 F3 6F E2 44 FC E9 .|}s..;.u..o.D.. +0112: A7 9F DE BC FF F9 C3 E9 7F BC 39 3B FD B2 BE BE ..........9;.... +0128: 5A 7C 9A 2F 7F BF BE 5A DE CE 17 EB A3 F7 3F AE Z|./...Z......?. +0144: FE B9 BC 39 A5 47 B3 3F BE 2F 4F DF AC EF 96 5F ...9.G.?./O...._ +0160: 96 37 47 67 CB DB CB 9B D5 F7 BB D5 F5 FA F4 59 .7Gg...........Y +0176: F6 91 C3 EB CF 87 8B 6F DF 96 DF 96 B7 87 AB F5 .......o........ +0192: A1 3B D1 F8 EC 30 3B D1 B3 57 71 1B 5F AF AF 76 .;...0;..Wq._..v +0208: 33 02 5F 38 01 4B 77 27 87 97 8B 9B 9B D5 F2 66 3._8.Kw'.......f +0224: 47 7B CB BB 1D ED 2D EF D2 EC 5D AD 76 35 78 B5 G{....-...].v5x. +0240: 7A 90 C5 2F CB 75 4F D5 96 9F A9 D3 4A BF 15 77 z../.uO.....J..w +0256: 2F 8B BD 56 DD FD 2C F6 5B 79 A8 CD AF CB 6F AB /..V..,.[y....o. +0272: DF 53 2A ED 17 77 82 77 77 67 FF C4 CE DB 53 35 .S*..w.wwg....S5 +0288: 75 DB E8 A7 62 22 36 C6 EF DF 17 67 3F C9 CE 7E u...b"6....g?..~ +0304: 71 77 B3 5A 7F A9 9F FC E7 1F EB 4B F7 6A F1 ED qw.Z.......K.j.. +0320: 70 B1 5E 5F DF 2D DC 3F 6E 47 87 7F 19 FB 40 1D p.^_.-.?nG....@. +0336: 6E 0E C7 E5 DB B5 7F CC DF 5C 7D 5F 5C DE C1 7B n........\}_\..{ +0352: D3 E5 7A 39 7F BF B8 5A 16 AF DF 9C C1 AB 9F 97 ..z9...Z........ +0368: 8B BB 1F 37 CB B9 B3 1C FC D3 97 CD 6E 16 EB CC ...7........n... +0384: 87 F9 5F 57 D7 F9 27 CE 17 EB 7F C1 E1 97 E9 AF .._W..'......... +0400: 17 27 97 C5 8B EF F0 E2 F2 EC FD F8 E4 FB F5 ED .'.............. +0416: E1 8B EC E5 B7 E5 FA CB DD 57 28 98 9C 5D E4 EF .........W(..].. +0432: BB 57 E5 DB E3 E2 D3 E3 E0 B3 67 AB DB BB C5 FA .W........g..... +0448: D2 19 7A 7D 7E FE E1 FC 02 CA FF 31 3E 7F FF E6 ..z}~......1>... +0464: FD D4 BD 74 51 FB 8B 8F DF CF 6F DE CE 5E 9F FB ...tQ.....o..^.. +0480: 08 7E 1C 5F 5C D4 A3 05 41 39 84 96 E0 CE 45 FE .~._\...A9....E. +0496: FB E2 F6 76 F9 29 FB CE 87 F3 77 E3 59 16 F5 B3 ...v.)....w.Y... +0512: 22 E8 E7 1D 55 7A BE 5C 7C 3A FC B4 FC 0E AE 41 "...Uz.\|:.....A +0528: A3 72 B8 5C 5C 7E CD C9 6C 9E EF EC E3 7D 10 A9 .r.\\~..l....}.. +0544: CE D7 FC FE F4 6F F7 F9 FE E4 7A FD 69 95 63 E0 .....o....z.i.c. +0560: C4 76 E7 AA E4 7F 7F 2C BE AD EE FE 68 9D 71 D6 .v.....,....h.q. +0576: 38 23 86 D5 34 3F 49 F3 CB 1F 2F EE E3 CE C7 AF 8#..4?I.../..... +0592: 8B DB E5 E1 ED F2 CE 7F FD F2 7A 7D B7 FA E2 BF ..........z}.... +0608: 4E 8F B2 0A 3D 65 C2 32 49 14 A3 47 AE 16 AE FE N...=e.2I..G.... +0624: F9 ED 0F B0 79 3E F9 CA F5 B3 A3 DB EF CB CB D5 ....y>.......... +0640: F2 F6 F4 D9 2F D7 57 D7 87 B7 8B EF AB E5 FA B6 ..../.W......... +0656: 79 26 56 9D 89 53 6B B9 E6 0F 3D 13 2F CE 44 AD y&V..Sk...=./.D. +0672: 21 0C 4E 47 1E 7A 26 51 9D 89 52 29 98 56 0F 3D !.NG.z&Q..R).V.= +0688: 93 2C CF 64 88 A5 92 A9 07 FB A4 CA 33 69 0A 4E .,.d........3i.N +0704: 11 A5 1F 7A 26 5D 9E 49 5A CA 8D 52 0F 8E B8 29 ...z&].IZ..R...) +0720: CF 24 14 57 02 82 FE D0 33 D9 EA 4C 94 51 0E 28 .$.W....3..L.Q.( +0736: 3C F4 4C 94 94 A7 E2 52 72 A1 C5 83 03 45 69 70 <.L....Rr....Eip +0752: 2A 42 94 A4 0F E6 80 B2 EA 54 DC 48 6A AC 7C F0 *B.......T.Hj.|. +0768: A9 2A CE 29 78 64 8D 36 0F 3E 55 05 3A D1 5C 58 .*.)xd.6.>U.:.\X +0784: 29 1E 8C 27 AD 48 27 4C 72 CA ED 83 59 A0 25 EA )..'.H'Lr...Y.%. +0800: 96 70 29 B4 7C 30 9F B4 44 DD 50 6A 25 A3 0F BF .p).|0..D.Pj%... +0816: BC 12 75 6D 88 D6 4C 3C 3C E6 25 EA A0 3E 66 AC ..um..L<<.%..>f. +0832: 79 F0 D5 B1 92 74 C5 21 E6 92 3D F8 EA 58 09 BA y....t.!..=..X.. +0848: 30 94 D9 04 38 59 C9 B9 A4 9C 08 A9 1E AC 98 FF 0...8Y.......... +0864: AE EE 52 92 69 22 1F 7E E7 FC 9F 2A E0 D0 BA 24 ..R.i".~...*...$ +0880: B8 F4 6E 56 FA A4 A4 B2 3B 9D C6 75 5B CF 16 77 ..nV....;..u[..w +0896: 4B A8 35 06 81 61 14 DE BB 18 BF FB F8 F6 B5 3F K.5..a.........? +0912: F5 FB 31 B0 00 42 BE 58 FE 0E A9 E0 F2 6A 01 09 ..1..B.X.....j.. +0928: C8 11 A4 4A 4B 68 7F 21 DB F9 FC 79 79 79 97 E7 ...JKh.!...yyy.. +0944: 38 1F 5F 9F BD 99 9E BF AE 7D CF BD FF FB F1 6F 8._......}.....o +0960: 8B 9B CF AB DB AF C7 97 F0 A5 E3 1F 3F 56 9F 4E ............?V.N +0976: 49 FE E7 18 F9 AB F8 53 FB EA 6F 90 50 B9 96 DF I......S..o.P... +0992: 9D BB 78 EF 76 79 03 6F 1F FF DF F5 CD BF 20 3F ..x.vy.o.......? +1008: F8 35 FF C4 B3 DF 4F FE 38 F9 FF 67 AF A2 5F BF .5....O.8..g.._. +1024: BE 59 7D 01 57 20 99 BA 39 72 49 E9 E9 B3 B3 9B .Y}.W...9rI..... +1040: 05 E4 34 CF AA 53 5C FC 63 74 48 F4 09 61 F4 44 ..4..S\.ctH..a.D +1056: 31 71 C2 4F 28 39 11 47 87 BF D4 DE 76 26 26 BF 1q.O(9.G....v&&. +1072: 9C 7F 78 77 F0 F1 C3 C5 C1 9B B3 83 F3 D7 3F 1F ..xw..........?. +1088: 8C DF CE 0E FE F6 F7 F1 DB 83 2C 4B 3C 70 69 E3 ..........,K..}. +1216: 7F FA D7 E5 7A F5 65 FD 12 3A 18 A7 93 CD D5 0A ....z.e..:...... +1232: 70 5C DF 2E E7 F0 8D D5 62 7D B7 79 F7 E1 EC F5 p\......b}.y.... +1248: F9 78 F6 7A F3 D7 F3 C9 98 6E 7E 99 BE 9F 8C 28 .x.z.....n~....( +1264: 25 64 73 57 66 FD 9B F7 EF E6 84 68 66 61 18 65 %dsWf......hfa.e +1280: 33 B9 FE 04 E9 E3 9F DF 2D D6 CB 0B 48 80 2F EF 3.......-...H./. +1296: 36 94 BC 60 7C 73 79 02 77 61 33 7E 35 DD 7C 3F 6..`|sy.wa3~5.|? +1312: F9 2F 4A 0D 3F DF 70 A5 E8 0B 4D 8C D9 B8 A2 17 ./J.?.p...M..... +1328: 52 5A B6 71 25 2F A8 51 62 43 36 47 89 EE E8 D2 RZ.q%/.QbC6G.... +1344: 9D 8D 7D C1 98 73 41 10 5D BA C0 95 73 81 38 17 ..}..sA.]...s.8. +1360: 18 B8 00 45 2F A4 90 74 E3 4A C0 05 AA 33 17 56 ...E/..t.J...3.V +1376: EB BB 1B E8 1F 05 0E BC F9 F9 CD EB F3 FB 38 60 ..............8` +1392: 4E 78 E0 00 05 07 B4 31 C7 56 D2 CC 87 FF DC 40 Nx.....1.V.....@ +1408: 2B F0 82 2B C3 36 F0 3E 78 68 C8 66 03 A5 89 56 +..+.6.>xh.f...V +1424: 6D 75 D9 2E F4 98 59 2B C1 AC 55 99 59 77 9A C2 mu....Y+..U.Yw.. +1440: 6C 42 BC 39 21 75 C3 22 5E E7 90 72 E4 75 AE A4 lB.9!u."^..r.u.. +1456: 2C EA DC 48 08 F8 C1 74 36 1A 9F 8D CE 3E 8E A6 ,..H...t6....>.. +1472: 7F 3B 20 2F E8 C8 1C 51 33 62 6A 24 78 29 45 C1 .;./...Q3bj$x)E. +1488: E5 16 29 72 86 4A 91 48 4C 8A 82 4A 54 8A 94 70 ..)r.J.HL..JT..p +1504: 86 4B 91 0A 89 4B 91 72 1D 93 A2 7C 52 52 04 C6 .K...K.r...|RR.. +1520: B3 6A 79 0D 57 69 A6 1B CE 98 CA A5 08 45 B9 14 .jy.Wi.......E.. +1536: A1 64 38 29 C2 7B 2C 77 C1 5A 0A 1E 50 A5 32 25 .d8).{,w.Z..P.2% +1552: BA 92 4C 89 50 30 A4 10 5D B7 A5 43 89 AE 78 18 ..L.P0..]..C..x. +1568: 29 D6 0C B7 B5 58 18 EE 5D 8C 78 AD 7B 31 FA 5A )....X..].x.{1.Z +1584: F7 62 CC 6A 1D 17 23 74 40 A8 F0 6A D4 A5 1A 2D .b.j..#t@..j...- +1600: 57 A0 C2 E9 C1 38 AA 46 26 10 35 0A 68 5D 31 35 W....8.F&.5.h]15 +1616: 4A 2B 62 6A 44 1B 46 C6 34 37 B8 1A 21 2D 8E A9 J+bjD.F.47..!-.. +1632: 91 9D 18 B3 8B 1A C7 43 AA 91 29 CA 26 AF 66 50 .......C..).&.fP +1648: 2F 1F 8D A6 6F 37 4C 33 99 89 D1 95 64 62 84 82 /...o7L3....db.. +1664: 52 8B E3 DE B5 28 34 2D 1C 60 02 1C 50 4A E6 5A R....(4-.`..PJ.Z +1680: 84 92 4C 8B 50 50 6A 71 DC B7 16 F5 73 6A 98 CC ..L.PPjq....sj.. +1696: 5C 70 5A 54 85 16 75 AE C5 63 57 9E 68 18 15 63 \pZT..u..cW.h..c +1712: C3 B2 15 85 18 75 2E C6 D2 72 DF 6A C4 6B DD 89 .....u...r.j.k.. +1728: 31 AB 75 27 C6 AC D6 23 5A D4 47 94 8F 38 09 B4 1.u'...#Z.G..8.. +1744: 28 19 D7 A0 C1 31 A8 31 A6 45 8A 69 91 C2 F0 1B (....1.1.E.i.... +1760: DE 32 AA 48 92 2A 14 DE 32 12 A9 71 2D 12 85 25 .2.H.*..2..q-..% +1776: A9 14 3A 9C 52 9C 18 BE 8B 16 A7 9B DB 3F D6 D7 ..:.R........?.. +1792: EB 3F AE AE 7F DC 96 95 F1 F6 C3 3F 7A 10 22 DC .?.........?z.". +1808: 06 67 AF 26 50 25 6F B5 A6 A7 40 3F 40 9F 09 11 .g.&P%o...@?@... +1824: 4A 32 21 EA 40 88 29 9E 20 2A A4 9A 14 D6 99 00 J2!.@.)..*...... +1840: EB 30 18 96 AB 10 4A 32 15 EA 40 85 D3 01 54 28 .0....J2..@...T( +1856: 99 C8 5C 88 A8 10 CA 13 0D C7 54 18 5A C6 54 98 ..\.......T.Z.T. +1872: 5B 7E 68 C0 71 09 A2 F5 ED 25 E8 EB DB 49 50 77 [~h.q....%...IPw +1888: 49 10 92 53 3A 62 76 24 54 29 41 A1 B6 35 87 55 I..S:bv$T)A..5.U +1904: 73 15 4A 50 11 86 F7 13 2D DE 1C C2 65 46 FA 89 s.JP....-...eF.. +1920: 8C C4 FA 89 3A 22 41 AE 4E 8C D8 AD 39 1C 4C 82 ....:"A.N...9.L. +1936: C4 E4 77 C5 0B 65 9D 08 60 C4 2D 97 20 94 64 12 ..w..e..`.-...d. +1952: 84 82 A0 2D EC 53 82 D4 0A 5A 58 17 DA 59 E7 79 ...-.S...ZX..Y.y +1968: 43 E8 4A 32 09 42 C1 A0 0D 21 B3 DD 0D 21 94 0F C.J2.B...!...!.. +1984: D4 10 86 96 31 09 E6 96 FB 95 20 5A DF 5E 82 BE ....1......Z.^.. +2000: BE 9D 04 B3 FA 8E 48 90 1E 99 11 05 05 96 23 35 ......H.......#5 +2016: 9A 32 E6 1B C1 F1 64 32 F3 22 C4 A0 87 4F C9 13 .2....d2."...O.. +2032: B9 13 F3 70 BA 94 A8 E3 DC E7 E0 29 4D 8F 99 50 ...p.......)M..P +2048: F3 EC 28 57 EB DB F1 34 EB 1F 68 93 37 41 4A E7 ..(W...4..h.7AJ. +2064: 2D 10 DC A6 A0 7B 90 EA 4E 00 BF C9 18 90 9C 78 -....{..N......x +2080: 1F B2 63 CD 07 96 37 44 50 94 89 A0 1F 1F 02 05 ..c...7DP....... +2096: E4 3E C4 E3 A0 2C C9 B4 E0 E2 90 69 A1 17 1F 6C .>...,.....i...l +2112: ED 26 D0 ED 83 D6 26 53 85 F7 C1 AB A2 07 1F 6A .&....&S.......j +2128: BA B0 D9 6D 70 0B 0F 4E 1F 9E 07 27 0F EF 43 47 ...mp..N...'..CG +2144: DB 24 4B 65 28 22 BC 32 26 11 59 30 48 EC 84 DE .$Ke(".2&.Y0H... +2160: 4D 16 93 01 35 41 9E 33 69 67 AF 8A 0B E7 85 10 M...5A.3ig...... +2176: 48 2E 84 63 28 4E EC A1 23 32 60 B6 66 96 F1 9C H..c(N..#2`.f... +2192: 7D 66 73 F6 7B 30 8B 91 5F BB 5A 65 6C 81 3B 29 }fs.{0.._.Zel.;) +2208: 6E FD E9 66 31 D8 EB 41 D6 BA 20 9C 14 F7 FD 54 n..f1..A.......T +2224: B3 38 DF ED BA CD A0 26 39 D4 DE 2C 3A 00 01 54 .8.....&9..,:..T +2240: F3 A0 D3 63 20 E5 01 9A 27 07 B3 2E AA E1 CA 77 ...c....'......w +2256: A1 7A 80 3B BD C9 A8 86 F1 8D 63 C6 E4 F4 D5 38 .z.;......c....8 +2272: BB 72 18 77 F2 54 C3 FB C5 ED DD F5 37 FB BA B7 .r.w.T......7... +2288: EB AC 9A 85 E4 A1 55 97 C3 78 A8 E1 FD E2 86 9E ......U..x...... +2304: 6C 35 60 3A B7 DA B8 56 05 63 4C 9E 69 77 AD F9 l5`:...V.cL.iw.. +2320: 2D 3C D9 AA 6D 0B B8 19 61 9A 21 ED AD 66 37 ED -<..m...a.!..f7. +2336: 44 AB 35 A2 4D 46 34 56 AF 8E 68 5F AF D9 6D 1A D.5.MF4V..h_..m. +2352: AC B6 81 16 47 7A C4 E8 48 88 92 67 6E B9 E7 79 ....Gz..H..gn..y +2368: 32 2E FF 78 B2 FD DD B6 7A 6F 50 42 85 94 F3 EC 2..x....zoPB.... +2384: 28 A0 ED 99 95 7F 62 CC C2 E7 E1 1E D1 8F 73 38 (.....b.......s8 +2400: BD CE A3 EC 88 78 84 F0 DC A7 47 38 D9 9D 31 42 .....x....G8..1B +2416: 58 EF D3 23 9C FA 2D B5 D6 D2 41 7F 1E C5 14 B1 X..#..-...A..... +2432: 9D A3 BA 46 9C 47 2D 8D 58 90 08 55 41 8A 6F E0 ...F.G-.X..UA.o. +2448: 3F DF C9 EE 4A 64 24 D9 ED 96 3F 19 54 50 00 E5 ?...Jd$...?.TP.. +2464: A4 68 EC DA F2 81 D2 FE F2 98 40 34 81 55 44 22 .h........@4.UD" +2480: E9 56 71 61 84 56 DB 32 48 B7 8A C3 5F 8B 70 0B .Vqa.V.2H..._.p. +2496: F5 54 AB 31 C0 9B F5 5A C7 D9 59 C5 BA AC 76 C4 .T.1...Z..Y...v. +2512: 48 C8 B3 34 C6 DD F2 8B CC 7C 78 1C 95 24 9F 96 H..4.....|x..$.. +2528: DF A2 B7 73 28 1E 84 C7 D0 2C 02 64 BA 59 1C C8 ...s(....,.d.Y.. +2544: 9A D9 36 91 E9 66 71 22 EB 41 6E 21 99 6A 36 86 ..6..fq".An!.j6. +2560: 64 AB 6E EB 4C 3A B3 C8 2D 96 12 3F 8C C2 0A 26 d.n.L:..-..?...& +2576: 2D DC 42 B7 CC 25 E0 B3 EC D1 81 4C 8E 0C 64 A2 -.B..%.....L..d. +2592: 63 98 E8 F8 25 79 19 B9 CD D3 DD FA AB D3 01 75 c...%y.........u +2608: C5 9F 53 A5 8B 51 6C 4D 54 21 2B 5E F4 57 A1 38 ..S..QlMT!+^.W.8 +2624: 71 F8 1C D3 15 0B CD 2A A1 0A 59 B1 A2 BF 9A 6E q......*..Y....n +2640: 16 D3 55 ED 6A DD 94 55 2E 2B 5E 0E 55 26 9B C5 ..U.j..U.+^.U&.. +2656: 74 D5 08 32 29 64 C5 CB 71 CA 44 B3 B8 AE DA 75 t..2)d..q.D....u +2672: 9B C9 8A 17 FD 55 67 76 7B EA 02 B3 E5 2E BB 9F .....Ugv{....... +2688: 8D F3 EE 2A A2 2B 66 14 3E 47 87 CE 97 0B 74 82 ...*.+f.>G....t. +2704: 60 17 5D 0D D4 DF D5 B9 2A 84 39 96 A6 BA FD 16 `.].....*.9..... +2720: 4B BE CA 15 5F 1B 69 FA EB EE AA 5C 13 44 D7 8C K..._.i....\.D.. +2736: 16 8B BC CA 35 5E E9 46 03 45 E4 46 1B 57 2A 55 ....5^.F.E.F.W*U +2752: BE A2 C4 5D 69 9E FA 98 FE 3A BB 1A 35 0A 28 E6 ...]i....:..5.(. +2768: 7A 10 C5 6A 92 44 A3 35 35 E8 5C 0D 48 9D 7A 35 z..j.D.55.\.H.z5 +2784: 14 2B BA 9C 51 74 EC 86 8F 98 AC D4 20 09 11 3A .+..Qt.........: +2800: EB EB CE AA C4 67 58 16 B5 60 F3 EC 48 DD A8 6A .....gX..`..H..j +2816: 0C 4A F8 18 34 CE 03 60 E9 EC 67 C7 C0 7E 9B CF .J..4..`..g..~.. +2832: 1E EC E3 84 62 D7 8F A0 DA 83 7D 1C 56 34 FE 6D ....b.....}.V4.m +2848: 6A 93 ED C7 B8 8D D6 7F 1D 60 67 BF 4D 30 77 83 j........`g.M0w. +2864: 35 90 28 55 00 2B 6D 42 80 23 39 8A 39 61 3B 75 5.(U.+mB.#9.9a;u +2880: 45 87 94 00 4C F4 51 CA E7 F9 0B 11 04 81 14 22 E...L.Q........" +2896: D0 65 BE 02 1F 18 42 06 2A F3 21 7F 11 F8 40 48 .e....B.*.!...@H +2912: 21 04 55 26 2F 3D F8 80 49 21 16 07 A9 54 21 86 !.U&/=..I!...T!. +2928: 6A D2 B5 07 1F 30 39 44 EB 42 8A 42 10 D5 F4 6B j....09D.B.B...k +2944: B2 0F B8 24 3A 79 C8 44 A1 CB 1C C7 F9 D0 92 85 ...$:y.D........ +2960: 3A 82 14 87 B1 AA F3 20 89 65 3C 58 A2 8B AB 42 :........e......lK +3312: F3 F5 09 D1 3E 2F CC ED D8 1D D1 86 B3 0D 0B B7 ....>/.......... +3328: 95 F3 EC E8 BB 38 71 CC AD 9F 13 9F 0D 00 3A 78 .....8q.......:x +3344: 90 1D 03 0F 30 E4 7B F0 20 02 3D 16 03 0C FF 1E ....0.{...=..... +3360: 3C 88 08 00 AD 05 44 0A C9 1E 44 C5 10 E5 A0 21 <.....D...D....! +3376: 0B 2B 23 B2 60 23 E8 15 B4 64 21 A8 0E E7 CB F0 .+#.`#...d!..... +3392: FB BD DE 71 20 68 3A A0 24 E8 73 6A 95 2C 66 34 ...q.h:.$.sj.,f4 +3408: A4 14 85 12 68 99 C5 40 79 7F FD 83 52 09 A4 66 ....h..@y...R..f +3424: 58 58 51 08 80 94 79 4C BA 61 4C 00 F5 2B 86 F1 XXQ...yL.aL..+.. +3440: 87 82 7B 5A 66 32 E9 86 31 EE 1B A1 16 A6 C0 9D ..{Zf2..1....... +3456: 96 B9 4C AA 61 1C 77 A4 8E 33 CA 69 99 CD 38 C3 ..L.a.w..3.i..8. +3472: D8 AA 34 37 54 AF 83 7C 46 70 2D F2 91 CE FC 4F ..47T..|Fp-....O +3488: 30 62 5F AC EA 19 94 56 AD C4 3C 7F E1 17 44 17 0b_....V..<...D. +3504: 8B 96 A2 F8 6A 17 D3 5E 9C 8B 60 EC 3C CA 5F B4 ....j..^..`.<._. +3520: 3C 42 B9 EE CF A3 08 DF 5D 31 42 81 EF CF A3 08 ./*.P.{. +3728: 21 82 3D 1A 07 54 00 3D F8 10 51 00 5E 17 98 16 !.=..T.=..Q.^... +3744: 92 7D 88 8A 21 CE 43 53 16 CE 07 2C EB 37 6E CA .}..!.CS...,.7n. +3760: 8B 95 F3 B8 92 12 B6 B5 53 6B F8 93 BA EB 13 AE ........Sk...... +3776: 3B 3B B5 50 3E CC 5D 3F 30 8C F2 9F 6E 38 82 7F ;;.P>.]?0...n8.. +3792: 68 18 83 3E DD 70 84 F9 30 D4 18 E9 A9 86 A3 A0 h..>.p..0....... +3808: 37 EB B8 89 B7 33 DC 1C BC 21 30 78 43 ED 11 65 7....3...!0xC..e +3824: 23 4E E1 CE 3F 2A F8 AE 58 A7 D4 B3 DE B5 92 C7 #N..?*..X....... +3840: 88 27 95 BF 03 62 B3 AE FC DD 21 38 48 FE 1E 18 .'...b....!8H... +3856: C6 59 67 66 98 FC 3D 34 8C B2 CE CC 30 F9 7B 18 .Ygf..=4....0.{. +3872: 6A 94 75 66 86 C9 DF 9B 75 DC 62 9D 99 9D 59 57 j.uf....u.b...YW +3888: 24 1B CC 19 C7 F6 D0 63 84 4A 82 CC FA BA 4D 8A $......c.J....M. +3904: 90 59 5F 98 1E 53 3D AC 42 9E 0C AA 16 25 AA B5 .Y_..S=.B....%.. +3920: B9 88 58 94 E8 6F 81 4F 20 95 C0 2A A6 94 64 AB ..X..o.O...*..d. +3936: B8 4E 42 AB 88 4C 92 AD E2 22 09 23 8C 68 24 D1 .NB..L...".#.h$. +3952: 6A 4C 21 CD 7A 6D 08 44 09 5C 1E F4 48 8D 28 8C jL!.zm.D.\..H.(. +3968: 70 F2 51 A1 88 4A 1D C6 BA 96 A0 F8 33 F5 7F C5 p.Q..J......3... +3984: 16 48 30 C3 0D BA A3 0F D1 16 93 8A 16 D8 06 77 .H0............w +4000: 54 69 8B 6F 37 69 2D A5 98 64 18 84 57 0F 3E 2B Ti.o7i-..d..W.>+ +4016: 4C 9F 73 E5 73 4A 61 21 CA 7E 58 6E 52 7B 88 13 L.s.sJa!.~XnR{.. +4032: 93 12 57 03 CC 14 13 E7 89 3B C4 3C C1 E4 C5 D5 ..W......;.<.... +4048: 00 B3 C7 5B 63 82 49 8E AB 01 66 94 B7 D7 0E 22 ...[c.I...f...." +4064: 43 AE 06 98 65 BE 1F 27 0D 69 72 85 4B 93 3B 69 C...e..'.ir.K.;i +4080: 5A 4C 9A 9A 72 F1 90 6D 98 C1 A8 41 77 9B 24 72 ZL..r..m...Aw.$r +4096: 88 D5 4A 8A 8A 13 FD C8 6B 5B 45 B1 AB 1C 87 51 ..J.....k[E....Q +4112: 90 72 EB 5F 5E EC F3 CA 8A 6D 5E 37 50 DA 5F CB .r._^....m^7P._. +4128: C7 F3 FD A4 58 68 94 15 5B BB 16 1B BB F6 60 33 ....Xh..[.....`3 +4144: 10 66 6E B3 71 A5 8C E7 4F A4 B9 2B CD 77 74 55 .fn.q...O..+.wtU +4160: 3D EE AD 2C 50 AB 9C E5 0F A4 79 AB 5E 70 A9 56 =..,P.....y.^p.V +4176: 6B 82 13 F9 36 69 48 AD FA 4D B3 8A 6D 5C BD 55 k...6iH..M..m\.U +4192: 74 5E 4F FA 4D 81 CA 69 0B 2D A4 D9 BA 29 90 B1 t^O.M..i.-...).. +4208: 8F BE 54 3B C0 59 18 39 8B E3 0C A5 43 E0 1C 18 ..T;.Y.9....C... +4224: 6D E3 9C 6E 13 C7 39 34 DA C6 39 DD 2A 8E 73 2D m..n..94..9.*.s- +4240: BE 2D 9C 53 AD C6 70 6E D6 6A 1D 67 67 F5 3E CB .-.S..pn.j.gg.>. +4256: 59 0D 11 7C EB 6E 40 96 3E 7A 2F BE C4 99 3D 17 Y..|.n@.>z/...=. +4272: 9C 14 13 34 BC DC F8 B7 D8 F7 77 73 0C C5 FD F5 ...4......ws.... +4288: E1 0B 9E 69 68 95 15 BB FD 16 7B FD F6 61 14 03 ...ih.....{..a.. +4304: BA 76 AD 8C D3 02 E8 62 DD 51 0F 66 31 A2 EB 21 .v.....b.Q.f1..! +4320: A6 B6 20 BA 58 6C 94 6C 16 47 BA 5D B3 19 D2 C5 ....Xl.l.G.].... +4336: 0A 23 6F F6 3E 4B 2F 0C CD 37 BC 9F 55 1B 01 CD .#o.>K/..7..U... +4352: C6 83 32 C9 B9 9E 67 47 E3 F6 6D 89 C2 09 E5 10 ..2...gG..m..... +4368: B9 71 EF 74 3A FB FE 50 99 47 28 ED C1 3A 8E 29 .q.t:..P.G(..:.) +4384: 76 F9 18 AF 3D 38 80 03 8B C6 1F 21 37 D9 81 18 v...=8.....!7... +4400: BA 51 00 1A 0C 3B 07 6A 0C 53 60 98 BB 4D DA DC .Q...;.j.S`..M.. +4416: F4 71 41 B0 25 C2 6E BF 2B 3F FE D8 2A CF B7 81 .qA.%.n.+?..*... +4432: E5 F2 58 58 5B DE A9 A0 13 E5 C1 77 BB C1 E6 49 ..XX[......w...I +4448: 86 B5 EE 8E 21 E7 DF 6F 56 57 CB F9 DF 67 E7 85 ....!..oVW...g.. +4464: 17 7F EE 47 0A 2C 63 E1 58 87 8E 50 63 32 09 1C ...G.,c.X..Pc2.. +4480: 17 8F 09 E7 7E F4 23 80 DC 66 E3 EA A9 5F 7A 0F ....~.#..f..._z. +4496: DC BB AB CF 13 8F 64 AB B6 25 FA 56 CC 59 06 BB ......d..%.V.Y.. +4512: B7 9A 25 1E 89 56 6B A8 F3 0C 75 AC A6 1D E1 BE ..%..Vk...u..... +4528: A6 B3 C4 C3 5A 6C 02 D9 D4 B6 75 00 C0 B5 CD 36 ....Zl....u....6 +4544: 9D 0D D6 C5 8D 67 C3 22 2A 39 99 FB 23 B3 7E 1D .....g."*9..#.~. +4560: 53 0C 56 E9 9A 37 E7 CC 3E 70 75 4E B9 43 E8 53 S.V..7..>puN.C.S +4576: 9B DB D2 A5 DE C9 45 83 82 30 DC 87 07 38 C5 91 ......E..0...8.. +4592: 6A 69 F1 9C EE 41 8C E8 38 18 75 B6 25 9A 80 B8 ji...A..8.u.%... +4608: 85 FF 90 82 94 CF 3D C2 F8 23 EF 7E 92 45 09 43 ......=..#.~.E.C +4624: E9 A3 3F C9 12 2A 43 F1 E2 89 07 4C 0F 8A BB 11 ..?..*C....L.... +4640: B0 BD A8 A1 72 04 11 41 E6 47 FF 12 08 8C 22 E0 ....r..A.G....". +4656: 27 5B 8D 60 1F C6 BC 0D 7B A2 D5 28 EA 8D 9A 6E '[.`....{..(...n +4672: 00 AE F8 3D 9E D5 52 84 4B 96 3F D2 D2 F5 44 0B ...=..R.K.?...D. +4688: DD F5 89 96 41 19 A7 86 F0 79 FE 82 55 59 6A 1B ....A....y..UYj. +4704: 77 F7 41 F7 30 C5 5E 80 F7 5E 65 C7 CA A9 36 FA w.A.0.^..^e...6. +4720: A5 4F BD C3 8F 87 05 D1 41 1F 2E E0 4A 88 D5 4C .O......A...J..L +4736: 4B 14 E9 2E C4 64 D1 01 47 5D 21 DE 85 B8 44 78 K....d..G]!...Dx +4752: 29 11 CD C2 5D 69 1B 1B D2 0E 0A 3A A3 5A CC F3 )...]i.....:.Z.. +4768: 17 BC D8 45 34 06 3B CB 56 57 65 5E ED 03 78 EF ...E4.;.VWe^..x. +4784: 5D 76 AC 3B D7 86 BE E6 5B EF E0 C7 C3 84 C0 DF ]v.;....[....... +4800: 97 2B B8 00 BA 6A AC 25 82 7E 5C 89 09 61 0B 3C .+...j.%.~\..a.< +4816: 75 31 30 7C 59 DC 11 1D B1 11 23 A5 14 0C 31 5B u10|Y.....#...1[ +4832: 17 C5 D9 C7 5F 0A 1D 4A 08 06 91 8A 05 53 98 68 ...._..J.....S.h +4848: 98 DB 24 6C BA 1F BD 04 AE 20 12 C9 3D E9 5F 1D ..$l........=._. +4864: A1 59 44 0F E9 76 23 52 A8 45 BE 0D 7F AA DD 28 .YD..v#R.E.....( +4880: F7 CD 1A 6F 90 CE 22 3B B4 41 EA 2F 47 BC 58 28 ...o..";.A./G.X( +4896: A4 28 F1 B3 43 30 F4 38 99 8D 8B FF 27 EE FF AE .(..C0.8....'... +4912: BE C0 8E 0B 42 5B E7 1E 56 0B 92 D8 79 FE C2 8D ....B[..V...y... +4928: 6D 4D 67 E3 A9 FB 7F 9C FF 1F 15 09 7C 0F C6 1F mMg.........|... +4944: 5A BE EE 45 34 CE E7 EC 18 75 19 11 53 C4 E3 FE Z..E4....u..S... +4960: C5 75 9F 90 62 AA EB DF C1 88 0A EF 57 E7 6D 79 .u..b.......W.my +4976: F6 ED 60 54 AE F7 86 B2 A1 63 E7 20 B6 9B 2F AD ..`T.....c..../. +4992: ED 30 AD 28 E3 5B A7 C5 24 E1 4F 69 00 96 29 C3 .0.(.[..$.Oi..). +5008: 3B 46 60 5D F1 BE 86 60 43 57 10 99 E5 9E F4 2F ;F`]...`CW...../ +5024: AB D0 2C A2 9E 74 BB 11 B5 D4 22 DF 16 45 AA DD ..,..t...."..E.. +5040: A8 08 9A 35 DE 60 DD D9 45 77 15 95 B5 F9 32 C5 ...5.`..Ew....2. +5056: 89 D8 FA 28 BE A4 EC 29 25 68 02 66 3F 3A 12 34 ...(...)%h.f?:.4 +5072: 57 BC AF 04 2D 74 05 99 70 C8 3D E9 7F C6 21 34 W...-t..p.=...!4 +5088: 8B 4C 39 A4 DB 8D CC 39 D4 22 DF 9E 74 48 B5 1B .L9....9."..tH.. +5104: 9D 75 68 D6 78 63 DA C1 D9 6D C1 AE DD 43 C7 22 .uh.xc...m...C." +5120: 44 9D 52 1D 8E 5C ED 61 DC 49 48 65 E6 F9 0B DD D.R..\.a.IHe.... +5136: 35 EE E4 3E B8 B7 71 27 EF 55 76 D4 1D E3 4E A5 5..>..q'.Uv...N. +5152: 4F FD F3 8B 86 05 23 B9 07 17 22 28 47 6A A6 0D O.....#..."(Gj.. +5168: 75 B2 0B 51 AA E3 70 34 F8 76 2E 60 9B 2E 52 E2 u..Q..p4.v.`..R. +5184: 9E CC E4 A2 24 5C 2A B5 6D 2B 51 49 D5 A3 AF 4F ....$\*.m+QI...O +5200: 2B 15 22 9E 0B AA 75 B9 0A 51 E8 42 17 A2 5C D1 +."...u..Q.B..\. +5216: 03 E5 6E 09 D5 5E 26 20 08 2D 7F 6A 1E 99 81 80 ..n..^&..-.j.... +5232: D2 FE 16 AE 95 6A A8 87 80 4A 5E 68 40 94 0B 7D .....j...J^h@..} +5248: F2 10 F4 AC 81 66 EC 69 41 BE 28 97 FA A4 1A C6 .....f.iA.(..... +5264: C9 47 2A 3D E3 5D 94 8B 7D 9C E1 7B CC 45 08 2A .G*=.]..}..{.E.* +5280: D4 B6 7D E3 24 B5 4F 67 B6 4D 3C E7 D2 EA 6A 12 ..}.$.Og.M<...j. +5296: A6 CD BB 2B DF DB 84 9B B4 AA 63 C6 0D 4A 07 98 ...+......c..J.. +5312: 72 AB 87 00 E3 BD 08 41 EF BC D7 63 DF E6 3D D9 r......A...c..=. +5328: 70 8C F7 56 A5 37 78 F7 86 A3 3B A8 97 3F 4A AA p..V.7x...;..?J. +5344: 04 57 DB 93 75 46 9F 4E B2 2E DC DA 28 5B A5 6E .W..uF.N....([.n +5360: 08 EF 50 BE AF 6C 5D 1A DA 91 AD BB D2 01 B2 F5 ..P..l]......... +5376: 7A 08 50 DE F3 10 F4 CF 7B 2D F6 08 EF A9 86 A3 z.P.....{-...... +5392: BC 37 2B BD C9 BB 33 8C ED 34 A1 46 4C 84 BC 6B .7+...3..4.FL..k +5408: 6E B7 6E 13 64 E4 D3 19 89 81 4B 27 44 54 FD 72 n.n.d.....K'DT.r +5424: 84 77 28 DF D7 50 8C A2 A6 63 39 9C 2B 1D 60 28 .w(..P...c9.+.`( +5440: A6 1E 02 94 F7 3C 04 FD F3 5E 8B 3D C2 7B AA E1 .....<...^.=.{.. +5456: 28 EF CD 4A 6F F2 EE 0C A3 4F 6F 55 CF 98 8C 0A (..Jo....OoU.... +5472: E0 2B F8 05 71 C9 FC B4 78 CA 7E 2F F0 D2 79 FE .+..q...x.~/..y. +5488: 82 B9 07 45 27 5D 1C D3 FD 71 6C D9 3C 3B D2 CA ...E']...ql.<;.. +5504: 2B 8C 68 4B 87 22 1A 8B 4B 04 6E 3A 14 DC 78 DD +.hK."..K.n:..x. +5520: A0 9C D3 A1 38 8F F2 D1 46 3E F2 4C 95 1A F1 70 ....8...F>.L...p +5536: B4 1D 30 F7 A3 ED B3 61 7F CF 31 A0 1C 22 EC 9E ..0....a..1..".. +5552: BB 8C DF A3 DD 07 F6 D5 E7 04 66 45 E9 0C 8A B4 ..........fE.... +5568: 18 A4 D3 59 0B 02 06 72 11 84 DE 41 6E 84 BF 8D ...Y...r...An... +5584: 6F B2 E5 18 BE ED 8A 6F 40 EB 2D 3F E0 3E 6D BB o......o@.-?.>m. +5600: 7F EA 02 A6 79 D9 E3 EF FB 53 57 80 98 76 24 E5 ....y....SW..v$. +5616: AE 7C 5F 49 39 10 6E A7 AF 3A 6E E9 76 90 A4 3C .|_I9.n..:n.v..< +5632: 0C 41 04 7F 31 48 52 5E 8F 3D 4A BF 18 24 29 6F .A..1HR^.=J..$)o +5648: 55 7A 1B FE 87 24 29 92 74 6F 04 E4 E0 7F 42 0F Uz...$).to....B. +5664: AB F8 38 F0 D9 AB CE BB FF DE 26 4B 15 23 64 16 ..8.......&K.#d. +5680: CF D0 A1 74 90 7C 26 0C 41 04 7E 3E 48 12 53 8F ...t.|&.A.~>H.S. +5696: 3D 0A 3F 1F 24 73 69 55 7A 1B 7E FE 10 F8 B3 5D =.?.$siUz.~....] +5712: B0 C6 D3 E9 B4 7A 92 05 FE 31 34 C0 59 16 06 2F .....z...14.Y../ +5728: DC 7A D5 C9 A4 F3 4E CE 60 48 CB B9 B4 27 9E B3 .z....N.`H...'.. +5744: 4C 9D 11 1A 78 86 A2 5D F8 35 04 DD 68 7C 22 A4 L...x..].5..h|". +5760: F7 E0 47 14 F6 48 3D A1 E0 27 FB D1 C1 7E 9C 97 ..G..H=..'...~.. +5776: B6 0E D8 43 74 C0 B7 0D D3 98 5D 87 E1 07 6F 04 ...Ct.....]...o. +5792: C8 B4 BB 11 20 7B 6C 04 3A 56 CC B8 D2 A1 1A 01 .....{l.:V...... +5808: 32 ED 6E 04 C8 50 8D 00 99 76 37 02 64 A8 46 80 2.n..P...v7.d.F. +5824: 4C BB 1B 01 12 85 3F 7F CE 1C 83 5F 66 C3 34 E3 L.....?...._f.4. +5840: F1 64 6F 23 35 50 A9 3C D7 B4 D1 D0 A7 99 BA 3D .do#5P.<.......= +5856: 84 3A 68 36 7B 4C 69 28 C9 9B 00 55 73 0C 45 5B .:h6{Li(...Us.E[ +5872: 0D 84 76 2C 3A 38 E8 66 A8 6C 27 5E 49 18 F6 66 ..v,:8.f.l'^I..f +5888: A8 DC A7 93 95 96 08 0C DF 59 04 52 6B B5 7D 62 .........Y.Rk.}b +5904: 4A 3C A5 3E 30 B5 D5 4F D4 63 9A 71 E5 FB EA 03 J<.>0..O.c.q.... +5920: 6B C6 54 7C 62 CA 95 0E D2 07 0E 43 80 09 A3 08 k.T|b......C.... +5936: 41 EF C2 A8 C7 BE 2D 85 64 C3 31 29 B4 2A BD 01 A.....-.d.1).*.. +5952: BF 37 DC 1A B5 64 FC 88 8A 11 07 F2 CB 95 36 4A .7...d........6J +5968: 10 BD 75 0F 74 AD F5 E3 EF 81 1E 22 CF B9 9C E7 ..u.t......".... +5984: 2F 54 B9 E7 35 0A 3F 77 1B DF 4D F6 D3 62 C0 0C /T..5.?w..M..b.. +6000: 9E 5F 8E 06 47 5D 7A 85 C8 C0 B8 C7 3F 26 03 34 ._..G]z.....?&.4 +6016: 17 78 5C 50 45 14 71 E9 5F 12 91 BA 41 C4 91 EC .x\PE.q._...A... +6032: 43 54 1D 71 3E 9A 3A E1 5C A1 4F C3 9B 11 35 23 CT.q>.:.\.O...5# +6048: 5E 3E 09 A9 89 1F 1E EA 5E A0 C3 9F D0 E3 F0 E2 ^>......^....... +6064: B9 B2 BC 6B 7D 8E B2 7B 7B 1E DE 48 42 E2 CB 73 ...k}..{{..HB..s +6080: 5C E9 20 CB 73 82 00 60 12 C8 03 D0 BB 00 6A 71 \...s..`......jq +6096: 6F 53 9F 6A 36 C6 7C B3 BA 1B A0 2B CB B1 95 C5 oS.j6.|....+.... +6112: 6E A1 02 0F 9A 03 18 08 32 E1 1E D1 7B 98 C4 62 n.......2...{..b +6128: D5 4E BE 68 CA CF C4 7E A6 B0 CC 73 23 A9 2C 7D .N.h...~...s#.,} +6144: A1 46 E7 A0 9A F2 77 D9 A1 7C 98 39 AC 20 06 68 .F....w..|.9...h +6160: 62 CF C4 30 33 58 B5 D8 23 99 3C 13 C3 CC 5F 35 b..03X..#.<..._5 +6176: EB BC 99 BA 33 11 5F 35 C9 CB 55 35 06 BA 5D DB ....3._5..U5..]. +6192: 76 B1 94 5C 3F FA 2A 61 96 D1 6E E8 B1 A0 A4 D8 v..\?.*a..n..... +6208: EE 90 DA 7C 0B 65 53 EC A0 0C 85 FB 22 5D 1B B7 ...|.eS....."].. +6224: BF FC 34 06 BA 2B EE 0F 74 9A 99 6D 5C 3E C9 77 ..4..+..t..m\>.w +6240: 4B 36 C5 66 C9 F9 E5 F7 03 39 43 6D 9A 7C 5F 64 K6.f.....9Cm.|_d +6256: 53 6C 8B 9C 6A B3 06 38 CB 00 47 AA D9 E1 6D 8A Sl..j..8..G...m. +6272: 0D 90 9D CD C8 06 C8 D6 FD 10 4B B6 73 BF 87 3B ..........K.s..; +6288: 00 DD 6C FF A1 22 62 1E 3F 49 0F 51 E7 73 7F 60 ..l.."b.?I.Q.s.` +6304: 55 22 8A 20 CF F7 94 9D 7B E6 E5 3C 3B 06 B9 31 U"......{..<;..1 +6320: 0A BF EA 31 3D 0F E9 6F 47 04 51 01 EF 31 2F 67 ...1=..oG.Q..1/g +6336: 9D C6 11 39 F0 1E 13 F2 50 0F 38 0B 0D 5D F0 1D ...9....P.8..].. +6352: 75 01 15 C7 EC B6 DF A7 93 BB FE 7E D7 74 48 55 u..........~.tHU +6368: 30 C1 CB 9F 2E 6B CB C1 95 EE 67 A8 C6 3C 97 86 0....k....g..<.. +6384: C8 D2 93 B6 0A 5C 71 7F 63 35 95 08 6A 01 68 D1 .....\q.c5..j.h. +6400: 5F 04 A0 6F FA 6B 56 5B D8 27 5B 8D 60 DF AA EC _..o.kV[.'[.`... +6416: 1A EF DE 2A 96 92 6B BF 76 98 54 90 6B BD F5 29 ...*..k.v.T.k..) +6432: 6E A1 1F 7D 52 2A 84 DC D0 72 42 06 81 DC EC 69 n..}R*...rB....i +6448: C1 25 40 AE A5 AE 66 A4 DA 90 43 71 7F E3 F6 21 .%@...f...Cq...! +6464: E4 41 00 10 C8 4D 8F 2B 2B 19 6E 15 81 DC F4 B8 .A...M.++.n..... +6480: 96 32 84 BC 51 D9 0D C8 0D 45 B7 2A E0 FE 96 6E .2..Q....E.*...n +6496: 4A C8 85 E2 5B C7 57 E4 E3 8F AF 04 90 2B 55 3D J...[.W......+U= +6512: FC D3 86 5C A9 3D 3D FD 04 90 4B 4D AB E1 95 36 ...\.==...KM...6 +6528: E4 50 DC DF F8 4A 00 79 18 80 36 E4 79 00 7A 87 .P...J.y..6.y.z. +6544: 3C B4 DA 86 3C D5 6A 0C F2 66 65 D7 21 57 D8 60 <...<.j..fe.!W.` +6560: 3B 95 9E 72 13 52 AE FC 63 AD 93 6E CA D9 53 A2 ;..r.R..c..n..S. +6576: DC 68 98 69 8E 52 0E A5 7B A3 1C F8 9A 76 50 CE .h.i.R..{....vP. +6592: DD D3 CD 03 50 1E 06 A0 4D 79 1E 80 DE 29 0F AD ....P...My...).. +6608: B6 29 4F B5 1A A3 BC 59 D9 75 CA 9D 55 6C 54 46 .)O....Y.u..UlTF +6624: B8 DD A3 CA 4D 03 35 D1 7A 7B 67 55 DB 27 30 A3 ....M.5.z{gU.'0. +6640: 14 60 EE 66 96 B3 63 57 77 35 9B D9 DE 53 7F 55 .`.f..cWw5...S.U +6656: 32 E9 FB AB 70 EC EC AF BA F2 41 FA AB 78 50 DA 2...p.....A..xP. +6672: 1A 28 82 D2 BB 08 50 FB 6D 35 24 DB 8F C9 21 0A .(....P.m5$...!. +6688: 45 5D 17 D6 E0 9B 69 4A B7 5B 38 2D 86 D6 35 65 E]....iJ.[8-..5e +6704: D6 A7 38 C5 DA 82 C1 FB 9A 5C 58 53 0D 2B B7 60 ..8......\XS.+.` +6720: 76 C5 FB EA 6C BA 47 C0 BA 46 D6 5D F9 10 BD CD v...l.G..F.].... +6736: 7A 08 5A E8 16 21 E8 9B DC BA D9 16 B1 C9 66 23 z.Z..!........f# +6752: C0 B6 2B BC 06 AA 37 8B CD 75 BA DD 37 82 27 99 ..+...7..u..7.'. +6768: E0 F4 56 6E 4F C6 1F 7F 37 82 02 75 F2 1C A4 65 ..VnO...7..u...e +6784: AB FC 8C E7 A4 93 6A D9 18 B7 FB CA 53 6A AE B4 ......j.....Sj.. +6800: 49 2F 5C E9 97 F4 7A 04 AC CD 39 27 D5 CA B0 64 I/\...z...9'...d +6816: AB 08 E8 A4 75 B1 19 E7 A4 5A 09 96 68 16 05 1D ....u....Z..h... +6832: A9 6E CF 39 A9 56 7E 71 8B EE 19 66 3C E7 BA E4 .n.9.V~q...f<... +6848: 9C 0B B3 75 97 19 45 9F CC FC 11 5C B8 32 D5 C6 ...u..E....\.2.. +6864: 2E 08 E7 50 BC AF 29 A4 9A 2B 08 E7 B9 2B BD 73 ...P..)..+...+.s +6880: 1E 98 45 38 4F B7 8A 73 DE B8 D8 26 E7 A9 66 63 ..E8O..s...&..fc +6896: 9C 37 AB BB C1 B9 33 DB E6 DC B8 7E A7 FB 09 E8 .7....3....~.... +6912: 00 74 FF 43 25 D3 6E D0 D9 93 02 5D CA 49 17 E8 .t.C%.n....].I.. +6928: 52 EE 0F F4 C0 15 0C 74 29 87 01 BD 32 8B 81 2E R......t)...2... +6944: E5 30 A0 D7 2F B6 05 BA 94 C3 80 DE A8 EE 26 E8 .0../.........&. +6960: 12 FB 21 40 EB 57 33 F2 10 74 98 EE DF BA 22 40 ..!@.W3..t...."@ +6976: 89 A7 04 BA B0 7A D6 01 BA B0 7A 6F A0 87 AE 20 .....z....zo.... +6992: A0 E7 AE F4 0E 7A 60 16 01 3D DD 2A 0E 7A E3 62 .....z`..=.*.z.b +7008: 9B A0 A7 9A 8D 81 DE AC EE 06 E8 02 DD 3F 49 1C .............?I. +7024: B9 75 2F 3C 48 D1 45 36 C8 D2 9D A2 2B F9 84 52 .u/..w.].....N!..Z +7984: ED D3 3C BE 99 79 43 AC 44 55 11 25 51 81 AA 0C ..<..yC.DU.%Q... +8000: F2 EE D7 EB 8D 14 DD 5C 6E AE 37 57 B1 B6 CF EE .......\n.7W.... +8016: BA EE 7E AB 57 1F EA 87 8F 1B F8 09 2B 7A 35 2D ..~.W.......+z5- +8032: 90 50 A1 9A 0B 34 8C 82 0C 31 11 47 0A 6A 42 8E .P...4...1.G.jB. +8048: 80 20 DE 31 08 43 4C 0E 88 37 48 0E 8E 54 26 C8 ...1.CL..7H..T&. +8064: 98 5A 6C 02 CD 93 07 82 14 1B C2 A4 05 B9 DA EC .Zl............. +8080: FA FB FB 6F 87 E3 D3 CD FD E7 A7 FD D3 FB 4F DB ...o..........O. +8096: 4F 00 C0 8C C8 7E 49 3F 3F FF F4 F5 F6 FE AF B8 O....~I??....... +8112: BD FD BC FF 76 F3 F0 70 F8 72 D8 DF 3C 1E EE 8E ....v..p.r..<... +8128: EF E3 CB DD FE D0 EF 2F 8E 77 8F 17 5F EE FE 3E ......./.w.._..> +8144: FE 79 46 00 83 40 F1 8A C9 BC 49 E4 D8 29 07 7D .yF..@....I..).} +8160: 1F 32 00 26 22 B8 E4 55 06 BF DC 1E 0F 5F 8F DF .2.&"..U....._.. +8176: 0B 49 29 B4 F5 5A D0 7A 32 08 19 BB 4C D7 57 BB .I)..Z.z2...L.W. +8192: A5 7C 40 53 08 12 69 5C 5D 3B 8A A4 C4 9B DB C0 .|@S..i\];...... +8208: BD C4 CC 81 72 32 21 A9 B1 F4 0C 92 72 4B FB 6E ....r2!.....rK.n +8224: 94 F6 82 52 52 E6 B8 96 DC 30 59 8C 3A B9 DD 32 ...RR....0Y.:..2 +8240: C6 48 2C 69 6E 22 16 39 03 2D 06 C2 20 65 92 32 .H,in".9.-...e.2 +8256: C1 29 C8 BA F2 DB 41 24 C1 92 B8 15 72 B1 32 83 .)....A$....r.2. +8272: 7C AD 92 2D 0B 25 D1 12 20 C2 33 D0 68 4F 51 EE |..-.%....3.hOQ. +8288: 29 23 9E 80 3C AF D2 33 D6 94 21 57 07 9E E9 15 )#..<..3..!W.... +8304: 58 A3 A7 1E 8A 9B 05 BD 90 70 06 E5 21 BD 20 E5 X........p..!... +8320: CC 89 22 4D 0E F6 8C 91 31 BB B6 13 F1 84 12 EC .."M....1....... +8336: 10 E7 2D 95 B2 2A 1E 83 27 81 28 A2 82 53 41 BC ..-..*..'.(..SA. +8352: C6 3B B2 61 22 E3 2A 51 71 13 08 79 0C 82 2A 22 .;.a".*Qq..y..*" +8368: 39 61 D6 00 F9 24 9E 66 5C 05 05 BF BE 27 F1 B9 9a...$.f\....'.. +8384: 5E 35 E7 B1 1D 62 BC 4B 25 85 8F 84 61 71 07 31 ^5...b.K%...aq.1 +8400: 67 5E 53 DC 10 C3 42 2D A4 9F 14 67 2E 78 D2 4C g^S...B-...g.x.L +8416: 2F 8D 42 0B 71 58 15 BE C5 28 7A 4C 0E EB 2D 61 /.B.qX...(zL..-a +8432: A8 CD F3 61 8A 69 2C 27 E6 74 C6 B3 7E FC 7D 83 ...a.i,'.t..~.}. +8448: FF 44 DB 73 85 C4 24 52 A7 C5 A6 0C 70 CC 80 55 .D.s..$R....p..U +8464: 67 15 78 85 B3 BE A4 FB 5F 68 6D A1 E3 6F EA B4 g.x....._hm..o.. +8480: CC A1 55 D0 17 9D 6A AE CD C2 CA 89 A1 16 01 EE ..U...j......... +8496: 73 20 67 5B B4 AA EE 6E 39 6C D4 BD 55 B3 4B 0F s.g[...n9l..U.K. +8512: E3 31 74 C6 2D D0 6D 23 0A 13 28 5A C0 7A E6 DD .1t.-.m#..(Z.z.. +8528: 75 3C 70 B4 E4 D0 E6 6D 59 EC 3C A9 69 52 DC 6B u"..5 +8560: 4F 18 75 58 73 7B 92 14 3D 14 FD 23 8E E7 A0 45 O.uXs{..=..#...E +8576: 9F 6B 2F 87 77 13 9F 80 62 5A AC 99 23 1B 72 D2 .k/.w...bZ..#.r. +8592: 96 E1 C9 85 03 A4 A7 A0 EF CA A8 90 DF DE 0C 2D ...............- +8608: A8 40 74 AD 43 E5 D9 1F 5A D4 55 1F 67 A5 70 95 .@t.C...Z.U.g.p. +8624: DE 08 E6 CF A8 B2 8E 72 4E 53 0D 97 F9 58 E0 79 .......rNS...X.y +8640: DC EE A0 22 68 3F 74 2E 40 8B 8A A6 12 15 CD 7A ..."h?t.@......z +8656: 1E 74 BB 2C AB D9 6B 64 FD E3 B8 BF BD 7F BC 39 .t.,..kd.......9 +8672: 1C 2F 1E 22 78 7F 1E 4F 5E 6C 5D 20 82 67 8A 43 ./."x..O^l]..g.C +8688: DC 29 89 3E CC 87 A5 27 49 55 C3 A7 54 6D C2 94 .).>...'IU..Tm.. +8704: DE F2 BB D1 01 40 C5 E2 40 93 2D 06 20 4C 28 99 .....@..@.-..L(. +8720: 1A 63 B9 19 31 8E BC 85 7E 4C E3 64 CA E1 E2 CA .c..1...~L.d.... +8736: 53 35 28 50 1E E5 35 0E 6A 1C 27 80 FF 51 62 8A S5(P..5.j.'..Qb. +8752: 46 35 4A 6A 31 54 0B 99 BD FB 17 1C BA 0D 2C D7 F5Jj1T........,. +8768: 0B 00 00 1F 8B 08 04 00 00 00 00 00 FF 06 00 42 ...............B +8784: 43 02 00 1B 00 03 00 00 00 00 00 00 00 00 00 C.............. diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_with_id_map@Case_1_vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_with_id_map@Case_1_vcf.snap index e554671b..5740a767 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_with_id_map@Case_1_vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_with_id_map@Case_1_vcf.snap @@ -57,7 +57,7 @@ expression: "std::fs::read_to_string(&args.path_out)?" ##x-varfish-version= ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Case_1_father Case_1_index Case_1_mother -17 41249263 . G A . . gnomad_exomes_an=31398;gnomad_exomes_hom=0;gnomad_exomes_het=56;gnomad_genomes_an=251304;gnomad_genomes_hom=0;gnomad_genomes_het=369;clinvar_clinsig=benign;clinvar_rcv=RCV000112746;clinvar_vcv=VCV000055642;ANN=A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/23|c.591C>T|p.C197=|704/7088|591/5592|197/1864|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/22|c.450C>T|p.C150=|644/7028|450/5451|150/1817|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/22|c.591C>T|p.C197=|610/3682|591/2280|197/760|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/22|c.591C>T|p.C197=|698/3696|591/2100|197/700|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/24|c.591C>T|p.C197=|704/7151|591/5655|197/1885|0| GT:AD:DP:GQ 0/0:52,0:52:99 0/0:46,0:46:99 0/1:21,21:42:99 +17 41249263 . G A . . gnomad_exomes_an=31398;gnomad_exomes_hom=0;gnomad_exomes_het=56;gnomad_genomes_an=251304;gnomad_genomes_hom=0;gnomad_genomes_het=369;clinvar_vcv=VCV000055642.108;clinvar_germline_classification=Benign;ANN=A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/23|c.591C>T|p.C197=|704/7088|591/5592|197/1864|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/22|c.450C>T|p.C150=|644/7028|450/5451|150/1817|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/22|c.591C>T|p.C197=|610/3682|591/2280|197/760|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/22|c.591C>T|p.C197=|698/3696|591/2100|197/700|0|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/24|c.591C>T|p.C197=|704/7151|591/5655|197/1885|0| GT:AD:DP:GQ 0/0:52,0:52:99 0/0:46,0:46:99 0/1:21,21:42:99 17 41252332 . T C . . ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-435A>G|p.?|555/7088|442/5592||435|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-435A>G|p.?|495/7028|301/5451||435|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-435A>G|p.?|461/3682|442/2280||435|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-435A>G|p.?|549/3696|442/2100||435|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-435A>G|p.?|555/7151|442/5655||435| GT:AD:DP:GQ 0/0:25,0:25:75 0/1:14,14:28:99 0/1:19,21:40:99 17 41252691 . ATATAAT A . . ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-800_442-795delATTATA|p.?|555/7088|442/5592||795|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-795delATTATA|p.?|495/7028|301/5451||795|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-800_442-795delATTATA|p.?|461/3682|442/2280||795|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-795delATTATA|p.?|549/3696|442/2100||795|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-795delATTATA|p.?|555/7151|442/5655||795| GT:AD:DP:GQ 0/0:9,0:9:27 0/1:4,10:14:99 0/1:12,11:23:99 17 41252693 . ATAAT A . . ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-800_442-797delATTA|p.?|555/7088|442/5592||797|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-797delATTA|p.?|495/7028|301/5451||797|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-800_442-797delATTA|p.?|461/3682|442/2280||797|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-797delATTA|p.?|549/3696|442/2100||797|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-797delATTA|p.?|555/7151|442/5655||797| GT:AD:DP:GQ 0/0:9,0:9:27 0/0:14,0:14:42 0/1:11,11:22:99 @@ -67,56 +67,56 @@ expression: "std::fs::read_to_string(&args.path_out)?" 17 41252697 . A ATT . . ANN=ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-801_442-800insAA|p.?|555/7088|442/5592||801|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-801_301-800insAA|p.?|495/7028|301/5451||801|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-801_442-800insAA|p.?|461/3682|442/2280||801|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-801_442-800insAA|p.?|549/3696|442/2100||801|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-801_442-800insAA|p.?|555/7151|442/5655||801| GT:AD:DP:GQ 0/0:45,0:45:99 0/1:17,16:33:99 0/1:12,21:33:99 17 41254393 . G T . . ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1746C>A|p.?|554/7088|441/5592||-1746|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1746C>A|p.?|494/7028|300/5451||-1746|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1746C>A|p.?|460/3682|441/2280||-1746|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1746C>A|p.?|548/3696|441/2100||-1746|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1746C>A|p.?|554/7151|441/5655||-1746| GT:AD:DP:GQ 0/1:29,8:37:66 ./.:.:.:. 0/0:32,3:35:47 17 41273700 . C CA . . ANN=CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2333_80+2334insT|p.?|193/7088|80/5592||-2334|,CA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2333_-8+2334insT|p.?|187/7028|-8/5451||-2334|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2333_80+2334insT|p.?|99/3682|80/2280||-2334|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2333_80+2334insT|p.?|187/3696|80/2100||-2334|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2333_80+2334insT|p.?|193/7151|80/5655||-2334| GT:AD:DP:GQ 0/0:14,0:14:42 0/0:6,1:7:10 0/1:5,5:10:65 -MT 73 . A G . . . GT:AD:DP:GQ 0/0:3975,0:3975:99 1/1:0,2871:2871:99 1/1:0,3320:3320:99 +MT 73 . A G . . clinvar_vcv=VCV003066071.1;clinvar_germline_classification=Affects GT:AD:DP:GQ 0/0:3975,0:3975:99 1/1:0,2871:2871:99 1/1:0,3320:3320:99 MT 119 . T C . . . GT:AD:DP:GQ 0/0:5417,1:5418:99 1/1:0,4039:4039:99 1/1:1,4112:4113:99 MT 189 . A G . . . GT:AD:DP:GQ 0/0:3069,0:3069:99 1/1:0,1721:1721:99 1/1:0,2204:2204:99 MT 195 . T C . . . GT:AD:DP:GQ 0/0:2599,0:2599:99 1/1:0,1592:1592:99 1/1:0,1815:1815:99 MT 204 . T C . . . GT:AD:DP:GQ 0/0:2180,0:2180:99 1/1:0,1424:1424:99 1/1:0,1304:1304:99 MT 207 . G A . . . GT:AD:DP:GQ 0/0:2115,0:2115:99 1/1:0,1408:1408:99 1/1:0,1277:1277:99 -MT 263 . A G . . . GT:AD:DP:GQ 1/1:0,1288:1288:99 1/1:0,1204:1204:99 1/1:0,1031:1031:99 +MT 263 . A G . . clinvar_vcv=VCV000441147.1;clinvar_germline_classification=not provided GT:AD:DP:GQ 1/1:0,1288:1288:99 1/1:0,1204:1204:99 1/1:0,1031:1031:99 MT 302 . A ACC . . . GT:AD:DP:GQ 0/1:157,687:844:99 0/0:1005,6:1011:99 0/0:800,3:803:99 MT 310 . T TC . . . GT:AD:DP:GQ 1/1:0,1035:1035:99 1/1:0,1411:1411:99 1/1:1,1090:1091:99 MT 477 . T C . . . GT:AD:DP:GQ 1/1:4,2129:2133:99 0/0:2266,1:2267:99 0/0:1725,0:1725:99 MT 709 . G A . . . GT:AD:DP:GQ 0/0:2494,0:2494:99 1/1:0,2186:2186:99 1/1:1,1813:1814:99 -MT 750 . A G . . . GT:AD:DP:GQ 1/1:0,2757:2757:99 1/1:0,2392:2392:99 1/1:0,1621:1621:99 +MT 750 . A G . . clinvar_vcv=VCV000441148.2;clinvar_germline_classification=association not found GT:AD:DP:GQ 1/1:0,2757:2757:99 1/1:0,2392:2392:99 1/1:0,1621:1621:99 MT 879 . T C . . . GT:AD:DP:GQ 0/0:2853,0:2853:99 0/0:2784,0:2784:99 0/1:1351,547:1898:99 -MT 1243 . T C . . . GT:AD:DP:GQ 0/0:2674,1:2675:99 1/1:0,2198:2198:99 1/1:0,1655:1655:99 -MT 1438 . A G . . . GT:AD:DP:GQ 1/1:0,3815:3815:99 1/1:0,3653:3653:99 1/1:0,2900:2900:99 +MT 1243 . T C . . clinvar_vcv=VCV000042212.5;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2674,1:2675:99 1/1:0,2198:2198:99 1/1:0,1655:1655:99 +MT 1438 . A G . . clinvar_vcv=VCV000042220.4;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,3815:3815:99 1/1:0,3653:3653:99 1/1:0,2900:2900:99 MT 1824 . T C . . . GT:AD:DP:GQ 1/1:0,2668:2668:99 0/0:2409,0:2409:99 0/0:1752,0:1752:99 MT 2633 . A G . . . GT:AD:DP:GQ 0/0:2535,0:2535:99 0/1:1648,761:2409:99 0/0:2269,0:2269:99 MT 2706 . A G . . . GT:AD:DP:GQ 0/0:3200,0:3200:99 1/1:0,2847:2847:99 1/1:0,2020:2020:99 -MT 3010 . G A . . . GT:AD:DP:GQ 1/1:0,2841:2841:99 0/0:2385,0:2385:99 0/0:1685,0:1685:99 -MT 3505 . A G . . . GT:AD:DP:GQ 0/0:2580,14:2594:99 1/1:0,2363:2363:99 1/1:0,1664:1664:99 +MT 3010 . G A . . clinvar_vcv=VCV000441149.1;clinvar_germline_classification=not provided GT:AD:DP:GQ 1/1:0,2841:2841:99 0/0:2385,0:2385:99 0/0:1685,0:1685:99 +MT 3505 . A G . . clinvar_vcv=VCV000252456.4;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2580,14:2594:99 1/1:0,2363:2363:99 1/1:0,1664:1664:99 MT 3784 . T C . . . GT:AD:DP:GQ 0/1:480,2456:2936:99 0/0:2504,0:2504:99 0/0:1991,0:1991:99 -MT 4769 . A G . . . GT:AD:DP:GQ 1/1:0,2689:2689:99 1/1:0,2549:2549:99 1/1:0,2108:2108:99 -MT 5046 . G A . . . GT:AD:DP:GQ 0/0:2876,2:2878:99 1/1:0,2466:2466:99 1/1:0,1661:1661:99 -MT 5460 . G A . . . GT:AD:DP:GQ 0/0:2905,2:2907:99 1/1:0,2759:2759:99 1/1:2,1968:1970:99 -MT 7028 . C T . . . GT:AD:DP:GQ 0/0:2577,3:2580:99 1/1:2,2201:2203:99 1/1:1,1945:1946:99 +MT 4769 . A G . . clinvar_vcv=VCV000441150.2;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,2689:2689:99 1/1:0,2549:2549:99 1/1:0,2108:2108:99 +MT 5046 . G A . . clinvar_vcv=VCV000692536.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2876,2:2878:99 1/1:0,2466:2466:99 1/1:0,1661:1661:99 +MT 5460 . G A . . clinvar_vcv=VCV000692591.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2905,2:2907:99 1/1:0,2759:2759:99 1/1:2,1968:1970:99 +MT 7028 . C T . . clinvar_vcv=VCV001676315.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2577,3:2580:99 1/1:2,2201:2203:99 1/1:1,1945:1946:99 MT 7864 . C T . . . GT:AD:DP:GQ 0/0:3588,1:3589:99 1/1:0,3465:3465:99 1/1:0,2746:2746:99 MT 8170 . A G . . . GT:AD:DP:GQ 0/0:2051,1:2052:99 1/1:0,2257:2257:99 1/1:0,1774:1774:99 MT 8251 . G A . . . GT:AD:DP:GQ 0/0:2360,0:2360:99 1/1:0,2317:2317:99 1/1:1,1624:1625:99 -MT 8860 . A G . . . GT:AD:DP:GQ 1/1:0,3278:3278:99 1/1:0,3088:3088:99 1/1:0,2241:2241:99 +MT 8860 . A G . . clinvar_vcv=VCV000693004.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,3278:3278:99 1/1:0,3088:3088:99 1/1:0,2241:2241:99 MT 8994 . G A . . . GT:AD:DP:GQ 0/0:2793,0:2793:99 1/1:0,2368:2368:99 1/1:1,1917:1918:99 -MT 9007 . A G . . . GT:AD:DP:GQ 1/1:0,2959:2959:99 0/0:2442,0:2442:99 0/0:1735,0:1735:99 +MT 9007 . A G . . clinvar_vcv=VCV000693051.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,2959:2959:99 0/0:2442,0:2442:99 0/0:1735,0:1735:99 MT 9150 . A G . . . GT:AD:DP:GQ 1/1:0,3163:3163:99 0/0:3538,0:3538:99 0/0:2767,0:2767:99 MT 9380 . G A . . . GT:AD:DP:GQ 1/1:1,3320:3321:99 0/0:3222,0:3222:99 0/0:2547,0:2547:99 MT 10097 . A G . . . GT:AD:DP:GQ 0/0:2660,0:2660:99 0/1:1680,508:2188:99 0/0:1851,0:1851:99 -MT 11204 . T C . . . GT:AD:DP:GQ 0/0:3168,5:3173:99 1/1:0,2922:2922:99 1/1:0,2418:2418:99 +MT 11204 . T C . . clinvar_vcv=VCV000693352.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:3168,5:3173:99 1/1:0,2922:2922:99 1/1:0,2418:2418:99 MT 11674 . C T . . . GT:AD:DP:GQ 0/0:2890,0:2890:99 1/1:0,2666:2666:99 1/1:1,2179:2180:99 -MT 11719 . G A . . . GT:AD:DP:GQ 0/0:3339,2:3341:99 1/1:0,3052:3052:99 1/1:0,2203:2203:99 +MT 11719 . G A . . clinvar_vcv=VCV003027424.1;clinvar_germline_classification=association GT:AD:DP:GQ 0/0:3339,2:3341:99 1/1:0,3052:3052:99 1/1:0,2203:2203:99 MT 11947 . A G . . . GT:AD:DP:GQ 0/0:2579,2:2581:99 1/1:0,2273:2273:99 1/1:0,1804:1804:99 MT 12414 . T C . . . GT:AD:DP:GQ 0/0:2852,3:2855:99 1/1:1,2545:2546:99 1/1:0,1733:1733:99 MT 12648 . A G . . . GT:AD:DP:GQ 0/0:1812,1:1813:99 1/1:2,1662:1664:99 1/1:4,1777:1781:99 MT 12705 . C T . . . GT:AD:DP:GQ 0/0:2359,10:2369:99 1/1:1,2137:2138:99 1/1:1,1621:1622:99 -MT 13406 . G A . . . GT:AD:DP:GQ 0/0:2539,1:2540:99 0/0:2216,0:2216:99 0/1:1224,733:1957:99 +MT 13406 . G A . . clinvar_vcv=VCV000693552.1;clinvar_germline_classification=Uncertain significance GT:AD:DP:GQ 0/0:2539,1:2540:99 0/0:2216,0:2216:99 0/1:1224,733:1957:99 MT 13611 . A G . . . GT:AD:DP:GQ 0/0:3838,2:3840:99 1/1:0,3717:3717:99 1/1:1,2834:2835:99 -MT 13928 . G C . . . GT:AD:DP:GQ 0/0:2947,0:2947:99 1/1:0,2700:2700:99 1/1:0,1880:1880:99 -MT 14148 . A G . . . GT:AD:DP:GQ 0/0:3019,2:3021:99 1/1:0,2820:2820:99 1/1:0,1962:1962:99 -MT 14766 . C T . . . GT:AD:DP:GQ 0/0:3318,3:3321:99 1/1:2,3111:3113:99 1/1:3,2355:2358:99 -MT 15326 . A G . . . GT:AD:DP:GQ 1/1:0,3716:3716:99 1/1:0,3560:3560:99 1/1:0,2690:2690:99 -MT 15884 . G C . . . GT:AD:DP:GQ 0/0:3595,1:3596:99 1/1:0,3167:3167:99 1/1:1,2733:2734:99 +MT 13928 . G C . . clinvar_vcv=VCV000693635.1;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:2947,0:2947:99 1/1:0,2700:2700:99 1/1:0,1880:1880:99 +MT 14148 . A G . . clinvar_vcv=VCV000235351.2;clinvar_germline_classification=Likely benign GT:AD:DP:GQ 0/0:3019,2:3021:99 1/1:0,2820:2820:99 1/1:0,1962:1962:99 +MT 14766 . C T . . clinvar_vcv=VCV000140587.4;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:3318,3:3321:99 1/1:2,3111:3113:99 1/1:3,2355:2358:99 +MT 15326 . A G . . clinvar_vcv=VCV000140592.4;clinvar_germline_classification=Benign GT:AD:DP:GQ 1/1:0,3716:3716:99 1/1:0,3560:3560:99 1/1:0,2690:2690:99 +MT 15884 . G C . . clinvar_vcv=VCV000252455.3;clinvar_germline_classification=Benign GT:AD:DP:GQ 0/0:3595,1:3596:99 1/1:0,3167:3167:99 1/1:1,2733:2734:99 MT 16184 . C T . . . GT:AD:DP:GQ 0/0:1406,1:1407:99 1/1:0,1969:1969:99 1/1:0,1478:1478:99 -MT 16223 . C T . . . GT:AD:DP:GQ 0/0:1405,1:1406:99 1/1:0,2018:2018:99 1/1:0,1472:1472:99 +MT 16223 . C T . . clinvar_vcv=VCV003027423.1;clinvar_germline_classification=association not found GT:AD:DP:GQ 0/0:1405,1:1406:99 1/1:0,2018:2018:99 1/1:0,1472:1472:99 MT 16263 . T C . . . GT:AD:DP:GQ 1/1:2,1476:1478:99 0/0:1994,0:1994:99 0/0:1475,0:1475:99 MT 16292 . C T . . . GT:AD:DP:GQ 0/0:1652,0:1652:99 1/1:1,1913:1914:99 1/1:0,1476:1476:99 MT 16519 . T C . . . GT:AD:DP:GQ 1/1:0,1759:1759:99 1/1:0,4094:4094:99 1/1:0,1744:1744:99 diff --git a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_with_id_map@NA12878_dragen_vcf.snap b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_with_id_map@NA12878_dragen_vcf.snap index 4a62dab9..0f4c1039 100644 --- a/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_with_id_map@NA12878_dragen_vcf.snap +++ b/src/seqvars/ingest/snapshots/varfish_server_worker__seqvars__ingest__test__result_snapshot_test_with_id_map@NA12878_dragen_vcf.snap @@ -53,87 +53,87 @@ expression: "std::fs::read_to_string(&args.path_out)?" ##x-varfish-version= ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT my-custom-id -17 41244000 . T C . . gnomad_exomes_an=31346;gnomad_exomes_hom=1591;gnomad_exomes_het=6707;gnomad_genomes_an=250954;gnomad_genomes_hom=16402;gnomad_genomes_het=55703;clinvar_clinsig=benign;clinvar_rcv=RCV000112115;clinvar_vcv=VCV000041818;ANN=C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.3548A>G|p.K1183R|3661/7088|3548/5592|1183/1864|0|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.3407A>G|p.K1136R|3601/7028|3407/5451|1136/1817|0|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.788-951A>G|p.?|807/3682|788/2280||951|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.788-951A>G|p.?|895/3696|788/2100||951|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.3548A>G|p.K1183R|3661/7151|3548/5655|1183/1885|0| GT:AD:DP:GQ 0/1:8,18:26:43 -17 41244435 . T C . . gnomad_exomes_an=31332;gnomad_exomes_hom=1505;gnomad_exomes_het=6415;gnomad_genomes_an=251032;gnomad_genomes_hom=16145;gnomad_genomes_het=55137;clinvar_clinsig=benign;clinvar_rcv=RCV000112006;clinvar_vcv=VCV000041815;ANN=C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.3113A>G|p.E1038G|3226/7088|3113/5592|1038/1864|0|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.2972A>G|p.E991G|3166/7028|2972/5451|991/1817|0|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.788-1386A>G|p.?|807/3682|788/2280||1386|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.788-1386A>G|p.?|895/3696|788/2100||1386|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.3113A>G|p.E1038G|3226/7151|3113/5655|1038/1885|0| GT:AD:DP:GQ 0/1:12,14:26:47 -17 41244936 . G A . . gnomad_exomes_an=31324;gnomad_exomes_hom=4287;gnomad_exomes_het=6594;gnomad_genomes_an=251034;gnomad_genomes_hom=22738;gnomad_genomes_het=55898;clinvar_clinsig=benign;clinvar_rcv=RCV000111903;clinvar_vcv=VCV000041812;ANN=A|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.2612C>T|p.P871L|2725/7088|2612/5592|871/1864|0|,A|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.2471C>T|p.P824L|2665/7028|2471/5451|824/1817|0|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.787+1825C>T|p.?|806/3682|787/2280||-1825|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.787+1825C>T|p.?|894/3696|787/2100||-1825|,A|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.2612C>T|p.P871L|2725/7151|2612/5655|871/1885|0| GT:AD:DP:GQ 0/1:17,13:30:47 -17 41245237 . A G . . gnomad_exomes_an=31314;gnomad_exomes_hom=1492;gnomad_exomes_het=6416;gnomad_genomes_an=250946;gnomad_genomes_hom=16057;gnomad_genomes_het=55063;clinvar_clinsig=benign;clinvar_rcv=RCV000111822;clinvar_vcv=VCV000125554;ANN=G|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.2311T>C|p.L771=|2424/7088|2311/5592|771/1864|0|,G|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.2170T>C|p.L724=|2364/7028|2170/5451|724/1817|0|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.787+1524T>C|p.?|806/3682|787/2280||-1524|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.787+1524T>C|p.?|894/3696|787/2100||-1524|,G|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.2311T>C|p.L771=|2424/7151|2311/5655|771/1885|0| GT:AD:DP:GQ 0/1:18,11:29:46 -17 41245466 . G A . . gnomad_exomes_an=31338;gnomad_exomes_hom=1602;gnomad_exomes_het=6709;gnomad_genomes_an=251110;gnomad_genomes_hom=16420;gnomad_genomes_het=55707;clinvar_clinsig=benign;clinvar_rcv=RCV000111763;clinvar_vcv=VCV000125536;ANN=A|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.2082C>T|p.S694=|2195/7088|2082/5592|694/1864|0|,A|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.1941C>T|p.S647=|2135/7028|1941/5451|647/1817|0|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.787+1295C>T|p.?|806/3682|787/2280||-1295|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.787+1295C>T|p.?|894/3696|787/2100||-1295|,A|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.2082C>T|p.S694=|2195/7151|2082/5655|694/1885|0| GT:AD:DP:GQ 0/1:11,8:19:48 -17 41247122 . A ACCT . . clinvar_clinsig=benign;clinvar_rcv=RCV000191391;clinvar_vcv=VCV000127125;ANN=ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|9/22|c.671-246_671-245insAGG|p.?|784/7088|671/5592||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|8/21|c.530-246_530-245insAGG|p.?|724/7028|530/5451||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|8/21|c.671-246_671-245insAGG|p.?|690/3682|671/2280||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|9/21|c.671-246_671-245insAGG|p.?|778/3696|671/2100||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|9/23|c.671-246_671-245insAGG|p.?|784/7151|671/5655||246| GT:AD:DP:GQ 0/1:18,11:29:45 -17 41247604 . A C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191392;clinvar_vcv=VCV000209447;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|9/22|c.670+259T>G|p.?|783/7088|670/5592||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|8/21|c.529+259T>G|p.?|723/7028|529/5451||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|8/21|c.670+259T>G|p.?|689/3682|670/2280||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|9/21|c.670+259T>G|p.?|777/3696|670/2100||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|9/23|c.670+259T>G|p.?|783/7151|670/5655||-259| GT:AD:DP:GQ 0/1:12,11:23:47 -17 41248164 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000191394;clinvar_vcv=VCV000209449;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.594-225G>A|p.?|707/7088|594/5592||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.453-225G>A|p.?|647/7028|453/5451||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.594-225G>A|p.?|613/3682|594/2280||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.594-225G>A|p.?|701/3696|594/2100||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.594-225G>A|p.?|707/7151|594/5655||225| GT:AD:DP:GQ 0/1:14,7:21:44 +17 41244000 . T C . . gnomad_exomes_an=31346;gnomad_exomes_hom=1591;gnomad_exomes_het=6707;gnomad_genomes_an=250954;gnomad_genomes_hom=16402;gnomad_genomes_het=55703;clinvar_vcv=VCV000041818.87;clinvar_germline_classification=Benign;ANN=C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.3548A>G|p.K1183R|3661/7088|3548/5592|1183/1864|0|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.3407A>G|p.K1136R|3601/7028|3407/5451|1136/1817|0|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.788-951A>G|p.?|807/3682|788/2280||951|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.788-951A>G|p.?|895/3696|788/2100||951|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.3548A>G|p.K1183R|3661/7151|3548/5655|1183/1885|0| GT:AD:DP:GQ 0/1:8,18:26:43 +17 41244435 . T C . . gnomad_exomes_an=31332;gnomad_exomes_hom=1505;gnomad_exomes_het=6415;gnomad_genomes_an=251032;gnomad_genomes_hom=16145;gnomad_genomes_het=55137;clinvar_vcv=VCV000041815.87;clinvar_germline_classification=Benign;ANN=C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.3113A>G|p.E1038G|3226/7088|3113/5592|1038/1864|0|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.2972A>G|p.E991G|3166/7028|2972/5451|991/1817|0|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.788-1386A>G|p.?|807/3682|788/2280||1386|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.788-1386A>G|p.?|895/3696|788/2100||1386|,C|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.3113A>G|p.E1038G|3226/7151|3113/5655|1038/1885|0| GT:AD:DP:GQ 0/1:12,14:26:47 +17 41244936 . G A . . gnomad_exomes_an=31324;gnomad_exomes_hom=4287;gnomad_exomes_het=6594;gnomad_genomes_an=251034;gnomad_genomes_hom=22738;gnomad_genomes_het=55898;clinvar_vcv=VCV000041812.88;clinvar_germline_classification=Benign;ANN=A|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.2612C>T|p.P871L|2725/7088|2612/5592|871/1864|0|,A|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.2471C>T|p.P824L|2665/7028|2471/5451|824/1817|0|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.787+1825C>T|p.?|806/3682|787/2280||-1825|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.787+1825C>T|p.?|894/3696|787/2100||-1825|,A|missense_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.2612C>T|p.P871L|2725/7151|2612/5655|871/1885|0| GT:AD:DP:GQ 0/1:17,13:30:47 +17 41245237 . A G . . gnomad_exomes_an=31314;gnomad_exomes_hom=1492;gnomad_exomes_het=6416;gnomad_genomes_an=250946;gnomad_genomes_hom=16057;gnomad_genomes_het=55063;clinvar_vcv=VCV000125554.83;clinvar_germline_classification=Benign;ANN=G|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.2311T>C|p.L771=|2424/7088|2311/5592|771/1864|0|,G|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.2170T>C|p.L724=|2364/7028|2170/5451|724/1817|0|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.787+1524T>C|p.?|806/3682|787/2280||-1524|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.787+1524T>C|p.?|894/3696|787/2100||-1524|,G|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.2311T>C|p.L771=|2424/7151|2311/5655|771/1885|0| GT:AD:DP:GQ 0/1:18,11:29:46 +17 41245466 . G A . . gnomad_exomes_an=31338;gnomad_exomes_hom=1602;gnomad_exomes_het=6709;gnomad_genomes_an=251110;gnomad_genomes_hom=16420;gnomad_genomes_het=55707;clinvar_vcv=VCV000125536.84;clinvar_germline_classification=Benign;ANN=A|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|10/23|c.2082C>T|p.S694=|2195/7088|2082/5592|694/1864|0|,A|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|9/22|c.1941C>T|p.S647=|2135/7028|1941/5451|647/1817|0|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|9/21|c.787+1295C>T|p.?|806/3682|787/2280||-1295|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|10/21|c.787+1295C>T|p.?|894/3696|787/2100||-1295|,A|synonymous_variant|LOW|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|10/24|c.2082C>T|p.S694=|2195/7151|2082/5655|694/1885|0| GT:AD:DP:GQ 0/1:11,8:19:48 +17 41247122 . A ACCT . . clinvar_vcv=VCV000127125.5;clinvar_germline_classification=Benign;ANN=ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|9/22|c.671-246_671-245insAGG|p.?|784/7088|671/5592||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|8/21|c.530-246_530-245insAGG|p.?|724/7028|530/5451||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|8/21|c.671-246_671-245insAGG|p.?|690/3682|671/2280||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|9/21|c.671-246_671-245insAGG|p.?|778/3696|671/2100||246|,ACCT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|9/23|c.671-246_671-245insAGG|p.?|784/7151|671/5655||246| GT:AD:DP:GQ 0/1:18,11:29:45 +17 41247604 . A C . . clinvar_vcv=VCV000209447.5;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|9/22|c.670+259T>G|p.?|783/7088|670/5592||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|8/21|c.529+259T>G|p.?|723/7028|529/5451||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|8/21|c.670+259T>G|p.?|689/3682|670/2280||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|9/21|c.670+259T>G|p.?|777/3696|670/2100||-259|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|9/23|c.670+259T>G|p.?|783/7151|670/5655||-259| GT:AD:DP:GQ 0/1:12,11:23:47 +17 41248164 . C T . . clinvar_vcv=VCV000209449.4;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.594-225G>A|p.?|707/7088|594/5592||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.453-225G>A|p.?|647/7028|453/5451||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.594-225G>A|p.?|613/3682|594/2280||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.594-225G>A|p.?|701/3696|594/2100||225|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.594-225G>A|p.?|707/7151|594/5655||225| GT:AD:DP:GQ 0/1:14,7:21:44 17 41248393 . C CAAAAAAAAAA . . ANN=CAAAAAAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.594-455_594-454insTTTTTTTTTT|p.?|707/7088|594/5592||455|,CAAAAAAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.453-455_453-454insTTTTTTTTTT|p.?|647/7028|453/5451||455|,CAAAAAAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.594-455_594-454insTTTTTTTTTT|p.?|613/3682|594/2280||455|,CAAAAAAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.594-455_594-454insTTTTTTTTTT|p.?|701/3696|594/2100||455|,CAAAAAAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.594-455_594-454insTTTTTTTTTT|p.?|707/7151|594/5655||455| GT:AD:DP:GQ 0/1:9,7:16:48 -17 41248484 . G C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191395;clinvar_vcv=VCV000209450;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.594-545C>G|p.?|707/7088|594/5592||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.453-545C>G|p.?|647/7028|453/5451||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.594-545C>G|p.?|613/3682|594/2280||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.594-545C>G|p.?|701/3696|594/2100||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.594-545C>G|p.?|707/7151|594/5655||545| GT:AD:DP:GQ 0/1:11,9:20:48 +17 41248484 . G C . . clinvar_vcv=VCV000209450.4;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.594-545C>G|p.?|707/7088|594/5592||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.453-545C>G|p.?|647/7028|453/5451||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.594-545C>G|p.?|613/3682|594/2280||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.594-545C>G|p.?|701/3696|594/2100||545|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.594-545C>G|p.?|707/7151|594/5655||545| GT:AD:DP:GQ 0/1:11,9:20:48 17 41248588 . CA C . . ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.594-650delT|p.?|707/7088|594/5592||650|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.453-650delT|p.?|647/7028|453/5451||650|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.594-650delT|p.?|613/3682|594/2280||650|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.594-650delT|p.?|701/3696|594/2100||650|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.594-650delT|p.?|707/7151|594/5655||650| GT:AD:DP:GQ 0/1:9,10:19:42 -17 41249094 . A G . . gnomad_exomes_an=31332;gnomad_exomes_hom=1602;gnomad_exomes_het=6703;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000191396;clinvar_vcv=VCV000209451;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.593+167T>C|p.?|706/7088|593/5592||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.452+167T>C|p.?|646/7028|452/5451||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.593+167T>C|p.?|612/3682|593/2280||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.593+167T>C|p.?|700/3696|593/2100||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.593+167T>C|p.?|706/7151|593/5655||-167| GT:AD:DP:GQ 0/1:9,7:16:48 +17 41249094 . A G . . gnomad_exomes_an=31332;gnomad_exomes_hom=1602;gnomad_exomes_het=6703;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_vcv=VCV000209451.5;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|8/22|c.593+167T>C|p.?|706/7088|593/5592||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/21|c.452+167T>C|p.?|646/7028|452/5451||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|7/21|c.593+167T>C|p.?|612/3682|593/2280||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/21|c.593+167T>C|p.?|700/3696|593/2100||-167|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/23|c.593+167T>C|p.?|706/7151|593/5655||-167| GT:AD:DP:GQ 0/1:9,7:16:48 17 41249363 . TA T . . gnomad_exomes_an=31286;gnomad_exomes_hom=1497;gnomad_exomes_het=6409;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.548-58delT|p.?|661/7088|548/5592||58|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.407-58delT|p.?|601/7028|407/5451||58|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.548-58delT|p.?|567/3682|548/2280||58|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.548-58delT|p.?|655/3696|548/2100||58|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.548-58delT|p.?|661/7151|548/5655||58| GT:AD:DP:GQ 0/1:12,13:25:48 17 41250047 . C CT . . ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.548-742_548-741insA|p.?|661/7088|548/5592||742|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.407-742_407-741insA|p.?|601/7028|407/5451||742|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.548-742_548-741insA|p.?|567/3682|548/2280||742|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.548-742_548-741insA|p.?|655/3696|548/2100||742|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.548-742_548-741insA|p.?|661/7151|548/5655||742| GT:AD:DP:GQ 0/1:13,7:20:18 -17 41250678 . C CT . . clinvar_clinsig=benign;clinvar_rcv=RCV000191403;clinvar_vcv=VCV000209458;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+1113_547+1114insA|p.?|660/7088|547/5592||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+1113_406+1114insA|p.?|600/7028|406/5451||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+1113_547+1114insA|p.?|566/3682|547/2280||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+1113_547+1114insA|p.?|654/3696|547/2100||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+1113_547+1114insA|p.?|660/7151|547/5655||-1114| GT:AD:DP:GQ 0/1:6,16:22:42 -17 41250923 . T C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191405;clinvar_vcv=VCV000209460;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+869A>G|p.?|660/7088|547/5592||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+869A>G|p.?|600/7028|406/5451||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+869A>G|p.?|566/3682|547/2280||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+869A>G|p.?|654/3696|547/2100||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+869A>G|p.?|660/7151|547/5655||-869| GT:AD:DP:GQ 0/1:13,9:22:47 -17 41251495 . C G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191408;clinvar_vcv=VCV000209463;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+297G>C|p.?|660/7088|547/5592||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+297G>C|p.?|600/7028|406/5451||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+297G>C|p.?|566/3682|547/2280||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+297G>C|p.?|654/3696|547/2100||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+297G>C|p.?|660/7151|547/5655||-297| GT:AD:DP:GQ 0/1:11,15:26:48 -17 41251646 . T A . . gnomad_exomes_an=31294;gnomad_exomes_hom=1592;gnomad_exomes_het=6693;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000112727;clinvar_vcv=VCV000125879;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+146A>T|p.?|660/7088|547/5592||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+146A>T|p.?|600/7028|406/5451||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+146A>T|p.?|566/3682|547/2280||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+146A>T|p.?|654/3696|547/2100||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+146A>T|p.?|660/7151|547/5655||-146| GT:AD:DP:GQ 0/1:11,8:19:48 -17 41252575 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191411;clinvar_vcv=VCV000209466;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-678C>T|p.?|555/7088|442/5592||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-678C>T|p.?|495/7028|301/5451||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-678C>T|p.?|461/3682|442/2280||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-678C>T|p.?|549/3696|442/2100||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-678C>T|p.?|555/7151|442/5655||678| GT:AD:DP:GQ:PS 1|1:0,3:3:5:41252575 -17 41252591 . C CAT . . ANN=CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-695_442-694insAT|p.?|555/7088|442/5592||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-695_301-694insAT|p.?|495/7028|301/5451||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-695_442-694insAT|p.?|461/3682|442/2280||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-695_442-694insAT|p.?|549/3696|442/2100||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-695_442-694insAT|p.?|555/7151|442/5655||695| GT:AD:DP:GQ:PS 1|1:0,2:2:4:41252575 -17 41254174 . A G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191423;clinvar_vcv=VCV000209478;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1965T>C|p.?|554/7088|441/5592||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1965T>C|p.?|494/7028|300/5451||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1965T>C|p.?|460/3682|441/2280||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1965T>C|p.?|548/3696|441/2100||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1965T>C|p.?|554/7151|441/5655||-1965| GT:AD:DP:GQ 0/1:14,13:27:48 +17 41250678 . C CT . . clinvar_vcv=VCV000209458.2;clinvar_germline_classification=Benign;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+1113_547+1114insA|p.?|660/7088|547/5592||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+1113_406+1114insA|p.?|600/7028|406/5451||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+1113_547+1114insA|p.?|566/3682|547/2280||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+1113_547+1114insA|p.?|654/3696|547/2100||-1114|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+1113_547+1114insA|p.?|660/7151|547/5655||-1114| GT:AD:DP:GQ 0/1:6,16:22:42 +17 41250923 . T C . . clinvar_vcv=VCV000209460.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+869A>G|p.?|660/7088|547/5592||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+869A>G|p.?|600/7028|406/5451||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+869A>G|p.?|566/3682|547/2280||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+869A>G|p.?|654/3696|547/2100||-869|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+869A>G|p.?|660/7151|547/5655||-869| GT:AD:DP:GQ 0/1:13,9:22:47 +17 41251495 . C G . . clinvar_vcv=VCV000209463.4;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+297G>C|p.?|660/7088|547/5592||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+297G>C|p.?|600/7028|406/5451||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+297G>C|p.?|566/3682|547/2280||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+297G>C|p.?|654/3696|547/2100||-297|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+297G>C|p.?|660/7151|547/5655||-297| GT:AD:DP:GQ 0/1:11,15:26:48 +17 41251646 . T A . . gnomad_exomes_an=31294;gnomad_exomes_hom=1592;gnomad_exomes_het=6693;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_vcv=VCV000125879.7;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|7/22|c.547+146A>T|p.?|660/7088|547/5592||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|6/21|c.406+146A>T|p.?|600/7028|406/5451||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|6/21|c.547+146A>T|p.?|566/3682|547/2280||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|7/21|c.547+146A>T|p.?|654/3696|547/2100||-146|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|7/23|c.547+146A>T|p.?|660/7151|547/5655||-146| GT:AD:DP:GQ 0/1:11,8:19:48 +17 41252575 . G A . . clinvar_vcv=VCV000209466.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-678C>T|p.?|555/7088|442/5592||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-678C>T|p.?|495/7028|301/5451||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-678C>T|p.?|461/3682|442/2280||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-678C>T|p.?|549/3696|442/2100||678|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-678C>T|p.?|555/7151|442/5655||678| GT:AD:DP:GQ:PS 1|1:0,3:3:5:41252575 +17 41252591 . C CAT . . clinvar_vcv=VCV000264796.2;clinvar_germline_classification=Benign;ANN=CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.442-695_442-694insAT|p.?|555/7088|442/5592||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-695_301-694insAT|p.?|495/7028|301/5451||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.442-695_442-694insAT|p.?|461/3682|442/2280||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-695_442-694insAT|p.?|549/3696|442/2100||695|,CAT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-695_442-694insAT|p.?|555/7151|442/5655||695| GT:AD:DP:GQ:PS 1|1:0,2:2:4:41252575 +17 41254174 . A G . . clinvar_vcv=VCV000209478.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1965T>C|p.?|554/7088|441/5592||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1965T>C|p.?|494/7028|300/5451||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1965T>C|p.?|460/3682|441/2280||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1965T>C|p.?|548/3696|441/2100||-1965|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1965T>C|p.?|554/7151|441/5655||-1965| GT:AD:DP:GQ 0/1:14,13:27:48 17 41254374 . C CTTTTTTTT . . ANN=CTTTTTTTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1764_441+1765insAAAAAAAA|p.?|554/7088|441/5592||-1765|,CTTTTTTTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1764_300+1765insAAAAAAAA|p.?|494/7028|300/5451||-1765|,CTTTTTTTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1764_441+1765insAAAAAAAA|p.?|460/3682|441/2280||-1765|,CTTTTTTTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1764_441+1765insAAAAAAAA|p.?|548/3696|441/2100||-1765|,CTTTTTTTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1764_441+1765insAAAAAAAA|p.?|554/7151|441/5655||-1765| GT:AD:DP:GQ 0/1:6,7:13:48 -17 41254405 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000256092;clinvar_vcv=VCV000264778;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1734G>A|p.?|554/7088|441/5592||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1734G>A|p.?|494/7028|300/5451||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1734G>A|p.?|460/3682|441/2280||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1734G>A|p.?|548/3696|441/2100||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1734G>A|p.?|554/7151|441/5655||-1734| GT:AD:DP:GQ 0/1:5,9:14:43 -17 41254486 . T G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191424;clinvar_vcv=VCV000209479;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1653A>C|p.?|554/7088|441/5592||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1653A>C|p.?|494/7028|300/5451||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1653A>C|p.?|460/3682|441/2280||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1653A>C|p.?|548/3696|441/2100||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1653A>C|p.?|554/7151|441/5655||-1653| GT:AD:DP:GQ 0/1:8,15:23:46 -17 41254965 . C CT . . clinvar_clinsig=benign;clinvar_rcv=RCV000255713;clinvar_vcv=VCV000264845;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1173_441+1174insA|p.?|554/7088|441/5592||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1173_300+1174insA|p.?|494/7028|300/5451||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1173_441+1174insA|p.?|460/3682|441/2280||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1173_441+1174insA|p.?|548/3696|441/2100||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1173_441+1174insA|p.?|554/7151|441/5655||-1174| GT:AD:DP:GQ 0/1:14,8:22:22 -17 41255102 . A G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191428;clinvar_vcv=VCV000209483;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1037T>C|p.?|554/7088|441/5592||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1037T>C|p.?|494/7028|300/5451||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1037T>C|p.?|460/3682|441/2280||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1037T>C|p.?|548/3696|441/2100||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1037T>C|p.?|554/7151|441/5655||-1037| GT:AD:DP:GQ:PS 0|1:19,12:31:46:41255102 -17 41255111 . A T . . clinvar_clinsig=benign;clinvar_rcv=RCV000191429;clinvar_vcv=VCV000209484;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1028T>A|p.?|554/7088|441/5592||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1028T>A|p.?|494/7028|300/5451||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1028T>A|p.?|460/3682|441/2280||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1028T>A|p.?|548/3696|441/2100||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1028T>A|p.?|554/7151|441/5655||-1028| GT:AD:DP:GQ:PS 0|1:19,12:31:46:41255102 +17 41254405 . C T . . clinvar_vcv=VCV000264778.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1734G>A|p.?|554/7088|441/5592||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1734G>A|p.?|494/7028|300/5451||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1734G>A|p.?|460/3682|441/2280||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1734G>A|p.?|548/3696|441/2100||-1734|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1734G>A|p.?|554/7151|441/5655||-1734| GT:AD:DP:GQ 0/1:5,9:14:43 +17 41254486 . T G . . clinvar_vcv=VCV000209479.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1653A>C|p.?|554/7088|441/5592||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1653A>C|p.?|494/7028|300/5451||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1653A>C|p.?|460/3682|441/2280||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1653A>C|p.?|548/3696|441/2100||-1653|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1653A>C|p.?|554/7151|441/5655||-1653| GT:AD:DP:GQ 0/1:8,15:23:46 +17 41254965 . C CT . . clinvar_vcv=VCV000264845.2;clinvar_germline_classification=Benign;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1173_441+1174insA|p.?|554/7088|441/5592||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1173_300+1174insA|p.?|494/7028|300/5451||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1173_441+1174insA|p.?|460/3682|441/2280||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1173_441+1174insA|p.?|548/3696|441/2100||-1174|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1173_441+1174insA|p.?|554/7151|441/5655||-1174| GT:AD:DP:GQ 0/1:14,8:22:22 +17 41255102 . A G . . clinvar_vcv=VCV000209483.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1037T>C|p.?|554/7088|441/5592||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1037T>C|p.?|494/7028|300/5451||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1037T>C|p.?|460/3682|441/2280||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1037T>C|p.?|548/3696|441/2100||-1037|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1037T>C|p.?|554/7151|441/5655||-1037| GT:AD:DP:GQ:PS 0|1:19,12:31:46:41255102 +17 41255111 . A T . . clinvar_vcv=VCV000209484.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+1028T>A|p.?|554/7088|441/5592||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1028T>A|p.?|494/7028|300/5451||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+1028T>A|p.?|460/3682|441/2280||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1028T>A|p.?|548/3696|441/2100||-1028|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1028T>A|p.?|554/7151|441/5655||-1028| GT:AD:DP:GQ:PS 0|1:19,12:31:46:41255102 17 41256074 . CA C . . gnomad_exomes_an=20150;gnomad_exomes_hom=2725;gnomad_exomes_het=5476;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+64delT|p.?|554/7088|441/5592||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+64delT|p.?|494/7028|300/5451||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+64delT|p.?|460/3682|441/2280||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+64delT|p.?|548/3696|441/2100||-64|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+64delT|p.?|554/7151|441/5655||-64| GT:AD:DP:GQ:PS 0|1:11,6:17:43:41256074 17 41256089 . AAAAAAAAAGAAAAG A . . gnomad_exomes_an=28388;gnomad_exomes_hom=1079;gnomad_exomes_het=5744;gnomad_genomes_an=167932;gnomad_genomes_hom=9911;gnomad_genomes_het=23697;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|6/22|c.441+36_441+49delCTTTTCTTTTTTTT|p.?|554/7088|441/5592||-36|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+36_300+49delCTTTTCTTTTTTTT|p.?|494/7028|300/5451||-36|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|5/21|c.441+36_441+49delCTTTTCTTTTTTTT|p.?|460/3682|441/2280||-36|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+36_441+49delCTTTTCTTTTTTTT|p.?|548/3696|441/2100||-36|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+36_441+49delCTTTTCTTTTTTTT|p.?|554/7151|441/5655||-36| GT:AD:DP:GQ:PS 0|1:13,6:19:43:41256074 -17 41257134 . T C . . gnomad_exomes_an=31346;gnomad_exomes_hom=4418;gnomad_exomes_het=6505;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000112024;clinvar_vcv=VCV000125614;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|4/22|c.213-161A>G|p.?|326/7088|213/5592||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.72-161A>G|p.?|266/7028|72/5451||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|3/21|c.213-161A>G|p.?|232/3682|213/2280||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.213-161A>G|p.?|320/3696|213/2100||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.213-161A>G|p.?|326/7151|213/5655||161| GT:AD:DP:GQ 0/1:14,15:29:48 -17 41257458 . A C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191434;clinvar_vcv=VCV000209489;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|4/22|c.213-485T>G|p.?|326/7088|213/5592||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.72-485T>G|p.?|266/7028|72/5451||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|3/21|c.213-485T>G|p.?|232/3682|213/2280||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.213-485T>G|p.?|320/3696|213/2100||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.213-485T>G|p.?|326/7151|213/5655||485| GT:AD:DP:GQ 0/1:11,15:26:48 -17 41258043 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000191436;clinvar_vcv=VCV000209491;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|4/22|c.212+430G>A|p.?|325/7088|212/5592||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.71+430G>A|p.?|265/7028|71/5451||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|3/21|c.212+430G>A|p.?|231/3682|212/2280||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.212+430G>A|p.?|319/3696|212/2100||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.212+430G>A|p.?|325/7151|212/5655||-430| GT:AD:DP:GQ 0/1:14,13:27:48 +17 41257134 . T C . . gnomad_exomes_an=31346;gnomad_exomes_hom=4418;gnomad_exomes_het=6505;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_vcv=VCV000125614.7;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|4/22|c.213-161A>G|p.?|326/7088|213/5592||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.72-161A>G|p.?|266/7028|72/5451||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|3/21|c.213-161A>G|p.?|232/3682|213/2280||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.213-161A>G|p.?|320/3696|213/2100||161|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.213-161A>G|p.?|326/7151|213/5655||161| GT:AD:DP:GQ 0/1:14,15:29:48 +17 41257458 . A C . . clinvar_vcv=VCV000209489.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|4/22|c.213-485T>G|p.?|326/7088|213/5592||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.72-485T>G|p.?|266/7028|72/5451||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|3/21|c.213-485T>G|p.?|232/3682|213/2280||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.213-485T>G|p.?|320/3696|213/2100||485|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.213-485T>G|p.?|326/7151|213/5655||485| GT:AD:DP:GQ 0/1:11,15:26:48 +17 41258043 . C T . . clinvar_vcv=VCV000209491.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|4/22|c.212+430G>A|p.?|325/7088|212/5592||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.71+430G>A|p.?|265/7028|71/5451||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|3/21|c.212+430G>A|p.?|231/3682|212/2280||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.212+430G>A|p.?|319/3696|212/2100||-430|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.212+430G>A|p.?|325/7151|212/5655||-430| GT:AD:DP:GQ 0/1:14,13:27:48 17 41258135 . T TA . . ANN=TA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|4/22|c.212+337_212+338insT|p.?|325/7088|212/5592||-338|,TA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|3/21|c.71+337_71+338insT|p.?|265/7028|71/5451||-338|,TA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|3/21|c.212+337_212+338insT|p.?|231/3682|212/2280||-338|,TA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|4/21|c.212+337_212+338insT|p.?|319/3696|212/2100||-338|,TA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|4/23|c.212+337_212+338insT|p.?|325/7151|212/5655||-338| GT:AD:DP:GQ 1/1:3,11:14:4 -17 41259049 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000191440;clinvar_vcv=VCV000209494;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-499G>A|p.?|248/7088|135/5592||499|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-499G>A|p.?|188/7028|-7/5451||499|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-499G>A|p.?|154/3682|135/2280||499|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-499G>A|p.?|242/3696|135/2100||499|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-499G>A|p.?|248/7151|135/5655||499| GT:AD:DP:GQ 0/1:8,8:16:48 +17 41259049 . C T . . clinvar_vcv=VCV000209494.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-499G>A|p.?|248/7088|135/5592||499|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-499G>A|p.?|188/7028|-7/5451||499|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-499G>A|p.?|154/3682|135/2280||499|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-499G>A|p.?|242/3696|135/2100||499|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-499G>A|p.?|248/7151|135/5655||499| GT:AD:DP:GQ 0/1:8,8:16:48 17 41259079 . A ATT . . ANN=ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-530_135-529insAA|p.?|248/7088|135/5592||530|,ATT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-530_-7-529insAA|p.?|188/7028|-7/5451||530|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-530_135-529insAA|p.?|154/3682|135/2280||530|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-530_135-529insAA|p.?|242/3696|135/2100||530|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-530_135-529insAA|p.?|248/7151|135/5655||530| GT:AD:DP:GQ 0/1:10,3:13:7 -17 41259113 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000255936;clinvar_vcv=VCV000264811;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-563C>T|p.?|248/7088|135/5592||563|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-563C>T|p.?|188/7028|-7/5451||563|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-563C>T|p.?|154/3682|135/2280||563|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-563C>T|p.?|242/3696|135/2100||563|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-563C>T|p.?|248/7151|135/5655||563| GT:AD:DP:GQ 0/1:11,8:19:48 -17 41260352 . C CA . . clinvar_clinsig=benign;clinvar_rcv=RCV000255985;clinvar_vcv=VCV000264791;ANN=CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-1803_135-1802insT|p.?|248/7088|135/5592||1803|,CA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-1803_-7-1802insT|p.?|188/7028|-7/5451||1803|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-1803_135-1802insT|p.?|154/3682|135/2280||1803|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-1803_135-1802insT|p.?|242/3696|135/2100||1803|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-1803_135-1802insT|p.?|248/7151|135/5655||1803| GT:AD:DP:GQ 0/1:11,8:19:43 +17 41259113 . G A . . clinvar_vcv=VCV000264811.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-563C>T|p.?|248/7088|135/5592||563|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-563C>T|p.?|188/7028|-7/5451||563|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-563C>T|p.?|154/3682|135/2280||563|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-563C>T|p.?|242/3696|135/2100||563|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-563C>T|p.?|248/7151|135/5655||563| GT:AD:DP:GQ 0/1:11,8:19:48 +17 41260352 . C CA . . clinvar_vcv=VCV000264791.2;clinvar_germline_classification=Benign;ANN=CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-1803_135-1802insT|p.?|248/7088|135/5592||1803|,CA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-1803_-7-1802insT|p.?|188/7028|-7/5451||1803|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-1803_135-1802insT|p.?|154/3682|135/2280||1803|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-1803_135-1802insT|p.?|242/3696|135/2100||1803|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-1803_135-1802insT|p.?|248/7151|135/5655||1803| GT:AD:DP:GQ 0/1:11,8:19:43 17 41260723 . C CAAAAA . . ANN=CAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-2174_135-2173insTTTTT|p.?|248/7088|135/5592||2174|,CAAAAA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-2174_-7-2173insTTTTT|p.?|188/7028|-7/5451||2174|,CAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-2174_135-2173insTTTTT|p.?|154/3682|135/2280||2174|,CAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-2174_135-2173insTTTTT|p.?|242/3696|135/2100||2174|,CAAAAA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-2174_135-2173insTTTTT|p.?|248/7151|135/5655||2174| GT:AD:DP:GQ 0/1:1,1:2:20 -17 41260808 . A G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191445;clinvar_vcv=VCV000209499;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-2258T>C|p.?|248/7088|135/5592||2258|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-2258T>C|p.?|188/7028|-7/5451||2258|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-2258T>C|p.?|154/3682|135/2280||2258|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-2258T>C|p.?|242/3696|135/2100||2258|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-2258T>C|p.?|248/7151|135/5655||2258| GT:AD:DP:GQ 0/1:12,3:15:32 -17 41261058 . T TCTATCTATCTACCTAC . . clinvar_clinsig=benign;clinvar_rcv=RCV000255302;clinvar_vcv=VCV000264813;ANN=TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|248/7088|135/5592||2509|,TCTATCTATCTACCTAC|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-2509_-7-2508insGTAGGTAGATAGATAG|p.?|188/7028|-7/5451||2509|,TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|154/3682|135/2280||2509|,TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|242/3696|135/2100||2509|,TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|248/7151|135/5655||2509| GT:AD:DP:GQ 0/1:9,11:20:48 -17 41261233 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000191449;clinvar_vcv=VCV000209503;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-2683G>A|p.?|248/7088|135/5592||2683|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-2683G>A|p.?|188/7028|-7/5451||2683|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-2683G>A|p.?|154/3682|135/2280||2683|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-2683G>A|p.?|242/3696|135/2100||2683|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-2683G>A|p.?|248/7151|135/5655||2683| GT:AD:DP:GQ 0/1:12,15:27:48 -17 41263044 . A G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191458;clinvar_vcv=VCV000209512;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-4494T>C|p.?|248/7088|135/5592||4494|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-4494T>C|p.?|188/7028|-7/5451||4494|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-4494T>C|p.?|154/3682|135/2280||4494|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-4494T>C|p.?|242/3696|135/2100||4494|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-4494T>C|p.?|248/7151|135/5655||4494| GT:AD:DP:GQ 0/1:7,7:14:48 +17 41260808 . A G . . clinvar_vcv=VCV000209499.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-2258T>C|p.?|248/7088|135/5592||2258|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-2258T>C|p.?|188/7028|-7/5451||2258|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-2258T>C|p.?|154/3682|135/2280||2258|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-2258T>C|p.?|242/3696|135/2100||2258|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-2258T>C|p.?|248/7151|135/5655||2258| GT:AD:DP:GQ 0/1:12,3:15:32 +17 41261058 . T TCTATCTATCTACCTAC . . clinvar_vcv=VCV000264813.2;clinvar_germline_classification=Benign;ANN=TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|248/7088|135/5592||2509|,TCTATCTATCTACCTAC|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-2509_-7-2508insGTAGGTAGATAGATAG|p.?|188/7028|-7/5451||2509|,TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|154/3682|135/2280||2509|,TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|242/3696|135/2100||2509|,TCTATCTATCTACCTAC|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-2509_135-2508insGTAGGTAGATAGATAG|p.?|248/7151|135/5655||2509| GT:AD:DP:GQ 0/1:9,11:20:48 +17 41261233 . C T . . clinvar_vcv=VCV000209503.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-2683G>A|p.?|248/7088|135/5592||2683|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-2683G>A|p.?|188/7028|-7/5451||2683|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-2683G>A|p.?|154/3682|135/2280||2683|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-2683G>A|p.?|242/3696|135/2100||2683|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-2683G>A|p.?|248/7151|135/5655||2683| GT:AD:DP:GQ 0/1:12,15:27:48 +17 41263044 . A G . . clinvar_vcv=VCV000209512.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-4494T>C|p.?|248/7088|135/5592||4494|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-4494T>C|p.?|188/7028|-7/5451||4494|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-4494T>C|p.?|154/3682|135/2280||4494|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-4494T>C|p.?|242/3696|135/2100||4494|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-4494T>C|p.?|248/7151|135/5655||4494| GT:AD:DP:GQ 0/1:7,7:14:48 17 41263117 . C CA . . ANN=CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.135-4568_135-4567insT|p.?|248/7088|135/5592||4568|,CA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-4568_-7-4567insT|p.?|188/7028|-7/5451||4568|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.135-4568_135-4567insT|p.?|154/3682|135/2280||4568|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.135-4568_135-4567insT|p.?|242/3696|135/2100||4568|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.135-4568_135-4567insT|p.?|248/7151|135/5655||4568| GT:AD:DP:GQ 0/1:13,10:23:34 -17 41263566 . T C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191462;clinvar_vcv=VCV000209516;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+4177A>G|p.?|247/7088|134/5592||-4177|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5016A>G|p.?|188/7028|-7/5451||5016|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+4177A>G|p.?|153/3682|134/2280||-4177|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+4177A>G|p.?|241/3696|134/2100||-4177|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+4177A>G|p.?|247/7151|134/5655||-4177| GT:AD:DP:GQ 0/1:11,8:19:48 -17 41264146 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191465;clinvar_vcv=VCV000209519;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+3597C>T|p.?|247/7088|134/5592||-3597|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5596C>T|p.?|188/7028|-7/5451||5596|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+3597C>T|p.?|153/3682|134/2280||-3597|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3597C>T|p.?|241/3696|134/2100||-3597|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3597C>T|p.?|247/7151|134/5655||-3597| GT:AD:DP:GQ 0/1:13,7:20:45 -17 41264364 . A G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191467;clinvar_vcv=VCV000209521;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+3379T>C|p.?|247/7088|134/5592||-3379|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5814T>C|p.?|188/7028|-7/5451||5814|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+3379T>C|p.?|153/3682|134/2280||-3379|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3379T>C|p.?|241/3696|134/2100||-3379|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3379T>C|p.?|247/7151|134/5655||-3379| GT:AD:DP:GQ 0/1:8,16:24:45 -17 41264739 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000255084;clinvar_vcv=VCV000264785;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+3004G>A|p.?|247/7088|134/5592||-3004|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6189G>A|p.?|188/7028|-7/5451||6189|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+3004G>A|p.?|153/3682|134/2280||-3004|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3004G>A|p.?|241/3696|134/2100||-3004|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3004G>A|p.?|247/7151|134/5655||-3004| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 +17 41263566 . T C . . clinvar_vcv=VCV000209516.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+4177A>G|p.?|247/7088|134/5592||-4177|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5016A>G|p.?|188/7028|-7/5451||5016|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+4177A>G|p.?|153/3682|134/2280||-4177|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+4177A>G|p.?|241/3696|134/2100||-4177|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+4177A>G|p.?|247/7151|134/5655||-4177| GT:AD:DP:GQ 0/1:11,8:19:48 +17 41264146 . G A . . clinvar_vcv=VCV000209519.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+3597C>T|p.?|247/7088|134/5592||-3597|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5596C>T|p.?|188/7028|-7/5451||5596|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+3597C>T|p.?|153/3682|134/2280||-3597|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3597C>T|p.?|241/3696|134/2100||-3597|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3597C>T|p.?|247/7151|134/5655||-3597| GT:AD:DP:GQ 0/1:13,7:20:45 +17 41264364 . A G . . clinvar_vcv=VCV000209521.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+3379T>C|p.?|247/7088|134/5592||-3379|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-5814T>C|p.?|188/7028|-7/5451||5814|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+3379T>C|p.?|153/3682|134/2280||-3379|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3379T>C|p.?|241/3696|134/2100||-3379|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3379T>C|p.?|247/7151|134/5655||-3379| GT:AD:DP:GQ 0/1:8,16:24:45 +17 41264739 . C T . . clinvar_vcv=VCV000264785.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+3004G>A|p.?|247/7088|134/5592||-3004|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6189G>A|p.?|188/7028|-7/5451||6189|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+3004G>A|p.?|153/3682|134/2280||-3004|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3004G>A|p.?|241/3696|134/2100||-3004|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3004G>A|p.?|247/7151|134/5655||-3004| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 17 41264740 . TGA T . . ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+3001_134+3002delTC|p.?|247/7088|134/5592||-3001|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6192_-7-6191delTC|p.?|188/7028|-7/5451||6191|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+3001_134+3002delTC|p.?|153/3682|134/2280||-3001|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+3001_134+3002delTC|p.?|241/3696|134/2100||-3001|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+3001_134+3002delTC|p.?|247/7151|134/5655||-3001| GT:AD:DP:GQ 0/1:14,16:30:48 17 41264743 . CT C . . ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2999delA|p.?|247/7088|134/5592||-2999|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6194delA|p.?|188/7028|-7/5451||6194|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2999delA|p.?|153/3682|134/2280||-2999|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2999delA|p.?|241/3696|134/2100||-2999|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2999delA|p.?|247/7151|134/5655||-2999| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 -17 41264749 . C G . . clinvar_clinsig=benign;clinvar_rcv=RCV000256095;clinvar_vcv=VCV000264823;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2994G>C|p.?|247/7088|134/5592||-2994|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6199G>C|p.?|188/7028|-7/5451||6199|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2994G>C|p.?|153/3682|134/2280||-2994|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2994G>C|p.?|241/3696|134/2100||-2994|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2994G>C|p.?|247/7151|134/5655||-2994| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 -17 41264750 . A T . . clinvar_clinsig=benign;clinvar_rcv=RCV000255162;clinvar_vcv=VCV000264824;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2993T>A|p.?|247/7088|134/5592||-2993|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6200T>A|p.?|188/7028|-7/5451||6200|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2993T>A|p.?|153/3682|134/2280||-2993|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2993T>A|p.?|241/3696|134/2100||-2993|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2993T>A|p.?|247/7151|134/5655||-2993| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 +17 41264749 . C G . . clinvar_vcv=VCV000264823.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2994G>C|p.?|247/7088|134/5592||-2994|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6199G>C|p.?|188/7028|-7/5451||6199|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2994G>C|p.?|153/3682|134/2280||-2994|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2994G>C|p.?|241/3696|134/2100||-2994|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2994G>C|p.?|247/7151|134/5655||-2994| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 +17 41264750 . A T . . clinvar_vcv=VCV000264824.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2993T>A|p.?|247/7088|134/5592||-2993|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6200T>A|p.?|188/7028|-7/5451||6200|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2993T>A|p.?|153/3682|134/2280||-2993|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2993T>A|p.?|241/3696|134/2100||-2993|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2993T>A|p.?|247/7151|134/5655||-2993| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 17 41264751 . A AGGG . . ANN=AGGG|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2991_134+2992insCCC|p.?|247/7088|134/5592||-2992|,AGGG|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6202_-7-6201insCCC|p.?|188/7028|-7/5451||6202|,AGGG|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2991_134+2992insCCC|p.?|153/3682|134/2280||-2992|,AGGG|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2991_134+2992insCCC|p.?|241/3696|134/2100||-2992|,AGGG|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2991_134+2992insCCC|p.?|247/7151|134/5655||-2992| GT:AD:DP:GQ:PS 0|1:14,15:29:48:41264739 -17 41264753 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000255582;clinvar_vcv=VCV000264819;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2990G>A|p.?|247/7088|134/5592||-2990|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6203G>A|p.?|188/7028|-7/5451||6203|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2990G>A|p.?|153/3682|134/2280||-2990|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2990G>A|p.?|241/3696|134/2100||-2990|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2990G>A|p.?|247/7151|134/5655||-2990| GT:AD:DP:GQ:PS 0|1:14,13:27:48:41264739 +17 41264753 . C T . . clinvar_vcv=VCV000264819.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2990G>A|p.?|247/7088|134/5592||-2990|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6203G>A|p.?|188/7028|-7/5451||6203|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2990G>A|p.?|153/3682|134/2280||-2990|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2990G>A|p.?|241/3696|134/2100||-2990|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2990G>A|p.?|247/7151|134/5655||-2990| GT:AD:DP:GQ:PS 0|1:14,13:27:48:41264739 17 41264755 . TGAAAC T . . ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+2983_134+2987delGTTTC|p.?|247/7088|134/5592||-2983|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-6210_-7-6206delGTTTC|p.?|188/7028|-7/5451||6206|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+2983_134+2987delGTTTC|p.?|153/3682|134/2280||-2983|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+2983_134+2987delGTTTC|p.?|241/3696|134/2100||-2983|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+2983_134+2987delGTTTC|p.?|247/7151|134/5655||-2983| GT:AD:DP:GQ:PS 0|1:14,13:27:48:41264739 -17 41265776 . A G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191470;clinvar_vcv=VCV000209524;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+1967T>C|p.?|247/7088|134/5592||-1967|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-7226T>C|p.?|188/7028|-7/5451||7226|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+1967T>C|p.?|153/3682|134/2280||-1967|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+1967T>C|p.?|241/3696|134/2100||-1967|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+1967T>C|p.?|247/7151|134/5655||-1967| GT:AD:DP:GQ 0/1:23,14:37:44 -17 41266407 . C CT . . clinvar_clinsig=benign;clinvar_rcv=RCV000255595;clinvar_vcv=VCV000264777;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+1335_134+1336insA|p.?|247/7088|134/5592||-1336|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-7858_-7-7857insA|p.?|188/7028|-7/5451||7858|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+1335_134+1336insA|p.?|153/3682|134/2280||-1336|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+1335_134+1336insA|p.?|241/3696|134/2100||-1336|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+1335_134+1336insA|p.?|247/7151|134/5655||-1336| GT:AD:DP:GQ 0/1:10,8:18:33 -17 41267050 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191477;clinvar_vcv=VCV000209531;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+693C>T|p.?|247/7088|134/5592||-693|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-8500C>T|p.?|188/7028|-7/5451||8500|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+693C>T|p.?|153/3682|134/2280||-693|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+693C>T|p.?|241/3696|134/2100||-693|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+693C>T|p.?|247/7151|134/5655||-693| GT:AD:DP:GQ 0/1:7,16:23:44 +17 41265776 . A G . . clinvar_vcv=VCV000209524.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+1967T>C|p.?|247/7088|134/5592||-1967|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-7226T>C|p.?|188/7028|-7/5451||7226|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+1967T>C|p.?|153/3682|134/2280||-1967|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+1967T>C|p.?|241/3696|134/2100||-1967|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+1967T>C|p.?|247/7151|134/5655||-1967| GT:AD:DP:GQ 0/1:23,14:37:44 +17 41266407 . C CT . . clinvar_vcv=VCV000264777.2;clinvar_germline_classification=Benign;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+1335_134+1336insA|p.?|247/7088|134/5592||-1336|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-7858_-7-7857insA|p.?|188/7028|-7/5451||7858|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+1335_134+1336insA|p.?|153/3682|134/2280||-1336|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+1335_134+1336insA|p.?|241/3696|134/2100||-1336|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+1335_134+1336insA|p.?|247/7151|134/5655||-1336| GT:AD:DP:GQ 0/1:10,8:18:33 +17 41267050 . G A . . clinvar_vcv=VCV000209531.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+693C>T|p.?|247/7088|134/5592||-693|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-7-8500C>T|p.?|188/7028|-7/5451||8500|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+693C>T|p.?|153/3682|134/2280||-693|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+693C>T|p.?|241/3696|134/2100||-693|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+693C>T|p.?|247/7151|134/5655||-693| GT:AD:DP:GQ 0/1:7,16:23:44 17 41267518 . CA C . . ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|3/22|c.134+224delT|p.?|247/7088|134/5592||-224|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+8515delT|p.?|187/7028|-8/5451||-8515|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|2/21|c.134+224delT|p.?|153/3682|134/2280||-224|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|3/21|c.134+224delT|p.?|241/3696|134/2100||-224|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|3/23|c.134+224delT|p.?|247/7151|134/5655||-224| GT:AD:DP:GQ 0/1:11,8:19:35 -17 41268206 . A C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191483;clinvar_vcv=VCV000209537;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-410T>G|p.?|194/7088|81/5592||410|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+7828T>G|p.?|187/7028|-8/5451||-7828|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-410T>G|p.?|100/3682|81/2280||410|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-410T>G|p.?|188/3696|81/2100||410|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-410T>G|p.?|194/7151|81/5655||410| GT:AD:DP:GQ:PS 0|1:13,9:22:46:41268206 -17 41268208 . C CT . . clinvar_clinsig=benign;clinvar_rcv=RCV000255730;clinvar_vcv=VCV000264808;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-413_81-412insA|p.?|194/7088|81/5592||413|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+7825_-8+7826insA|p.?|187/7028|-8/5451||-7826|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-413_81-412insA|p.?|100/3682|81/2280||413|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-413_81-412insA|p.?|188/3696|81/2100||413|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-413_81-412insA|p.?|194/7151|81/5655||413| GT:AD:DP:GQ:PS 0|1:13,9:22:46:41268206 -17 41270229 . T G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191491;clinvar_vcv=VCV000209545;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2433A>C|p.?|194/7088|81/5592||2433|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5805A>C|p.?|187/7028|-8/5451||-5805|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2433A>C|p.?|100/3682|81/2280||2433|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2433A>C|p.?|188/3696|81/2100||2433|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2433A>C|p.?|194/7151|81/5655||2433| GT:AD:DP:GQ 0/1:7,17:24:40 -17 41270277 . C T . . clinvar_clinsig=benign;clinvar_rcv=RCV000191493;clinvar_vcv=VCV000209547;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2481G>A|p.?|194/7088|81/5592||2481|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5757G>A|p.?|187/7028|-8/5451||-5757|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2481G>A|p.?|100/3682|81/2280||2481|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2481G>A|p.?|188/3696|81/2100||2481|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2481G>A|p.?|194/7151|81/5655||2481| GT:AD:DP:GQ 0/1:9,13:22:48 -17 41270463 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191497;clinvar_vcv=VCV000209551;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2667C>T|p.?|194/7088|81/5592||2667|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5571C>T|p.?|187/7028|-8/5451||-5571|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2667C>T|p.?|100/3682|81/2280||2667|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2667C>T|p.?|188/3696|81/2100||2667|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2667C>T|p.?|194/7151|81/5655||2667| GT:AD:DP:GQ 0/1:15,13:28:48 -17 41270666 . C A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191498;clinvar_vcv=VCV000209552;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2870G>T|p.?|194/7088|81/5592||2870|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5368G>T|p.?|187/7028|-8/5451||-5368|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2870G>T|p.?|100/3682|81/2280||2870|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2870G>T|p.?|188/3696|81/2100||2870|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2870G>T|p.?|194/7151|81/5655||2870| GT:AD:DP:GQ 0/1:11,4:15:43 -17 41270778 . C CT . . clinvar_clinsig=benign;clinvar_rcv=RCV000256051;clinvar_vcv=VCV000264797;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2983_81-2982insA|p.?|194/7088|81/5592||2983|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5255_-8+5256insA|p.?|187/7028|-8/5451||-5256|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2983_81-2982insA|p.?|100/3682|81/2280||2983|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2983_81-2982insA|p.?|188/3696|81/2100||2983|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2983_81-2982insA|p.?|194/7151|81/5655||2983| GT:AD:DP:GQ 0/1:11,5:16:14 +17 41268206 . A C . . clinvar_vcv=VCV000209537.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-410T>G|p.?|194/7088|81/5592||410|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+7828T>G|p.?|187/7028|-8/5451||-7828|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-410T>G|p.?|100/3682|81/2280||410|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-410T>G|p.?|188/3696|81/2100||410|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-410T>G|p.?|194/7151|81/5655||410| GT:AD:DP:GQ:PS 0|1:13,9:22:46:41268206 +17 41268208 . C CT . . clinvar_vcv=VCV000264808.2;clinvar_germline_classification=Benign;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-413_81-412insA|p.?|194/7088|81/5592||413|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+7825_-8+7826insA|p.?|187/7028|-8/5451||-7826|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-413_81-412insA|p.?|100/3682|81/2280||413|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-413_81-412insA|p.?|188/3696|81/2100||413|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-413_81-412insA|p.?|194/7151|81/5655||413| GT:AD:DP:GQ:PS 0|1:13,9:22:46:41268206 +17 41270229 . T G . . clinvar_vcv=VCV000209545.2;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2433A>C|p.?|194/7088|81/5592||2433|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5805A>C|p.?|187/7028|-8/5451||-5805|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2433A>C|p.?|100/3682|81/2280||2433|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2433A>C|p.?|188/3696|81/2100||2433|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2433A>C|p.?|194/7151|81/5655||2433| GT:AD:DP:GQ 0/1:7,17:24:40 +17 41270277 . C T . . clinvar_vcv=VCV000209547.2;clinvar_germline_classification=Benign;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2481G>A|p.?|194/7088|81/5592||2481|,T|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5757G>A|p.?|187/7028|-8/5451||-5757|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2481G>A|p.?|100/3682|81/2280||2481|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2481G>A|p.?|188/3696|81/2100||2481|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2481G>A|p.?|194/7151|81/5655||2481| GT:AD:DP:GQ 0/1:9,13:22:48 +17 41270463 . G A . . clinvar_vcv=VCV000209551.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2667C>T|p.?|194/7088|81/5592||2667|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5571C>T|p.?|187/7028|-8/5451||-5571|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2667C>T|p.?|100/3682|81/2280||2667|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2667C>T|p.?|188/3696|81/2100||2667|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2667C>T|p.?|194/7151|81/5655||2667| GT:AD:DP:GQ 0/1:15,13:28:48 +17 41270666 . C A . . clinvar_vcv=VCV000209552.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2870G>T|p.?|194/7088|81/5592||2870|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5368G>T|p.?|187/7028|-8/5451||-5368|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2870G>T|p.?|100/3682|81/2280||2870|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2870G>T|p.?|188/3696|81/2100||2870|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2870G>T|p.?|194/7151|81/5655||2870| GT:AD:DP:GQ 0/1:11,4:15:43 +17 41270778 . C CT . . clinvar_vcv=VCV000264797.2;clinvar_germline_classification=Benign;ANN=CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-2983_81-2982insA|p.?|194/7088|81/5592||2983|,CT|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+5255_-8+5256insA|p.?|187/7028|-8/5451||-5256|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-2983_81-2982insA|p.?|100/3682|81/2280||2983|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-2983_81-2982insA|p.?|188/3696|81/2100||2983|,CT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-2983_81-2982insA|p.?|194/7151|81/5655||2983| GT:AD:DP:GQ 0/1:11,5:16:14 17 41271293 . GA G . . ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.81-3498delT|p.?|194/7088|81/5592||3498|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+4740delT|p.?|187/7028|-8/5451||-4740|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.81-3498delT|p.?|100/3682|81/2280||3498|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.81-3498delT|p.?|188/3696|81/2100||3498|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.81-3498delT|p.?|194/7151|81/5655||3498| GT:AD:DP:GQ 0/1:10,10:20:48 -17 41273095 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191505;clinvar_vcv=VCV000209559;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2939C>T|p.?|193/7088|80/5592||-2939|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2939C>T|p.?|187/7028|-8/5451||-2939|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2939C>T|p.?|99/3682|80/2280||-2939|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2939C>T|p.?|187/3696|80/2100||-2939|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2939C>T|p.?|193/7151|80/5655||-2939| GT:AD:DP:GQ 0/1:12,8:20:47 -17 41273348 . T C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191507;clinvar_vcv=VCV000209561;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2686A>G|p.?|193/7088|80/5592||-2686|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2686A>G|p.?|187/7028|-8/5451||-2686|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2686A>G|p.?|99/3682|80/2280||-2686|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2686A>G|p.?|187/3696|80/2100||-2686|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2686A>G|p.?|193/7151|80/5655||-2686| GT:AD:DP:GQ 0/1:18,13:31:47 -17 41273379 . G C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191508;clinvar_vcv=VCV000209562;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2655C>G|p.?|193/7088|80/5592||-2655|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2655C>G|p.?|187/7028|-8/5451||-2655|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2655C>G|p.?|99/3682|80/2280||-2655|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2655C>G|p.?|187/3696|80/2100||-2655|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2655C>G|p.?|193/7151|80/5655||-2655| GT:AD:DP:GQ 0/1:19,14:33:47 -17 41273537 . A C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191510;clinvar_vcv=VCV000209564;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2497T>G|p.?|193/7088|80/5592||-2497|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2497T>G|p.?|187/7028|-8/5451||-2497|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2497T>G|p.?|99/3682|80/2280||-2497|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2497T>G|p.?|187/3696|80/2100||-2497|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2497T>G|p.?|193/7151|80/5655||-2497| GT:AD:DP:GQ 0/1:14,19:33:48 -17 41274778 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191511;clinvar_vcv=VCV000209565;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+1256C>T|p.?|193/7088|80/5592||-1256|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+1256C>T|p.?|187/7028|-8/5451||-1256|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+1256C>T|p.?|99/3682|80/2280||-1256|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+1256C>T|p.?|187/3696|80/2100||-1256|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+1256C>T|p.?|193/7151|80/5655||-1256| GT:AD:DP:GQ 0/1:11,16:27:48 -17 41274906 . G A . . clinvar_clinsig=benign;clinvar_rcv=RCV000191514;clinvar_vcv=VCV000209568;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+1128C>T|p.?|193/7088|80/5592||-1128|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+1128C>T|p.?|187/7028|-8/5451||-1128|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+1128C>T|p.?|99/3682|80/2280||-1128|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+1128C>T|p.?|187/3696|80/2100||-1128|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+1128C>T|p.?|193/7151|80/5655||-1128| GT:AD:DP:GQ 0/1:17,10:27:47 -17 41275081 . G GA . . clinvar_clinsig=benign;clinvar_rcv=RCV000191515;clinvar_vcv=VCV000209569;ANN=GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+952_80+953insT|p.?|193/7088|80/5592||-953|,GA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+952_-8+953insT|p.?|187/7028|-8/5451||-953|,GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+952_80+953insT|p.?|99/3682|80/2280||-953|,GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+952_80+953insT|p.?|187/3696|80/2100||-953|,GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+952_80+953insT|p.?|193/7151|80/5655||-953| GT:AD:DP:GQ 0/1:10,12:22:47 -17 41275151 . G C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191516;clinvar_vcv=VCV000209570;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+883C>G|p.?|193/7088|80/5592||-883|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+883C>G|p.?|187/7028|-8/5451||-883|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+883C>G|p.?|99/3682|80/2280||-883|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+883C>G|p.?|187/3696|80/2100||-883|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+883C>G|p.?|193/7151|80/5655||-883| GT:AD:DP:GQ 0/1:15,13:28:48 +17 41273095 . G A . . clinvar_vcv=VCV000209559.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2939C>T|p.?|193/7088|80/5592||-2939|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2939C>T|p.?|187/7028|-8/5451||-2939|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2939C>T|p.?|99/3682|80/2280||-2939|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2939C>T|p.?|187/3696|80/2100||-2939|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2939C>T|p.?|193/7151|80/5655||-2939| GT:AD:DP:GQ 0/1:12,8:20:47 +17 41273348 . T C . . clinvar_vcv=VCV000209561.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2686A>G|p.?|193/7088|80/5592||-2686|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2686A>G|p.?|187/7028|-8/5451||-2686|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2686A>G|p.?|99/3682|80/2280||-2686|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2686A>G|p.?|187/3696|80/2100||-2686|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2686A>G|p.?|193/7151|80/5655||-2686| GT:AD:DP:GQ 0/1:18,13:31:47 +17 41273379 . G C . . clinvar_vcv=VCV000209562.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2655C>G|p.?|193/7088|80/5592||-2655|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2655C>G|p.?|187/7028|-8/5451||-2655|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2655C>G|p.?|99/3682|80/2280||-2655|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2655C>G|p.?|187/3696|80/2100||-2655|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2655C>G|p.?|193/7151|80/5655||-2655| GT:AD:DP:GQ 0/1:19,14:33:47 +17 41273537 . A C . . clinvar_vcv=VCV000209564.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+2497T>G|p.?|193/7088|80/5592||-2497|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2497T>G|p.?|187/7028|-8/5451||-2497|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+2497T>G|p.?|99/3682|80/2280||-2497|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2497T>G|p.?|187/3696|80/2100||-2497|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2497T>G|p.?|193/7151|80/5655||-2497| GT:AD:DP:GQ 0/1:14,19:33:48 +17 41274778 . G A . . clinvar_vcv=VCV000209565.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+1256C>T|p.?|193/7088|80/5592||-1256|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+1256C>T|p.?|187/7028|-8/5451||-1256|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+1256C>T|p.?|99/3682|80/2280||-1256|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+1256C>T|p.?|187/3696|80/2100||-1256|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+1256C>T|p.?|193/7151|80/5655||-1256| GT:AD:DP:GQ 0/1:11,16:27:48 +17 41274906 . G A . . clinvar_vcv=VCV000209568.2;clinvar_germline_classification=Benign;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+1128C>T|p.?|193/7088|80/5592||-1128|,A|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+1128C>T|p.?|187/7028|-8/5451||-1128|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+1128C>T|p.?|99/3682|80/2280||-1128|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+1128C>T|p.?|187/3696|80/2100||-1128|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+1128C>T|p.?|193/7151|80/5655||-1128| GT:AD:DP:GQ 0/1:17,10:27:47 +17 41275081 . G GA . . clinvar_vcv=VCV000209569.2;clinvar_germline_classification=Benign;ANN=GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+952_80+953insT|p.?|193/7088|80/5592||-953|,GA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+952_-8+953insT|p.?|187/7028|-8/5451||-953|,GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+952_80+953insT|p.?|99/3682|80/2280||-953|,GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+952_80+953insT|p.?|187/3696|80/2100||-953|,GA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+952_80+953insT|p.?|193/7151|80/5655||-953| GT:AD:DP:GQ 0/1:10,12:22:47 +17 41275151 . G C . . clinvar_vcv=VCV000209570.2;clinvar_germline_classification=Benign;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+883C>G|p.?|193/7088|80/5592||-883|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+883C>G|p.?|187/7028|-8/5451||-883|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+883C>G|p.?|99/3682|80/2280||-883|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+883C>G|p.?|187/3696|80/2100||-883|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+883C>G|p.?|193/7151|80/5655||-883| GT:AD:DP:GQ 0/1:15,13:28:48 17 41275366 . GTTTTTTT G . . ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+661_80+667delAAAAAAA|p.?|193/7088|80/5592||-661|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+661_-8+667delAAAAAAA|p.?|187/7028|-8/5451||-661|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+661_80+667delAAAAAAA|p.?|99/3682|80/2280||-661|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+661_80+667delAAAAAAA|p.?|187/3696|80/2100||-661|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+661_80+667delAAAAAAA|p.?|193/7151|80/5655||-661| GT:AD:DP:GQ 0/1:10,11:21:48 -17 41275645 . A G . . clinvar_clinsig=benign;clinvar_rcv=RCV000191517;clinvar_vcv=VCV000209571;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+389T>C|p.?|193/7088|80/5592||-389|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+389T>C|p.?|187/7028|-8/5451||-389|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+389T>C|p.?|99/3682|80/2280||-389|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+389T>C|p.?|187/3696|80/2100||-389|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+389T>C|p.?|193/7151|80/5655||-389| GT:AD:DP:GQ 0/1:15,17:32:48 -17 41276247 . A G . . gnomad_exomes_an=31318;gnomad_exomes_hom=1611;gnomad_exomes_het=6702;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_clinsig=benign;clinvar_rcv=RCV000111495;clinvar_vcv=VCV000125468;ANN=G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|1/22|c.-19-115T>C|p.?|95/7088|-19/5592||115|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|1/21|c.-106-115T>C|p.?|89/7028|-106/5451||115|,G|upstream_gene_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|||||||115|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|1/21|c.-19-115T>C|p.?|89/3696|-19/2100||115|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|1/23|c.-19-115T>C|p.?|95/7151|-19/5655||115| GT:AD:DP:GQ 0/1:18,10:28:44 -17 41276348 . T C . . clinvar_clinsig=benign;clinvar_rcv=RCV000191520;clinvar_vcv=VCV000209574;ANN=C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|1/22|c.-19-216A>G|p.?|95/7088|-19/5592||216|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|1/21|c.-106-216A>G|p.?|89/7028|-106/5451||216|,C|upstream_gene_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|||||||216|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|1/21|c.-19-216A>G|p.?|89/3696|-19/2100||216|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|1/23|c.-19-216A>G|p.?|95/7151|-19/5655||216| GT:AD:DP:GQ 0/1:17,13:30:47 -17 41277187 . G C . . gnomad_exomes_an=29432;gnomad_exomes_hom=4088;gnomad_exomes_het=6345;gnomad_genomes_an=128296;gnomad_genomes_hom=11705;gnomad_genomes_het=29182;clinvar_clinsig=benign;clinvar_rcv=RCV000169537;clinvar_vcv=VCV000189123;ANN=C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|1/22|c.-20+101C>G|p.?|94/7088|-20/5592||-101|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|1/21|c.-107+107C>G|p.?|88/7028|-107/5451||-107|,C|upstream_gene_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|||||||1055|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|1/21|c.-20+107C>G|p.?|88/3696|-20/2100||-107|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|1/23|c.-20+101C>G|p.?|94/7151|-20/5655||-101| GT:AD:DP:GQ 0/1:14,14:28:48 +17 41275645 . A G . . clinvar_vcv=VCV000209571.3;clinvar_germline_classification=Benign;ANN=G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|2/22|c.80+389T>C|p.?|193/7088|80/5592||-389|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+389T>C|p.?|187/7028|-8/5451||-389|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|1/21|c.80+389T>C|p.?|99/3682|80/2280||-389|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+389T>C|p.?|187/3696|80/2100||-389|,G|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+389T>C|p.?|193/7151|80/5655||-389| GT:AD:DP:GQ 0/1:15,17:32:48 +17 41276247 . A G . . gnomad_exomes_an=31318;gnomad_exomes_hom=1611;gnomad_exomes_het=6702;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;clinvar_vcv=VCV000125468.4;clinvar_germline_classification=Benign;ANN=G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|1/22|c.-19-115T>C|p.?|95/7088|-19/5592||115|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|1/21|c.-106-115T>C|p.?|89/7028|-106/5451||115|,G|upstream_gene_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|||||||115|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|1/21|c.-19-115T>C|p.?|89/3696|-19/2100||115|,G|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|1/23|c.-19-115T>C|p.?|95/7151|-19/5655||115| GT:AD:DP:GQ 0/1:18,10:28:44 +17 41276348 . T C . . clinvar_vcv=VCV000209574.3;clinvar_germline_classification=Benign;ANN=C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|1/22|c.-19-216A>G|p.?|95/7088|-19/5592||216|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|1/21|c.-106-216A>G|p.?|89/7028|-106/5451||216|,C|upstream_gene_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|||||||216|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|1/21|c.-19-216A>G|p.?|89/3696|-19/2100||216|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|1/23|c.-19-216A>G|p.?|95/7151|-19/5655||216| GT:AD:DP:GQ 0/1:17,13:30:47 +17 41277187 . G C . . gnomad_exomes_an=29432;gnomad_exomes_hom=4088;gnomad_exomes_het=6345;gnomad_genomes_an=128296;gnomad_genomes_hom=11705;gnomad_genomes_het=29182;clinvar_vcv=VCV000189123.4;clinvar_germline_classification=Benign;ANN=C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding&ManeSelect|1/22|c.-20+101C>G|p.?|94/7088|-20/5592||-101|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|1/21|c.-107+107C>G|p.?|88/7028|-107/5451||-107|,C|upstream_gene_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007298.3|Coding|||||||1055|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|1/21|c.-20+107C>G|p.?|88/3696|-20/2100||-107|,C|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|1/23|c.-20+101C>G|p.?|94/7151|-20/5655||-101| GT:AD:DP:GQ 0/1:14,14:28:48 MT 152 . T C . . . GT:GQ:AD:DP 1/1:98:2,10582:10584 -MT 263 . A G . . . GT:GQ:AD:DP 1/1:98:0,7628:7628 +MT 263 . A G . . clinvar_vcv=VCV000441147.1;clinvar_germline_classification=not provided GT:GQ:AD:DP 1/1:98:0,7628:7628 MT 302 . A AC . . . GT:GQ:AD:DP 1/1:97:40,3496:3536 MT 310 . T TC . . . GT:GQ:AD:DP 1/1:97:100,3642:3742 MT 310 . T C . . . GT:GQ:AD:DP 0/1:22:3649,93:3742 @@ -142,8 +142,8 @@ MT 596 . T A . . . GT:GQ:AD:DP 0/1:18:7690,160:7850 MT 605 . T A . . . GT:GQ:AD:DP 0/1:22:5916,142:6058 MT 610 . T A . . . GT:GQ:AD:DP 0/1:3:5986,143:6129 MT 616 . T A . . . GT:GQ:AD:DP 0/1:0:6178,83:6261 -MT 750 . A G . . . GT:GQ:AD:DP 1/1:98:1,7818:7819 -MT 1438 . A G . . . GT:GQ:AD:DP 1/1:98:2,9168:9170 +MT 750 . A G . . clinvar_vcv=VCV000441148.2;clinvar_germline_classification=association not found GT:GQ:AD:DP 1/1:98:1,7818:7819 +MT 1438 . A G . . clinvar_vcv=VCV000042220.4;clinvar_germline_classification=Benign GT:GQ:AD:DP 1/1:98:2,9168:9170 MT 2141 . T TAG . . . GT:GQ:AD:DP 0/1:20:6260,26:6286 MT 2259 . C T . . . GT:GQ:AD:DP 1/1:98:3,7525:7528 MT 2645 . G A . . . GT:GQ:AD:DP 0/1:22:9159,34:9193 @@ -162,23 +162,23 @@ MT 3614 . T A . . . GT:GQ:AD:DP 0/1:20:5553,136:5689 MT 3631 . T A . . . GT:GQ:AD:DP 0/1:20:5740,153:5893 MT 3633 . T A . . . GT:GQ:AD:DP 0/1:11:5829,114:5943 MT 4434 . T G . . . GT:GQ:AD:DP 0/1:1:7711,167:7878 -MT 4491 . G A . . . GT:GQ:AD:DP 0/1:14:6096,12:6108 +MT 4491 . G A . . clinvar_vcv=VCV000692448.1;clinvar_germline_classification=Benign GT:GQ:AD:DP 0/1:14:6096,12:6108 MT 4745 . A G . . . GT:GQ:AD:DP:PS 1|1:94:0,4255:4255:4745 -MT 4769 . A G . . . GT:GQ:AD:DP:PS 1|1:96:0,4115:4115:4745 +MT 4769 . A G . . clinvar_vcv=VCV000441150.2;clinvar_germline_classification=Benign GT:GQ:AD:DP:PS 1|1:96:0,4115:4115:4745 MT 6518 . C T . . . GT:GQ:AD:DP 0/1:21:9464,40:9504 MT 7337 . G A . . . GT:GQ:AD:DP 1/1:93:2,8853:8855 MT 8129 . A C . . . GT:GQ:AD:DP 0/1:20:7971,202:8173 -MT 8860 . A G . . . GT:GQ:AD:DP 1/1:92:0,4988:4988 +MT 8860 . A G . . clinvar_vcv=VCV000693004.1;clinvar_germline_classification=Benign GT:GQ:AD:DP 1/1:92:0,4988:4988 MT 13326 . T C . . . GT:GQ:AD:DP 1/1:98:2,9161:9163 MT 13680 . C T . . . GT:GQ:AD:DP 1/1:98:25,5556:5581 MT 13680 . C G . . . GT:GQ:AD:DP 0/1:26:5557,24:5581 MT 13752 . T G . . . GT:GQ:AD:DP 0/1:22:4714,65:4779 -MT 13762 . T G . . . GT:GQ:AD:DP 0/1:22:4509,180:4689 +MT 13762 . T G . . clinvar_vcv=VCV000693603.1;clinvar_germline_classification=Benign GT:GQ:AD:DP 0/1:22:4509,180:4689 MT 13768 . T G . . . GT:GQ:AD:DP 0/1:22:4623,155:4778 MT 13769 . T G . . . GT:GQ:AD:DP 0/1:22:4684,115:4799 -MT 14831 . G A . . . GT:GQ:AD:DP 1/1:98:17,8829:8846 -MT 14831 . G C . . . GT:GQ:AD:DP 0/1:50:8832,14:8846 +MT 14831 . G A . . clinvar_vcv=VCV000065517.4;clinvar_germline_classification=Benign GT:GQ:AD:DP 1/1:98:17,8829:8846 +MT 14831 . G C . . clinvar_vcv=VCV000693773.1;clinvar_germline_classification=Uncertain significance GT:GQ:AD:DP 0/1:50:8832,14:8846 MT 14872 . C T . . . GT:GQ:AD:DP 1/1:98:5,6662:6667 MT 14918 . G A . . . GT:GQ:AD:DP 0/1:21:6570,237:6807 -MT 15326 . A G . . . GT:GQ:AD:DP 1/1:98:1,7647:7648 -MT 16023 . G A . . . GT:GQ:AD:DP 0/1:52:2572,6705:9277 +MT 15326 . A G . . clinvar_vcv=VCV000140592.4;clinvar_germline_classification=Benign GT:GQ:AD:DP 1/1:98:1,7647:7648 +MT 16023 . G A . . clinvar_vcv=VCV001684921.1;clinvar_germline_classification=Uncertain significance GT:GQ:AD:DP 0/1:52:2572,6705:9277 diff --git a/src/seqvars/prefilter/mod.rs b/src/seqvars/prefilter/mod.rs index 538bdd44..1b29059e 100644 --- a/src/seqvars/prefilter/mod.rs +++ b/src/seqvars/prefilter/mod.rs @@ -2,13 +2,9 @@ use std::io::BufRead; -use crate::common::noodles::open_vcf_reader; -use futures::TryStreamExt; -use mehari::{ - annotate::seqvars::ann::AnnField, - common::noodles::{open_vcf_writer, AsyncVcfReader, AsyncVcfWriter}, -}; -use noodles_vcf as vcf; +use mehari::annotate::seqvars::ann::AnnField; +use mehari::common::noodles::{open_vcf_reader, open_vcf_writer, AsyncVcfReader, AsyncVcfWriter}; +use noodles::vcf; use thousands::Separable; use tokio::io::AsyncWriteExt; @@ -68,14 +64,9 @@ fn load_params(params: &[String]) -> Result, anyhow::Error> } /// Extract an `i32` from a VCF record's `INFO`. -fn get_info_i32(input_record: &vcf::Record, key: &str) -> Result { - use vcf::record::info::field::Key; - - if let Some(Some(vcf::record::info::field::Value::Integer(gnomad_exomes_an))) = - input_record.info().get( - &key.parse::() - .map_err(|e| anyhow::anyhow!("invalid key {}: {}", key, e))?, - ) +fn get_info_i32(input_record: &vcf::variant::RecordBuf, key: &str) -> Result { + if let Some(Some(vcf::variant::record_buf::info::field::Value::Integer(gnomad_exomes_an))) = + input_record.info().get(key) { Ok(*gnomad_exomes_an) } else { @@ -86,8 +77,10 @@ fn get_info_i32(input_record: &vcf::Record, key: &str) -> Result Result<(f64, Option), anyhow::Error> { - if annonars::common::cli::canonicalize(&input_record.chromosome().to_string()) == "MT" { +fn get_freq_and_distance( + input_record: &vcf::variant::RecordBuf, +) -> Result<(f64, Option), anyhow::Error> { + if annonars::common::cli::canonicalize(input_record.reference_sequence_name()) == "MT" { return Ok((0.0, Some(0))); // all variants on chrMT are returned } @@ -121,10 +114,9 @@ fn get_freq_and_distance(input_record: &vcf::Record) -> Result<(f64, Option 0f64 }; - let key_ann: vcf::record::info::field::Key = "ANN".parse()?; - let exon_dist = if let Some(Some(ann)) = input_record.info().get(&key_ann) { - if let vcf::record::info::field::Value::Array( - vcf::record::info::field::value::Array::String(anns), + let exon_dist = if let Some(Some(ann)) = input_record.info().get("ANN") { + if let vcf::variant::record_buf::info::field::Value::Array( + vcf::variant::record_buf::info::field::value::Array::String(anns), ) = ann { let ann = anns @@ -137,7 +129,7 @@ fn get_freq_and_distance(input_record: &vcf::Record) -> Result<(f64, Option .map_err(|e| anyhow::anyhow!("failed to parse ANN field from {}: {}", ann, e))?; record.distance } else { - anyhow::bail!("wrong data type for ANN in VCF record: {}", &input_record) + anyhow::bail!("wrong data type for ANN in VCF record: {:?}", &input_record) } } else { None @@ -151,25 +143,35 @@ async fn run_filtration( input_reader: &mut AsyncVcfReader, input_header: &vcf::Header, output_writers: &mut [AsyncVcfWriter], + output_headers: &[vcf::Header], params: &[PrefilterParams], ) -> Result<(), anyhow::Error> { let start = std::time::Instant::now(); let mut prev = std::time::Instant::now(); - let mut records = input_reader.records(input_header); let mut total_written = 0usize; - while let Some(input_record) = records - .try_next() - .await - .map_err(|e| anyhow::anyhow!("problem reading VCF record {}", e))? - { + let mut input_record = vcf::variant::RecordBuf::default(); + loop { + let bytes_read = input_reader + .read_record_buf(input_header, &mut input_record) + .await + .map_err(|e| anyhow::anyhow!("problem reading VCF file: {}", e))?; + if bytes_read == 0 { + break; // EOF + } + dbg!(&input_record); + let (frequency, exon_distance) = get_freq_and_distance(&input_record)?; if let Some(exon_distance) = exon_distance { - for (writer_params, output_writer) in params.iter().zip(output_writers.iter_mut()) { + for ((writer_params, output_writer), output_header) in params + .iter() + .zip(output_writers.iter_mut()) + .zip(output_headers.iter()) + { if frequency <= writer_params.max_freq && exon_distance <= writer_params.max_exon_dist { output_writer - .write_record(&input_record) + .write_variant_record(output_header, &input_record) .await .map_err(|e| anyhow::anyhow!("failed to write record: {}", e))?; } @@ -215,41 +217,54 @@ pub async fn run(args_common: &crate::common::Args, args: &Args) -> Result<(), a tracing::info!("opening output files..."); let mut output_writers = Vec::new(); let mut out_path_helpers = Vec::new(); - for params in params_list.iter() { - let header_params = PrefilterParams { - prefilter_path: "".into(), - ..params.clone() - }; - let mut header = header.clone(); - header.insert( - "x-varfish-prefilter-params" - .parse() - .map_err(|e| anyhow::anyhow!("{}", e))?, - vcf::header::record::Value::from( - serde_json::to_string(&header_params) - .map_err(|e| anyhow::anyhow!("failed to serialize params: {}", e))?, - ), - )?; - - out_path_helpers.push(crate::common::s3::OutputPathHelper::new( - ¶ms.prefilter_path, - )?); - let mut writer = - open_vcf_writer(out_path_helpers.last().expect("just pushed").path_out()).await?; - writer.write_header(&header).await.map_err(|e| { - anyhow::anyhow!( - "could not write header to {}: {}", + let output_headers = { + let mut output_headers = Vec::new(); + for params in params_list.iter() { + let header_params = PrefilterParams { + prefilter_path: "".into(), + ..params.clone() + }; + let mut header = header.clone(); + header.insert( + "x-varfish-prefilter-params" + .parse() + .map_err(|e| anyhow::anyhow!("{}", e))?, + vcf::header::record::Value::from( + serde_json::to_string(&header_params) + .map_err(|e| anyhow::anyhow!("failed to serialize params: {}", e))?, + ), + )?; + + out_path_helpers.push(crate::common::s3::OutputPathHelper::new( ¶ms.prefilter_path, - e - ) - })?; - output_writers.push(writer); - } + )?); + let mut writer = + open_vcf_writer(out_path_helpers.last().expect("just pushed").path_out()) + .await?; + writer.write_header(&header).await.map_err(|e| { + anyhow::anyhow!( + "could not write header to {}: {}", + ¶ms.prefilter_path, + e + ) + })?; + output_writers.push(writer); + output_headers.push(header); + } + output_headers + }; common::trace_rss_now(); tracing::info!("starting filtration..."); - run_filtration(&mut reader, &header, &mut output_writers, ¶ms_list).await?; + run_filtration( + &mut reader, + &header, + &mut output_writers, + &output_headers, + ¶ms_list, + ) + .await?; tracing::info!("... done with filtration"); for output_writer in output_writers.drain(..) { @@ -259,7 +274,7 @@ pub async fn run(args_common: &crate::common::Args, args: &Args) -> Result<(), a out_path_helper.create_tbi_for_bgzf().await?; out_path_helper.upload_for_s3().await?; } - } + }; tracing::info!( "All of `seqvars prefilter` completed in {:?}", diff --git a/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__single_output_arg.snap b/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__single_output_arg.snap index 836d1e5b..048a4f6b 100644 --- a/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__single_output_arg.snap +++ b/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__single_output_arg.snap @@ -56,5 +56,5 @@ expression: "std::fs::read_to_string(format!(\"{}/out-1.vcf\",\n tmpd ##x-varfish-version= ##x-varfish-prefilter-params={"prefilter_path":"","max_freq":0.01,"max_exon_dist":200} #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Case_1_father-N1-DNA1-WGS1 Case_1_index-N1-DNA1-WGS1 Case_1_mother-N1-DNA1-WGS1 -17 41210126 . C CTAGCACTT . . gnomad_exomes_an=31272;gnomad_exomes_hom=0;gnomad_exomes_het=85;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|18/22|c.5194-975_5194-974insAAGTGCTA|p.?|5307/7088|5194/5592||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|17/21|c.5053-975_5053-974insAAGTGCTA|p.?|5247/7028|5053/5451||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|18/21|c.1882-975_1882-974insAAGTGCTA|p.?|1989/3696|1882/2100||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|19/23|c.5257-975_5257-974insAAGTGCTA|p.?|5370/7151|5257/5655||-974| GT:AD:DP:GQ 0/0:29:29:87 0/1:23:36:99 0/1:15:32:99 -MT 750 . A G . . . GT:AD:DP:GQ 1/1:0:2757:99 1/1:0:2392:99 1/1:0:1621:99 +17 41210126 . C CTAGCACTT . . gnomad_exomes_an=31272;gnomad_exomes_hom=0;gnomad_exomes_het=85;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|18/22|c.5194-975_5194-974insAAGTGCTA|p.?|5307/7088|5194/5592||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|17/21|c.5053-975_5053-974insAAGTGCTA|p.?|5247/7028|5053/5451||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|18/21|c.1882-975_1882-974insAAGTGCTA|p.?|1989/3696|1882/2100||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|19/23|c.5257-975_5257-974insAAGTGCTA|p.?|5370/7151|5257/5655||-974| GT:AD:DP:GQ /0/0:29:29:87 /0/1:23:36:99 /0/1:15:32:99 +MT 750 . A G . . . GT:AD:DP:GQ /1/1:0:2757:99 /1/1:0:2392:99 /1/1:0:1621:99 diff --git a/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__single_output_file.snap b/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__single_output_file.snap index 836d1e5b..048a4f6b 100644 --- a/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__single_output_file.snap +++ b/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__single_output_file.snap @@ -56,5 +56,5 @@ expression: "std::fs::read_to_string(format!(\"{}/out-1.vcf\",\n tmpd ##x-varfish-version= ##x-varfish-prefilter-params={"prefilter_path":"","max_freq":0.01,"max_exon_dist":200} #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Case_1_father-N1-DNA1-WGS1 Case_1_index-N1-DNA1-WGS1 Case_1_mother-N1-DNA1-WGS1 -17 41210126 . C CTAGCACTT . . gnomad_exomes_an=31272;gnomad_exomes_hom=0;gnomad_exomes_het=85;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|18/22|c.5194-975_5194-974insAAGTGCTA|p.?|5307/7088|5194/5592||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|17/21|c.5053-975_5053-974insAAGTGCTA|p.?|5247/7028|5053/5451||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|18/21|c.1882-975_1882-974insAAGTGCTA|p.?|1989/3696|1882/2100||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|19/23|c.5257-975_5257-974insAAGTGCTA|p.?|5370/7151|5257/5655||-974| GT:AD:DP:GQ 0/0:29:29:87 0/1:23:36:99 0/1:15:32:99 -MT 750 . A G . . . GT:AD:DP:GQ 1/1:0:2757:99 1/1:0:2392:99 1/1:0:1621:99 +17 41210126 . C CTAGCACTT . . gnomad_exomes_an=31272;gnomad_exomes_hom=0;gnomad_exomes_het=85;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|18/22|c.5194-975_5194-974insAAGTGCTA|p.?|5307/7088|5194/5592||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|17/21|c.5053-975_5053-974insAAGTGCTA|p.?|5247/7028|5053/5451||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|18/21|c.1882-975_1882-974insAAGTGCTA|p.?|1989/3696|1882/2100||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|19/23|c.5257-975_5257-974insAAGTGCTA|p.?|5370/7151|5257/5655||-974| GT:AD:DP:GQ /0/0:29:29:87 /0/1:23:36:99 /0/1:15:32:99 +MT 750 . A G . . . GT:AD:DP:GQ /1/1:0:2757:99 /1/1:0:2392:99 /1/1:0:1621:99 diff --git a/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__two_output_arg-2.snap b/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__two_output_arg-2.snap index 2bfa2706..9dcd052f 100644 --- a/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__two_output_arg-2.snap +++ b/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__two_output_arg-2.snap @@ -56,4 +56,4 @@ expression: "std::fs::read_to_string(format!(\"{}/out-2.vcf\",\n tmpd ##x-varfish-version= ##x-varfish-prefilter-params={"prefilter_path":"","max_freq":0.0,"max_exon_dist":20} #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Case_1_father-N1-DNA1-WGS1 Case_1_index-N1-DNA1-WGS1 Case_1_mother-N1-DNA1-WGS1 -MT 750 . A G . . . GT:AD:DP:GQ 1/1:0:2757:99 1/1:0:2392:99 1/1:0:1621:99 +MT 750 . A G . . . GT:AD:DP:GQ /1/1:0:2757:99 /1/1:0:2392:99 /1/1:0:1621:99 diff --git a/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__two_output_arg.snap b/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__two_output_arg.snap index 836d1e5b..048a4f6b 100644 --- a/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__two_output_arg.snap +++ b/src/seqvars/prefilter/snapshots/varfish_server_worker__seqvars__prefilter__test__two_output_arg.snap @@ -56,5 +56,5 @@ expression: "std::fs::read_to_string(format!(\"{}/out-1.vcf\",\n tmpd ##x-varfish-version= ##x-varfish-prefilter-params={"prefilter_path":"","max_freq":0.01,"max_exon_dist":200} #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Case_1_father-N1-DNA1-WGS1 Case_1_index-N1-DNA1-WGS1 Case_1_mother-N1-DNA1-WGS1 -17 41210126 . C CTAGCACTT . . gnomad_exomes_an=31272;gnomad_exomes_hom=0;gnomad_exomes_het=85;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|18/22|c.5194-975_5194-974insAAGTGCTA|p.?|5307/7088|5194/5592||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|17/21|c.5053-975_5053-974insAAGTGCTA|p.?|5247/7028|5053/5451||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|18/21|c.1882-975_1882-974insAAGTGCTA|p.?|1989/3696|1882/2100||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|19/23|c.5257-975_5257-974insAAGTGCTA|p.?|5370/7151|5257/5655||-974| GT:AD:DP:GQ 0/0:29:29:87 0/1:23:36:99 0/1:15:32:99 -MT 750 . A G . . . GT:AD:DP:GQ 1/1:0:2757:99 1/1:0:2392:99 1/1:0:1621:99 +17 41210126 . C CTAGCACTT . . gnomad_exomes_an=31272;gnomad_exomes_hom=0;gnomad_exomes_het=85;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|18/22|c.5194-975_5194-974insAAGTGCTA|p.?|5307/7088|5194/5592||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|17/21|c.5053-975_5053-974insAAGTGCTA|p.?|5247/7028|5053/5451||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|18/21|c.1882-975_1882-974insAAGTGCTA|p.?|1989/3696|1882/2100||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|19/23|c.5257-975_5257-974insAAGTGCTA|p.?|5370/7151|5257/5655||-974| GT:AD:DP:GQ /0/0:29:29:87 /0/1:23:36:99 /0/1:15:32:99 +MT 750 . A G . . . GT:AD:DP:GQ /1/1:0:2757:99 /1/1:0:2392:99 /1/1:0:1621:99 diff --git a/src/seqvars/query/annonars.rs b/src/seqvars/query/annonars.rs index 56969048..dcf7f9d6 100644 --- a/src/seqvars/query/annonars.rs +++ b/src/seqvars/query/annonars.rs @@ -74,7 +74,7 @@ impl AnnonarsDbs { } let (clinvar_db, clinvar_meta) = open_rocksdb!( - "clinvar-minimal", + "clinvar", clinvar_minimal, "clinvar", "meta", @@ -195,7 +195,8 @@ impl Annotator { pub fn query_clinvar_minimal( &self, seqvar: &SequenceVariant, - ) -> Result, anyhow::Error> { + ) -> Result, anyhow::Error> + { let cf_data = self .annonars_dbs .clinvar_db diff --git a/src/seqvars/query/interpreter/clinvar.rs b/src/seqvars/query/interpreter/clinvar.rs index d81ba664..3971dac4 100644 --- a/src/seqvars/query/interpreter/clinvar.rs +++ b/src/seqvars/query/interpreter/clinvar.rs @@ -3,8 +3,6 @@ use crate::seqvars::query::{ schema::{CaseQuery, SequenceVariant}, }; -use annonars::pbs::clinvar::minimal::{ClinicalSignificance, ClinicalSignificance::*}; - /// Determine whether the `SequenceVariant` passes the clinvar filter. pub fn passes( query: &CaseQuery, @@ -19,33 +17,70 @@ pub fn passes( .query_clinvar_minimal(seqvar) .map_err(|e| anyhow::anyhow!("problem querying clinvar-minimal: {}", e))? { - if let Some(assertion) = record.reference_assertions.first() { - let clinical_significance: ClinicalSignificance = assertion - .clinical_significance - .try_into() - .map_err(|e| anyhow::anyhow!("could not convert clinical significance: {}", e))?; - let result = match clinical_significance { - Benign => query.clinvar_include_benign, - LikelyBenign => query.clinvar_include_likely_benign, - UncertainSignificance => query.clinvar_include_uncertain_significance, - LikelyPathogenic => query.clinvar_include_likely_pathogenic, - Pathogenic => query.clinvar_include_pathogenic, - Unknown => false, - }; - if !result { - tracing::trace!( - "variant {:?} fails clinvar filter from query {:?}", + if record.records.is_empty() { + tracing::error!( + "variant {:?} found with empty list in ClinVar (should not happen", + seqvar + ); + return Ok(false); + } else if record.records.len() > 1 { + tracing::warn!( + "variant {:?} found list with {} entries, using first", + seqvar, + record.records.len() + ); + } + let vcv_record = &record.records[0]; + + let description = vcv_record + .classifications + .as_ref() + .and_then(|c| c.germline_classification.as_ref()) + .and_then(|c| c.description.as_ref()) + .cloned() + .unwrap_or_default(); + + let result = match description.to_lowercase().as_str() { + "benign" => query.clinvar_include_benign, + "benign/likely benign" => { + query.clinvar_include_benign || query.clinvar_include_likely_benign + } + "likely benign" => query.clinvar_include_likely_benign, + "pathogenic" => query.clinvar_include_pathogenic, + "pathogenic/likely pathogenic" => { + query.clinvar_include_pathogenic || query.clinvar_include_likely_pathogenic + } + "likely pathogenic" => query.clinvar_include_likely_pathogenic, + "uncertain significance" => query.clinvar_include_uncertain_significance, + "conflicting classifications of pathogenicity" => { + query.clinvar_include_uncertain_significance + } + _ => { + // We could also downtone this to debug. + tracing::warn!( + "variant {:?} has unknown classification: {}", seqvar, - query + description ); + false } - Ok(result) - } else { - unreachable!("no reference clinvar assertion") + }; + + if !result { + tracing::trace!( + "variant {:?} present in ClinVar but fails clinvar filter from query {:?}", + seqvar, + query + ); } + + Ok(result) } else { - // Because of the annonars API, we currently need to swallow any error, - // as "not found" currently maps to an error. - Ok(true) + tracing::trace!( + "variant {:?} not present in ClinVar and thus fails filter query {:?}", + seqvar, + query + ); + Ok(false) } } diff --git a/src/seqvars/query/interpreter/frequency.rs b/src/seqvars/query/interpreter/frequency.rs index 75fe40b6..09b0936c 100644 --- a/src/seqvars/query/interpreter/frequency.rs +++ b/src/seqvars/query/interpreter/frequency.rs @@ -58,6 +58,7 @@ pub fn passes(query: &CaseQuery, s: &SequenceVariant) -> Result Result { tracing::trace!( - "sample {} in variant {:?} fails quality filter {:?}", + "sample {} (call_info={:?}) in variant {:?} fails quality filter {:?}", &sample_name, + &call_info, &seqvar, &quality_settings ); @@ -70,7 +72,8 @@ fn passes_for_sample( } let genotype = if let Some(genotype) = call_info.genotype.as_ref() { - match genotype.as_str() { + let genotype = strip_gt_leading_slash(genotype); + match genotype { "0/1" | "1/0" | "0|1" | "1|0" => Genotype::Het, "1/1" | "1|1" | "1" => Genotype::Hom, "0/0" | "0|0" | "0" => Genotype::Ref, @@ -217,6 +220,7 @@ mod test { } #[rstest] + #[allow(clippy::too_many_arguments)] // het, pass dp #[case( Some(10), // q_dp_het diff --git a/src/seqvars/query/mod.rs b/src/seqvars/query/mod.rs index 264d5f45..b4b6e2bf 100644 --- a/src/seqvars/query/mod.rs +++ b/src/seqvars/query/mod.rs @@ -12,11 +12,10 @@ use std::time::Instant; use clap::{command, Parser}; use ext_sort::LimitedBufferBuilder; use ext_sort::{ExternalSorter, ExternalSorterBuilder}; -use futures::TryStreamExt; use itertools::Itertools; -use mehari::common::noodles::open_vcf_reader; use mehari::annotate::seqvars::CHROM_TO_CHROM_NO; +use noodles::vcf; use rand_core::{RngCore, SeedableRng}; use thousands::Separable; use uuid::Uuid; @@ -24,6 +23,7 @@ use uuid::Uuid; use crate::common; use crate::seqvars::query::schema::GenotypeChoice; use crate::{common::trace_rss_now, common::GenomeRelease}; +use mehari::common::noodles::open_vcf_reader; use self::annonars::Annotator; use self::schema::CaseQuery; @@ -220,14 +220,20 @@ async fn run_query( .map(std::io::BufWriter::new) .map_err(|e| anyhow::anyhow!("could not create temporary unsorted file: {}", e))?; - let mut records = input_reader.records(&input_header); - while let Some(input_record) = records - .try_next() - .await - .map_err(|e| anyhow::anyhow!("could not read VCF record: {}", e))? - { + let mut record_buf = vcf::variant::RecordBuf::default(); + loop { + let bytes_read = input_reader + .read_record_buf(&input_header, &mut record_buf) + .await + .map_err(|e| { + anyhow::anyhow!("problem reading VCF file {}: {}", &args.path_input, e) + })?; + if bytes_read == 0 { + break; // EOF + } + stats.count_total += 1; - let record_seqvar = SequenceVariant::from_vcf(&input_record, &input_header) + let record_seqvar = SequenceVariant::from_vcf(&record_buf, &input_header) .map_err(|e| anyhow::anyhow!("could not parse VCF record: {}", e))?; tracing::debug!("processing record {:?}", record_seqvar); diff --git a/src/seqvars/query/output/call_related.rs b/src/seqvars/query/output/call_related.rs index 2e6aa5dd..e9162120 100644 --- a/src/seqvars/query/output/call_related.rs +++ b/src/seqvars/query/output/call_related.rs @@ -27,7 +27,13 @@ impl Record { call_info.dp, call_info.ad, call_info.quality.map(|q| q as i32), - call_info.genotype.clone(), + call_info.genotype.as_ref().map(|s| { + if s.starts_with('|') || s.starts_with('/') { + s[1..].to_string() + } else { + s.to_string() + } + }), ), ) }) diff --git a/src/seqvars/query/output/variant_related.rs b/src/seqvars/query/output/variant_related.rs index 0294b9aa..8e18ba61 100644 --- a/src/seqvars/query/output/variant_related.rs +++ b/src/seqvars/query/output/variant_related.rs @@ -1,6 +1,6 @@ //! Variant-related information. -use annonars::pbs::clinvar::minimal::{ClinicalSignificance, ReviewStatus}; +use annonars::pbs::clinvar_data::clinvar_public::AggregateGermlineReviewStatus; use crate::seqvars::query::{ annonars::Annotator, @@ -291,12 +291,10 @@ impl DbIds { pub struct Clinvar { /// The VCV accession. pub vcv: String, - /// The RCV accession. - pub rcv: String, /// The clinical significance. - pub significance: String, + pub germline_significance_description: String, /// The review status. - pub review_status: String, + pub germline_review_status: AggregateGermlineReviewStatus, } impl Clinvar { @@ -305,63 +303,64 @@ impl Clinvar { seqvar: &SequenceVariant, annotator: &Annotator, ) -> Result, anyhow::Error> { - annotator + let record = annotator .query_clinvar_minimal(seqvar) - .map_err(|e| anyhow::anyhow!("problem querying clinvar-minimal: {}", e))? - .map(|record| { - if let Some(assertion) = record.reference_assertions.first() { - let annonars::pbs::clinvar::minimal::ReferenceAssertion { - rcv, - clinical_significance, - review_status, - .. - } = assertion; - Ok(Self { - vcv: record.vcv.clone(), - rcv: rcv.clone(), - significance: match ClinicalSignificance::try_from(*clinical_significance) - .map_err(|e| { - anyhow::anyhow!("could not convert clinical significance: {}", e) - })? { - ClinicalSignificance::Unknown => "UNKNOWN", - ClinicalSignificance::Pathogenic => "Pathogenic", - ClinicalSignificance::LikelyPathogenic => "Likely pathogenic", - ClinicalSignificance::UncertainSignificance => "Uncertain significance", - ClinicalSignificance::LikelyBenign => "Likely benign", - ClinicalSignificance::Benign => "Benign", - } - .into(), - review_status: match ReviewStatus::try_from(*review_status).map_err( - |e| anyhow::anyhow!("could not convert review status: {}", e), - )? { - ReviewStatus::PracticeUnknown => "UNKNOWN", - ReviewStatus::PracticeGuideline => "practice guideline", - ReviewStatus::ReviewedByExpertPanel => "reviewed by expert panel", - ReviewStatus::CriteriaProvidedMultipleSubmittersNoConflicts => { - "criteria provided, multiple submitters, no conflicts" - } - ReviewStatus::CriteriaProvidedSingleSubmitter => { - "criteria provided, single submitter" - } - ReviewStatus::CriteriaProvidedConflictingInterpretations => { - "criteria provided, conflicting interpretations" - } - ReviewStatus::NoAssertionCriteriaProvided => { - "no assertion criteria provided" - } - ReviewStatus::NoAssertionProvided => "no assertion provided", - ReviewStatus::FlaggedSubmission => "flagged submission", - ReviewStatus::NoClassificationsFromUnflaggedRecords => { - "no classifications from unflagged records" - } - } - .into(), - }) + .map_err(|e| anyhow::anyhow!("problem querying clinvar-minimal: {}", e))?; + if let Some(record) = record.as_ref() { + if record.records.is_empty() { + tracing::error!( + "variant {:?} found with empty list in ClinVar (should not happen)", + seqvar + ); + return Ok(None); + } else if record.records.len() > 1 { + tracing::warn!( + "variant {:?} found list with {} entries, using first", + seqvar, + record.records.len() + ); + } + let vcv_record = &record.records[0]; + let accession = vcv_record.accession.as_ref().expect("no accession?"); + let vcv = format!("{}.{}", &accession.accession, accession.version); + + if let Some(agc) = vcv_record + .classifications + .as_ref() + .and_then(|c| c.germline_classification.as_ref()) + { + let germline_significance_description = if let Some(description) = + agc.description.as_ref() + { + description.clone() } else { - unreachable!("no reference clinvar assertion") - } - }) - .transpose() + tracing::error!("variant {:?} has germline classification without description (should not happen)", &seqvar); + return Ok(None); + }; + let germline_review_status = if let Ok(review_status) = + AggregateGermlineReviewStatus::try_from(agc.review_status) + { + review_status + } else { + tracing::error!("variant {:?} has germline classification with invalid review status (should not happen)", &seqvar); + return Ok(None); + }; + + Ok(Some(Self { + vcv, + germline_significance_description, + germline_review_status, + })) + } else { + tracing::trace!( + "variant {:?} has no germline classification (likely somatic only)", + &seqvar + ); + Ok(None) + } + } else { + Ok(None) + } } } diff --git a/src/seqvars/query/schema.rs b/src/seqvars/query/schema.rs index d164eed8..95aed060 100644 --- a/src/seqvars/query/schema.rs +++ b/src/seqvars/query/schema.rs @@ -1,6 +1,8 @@ //! Supporting code for seqvar query definition. -use noodles_vcf as vcf; +use noodles::vcf; + +use crate::common::genotype_to_string; /// Enumeration for recessive mode queries. #[derive( @@ -94,6 +96,11 @@ impl GenotypeChoice { /// The valid genotype strings have the form "/", "|" or /// "" with "" being one of "0", "1", and ".". pub fn matches(&self, gt_str: &str) -> Result { + let gt_str = if gt_str.starts_with('/') || gt_str.starts_with('|') { + >_str[1..] + } else { + gt_str + }; Ok(match self { GenotypeChoice::Any => true, GenotypeChoice::Ref => ["0", "0|0", "0/0"].contains(>_str), @@ -198,6 +205,8 @@ pub struct CaseQuery { pub clinvar_include_likely_pathogenic: bool, /// Whether to include uncertain significance ClinVar variants. pub clinvar_include_uncertain_significance: bool, + /// Whether to include conflicting interpretation ClinVar variants. + pub clinvar_include_conflicting_classifications: bool, /// Whether to enable filtration by gnomAD exomes. pub gnomad_exomes_enabled: bool, @@ -268,6 +277,7 @@ impl Default for CaseQuery { clinvar_include_likely_benign: true, clinvar_include_likely_pathogenic: true, clinvar_include_uncertain_significance: true, + clinvar_include_conflicting_classifications: true, gnomad_exomes_frequency: Default::default(), gnomad_exomes_heterozygous: Default::default(), gnomad_exomes_homozygous: Default::default(), @@ -388,13 +398,22 @@ pub struct SequenceVariant { impl SequenceVariant { /// Convert from VCF record. - pub fn from_vcf(record: &vcf::Record, header: &vcf::Header) -> Result { - let chrom = record.chromosome().to_string(); - let pos: usize = record.position().into(); + pub fn from_vcf( + record: &vcf::variant::RecordBuf, + header: &vcf::Header, + ) -> Result { + let chrom = record.reference_sequence_name().to_string(); + let pos: usize = record.variant_start().expect("empty variant_start?").into(); let pos = pos as i32; let reference = record.reference_bases().to_string(); - let alternative = record.alternate_bases()[0].to_string(); + let alternative = record + .alternate_bases() + .as_ref() + .iter() + .next() + .expect("no alternate base?") + .to_string(); let call_info = Self::build_call_info(record, header)?; let ann_fields = Self::extract_ann_fields(record)?; @@ -414,48 +433,49 @@ impl SequenceVariant { /// Build call information. fn build_call_info( - record: &vcf::Record, + record: &vcf::variant::RecordBuf, header: &vcf::Header, ) -> Result, anyhow::Error> { + use vcf::variant::record::samples::keys::key; let mut result = indexmap::IndexMap::new(); - for (name, sample) in header - .sample_names() - .iter() - .zip(record.genotypes().values()) - { - let genotype = if let Some(Some(vcf::record::genotypes::sample::Value::String(gt))) = - sample.get(&vcf::record::genotypes::keys::key::GENOTYPE) + for (name, sample) in header.sample_names().iter().zip(record.samples().values()) { + let genotype = if let Some(Some( + vcf::variant::record_buf::samples::sample::value::Value::Genotype(gt), + )) = sample.get(key::GENOTYPE) { - Some(gt.clone()) + Some(genotype_to_string(>)?) } else { None }; - let quality = - if let Some(Some(vcf::record::genotypes::sample::Value::Integer(quality))) = - sample.get(&vcf::record::genotypes::keys::key::CONDITIONAL_GENOTYPE_QUALITY) - { - Some(*quality as f32) - } else { - None - }; - let dp = if let Some(Some(vcf::record::genotypes::sample::Value::Integer(dp))) = - sample.get(&vcf::record::genotypes::keys::key::READ_DEPTH) + let quality = if let Some(Some( + vcf::variant::record_buf::samples::sample::value::Value::Integer(quality), + )) = sample.get(key::CONDITIONAL_GENOTYPE_QUALITY) { - Some(*dp) + Some(*quality as f32) } else { None }; - let ad = if let Some(Some(vcf::record::genotypes::sample::Value::Array( - vcf::record::genotypes::sample::value::Array::Integer(ad), - ))) = sample.get(&vcf::record::genotypes::keys::key::READ_DEPTHS) + let dp = if let Some(Some( + vcf::variant::record_buf::samples::sample::value::Value::Integer(dp), + )) = sample.get(key::READ_DEPTH) { - Some(ad[1].expect("empty AD?")) + Some(*dp) } else { None }; - let phase_set = if let Some(Some(vcf::record::genotypes::sample::Value::Integer(id))) = - sample.get(&vcf::record::genotypes::keys::key::PHASE_SET) + let ad = + if let Some(Some(vcf::variant::record_buf::samples::sample::value::Value::Array( + vcf::variant::record_buf::samples::sample::value::Array::Integer(ad), + ))) = sample.get(key::READ_DEPTHS) + { + Some(ad[1].expect("empty AD?")) + } else { + None + }; + let phase_set = if let Some(Some( + vcf::variant::record_buf::samples::sample::value::Value::Integer(id), + )) = sample.get(key::PHASE_SET) { Some(*id) } else { @@ -479,15 +499,11 @@ impl SequenceVariant { /// Extract `INFO/ANN` entries fn extract_ann_fields( - record: &vcf::Record, + record: &vcf::variant::RecordBuf, ) -> Result, anyhow::Error> { - if let Some(Some(ann)) = record.info().get( - &"ANN" - .parse::() - .expect("invalid key INFO/ANN?"), - ) { - if let vcf::record::info::field::Value::Array( - vcf::record::info::field::value::Array::String(ann), + if let Some(Some(ann)) = record.info().get("ANN") { + if let vcf::variant::record_buf::info::field::Value::Array( + vcf::variant::record_buf::info::field::value::Array::String(ann), ) = ann { ann.iter() @@ -506,22 +522,18 @@ impl SequenceVariant { /// Copy the frequencies from `record` to `result`. fn with_freqs( result: SequenceVariant, - record: &vcf::Record, + record: &vcf::variant::RecordBuf, ) -> Result { - use vcf::record::info::field::Key; - use vcf::record::info::field::Value; + use vcf::variant::record_buf::info::field::Value; macro_rules! extract_key { ($key:ident) => { - let $key = if let Some(Some(Value::Integer($key))) = record.info().get( - &stringify!($key) - .parse::() - .expect(&format!("could not parse key: {:?}", stringify!($key))), - ) { - *$key - } else { - 0 - }; + let $key = + if let Some(Some(Value::Integer($key))) = record.info().get(stringify!($key)) { + *$key + } else { + 0 + }; }; } @@ -593,7 +605,7 @@ impl SequenceVariant { #[cfg(test)] pub mod test { - use noodles_vcf as vcf; + use noodles::vcf; use rstest::rstest; pub mod genotype_choice { @@ -647,16 +659,21 @@ pub mod test { #[case("tests/seqvars/query/Case_1.ingested.vcf")] #[case("tests/seqvars/query/dragen.ingested.vcf")] pub fn sequence_variant_from_vcf(#[case] path_input: &str) -> Result<(), anyhow::Error> { + use noodles::vcf::variant::RecordBuf; + mehari::common::set_snapshot_suffix!("{}", path_input.split('/').last().unwrap()); - let mut vcf_reader = vcf::reader::Builder::default() + let mut vcf_reader = vcf::io::reader::Builder::default() .build_from_path(path_input) .unwrap(); let header = vcf_reader.read_header()?; - for record in vcf_reader.records(&header) { + for record in vcf_reader.records() { let record = record?; - let seqvar = super::SequenceVariant::from_vcf(&record, &header)?; + let seqvar = super::SequenceVariant::from_vcf( + &RecordBuf::try_from_variant_record(&header, &record)?, + &header, + )?; insta::assert_yaml_snapshot!(&seqvar); } diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-10.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-10.snap index 9a60997d..36665ee3 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-10.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-10.snap @@ -137,19 +137,19 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 42 dp: 14 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 10 dp: 7 ad: 1 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 65 dp: 10 ad: 5 diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-11.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-11.snap index bb20b0c7..d7e46d39 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-11.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-11.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 3975 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2871 ad: 2871 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 3320 ad: 3320 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-12.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-12.snap index 4663df4f..a34b5fae 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-12.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-12.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 5418 ad: 1 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 4039 ad: 4039 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 4113 ad: 4112 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-13.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-13.snap index f431147a..2c29e43a 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-13.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-13.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 3069 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1721 ad: 1721 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2204 ad: 2204 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-14.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-14.snap index af347b0f..2dac26d7 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-14.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-14.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2599 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1592 ad: 1592 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1815 ad: 1815 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-15.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-15.snap index 33cd6396..03618eee 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-15.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-15.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2180 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1424 ad: 1424 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1304 ad: 1304 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-16.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-16.snap index 142f594b..fc95bcb6 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-16.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-16.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2115 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1408 ad: 1408 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1277 ad: 1277 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-17.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-17.snap index 8f6ebdfd..17016a3e 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-17.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-17.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1288 ad: 1288 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1204 ad: 1204 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1031 ad: 1031 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-18.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-18.snap index f429c5b7..d67debb3 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-18.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-18.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 99 dp: 844 ad: 687 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 1011 ad: 6 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 803 ad: 3 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-19.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-19.snap index 55494b5b..b31139fa 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-19.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-19.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1035 ad: 1035 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1411 ad: 1411 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1091 ad: 1090 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-2.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-2.snap index 39c9b4cc..890407f6 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-2.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-2.snap @@ -136,19 +136,19 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 75 dp: 25 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 99 dp: 28 ad: 14 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 99 dp: 40 ad: 21 diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-20.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-20.snap index a9d437de..3cf8636e 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-20.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-20.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2133 ad: 2129 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2267 ad: 1 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 1725 ad: 0 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-21.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-21.snap index 310a43b6..1838ec8f 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-21.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-21.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2494 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2186 ad: 2186 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1814 ad: 1813 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-22.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-22.snap index 11eb67dc..b51a4e7c 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-22.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-22.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2757 ad: 2757 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2392 ad: 2392 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1621 ad: 1621 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-23.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-23.snap index 52e88480..355a6d75 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-23.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-23.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2853 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2784 ad: 0 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 99 dp: 1898 ad: 547 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-24.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-24.snap index d02d8910..a2f6332a 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-24.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-24.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2675 ad: 1 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2198 ad: 2198 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1655 ad: 1655 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-25.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-25.snap index 889e4c1c..c9b51277 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-25.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-25.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 3815 ad: 3815 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 3653 ad: 3653 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2900 ad: 2900 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-26.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-26.snap index 2565a6d2..8d8f87a2 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-26.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-26.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2668 ad: 2668 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2409 ad: 0 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 1752 ad: 0 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-27.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-27.snap index 2b65e782..f6c463a6 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-27.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-27.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2535 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 99 dp: 2409 ad: 761 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2269 ad: 0 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-28.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-28.snap index 57c7e49f..85705b5b 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-28.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-28.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 3200 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2847 ad: 2847 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2020 ad: 2020 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-29.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-29.snap index cf412727..24f0ef6c 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-29.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-29.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2841 ad: 2841 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2385 ad: 0 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 1685 ad: 0 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-3.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-3.snap index af0bfb97..d734a796 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-3.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-3.snap @@ -136,19 +136,19 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 27 dp: 9 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 99 dp: 14 ad: 10 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 99 dp: 23 ad: 11 diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-30.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-30.snap index 307066a9..17777f22 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-30.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-30.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2594 ad: 14 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2363 ad: 2363 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1664 ad: 1664 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-31.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-31.snap index 2529f4a5..be13a9fc 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-31.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-31.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 99 dp: 2936 ad: 2456 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2504 ad: 0 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 1991 ad: 0 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-32.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-32.snap index d6b2b453..3b4f2f9d 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-32.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-32.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2689 ad: 2689 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2549 ad: 2549 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2108 ad: 2108 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-33.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-33.snap index 831dd047..5deca81c 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-33.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-33.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2878 ad: 2 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2466 ad: 2466 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1661 ad: 1661 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-34.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-34.snap index 4de50be9..71d56608 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-34.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-34.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2907 ad: 2 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2759 ad: 2759 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1970 ad: 1968 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-35.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-35.snap index 523e380f..61bed043 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-35.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-35.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2580 ad: 3 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2203 ad: 2201 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1946 ad: 1945 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-36.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-36.snap index 648b8eb2..db47d34a 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-36.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-36.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 3589 ad: 1 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 3465 ad: 3465 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2746 ad: 2746 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-37.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-37.snap index c9ced7c0..4db0bcf1 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-37.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-37.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2052 ad: 1 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2257 ad: 2257 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1774 ad: 1774 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-38.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-38.snap index 5760a179..b9d7cd32 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-38.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-38.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2360 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2317 ad: 2317 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1625 ad: 1624 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-39.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-39.snap index ec318992..7f7ea042 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-39.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-39.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 3278 ad: 3278 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 3088 ad: 3088 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2241 ad: 2241 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-4.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-4.snap index a7110d64..1425d851 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-4.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-4.snap @@ -136,19 +136,19 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 27 dp: 9 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 42 dp: 14 ad: 0 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 99 dp: 22 ad: 11 diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-40.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-40.snap index f8af2345..114acae2 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-40.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-40.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2793 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2368 ad: 2368 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1918 ad: 1917 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-41.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-41.snap index c516bb7b..d2d6673d 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-41.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-41.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2959 ad: 2959 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2442 ad: 0 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 1735 ad: 0 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-42.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-42.snap index 3a947c58..3d343365 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-42.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-42.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 3163 ad: 3163 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 3538 ad: 0 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2767 ad: 0 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-43.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-43.snap index b6ee84c9..c92f309c 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-43.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-43.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 3321 ad: 3320 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 3222 ad: 0 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2547 ad: 0 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-44.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-44.snap index 5b3965a6..fe0fc8ec 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-44.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-44.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2660 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 99 dp: 2188 ad: 508 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 1851 ad: 0 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-45.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-45.snap index d7a3d490..a0b81a19 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-45.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-45.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 3173 ad: 5 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2922 ad: 2922 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2418 ad: 2418 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-46.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-46.snap index f752c0c4..42f6be42 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-46.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-46.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2890 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2666 ad: 2666 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2180 ad: 2179 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-47.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-47.snap index a908c454..2e49a8ca 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-47.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-47.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 3341 ad: 2 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 3052 ad: 3052 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2203 ad: 2203 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-48.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-48.snap index 4230ce2e..880f3034 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-48.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-48.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2581 ad: 2 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2273 ad: 2273 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1804 ad: 1804 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-49.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-49.snap index f6dbe51e..dbefc573 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-49.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-49.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2855 ad: 3 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2546 ad: 2545 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1733 ad: 1733 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-5.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-5.snap index e33d1297..d984ad0e 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-5.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-5.snap @@ -136,19 +136,19 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 79 dp: 9 ad: 6 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 42 dp: 14 ad: 0 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 66 dp: 22 ad: 0 diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-50.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-50.snap index 1c4be3ce..7601069d 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-50.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-50.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 1813 ad: 1 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1664 ad: 1662 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1781 ad: 1777 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-51.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-51.snap index a3fb78f1..a52cb702 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-51.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-51.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2369 ad: 10 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2138 ad: 2137 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1622 ad: 1621 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-52.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-52.snap index 65aee969..7b707647 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-52.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-52.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2540 ad: 1 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2216 ad: 0 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 99 dp: 1957 ad: 733 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-53.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-53.snap index 50a65e0f..0c3acda8 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-53.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-53.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 3840 ad: 2 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 3717 ad: 3717 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2835 ad: 2834 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-54.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-54.snap index 5aae45c8..71e1d605 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-54.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-54.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 2947 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2700 ad: 2700 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1880 ad: 1880 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-55.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-55.snap index 67f9dfb2..c29511b9 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-55.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-55.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 3021 ad: 2 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2820 ad: 2820 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1962 ad: 1962 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-56.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-56.snap index e5034b92..83967ff7 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-56.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-56.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 3321 ad: 3 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 3113 ad: 3111 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2358 ad: 2355 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-57.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-57.snap index 40e96f9a..6ada0254 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-57.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-57.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 3716 ad: 3716 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 3560 ad: 3560 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2690 ad: 2690 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-58.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-58.snap index da93858a..50c77c08 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-58.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-58.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 3596 ad: 1 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 3167 ad: 3167 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2734 ad: 2733 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-59.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-59.snap index 3f6ee55a..b46830b2 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-59.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-59.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 1407 ad: 1 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1969 ad: 1969 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1478 ad: 1478 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-6.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-6.snap index 5ecfbd9f..bcb1bf6d 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-6.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-6.snap @@ -136,19 +136,19 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 78 dp: 9 ad: 3 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 98 dp: 14 ad: 4 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 67 dp: 22 ad: 0 diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-60.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-60.snap index 733bc601..b00b1ebf 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-60.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-60.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 1406 ad: 1 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 2018 ad: 2018 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1472 ad: 1472 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-61.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-61.snap index 8e83474f..3e9166af 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-61.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-61.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1478 ad: 1476 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 1994 ad: 0 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 1475 ad: 0 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-62.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-62.snap index dc5dd74e..8f0b026e 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-62.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-62.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 1652 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1914 ad: 1913 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1476 ad: 1476 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-63.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-63.snap index d27eab90..b808c18f 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-63.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-63.snap @@ -24,21 +24,20 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1759 ad: 1759 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 4094 ad: 4094 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 1744 ad: 1744 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-7.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-7.snap index 394dac20..bf10b080 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-7.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-7.snap @@ -136,19 +136,19 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 45 ad: 45 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 1/0 + genotype: /1/0 quality: 99 dp: 33 ad: 17 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 1/0 + genotype: /1/0 quality: 99 dp: 33 ad: 11 diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-8.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-8.snap index b52e0bd5..56ef91a1 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-8.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-8.snap @@ -136,19 +136,19 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 45 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 99 dp: 33 ad: 16 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 99 dp: 33 ad: 21 diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-9.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-9.snap index 1a2f746b..0eb11c73 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-9.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf-9.snap @@ -136,19 +136,19 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 66 dp: 37 ad: 8 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: "./." + genotype: /./. quality: ~ dp: ~ ad: ~ phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 47 dp: 35 ad: 3 diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf.snap index cb3de38c..29c4ab48 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@Case_1.ingested.vcf.snap @@ -148,19 +148,19 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: Case_1_father-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 52 ad: 0 phasing_id: ~ Case_1_index-N1-DNA1-WGS1: - genotype: 0/0 + genotype: /0/0 quality: 99 dp: 46 ad: 0 phasing_id: ~ Case_1_mother-N1-DNA1-WGS1: - genotype: 0/1 + genotype: /0/1 quality: 99 dp: 42 ad: 21 diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@dragen.ingested.vcf-2.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@dragen.ingested.vcf-2.snap index 217c4c06..7b3a05a8 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@dragen.ingested.vcf-2.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@dragen.ingested.vcf-2.snap @@ -24,9 +24,8 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: CASE: - genotype: 1/1 + genotype: /1/1 quality: 99 dp: 35 ad: 35 phasing_id: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@dragen.ingested.vcf.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@dragen.ingested.vcf.snap index 65a0c7fb..a08c5ac4 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@dragen.ingested.vcf.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__sequence_variant_from_vcf@dragen.ingested.vcf.snap @@ -136,7 +136,7 @@ inhouse_het: 0 inhouse_hemi: 0 call_info: CASE: - genotype: 1|1 + genotype: "|1|1" quality: 99 dp: 80 ad: 80 diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__smoke_test_load@empty.json.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__smoke_test_load@empty.json.snap index 908a0a7f..12e9ccab 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__smoke_test_load@empty.json.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__smoke_test_load@empty.json.snap @@ -68,6 +68,7 @@ clinvar_include_pathogenic: true clinvar_include_likely_benign: true clinvar_include_likely_pathogenic: true clinvar_include_uncertain_significance: true +clinvar_include_conflicting_classifications: true gnomad_exomes_enabled: false gnomad_genomes_enabled: false inhouse_enabled: false @@ -87,4 +88,3 @@ inhouse_hemizygous: ~ helixmtdb_frequency: ~ helixmtdb_heteroplasmic: ~ helixmtdb_homoplasmic: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__smoke_test_load@full.json.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__smoke_test_load@full.json.snap index 8b93af25..9e20bcc8 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__smoke_test_load@full.json.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__smoke_test_load@full.json.snap @@ -77,6 +77,7 @@ clinvar_include_pathogenic: true clinvar_include_likely_benign: false clinvar_include_likely_pathogenic: true clinvar_include_uncertain_significance: false +clinvar_include_conflicting_classifications: true gnomad_exomes_enabled: true gnomad_genomes_enabled: true inhouse_enabled: true @@ -96,4 +97,3 @@ inhouse_hemizygous: ~ helixmtdb_frequency: 0.01 helixmtdb_heteroplasmic: ~ helixmtdb_homoplasmic: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__smoke_test_load@with_extra.json.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__smoke_test_load@with_extra.json.snap index 8b93af25..9e20bcc8 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__smoke_test_load@with_extra.json.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__schema__test__smoke_test_load@with_extra.json.snap @@ -77,6 +77,7 @@ clinvar_include_pathogenic: true clinvar_include_likely_benign: false clinvar_include_likely_pathogenic: true clinvar_include_uncertain_significance: false +clinvar_include_conflicting_classifications: true gnomad_exomes_enabled: true gnomad_genomes_enabled: true inhouse_enabled: true @@ -96,4 +97,3 @@ inhouse_hemizygous: ~ helixmtdb_frequency: 0.01 helixmtdb_heteroplasmic: ~ helixmtdb_homoplasmic: ~ - diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__test__smoke_test@Case_1.ingested.vcf.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__test__smoke_test@Case_1.ingested.vcf.snap index ff9a75f9..94e6a007 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__test__smoke_test@Case_1.ingested.vcf.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__test__smoke_test@Case_1.ingested.vcf.snap @@ -3,7 +3,7 @@ source: src/seqvars/query/mod.rs expression: "std::fs::read_to_string(args.path_output.as_str())?" --- sodar_uuid release chromosome chromosome_no reference alternative bin start end smallvariantqueryresultset_id payload -a2242722-6377-cc86-7d51-ad3f130af08a GRCh37 17 17 G A 899 41249263 41249263 . {"case_uuid":"00000000-0000-0000-0000-000000000000","gene_related":{"identity":{"hgnc_id":"HGNC:1100","hgnc_symbol":"BRCA1"},"consequences":{"hgvs_t":"c.591C>T","hgvs_p":"p.C197=","consequences":["splice_region_variant","synonymous_variant"]},"phenotype":{"is_acmg_sf":true,"is_disease_gene":true},"constraints":{"gnomad_mis_z":2.3217,"gnomad_oe_lof":0.76716,"gnomad_oe_lof_lower":0.666,"gnomad_oe_lof_upper":0.885,"gnomad_oe_mis":0.86592,"gnomad_oe_mis_lower":0.833,"gnomad_oe_mis_upper":0.899,"gnomad_pli":1.4282e-34,"gnomad_syn_z":2.6589}},"variant_related":{"precomputed_scores":{"PHRED":17.97,"spliceai":0.13,"spliceai_argmax":"SpliceAI-don-loss"},"db_ids":{"dbsnp_rs":"rs1799965"},"clinvar":{"vcv":"VCV000055642","rcv":"RCV000112746","significance":"Benign","review_status":"reviewed by expert panel"},"frequency":{"gnomad_mtdna":{"allele_freq":0.0014683411,"allele_count":251304,"het_carriers":369,"hom_carriers":0}}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":52,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":46,"ad":0,"gq":99,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":42,"ad":21,"gq":99,"gt":"0/1"}}}} +a2242722-6377-cc86-7d51-ad3f130af08a GRCh37 17 17 G A 899 41249263 41249263 . {"case_uuid":"00000000-0000-0000-0000-000000000000","gene_related":{"identity":{"hgnc_id":"HGNC:1100","hgnc_symbol":"BRCA1"},"consequences":{"hgvs_t":"c.591C>T","hgvs_p":"p.C197=","consequences":["splice_region_variant","synonymous_variant"]},"phenotype":{"is_acmg_sf":true,"is_disease_gene":true},"constraints":{"gnomad_mis_z":2.3217,"gnomad_oe_lof":0.76716,"gnomad_oe_lof_lower":0.666,"gnomad_oe_lof_upper":0.885,"gnomad_oe_mis":0.86592,"gnomad_oe_mis_lower":0.833,"gnomad_oe_mis_upper":0.899,"gnomad_pli":1.4282e-34,"gnomad_syn_z":2.6589}},"variant_related":{"precomputed_scores":{"PHRED":17.97,"spliceai":0.13,"spliceai_argmax":"SpliceAI-don-loss"},"db_ids":{"dbsnp_rs":"rs1799965"},"clinvar":{"vcv":"VCV000055642.108","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_REVIEWED_BY_EXPERT_PANEL"},"frequency":{"gnomad_mtdna":{"allele_freq":0.0014683411,"allele_count":251304,"het_carriers":369,"hom_carriers":0}}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":52,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":46,"ad":0,"gq":99,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":42,"ad":21,"gq":99,"gt":"0/1"}}}} d13451de-7160-efa2-b230-76fd782de967 GRCh37 17 17 T C 899 41252332 41252332 . {"case_uuid":"00000000-0000-0000-0000-000000000000","gene_related":{"identity":{"hgnc_id":"HGNC:1100","hgnc_symbol":"BRCA1"},"consequences":{"hgvs_t":"c.442-435A>G","hgvs_p":"p.?","consequences":["intron_variant"]},"phenotype":{"is_acmg_sf":true,"is_disease_gene":true},"constraints":{"gnomad_mis_z":2.3217,"gnomad_oe_lof":0.76716,"gnomad_oe_lof_lower":0.666,"gnomad_oe_lof_upper":0.885,"gnomad_oe_mis":0.86592,"gnomad_oe_mis_lower":0.833,"gnomad_oe_mis_upper":0.899,"gnomad_pli":1.4282e-34,"gnomad_syn_z":2.6589}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":25,"ad":0,"gq":75,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":28,"ad":14,"gq":99,"gt":"0/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":40,"ad":21,"gq":99,"gt":"0/1"}}}} ea9f11f8-dfb0-ca08-a881-0f9ea39c3a6a GRCh37 17 17 ATATAAT A 899 41252691 41252697 . {"case_uuid":"00000000-0000-0000-0000-000000000000","gene_related":{"identity":{"hgnc_id":"HGNC:1100","hgnc_symbol":"BRCA1"},"consequences":{"hgvs_t":"c.442-800_442-795delATTATA","hgvs_p":"p.?","consequences":["intron_variant"]},"phenotype":{"is_acmg_sf":true,"is_disease_gene":true},"constraints":{"gnomad_mis_z":2.3217,"gnomad_oe_lof":0.76716,"gnomad_oe_lof_lower":0.666,"gnomad_oe_lof_upper":0.885,"gnomad_oe_mis":0.86592,"gnomad_oe_mis_lower":0.833,"gnomad_oe_mis_upper":0.899,"gnomad_pli":1.4282e-34,"gnomad_syn_z":2.6589}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":9,"ad":0,"gq":27,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":14,"ad":10,"gq":99,"gt":"0/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":23,"ad":11,"gq":99,"gt":"0/1"}}}} fb780859-e8d8-c7bc-37b7-8e2f9b8d68d9 GRCh37 17 17 ATAAT A 899 41252693 41252697 . {"case_uuid":"00000000-0000-0000-0000-000000000000","gene_related":{"identity":{"hgnc_id":"HGNC:1100","hgnc_symbol":"BRCA1"},"consequences":{"hgvs_t":"c.442-800_442-797delATTA","hgvs_p":"p.?","consequences":["intron_variant"]},"phenotype":{"is_acmg_sf":true,"is_disease_gene":true},"constraints":{"gnomad_mis_z":2.3217,"gnomad_oe_lof":0.76716,"gnomad_oe_lof_lower":0.666,"gnomad_oe_lof_upper":0.885,"gnomad_oe_mis":0.86592,"gnomad_oe_mis_lower":0.833,"gnomad_oe_mis_upper":0.899,"gnomad_pli":1.4282e-34,"gnomad_syn_z":2.6589}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":9,"ad":0,"gq":27,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":14,"ad":0,"gq":42,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":22,"ad":11,"gq":99,"gt":"0/1"}}}} @@ -11,54 +11,54 @@ fb780859-e8d8-c7bc-37b7-8e2f9b8d68d9 GRCh37 17 17 ATAAT A 899 41252693 41252697 37ae6bd2-3910-a1ee-09ac-4e992e019381 GRCh37 17 17 A ATT 899 41252697 41252697 . {"case_uuid":"00000000-0000-0000-0000-000000000000","gene_related":{"identity":{"hgnc_id":"HGNC:1100","hgnc_symbol":"BRCA1"},"consequences":{"hgvs_t":"c.442-801_442-800insAA","hgvs_p":"p.?","consequences":["intron_variant"]},"phenotype":{"is_acmg_sf":true,"is_disease_gene":true},"constraints":{"gnomad_mis_z":2.3217,"gnomad_oe_lof":0.76716,"gnomad_oe_lof_lower":0.666,"gnomad_oe_lof_upper":0.885,"gnomad_oe_mis":0.86592,"gnomad_oe_mis_lower":0.833,"gnomad_oe_mis_upper":0.899,"gnomad_pli":1.4282e-34,"gnomad_syn_z":2.6589}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":45,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":33,"ad":16,"gq":99,"gt":"0/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":33,"ad":21,"gq":99,"gt":"0/1"}}}} 52f6d2dd-4397-0164-da3f-c7b517b61024 GRCh37 17 17 G T 899 41254393 41254393 . {"case_uuid":"00000000-0000-0000-0000-000000000000","gene_related":{"identity":{"hgnc_id":"HGNC:1100","hgnc_symbol":"BRCA1"},"consequences":{"hgvs_t":"c.441+1746C>A","hgvs_p":"p.?","consequences":["intron_variant"]},"phenotype":{"is_acmg_sf":true,"is_disease_gene":true},"constraints":{"gnomad_mis_z":2.3217,"gnomad_oe_lof":0.76716,"gnomad_oe_lof_lower":0.666,"gnomad_oe_lof_upper":0.885,"gnomad_oe_mis":0.86592,"gnomad_oe_mis_lower":0.833,"gnomad_oe_mis_upper":0.899,"gnomad_pli":1.4282e-34,"gnomad_syn_z":2.6589}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":37,"ad":8,"gq":66,"gt":"0/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":null,"ad":null,"gq":null,"gt":"./."},"Case_1_mother-N1-DNA1-WGS1":{"dp":35,"ad":3,"gq":47,"gt":"0/0"}}}} fcad5acd-80e4-e585-9021-80d1eb16fd37 GRCh37 17 17 C CA 899 41273700 41273700 . {"case_uuid":"00000000-0000-0000-0000-000000000000","gene_related":{"identity":{"hgnc_id":"HGNC:1100","hgnc_symbol":"BRCA1"},"consequences":{"hgvs_t":"c.80+2333_80+2334insT","hgvs_p":"p.?","consequences":["intron_variant"]},"phenotype":{"is_acmg_sf":true,"is_disease_gene":true},"constraints":{"gnomad_mis_z":2.3217,"gnomad_oe_lof":0.76716,"gnomad_oe_lof_lower":0.666,"gnomad_oe_lof_upper":0.885,"gnomad_oe_mis":0.86592,"gnomad_oe_mis_lower":0.833,"gnomad_oe_mis_upper":0.899,"gnomad_pli":1.4282e-34,"gnomad_syn_z":2.6589}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":14,"ad":0,"gq":42,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":7,"ad":1,"gq":10,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":10,"ad":5,"gq":65,"gt":"0/1"}}}} -ca2f07a3-7c4b-3903-f3d3-0e29217ced84 GRCh37 MT 25 A G 585 73 73 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3975,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2871,"ad":2871,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":3320,"ad":3320,"gq":99,"gt":"1/1"}}}} +ca2f07a3-7c4b-3903-f3d3-0e29217ced84 GRCh37 MT 25 A G 585 73 73 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV003066071.1","germline_significance_description":"Affects","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3975,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2871,"ad":2871,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":3320,"ad":3320,"gq":99,"gt":"1/1"}}}} e4565a76-7abc-de0c-1f55-83a9c9c77da5 GRCh37 MT 25 T C 585 119 119 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":5418,"ad":1,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":4039,"ad":4039,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":4113,"ad":4112,"gq":99,"gt":"1/1"}}}} bff5c542-d0b9-85d8-32a8-af76ab056b7f GRCh37 MT 25 A G 585 189 189 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3069,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":1721,"ad":1721,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2204,"ad":2204,"gq":99,"gt":"1/1"}}}} c34f9afa-1bc0-8781-253f-0a6a3f83f90e GRCh37 MT 25 T C 585 195 195 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2599,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":1592,"ad":1592,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1815,"ad":1815,"gq":99,"gt":"1/1"}}}} 50cbce17-63d8-db59-5238-4e4d1f429372 GRCh37 MT 25 T C 585 204 204 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2180,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":1424,"ad":1424,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1304,"ad":1304,"gq":99,"gt":"1/1"}}}} d590cf23-b4ce-5ccb-c44f-249531de1a34 GRCh37 MT 25 G A 585 207 207 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2115,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":1408,"ad":1408,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1277,"ad":1277,"gq":99,"gt":"1/1"}}}} -f233ea84-cdaf-d666-d3ab-072afee793a7 GRCh37 MT 25 A G 585 263 263 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":1288,"ad":1288,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":1204,"ad":1204,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1031,"ad":1031,"gq":99,"gt":"1/1"}}}} +f233ea84-cdaf-d666-d3ab-072afee793a7 GRCh37 MT 25 A G 585 263 263 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000441147.1","germline_significance_description":"not provided","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_NO_CLASSIFICATION_PROVIDED"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":1288,"ad":1288,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":1204,"ad":1204,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1031,"ad":1031,"gq":99,"gt":"1/1"}}}} e1468add-b464-8a6c-ec2e-103200bd73e3 GRCh37 MT 25 T TC 585 310 310 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":1035,"ad":1035,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":1411,"ad":1411,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1091,"ad":1090,"gq":99,"gt":"1/1"}}}} a9b766ee-b019-06ec-0f0e-106c69a98ade GRCh37 MT 25 T C 585 477 477 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2133,"ad":2129,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":2267,"ad":1,"gq":99,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1725,"ad":0,"gq":99,"gt":"0/0"}}}} d35b46a5-b0c1-1da6-33a1-08cfe7868438 GRCh37 MT 25 G A 585 709 709 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2494,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2186,"ad":2186,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1814,"ad":1813,"gq":99,"gt":"1/1"}}}} -b61cab5a-4a7b-b893-cf85-7860f20ade63 GRCh37 MT 25 A G 585 750 750 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2757,"ad":2757,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":2392,"ad":2392,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1621,"ad":1621,"gq":99,"gt":"1/1"}}}} +b61cab5a-4a7b-b893-cf85-7860f20ade63 GRCh37 MT 25 A G 585 750 750 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000441148.2","germline_significance_description":"association not found","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2757,"ad":2757,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":2392,"ad":2392,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1621,"ad":1621,"gq":99,"gt":"1/1"}}}} 672c7b99-2b64-1511-5470-d318fb93a26d GRCh37 MT 25 T C 585 879 879 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2853,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2784,"ad":0,"gq":99,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1898,"ad":547,"gq":99,"gt":"0/1"}}}} -b7551f09-c362-95fc-1348-41cb61597e9b GRCh37 MT 25 T C 585 1243 1243 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000042212","rcv":"RCV000035037","significance":"Benign","review_status":"criteria provided, single submitter"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2675,"ad":1,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2198,"ad":2198,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1655,"ad":1655,"gq":99,"gt":"1/1"}}}} -9539a2e2-4216-df73-5160-553fe24a3a07 GRCh37 MT 25 A G 585 1438 1438 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000042220","rcv":"RCV000035045","significance":"Benign","review_status":"criteria provided, single submitter"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3815,"ad":3815,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":3653,"ad":3653,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2900,"ad":2900,"gq":99,"gt":"1/1"}}}} +b7551f09-c362-95fc-1348-41cb61597e9b GRCh37 MT 25 T C 585 1243 1243 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000042212.5","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_MULTIPLE_SUBMITTERS_NO_CONFLICTS"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2675,"ad":1,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2198,"ad":2198,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1655,"ad":1655,"gq":99,"gt":"1/1"}}}} +9539a2e2-4216-df73-5160-553fe24a3a07 GRCh37 MT 25 A G 585 1438 1438 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000042220.4","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3815,"ad":3815,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":3653,"ad":3653,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2900,"ad":2900,"gq":99,"gt":"1/1"}}}} 352238e0-397b-7927-5da4-b243ea387362 GRCh37 MT 25 T C 585 1824 1824 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2668,"ad":2668,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":2409,"ad":0,"gq":99,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1752,"ad":0,"gq":99,"gt":"0/0"}}}} 8bba3301-d637-cd7d-dc93-d9cfac05fcf7 GRCh37 MT 25 A G 585 2633 2633 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2535,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2409,"ad":761,"gq":99,"gt":"0/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2269,"ad":0,"gq":99,"gt":"0/0"}}}} 2657f47f-a888-eed9-a4e5-def11783b88b GRCh37 MT 25 A G 585 2706 2706 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3200,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2847,"ad":2847,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2020,"ad":2020,"gq":99,"gt":"1/1"}}}} -b57db1f3-5386-d3c4-b1d4-4bc98d6b94cf GRCh37 MT 25 G A 585 3010 3010 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2841,"ad":2841,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":2385,"ad":0,"gq":99,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1685,"ad":0,"gq":99,"gt":"0/0"}}}} -13719fff-02ec-2d93-7c5a-23d92355203c GRCh37 MT 25 A G 585 3505 3505 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000252456","rcv":"RCV000238711","significance":"Benign","review_status":"criteria provided, single submitter"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2594,"ad":14,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2363,"ad":2363,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1664,"ad":1664,"gq":99,"gt":"1/1"}}}} -e89e59fc-018a-1862-6cda-3cfb34f5cd64 GRCh37 MT 25 A G 585 4769 4769 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000441150","rcv":"RCV002221548","significance":"Benign","review_status":"reviewed by expert panel"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2689,"ad":2689,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":2549,"ad":2549,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2108,"ad":2108,"gq":99,"gt":"1/1"}}}} -66d742e2-b8dd-a13a-1e95-26f4709be73e GRCh37 MT 25 G A 585 5046 5046 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000692536","rcv":"RCV000853853","significance":"Benign","review_status":"criteria provided, single submitter"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2878,"ad":2,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2466,"ad":2466,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1661,"ad":1661,"gq":99,"gt":"1/1"}}}} -83d85be2-22de-6ba2-543c-f84c369e5d7a GRCh37 MT 25 G A 585 5460 5460 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000692591","rcv":"RCV000853909","significance":"Benign","review_status":"criteria provided, single submitter"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2907,"ad":2,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2759,"ad":2759,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1970,"ad":1968,"gq":99,"gt":"1/1"}}}} -b5afecec-51df-8ef7-434a-baf3c1002a2b GRCh37 MT 25 C T 585 7028 7028 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV001676315","rcv":"RCV002221702","significance":"Benign","review_status":"reviewed by expert panel"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2580,"ad":3,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2203,"ad":2201,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1946,"ad":1945,"gq":99,"gt":"1/1"}}}} +b57db1f3-5386-d3c4-b1d4-4bc98d6b94cf GRCh37 MT 25 G A 585 3010 3010 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000441149.1","germline_significance_description":"not provided","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_NO_CLASSIFICATION_PROVIDED"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2841,"ad":2841,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":2385,"ad":0,"gq":99,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1685,"ad":0,"gq":99,"gt":"0/0"}}}} +13719fff-02ec-2d93-7c5a-23d92355203c GRCh37 MT 25 A G 585 3505 3505 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000252456.4","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_MULTIPLE_SUBMITTERS_NO_CONFLICTS"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2594,"ad":14,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2363,"ad":2363,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1664,"ad":1664,"gq":99,"gt":"1/1"}}}} +e89e59fc-018a-1862-6cda-3cfb34f5cd64 GRCh37 MT 25 A G 585 4769 4769 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000441150.2","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_REVIEWED_BY_EXPERT_PANEL"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2689,"ad":2689,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":2549,"ad":2549,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2108,"ad":2108,"gq":99,"gt":"1/1"}}}} +66d742e2-b8dd-a13a-1e95-26f4709be73e GRCh37 MT 25 G A 585 5046 5046 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000692536.1","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2878,"ad":2,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2466,"ad":2466,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1661,"ad":1661,"gq":99,"gt":"1/1"}}}} +83d85be2-22de-6ba2-543c-f84c369e5d7a GRCh37 MT 25 G A 585 5460 5460 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000692591.1","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2907,"ad":2,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2759,"ad":2759,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1970,"ad":1968,"gq":99,"gt":"1/1"}}}} +b5afecec-51df-8ef7-434a-baf3c1002a2b GRCh37 MT 25 C T 585 7028 7028 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV001676315.1","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_REVIEWED_BY_EXPERT_PANEL"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2580,"ad":3,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2203,"ad":2201,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1946,"ad":1945,"gq":99,"gt":"1/1"}}}} 27f013be-f37b-1677-c0cc-9826cbbac588 GRCh37 MT 25 C T 585 7864 7864 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3589,"ad":1,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":3465,"ad":3465,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2746,"ad":2746,"gq":99,"gt":"1/1"}}}} af4093a0-380b-601c-19b8-798dc8262554 GRCh37 MT 25 A G 585 8170 8170 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2052,"ad":1,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2257,"ad":2257,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1774,"ad":1774,"gq":99,"gt":"1/1"}}}} 2d6308c3-e277-a03e-e07e-c94b25a57f91 GRCh37 MT 25 G A 585 8251 8251 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2360,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2317,"ad":2317,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1625,"ad":1624,"gq":99,"gt":"1/1"}}}} -7c3c60db-0ce6-f1ae-c25b-03481716310f GRCh37 MT 25 A G 585 8860 8860 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000693004","rcv":"RCV000854344","significance":"Benign","review_status":"criteria provided, single submitter"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3278,"ad":3278,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":3088,"ad":3088,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2241,"ad":2241,"gq":99,"gt":"1/1"}}}} +7c3c60db-0ce6-f1ae-c25b-03481716310f GRCh37 MT 25 A G 585 8860 8860 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000693004.1","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3278,"ad":3278,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":3088,"ad":3088,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2241,"ad":2241,"gq":99,"gt":"1/1"}}}} 7df9e3b7-fc9b-5d7a-e655-d2f443f9fc9c GRCh37 MT 25 G A 585 8994 8994 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2793,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2368,"ad":2368,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1918,"ad":1917,"gq":99,"gt":"1/1"}}}} -2eaa2ac8-fa96-c1de-4202-ad41ca485e91 GRCh37 MT 25 A G 585 9007 9007 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000693051","rcv":"RCV000854395","significance":"Benign","review_status":"criteria provided, single submitter"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2959,"ad":2959,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":2442,"ad":0,"gq":99,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1735,"ad":0,"gq":99,"gt":"0/0"}}}} +2eaa2ac8-fa96-c1de-4202-ad41ca485e91 GRCh37 MT 25 A G 585 9007 9007 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000693051.1","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2959,"ad":2959,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":2442,"ad":0,"gq":99,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1735,"ad":0,"gq":99,"gt":"0/0"}}}} 6c6a5834-04a6-5e7c-c01b-22bbb77f9272 GRCh37 MT 25 A G 585 9150 9150 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3163,"ad":3163,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":3538,"ad":0,"gq":99,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2767,"ad":0,"gq":99,"gt":"0/0"}}}} 7452d51c-dbde-0fee-b38a-98ccc5bb690a GRCh37 MT 25 G A 585 9380 9380 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3321,"ad":3320,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":3222,"ad":0,"gq":99,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2547,"ad":0,"gq":99,"gt":"0/0"}}}} ca05f641-2547-d07c-73fb-51d4cd04b8c1 GRCh37 MT 25 A G 585 10097 10097 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2660,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2188,"ad":508,"gq":99,"gt":"0/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1851,"ad":0,"gq":99,"gt":"0/0"}}}} -8903a48e-34bf-f751-434e-737ae1fbb057 GRCh37 MT 25 T C 585 11204 11204 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000693352","rcv":"RCV000854716","significance":"Benign","review_status":"criteria provided, single submitter"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3173,"ad":5,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2922,"ad":2922,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2418,"ad":2418,"gq":99,"gt":"1/1"}}}} +8903a48e-34bf-f751-434e-737ae1fbb057 GRCh37 MT 25 T C 585 11204 11204 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000693352.1","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3173,"ad":5,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2922,"ad":2922,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2418,"ad":2418,"gq":99,"gt":"1/1"}}}} 0ecd3149-395c-0a62-3bb1-279bfd98fcb8 GRCh37 MT 25 C T 585 11674 11674 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2890,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2666,"ad":2666,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2180,"ad":2179,"gq":99,"gt":"1/1"}}}} -09f0c5e2-0258-3faf-c423-376104ca8293 GRCh37 MT 25 G A 585 11719 11719 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3341,"ad":2,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":3052,"ad":3052,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2203,"ad":2203,"gq":99,"gt":"1/1"}}}} +09f0c5e2-0258-3faf-c423-376104ca8293 GRCh37 MT 25 G A 585 11719 11719 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV003027424.1","germline_significance_description":"association","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3341,"ad":2,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":3052,"ad":3052,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2203,"ad":2203,"gq":99,"gt":"1/1"}}}} 722efc9b-7cd0-5b14-6f8d-542f04ee4d64 GRCh37 MT 25 A G 585 11947 11947 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2581,"ad":2,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2273,"ad":2273,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1804,"ad":1804,"gq":99,"gt":"1/1"}}}} d38690b7-5e08-9eb6-f615-25f634b4d4ee GRCh37 MT 25 T C 585 12414 12414 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2855,"ad":3,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2546,"ad":2545,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1733,"ad":1733,"gq":99,"gt":"1/1"}}}} f97ca841-63b8-7a16-0f28-d325e5b56fd8 GRCh37 MT 25 A G 585 12648 12648 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":1813,"ad":1,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":1664,"ad":1662,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1781,"ad":1777,"gq":99,"gt":"1/1"}}}} 22687039-8cea-a692-d38d-9ea9a2de5cc8 GRCh37 MT 25 C T 585 12705 12705 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2369,"ad":10,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2138,"ad":2137,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1622,"ad":1621,"gq":99,"gt":"1/1"}}}} -5eeb0cd1-830d-8ec3-6744-372c94e69152 GRCh37 MT 25 G A 585 13406 13406 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000693552","rcv":"RCV000854927","significance":"Uncertain significance","review_status":"criteria provided, single submitter"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2540,"ad":1,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2216,"ad":0,"gq":99,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1957,"ad":733,"gq":99,"gt":"0/1"}}}} +5eeb0cd1-830d-8ec3-6744-372c94e69152 GRCh37 MT 25 G A 585 13406 13406 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000693552.1","germline_significance_description":"Uncertain significance","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2540,"ad":1,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2216,"ad":0,"gq":99,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1957,"ad":733,"gq":99,"gt":"0/1"}}}} 720edd7c-6ace-b22a-0a90-1f3f94d1dfca GRCh37 MT 25 A G 585 13611 13611 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3840,"ad":2,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":3717,"ad":3717,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2835,"ad":2834,"gq":99,"gt":"1/1"}}}} -a117eee4-5fb5-13e0-a8bf-03d115fd4851 GRCh37 MT 25 G C 585 13928 13928 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000693635","rcv":"RCV000855013","significance":"Benign","review_status":"criteria provided, single submitter"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2947,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2700,"ad":2700,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1880,"ad":1880,"gq":99,"gt":"1/1"}}}} -f426c9bc-5baf-cc24-1cd4-b4f0c48dd349 GRCh37 MT 25 A G 585 14148 14148 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000235351","rcv":"RCV000224762","significance":"Likely benign","review_status":"criteria provided, single submitter"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3021,"ad":2,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2820,"ad":2820,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1962,"ad":1962,"gq":99,"gt":"1/1"}}}} -5c5bade4-3c09-99ec-3045-cfea5c41a4bd GRCh37 MT 25 C T 585 14766 14766 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000140587","rcv":"RCV000128802","significance":"Likely pathogenic","review_status":"no assertion criteria provided"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3321,"ad":3,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":3113,"ad":3111,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2358,"ad":2355,"gq":99,"gt":"1/1"}}}} -fc0ad6a5-9b72-6d44-3f3f-eba9c6063b22 GRCh37 MT 25 A G 585 15326 15326 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000140592","rcv":"RCV000128807","significance":"Likely pathogenic","review_status":"no assertion criteria provided"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3716,"ad":3716,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":3560,"ad":3560,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2690,"ad":2690,"gq":99,"gt":"1/1"}}}} -07946d87-b13b-ecd7-5bc0-cbaec6683927 GRCh37 MT 25 G C 585 15884 15884 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000252455","rcv":"RCV000238892","significance":"Benign","review_status":"criteria provided, single submitter"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3596,"ad":1,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":3167,"ad":3167,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2734,"ad":2733,"gq":99,"gt":"1/1"}}}} +a117eee4-5fb5-13e0-a8bf-03d115fd4851 GRCh37 MT 25 G C 585 13928 13928 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000693635.1","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":2947,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2700,"ad":2700,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1880,"ad":1880,"gq":99,"gt":"1/1"}}}} +f426c9bc-5baf-cc24-1cd4-b4f0c48dd349 GRCh37 MT 25 A G 585 14148 14148 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000235351.2","germline_significance_description":"Likely benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3021,"ad":2,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2820,"ad":2820,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1962,"ad":1962,"gq":99,"gt":"1/1"}}}} +5c5bade4-3c09-99ec-3045-cfea5c41a4bd GRCh37 MT 25 C T 585 14766 14766 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000140587.4","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3321,"ad":3,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":3113,"ad":3111,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2358,"ad":2355,"gq":99,"gt":"1/1"}}}} +fc0ad6a5-9b72-6d44-3f3f-eba9c6063b22 GRCh37 MT 25 A G 585 15326 15326 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000140592.4","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_REVIEWED_BY_EXPERT_PANEL"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3716,"ad":3716,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":3560,"ad":3560,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2690,"ad":2690,"gq":99,"gt":"1/1"}}}} +07946d87-b13b-ecd7-5bc0-cbaec6683927 GRCh37 MT 25 G C 585 15884 15884 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000252455.3","germline_significance_description":"Benign","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_MULTIPLE_SUBMITTERS_NO_CONFLICTS"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":3596,"ad":1,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":3167,"ad":3167,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":2734,"ad":2733,"gq":99,"gt":"1/1"}}}} 955a08b1-21df-a068-e505-f72fd12bc865 GRCh37 MT 25 C T 585 16184 16184 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":1407,"ad":1,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":1969,"ad":1969,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1478,"ad":1478,"gq":99,"gt":"1/1"}}}} -0799c875-65b8-bb96-fb14-b76e309200e2 GRCh37 MT 25 C T 585 16223 16223 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":1406,"ad":1,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2018,"ad":2018,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1472,"ad":1472,"gq":99,"gt":"1/1"}}}} +0799c875-65b8-bb96-fb14-b76e309200e2 GRCh37 MT 25 C T 585 16223 16223 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV003027423.1","germline_significance_description":"association not found","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED"}},"call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":1406,"ad":1,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":2018,"ad":2018,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1472,"ad":1472,"gq":99,"gt":"1/1"}}}} 98270734-fa7f-4c24-04fa-7f924e14ee8d GRCh37 MT 25 T C 585 16263 16263 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":1478,"ad":1476,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":1994,"ad":0,"gq":99,"gt":"0/0"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1475,"ad":0,"gq":99,"gt":"0/0"}}}} 02f0fa52-18be-3379-375e-5fc324e05bc6 GRCh37 MT 25 C T 585 16292 16292 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":1652,"ad":0,"gq":99,"gt":"0/0"},"Case_1_index-N1-DNA1-WGS1":{"dp":1914,"ad":1913,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1476,"ad":1476,"gq":99,"gt":"1/1"}}}} bef71ebc-fa2d-758a-cd58-2732175691e4 GRCh37 MT 25 T C 585 16519 16519 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"Case_1_father-N1-DNA1-WGS1":{"dp":1759,"ad":1759,"gq":99,"gt":"1/1"},"Case_1_index-N1-DNA1-WGS1":{"dp":4094,"ad":4094,"gq":99,"gt":"1/1"},"Case_1_mother-N1-DNA1-WGS1":{"dp":1744,"ad":1744,"gq":99,"gt":"1/1"}}}} diff --git a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__test__smoke_test@dragen.ingested.vcf.snap b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__test__smoke_test@dragen.ingested.vcf.snap index e0ad0adc..88d846a5 100644 --- a/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__test__smoke_test@dragen.ingested.vcf.snap +++ b/src/seqvars/query/snapshots/varfish_server_worker__seqvars__query__test__smoke_test@dragen.ingested.vcf.snap @@ -4,4 +4,4 @@ expression: "std::fs::read_to_string(args.path_output.as_str())?" --- sodar_uuid release chromosome chromosome_no reference alternative bin start end smallvariantqueryresultset_id payload a2242722-6377-cc86-7d51-ad3f130af08a GRCh37 17 17 CA C 899 41256074 41256075 . {"case_uuid":"00000000-0000-0000-0000-000000000000","gene_related":{"identity":{"hgnc_id":"HGNC:1100","hgnc_symbol":"BRCA1"},"consequences":{"hgvs_t":"c.441+64delT","hgvs_p":"p.?","consequences":["intron_variant"]},"phenotype":{"is_acmg_sf":true,"is_disease_gene":true},"constraints":{"gnomad_mis_z":2.3217,"gnomad_oe_lof":0.76716,"gnomad_oe_lof_lower":0.666,"gnomad_oe_lof_upper":0.885,"gnomad_oe_mis":0.86592,"gnomad_oe_mis_lower":0.833,"gnomad_oe_mis_upper":0.899,"gnomad_pli":1.4282e-34,"gnomad_syn_z":2.6589}},"variant_related":{"precomputed_scores":{"PHRED":4.373,"spliceai":0.0,"spliceai_argmax":"SpliceAI-acc-gain"},"db_ids":{"dbsnp_rs":"rs72434991"}},"call_related":{"call_info":{"CASE":{"dp":80,"ad":80,"gq":99,"gt":"1|1"}}}} -d13451de-7160-efa2-b230-76fd782de967 GRCh37 MT 25 A G 585 750 750 . {"case_uuid":"00000000-0000-0000-0000-000000000000","call_related":{"call_info":{"CASE":{"dp":35,"ad":35,"gq":99,"gt":"1/1"}}}} +d13451de-7160-efa2-b230-76fd782de967 GRCh37 MT 25 A G 585 750 750 . {"case_uuid":"00000000-0000-0000-0000-000000000000","variant_related":{"clinvar":{"vcv":"VCV000441148.2","germline_significance_description":"association not found","germline_review_status":"AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED"}},"call_related":{"call_info":{"CASE":{"dp":35,"ad":35,"gq":99,"gt":"1/1"}}}} diff --git a/src/strucvars/aggregate/cli.rs b/src/strucvars/aggregate/cli.rs index b4e0ab95..c810006f 100644 --- a/src/strucvars/aggregate/cli.rs +++ b/src/strucvars/aggregate/cli.rs @@ -10,11 +10,8 @@ use std::{ use bio::data_structures::interval_tree::IntervalTree; use clap::{command, Parser}; -use futures::TryStreamExt; -use mehari::common::{ - io::std::{open_write_maybe_bgzf, read_lines}, - noodles::open_vcf_reader, -}; +use futures::TryStreamExt as _; +use mehari::common::io::std::{open_write_maybe_bgzf, read_lines}; use serde_json::to_writer; use strum::IntoEnumIterator; @@ -24,6 +21,7 @@ use crate::{ common::{build_chrom_map, trace_rss_now, GenomeRelease, CHROMS}, strucvars::query::schema::SvType, }; +use mehari::common::noodles::open_vcf_reader; /// Create one file with records for each chromosome and SV type. fn create_tmp_files( @@ -63,7 +61,7 @@ async fn split_input_by_chrom_and_sv_type( let (pedigree, _) = crate::common::extract_pedigree_and_case_uuid(&input_header)?; let mut prev = std::time::Instant::now(); - let mut records = input_reader.records(&input_header); + let mut records = input_reader.records(); let before_parsing = Instant::now(); let mut count_records = 0; while let Some(input_record) = records.try_next().await? { diff --git a/src/strucvars/aggregate/output.rs b/src/strucvars/aggregate/output.rs index f5b8f85d..6de05d24 100644 --- a/src/strucvars/aggregate/output.rs +++ b/src/strucvars/aggregate/output.rs @@ -3,10 +3,13 @@ use mehari::annotate::strucvars::{ bnd::Breakend, csq::interface::StrandOrientation, PeOrientation, }; -use noodles_vcf as vcf; +use noodles::vcf::{ + self, + variant::record::{samples::Sample, AlternateBases as _}, +}; use crate::{ - common::{Chrom, Genotype}, + common::{genotype_to_string, strip_gt_leading_slash, Chrom, Genotype}, strucvars::query::schema::SvType, }; @@ -69,37 +72,40 @@ impl Record { _genome_release: crate::common::GenomeRelease, pedigree: &mehari::ped::PedigreeByName, ) -> Result { - let chromosome = record.chromosome().to_string(); + let chromosome = record.reference_sequence_name().to_string(); let begin = { - let position: usize = record.position().into(); + let position: usize = record + .variant_start() + .expect("no variant_start?") + .map_err(|e| anyhow::anyhow!("error converting start position: {}", e))? + .into(); position.saturating_sub(1) as i32 }; - let chromosome2 = if let Some(Some(vcf::record::info::field::Value::String(chromosome2))) = - record.info().get( - &"chr2" - .parse::() - .expect("invalid key chr2?"), - ) { - chromosome2.clone() - } else { - chromosome.clone() - }; - let end = if let Some(Some(vcf::record::info::field::Value::Integer(end))) = record - .info() - .get(&vcf::record::info::field::key::END_POSITION) + let chromosome2 = + if let Some(Ok(Some(vcf::variant::record::info::field::Value::String(chromosome2)))) = + record.info().get(header, "chr2") + { + chromosome2.to_string() + } else { + chromosome.clone() + }; + use noodles::vcf::variant::record::info::field::key; + let end = if let Some(Ok(Some(vcf::variant::record::info::field::Value::Integer(end)))) = + record.info().get(header, key::END_POSITION) { - *end + end } else { anyhow::bail!("missing INFO/END") }; - let sv_type = if let Some(Some(vcf::record::info::field::Value::String(sv_type))) = - record.info().get(&vcf::record::info::field::key::SV_TYPE) - { - sv_type.parse()? - } else { - anyhow::bail!("missing INFO/SVTYPE") - }; + let sv_type = + if let Some(Ok(Some(vcf::variant::record::info::field::Value::String(sv_type)))) = + record.info().get(header, key::SV_TYPE) + { + sv_type.parse()? + } else { + anyhow::bail!("missing INFO/SVTYPE") + }; let pe_orientation = match sv_type { SvType::Del => StrandOrientation::ThreeToFive, @@ -107,12 +113,13 @@ impl Record { SvType::Inv => StrandOrientation::FiveToFive, SvType::Bnd => { let pe_orientation = Breakend::from_ref_alt_str( - &record.reference_bases().to_string(), - &record + record.reference_bases(), + record .alternate_bases() - .first() - .ok_or_else(|| anyhow::anyhow!("no alternate allele?"))? - .to_string(), + .iter() + .next() + .transpose()? + .ok_or_else(|| anyhow::anyhow!("no alternate allele?"))?, )? .pe_orientation; match pe_orientation { @@ -126,32 +133,33 @@ impl Record { SvType::Ins | SvType::Cnv => StrandOrientation::NotApplicable, }; - let chrom: Chrom = - annonars::common::cli::canonicalize(record.chromosome().to_string().as_str()) - .as_str() - .parse()?; + let chrom: Chrom = annonars::common::cli::canonicalize( + record.reference_sequence_name().to_string().as_str(), + ) + .as_str() + .parse()?; let (mut carriers_het, mut carriers_hom, mut carriers_hemi) = (0, 0, 0); - for (name, sample) in header - .sample_names() - .iter() - .zip(record.genotypes().values()) - { + for (name, sample) in header.sample_names().iter().zip(record.samples().iter()) { let individual = pedigree .individuals .get(name) .ok_or_else(|| anyhow::anyhow!("individual {} not found in pedigree", name))?; - let genotype: Genotype = - if let Some(Some(gt)) = sample.get(&vcf::record::genotypes::keys::key::GENOTYPE) { - if let vcf::record::genotypes::sample::Value::String(gt) = gt { - gt.as_str().parse()? - } else { - anyhow::bail!("invalid genotype value: {:?}", gt); - } + let genotype: Genotype = if let Some(Ok(Some(gt))) = sample.get( + header, + noodles::vcf::variant::record::samples::keys::key::GENOTYPE, + ) { + if let vcf::variant::record::samples::series::Value::Genotype(gt) = gt { + let gt_string = genotype_to_string(&*gt)?; + let gt_str = strip_gt_leading_slash(>_string); + gt_str.parse()? } else { - continue; // skip, no-call or empty - }; + anyhow::bail!("invalid genotype value: {:?}", gt); + } + } else { + continue; // empty or invalid => skip + }; match (chrom, individual.sex, genotype) { (_, _, Genotype::WithNoCall) => continue, diff --git a/src/strucvars/ingest/header.rs b/src/strucvars/ingest/header.rs index 4655daa0..c1b6dbf8 100644 --- a/src/strucvars/ingest/header.rs +++ b/src/strucvars/ingest/header.rs @@ -1,6 +1,6 @@ use std::collections::HashSet; -use noodles_vcf as vcf; +use noodles::vcf; use vcf::header::{record::value::map::AlternativeAllele, SampleNames}; use crate::common::{add_contigs_37, add_contigs_38, GenomeRelease}; @@ -36,6 +36,7 @@ fn caller_version(sv_caller: &mehari::annotate::strucvars::SvCaller) -> String { } /// Generate the output header from the input header. +#[allow(clippy::too_many_arguments)] pub fn build_output_header( input_sample_names: &SampleNames, input_sv_callers: &[&mehari::annotate::strucvars::SvCaller], @@ -46,12 +47,12 @@ pub fn build_output_header( worker_version: &str, case_uuid: &str, ) -> Result { + use noodles::vcf::header::record::value::map::info::Number; + use noodles::vcf::variant::record::info::field::key; use vcf::header::record::value::{ map::{format, info, Filter, Format, Info}, Map, }; - use vcf::header::Number; - use vcf::record::genotypes::keys::key; let builder = vcf::Header::builder() .insert( @@ -59,28 +60,13 @@ pub fn build_output_header( vcf::header::record::Value::from(file_date), )? .add_filter("PASS", Map::::new("All filters passed")) + .add_info(key::IS_IMPRECISE, Map::::from(key::IS_IMPRECISE)) + .add_info(key::END_POSITION, Map::::from(key::END_POSITION)) + .add_info(key::SV_TYPE, Map::::from(key::SV_TYPE)) + .add_info(key::SV_LENGTHS, Map::::from(key::SV_LENGTHS)) + .add_info(key::SV_CLAIM, Map::::from(key::SV_CLAIM)) .add_info( - vcf::record::info::field::key::IS_IMPRECISE, - Map::::from(&vcf::record::info::field::key::IS_IMPRECISE), - ) - .add_info( - vcf::record::info::field::key::END_POSITION, - Map::::from(&vcf::record::info::field::key::END_POSITION), - ) - .add_info( - vcf::record::info::field::key::SV_TYPE, - Map::::from(&vcf::record::info::field::key::SV_TYPE), - ) - .add_info( - vcf::record::info::field::key::SV_LENGTHS, - Map::::from(&vcf::record::info::field::key::SV_LENGTHS), - ) - .add_info( - vcf::record::info::field::key::SV_CLAIM, - Map::::from(&vcf::record::info::field::key::SV_CLAIM), - ) - .add_info( - "callers".parse()?, + "callers", Map::::new( Number::Unknown, info::Type::String, @@ -88,7 +74,7 @@ pub fn build_output_header( ), ) .add_info( - "chr2".parse()?, + "chr2", Map::::new( Number::Count(1), info::Type::String, @@ -96,7 +82,7 @@ pub fn build_output_header( ), ) .add_info( - "annsv".parse()?, + "annsv", Map::::new( Number::Count(1), info::Type::String, @@ -104,82 +90,87 @@ pub fn build_output_header( ), ) .add_format( - key::CONDITIONAL_GENOTYPE_QUALITY, - Map::::from(&key::CONDITIONAL_GENOTYPE_QUALITY), + vcf::variant::record::samples::keys::key::CONDITIONAL_GENOTYPE_QUALITY, + Map::::from( + vcf::variant::record::samples::keys::key::CONDITIONAL_GENOTYPE_QUALITY, + ), ) - .add_format(key::GENOTYPE, Map::::from(&key::GENOTYPE)) .add_format( - "pec".parse()?, + vcf::variant::record::samples::keys::key::GENOTYPE, + Map::::from(vcf::variant::record::samples::keys::key::GENOTYPE), + ) + .add_format( + "pec", Map::::new( - Number::Count(1), + noodles::vcf::header::record::value::map::format::Number::Count(1), format::Type::Integer, "Total coverage with paired-end reads", ), ) .add_format( - "pev".parse()?, + "pev", Map::::new( - Number::Count(1), + noodles::vcf::header::record::value::map::format::Number::Count(1), format::Type::Integer, "Paired-end reads supporting the variant", ), ) .add_format( - "src".parse()?, + "src", Map::::new( - Number::Count(1), + noodles::vcf::header::record::value::map::format::Number::Count(1), format::Type::Integer, "Total coverage with split reads", ), ) .add_format( - "srv".parse()?, + "srv", Map::::new( - Number::Count(1), + noodles::vcf::header::record::value::map::format::Number::Count(1), format::Type::Integer, "Split reads supporting the variant", ), ) .add_format( - "amq".parse()?, + "amq", Map::::new( - Number::Count(1), + noodles::vcf::header::record::value::map::format::Number::Count(1), format::Type::Float, "Average mapping quality over the variant", ), ) .add_format( - "cn".parse()?, + "cn", Map::::new( - Number::Count(1), + noodles::vcf::header::record::value::map::format::Number::Count(1), format::Type::Integer, "Copy number of the variant in the sample", ), ) .add_format( - "anc".parse()?, + "anc", Map::::new( - Number::Count(1), + noodles::vcf::header::record::value::map::format::Number::Count(1), format::Type::Float, "Average normalized coverage over the variant in the sample", ), ) .add_format( - "pc".parse()?, + "pc", Map::::new( - Number::Count(1), + noodles::vcf::header::record::value::map::format::Number::Count(1), format::Type::Integer, "Point count (windows/targets/probes)", ), ) - .add_alternative_allele("DEL".parse()?, Map::::new("Deletion")) - .add_alternative_allele("DUP".parse()?, Map::::new("Duplication")) - .add_alternative_allele("INS".parse()?, Map::::new("Insertion")) + .add_alternative_allele("DEL", Map::::new("Deletion")) + .add_alternative_allele("DUP", Map::::new("Duplication")) + .add_alternative_allele("INS", Map::::new("Insertion")) .add_alternative_allele( - "CNV".parse()?, + "CNV", Map::::new("Copy Number Variation"), ) - .add_alternative_allele("INV".parse()?, Map::::new("Inversion")); + .add_alternative_allele("INV", Map::::new("Inversion")); let mut builder = match genomebuild { GenomeRelease::Grch37 => add_contigs_37(builder), @@ -228,7 +219,7 @@ pub fn build_output_header( // Add SAMPLE entry. builder = builder.insert( "SAMPLE".parse()?, - noodles_vcf::header::record::Value::Map( + noodles::vcf::header::record::Value::Map( i.name.clone(), Map::::builder() .insert( @@ -253,7 +244,7 @@ pub fn build_output_header( } builder = builder.insert( "PEDIGREE".parse()?, - noodles_vcf::header::record::Value::Map(i.name.clone(), map_builder.build()?), + noodles::vcf::header::record::Value::Map(i.name.clone(), map_builder.build()?), )?; } } else { @@ -316,17 +307,19 @@ mod test { #[case("tests/strucvars/ingest/sniffles2-min.vcf")] #[tokio::test] async fn build_output_header_37(#[case] path: &str) -> Result<(), anyhow::Error> { + use mehari::annotate::strucvars::guess_sv_caller; + mehari::common::set_snapshot_suffix!("{}", path.split('/').last().unwrap()); let tmpdir = temp_testdir::TempDir::default(); let pedigree = PedigreeByName::from_path(path.replace(".vcf", ".ped")).unwrap(); - let input_vcf_header = noodles_vcf::reader::Builder::default() + let input_vcf_header = noodles::vcf::io::reader::Builder::default() .build_from_path(path)? .read_header()?; let sv_callers = { - let mut reader = mehari::common::noodles::open_vcf_reader(path).await?; - vec![mehari::annotate::strucvars::guess_sv_caller(&mut reader).await?] + let mut reader = mehari::common::noodles::open_variant_reader(path).await?; + vec![guess_sv_caller(&mut reader).await?] }; let sv_caller_refs = sv_callers.iter().collect::>(); let output_vcf_header = super::build_output_header( @@ -343,7 +336,7 @@ mod test { let out_path = tmpdir.join("out.vcf"); let out_path_str = out_path.to_str().expect("invalid path"); { - noodles_vcf::writer::Writer::new(std::fs::File::create(out_path_str)?) + noodles::vcf::io::writer::Writer::new(std::fs::File::create(out_path_str)?) .write_header(&output_vcf_header)?; } @@ -368,11 +361,11 @@ mod test { let pedigree = PedigreeByName::from_path(path.replace(".vcf", ".ped")).unwrap(); - let input_vcf_header = noodles_vcf::reader::Builder::default() + let input_vcf_header = noodles::vcf::io::reader::Builder::default() .build_from_path(path)? .read_header()?; let sv_callers = { - let mut reader = mehari::common::noodles::open_vcf_reader(path).await?; + let mut reader = mehari::common::noodles::open_variant_reader(path).await?; vec![mehari::annotate::strucvars::guess_sv_caller(&mut reader).await?] }; let sv_caller_refs = sv_callers.iter().collect::>(); @@ -390,7 +383,7 @@ mod test { let out_path = tmpdir.join("out.vcf"); let out_path_str = out_path.to_str().expect("invalid path"); { - noodles_vcf::writer::Writer::new(std::fs::File::create(out_path_str)?) + noodles::vcf::io::writer::Writer::new(std::fs::File::create(out_path_str)?) .write_header(&output_vcf_header)?; } diff --git a/src/strucvars/ingest/mod.rs b/src/strucvars/ingest/mod.rs index 2e79968c..b05c410b 100644 --- a/src/strucvars/ingest/mod.rs +++ b/src/strucvars/ingest/mod.rs @@ -4,9 +4,12 @@ use crate::common::noodles::open_vcf_readers; use crate::common::{self, worker_version, GenomeRelease}; use crate::flush_and_shutdown; use futures::future::join_all; +use mehari::annotate::strucvars::bnd::Breakend; use mehari::annotate::strucvars::guess_sv_caller; -use mehari::common::noodles::{open_vcf_writer, AsyncVcfReader, AsyncVcfWriter}; -use noodles_vcf as vcf; +use mehari::common::noodles::{ + open_vcf_writer, AsyncVcfWriter, NoodlesVariantReader as _, VariantReader, +}; +use noodles::vcf; use rand_core::SeedableRng; use tokio::io::AsyncWriteExt; @@ -61,158 +64,172 @@ pub struct Args { } async fn write_ingest_record( + output_header: &vcf::Header, writer: &mut AsyncVcfWriter, - input_record: &vcf::Record, + input_record: &vcf::variant::RecordBuf, ) -> Result<(), anyhow::Error> { // copy over CHROM, POS, REF - let mut builder = vcf::Record::builder() - .set_chromosome(input_record.chromosome().clone()) - .set_position(input_record.position()) - .set_reference_bases(input_record.reference_bases().clone()); + let builder = vcf::variant::record_buf::builder::Builder::default() + .set_reference_sequence_name(input_record.reference_sequence_name()) + .set_variant_start(input_record.variant_start().expect("no variant_start?")) + .set_reference_bases(input_record.reference_bases()); // copy over first ALT allele, remove any SV sub types - if input_record.alternate_bases().len() != 1 { + if input_record.alternate_bases().as_ref().len() != 1 { anyhow::bail!( "unexpected number of ALT alleles (should be ==1) in: {:?}", input_record.alternate_bases() ); } - let alt_0 = &input_record.alternate_bases()[0]; - let sv_type; - let bnd; - match alt_0 { - vcf::record::alternate_bases::Allele::Breakend(bnd_string) => { - sv_type = "BND".parse()?; - builder = - builder.set_alternate_bases(vcf::record::AlternateBases::from(vec![alt_0.clone()])); - bnd = Some( - mehari::annotate::strucvars::bnd::Breakend::from_ref_alt_str( - &format!("{}", input_record.reference_bases()), - bnd_string, - )?, - ); - } - vcf::record::alternate_bases::Allele::Symbol(symbol) => match symbol { - vcf::record::alternate_bases::allele::Symbol::StructuralVariant(sv) => { - sv_type = sv.ty(); - builder = builder - .set_alternate_bases(vcf::record::AlternateBases::from( - vec![vcf::record::alternate_bases::Allele::Symbol( - vcf::record::alternate_bases::allele::Symbol::StructuralVariant( - vcf::record::alternate_bases::allele::symbol::structural_variant::StructuralVariant::from( - sv.ty() - ) - ) - )] - )); - bnd = None; - } - _ => anyhow::bail!("unexpected symbolic allele: {:?}", &symbol), - }, - _ => anyhow::bail!("unexpected alternate base type: {:?}", &alt_0), - } + let alt_0 = &input_record + .alternate_bases() + .as_ref() + .iter() + .next() + .expect("alternate_bases cannot be empty"); + let (sv_type, bnd, mut builder) = if alt_0.contains('[') || alt_0.contains(']') { + ( + "BND".to_string(), + Some(Breakend::from_ref_alt_str( + input_record.reference_bases(), + &input_record + .alternate_bases() + .as_ref() + .iter() + .next() + .ok_or_else(|| anyhow::anyhow!("no alternate allele?"))? + .to_string(), + )?), + builder.set_alternate_bases(input_record.alternate_bases().clone()), + ) + } else if alt_0.contains('<') && alt_0.contains('>') { + let sv_type = alt_0 + .split('<') + .nth(1) + .ok_or_else(|| anyhow::anyhow!("no < in SV type"))? + .split('>') + .next() + .ok_or_else(|| anyhow::anyhow!("no > in SV type"))? + .split(':') + .next() + .expect("empty SVTYPE?"); + ( + sv_type.to_string(), + None, + builder.set_alternate_bases(vcf::variant::record_buf::AlternateBases::from(vec![ + format!("<{}>", sv_type), + ])), + ) + } else { + anyhow::bail!("unexpected alternate base type: {:?}", &alt_0) + }; // copy over FORMAT tags, all except FT let mut keys_with_value = std::collections::HashSet::::new(); let output_format_values = input_record - .genotypes() + .samples() .values() .map(|g| { g.keys() + .as_ref() .iter() .zip(g.values().iter()) - .filter(|(k, _)| k.as_ref() != "FT") + .filter(|(k, _)| k.as_str() != "FT") .map(|(k, v)| { if v.is_some() { - keys_with_value.insert(k.as_ref().to_string()); + keys_with_value.insert(k.clone()); } v.clone() }) .collect::>() }) - .collect::>(); - let output_keys = vcf::record::genotypes::Keys::try_from( - input_record - .genotypes() - .keys() - .iter() - .filter(|k| k.as_ref() != "FT") - .cloned() - .map(|k| { - if k.as_ref() == "CN" { - "cn".parse().expect("invalid key: cn") - } else { - k - } - }) - .collect::>(), - )?; - builder = builder.set_genotypes(vcf::record::Genotypes::new( + .collect(); + let output_keys = input_record + .samples() + .keys() + .as_ref() + .iter() + .filter(|k| k.as_str() != "FT") + .cloned() + .map(|k| { + if k.as_str() == "CN" { + "cn".parse().expect("invalid key: cn") + } else { + k + } + }) + .collect(); + builder = builder.set_samples(vcf::variant::record_buf::samples::Samples::new( output_keys, output_format_values, )); // copy over INFO tags // Note: annsv will be added only in "strucvars query" - let mut info: noodles_vcf::record::Info = Default::default(); - match sv_type { - vcf::record::alternate_bases::allele::symbol::structural_variant::Type::Deletion | - vcf::record::alternate_bases::allele::symbol::structural_variant::Type::Duplication | - vcf::record::alternate_bases::allele::symbol::structural_variant::Type::CopyNumberVariation => { + let mut info: vcf::variant::record_buf::Info = Default::default(); + match sv_type.as_str() { + "DEL" | "DUP" | "CNV" => { let claim = if keys_with_value.contains("pev") || keys_with_value.contains("srv") { "DJ" } else { "D" }; info.insert( - vcf::record::info::field::key::SV_CLAIM, - Some(vcf::record::info::field::Value::Array( - vcf::record::info::field::value::Array::String(vec![Some(claim.to_string())]), - ) - )); - + vcf::variant::record::info::field::key::SV_CLAIM.to_string(), + Some(vcf::variant::record_buf::info::field::Value::Array( + vcf::variant::record_buf::info::field::value::Array::String(vec![Some( + claim.to_string(), + )]), + )), + ); } - vcf::record::alternate_bases::allele::symbol::structural_variant::Type::Insertion | - vcf::record::alternate_bases::allele::symbol::structural_variant::Type::Inversion | - vcf::record::alternate_bases::allele::symbol::structural_variant::Type::Breakend => { + "INS" | "INV" | "BND" => { info.insert( - vcf::record::info::field::key::SV_CLAIM, - Some(vcf::record::info::field::Value::Array( - vcf::record::info::field::value::Array::String(vec![Some("J".to_string())]), - ) - )); - }, + vcf::variant::record::info::field::key::SV_CLAIM.to_string(), + Some(vcf::variant::record_buf::info::field::Value::Array( + vcf::variant::record_buf::info::field::value::Array::String(vec![Some( + "J".to_string(), + )]), + )), + ); + } + _ => anyhow::bail!("unexpected SV type: {}", sv_type), } info.insert( - vcf::record::info::field::key::SV_TYPE, - Some(vcf::record::info::field::Value::String(sv_type.to_string())), + vcf::variant::record::info::field::key::SV_TYPE.to_string(), + Some(vcf::variant::record_buf::info::field::Value::String( + sv_type.to_string(), + )), ); - if let Some(Some(vcf::record::info::field::Value::Integer(end))) = input_record + if let Some(Some(vcf::variant::record_buf::info::field::Value::Integer(end))) = input_record .info() - .get(&vcf::record::info::field::key::END_POSITION) + .get(vcf::variant::record::info::field::key::END_POSITION) { info.insert( - vcf::record::info::field::key::END_POSITION, - Some(vcf::record::info::field::Value::Integer(*end)), + vcf::variant::record::info::field::key::END_POSITION.to_string(), + Some(vcf::variant::record_buf::info::field::Value::Integer(*end)), ); - if sv_type - == vcf::record::alternate_bases::allele::symbol::structural_variant::Type::Breakend - { + if sv_type == "BND" { info.insert( - "chr2".parse()?, - Some(vcf::record::info::field::value::Value::String( + "chr2".to_string(), + Some(vcf::variant::record_buf::info::field::Value::String( bnd.expect("must be set here").chrom.clone(), )), ); } else { - let pos: usize = input_record.position().into(); + let pos: usize = input_record + .variant_start() + .expect("no variant_start?") + .into(); let sv_len: usize = *end as usize - pos + 1; info.insert( - vcf::record::info::field::key::SV_LENGTHS, - Some(vcf::record::info::field::Value::Array( - vcf::record::info::field::value::Array::Integer(vec![Some(sv_len as i32)]), + vcf::variant::record::info::field::key::SV_LENGTHS.to_string(), + Some(vcf::variant::record_buf::info::field::Value::Array( + vcf::variant::record_buf::info::field::value::Array::Integer(vec![Some( + sv_len as i32, + )]), )), ); } @@ -240,10 +257,9 @@ async fn write_ingest_record( } } - let key_callers: vcf::record::info::field::Key = "callers".parse()?; - if let Some(Some(callers)) = input_record.info().get(&key_callers) { - if let vcf::record::info::field::Value::Array( - vcf::record::info::field::value::Array::String(callers), + if let Some(Some(callers)) = input_record.info().get("callers") { + if let vcf::variant::record_buf::info::field::Value::Array( + vcf::variant::record_buf::info::field::value::Array::String(callers), ) = callers { let output_callers = callers @@ -252,17 +268,17 @@ async fn write_ingest_record( .map(|caller| map_caller(caller)) .collect::, _>>()?; info.insert( - key_callers, - Some(vcf::record::info::field::Value::Array( - vcf::record::info::field::value::Array::String(output_callers), + "callers".to_string(), + Some(vcf::variant::record_buf::info::field::Value::Array( + vcf::variant::record_buf::info::field::value::Array::String(output_callers), )), ); - } else if let vcf::record::info::field::Value::String(caller) = callers { + } else if let vcf::variant::record_buf::info::field::Value::String(caller) = callers { let output_callers = vec![map_caller(caller)?]; info.insert( - key_callers, - Some(vcf::record::info::field::Value::Array( - vcf::record::info::field::value::Array::String(output_callers), + "callers".to_string(), + Some(vcf::variant::record_buf::info::field::Value::Array( + vcf::variant::record_buf::info::field::value::Array::String(output_callers), )), ); } @@ -272,10 +288,10 @@ async fn write_ingest_record( builder = builder.set_info(info); - let record = builder.build()?; + let record = builder.build(); writer - .write_record(&record) + .write_variant_record(output_header, &record) .await .map_err(|e| anyhow::anyhow!("Error writing VCF record: {}", e)) } @@ -283,8 +299,9 @@ async fn write_ingest_record( /// Write out variants from input files. async fn process_variants( pedigree: &mehari::ped::PedigreeByName, + output_header: &vcf::Header, output_writer: &mut AsyncVcfWriter, - input_readers: &mut [AsyncVcfReader], + input_readers: Vec, input_header: &[vcf::Header], input_sv_callers: &[mehari::annotate::strucvars::SvCaller], args: &Args, @@ -303,14 +320,15 @@ async fn process_variants( // Read through input VCF files and write out to temporary files. tracing::info!("converting input VCF files to temporary files..."); - for (reader, sv_caller, header) in itertools::izip!( - input_readers.iter_mut(), + let mut input_readers = input_readers; + for (mut reader, sv_caller, header) in itertools::izip!( + input_readers.drain(..), input_sv_callers.iter(), input_header.iter() ) { mehari::annotate::strucvars::run_vcf_to_jsonl( pedigree, - reader, + &mut reader, header, sv_caller, &tmp_dir, @@ -336,7 +354,7 @@ async fn process_variants( args.min_overlap, )?; for record in clusters { - write_ingest_record(output_writer, &record.try_into()?).await?; + write_ingest_record(output_header, output_writer, &record.try_into()?).await?; } } tracing::info!("... done clustering SVs to output"); @@ -477,7 +495,7 @@ pub async fn run(args_common: &crate::common::Args, args: &Args) -> Result<(), a } } let output_header = header::build_output_header( - &orig_sample_names, + orig_sample_names, &input_sv_callers.iter().collect::>(), id_mappings.as_ref().map(|id_mappings| { id_mappings @@ -499,11 +517,11 @@ pub async fn run(args_common: &crate::common::Args, args: &Args) -> Result<(), a // Map sample names in input headers. let mapped_input_headers = if let Some(id_mappings) = &id_mappings { let mut mapped_input_headers = Vec::new(); - for i in 0..input_headers.len() { + for (i, input_header) in input_headers.iter().enumerate() { let mapping = id_mappings .mapping_for_file(&args.path_in[i]) .expect("checked above"); - let mut input_header = input_headers[i].clone(); + let mut input_header = input_header.clone(); let orig_sample_names = input_header.sample_names().clone(); input_header.sample_names_mut().clear(); for sample_name in orig_sample_names { @@ -529,8 +547,9 @@ pub async fn run(args_common: &crate::common::Args, args: &Args) -> Result<(), a process_variants( &pedigree, + &output_header, &mut output_writer, - &mut input_readers, + input_readers, &mapped_input_headers, &input_sv_callers, args, @@ -557,7 +576,7 @@ mod test { #[tracing_test::traced_test] #[tokio::test] async fn smoke_test_trio() -> Result<(), anyhow::Error> { - let tmpdir = temp_testdir::TempDir::default(); + let tmpdir = temp_testdir::TempDir::default().permanent(); let args_common = Default::default(); let args = super::Args { diff --git a/src/strucvars/ingest/snapshots/varfish_server_worker__strucvars__ingest__test__smoke_test_singleton.snap b/src/strucvars/ingest/snapshots/varfish_server_worker__strucvars__ingest__test__smoke_test_singleton.snap index 7f437a9b..26bb0055 100644 --- a/src/strucvars/ingest/snapshots/varfish_server_worker__strucvars__ingest__test__smoke_test_singleton.snap +++ b/src/strucvars/ingest/snapshots/varfish_server_worker__strucvars__ingest__test__smoke_test_singleton.snap @@ -67,11 +67,11 @@ expression: "std::fs::read_to_string(&args.path_out)?" #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT SAMPLE 1 1000 . N . . SVCLAIM=J;SVTYPE=INS;END=1000;SVLEN=1;callers=Melt GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 1/1:2:1:1:2:2:.:.:.:. 1 1000 . N . . SVCLAIM=DJ;SVTYPE=DEL;END=1049;SVLEN=50;callers=Sniffles GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 1/1:60:.:.:33:33:.:.:.:. -1 2000 . N . . SVCLAIM=J;SVTYPE=INS;END=2000;SVLEN=1;callers=Melt GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/0:60:4:0:24:24:.:.:.:. +1 2000 . N . . SVCLAIM=J;SVTYPE=INS;END=2000;SVLEN=1;callers=Melt,Sniffles GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/0:60:4:0:24:24:.:.:.:. 1 3000 . N . . SVCLAIM=J;SVTYPE=INS;END=3000;SVLEN=1;callers=Melt GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/0:28:23:0:24:1:.:.:.:. 1 3000 . N . . SVCLAIM=J;SVTYPE=INV;END=3589;SVLEN=590;callers=Sniffles GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/1:24:.:.:37:10:.:.:.:. 1 4000 . N . . SVCLAIM=DJ;SVTYPE=DUP;END=17584;SVLEN=13585;callers=Sniffles GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/1:60:.:.:61:18:.:.:.:. 1 5000 . N N]chrUn_JTFH01000344v1_decoy:679] . . SVCLAIM=J;SVTYPE=BND;END=679;chr2=chrUn_JTFH01000344v1_decoy;callers=Sniffles GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/1:15:.:.:31:8:.:.:.:. 1 1283844 . N . . SVCLAIM=D;SVTYPE=CNV;END=1284844;SVLEN=1001;callers=DragenCnv GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/1:.:.:.:.:.:.:1:.:1 -1 1598413 . N . . SVCLAIM=DJ;SVTYPE=DEL;END=1598580;SVLEN=168;callers=DragenSv GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 1/1:53:2:2:20:20:.:.:.:. +1 1598413 . N . . SVCLAIM=DJ;SVTYPE=DEL;END=1598580;SVLEN=168;callers=DragenSv,Manta GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 1/1:53:2:2:20:20:.:.:.:. 1 4124001 . N . . SVCLAIM=D;SVTYPE=DEL;END=4125000;SVLEN=1000;callers=Gcnv GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 1:.:.:.:.:.:.:1:.:1 diff --git a/src/strucvars/ingest/snapshots/varfish_server_worker__strucvars__ingest__test__smoke_test_singleton_with_id_mapping.snap b/src/strucvars/ingest/snapshots/varfish_server_worker__strucvars__ingest__test__smoke_test_singleton_with_id_mapping.snap index 48dc8c26..014c0434 100644 --- a/src/strucvars/ingest/snapshots/varfish_server_worker__strucvars__ingest__test__smoke_test_singleton_with_id_mapping.snap +++ b/src/strucvars/ingest/snapshots/varfish_server_worker__strucvars__ingest__test__smoke_test_singleton_with_id_mapping.snap @@ -67,11 +67,11 @@ expression: "std::fs::read_to_string(&args.path_out)?" #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT my-custom-id 1 1000 . N . . SVCLAIM=J;SVTYPE=INS;END=1000;SVLEN=1;callers=Melt GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 1/1:2:1:1:2:2:.:.:.:. 1 1000 . N . . SVCLAIM=DJ;SVTYPE=DEL;END=1049;SVLEN=50;callers=Sniffles GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 1/1:60:.:.:33:33:.:.:.:. -1 2000 . N . . SVCLAIM=J;SVTYPE=INS;END=2000;SVLEN=1;callers=Melt GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/0:60:4:0:24:24:.:.:.:. +1 2000 . N . . SVCLAIM=J;SVTYPE=INS;END=2000;SVLEN=1;callers=Melt,Sniffles GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/0:60:4:0:24:24:.:.:.:. 1 3000 . N . . SVCLAIM=J;SVTYPE=INS;END=3000;SVLEN=1;callers=Melt GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/0:28:23:0:24:1:.:.:.:. 1 3000 . N . . SVCLAIM=J;SVTYPE=INV;END=3589;SVLEN=590;callers=Sniffles GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/1:24:.:.:37:10:.:.:.:. 1 4000 . N . . SVCLAIM=DJ;SVTYPE=DUP;END=17584;SVLEN=13585;callers=Sniffles GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/1:60:.:.:61:18:.:.:.:. 1 5000 . N N]chrUn_JTFH01000344v1_decoy:679] . . SVCLAIM=J;SVTYPE=BND;END=679;chr2=chrUn_JTFH01000344v1_decoy;callers=Sniffles GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/1:15:.:.:31:8:.:.:.:. 1 1283844 . N . . SVCLAIM=D;SVTYPE=CNV;END=1284844;SVLEN=1001;callers=DragenCnv GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/1:.:.:.:.:.:.:1:.:1 -1 1598413 . N . . SVCLAIM=DJ;SVTYPE=DEL;END=1598580;SVLEN=168;callers=DragenSv GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 1/1:53:2:2:20:20:.:.:.:. +1 1598413 . N . . SVCLAIM=DJ;SVTYPE=DEL;END=1598580;SVLEN=168;callers=DragenSv,Manta GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 1/1:53:2:2:20:20:.:.:.:. 1 4124001 . N . . SVCLAIM=D;SVTYPE=DEL;END=4125000;SVLEN=1000;callers=Gcnv GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 1:.:.:.:.:.:.:1:.:1 diff --git a/src/strucvars/query/masked.rs b/src/strucvars/query/masked.rs index 22e60c26..a5170a44 100644 --- a/src/strucvars/query/masked.rs +++ b/src/strucvars/query/masked.rs @@ -324,8 +324,7 @@ mod test { }], }; - let mut buf = Vec::new(); - buf.reserve(data.encoded_len()); + let mut buf = Vec::with_capacity(data.encoded_len()); data.encode(&mut buf)?; std::fs::write(&path_bin, buf)?; diff --git a/src/strucvars/query/mod.rs b/src/strucvars/query/mod.rs index 9ca737e5..ec0a0a51 100644 --- a/src/strucvars/query/mod.rs +++ b/src/strucvars/query/mod.rs @@ -15,10 +15,8 @@ use std::{ time::Instant, }; -use anyhow::anyhow; use biocommons_bioutils::assemblies::ASSEMBLY_INFOS; use clap::{command, Parser}; -use futures::TryStreamExt; use indexmap::IndexMap; use log::warn; use mehari::{ @@ -30,6 +28,7 @@ use mehari::{ pbs::txs::{Strand, Transcript, TxSeqDatabase}, }; +use noodles::vcf; use rand_core::{RngCore, SeedableRng}; use serde::Serialize; use thousands::Separable; @@ -239,14 +238,18 @@ async fn run_query( .from_path(&args.path_output)?; // Read through input records using the query interpreter as a filter - let mut records = input_reader.records(&input_header); - while let Some(input_record) = records - .try_next() - .await - .map_err(|e| anyhow!("problem reading VCF: {}", e))? - { + let mut record_buf = vcf::variant::RecordBuf::default(); + loop { + let bytes_read = input_reader + .read_record_buf(&input_header, &mut record_buf) + .await + .map_err(|e| anyhow::anyhow!("problem reading VCF file {}: {}", &args.path_input, e))?; + if bytes_read == 0 { + break; // EOF + } + stats.count_total += 1; - let record_sv = StructuralVariant::from_vcf(&input_record, &input_header) + let record_sv = StructuralVariant::from_vcf(&record_buf, &input_header) .map_err(|e| anyhow::anyhow!("could not parse VCF record: {}", e))?; tracing::debug!("processing record {:?}", record_sv); diff --git a/src/strucvars/query/schema.rs b/src/strucvars/query/schema.rs index 6554ed51..1f5035f4 100644 --- a/src/strucvars/query/schema.rs +++ b/src/strucvars/query/schema.rs @@ -1,11 +1,11 @@ //! Supporting code for SV query definition. -use crate::common::TadSet; +use crate::common::{genotype_to_string, TadSet}; use indexmap::IndexMap; use mehari::annotate::strucvars::{ bnd::Breakend, csq::interface::StrandOrientation, PeOrientation, }; -use noodles_vcf as vcf; +use noodles::vcf::{self, variant::record::AlternateBases as _}; use regex::Regex; use serde::{Deserialize, Deserializer, Serialize}; use strum_macros::{Display, EnumIter, EnumString}; @@ -1338,20 +1338,25 @@ impl StructuralVariant { } /// Convert from VCF record. - pub fn from_vcf(record: &vcf::Record, header: &vcf::Header) -> Result { - let chrom = record.chromosome().to_string(); - let pos: usize = record.position().into(); + pub fn from_vcf( + record: &vcf::variant::RecordBuf, + header: &vcf::Header, + ) -> Result { + use noodles::vcf::variant::record::info::field::key; + + let chrom = record.reference_sequence_name().to_string(); + let pos: usize = record.variant_start().expect("no variant_start?").into(); let pos = pos as i32; - let sv_type: SvType = if let Some(Some(vcf::record::info::field::Value::String(sv_type))) = - record.info().get(&vcf::record::info::field::key::SV_TYPE) - { - sv_type - .as_str() - .parse() - .map_err(|e| anyhow::anyhow!("could not parse SVTYPE {}: {}", &sv_type, e))? - } else { - anyhow::bail!("no INFO/SVTYPE in VCF record") - }; + let sv_type: SvType = + if let Some(Some(vcf::variant::record_buf::info::field::Value::String(sv_type))) = + record.info().get(key::SV_TYPE) + { + sv_type + .parse() + .map_err(|e| anyhow::anyhow!("could not parse SVTYPE {}: {}", &sv_type, e))? + } else { + anyhow::bail!("no INFO/SVTYPE in VCF record") + }; let sv_sub_type = match sv_type { SvType::Del => SvSubType::Del, SvType::Dup => SvSubType::Dup, @@ -1360,24 +1365,21 @@ impl StructuralVariant { SvType::Bnd => SvSubType::Bnd, SvType::Cnv => SvSubType::Cnv, }; - let end = if let Some(Some(vcf::record::info::field::Value::Integer(end))) = record - .info() - .get(&vcf::record::info::field::key::END_POSITION) + let end = if let Some(Some(vcf::variant::record_buf::info::field::Value::Integer(end))) = + record.info().get(key::END_POSITION) { *end } else { anyhow::bail!("no INFO/END in VCF record") }; - let chrom2 = if let Some(Some(vcf::record::info::field::Value::String(chrom2))) = - record.info().get( - &"chr2" - .parse::() - .expect("chr2 invalid key?"), - ) { - Some(chrom2.clone()) - } else { - None - }; + let chrom2 = + if let Some(Some(vcf::variant::record_buf::info::field::Value::String(chrom2))) = + record.info().get("chr2") + { + Some(chrom2.clone()) + } else { + None + }; let strand_orientation = match sv_type { SvType::Del => StrandOrientation::ThreeToFive, @@ -1385,12 +1387,12 @@ impl StructuralVariant { SvType::Inv => StrandOrientation::FiveToFive, SvType::Bnd => { let pe_orientation = Breakend::from_ref_alt_str( - &record.reference_bases().to_string(), - &record + record.reference_bases(), + record .alternate_bases() - .first() - .ok_or_else(|| anyhow::anyhow!("no alternate allele?"))? - .to_string(), + .iter() + .next() + .ok_or_else(|| anyhow::anyhow!("no alternate allele?"))??, )? .pe_orientation; match pe_orientation { @@ -1404,13 +1406,11 @@ impl StructuralVariant { SvType::Ins | SvType::Cnv => StrandOrientation::NotApplicable, }; - let key_callers: vcf::record::info::field::Key = - "callers".parse().expect("callers invalid key?"); - let callers = if let Some(Some(vcf::record::info::field::Value::Array( - vcf::record::info::field::value::Array::String(callers), - ))) = record.info().get(&key_callers) + let callers = if let Some(Some(vcf::variant::record_buf::info::field::Value::Array( + vcf::variant::record_buf::info::field::value::Array::String(callers), + ))) = record.info().get("callers") { - callers.iter().flatten().cloned().collect() + callers.iter().flatten().cloned().collect::>() } else { anyhow::bail!("no INFO/callers in VCF record") }; @@ -1432,113 +1432,80 @@ impl StructuralVariant { /// Build call information. fn build_call_info( - record: &vcf::Record, + record: &vcf::variant::RecordBuf, header: &vcf::Header, ) -> Result, anyhow::Error> { let mut result = IndexMap::new(); - for (name, sample) in header - .sample_names() - .iter() - .zip(record.genotypes().values()) - { - let genotype = if let Some(Some(vcf::record::genotypes::sample::Value::String(gt))) = - sample.get(&vcf::record::genotypes::keys::key::GENOTYPE) - { - Some(gt.clone()) - } else { - None - }; - let quality = if let Some(Some(vcf::record::genotypes::sample::Value::Float(quality))) = - sample.get(&vcf::record::genotypes::keys::key::CONDITIONAL_GENOTYPE_QUALITY) - { - Some(*quality) - } else { - None - }; - let paired_end_cov = - if let Some(Some(vcf::record::genotypes::sample::Value::Integer(paired_end_cov))) = - sample.get(&"pec".parse::()?) - { - Some(*paired_end_cov as u32) - } else { - None - }; - let paired_end_var = - if let Some(Some(vcf::record::genotypes::sample::Value::Integer(paired_end_var))) = - sample.get(&"pev".parse::()?) - { - Some(*paired_end_var as u32) - } else { - None - }; - let split_read_cov = - if let Some(Some(vcf::record::genotypes::sample::Value::Integer(split_read_cov))) = - sample.get(&"src".parse::()?) - { - Some(*split_read_cov as u32) - } else { - None - }; - let split_read_var = - if let Some(Some(vcf::record::genotypes::sample::Value::Integer(split_read_var))) = - sample.get(&"srv".parse::()?) - { - Some(*split_read_var as u32) - } else { - None - }; - let copy_number = - if let Some(Some(vcf::record::genotypes::sample::Value::Integer(copy_number))) = - sample.get(&"cn".parse::()?) - { - Some(*copy_number as u32) - } else { - None - }; - let average_normalized_cov = if let Some(Some( - vcf::record::genotypes::sample::Value::Float(average_normalized_cov), - )) = - sample.get(&"anc".parse::()?) - { - Some(*average_normalized_cov) - } else { - None - }; - let point_count = - if let Some(Some(vcf::record::genotypes::sample::Value::Integer(point_count))) = - sample.get(&"pc".parse::()?) - { - Some(*point_count as u32) + for (name, sample) in header.sample_names().iter().zip(record.samples().values()) { + let mut call_info = CallInfo::default(); + + for (key, value) in record.samples().keys().as_ref().iter().zip(sample.values()) { + let value = if let Some(value) = value.as_ref() { + value } else { - None + continue; // is empty }; - let average_mapping_quality = if let Some(Some( - vcf::record::genotypes::sample::Value::Float(average_mapping_quality), - )) = - sample.get(&"amq".parse::()?) - { - Some(*average_mapping_quality) - } else { - None - }; + use noodles::vcf::variant::record::samples::keys::key; + match (key.as_str(), value) { + ( + key::GENOTYPE, + vcf::variant::record_buf::samples::sample::value::Value::Genotype(gt), + ) => { + call_info.genotype = + Some((genotype_to_string(>)?.as_str()[1..]).to_string()); + } + ( + key::CONDITIONAL_GENOTYPE_QUALITY, + vcf::variant::record_buf::samples::sample::Value::Float(quality), + ) => call_info.quality = Some(*quality), + ( + key::CONDITIONAL_GENOTYPE_QUALITY, + vcf::variant::record_buf::samples::sample::Value::Integer(quality), + ) => call_info.quality = Some(*quality as f32), + ( + "pec", + vcf::variant::record_buf::samples::sample::Value::Integer(paired_end_cov), + ) => call_info.paired_end_cov = Some(*paired_end_cov as u32), + ( + "pev", + vcf::variant::record_buf::samples::sample::Value::Integer(paired_end_var), + ) => call_info.paired_end_var = Some(*paired_end_var as u32), + ( + "src", + vcf::variant::record_buf::samples::sample::Value::Integer(split_read_cov), + ) => call_info.split_read_cov = Some(*split_read_cov as u32), + ( + "srv", + vcf::variant::record_buf::samples::sample::Value::Integer(split_read_var), + ) => call_info.split_read_var = Some(*split_read_var as u32), + ( + "cn", + vcf::variant::record_buf::samples::sample::Value::Integer(copy_number), + ) => call_info.copy_number = Some(*copy_number as u32), + ( + "anc", + vcf::variant::record_buf::samples::sample::Value::Integer( + average_normalized_cov, + ), + ) => call_info.average_normalized_cov = Some(*average_normalized_cov as f32), + ( + "pc", + vcf::variant::record_buf::samples::sample::Value::Integer(point_count), + ) => call_info.point_count = Some(*point_count as u32), + ( + "amq", + vcf::variant::record_buf::samples::sample::Value::Integer( + average_mapping_quality, + ), + ) => call_info.average_mapping_quality = Some(*average_mapping_quality as f32), + _ => { + panic!("unknown FORMAT key: {}", key); + } + } + } - result.insert( - name.clone(), - CallInfo { - genotype, - quality, - paired_end_cov, - paired_end_var, - split_read_cov, - split_read_var, - copy_number, - average_normalized_cov, - point_count, - average_mapping_quality, - ..Default::default() - }, - ); + result.insert(name.clone(), call_info); } Ok(result) diff --git a/src/strucvars/query/snapshots/varfish_server_worker__strucvars__query__test__smoke_test.snap b/src/strucvars/query/snapshots/varfish_server_worker__strucvars__query__test__smoke_test.snap index 6a137b5c..0a5d7459 100644 --- a/src/strucvars/query/snapshots/varfish_server_worker__strucvars__query__test__smoke_test.snap +++ b/src/strucvars/query/snapshots/varfish_server_worker__strucvars__query__test__smoke_test.snap @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:262712dc8b6f0ad9ff006acee09121a44bd8e0273645e72da45da1a5ff988da4 -size 10459 +oid sha256:b492053c9d3c22c3f21816013d9fab7b11400dc33013519254cd16999ed7450a +size 10514 diff --git a/src/strucvars/txt_to_bin/cli.rs b/src/strucvars/txt_to_bin/cli.rs index b1dc5158..9506de71 100644 --- a/src/strucvars/txt_to_bin/cli.rs +++ b/src/strucvars/txt_to_bin/cli.rs @@ -13,36 +13,6 @@ use crate::{ }, }; -/// Select the assembly -#[derive( - clap::ValueEnum, - Clone, - Copy, - Debug, - strum::Display, - PartialEq, - Eq, - enum_map::Enum, - PartialOrd, - Ord, - Hash, -)] -pub enum Assembly { - /// GRCh37 - Grch37, - /// GRCh38 - Grch38, -} - -impl From for crate::strucvars::txt_to_bin::clinvar::input::Assembly { - fn from(val: Assembly) -> Self { - match val { - Assembly::Grch37 => crate::strucvars::txt_to_bin::clinvar::input::Assembly::Grch37, - Assembly::Grch38 => crate::strucvars::txt_to_bin::clinvar::input::Assembly::Grch38, - } - } -} - /// Select input/conversion type. #[derive( clap::ValueEnum, @@ -88,9 +58,6 @@ pub enum InputType { #[derive(Parser, Debug)] #[command(about = "Convert to binary protobuf files", long_about = None)] pub struct Args { - /// Optionally the assembly (required for ClinvarSv) - #[arg(long, value_enum)] - pub assembly: Option, /// Input type to convert to binary. #[arg(long, value_enum)] pub input_type: InputType, @@ -112,13 +79,7 @@ pub fn run(common_args: &crate::common::Args, args: &Args) -> Result<(), anyhow: tracing::info!("Starting conversion..."); match args.input_type { - InputType::ClinvarSv => { - let assembly = args - .assembly - .expect("assembly required for ClinvarSv conversion"); - let assembly: crate::strucvars::txt_to_bin::clinvar::input::Assembly = assembly.into(); - clinvar::convert_to_bin(&args.path_input, &args.path_output, assembly)? - } + InputType::ClinvarSv => clinvar::convert_to_bin(&args.path_input, &args.path_output)?, InputType::StrucvarInhouse => vardbs::convert_to_bin( &args.path_input, &args.path_output, @@ -173,17 +134,12 @@ mod test { use super::{Args, InputType}; #[rstest::rstest] - #[case(crate::strucvars::txt_to_bin::cli::Assembly::Grch37)] - #[case(crate::strucvars::txt_to_bin::cli::Assembly::Grch38)] - fn run_clinvar_sv_smoke( - #[case] assembly: crate::strucvars::txt_to_bin::cli::Assembly, - ) -> Result<(), anyhow::Error> { + fn run_clinvar_sv_smoke() -> Result<(), anyhow::Error> { let tmp_dir = temp_testdir::TempDir::default(); let common_args = common::Args { verbose: Verbosity::new(0, 0), }; let args = Args { - assembly: Some(assembly), input_type: InputType::ClinvarSv, path_input: String::from( "tests/db/to-bin/varfish-db-downloader/vardbs/clinvar/clinvar-svs.jsonl.gz", @@ -203,7 +159,6 @@ mod test { verbose: Verbosity::new(0, 0), }; let args = Args { - assembly: None, input_type: InputType::StrucvarInhouse, path_input: String::from( "tests/db/to-bin/varfish-db-downloader/vardbs/grch37/strucvar/inhouse.tsv", @@ -223,7 +178,6 @@ mod test { verbose: Verbosity::new(0, 0), }; let args = Args { - assembly: None, input_type: InputType::StrucvarDbVar, path_input: String::from( "tests/db/to-bin/varfish-db-downloader/vardbs/grch37/strucvar/dbvar.bed.gz", @@ -243,7 +197,6 @@ mod test { verbose: Verbosity::new(0, 0), }; let args = Args { - assembly: None, input_type: InputType::StrucvarDgv, path_input: String::from( "tests/db/to-bin/varfish-db-downloader/vardbs/grch37/strucvar/dgv.bed.gz", @@ -263,7 +216,6 @@ mod test { verbose: Verbosity::new(0, 0), }; let args = Args { - assembly: None, input_type: InputType::StrucvarDgvGs, path_input: String::from( "tests/db/to-bin/varfish-db-downloader/vardbs/grch37/strucvar/dgv_gs.bed.gz", @@ -283,7 +235,6 @@ mod test { verbose: Verbosity::new(0, 0), }; let args = Args { - assembly: None, input_type: InputType::StrucvarExacCnv, path_input: String::from( "tests/db/to-bin/varfish-db-downloader/vardbs/grch37/strucvar/exac.bed.gz", @@ -303,7 +254,6 @@ mod test { verbose: Verbosity::new(0, 0), }; let args = Args { - assembly: None, input_type: InputType::StrucvarG1k, path_input: String::from( "tests/db/to-bin/varfish-db-downloader/vardbs/grch37/strucvar/g1k.bed.gz", @@ -323,7 +273,6 @@ mod test { verbose: Verbosity::new(0, 0), }; let args = Args { - assembly: None, input_type: InputType::StrucvarGnomadSv2, path_input: String::from( "tests/db/to-bin/varfish-db-downloader/vardbs/grch37/strucvar/gnomad_sv.bed.gz", @@ -343,7 +292,6 @@ mod test { verbose: Verbosity::new(0, 0), }; let args = Args { - assembly: None, input_type: InputType::StrucvarGnomadCnv4, path_input: String::from( "tests/db/to-bin/varfish-db-downloader/vardbs/grch38/strucvar/gnomad-cnv.bed.gz", @@ -363,7 +311,6 @@ mod test { verbose: Verbosity::new(0, 0), }; let args = Args { - assembly: None, input_type: InputType::StrucvarGnomadSv4, path_input: String::from( "tests/db/to-bin/varfish-db-downloader/vardbs/grch38/strucvar/gnomad-sv.bed.gz", @@ -383,7 +330,6 @@ mod test { verbose: Verbosity::new(0, 0), }; let args = Args { - assembly: None, input_type: InputType::MaskedRegion, path_input: String::from( "tests/db/to-bin/varfish-db-downloader/features/grch37/masked/repeat.bed.gz", @@ -403,7 +349,6 @@ mod test { verbose: Verbosity::new(0, 0), }; let args = Args { - assembly: None, input_type: InputType::Xlink, path_input: String::from("tests/db/to-bin/varfish-db-downloader/genes/xlink/hgnc.tsv"), path_output: tmp_dir.join("xlink.bin"), diff --git a/src/strucvars/txt_to_bin/clinvar/input.rs b/src/strucvars/txt_to_bin/clinvar/input.rs deleted file mode 100644 index 401fc311..00000000 --- a/src/strucvars/txt_to_bin/clinvar/input.rs +++ /dev/null @@ -1,316 +0,0 @@ -//! Module with code supporting the parsing. -//! -//! Note that not the full model is implemented, only the parts that are needed for the -//! conversion of the ClinVar structural variants. - -use crate::pbs::clinvar::{Pathogenicity, VariationType}; - -/// Accession of a ClinVar record. -#[derive(Debug, serde::Deserialize, serde::Serialize)] -pub struct ClinVarAccession { - /// Accession string of the record. - pub acc: String, - /// Version of the accession. - pub version: u32, -} - -/// The values of review status are used to build the 'star ratings' displayed on the -/// ClinVar public site. -/// -/// - 0 stars: a conflict or not classified by submitter -/// - 1 star: classified by single submitter -/// - 2 stars: classified by multiple submitters -/// - 3 stars: reviewed by expert panel -/// - 4 stars: reviewed by professional society -#[derive(Debug, serde::Deserialize, serde::Serialize)] -pub enum ReviewStatus { - /// no assertion provided - #[serde(alias = "no assertion provided")] - NoAssertionProvided, - /// no assertion criteria provided - #[serde(alias = "no assertion criteria provided")] - NoAssertionCriteriaProvided, - /// no assertion provided, single submitter - #[serde(alias = "criteria provided, single submitter")] - CriteriaProvidedSingleSubmitter, - /// no assertion provided, multiple submitters, no conflicts - #[serde(alias = "criteria provided, multiple submitters, no conflicts")] - CriteriaProvidedMultipleSubmittersNoConflicts, - /// no assertion provided, conflicting interpretations - #[serde(alias = "criteria provided, conflicting interpretations")] - CriteriaProvidedConflictingInterpretations, - /// reviewed by expert panel - #[serde(alias = "reviewed by expert panel")] - ReviewedByExpertPanel, - /// practice guideline - #[serde(alias = "practice guideline")] - PracticeGuideline, -} - -/// Description of the clinical significance of a variant. -#[derive(Debug, Clone, Copy, serde::Deserialize, serde::Serialize)] -pub enum ClinicalSignificanceDescription { - /// affects - #[serde(alias = "affects")] - Affects, - /// benign - #[serde(alias = "benign")] - Benign, - /// established risk allele - #[serde(alias = "established risk allele")] - EstablishedRiskAllele, - /// likely benign - #[serde(alias = "likely benign")] - LikelyBenign, - /// likely pathogenic - #[serde(alias = "likely pathogenic")] - LikelyPathogenic, - /// likely pathogenic, low penetrance - #[serde(alias = "likely pathogenic, low penetrance")] - LikelyPathogenicLowPenetrance, - /// likely risk allele - #[serde(alias = "likely risk allele")] - LikelyRiskAllele, - /// pathogenic - #[serde(alias = "pathogenic")] - Pathogenic, - /// pathogenic, low penetrance - #[serde(alias = "pathogenic, low penetrance")] - PathogenicLowPenetrance, - /// uncertain risk allele - #[serde(alias = "uncertain risk allele")] - UncertainRiskAllele, - /// uncertain significance - #[serde(alias = "uncertain significance")] - UncertainSignificance, - /// association - #[serde(alias = "association")] - Association, - /// association not found - #[serde(alias = "association not found")] - AssociationNotFound, - /// confers sensitivity - #[serde(alias = "confers sensitivity")] - ConfersSensitivity, - /// conflicting data from submitters - #[serde(alias = "conflicting data from submitters")] - ConflictingDataFromSubmitters, - /// drug response - #[serde(alias = "drug response")] - DrugResponse, - /// not provided - #[serde(alias = "not provided")] - NotProvided, - /// other - #[serde(alias = "other")] - Other, - /// protective - #[serde(alias = "protective")] - Protective, - /// risk factor - #[serde(alias = "risk factor")] - RiskFactory, -} - -impl TryInto for ClinicalSignificanceDescription { - type Error = anyhow::Error; - - fn try_into(self) -> Result { - match self { - ClinicalSignificanceDescription::LikelyBenign => Ok(Pathogenicity::Benign), - ClinicalSignificanceDescription::LikelyPathogenic - | ClinicalSignificanceDescription::LikelyPathogenicLowPenetrance => { - Ok(Pathogenicity::LikelyPathogenic) - } - ClinicalSignificanceDescription::Pathogenic - | ClinicalSignificanceDescription::PathogenicLowPenetrance => { - Ok(Pathogenicity::Pathogenic) - } - ClinicalSignificanceDescription::UncertainSignificance => Ok(Pathogenicity::Uncertain), - ClinicalSignificanceDescription::Benign - | ClinicalSignificanceDescription::Protective => Ok(Pathogenicity::Benign), - _ => anyhow::bail!("unsupported clinical significance: {:?}", self), - } - } -} - -/// Description of the clinical significance of a variant. -#[derive(Debug, serde::Deserialize, serde::Serialize)] -pub struct ClinicalSignificance { - /// Review status of the variant. - pub review_status: ReviewStatus, - /// Description of the clinical significance of a variant. - pub description: ClinicalSignificanceDescription, -} - -/// Identifier of an assembly. -#[derive(Debug, Clone, PartialEq, Eq, Copy, serde::Deserialize, serde::Serialize)] -pub enum Assembly { - /// GRCh38 - #[serde(alias = "GRCh38")] - Grch38, - /// GRCh37 - #[serde(alias = "GRCh37")] - Grch37, - /// NCBI36 - #[serde(alias = "NCBI36")] - Ncib36, -} - -/// Description of a location on a sequence. -#[derive(Debug, serde::Deserialize, serde::Serialize)] -pub struct SequenceLocation { - /// Assembly of the location - pub assembly: Assembly, - /// Chromosome - pub chr: String, - /// Accession of the chromosome - pub accession: Option, - /// Start position - pub start: Option, - /// Stop position, - pub stop: Option, - /// Inner start position - pub inner_start: Option, - /// Inner stop position - pub inner_stop: Option, - /// Outer start position - pub outer_start: Option, - /// Outer stop position - pub outer_stop: Option, - /// Variant length - pub variant_length: Option, - /// Position in VCF format - pub position_vcf: Option, - /// Reference allele in VCF format - pub reference_allele_vcf: Option, - /// Alternate allele in VCF format - pub alternate_allele_vcf: Option, -} - -#[derive(Debug, Clone, Copy, serde::Deserialize, serde::Serialize)] -pub enum MeasureType { - /// Gene - #[serde(alias = "gene")] - Gene, - /// Variation - #[serde(alias = "variation")] - Variation, - /// Insertion - #[serde(alias = "insertion")] - Insertion, - /// Deletion - #[serde(alias = "deletion")] - Deletion, - /// Single nucleotide variant - #[serde(alias = "single nucleotide variant")] - SingleNucleotideVariant, - /// Indel - #[serde(alias = "indel")] - Indel, - /// Duplication - #[serde(alias = "duplication")] - Duplication, - /// Tandem duplication - #[serde(alias = "tandem duplication")] - TandemDuplication, - /// Structural variant - #[serde(alias = "structural variant")] - StructuralVariant, - /// Copy number gain - #[serde(alias = "copy number gain")] - CopyNumberGain, - /// Copy number loss - #[serde(alias = "copy number loss")] - CopyNumberLoss, - /// Protein change only - #[serde(alias = "protein only")] - ProteinOnly, - /// Microsatellite - #[serde(alias = "microsatellite")] - Microsatellite, - // Fusion - #[serde(alias = "fusion")] - Fusion, - /// Inversion - #[serde(alias = "inversion")] - Inversion, - /// Translocation - #[serde(alias = "translocation")] - Translocation, - /// QTL - #[serde(alias = "qtl")] - Qtl, - /// Complex variant - #[serde(alias = "complex")] - Complex, - /// Other variant - #[serde(alias = "other")] - Other, -} - -impl TryInto for MeasureType { - type Error = anyhow::Error; - - fn try_into(self) -> Result { - match self { - MeasureType::Deletion => Ok(VariationType::Del), - MeasureType::Duplication => Ok(VariationType::Dup), - MeasureType::TandemDuplication => Ok(VariationType::Dup), - MeasureType::CopyNumberGain => Ok(VariationType::Dup), - MeasureType::CopyNumberLoss => Ok(VariationType::Del), - MeasureType::Microsatellite => Ok(VariationType::Microsatellite), - MeasureType::Inversion => Ok(VariationType::Inv), - MeasureType::Translocation => Ok(VariationType::Bnd), - MeasureType::Complex => Ok(VariationType::Complex), - MeasureType::SingleNucleotideVariant - | MeasureType::Gene - | MeasureType::Variation - | MeasureType::Insertion - | MeasureType::Indel - | MeasureType::ProteinOnly - | MeasureType::Fusion - | MeasureType::Qtl - | MeasureType::StructuralVariant - | MeasureType::Other => anyhow::bail!("unsupported measure type: {:?}", self), - } - } -} - -/// A single measure / variant. -#[derive(Debug, serde::Deserialize, serde::Serialize)] -pub struct Measure { - /// Type of the measure. - pub r#type: MeasureType, - /// Locations in the sequence, for each assembly. - pub sequence_locations: Vec, -} - -/// A set of measures / variants. -#[derive(Debug, serde::Deserialize, serde::Serialize)] -pub struct MeasureSet { - /// Accession of the record. - pub acc: String, - /// Version of the accession. - pub version: u32, - /// Measures / variants. - pub measures: Vec, -} - -/// A reference ClinVar assertion. -#[derive(Debug, serde::Deserialize, serde::Serialize)] -pub struct ReferenceClinVarAssertion { - /// The ClinVar accession - pub clinvar_accession: ClinVarAccession, - /// The ClinVar significance - pub clinical_significance: ClinicalSignificance, - /// The ClinVar measure set - pub measures: MeasureSet, -} - -/// A ClinVar set. -#[derive(Debug, serde::Deserialize, serde::Serialize)] -pub struct ClinVarSet { - /// The reference ClinVar accession - pub reference_clinvar_assertion: ReferenceClinVarAssertion, -} diff --git a/src/strucvars/txt_to_bin/clinvar/mod.rs b/src/strucvars/txt_to_bin/clinvar/mod.rs index c25f644e..0a45b020 100644 --- a/src/strucvars/txt_to_bin/clinvar/mod.rs +++ b/src/strucvars/txt_to_bin/clinvar/mod.rs @@ -11,13 +11,13 @@ use crate::{ pbs::clinvar::{Pathogenicity, SvDatabase, SvRecord}, }; -pub mod input; +// pub mod input; /// Helper to convert RCV IDs to numbers. -fn numeric_rcv_id(raw_id: &str) -> Result { +fn numeric_id(raw_id: &str, prefix: &str) -> Result { let clean_id: String = raw_id .chars() - .skip("RCV".len()) + .skip(prefix.len()) .skip_while(|c| *c == '0') .collect(); clean_id @@ -26,10 +26,7 @@ fn numeric_rcv_id(raw_id: &str) -> Result { } /// Read JSONL file and convert to protobuf records. -fn convert_jsonl_to_protobuf( - reader: Box, - assembly: input::Assembly, -) -> Result, anyhow::Error> { +fn convert_jsonl_to_protobuf(reader: Box) -> Result, anyhow::Error> { let chrom_map = build_chrom_map(); let mut records = Vec::new(); @@ -43,111 +40,159 @@ fn convert_jsonl_to_protobuf( // deserialize JSONL record from line let record = serde_json::from_str(&line); - let record = match record { + let record: annonars::pbs::clinvar_data::extracted_vars::ExtractedVcvRecord = match record { Err(e) => { tracing::warn!("error deserializing JSONL record: \"{}\" in {}", e, &line); continue; } - Ok(record) => { - let record: input::ClinVarSet = record; - record - } + Ok(record) => record, }; - let rcv = numeric_rcv_id(&record.reference_clinvar_assertion.clinvar_accession.acc)?; + // Extract VCV and RCV accessions as numeric. + let vcv = numeric_id(&record.accession.expect("no VCV?").accession, "VCV")?; + // TODO: drop RCV eventually as it is not so useful but VCV was not readily available earlier. + let rcv = if record.rcvs.is_empty() { + 0 + } else { + numeric_id( + &record.rcvs[0] + .accession + .as_ref() + .expect("no RCV?") + .accession, + "RCV", + )? + }; - // convert from JSONL to protocolbuffers: pathogenicity - let pathogenicity: Result = record - .reference_clinvar_assertion - .clinical_significance - .description - .try_into(); - let pathogenicity = if let Ok(pathogenicity) = pathogenicity { - pathogenicity as i32 + // Obtain germline classification and skip if not set. + // TODO: later also support somatic classification + let agc = if let Some(agc) = record + .classifications + .as_ref() + .expect("no classifications?") + .germline_classification + .as_ref() + { + agc } else { - continue; + continue; // no germline classification, skip }; - // there can be multiple measures, we consider them all - for measure in &record.reference_clinvar_assertion.measures.measures { - // convert from JSONL to protocolbuffers: variation type - let variation_type: Result = - measure.r#type.try_into(); - let variation_type = if let Ok(variation_type) = variation_type { - variation_type as i32 - } else { + // Convert pathogenicity from upstream to internal protocolbuffers + let pathogenicity = match agc + .description + .clone() + .unwrap_or_default() + .to_lowercase() + .as_str() + { + "benign" => Pathogenicity::Benign, + "benign/likely benign" => Pathogenicity::Benign, + "likely benign" => Pathogenicity::LikelyBenign, + "pathogenic" => Pathogenicity::Pathogenic, + "pathogenic/likely pathogenic" => Pathogenicity::LikelyPathogenic, + "likely pathogenic" => Pathogenicity::LikelyPathogenic, + "uncertain significance" => Pathogenicity::Uncertain, + // NB: we need to improve the protobuf enum + "conflicting classifications of pathogenicity" => Pathogenicity::Uncertain, + _ => { continue; - }; - - // we process sequence locations on the selected assembly - for sl in &measure.sequence_locations { - if sl.assembly != assembly { - continue; - } - let chrom_no = if let Some(chrom_no) = chrom_map.get(&sl.chr) { - *chrom_no as i32 - } else { - tracing::warn!("unknown chromosome {}", &sl.chr); - continue; - }; - - if let (Some(start), Some(stop)) = (sl.start, sl.stop) { - records.push(SvRecord { - chrom_no, - start, - stop, - variation_type, - pathogenicity, - rcv, - }); - } else if let (Some(inner_start), Some(inner_stop)) = - (sl.inner_start, sl.inner_stop) - { - records.push(SvRecord { - chrom_no, - start: inner_start, - stop: inner_stop, - variation_type, - pathogenicity, - rcv, - }); - } else if let (Some(outer_start), Some(outer_stop)) = - (sl.outer_start, sl.outer_stop) - { - records.push(SvRecord { - chrom_no, - start: outer_start, - stop: outer_stop, - variation_type, - pathogenicity, - rcv, - }); - } else if let (Some(position_vcf), Some(reference_allele_vcf), Some(_)) = ( - sl.position_vcf, - sl.reference_allele_vcf.as_ref(), - sl.alternate_allele_vcf.as_ref(), - ) { - records.push(SvRecord { - chrom_no, - start: position_vcf + 1, - stop: position_vcf + reference_allele_vcf.len() as i32, - variation_type, - pathogenicity, - rcv, - }); - } } + }; + + // Convert variation type from upstream to internal protocolbuffers. + let variation_type = match annonars::pbs::clinvar_data::extracted_vars::VariationType::try_from(record.variation_type) { + Ok(variation_type) => match variation_type { + annonars::pbs::clinvar_data::extracted_vars::VariationType::Unspecified => continue, + annonars::pbs::clinvar_data::extracted_vars::VariationType::Insertion => crate::pbs::clinvar::VariationType::Ins, + annonars::pbs::clinvar_data::extracted_vars::VariationType::Deletion => crate::pbs::clinvar::VariationType::Del, + annonars::pbs::clinvar_data::extracted_vars::VariationType::Snv => continue, + annonars::pbs::clinvar_data::extracted_vars::VariationType::Indel => continue, + annonars::pbs::clinvar_data::extracted_vars::VariationType::Duplication => crate::pbs::clinvar::VariationType::Dup, + annonars::pbs::clinvar_data::extracted_vars::VariationType::TandemDuplication => crate::pbs::clinvar::VariationType::Dup, + annonars::pbs::clinvar_data::extracted_vars::VariationType::StructuralVariant => crate::pbs::clinvar::VariationType::Complex, + annonars::pbs::clinvar_data::extracted_vars::VariationType::CopyNumberGain => crate::pbs::clinvar::VariationType::Dup, + annonars::pbs::clinvar_data::extracted_vars::VariationType::CopyNumberLoss => crate::pbs::clinvar::VariationType::Del, + annonars::pbs::clinvar_data::extracted_vars::VariationType::ProteinOnly => continue, + annonars::pbs::clinvar_data::extracted_vars::VariationType::Microsatellite => crate::pbs::clinvar::VariationType::Microsatellite, + annonars::pbs::clinvar_data::extracted_vars::VariationType::Inversion => crate::pbs::clinvar::VariationType::Inv, + annonars::pbs::clinvar_data::extracted_vars::VariationType::Other => continue, + }, + Err(_) => { + tracing::warn!("unknown variation type: {}", record.variation_type); + continue; + } + }; + + // Finally, extract sequence location and add record. + let sl = record + .sequence_location + .as_ref() + .expect("no sequence_location"); + let chrom = annonars::pbs::clinvar_data::clinvar_public::Chromosome::try_from(sl.chr) + .map_err(|e| anyhow::anyhow!("invalid chromosome: {}: {}", sl.chr, e))? + .as_str_name() + .strip_prefix("CHROMOSOME_") + .map(|s| s.to_string()) + .unwrap_or_default(); + let chrom_no = if let Some(chrom_no) = chrom_map.get(&chrom) { + *chrom_no as i32 + } else { + tracing::warn!("unknown chromosome {}", &sl.chr); + continue; + }; + + if let (Some(start), Some(stop)) = (sl.start, sl.stop) { + records.push(SvRecord { + chrom_no, + start: start as i32, + stop: stop as i32, + variation_type: variation_type as i32, + pathogenicity: pathogenicity as i32, + rcv, + vcv, + }); + } else if let (Some(inner_start), Some(inner_stop)) = (sl.inner_start, sl.inner_stop) { + records.push(SvRecord { + chrom_no, + start: inner_start as i32, + stop: inner_stop as i32, + variation_type: variation_type as i32, + pathogenicity: pathogenicity as i32, + rcv, + vcv, + }); + } else if let (Some(outer_start), Some(outer_stop)) = (sl.outer_start, sl.outer_stop) { + records.push(SvRecord { + chrom_no, + start: outer_start as i32, + stop: outer_stop as i32, + variation_type: variation_type as i32, + pathogenicity: pathogenicity as i32, + rcv, + vcv, + }); + } else if let (Some(position_vcf), Some(reference_allele_vcf), Some(_)) = ( + sl.position_vcf, + sl.reference_allele_vcf.as_ref(), + sl.alternate_allele_vcf.as_ref(), + ) { + records.push(SvRecord { + chrom_no, + start: position_vcf as i32 + 1, + stop: position_vcf as i32 + reference_allele_vcf.len() as i32, + variation_type: variation_type as i32, + pathogenicity: pathogenicity as i32, + rcv, + vcv, + }); } } Ok(records) } /// Perform conversion to protocolbuffers `.bin` file. -pub fn convert_to_bin( - path_input_jsonl: P, - path_output: Q, - assembly: input::Assembly, -) -> Result<(), anyhow::Error> +pub fn convert_to_bin(path_input_jsonl: P, path_output: Q) -> Result<(), anyhow::Error> where P: AsRef, Q: AsRef, @@ -155,7 +200,7 @@ where let reader = open_read_maybe_gz(path_input_jsonl)?; let before_parsing = Instant::now(); - let records = convert_jsonl_to_protobuf(reader, assembly)?; + let records = convert_jsonl_to_protobuf(reader)?; let clinvar_db = SvDatabase { records }; @@ -181,17 +226,13 @@ where #[cfg(test)] mod test { - use crate::strucvars::txt_to_bin::clinvar::input::Assembly; - + #[tracing_test::traced_test] #[rstest::rstest] - #[case(Assembly::Grch37)] - #[case(Assembly::Grch38)] - fn run_convert_jsonl_to_protobuf(#[case] assembly: Assembly) -> Result<(), anyhow::Error> { - mehari::common::set_snapshot_suffix!("{:?}", assembly); + fn run_convert_jsonl_to_protobuf() -> Result<(), anyhow::Error> { let reader = mehari::common::io::std::open_read_maybe_gz( "tests/db/to-bin/varfish-db-downloader/vardbs/clinvar/clinvar-svs.jsonl", )?; - let records = super::convert_jsonl_to_protobuf(reader, assembly)?; + let records = super::convert_jsonl_to_protobuf(reader)?; insta::assert_yaml_snapshot!(records); diff --git a/src/strucvars/txt_to_bin/clinvar/snapshots/varfish_server_worker__strucvars__txt_to_bin__clinvar__test__run_convert_jsonl_to_protobuf.snap b/src/strucvars/txt_to_bin/clinvar/snapshots/varfish_server_worker__strucvars__txt_to_bin__clinvar__test__run_convert_jsonl_to_protobuf.snap new file mode 100644 index 00000000..19287d51 --- /dev/null +++ b/src/strucvars/txt_to_bin/clinvar/snapshots/varfish_server_worker__strucvars__txt_to_bin__clinvar__test__run_convert_jsonl_to_protobuf.snap @@ -0,0 +1,3061 @@ +--- +source: src/strucvars/txt_to_bin/clinvar/mod.rs +expression: records +--- +- chromNo: 5 + start: 65767621 + stop: 66030608 + variationType: Del + pathogenicity: Pathogenic + rcv: 566 + vcv: 536 +- chromNo: 9 + start: 126093238 + stop: 126093305 + variationType: Del + pathogenicity: Pathogenic + rcv: 197 + vcv: 174 +- chromNo: 10 + start: 35010771 + stop: 35014683 + variationType: Del + pathogenicity: Pathogenic + rcv: 2200 + vcv: 2119 +- chromNo: 10 + start: 34999671 + stop: 34999729 + variationType: Del + pathogenicity: Pathogenic + rcv: 2193 + vcv: 2112 +- chromNo: 4 + start: 138311134 + stop: 138369402 + variationType: Del + pathogenicity: Pathogenic + rcv: 2749 + vcv: 2631 +- chromNo: 12 + start: 77574551 + stop: 77575150 + variationType: Del + pathogenicity: Pathogenic + rcv: 2680 + vcv: 2571 +- chromNo: 2 + start: 100986081 + stop: 100987929 + variationType: Del + pathogenicity: Pathogenic + rcv: 3725 + vcv: 3547 +- chromNo: 7 + start: 53536328 + stop: 53598019 + variationType: Del + pathogenicity: Pathogenic + rcv: 4182 + vcv: 3976 +- chromNo: 7 + start: 53537321 + stop: 53574220 + variationType: Del + pathogenicity: Pathogenic + rcv: 4183 + vcv: 3977 +- chromNo: 2 + start: 148844501 + stop: 148848419 + variationType: Del + pathogenicity: Pathogenic + rcv: 4871 + vcv: 4608 +- chromNo: 5 + start: 144498026 + stop: 144517214 + variationType: Del + pathogenicity: Pathogenic + rcv: 5580 + vcv: 5264 +- chromNo: 1 + start: 32358735 + stop: 32358736 + variationType: Dup + pathogenicity: Pathogenic + rcv: 6031 + vcv: 5677 +- chromNo: 4 + start: 1812546 + stop: 1816720 + variationType: Del + pathogenicity: Pathogenic + rcv: 6388 + vcv: 6017 +- chromNo: 4 + start: 77436046 + stop: 77444215 + variationType: Del + pathogenicity: Pathogenic + rcv: 6747 + vcv: 6375 +- chromNo: 12 + start: 100634495 + stop: 100634496 + variationType: Ins + pathogenicity: Pathogenic + rcv: 7016 + vcv: 6637 +- start: 8022846 + stop: 8037799 + variationType: Del + pathogenicity: Pathogenic + rcv: 7479 + vcv: 7063 +- chromNo: 8 + start: 139570503 + stop: 139571539 + variationType: Del + pathogenicity: Pathogenic + rcv: 7011 + vcv: 6632 +- chromNo: 7 + start: 119932595 + stop: 120030098 + variationType: Del + pathogenicity: Pathogenic + rcv: 7383 + vcv: 6968 +- chromNo: 4 + start: 118835010 + stop: 118835246 + variationType: Del + pathogenicity: Pathogenic + rcv: 8093 + vcv: 7654 +- chromNo: 4 + start: 118837734 + stop: 118837785 + variationType: Del + pathogenicity: Pathogenic + rcv: 8092 + vcv: 7653 +- chromNo: 2 + start: 48921429 + stop: 48921556 + variationType: Del + pathogenicity: Pathogenic + rcv: 12916 + vcv: 12133 +- chromNo: 5 + start: 129805906 + stop: 129810893 + variationType: Del + pathogenicity: Pathogenic + rcv: 15373 + vcv: 14303 +- chromNo: 10 + start: 5248144 + stop: 5255556 + variationType: Del + pathogenicity: Pathogenic + rcv: 16213 + vcv: 15063 +- chromNo: 2 + start: 128891444 + stop: 128891447 + variationType: Microsatellite + pathogenicity: Pathogenic + rcv: 19124 + vcv: 17564 +- start: 33473829 + stop: 33478866 + variationType: Del + pathogenicity: Pathogenic + rcv: 19912 + vcv: 18250 +- start: 196712928 + stop: 196797494 + variationType: Del + pathogenicity: Pathogenic + rcv: 20179 + vcv: 21089 +- chromNo: 11 + start: 54308194 + stop: 54335815 + variationType: Del + pathogenicity: Pathogenic + rcv: 33004 + vcv: 39782 +- chromNo: 4 + start: 103822591 + stop: 103842542 + variationType: Del + pathogenicity: Pathogenic + rcv: 33864 + vcv: 40972 +- chromNo: 14 + start: 44862154 + stop: 44870476 + variationType: Del + pathogenicity: Pathogenic + rcv: 34230 + vcv: 41329 +- chromNo: 21 + start: 34150132 + stop: 34182300 + variationType: Del + pathogenicity: Pathogenic + rcv: 51361 + vcv: 57627 +- chromNo: 11 + start: 116457223 + stop: 116492163 + variationType: Del + pathogenicity: Pathogenic + rcv: 51340 + vcv: 57607 +- chromNo: 22 + start: 73055208 + stop: 73059460 + variationType: Del + pathogenicity: Uncertain + rcv: 51388 + vcv: 57653 +- chromNo: 22 + start: 78605903 + stop: 79090819 + variationType: Del + pathogenicity: Uncertain + rcv: 51389 + vcv: 57654 +- chromNo: 22 + start: 5017631 + stop: 5025327 + variationType: Del + pathogenicity: Uncertain + rcv: 51429 + vcv: 57691 +- chromNo: 22 + start: 155058022 + stop: 155209034 + variationType: Del + pathogenicity: Uncertain + rcv: 51430 + vcv: 57692 +- chromNo: 23 + start: 19585515 + stop: 20802602 + variationType: Del + pathogenicity: Uncertain + rcv: 51456 + vcv: 57717 +- chromNo: 23 + start: 24174296 + stop: 24495632 + variationType: Del + pathogenicity: Uncertain + rcv: 51457 + vcv: 57718 +- chromNo: 14 + start: 25118923 + stop: 25166966 + variationType: Del + pathogenicity: Pathogenic + rcv: 51582 + vcv: 57842 +- chromNo: 3 + start: 150877557 + stop: 151040992 + variationType: Dup + pathogenicity: Uncertain + rcv: 51635 + vcv: 57895 +- chromNo: 22 + start: 76746094 + stop: 76780189 + variationType: Del + pathogenicity: Pathogenic + rcv: 51667 + vcv: 57925 +- chromNo: 23 + start: 2078852 + stop: 2393418 + variationType: Del + pathogenicity: Pathogenic + rcv: 51766 + vcv: 58023 +- start: 147400637 + stop: 149813625 + variationType: Dup + pathogenicity: Pathogenic + rcv: 51850 + vcv: 58105 +- chromNo: 4 + start: 149747884 + stop: 149776406 + variationType: Dup + pathogenicity: Pathogenic + rcv: 51864 + vcv: 58119 +- chromNo: 12 + start: 92084151 + stop: 92280466 + variationType: Del + pathogenicity: Uncertain + rcv: 51923 + vcv: 58176 +- chromNo: 14 + start: 30931844 + stop: 31038754 + variationType: Del + pathogenicity: Uncertain + rcv: 51952 + vcv: 58205 +- chromNo: 12 + start: 114739949 + stop: 115085141 + variationType: Dup + pathogenicity: Uncertain + rcv: 52036 + vcv: 58285 +- chromNo: 1 + start: 50661 + stop: 140943 + variationType: Del + pathogenicity: Uncertain + rcv: 52100 + vcv: 58347 +- chromNo: 1 + start: 51292570 + stop: 51471786 + variationType: Del + pathogenicity: Uncertain + rcv: 52122 + vcv: 58369 +- chromNo: 5 + start: 124437486 + stop: 124820793 + variationType: Del + pathogenicity: Pathogenic + rcv: 52198 + vcv: 58444 +- chromNo: 7 + start: 50613817 + stop: 51775130 + variationType: Dup + pathogenicity: Uncertain + rcv: 52171 + vcv: 58417 +- chromNo: 22 + start: 497861 + stop: 679626 + variationType: Dup + pathogenicity: Uncertain + rcv: 52290 + vcv: 58521 +- start: 196757278 + stop: 196796716 + variationType: Del + pathogenicity: Pathogenic + rcv: 52307 + vcv: 58538 +- chromNo: 6 + start: 27194426 + stop: 27461954 + variationType: Del + pathogenicity: Pathogenic + rcv: 52313 + vcv: 58544 +- chromNo: 22 + start: 18661700 + stop: 18856859 + variationType: Dup + pathogenicity: Pathogenic + rcv: 52365 + vcv: 58592 +- chromNo: 22 + start: 28777940 + stop: 29112528 + variationType: Dup + pathogenicity: Pathogenic + rcv: 52386 + vcv: 58611 +- chromNo: 22 + start: 29731388 + stop: 29759068 + variationType: Dup + pathogenicity: Pathogenic + rcv: 52387 + vcv: 58612 +- chromNo: 22 + start: 32680483 + stop: 32777081 + variationType: Dup + pathogenicity: Pathogenic + rcv: 52389 + vcv: 58614 +- chromNo: 15 + start: 3800306 + stop: 3819723 + variationType: Dup + pathogenicity: Pathogenic + rcv: 52398 + vcv: 58623 +- chromNo: 22 + start: 105135228 + stop: 105669012 + variationType: Dup + pathogenicity: Pathogenic + rcv: 52442 + vcv: 58665 +- chromNo: 22 + start: 76703995 + stop: 77038914 + variationType: Dup + pathogenicity: Pathogenic + rcv: 52420 + vcv: 58644 +- chromNo: 10 + start: 31521964 + stop: 31561279 + variationType: Del + pathogenicity: Pathogenic + rcv: 52650 + vcv: 58860 +- chromNo: 23 + start: 2651665 + stop: 4972987 + variationType: Dup + pathogenicity: Pathogenic + rcv: 52584 + vcv: 58795 +- chromNo: 23 + start: 2654967 + stop: 2862993 + variationType: Dup + pathogenicity: Pathogenic + rcv: 52589 + vcv: 58800 +- chromNo: 5 + start: 135719028 + stop: 135727855 + variationType: Del + pathogenicity: Uncertain + rcv: 52619 + vcv: 58830 +- chromNo: 6 + start: 146669919 + stop: 146755110 + variationType: Del + pathogenicity: Uncertain + rcv: 52724 + vcv: 58932 +- chromNo: 19 + start: 62838038 + stop: 62893189 + variationType: Del + pathogenicity: Pathogenic + rcv: 52774 + vcv: 58980 +- chromNo: 6 + start: 18677922 + stop: 18836920 + variationType: Del + pathogenicity: Uncertain + rcv: 52653 + vcv: 58863 +- chromNo: 20 + start: 10953431 + stop: 15707444 + variationType: Del + pathogenicity: Pathogenic + rcv: 52775 + vcv: 58981 +- chromNo: 1 + start: 124727329 + stop: 125011247 + variationType: Dup + pathogenicity: Uncertain + rcv: 52692 + vcv: 58901 +- chromNo: 7 + start: 51390997 + stop: 51703556 + variationType: Del + pathogenicity: Uncertain + rcv: 52785 + vcv: 58991 +- chromNo: 20 + start: 35740989 + stop: 35901381 + variationType: Dup + pathogenicity: Uncertain + rcv: 52826 + vcv: 59032 +- chromNo: 10 + start: 103199536 + stop: 103441625 + variationType: Del + pathogenicity: Pathogenic + rcv: 52712 + vcv: 58920 +- chromNo: 6 + start: 146349600 + stop: 146467532 + variationType: Del + pathogenicity: Uncertain + rcv: 52721 + vcv: 58929 +- chromNo: 8 + start: 2682523 + stop: 2784028 + variationType: Del + pathogenicity: Uncertain + rcv: 52850 + vcv: 59054 +- chromNo: 7 + start: 15952782 + stop: 16021744 + variationType: Del + pathogenicity: Uncertain + rcv: 52753 + vcv: 58960 +- chromNo: 21 + start: 18905109 + stop: 19015451 + variationType: Del + pathogenicity: Pathogenic + rcv: 52868 + vcv: 59071 +- chromNo: 8 + start: 98227972 + stop: 98230831 + variationType: Del + pathogenicity: Pathogenic + rcv: 52920 + vcv: 59122 +- chromNo: 20 + start: 35740918 + stop: 35900417 + variationType: Dup + pathogenicity: Uncertain + rcv: 52825 + vcv: 59031 +- chromNo: 1 + start: 200143328 + stop: 200237265 + variationType: Dup + pathogenicity: Pathogenic + rcv: 52961 + vcv: 59161 +- chromNo: 8 + start: 20380585 + stop: 20478576 + variationType: Del + pathogenicity: Pathogenic + rcv: 52901 + vcv: 59103 +- chromNo: 1 + start: 200174658 + stop: 200268525 + variationType: Dup + pathogenicity: Pathogenic + rcv: 52962 + vcv: 59162 +- chromNo: 21 + start: 18890271 + stop: 18999862 + variationType: Del + pathogenicity: Pathogenic + rcv: 52867 + vcv: 59070 +- chromNo: 22 + start: 77245 + stop: 187157 + variationType: Del + pathogenicity: Pathogenic + rcv: 52992 + vcv: 59188 +- chromNo: 1 + start: 145219415 + stop: 145422833 + variationType: Dup + pathogenicity: Pathogenic + rcv: 52949 + vcv: 59149 +- chromNo: 22 + start: 6750949 + stop: 6824084 + variationType: Del + pathogenicity: Pathogenic + rcv: 53054 + vcv: 59233 +- chromNo: 22 + start: 22117253 + stop: 22127885 + variationType: Del + pathogenicity: Pathogenic + rcv: 53062 + vcv: 59240 +- chromNo: 22 + start: 32451074 + stop: 32841556 + variationType: Del + pathogenicity: Pathogenic + rcv: 53086 + vcv: 59263 +- start: 66491844 + stop: 66746070 + variationType: Del + pathogenicity: Uncertain + rcv: 53198 + vcv: 59361 +- start: 66435592 + stop: 66594217 + variationType: Del + pathogenicity: Uncertain + rcv: 53197 + vcv: 59360 +- chromNo: 9 + start: 84082310 + stop: 84118852 + variationType: Del + pathogenicity: Uncertain + rcv: 53242 + vcv: 59400 +- start: 103381480 + stop: 103431911 + variationType: Del + pathogenicity: Pathogenic + rcv: 53880 + vcv: 60008 +- chromNo: 16 + start: 29550192 + stop: 29573353 + variationType: Del + pathogenicity: Pathogenic + rcv: 53428 + vcv: 59585 +- chromNo: 1 + start: 51078393 + stop: 51222267 + variationType: Del + pathogenicity: Pathogenic + rcv: 54018 + vcv: 60144 +- chromNo: 22 + start: 8663761 + stop: 8668169 + variationType: Dup + pathogenicity: Uncertain + rcv: 54138 + vcv: 60264 +- chromNo: 22 + start: 46315844 + stop: 46336363 + variationType: Dup + pathogenicity: Uncertain + rcv: 54181 + vcv: 60305 +- chromNo: 19 + start: 41188651 + stop: 41342196 + variationType: Del + pathogenicity: Uncertain + rcv: 53850 + vcv: 59978 +- start: 230829506 + stop: 230915958 + variationType: Del + pathogenicity: Pathogenic + rcv: 53984 + vcv: 60111 +- chromNo: 20 + start: 35292816 + stop: 36834601 + variationType: Dup + pathogenicity: Pathogenic + rcv: 53070 + vcv: 59248 +- chromNo: 3 + start: 158306273 + stop: 158428068 + variationType: Del + pathogenicity: Uncertain + rcv: 54076 + vcv: 60202 +- chromNo: 4 + start: 11388883 + stop: 11462401 + variationType: Del + pathogenicity: Uncertain + rcv: 54100 + vcv: 60226 +- chromNo: 1 + start: 166900946 + stop: 166936297 + variationType: Del + pathogenicity: Pathogenic + rcv: 54125 + vcv: 60251 +- chromNo: 4 + start: 21852834 + stop: 21964183 + variationType: Del + pathogenicity: Uncertain + rcv: 54131 + vcv: 60257 +- chromNo: 9 + start: 68303956 + stop: 68516578 + variationType: Del + pathogenicity: Uncertain + rcv: 53241 + vcv: 59399 +- chromNo: 22 + start: 32738179 + stop: 32815490 + variationType: Dup + pathogenicity: Uncertain + rcv: 54163 + vcv: 60289 +- chromNo: 22 + start: 53401663 + stop: 53570722 + variationType: Dup + pathogenicity: Uncertain + rcv: 54186 + vcv: 60310 +- chromNo: 22 + start: 67494693 + stop: 67572173 + variationType: Dup + pathogenicity: Uncertain + rcv: 54201 + vcv: 60325 +- chromNo: 22 + start: 77085352 + stop: 77113548 + variationType: Dup + pathogenicity: Uncertain + rcv: 54213 + vcv: 60335 +- chromNo: 22 + start: 660563 + stop: 818762 + variationType: Dup + pathogenicity: Uncertain + rcv: 54233 + vcv: 60355 +- chromNo: 22 + start: 122603383 + stop: 122723979 + variationType: Dup + pathogenicity: Uncertain + rcv: 54244 + vcv: 60366 +- chromNo: 5 + start: 162262196 + stop: 162425681 + variationType: Dup + pathogenicity: Uncertain + rcv: 53392 + vcv: 59549 +- chromNo: 6 + start: 33169715 + stop: 33186579 + variationType: Dup + pathogenicity: Uncertain + rcv: 53437 + vcv: 59594 +- chromNo: 6 + start: 109319033 + stop: 110123840 + variationType: Dup + pathogenicity: Uncertain + rcv: 53501 + vcv: 59651 +- start: 45303803 + stop: 45307152 + variationType: Del + pathogenicity: Pathogenic + rcv: 53838 + vcv: 59967 +- chromNo: 2 + start: 60445746 + stop: 60517859 + variationType: Del + pathogenicity: Uncertain + rcv: 53956 + vcv: 60084 +- chromNo: 1 + start: 50712339 + stop: 50758351 + variationType: Del + pathogenicity: Pathogenic + rcv: 53983 + vcv: 60110 +- chromNo: 22 + start: 79884715 + stop: 80017999 + variationType: Dup + pathogenicity: Uncertain + rcv: 54214 + vcv: 60336 +- chromNo: 23 + start: 19585515 + stop: 20874428 + variationType: Dup + pathogenicity: Uncertain + rcv: 54353 + vcv: 60453 +- start: 156844810 + stop: 156846190 + variationType: Del + pathogenicity: Pathogenic + rcv: 55678 + vcv: 65491 +- chromNo: 9 + start: 28270060 + stop: 28275320 + variationType: Del + pathogenicity: Pathogenic + rcv: 56283 + vcv: 66044 +- chromNo: 22 + start: 152961800 + stop: 152967144 + variationType: Del + pathogenicity: Pathogenic + rcv: 59315 + vcv: 68445 +- chromNo: 11 + start: 56424828 + stop: 56445284 + variationType: Del + pathogenicity: Pathogenic + rcv: 74477 + vcv: 88979 +- chromNo: 19 + start: 49557402 + stop: 49565201 + variationType: Del + pathogenicity: Pathogenic + rcv: 87037 + vcv: 100637 +- chromNo: 1 + start: 198570810 + stop: 198571077 + variationType: Del + pathogenicity: Pathogenic + rcv: 87059 + vcv: 100659 +- chromNo: 16 + start: 4914761 + stop: 4918508 + variationType: Del + pathogenicity: Pathogenic + rcv: 87326 + vcv: 101069 +- chromNo: 22 + start: 68059111 + stop: 68067499 + variationType: Del + pathogenicity: Pathogenic + rcv: 87028 + vcv: 100628 +- chromNo: 22 + start: 77085352 + stop: 77113548 + variationType: Dup + pathogenicity: Uncertain + rcv: 133599 + vcv: 144097 +- chromNo: 22 + start: 8595045 + stop: 8704378 + variationType: Dup + pathogenicity: Uncertain + rcv: 52335 + vcv: 144128 +- start: 143646652 + stop: 143908838 + variationType: Del + rcv: 134190 + vcv: 144786 +- start: 147909430 + stop: 147962225 + variationType: Dup + rcv: 134187 + vcv: 144783 +- start: 142604414 + stop: 142642753 + variationType: Dup + rcv: 134194 + vcv: 144790 +- start: 2582760 + stop: 2633368 + variationType: Del + rcv: 134206 + vcv: 144802 +- start: 145194054 + stop: 145361282 + variationType: Dup + rcv: 134188 + vcv: 144784 +- start: 151333124 + stop: 151399960 + variationType: Dup + rcv: 134207 + vcv: 144803 +- start: 142604414 + stop: 142642753 + variationType: Del + rcv: 134196 + vcv: 144792 +- start: 238676252 + stop: 238753428 + variationType: Dup + rcv: 134218 + vcv: 144814 +- start: 49959425 + stop: 50049480 + variationType: Del + rcv: 134215 + vcv: 144811 +- start: 2590844 + stop: 2605254 + variationType: Dup + rcv: 134222 + vcv: 144818 +- start: 2582760 + stop: 2633368 + variationType: Dup + rcv: 134204 + vcv: 144800 +- chromNo: 1 + start: 35821806 + stop: 35956621 + variationType: Del + rcv: 134223 + vcv: 144819 +- start: 143504612 + stop: 143540851 + variationType: Dup + rcv: 134216 + vcv: 144812 +- start: 147897667 + stop: 147909430 + variationType: Dup + rcv: 134220 + vcv: 144816 +- chromNo: 1 + start: 51049645 + stop: 51122091 + variationType: Del + rcv: 134242 + vcv: 144838 +- chromNo: 2 + start: 195358277 + stop: 195425875 + variationType: Dup + rcv: 134247 + vcv: 144843 +- chromNo: 2 + start: 1840279 + stop: 1922459 + variationType: Dup + rcv: 134254 + vcv: 144850 +- chromNo: 2 + start: 85457457 + stop: 85615568 + variationType: Del + rcv: 134259 + vcv: 144855 +- chromNo: 2 + start: 60088353 + stop: 60240457 + variationType: Del + rcv: 134266 + vcv: 144862 +- start: 120556740 + stop: 120635392 + variationType: Dup + rcv: 134189 + vcv: 144785 +- chromNo: 2 + start: 195358277 + stop: 195425875 + variationType: Dup + rcv: 134248 + vcv: 144844 +- chromNo: 3 + start: 33520754 + stop: 33717980 + variationType: Dup + rcv: 134278 + vcv: 144874 +- start: 49929425 + stop: 49988076 + variationType: Del + rcv: 134201 + vcv: 144797 +- chromNo: 3 + start: 4166772 + stop: 4249253 + variationType: Dup + rcv: 134275 + vcv: 144871 +- chromNo: 4 + start: 180765809 + stop: 180890113 + variationType: Dup + rcv: 134282 + vcv: 144878 +- chromNo: 3 + start: 186638639 + stop: 186659293 + variationType: Dup + rcv: 134279 + vcv: 144875 +- chromNo: 4 + start: 180783055 + stop: 180825790 + variationType: Del + rcv: 134286 + vcv: 144882 +- chromNo: 2 + start: 22120611 + stop: 22255029 + variationType: Del + rcv: 134264 + vcv: 144860 +- start: 243949931 + stop: 244033798 + variationType: Del + pathogenicity: Pathogenic + rcv: 134209 + vcv: 144805 +- chromNo: 4 + start: 180765809 + stop: 180875621 + variationType: Dup + rcv: 134283 + vcv: 144879 +- start: 187644027 + stop: 187745698 + variationType: Del + rcv: 134217 + vcv: 144813 +- chromNo: 4 + start: 7422161 + stop: 7449338 + variationType: Dup + rcv: 134291 + vcv: 144887 +- chromNo: 5 + start: 170937459 + stop: 171008097 + variationType: Dup + rcv: 134298 + vcv: 144894 +- start: 2590844 + stop: 2605254 + variationType: Dup + rcv: 134221 + vcv: 144817 +- chromNo: 1 + start: 39324297 + stop: 39328794 + variationType: Del + rcv: 134225 + vcv: 144821 +- chromNo: 4 + start: 22149 + stop: 163401 + variationType: Dup + rcv: 134284 + vcv: 144880 +- chromNo: 5 + start: 104625850 + stop: 104789702 + variationType: Del + rcv: 134303 + vcv: 144899 +- chromNo: 5 + start: 56917608 + stop: 56950558 + variationType: Dup + rcv: 134307 + vcv: 144903 +- chromNo: 5 + start: 63276588 + stop: 63348841 + variationType: Dup + rcv: 134314 + vcv: 144910 +- chromNo: 1 + start: 13278775 + stop: 13417994 + variationType: Del + rcv: 134237 + vcv: 144833 +- chromNo: 1 + start: 51049645 + stop: 51066578 + variationType: Del + rcv: 134241 + vcv: 144837 +- chromNo: 1 + start: 35576002 + stop: 35821806 + variationType: Del + rcv: 134245 + vcv: 144841 +- chromNo: 5 + start: 162870369 + stop: 162933097 + variationType: Del + rcv: 134304 + vcv: 144900 +- chromNo: 5 + start: 56917608 + stop: 56950558 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 134308 + vcv: 144904 +- chromNo: 5 + start: 81572856 + stop: 81699864 + variationType: Dup + rcv: 134312 + vcv: 144908 +- chromNo: 2 + start: 469128 + stop: 503718 + variationType: Del + pathogenicity: LikelyBenign + rcv: 134261 + vcv: 144857 +- chromNo: 2 + start: 1822272 + stop: 1980753 + variationType: Del + rcv: 134265 + vcv: 144861 +- chromNo: 3 + start: 168321293 + stop: 168477137 + variationType: Dup + rcv: 134277 + vcv: 144873 +- chromNo: 3 + start: 190874457 + stop: 190943374 + variationType: Dup + rcv: 134281 + vcv: 144877 +- chromNo: 4 + start: 180783055 + stop: 180825790 + variationType: Dup + rcv: 134285 + vcv: 144881 +- chromNo: 4 + start: 180783055 + stop: 180875621 + variationType: Dup + rcv: 134293 + vcv: 144889 +- chromNo: 5 + start: 56917608 + stop: 56950558 + variationType: Del + pathogenicity: LikelyBenign + rcv: 134309 + vcv: 144905 +- chromNo: 5 + start: 170937459 + stop: 171025471 + variationType: Dup + rcv: 134316 + vcv: 144912 +- chromNo: 6 + start: 118866671 + stop: 119025730 + variationType: Del + rcv: 134328 + vcv: 144924 +- chromNo: 6 + start: 89571253 + stop: 89695823 + variationType: Del + rcv: 134336 + vcv: 144932 +- chromNo: 5 + start: 94487830 + stop: 94586500 + variationType: Del + pathogenicity: LikelyBenign + rcv: 134317 + vcv: 144913 +- chromNo: 5 + start: 170937459 + stop: 170983403 + variationType: Dup + rcv: 134318 + vcv: 144914 +- chromNo: 6 + start: 53472041 + stop: 53583125 + variationType: Del + rcv: 134323 + vcv: 144919 +- chromNo: 7 + start: 87572 + stop: 128199 + variationType: Dup + rcv: 134348 + vcv: 144944 +- chromNo: 6 + start: 153157388 + stop: 153487263 + variationType: Dup + rcv: 134325 + vcv: 144921 +- chromNo: 6 + start: 118866671 + stop: 119025730 + variationType: Dup + rcv: 134326 + vcv: 144922 +- chromNo: 6 + start: 125178203 + stop: 125790977 + variationType: Dup + rcv: 134330 + vcv: 144926 +- chromNo: 6 + start: 46494 + stop: 65558 + variationType: Dup + rcv: 134339 + vcv: 144935 +- chromNo: 8 + start: 30424069 + stop: 30520898 + variationType: Del + rcv: 134364 + vcv: 144960 +- chromNo: 8 + start: 138157660 + stop: 138283558 + variationType: Dup + rcv: 134368 + vcv: 144964 +- chromNo: 8 + start: 8065133 + stop: 8187842 + variationType: Del + rcv: 134372 + vcv: 144968 +- chromNo: 7 + start: 114199992 + stop: 114338391 + variationType: Dup + rcv: 134346 + vcv: 144942 +- chromNo: 7 + start: 87572 + stop: 128199 + variationType: Del + rcv: 134349 + vcv: 144945 +- chromNo: 7 + start: 2133991 + stop: 2349876 + variationType: Dup + rcv: 134351 + vcv: 144947 +- chromNo: 9 + start: 68479220 + stop: 68599432 + variationType: Del + rcv: 134380 + vcv: 144976 +- chromNo: 7 + start: 40247 + stop: 145465 + variationType: Dup + rcv: 134355 + vcv: 144951 +- chromNo: 7 + start: 15952011 + stop: 16021685 + variationType: Del + rcv: 134354 + vcv: 144950 +- chromNo: 9 + start: 107109062 + stop: 107280724 + variationType: Dup + rcv: 134384 + vcv: 144980 +- chromNo: 7 + start: 40247 + stop: 128199 + variationType: Dup + rcv: 134358 + vcv: 144954 +- chromNo: 8 + start: 25527395 + stop: 25616019 + variationType: Del + rcv: 134362 + vcv: 144958 +- chromNo: 8 + start: 8903382 + stop: 9014802 + variationType: Del + rcv: 134365 + vcv: 144961 +- chromNo: 9 + start: 84137675 + stop: 84270008 + variationType: Del + rcv: 134392 + vcv: 144989 +- chromNo: 8 + start: 141061567 + stop: 141106476 + variationType: Dup + rcv: 134366 + vcv: 144962 +- chromNo: 8 + start: 11927681 + stop: 12007047 + variationType: Del + rcv: 134369 + vcv: 144965 +- chromNo: 8 + start: 25259013 + stop: 25346912 + variationType: Del + rcv: 134367 + vcv: 144963 +- chromNo: 8 + start: 22212553 + stop: 22326165 + variationType: Del + rcv: 134373 + vcv: 144969 +- chromNo: 8 + start: 28191461 + stop: 28320731 + variationType: Del + rcv: 134374 + vcv: 144970 +- chromNo: 10 + start: 133546203 + stop: 133626429 + variationType: Del + rcv: 134400 + vcv: 144997 +- chromNo: 8 + start: 10249116 + stop: 10340720 + variationType: Dup + rcv: 134377 + vcv: 144973 +- chromNo: 8 + start: 80443049 + stop: 80460752 + variationType: Del + rcv: 134378 + vcv: 144974 +- chromNo: 8 + start: 11713632 + stop: 11868524 + variationType: Del + rcv: 134379 + vcv: 144975 +- chromNo: 9 + start: 17809523 + stop: 17962915 + variationType: Dup + rcv: 134387 + vcv: 144984 +- chromNo: 9 + start: 52489127 + stop: 52518930 + variationType: Dup + rcv: 134390 + vcv: 144987 +- chromNo: 9 + start: 100667725 + stop: 100696797 + variationType: Del + rcv: 134393 + vcv: 144990 +- chromNo: 9 + start: 17809523 + stop: 17892239 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 134394 + vcv: 144991 +- chromNo: 9 + start: 19446590 + stop: 19810710 + variationType: Del + rcv: 134397 + vcv: 144994 +- chromNo: 10 + start: 80656651 + stop: 80902908 + variationType: Del + rcv: 134402 + vcv: 144999 +- chromNo: 13 + start: 43856486 + stop: 44223814 + variationType: Dup + rcv: 134428 + vcv: 145025 +- chromNo: 13 + start: 72638897 + stop: 72665618 + variationType: Dup + rcv: 134432 + vcv: 145029 +- chromNo: 10 + start: 56322990 + stop: 56352364 + variationType: Del + rcv: 134409 + vcv: 145006 +- chromNo: 11 + start: 67177292 + stop: 67249002 + variationType: Del + rcv: 134414 + vcv: 145011 +- chromNo: 11 + start: 45667640 + stop: 45782413 + variationType: Del + rcv: 134417 + vcv: 145014 +- chromNo: 11 + start: 67183476 + stop: 67210339 + variationType: Del + rcv: 134418 + vcv: 145015 +- chromNo: 12 + start: 72826303 + stop: 73017334 + variationType: Del + rcv: 134422 + vcv: 145019 +- chromNo: 12 + start: 19327344 + stop: 19380812 + variationType: Dup + rcv: 134423 + vcv: 145020 +- chromNo: 13 + start: 43856486 + stop: 44223814 + variationType: Dup + rcv: 134430 + vcv: 145027 +- chromNo: 14 + start: 94218046 + stop: 94334589 + variationType: Del + rcv: 134434 + vcv: 145031 +- chromNo: 13 + start: 45821442 + stop: 45979670 + variationType: Del + rcv: 134429 + vcv: 145026 +- chromNo: 14 + start: 57656005 + stop: 57748274 + variationType: Dup + rcv: 134438 + vcv: 145035 +- chromNo: 14 + start: 75541862 + stop: 75589035 + variationType: Del + rcv: 134439 + vcv: 145036 +- chromNo: 14 + start: 75552647 + stop: 75589035 + variationType: Dup + rcv: 134442 + vcv: 145039 +- chromNo: 15 + start: 72769 + stop: 82412 + variationType: Dup + rcv: 134446 + vcv: 145043 +- chromNo: 15 + start: 72769 + stop: 82412 + variationType: Del + rcv: 134447 + vcv: 145044 +- chromNo: 17 + start: 14316 + stop: 69754 + variationType: Dup + rcv: 134480 + vcv: 145078 +- chromNo: 18 + start: 91171 + stop: 202952 + variationType: Dup + rcv: 134484 + vcv: 145082 +- chromNo: 15 + start: 69193 + stop: 82412 + variationType: Dup + rcv: 134449 + vcv: 145046 +- chromNo: 16 + start: 19504649 + stop: 19536309 + variationType: Del + rcv: 134462 + vcv: 145060 +- chromNo: 16 + start: 19504649 + stop: 19536309 + variationType: Del + rcv: 134463 + vcv: 145061 +- chromNo: 18 + start: 41448821 + stop: 41510949 + variationType: Del + rcv: 134496 + vcv: 145094 +- chromNo: 16 + start: 14368263 + stop: 14423007 + variationType: Dup + rcv: 134471 + vcv: 145069 +- chromNo: 16 + start: 25991972 + stop: 26061973 + variationType: Dup + rcv: 134465 + vcv: 145063 +- chromNo: 21 + start: 17267393 + stop: 17290275 + variationType: Dup + rcv: 134512 + vcv: 145110 +- chromNo: 18 + start: 74459 + stop: 113418 + variationType: Dup + rcv: 134486 + vcv: 145084 +- chromNo: 17 + start: 14316 + stop: 69754 + variationType: Del + rcv: 134481 + vcv: 145079 +- chromNo: 18 + start: 61112 + stop: 113418 + variationType: Del + rcv: 134494 + vcv: 145092 +- chromNo: 22 + start: 114218436 + stop: 114395542 + variationType: Dup + rcv: 134524 + vcv: 145122 +- chromNo: 17 + start: 14316 + stop: 69754 + variationType: Dup + rcv: 134479 + vcv: 145077 +- chromNo: 18 + start: 61112 + stop: 168688 + variationType: Dup + rcv: 134483 + vcv: 145081 +- chromNo: 18 + start: 61112 + stop: 113418 + variationType: Dup + rcv: 134493 + vcv: 145091 +- chromNo: 20 + start: 23727134 + stop: 23833530 + variationType: Del + rcv: 134506 + vcv: 145104 +- chromNo: 22 + start: 94416437 + stop: 94462590 + variationType: Del + rcv: 134536 + vcv: 145134 +- chromNo: 18 + start: 74459 + stop: 113418 + variationType: Del + rcv: 134487 + vcv: 145085 +- chromNo: 19 + start: 41067417 + stop: 41107347 + variationType: Dup + rcv: 134501 + vcv: 145099 +- chromNo: 22 + start: 77054444 + stop: 77143054 + variationType: Dup + pathogenicity: Pathogenic + rcv: 134544 + vcv: 145142 +- chromNo: 22 + start: 148644765 + stop: 148651627 + variationType: Del + rcv: 134552 + vcv: 145150 +- chromNo: 22 + start: 155236606 + stop: 155250178 + variationType: Dup + rcv: 134526 + vcv: 145124 +- chromNo: 22 + start: 94348475 + stop: 94388722 + variationType: Dup + rcv: 134556 + vcv: 145154 +- chromNo: 20 + start: 19412023 + stop: 19602127 + variationType: Dup + rcv: 134507 + vcv: 145105 +- chromNo: 22 + start: 155236606 + stop: 155255792 + variationType: Dup + rcv: 134530 + vcv: 145128 +- chromNo: 22 + start: 61931689 + stop: 62146866 + variationType: Dup + rcv: 134560 + vcv: 145158 +- chromNo: 22 + start: 154722370 + stop: 154776718 + variationType: Dup + rcv: 134534 + vcv: 145132 +- chromNo: 21 + start: 16054691 + stop: 17450189 + variationType: Dup + rcv: 134517 + vcv: 145115 +- chromNo: 22 + start: 143756944 + stop: 143843203 + variationType: Dup + rcv: 134542 + vcv: 145140 +- chromNo: 22 + start: 155014787 + stop: 155036311 + variationType: Del + rcv: 134525 + vcv: 145123 +- chromNo: 22 + start: 114218436 + stop: 114395542 + variationType: Dup + rcv: 134523 + vcv: 145121 +- chromNo: 22 + start: 115944547 + stop: 116047048 + variationType: Dup + rcv: 134546 + vcv: 145144 +- chromNo: 22 + start: 32575523 + stop: 32772668 + variationType: Del + pathogenicity: Pathogenic + rcv: 134527 + vcv: 145125 +- chromNo: 22 + start: 8067038 + stop: 8184213 + variationType: Dup + rcv: 134550 + vcv: 145148 +- chromNo: 23 + start: 13704922 + stop: 13820061 + variationType: Dup + rcv: 134580 + vcv: 145178 +- chromNo: 22 + start: 155236606 + stop: 155255792 + variationType: Del + rcv: 134531 + vcv: 145129 +- chromNo: 22 + start: 94348475 + stop: 94388722 + variationType: Dup + rcv: 134554 + vcv: 145152 +- chromNo: 22 + start: 94315189 + stop: 94375943 + variationType: Dup + rcv: 134537 + vcv: 145135 +- chromNo: 23 + start: 16099893 + stop: 16104120 + variationType: Dup + rcv: 134584 + vcv: 145182 +- chromNo: 22 + start: 6755142 + stop: 6818667 + variationType: Del + rcv: 134558 + vcv: 145156 +- chromNo: 22 + start: 42331117 + stop: 42441959 + variationType: Del + rcv: 134541 + vcv: 145139 +- chromNo: 23 + start: 13675923 + stop: 13848141 + variationType: Dup + rcv: 134588 + vcv: 145186 +- chromNo: 22 + start: 94315189 + stop: 94375943 + variationType: Dup + rcv: 134539 + vcv: 145137 +- chromNo: 22 + start: 125191679 + stop: 125301888 + variationType: Del + rcv: 134562 + vcv: 145160 +- chromNo: 22 + start: 77054444 + stop: 77143054 + variationType: Dup + pathogenicity: Uncertain + rcv: 134545 + vcv: 145143 +- chromNo: 23 + start: 13723022 + stop: 13745434 + variationType: Dup + rcv: 134592 + vcv: 145190 +- chromNo: 22 + start: 122607629 + stop: 122727785 + variationType: Dup + pathogenicity: Pathogenic + rcv: 134543 + vcv: 145141 +- chromNo: 22 + start: 6449644 + stop: 6454095 + variationType: Dup + rcv: 134549 + vcv: 145147 +- chromNo: 22 + start: 115944547 + stop: 116047048 + variationType: Dup + rcv: 134547 + vcv: 145145 +- chromNo: 22 + start: 148644765 + stop: 148651627 + variationType: Del + rcv: 134553 + vcv: 145151 +- chromNo: 22 + start: 116141925 + stop: 116195097 + variationType: Del + rcv: 134574 + vcv: 145172 +- chromNo: 22 + start: 6755142 + stop: 6818667 + variationType: Del + rcv: 134557 + vcv: 145155 +- chromNo: 22 + start: 94348475 + stop: 94388722 + variationType: Dup + rcv: 134555 + vcv: 145153 +- chromNo: 23 + start: 13675923 + stop: 13745434 + variationType: Dup + rcv: 134578 + vcv: 145176 +- chromNo: 22 + start: 61931689 + stop: 62146866 + variationType: Dup + rcv: 134559 + vcv: 145157 +- chromNo: 22 + start: 116409787 + stop: 116466743 + variationType: Del + rcv: 134561 + vcv: 145159 +- chromNo: 23 + start: 20297 + stop: 39498 + variationType: Dup + rcv: 134582 + vcv: 145180 +- chromNo: 10 + start: 89631979 + stop: 89656912 + variationType: Del + rcv: 134612 + vcv: 145210 +- chromNo: 22 + start: 125191679 + stop: 125301888 + variationType: Del + rcv: 134563 + vcv: 145161 +- chromNo: 22 + start: 909049 + stop: 1252522 + variationType: Dup + rcv: 134565 + vcv: 145163 +- chromNo: 23 + start: 16099893 + stop: 16393891 + variationType: Dup + rcv: 134586 + vcv: 145184 +- chromNo: 5 + start: 19479947 + stop: 19570373 + variationType: Dup + rcv: 134616 + vcv: 145214 +- chromNo: 23 + start: 17271029 + stop: 17284349 + variationType: Dup + rcv: 134590 + vcv: 145188 +- chromNo: 23 + start: 13622055 + stop: 13849453 + variationType: Dup + rcv: 134594 + vcv: 145192 +- chromNo: 22 + start: 125325276 + stop: 125360226 + variationType: Dup + rcv: 134575 + vcv: 145173 +- chromNo: 22 + start: 139608915 + stop: 140041481 + variationType: Dup + pathogenicity: Uncertain + rcv: 134577 + vcv: 145175 +- start: 142594227 + stop: 142642753 + variationType: Del + rcv: 134598 + vcv: 145196 +- chromNo: 8 + start: 108697403 + stop: 109009314 + variationType: Dup + rcv: 134628 + vcv: 145226 +- chromNo: 23 + start: 13675923 + stop: 13745434 + variationType: Dup + rcv: 134579 + vcv: 145177 +- chromNo: 23 + start: 20297 + stop: 39498 + variationType: Del + rcv: 134583 + vcv: 145181 +- chromNo: 23 + start: 16162322 + stop: 16188682 + variationType: Dup + rcv: 134585 + vcv: 145183 +- chromNo: 23 + start: 59304399 + stop: 59336998 + variationType: Del + rcv: 134606 + vcv: 145204 +- chromNo: 23 + start: 24073920 + stop: 24238124 + variationType: Dup + rcv: 134587 + vcv: 145185 +- chromNo: 23 + start: 859049 + stop: 1202522 + variationType: Dup + rcv: 134589 + vcv: 145187 +- start: 143134063 + stop: 143284670 + variationType: Dup + rcv: 134610 + vcv: 145208 +- chromNo: 22 + start: 125101992 + stop: 125287185 + variationType: Del + pathogenicity: LikelyBenign + rcv: 134640 + vcv: 145238 +- chromNo: 23 + start: 16077897 + stop: 16166538 + variationType: Dup + rcv: 134591 + vcv: 145189 +- chromNo: 23 + start: 13723022 + stop: 13745434 + variationType: Dup + rcv: 134593 + vcv: 145191 +- chromNo: 13 + start: 48786773 + stop: 48906286 + variationType: Del + rcv: 134614 + vcv: 145212 +- chromNo: 2 + start: 161435356 + stop: 161520563 + variationType: Del + rcv: 134644 + vcv: 145242 +- chromNo: 19 + start: 44350693 + stop: 44370415 + variationType: Del + rcv: 134597 + vcv: 145195 +- chromNo: 9 + start: 68443835 + stop: 68516519 + variationType: Del + rcv: 134618 + vcv: 145216 +- chromNo: 15 + start: 29725594 + stop: 29738388 + variationType: Del + rcv: 134648 + vcv: 145246 +- chromNo: 18 + start: 53328041 + stop: 53352600 + variationType: Dup + rcv: 134599 + vcv: 145197 +- chromNo: 23 + start: 731071 + stop: 769170 + variationType: Del + rcv: 134601 + vcv: 145199 +- chromNo: 2 + start: 82165558 + stop: 82248585 + variationType: Del + rcv: 134622 + vcv: 145220 +- chromNo: 6 + start: 72738675 + stop: 72766313 + variationType: Dup + rcv: 134603 + vcv: 145201 +- chromNo: 22 + start: 155201393 + stop: 155233992 + variationType: Del + rcv: 134605 + vcv: 145203 +- chromNo: 12 + start: 92173306 + stop: 92249821 + variationType: Del + rcv: 134626 + vcv: 145224 +- chromNo: 18 + start: 61112 + stop: 202952 + variationType: Dup + rcv: 134656 + vcv: 145254 +- chromNo: 22 + start: 91214315 + stop: 91246061 + variationType: Dup + rcv: 134609 + vcv: 145207 +- chromNo: 1 + start: 187080149 + stop: 187173729 + variationType: Del + rcv: 134660 + vcv: 145258 +- chromNo: 2 + start: 195381420 + stop: 195425875 + variationType: Dup + rcv: 134611 + vcv: 145209 +- chromNo: 2 + start: 26060682 + stop: 26279585 + variationType: Del + rcv: 134613 + vcv: 145211 +- chromNo: 6 + start: 13156515 + stop: 13302439 + variationType: Del + rcv: 134664 + vcv: 145262 +- chromNo: 12 + start: 55153988 + stop: 55457713 + variationType: Del + rcv: 134615 + vcv: 145213 +- start: 243684045 + stop: 243694734 + variationType: Dup + rcv: 134617 + vcv: 145215 +- chromNo: 14 + start: 93805530 + stop: 93889806 + variationType: Del + rcv: 134638 + vcv: 145236 +- chromNo: 12 + start: 67327801 + stop: 67348819 + variationType: Del + rcv: 134668 + vcv: 145266 +- chromNo: 7 + start: 16046 + stop: 56814 + variationType: Dup + rcv: 134619 + vcv: 145217 +- chromNo: 14 + start: 101935884 + stop: 101992296 + variationType: Del + rcv: 134621 + vcv: 145219 +- chromNo: 4 + start: 104332410 + stop: 104473254 + variationType: Del + rcv: 134642 + vcv: 145240 +- chromNo: 22 + start: 154556681 + stop: 154577793 + variationType: Dup + rcv: 134672 + vcv: 145270 +- chromNo: 2 + start: 164004587 + stop: 164335127 + variationType: Dup + rcv: 134623 + vcv: 145221 +- chromNo: 10 + start: 96808589 + stop: 97273356 + variationType: Dup + rcv: 134676 + vcv: 145274 +- chromNo: 20 + start: 24526599 + stop: 24622562 + variationType: Del + rcv: 134627 + vcv: 145225 +- chromNo: 7 + start: 14572311 + stop: 14615181 + variationType: Del + rcv: 134650 + vcv: 145248 +- chromNo: 7 + start: 140323438 + stop: 140399311 + variationType: Dup + rcv: 134680 + vcv: 145278 +- chromNo: 22 + start: 153420154 + stop: 153560505 + variationType: Dup + rcv: 134633 + vcv: 145231 +- start: 106060371 + stop: 106258498 + variationType: Del + rcv: 134635 + vcv: 145233 +- chromNo: 7 + start: 6043200 + stop: 6161430 + variationType: Del + rcv: 134688 + vcv: 145286 +- chromNo: 22 + start: 125101992 + stop: 125287185 + variationType: Del + rcv: 134639 + vcv: 145237 +- chromNo: 23 + start: 14022441 + stop: 14489087 + variationType: Dup + rcv: 134641 + vcv: 145239 +- chromNo: 13 + start: 28224092 + stop: 28256820 + variationType: Dup + rcv: 134662 + vcv: 145260 +- chromNo: 4 + start: 21288794 + stop: 21377276 + variationType: Dup + rcv: 134700 + vcv: 145298 +- chromNo: 1 + start: 14182010 + stop: 14278837 + variationType: Dup + rcv: 134704 + vcv: 145302 +- chromNo: 4 + start: 97051910 + stop: 97129673 + variationType: Del + rcv: 134670 + vcv: 145268 +- chromNo: 22 + start: 154672335 + stop: 154722370 + variationType: Dup + rcv: 134674 + vcv: 145272 +- chromNo: 15 + start: 66203 + stop: 82412 + variationType: Del + rcv: 134678 + vcv: 145276 +- chromNo: 22 + start: 127330420 + stop: 127572796 + variationType: Del + rcv: 134669 + vcv: 145267 +- chromNo: 3 + start: 190943374 + stop: 191012562 + variationType: Dup + rcv: 134663 + vcv: 145261 +- chromNo: 22 + start: 154556681 + stop: 154577793 + variationType: Dup + rcv: 134673 + vcv: 145271 +- chromNo: 15 + start: 66203 + stop: 82412 + variationType: Dup + rcv: 134677 + vcv: 145275 +- chromNo: 2 + start: 4094267 + stop: 4231359 + variationType: Del + rcv: 134690 + vcv: 145288 +- chromNo: 4 + start: 12820052 + stop: 13030604 + variationType: Dup + rcv: 134681 + vcv: 145279 +- chromNo: 4 + start: 180809804 + stop: 180875621 + variationType: Dup + rcv: 134694 + vcv: 145292 +- chromNo: 22 + start: 154672335 + stop: 154722370 + variationType: Dup + rcv: 134675 + vcv: 145273 +- chromNo: 3 + start: 168831927 + stop: 168977531 + variationType: Del + rcv: 134689 + vcv: 145287 +- chromNo: 11 + start: 99958415 + stop: 100005273 + variationType: Del + rcv: 134693 + vcv: 145291 +- chromNo: 7 + start: 4725168 + stop: 4749269 + variationType: Del + rcv: 134691 + vcv: 145289 +- start: 147962225 + stop: 149418924 + variationType: Dup + rcv: 134697 + vcv: 145295 +- chromNo: 18 + start: 127601 + stop: 138477 + variationType: Dup + rcv: 134695 + vcv: 145293 +- chromNo: 23 + start: 2211474 + stop: 2311399 + variationType: Dup + rcv: 134701 + vcv: 145299 +- chromNo: 19 + start: 41224904 + stop: 41312488 + variationType: Del + rcv: 134699 + vcv: 145297 +- chromNo: 8 + start: 11659296 + stop: 11927681 + variationType: Del + rcv: 134703 + vcv: 145301 +- chromNo: 2 + start: 4191029 + stop: 4324235 + variationType: Del + rcv: 134996 + vcv: 145670 +- chromNo: 7 + start: 4336985 + stop: 4414585 + variationType: Del + rcv: 135008 + vcv: 145682 +- chromNo: 1 + start: 51314371 + stop: 51467462 + variationType: Del + rcv: 135016 + vcv: 145690 +- chromNo: 4 + start: 21351834 + stop: 21377276 + variationType: Dup + rcv: 135020 + vcv: 145694 +- chromNo: 3 + start: 132755488 + stop: 133091760 + variationType: Del + rcv: 135028 + vcv: 145702 +- chromNo: 22 + start: 81202690 + stop: 81314758 + variationType: Dup + rcv: 135032 + vcv: 145706 +- chromNo: 7 + start: 73596927 + stop: 73635634 + variationType: Dup + rcv: 134998 + vcv: 145672 +- chromNo: 8 + start: 141033138 + stop: 141138727 + variationType: Dup + rcv: 135040 + vcv: 145714 +- chromNo: 2 + start: 1922459 + stop: 1962679 + variationType: Del + rcv: 135002 + vcv: 145676 +- chromNo: 3 + start: 13000279 + stop: 13071530 + variationType: Dup + rcv: 135006 + vcv: 145680 +- chromNo: 4 + start: 99211169 + stop: 99324697 + variationType: Dup + rcv: 135048 + vcv: 145722 +- chromNo: 22 + start: 86428535 + stop: 86473678 + variationType: Del + rcv: 134995 + vcv: 145669 +- chromNo: 22 + start: 155228918 + stop: 155240563 + variationType: Dup + rcv: 135010 + vcv: 145684 +- chromNo: 22 + start: 126152297 + stop: 126345993 + variationType: Del + rcv: 135052 + vcv: 145726 +- chromNo: 14 + start: 94150634 + stop: 94218046 + variationType: Del + rcv: 134999 + vcv: 145673 +- chromNo: 13 + start: 40733870 + stop: 40890943 + variationType: Del + rcv: 135014 + vcv: 145688 +- chromNo: 4 + start: 119028921 + stop: 119134844 + variationType: Dup + rcv: 135056 + vcv: 145730 +- chromNo: 13 + start: 48786773 + stop: 48891586 + variationType: Del + rcv: 135001 + vcv: 145675 +- chromNo: 7 + start: 84732613 + stop: 85047388 + variationType: Dup + rcv: 135005 + vcv: 145679 +- chromNo: 4 + start: 45935369 + stop: 46055437 + variationType: Dup + rcv: 135007 + vcv: 145681 +- chromNo: 8 + start: 26274518 + stop: 26405992 + variationType: Del + rcv: 135022 + vcv: 145696 +- start: 120569414 + stop: 120635392 + variationType: Dup + rcv: 135009 + vcv: 145683 +- chromNo: 23 + start: 59331924 + stop: 59343569 + variationType: Dup + rcv: 135011 + vcv: 145685 +- chromNo: 3 + start: 190079238 + stop: 190159449 + variationType: Dup + rcv: 135013 + vcv: 145687 +- start: 248291569 + stop: 248339940 + variationType: Del + rcv: 135072 + vcv: 145746 +- chromNo: 14 + start: 77722862 + stop: 77737043 + variationType: Dup + rcv: 135030 + vcv: 145704 +- chromNo: 3 + start: 116913694 + stop: 117097417 + variationType: Del + rcv: 135019 + vcv: 145693 +- chromNo: 22 + start: 126550521 + stop: 126707466 + variationType: Del + rcv: 135076 + vcv: 145750 +- chromNo: 22 + start: 81202690 + stop: 81314758 + variationType: Dup + rcv: 135034 + vcv: 145708 +- chromNo: 8 + start: 141073853 + stop: 141122055 + variationType: Dup + rcv: 135023 + vcv: 145697 +- chromNo: 18 + start: 20385317 + stop: 20484861 + variationType: Del + rcv: 135038 + vcv: 145712 +- chromNo: 22 + start: 2118389 + stop: 2289645 + variationType: Del + rcv: 135025 + vcv: 145699 +- chromNo: 22 + start: 84030980 + stop: 84132021 + variationType: Del + rcv: 135084 + vcv: 145758 +- chromNo: 8 + start: 11573531 + stop: 11713632 + variationType: Del + rcv: 135031 + vcv: 145705 +- chromNo: 11 + start: 60367402 + stop: 60454894 + variationType: Del + rcv: 135088 + vcv: 145762 +- chromNo: 15 + start: 72569 + stop: 82612 + variationType: Del + rcv: 135046 + vcv: 145720 +- chromNo: 22 + start: 353093 + stop: 387718 + variationType: Del + rcv: 135035 + vcv: 145709 +- chromNo: 7 + start: 40247 + stop: 56814 + variationType: Dup + rcv: 135050 + vcv: 145724 +- chromNo: 2 + start: 197863435 + stop: 197946533 + variationType: Dup + rcv: 135037 + vcv: 145711 +- chromNo: 4 + start: 180724243 + stop: 180751873 + variationType: Dup + rcv: 135039 + vcv: 145713 +- chromNo: 22 + start: 1793480 + stop: 1942205 + variationType: Dup + rcv: 135100 + vcv: 145774 +- chromNo: 2 + start: 197821738 + stop: 197895169 + variationType: Dup + rcv: 135058 + vcv: 145732 +- chromNo: 4 + start: 105779167 + stop: 105865777 + variationType: Del + rcv: 135045 + vcv: 145719 +- chromNo: 23 + start: 20944017 + stop: 21017616 + variationType: Dup + rcv: 135062 + vcv: 145736 +- chromNo: 4 + start: 180852761 + stop: 180875621 + variationType: Dup + rcv: 135049 + vcv: 145723 +- chromNo: 6 + start: 153823030 + stop: 153904470 + variationType: Dup + rcv: 135053 + vcv: 145727 +- start: 248291569 + stop: 248339940 + variationType: Dup + rcv: 135070 + vcv: 145744 +- chromNo: 22 + start: 95729423 + stop: 95845434 + variationType: Del + rcv: 135057 + vcv: 145731 +- chromNo: 15 + start: 78658225 + stop: 78745720 + variationType: Del + rcv: 135116 + vcv: 145790 +- chromNo: 23 + start: 20626494 + stop: 20700103 + variationType: Dup + rcv: 135061 + vcv: 145735 +- chromNo: 23 + start: 18274705 + stop: 18555560 + variationType: Dup + rcv: 135063 + vcv: 145737 +- start: 248158939 + stop: 248205955 + variationType: Del + rcv: 135120 + vcv: 145794 +- chromNo: 2 + start: 1797444 + stop: 2026210 + variationType: Del + rcv: 135067 + vcv: 145741 +- chromNo: 9 + start: 17809523 + stop: 18273895 + variationType: Dup + rcv: 135124 + vcv: 145798 +- start: 143428345 + stop: 143532171 + variationType: Dup + rcv: 135082 + vcv: 145756 +- chromNo: 10 + start: 55740538 + stop: 55821016 + variationType: Dup + rcv: 135071 + vcv: 145745 +- chromNo: 22 + start: 1223372 + stop: 1321581 + variationType: Dup + rcv: 135128 + vcv: 145802 +- chromNo: 10 + start: 55740538 + stop: 55821016 + variationType: Del + rcv: 135073 + vcv: 145747 +- chromNo: 6 + start: 52295077 + stop: 52580630 + variationType: Dup + rcv: 135075 + vcv: 145749 +- chromNo: 22 + start: 112828750 + stop: 113202825 + variationType: Del + rcv: 135090 + vcv: 145764 +- chromNo: 7 + start: 3989887 + stop: 4069370 + variationType: Del + rcv: 135079 + vcv: 145753 +- chromNo: 22 + start: 134293036 + stop: 134330110 + variationType: Dup + rcv: 135094 + vcv: 145768 +- chromNo: 22 + start: 33595181 + stop: 34078725 + variationType: Dup + rcv: 135081 + vcv: 145755 +- chromNo: 2 + start: 726645 + stop: 800324 + variationType: Dup + rcv: 135083 + vcv: 145757 +- chromNo: 14 + start: 32115751 + stop: 32148947 + variationType: Dup + rcv: 135098 + vcv: 145772 +- chromNo: 1 + start: 89137592 + stop: 89329992 + variationType: Del + rcv: 135085 + vcv: 145759 +- chromNo: 22 + start: 124807304 + stop: 124875430 + variationType: Del + rcv: 135087 + vcv: 145761 +- chromNo: 22 + start: 571286 + stop: 590637 + variationType: Dup + rcv: 135102 + vcv: 145776 +- chromNo: 14 + start: 98554119 + stop: 98685713 + variationType: Del + rcv: 135110 + vcv: 145784 +- chromNo: 22 + start: 144342100 + stop: 144478571 + variationType: Del + rcv: 135160 + vcv: 145834 +- chromNo: 1 + start: 241916309 + stop: 241919234 + variationType: Dup + rcv: 135118 + vcv: 145792 +- chromNo: 12 + start: 57793354 + stop: 57872497 + variationType: Del + rcv: 135097 + vcv: 145771 +- chromNo: 1 + start: 132068071 + stop: 132266527 + variationType: Dup + rcv: 135111 + vcv: 145785 +- chromNo: 23 + start: 1743480 + stop: 1892205 + variationType: Dup + rcv: 135101 + vcv: 145775 +- chromNo: 23 + start: 15991426 + stop: 16166538 + variationType: Dup + rcv: 135126 + vcv: 145800 +- chromNo: 8 + start: 141061567 + stop: 141138727 + variationType: Dup + rcv: 135115 + vcv: 145789 +- chromNo: 1 + start: 89500023 + stop: 89527568 + variationType: Dup + rcv: 135105 + vcv: 145779 +- chromNo: 5 + start: 162654091 + stop: 162748288 + variationType: Del + rcv: 135130 + vcv: 145804 +- chromNo: 22 + start: 2066618 + stop: 2166859 + variationType: Dup + rcv: 135134 + vcv: 145808 +- chromNo: 17 + start: 1664567 + stop: 1783663 + variationType: Dup + rcv: 135127 + vcv: 145801 +- start: 224079085 + stop: 224180364 + variationType: Dup + rcv: 135117 + vcv: 145791 +- chromNo: 8 + start: 15310271 + stop: 15378135 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135188 + vcv: 145862 +- chromNo: 6 + start: 111732639 + stop: 111784310 + variationType: Del + rcv: 135135 + vcv: 145809 +- chromNo: 11 + start: 16194185 + stop: 16273130 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135192 + vcv: 145866 +- chromNo: 22 + start: 94754981 + stop: 95056650 + variationType: Del + rcv: 135121 + vcv: 145795 +- chromNo: 9 + start: 68322619 + stop: 68443835 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135196 + vcv: 145870 +- chromNo: 23 + start: 20297 + stop: 100002 + variationType: Dup + rcv: 135125 + vcv: 145799 +- chromNo: 13 + start: 41847694 + stop: 42063031 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135143 + vcv: 145817 +- chromNo: 22 + start: 1015836 + stop: 1539509 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135150 + vcv: 145824 +- chromNo: 23 + start: 1173372 + stop: 1271581 + variationType: Dup + rcv: 135129 + vcv: 145803 +- chromNo: 23 + start: 965836 + stop: 1489509 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135151 + vcv: 145825 +- chromNo: 11 + start: 133139462 + stop: 133164842 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135170 + vcv: 145844 +- chromNo: 22 + start: 1810323 + stop: 2361399 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135220 + vcv: 145894 +- chromNo: 3 + start: 93456196 + stop: 93554942 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135167 + vcv: 145841 +- chromNo: 12 + start: 67307371 + stop: 67406473 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135174 + vcv: 145848 +- chromNo: 7 + start: 119202780 + stop: 119243767 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135171 + vcv: 145845 +- chromNo: 18 + start: 15742501 + stop: 15803290 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135178 + vcv: 145852 +- chromNo: 22 + start: 74420870 + stop: 74463757 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135228 + vcv: 145902 +- chromNo: 22 + start: 72227953 + stop: 72313441 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135236 + vcv: 145910 +- chromNo: 22 + start: 1321581 + stop: 1347283 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135153 + vcv: 145827 +- chromNo: 12 + start: 67215674 + stop: 67399883 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135194 + vcv: 145868 +- chromNo: 22 + start: 37238833 + stop: 37519713 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135244 + vcv: 145918 +- chromNo: 22 + start: 144342100 + stop: 144478571 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135161 + vcv: 145835 +- start: 143753740 + stop: 143984287 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135191 + vcv: 145865 +- chromNo: 8 + start: 133475547 + stop: 133530586 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135165 + vcv: 145839 +- chromNo: 8 + start: 5352284 + stop: 5426040 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135252 + vcv: 145926 +- chromNo: 20 + start: 29212076 + stop: 29358348 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135256 + vcv: 145930 +- chromNo: 21 + start: 24202020 + stop: 24273134 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135173 + vcv: 145847 +- chromNo: 2 + start: 75770362 + stop: 75791565 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135206 + vcv: 145880 +- chromNo: 9 + start: 96407740 + stop: 96520226 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135181 + vcv: 145855 +- chromNo: 6 + start: 8676000 + stop: 8807326 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135214 + vcv: 145888 +- start: 50128385 + stop: 50193443 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135218 + vcv: 145892 +- chromNo: 4 + start: 12820052 + stop: 13227701 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135272 + vcv: 145946 +- chromNo: 21 + start: 18894835 + stop: 19010449 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135215 + vcv: 145889 +- chromNo: 5 + start: 157944961 + stop: 157968714 + variationType: Dup + pathogenicity: LikelyBenign + rcv: 135219 + vcv: 145893 +- chromNo: 7 + start: 50995163 + stop: 51705426 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135280 + vcv: 145954 +- chromNo: 8 + start: 6312800 + stop: 6355675 + variationType: Del + pathogenicity: LikelyBenign + rcv: 135223 + vcv: 145897 diff --git a/src/strucvars/txt_to_bin/clinvar/snapshots/varfish_server_worker__strucvars__txt_to_bin__clinvar__test__run_convert_jsonl_to_protobuf@Grch37.snap b/src/strucvars/txt_to_bin/clinvar/snapshots/varfish_server_worker__strucvars__txt_to_bin__clinvar__test__run_convert_jsonl_to_protobuf@Grch37.snap deleted file mode 100644 index 1de492b9..00000000 --- a/src/strucvars/txt_to_bin/clinvar/snapshots/varfish_server_worker__strucvars__txt_to_bin__clinvar__test__run_convert_jsonl_to_protobuf@Grch37.snap +++ /dev/null @@ -1,271 +0,0 @@ ---- -source: src/strucvars/txt_to_bin/clinvar/mod.rs -expression: records ---- -- chromNo: 6 - start: 101528 - stop: 227833 - variationType: Dup - rcv: 50292 -- start: 147228867 - stop: 147248577 - variationType: Dup - pathogenicity: Uncertain - rcv: 50299 -- chromNo: 6 - start: 70356011 - stop: 70537428 - variationType: Dup - pathogenicity: Uncertain - rcv: 50317 -- chromNo: 6 - start: 10649696 - stop: 11329787 - variationType: Dup - pathogenicity: Uncertain - rcv: 50319 -- chromNo: 20 - start: 35734654 - stop: 35879759 - variationType: Dup - pathogenicity: Uncertain - rcv: 50337 -- start: 149041013 - stop: 149699420 - variationType: Dup - rcv: 50339 -- chromNo: 1 - start: 242930600 - stop: 243007359 - variationType: Dup - rcv: 50458 -- chromNo: 5 - start: 259528 - stop: 307998 - variationType: Dup - rcv: 50474 -- chromNo: 5 - start: 259528 - stop: 293493 - variationType: Dup - rcv: 50518 -- chromNo: 2 - start: 2342852 - stop: 2796629 - variationType: Dup - pathogenicity: Uncertain - rcv: 50588 -- chromNo: 10 - start: 196966 - stop: 244236 - variationType: Del - pathogenicity: Uncertain - rcv: 50265 -- start: 148867551 - stop: 149699420 - variationType: Del - rcv: 50266 -- chromNo: 1 - start: 242930600 - stop: 243059659 - variationType: Del - rcv: 50281 -- chromNo: 22 - start: 155231256 - stop: 155251871 - variationType: Del - rcv: 50305 -- chromNo: 22 - start: 155231256 - stop: 155251871 - variationType: Del - rcv: 50306 -- start: 149041013 - stop: 149699420 - variationType: Del - rcv: 50340 -- chromNo: 4 - start: 629455 - stop: 820475 - variationType: Del - rcv: 50363 -- chromNo: 11 - start: 61091958 - stop: 61921447 - variationType: Del - pathogenicity: Uncertain - rcv: 50369 -- chromNo: 1 - start: 242930600 - stop: 243007359 - variationType: Del - rcv: 50463 -- chromNo: 5 - start: 259528 - stop: 307998 - variationType: Del - rcv: 50482 -- chromNo: 15 - start: 89817659 - stop: 89861760 - variationType: Del - pathogenicity: Pathogenic - rcv: 3614 -- chromNo: 7 - start: 53536328 - stop: 53598019 - variationType: Del - pathogenicity: Pathogenic - rcv: 4182 -- chromNo: 7 - start: 53537321 - stop: 53574220 - variationType: Del - pathogenicity: Pathogenic - rcv: 4183 -- chromNo: 16 - start: 3543558 - stop: 3543559 - variationType: Microsatellite - pathogenicity: Pathogenic - rcv: 4692 -- chromNo: 4 - start: 77436046 - stop: 77444215 - variationType: Del - pathogenicity: Pathogenic - rcv: 6747 -- chromNo: 8 - start: 139570503 - stop: 139571539 - variationType: Del - pathogenicity: Pathogenic - rcv: 7011 -- chromNo: 21 - start: 40742514 - stop: 40762546 - variationType: Dup - pathogenicity: Uncertain - rcv: 536272 -- chromNo: 22 - start: 69080668 - stop: 69177002 - variationType: Dup - pathogenicity: Pathogenic - rcv: 539041 -- chromNo: 16 - start: 56769999 - stop: 56774226 - variationType: Dup - pathogenicity: Uncertain - rcv: 554988 -- chromNo: 22 - start: 68890034 - stop: 69177002 - variationType: Dup - pathogenicity: Pathogenic - rcv: 633513 -- chromNo: 3 - start: 77116840 - stop: 77134716 - variationType: Dup - pathogenicity: Uncertain - rcv: 638336 -- chromNo: 1 - start: 233194517 - stop: 233198703 - variationType: Dup - pathogenicity: Uncertain - rcv: 638545 -- chromNo: 22 - start: 103031893 - stop: 103045546 - variationType: Dup - pathogenicity: Pathogenic - rcv: 640484 -- chromNo: 1 - start: 32358735 - stop: 32358736 - variationType: Dup - pathogenicity: Pathogenic - rcv: 6031 -- chromNo: 11 - start: 115120779 - stop: 115120779 - variationType: Del - pathogenicity: Pathogenic - rcv: 8451 -- chromNo: 11 - start: 114836472 - stop: 114836472 - variationType: Del - pathogenicity: Pathogenic - rcv: 8460 -- start: 228345537 - stop: 228345537 - variationType: Del - pathogenicity: LikelyPathogenic - rcv: 256421 -- chromNo: 13 - start: 21775989 - stop: 21776009 - variationType: Del - pathogenicity: LikelyPathogenic - rcv: 256440 -- chromNo: 20 - start: 47545768 - stop: 47545769 - variationType: Dup - pathogenicity: LikelyPathogenic - rcv: 256480 -- chromNo: 17 - start: 43479513 - stop: 43479513 - variationType: Del - pathogenicity: LikelyPathogenic - rcv: 416351 -- chromNo: 1 - start: 179454322 - stop: 179454323 - variationType: Dup - pathogenicity: Uncertain - rcv: 256437 -- chromNo: 16 - start: 12899881 - stop: 12899882 - variationType: Dup - pathogenicity: Pathogenic - rcv: 5360 -- chromNo: 2 - start: 33100045 - stop: 33100046 - pathogenicity: LikelyPathogenic - rcv: 1849900 -- chromNo: 13 - start: 99641905 - stop: 99641906 - variationType: Dup - pathogenicity: Uncertain - rcv: 2265366 -- chromNo: 22 - start: 154156796 - stop: 154227925 - pathogenicity: LikelyPathogenic - rcv: 852264 -- chromNo: 14 - start: 38632006 - stop: 38632007 - variationType: Dup - pathogenicity: Pathogenic - rcv: 622432 -- chromNo: 7 - start: 144900557 - stop: 144900557 - variationType: Del - pathogenicity: Pathogenic - rcv: 622481 -- start: 1718780 - stop: 1718782 - variationType: Del - pathogenicity: Pathogenic - rcv: 623933 diff --git a/src/strucvars/txt_to_bin/clinvar/snapshots/varfish_server_worker__strucvars__txt_to_bin__clinvar__test__run_convert_jsonl_to_protobuf@Grch38.snap b/src/strucvars/txt_to_bin/clinvar/snapshots/varfish_server_worker__strucvars__txt_to_bin__clinvar__test__run_convert_jsonl_to_protobuf@Grch38.snap deleted file mode 100644 index cf58b30a..00000000 --- a/src/strucvars/txt_to_bin/clinvar/snapshots/varfish_server_worker__strucvars__txt_to_bin__clinvar__test__run_convert_jsonl_to_protobuf@Grch38.snap +++ /dev/null @@ -1,254 +0,0 @@ ---- -source: src/strucvars/txt_to_bin/clinvar/mod.rs -expression: records ---- -- chromNo: 6 - start: 101528 - stop: 227833 - variationType: Dup - rcv: 50292 -- start: 147756734 - stop: 147776466 - variationType: Dup - pathogenicity: Uncertain - rcv: 50299 -- chromNo: 6 - start: 70891025 - stop: 71072442 - variationType: Dup - pathogenicity: Uncertain - rcv: 50317 -- chromNo: 6 - start: 10610069 - stop: 11290160 - variationType: Dup - pathogenicity: Uncertain - rcv: 50319 -- chromNo: 20 - start: 7743711 - stop: 7865746 - variationType: Dup - pathogenicity: Uncertain - rcv: 50337 -- chromNo: 1 - start: 241988449 - stop: 242065208 - variationType: Dup - rcv: 50458 -- chromNo: 5 - start: 259528 - stop: 307998 - variationType: Dup - rcv: 50474 -- chromNo: 5 - start: 259528 - stop: 293493 - variationType: Dup - rcv: 50518 -- chromNo: 2 - start: 2301168 - stop: 2754945 - variationType: Dup - pathogenicity: Uncertain - rcv: 50588 -- chromNo: 10 - start: 196966 - stop: 244236 - variationType: Del - pathogenicity: Uncertain - rcv: 50265 -- chromNo: 6 - start: 61006478 - stop: 62410831 - variationType: Del - rcv: 50266 -- chromNo: 1 - start: 241988449 - stop: 242126245 - variationType: Del - rcv: 50281 -- chromNo: 22 - start: 156001591 - stop: 156022206 - variationType: Del - rcv: 50305 -- chromNo: 22 - start: 156001591 - stop: 156022206 - variationType: Del - rcv: 50306 -- chromNo: 4 - start: 629340 - stop: 820360 - variationType: Del - rcv: 50363 -- chromNo: 11 - start: 60698177 - stop: 61527666 - variationType: Del - pathogenicity: Uncertain - rcv: 50369 -- chromNo: 1 - start: 241988449 - stop: 242065208 - variationType: Del - rcv: 50463 -- chromNo: 5 - start: 259528 - stop: 307998 - variationType: Del - rcv: 50482 -- chromNo: 15 - start: 89751251 - stop: 89795352 - variationType: Del - pathogenicity: Pathogenic - rcv: 3614 -- chromNo: 7 - start: 52623768 - stop: 52685459 - variationType: Del - pathogenicity: Pathogenic - rcv: 4182 -- chromNo: 7 - start: 52624761 - stop: 52661660 - variationType: Del - pathogenicity: Pathogenic - rcv: 4183 -- chromNo: 8 - start: 32973498 - stop: 33001604 - variationType: Del - pathogenicity: Pathogenic - rcv: 4682 -- chromNo: 16 - start: 3640264 - stop: 3640265 - variationType: Microsatellite - pathogenicity: Pathogenic - rcv: 4692 -- chromNo: 4 - start: 78140222 - stop: 78148391 - variationType: Del - pathogenicity: Pathogenic - rcv: 6747 -- chromNo: 8 - start: 136676051 - stop: 136677087 - variationType: Del - pathogenicity: Pathogenic - rcv: 7011 -- chromNo: 16 - start: 58692638 - stop: 58696865 - variationType: Dup - pathogenicity: Uncertain - rcv: 554988 -- chromNo: 3 - start: 76195687 - stop: 76213563 - variationType: Dup - pathogenicity: Uncertain - rcv: 638336 -- chromNo: 1 - start: 232329807 - stop: 232333993 - variationType: Dup - pathogenicity: Uncertain - rcv: 638545 -- chromNo: 1 - start: 32133666 - stop: 32133667 - variationType: Dup - pathogenicity: Pathogenic - rcv: 6031 -- chromNo: 11 - start: 114682974 - stop: 114682974 - variationType: Del - pathogenicity: Pathogenic - rcv: 8451 -- chromNo: 11 - start: 114398667 - stop: 114398667 - variationType: Del - pathogenicity: Pathogenic - rcv: 8460 -- start: 228157836 - stop: 228157836 - variationType: Del - pathogenicity: LikelyPathogenic - rcv: 256421 -- chromNo: 13 - start: 21307830 - stop: 21307850 - variationType: Del - pathogenicity: LikelyPathogenic - rcv: 256440 -- chromNo: 20 - start: 46125854 - stop: 46125855 - variationType: Dup - pathogenicity: LikelyPathogenic - rcv: 256480 -- chromNo: 17 - start: 45899548 - stop: 45899548 - variationType: Del - pathogenicity: LikelyPathogenic - rcv: 416351 -- chromNo: 1 - start: 178589595 - stop: 178589596 - variationType: Dup - pathogenicity: Uncertain - rcv: 256437 -- chromNo: 16 - start: 12996564 - stop: 12996565 - variationType: Dup - pathogenicity: Pathogenic - rcv: 5360 -- chromNo: 13 - start: 99175568 - stop: 99175569 - variationType: Dup - pathogenicity: Uncertain - rcv: 2265366 -- chromNo: 14 - start: 38339805 - stop: 38339806 - variationType: Dup - pathogenicity: Pathogenic - rcv: 622432 -- chromNo: 7 - start: 143818387 - stop: 143818387 - variationType: Del - pathogenicity: Pathogenic - rcv: 622481 -- start: 1787341 - stop: 1787343 - variationType: Del - pathogenicity: Pathogenic - rcv: 623933 -- chromNo: 7 - start: 86652314 - stop: 86662912 - variationType: Dup - pathogenicity: Pathogenic - rcv: 498744 -- chromNo: 9 - start: 129162520 - stop: 129249183 - variationType: Bnd - pathogenicity: Pathogenic - rcv: 2468904 -- chromNo: 6 - start: 102178523 - stop: 102225311 - variationType: Bnd - pathogenicity: Pathogenic - rcv: 2468904 diff --git a/tests/db/to-bin/varfish-db-downloader/vardbs/clinvar/bootstrap.sh b/tests/db/to-bin/varfish-db-downloader/vardbs/clinvar/bootstrap.sh new file mode 100755 index 00000000..437a8493 --- /dev/null +++ b/tests/db/to-bin/varfish-db-downloader/vardbs/clinvar/bootstrap.sh @@ -0,0 +1,29 @@ +#!/usr/bin/bash + +RELEASE_DATE=${RELEASE_DATE-20240612} +CLINVAR_THIS_VERSION=${CLINVAR_THIS_VERSION-0.17.0} +VERSION=${RELEASE_DATE}+${CLINVAR_THIS_VERSION} + +URL=https://github.com/varfish-org/clinvar-data-jsonl/releases/download/clinvar-weekly-${RELEASE_DATE}/clinvar-data-extract-vars-${VERSION}.tar.gz + +RELEASE=grch37 + +# # Download subset from clinvar-data-jsonl for subsetting. + +set -x +set -euo pipefail + +SCRIPT_DIR=$( cd -- "$( dirname -- "${BASH_SOURCE[0]}" )" &> /dev/null && pwd ) + +export TMPDIR=$(mktemp -d) +#trap "rm -rf $TMPDIR" EXIT + +DST=$TMPDIR/clinvar-data-extract-vars-${VERSION}.tar.gz +wget -O $DST $URL +tar -C $TMPDIR -xf $DST + +zcat $TMPDIR/clinvar-data-extract-vars-${VERSION}/clinvar-variants-${RELEASE}-strucvars.jsonl.gz \ +| head -n 500 \ +| tee $SCRIPT_DIR/clinvar-svs.jsonl \ +| gzip -c \ +> $SCRIPT_DIR/clinvar-svs.jsonl.gz diff --git a/tests/db/to-bin/varfish-db-downloader/vardbs/clinvar/clinvar-svs.jsonl b/tests/db/to-bin/varfish-db-downloader/vardbs/clinvar/clinvar-svs.jsonl index 57acaa48..3e2ea025 100644 --- a/tests/db/to-bin/varfish-db-downloader/vardbs/clinvar/clinvar-svs.jsonl +++ b/tests/db/to-bin/varfish-db-downloader/vardbs/clinvar/clinvar-svs.jsonl @@ -1,105 +1,500 @@ -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000000454", "version": 5, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2009-06-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a 27-week-old male fetus with complex cortical dysplasia with other brain malformations-7 (CDCBM7; 610031), Jaglin et al. (2009) identified a heterozygous 514T-C transition in the TUBB2B gene, resulting in a ser172-to-pro (S172P) substitution. Postmortem examination showed bilateral and asymmetric frontotemporal polymicrogyria with heterotopic neuronal cells in the cerebellum and agenesis of the corpus callosum. In vitro functional expression studies showed that the S172P-mutant protein was unable to form a functional alpha/beta-tubulin heterodimer with little evidence of incorporation into well-defined microtubules."}, "citations": [{"ids": [{"source": "PubMed", "value": "19465910"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Fallet-Bianco et al. (2014) identified a heterozygous S172P mutation in a fetus (individual 12) with microcephaly, polymicrogyria, focal neuronoglial overmigration, heterotopic neurons, complete agenesis of the corpus callosum, and mild cerebellar hypoplasia. Functional studies of the variant and studies of patient cells were not performed."}, "citations": [{"ids": [{"source": "PubMed", "value": "25059107"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000000426", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_178012.5(TUBB2B):c.514T>C (p.Ser172Pro)"}}], "canonical_spdi": "NC_000006.12:3225574:A:G", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_178012.5:c.514T>C"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_016715.1:g.7160T>C"}, {"type": "HGVS, genomic, top level", "value": "NC_000006.12:g.3225575A>G", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000006.11:g.3225809A>G", "integer_value": 37}, {"type": "HGVS, protein", "value": "Q9BVA1:p.Ser172Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_821080.1:p.Ser172Pro"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_178012.5:c.514T>C"}]}, {"type": "ProteinChange1LetterCode", "value": "S172P"}, {"type": "ProteinChange3LetterCode", "value": "SER172PRO"}], "cytogenic_locations": ["6p25.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "start": 3225575, "stop": 3225575, "display_start": 3225575, "display_stop": 3225575, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 3225575, "reference_allele_vcf": "A", "alternate_allele_vcf": "G"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "start": 3225809, "stop": 3225809, "display_start": 3225809, "display_stop": 3225809, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 3225809, "reference_allele_vcf": "A", "alternate_allele_vcf": "G"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "tubulin beta 2B class IIb"}}], "symbols": [{"value": {"type": "Preferred", "value": "TUBB2B"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "start": 3224277, "stop": 3227653, "display_start": 3224277, "display_stop": 3227653, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "start": 3224494, "stop": 3227967, "display_start": 3224494, "display_stop": 3227967, "strand": "-", "variant_length": 3474, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "347733"}, {"db": "OMIM", "id": "612850", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:30829"}]}], "xrefs": [{"db": "UniProtKB", "id": "Q9BVA1#VAR_063389"}, {"db": "OMIM", "id": "612850.0001", "type": "Allelic variant"}, {"db": "dbSNP", "id": "137853194", "type": "rs"}], "id": 15465}], "names": [{"value": {"type": "Preferred", "value": "NM_178012.5(TUBB2B):c.514T>C (p.Ser172Pro)"}}], "xrefs": [{"db": "ClinGen", "id": "CA250424"}], "id": 426}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Complex cortical dysplasia with other brain malformations 7"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0012399"}]}, {"value": {"type": "Alternate", "value": "Polymicrogyria, asymmetric"}, "xrefs": [{"db": "Genetic Alliance", "id": "Polymicrogyria%2C+asymmetric/9129"}]}], "symbols": [{"value": {"type": "Alternate", "value": "CDCBM7"}, "xrefs": [{"db": "OMIM", "id": "610031", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "PMGYSA"}, "xrefs": [{"db": "OMIM", "id": "610031", "type": "MIM"}]}], "attributes": [{"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "10783"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301522"}, {"source": "BookShelf", "value": "NBK1348"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "27010057"}, {"source": "BookShelf", "value": "NBK350554"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0012399"}, {"db": "MedGen", "id": "C3552236"}, {"db": "Orphanet", "id": "300573"}, {"db": "OMIM", "id": "610031", "type": "MIM"}]}], "id": 118}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 57957}, "record_status": "current", "title": "NM_178012.5(TUBB2B):c.514T>C (p.Ser172Pro) AND Complex cortical dysplasia with other brain malformations 7", "clinvar_assertions": [{"id": 20603, "submission_id": {"local_key": "612850.0001_CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7", "submitter": "OMIM", "title": "TUBB2B, SER172PRO _CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7", "submitter_date": "2016-06-21"}, "clinvar_accession": {"acc": "SCV000020603", "version": 4, "type": "SCV", "date_updated": "2016-06-23", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2009-06-01"}], "external_ids": [{"db": "OMIM", "id": "612850.0001", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a 27-week-old male fetus with complex cortical dysplasia with other brain malformations-7 (CDCBM7; 610031), Jaglin et al. (2009) identified a heterozygous 514T-C transition in the TUBB2B gene, resulting in a ser172-to-pro (S172P) substitution. Postmortem examination showed bilateral and asymmetric frontotemporal polymicrogyria with heterotopic neuronal cells in the cerebellum and agenesis of the corpus callosum. In vitro functional expression studies showed that the S172P-mutant protein was unable to form a functional alpha/beta-tubulin heterodimer with little evidence of incorporation into well-defined microtubules."}, "citations": [{"ids": [{"source": "PubMed", "value": "19465910"}]}], "xrefs": [{"db": "OMIM", "id": "610031", "type": "MIM"}]}, {"attribute": {"type": "Description", "value": "Fallet-Bianco et al. (2014) identified a heterozygous S172P mutation in a fetus (individual 12) with microcephaly, polymicrogyria, focal neuronoglial overmigration, heterotopic neurons, complete agenesis of the corpus callosum, and mild cerebellar hypoplasia. Functional studies of the variant and studies of patient cells were not performed."}, "citations": [{"ids": [{"source": "PubMed", "value": "25059107"}]}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "TUBB2B, SER172PRO"}}], "attributes": [{"type": "NonHGVS", "value": "SER172PRO"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "TUBB2B"}}]}], "xrefs": [{"db": "OMIM", "id": "612850.0001", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000000455", "version": 5, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "pathogenic", "date_last_evaluated": "2021-10-02"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a 2-year-old boy with complex cortical dysplasia with other brain malformations-7 (CDCBM7; 610031) manifest as polymicrogyria, Jaglin et al. (2009) identified a heterozygous 683T-C transition in the TUBB2B gene, resulting in a leu228-to-pro (L228P) substitution. The patient had microcephaly, severe neuromotor impairment, no visual contact, and infantile seizures. Brain imaging showed polymicrogyria predominantly in the frontal and temporal lobes, including the hippocampus. Other abnormal features included a dysmorphic caudate and striatum, cerebellar vermian dysplasia with hypoplasia, agenesis of the corpus callosum, and mild hypoplasia of the brainstem. In vitro functional expression studies showed that the L228P-mutant protein had impaired ability to form a functional alpha/beta-tubulin heterodimer. However, the mutant protein appeared to be incorporated into microtubules."}, "citations": [{"ids": [{"source": "PubMed", "value": "19465910"}], "type": "general"}]}]}, {"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000000427", "version": 2, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_178012.5(TUBB2B):c.683T>C (p.Leu228Pro)"}}], "canonical_spdi": "NC_000006.12:3225405:A:G", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_178012.5:c.683T>C"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_016715.1:g.7329T>C"}, {"type": "HGVS, genomic, top level", "value": "NC_000006.12:g.3225406A>G", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000006.11:g.3225640A>G", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_178012.4:c.683T>C"}, {"type": "HGVS, protein", "value": "Q9BVA1:p.Leu228Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_821080.1:p.Leu228Pro"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_178012.5:c.683T>C"}]}, {"type": "ProteinChange1LetterCode", "value": "L228P"}, {"type": "ProteinChange3LetterCode", "value": "LEU228PRO"}], "cytogenic_locations": ["6p25.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "start": 3225406, "stop": 3225406, "display_start": 3225406, "display_stop": 3225406, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 3225406, "reference_allele_vcf": "A", "alternate_allele_vcf": "G"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "start": 3225640, "stop": 3225640, "display_start": 3225640, "display_stop": 3225640, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 3225640, "reference_allele_vcf": "A", "alternate_allele_vcf": "G"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "tubulin beta 2B class IIb"}}], "symbols": [{"value": {"type": "Preferred", "value": "TUBB2B"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "start": 3224277, "stop": 3227653, "display_start": 3224277, "display_stop": 3227653, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "start": 3224494, "stop": 3227967, "display_start": 3224494, "display_stop": 3227967, "strand": "-", "variant_length": 3474, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "347733"}, {"db": "OMIM", "id": "612850", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:30829"}]}], "xrefs": [{"db": "UniProtKB", "id": "Q9BVA1#VAR_063392"}, {"db": "OMIM", "id": "612850.0002", "type": "Allelic variant"}, {"db": "dbSNP", "id": "137853195", "type": "rs"}], "id": 15466}], "names": [{"value": {"type": "Preferred", "value": "NM_178012.5(TUBB2B):c.683T>C (p.Leu228Pro)"}}], "xrefs": [{"db": "ClinGen", "id": "CA250425"}], "id": 427}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Complex cortical dysplasia with other brain malformations 7"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0012399"}]}, {"value": {"type": "Alternate", "value": "Polymicrogyria, asymmetric"}, "xrefs": [{"db": "Genetic Alliance", "id": "Polymicrogyria%2C+asymmetric/9129"}]}], "symbols": [{"value": {"type": "Alternate", "value": "CDCBM7"}, "xrefs": [{"db": "OMIM", "id": "610031", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "PMGYSA"}, "xrefs": [{"db": "OMIM", "id": "610031", "type": "MIM"}]}], "attributes": [{"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "10783"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301522"}, {"source": "BookShelf", "value": "NBK1348"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "27010057"}, {"source": "BookShelf", "value": "NBK350554"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0012399"}, {"db": "MedGen", "id": "C3552236"}, {"db": "Orphanet", "id": "300573"}, {"db": "OMIM", "id": "610031", "type": "MIM"}]}], "id": 118}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 57958}, "record_status": "current", "title": "NM_178012.5(TUBB2B):c.683T>C (p.Leu228Pro) AND Complex cortical dysplasia with other brain malformations 7", "clinvar_assertions": [{"id": 20604, "submission_id": {"local_key": "612850.0002_CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7", "submitter": "OMIM", "title": "TUBB2B, LEU228PRO _CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7", "submitter_date": "2016-06-21"}, "clinvar_accession": {"acc": "SCV000020604", "version": 3, "type": "SCV", "date_updated": "2016-06-23", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2009-06-01"}], "external_ids": [{"db": "OMIM", "id": "612850.0002", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a 2-year-old boy with complex cortical dysplasia with other brain malformations-7 (CDCBM7; 610031) manifest as polymicrogyria, Jaglin et al. (2009) identified a heterozygous 683T-C transition in the TUBB2B gene, resulting in a leu228-to-pro (L228P) substitution. The patient had microcephaly, severe neuromotor impairment, no visual contact, and infantile seizures. Brain imaging showed polymicrogyria predominantly in the frontal and temporal lobes, including the hippocampus. Other abnormal features included a dysmorphic caudate and striatum, cerebellar vermian dysplasia with hypoplasia, agenesis of the corpus callosum, and mild hypoplasia of the brainstem. In vitro functional expression studies showed that the L228P-mutant protein had impaired ability to form a functional alpha/beta-tubulin heterodimer. However, the mutant protein appeared to be incorporated into microtubules."}, "citations": [{"ids": [{"source": "PubMed", "value": "19465910"}]}], "xrefs": [{"db": "OMIM", "id": "610031", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "TUBB2B, LEU228PRO"}}], "attributes": [{"type": "NonHGVS", "value": "LEU228PRO"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "TUBB2B"}}]}], "xrefs": [{"db": "OMIM", "id": "612850.0002", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7"}}]}]}}, {"id": 3950553, "submission_id": {"local_key": "6-3225640-A-G", "submitter": "3billion", "submitted_assembly": "GRCh37", "submitter_date": "2021-11-05"}, "clinvar_accession": {"acc": "SCV002012213", "version": 1, "type": "SCV", "date_updated": "2021-11-11", "date_created": "2021-11-11", "org_id": "507830", "org_type": "primary", "org_category": "other"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["pathogenic"], "citations": [{"ids": [{"source": "PubMed", "value": "19465910"}]}], "comments": [{"text": "Same nucleotide change resulting in same amino acid change has been previously reported as de novoo in a similarly affected individual (ClinVar ID: VCV000000427.1, PMID: 19465910, PS1, PS2). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.919, 3Cnet: 0.997, PP3). Patient's phenotype is considered compatible with Cortical Dysplasia, Complex, with Other Brain Malformations 7 (3billion dataset, PP4). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline."}], "date_last_evaluated": "2021-10-02"}], "external_ids": [{"db": "3billion", "id": "NIPA038"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "ACMG Guidelines, 2015"}, "citations": [{"ids": [{"source": "PubMed", "value": "25741868"}]}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1, "proband": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "SingleHeterozygote", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0002194"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0000609"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0007206"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0100842"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0001290"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0000750"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0001328"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0011231"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0001360"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0000574"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0001250"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0001249"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0001274"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0002539"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_178012.4:c.683T>C"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "TUBB2B"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "610031", "type": "MIM"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000000456", "version": 4, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2009-06-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a 37-year-old man with complex cortical dysplasia with other brain malformations-7 (CDCBM7; 610031) manifest as polymicrogyria, Jaglin et al. (2009) identified a heterozygous 793T-C transition in the TUBB2B gene, resulting in a phe265-to-leu (F265L) substitution. He had microcephaly, severe mental retardation, and seizures, but no neuromotor impairment. Brain imaging showed asymmetric polymicrogyria predominantly in the left frontal, parietal, and temporal lobes, including the hippocampus. Other abnormal features were a dysmorphic caudate and striatum, severe cerebellar atrophy, partial posterior agenesis of the corpus callosum, and hypoplasia of the pons. In vitro functional expression assays showed that the F265L-mutant protein had markedly impaired ability to form alpha/beta-tubulin heterodimers with little evidence of incorporation into well-defined microtubules. Jaglin et al. (2009) noted that severe defect observed in vitro and the relatively mild phenotype of this patient, suggested that there is no simple correlation between in vitro and clinical phenotype."}, "citations": [{"ids": [{"source": "PubMed", "value": "19465910"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000000428", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_178012.5(TUBB2B):c.793T>C (p.Phe265Leu)"}}], "canonical_spdi": "NC_000006.12:3225295:A:G", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_178012.5:c.793T>C"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_016715.1:g.7439T>C"}, {"type": "HGVS, genomic, top level", "value": "NC_000006.12:g.3225296A>G", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000006.11:g.3225530A>G", "integer_value": 37}, {"type": "HGVS, protein", "value": "Q9BVA1:p.Phe265Leu"}, {"type": "HGVS, protein, RefSeq", "value": "NP_821080.1:p.Phe265Leu"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_178012.5:c.793T>C"}]}, {"type": "ProteinChange1LetterCode", "value": "F265L"}, {"type": "ProteinChange3LetterCode", "value": "PHE265LEU"}], "cytogenic_locations": ["6p25.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "start": 3225296, "stop": 3225296, "display_start": 3225296, "display_stop": 3225296, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 3225296, "reference_allele_vcf": "A", "alternate_allele_vcf": "G"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "start": 3225530, "stop": 3225530, "display_start": 3225530, "display_stop": 3225530, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 3225530, "reference_allele_vcf": "A", "alternate_allele_vcf": "G"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "tubulin beta 2B class IIb"}}], "symbols": [{"value": {"type": "Preferred", "value": "TUBB2B"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "start": 3224277, "stop": 3227653, "display_start": 3224277, "display_stop": 3227653, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "start": 3224494, "stop": 3227967, "display_start": 3224494, "display_stop": 3227967, "strand": "-", "variant_length": 3474, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "347733"}, {"db": "OMIM", "id": "612850", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:30829"}]}], "xrefs": [{"db": "UniProtKB", "id": "Q9BVA1#VAR_063393"}, {"db": "OMIM", "id": "612850.0003", "type": "Allelic variant"}, {"db": "dbSNP", "id": "137853196", "type": "rs"}], "id": 15467}], "names": [{"value": {"type": "Preferred", "value": "NM_178012.5(TUBB2B):c.793T>C (p.Phe265Leu)"}}], "xrefs": [{"db": "ClinGen", "id": "CA250426"}], "id": 428}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Complex cortical dysplasia with other brain malformations 7"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0012399"}]}, {"value": {"type": "Alternate", "value": "Polymicrogyria, asymmetric"}, "xrefs": [{"db": "Genetic Alliance", "id": "Polymicrogyria%2C+asymmetric/9129"}]}], "symbols": [{"value": {"type": "Alternate", "value": "CDCBM7"}, "xrefs": [{"db": "OMIM", "id": "610031", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "PMGYSA"}, "xrefs": [{"db": "OMIM", "id": "610031", "type": "MIM"}]}], "attributes": [{"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "10783"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301522"}, {"source": "BookShelf", "value": "NBK1348"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "27010057"}, {"source": "BookShelf", "value": "NBK350554"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0012399"}, {"db": "MedGen", "id": "C3552236"}, {"db": "Orphanet", "id": "300573"}, {"db": "OMIM", "id": "610031", "type": "MIM"}]}], "id": 118}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 57959}, "record_status": "current", "title": "NM_178012.5(TUBB2B):c.793T>C (p.Phe265Leu) AND Complex cortical dysplasia with other brain malformations 7", "clinvar_assertions": [{"id": 20605, "submission_id": {"local_key": "612850.0003_CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7", "submitter": "OMIM", "title": "TUBB2B, PHE265LEU _CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7", "submitter_date": "2016-06-21"}, "clinvar_accession": {"acc": "SCV000020605", "version": 2, "type": "SCV", "date_updated": "2014-11-01", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2009-06-01"}], "external_ids": [{"db": "OMIM", "id": "612850.0003", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a 37-year-old man with complex cortical dysplasia with other brain malformations-7 (CDCBM7; 610031) manifest as polymicrogyria, Jaglin et al. (2009) identified a heterozygous 793T-C transition in the TUBB2B gene, resulting in a phe265-to-leu (F265L) substitution. He had microcephaly, severe mental retardation, and seizures, but no neuromotor impairment. Brain imaging showed asymmetric polymicrogyria predominantly in the left frontal, parietal, and temporal lobes, including the hippocampus. Other abnormal features were a dysmorphic caudate and striatum, severe cerebellar atrophy, partial posterior agenesis of the corpus callosum, and hypoplasia of the pons. In vitro functional expression assays showed that the F265L-mutant protein had markedly impaired ability to form alpha/beta-tubulin heterodimers with little evidence of incorporation into well-defined microtubules. Jaglin et al. (2009) noted that severe defect observed in vitro and the relatively mild phenotype of this patient, suggested that there is no simple correlation between in vitro and clinical phenotype."}, "citations": [{"ids": [{"source": "PubMed", "value": "19465910"}]}], "xrefs": [{"db": "OMIM", "id": "610031", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "TUBB2B, PHE265LEU"}}], "attributes": [{"type": "NonHGVS", "value": "PHE265LEU"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "TUBB2B"}}]}], "xrefs": [{"db": "OMIM", "id": "612850.0003", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000006389", "version": 5, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2009-09-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 2 unrelated infants, both of Jewish Caucasus descent, with fatal infantile lactic acidosis resulting from complex I deficiency (MC1DN9; 618232), Spiegel et al. (2009) identified a homozygous 344G-A transition in the NDUFS6 gene, resulting in a cys115-to-tyr (C115Y) substitution in a highly conserved residue. Each of the affected patients had an older sibling with a similar fatal disorder. Complex I activity was about 50% or less in muscle biopsies. Two carriers of the mutation were identified among 48 unrelated individuals of Jewish Caucasus descent, suggesting a founder effect. The Jewish population of the Caucasus region of central Asia is believed to have originated from southern Iran and is a genetically isolated community."}, "citations": [{"ids": [{"source": "PubMed", "value": "19259137"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000006018", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr)"}}], "canonical_spdi": "NC_000005.10:1815884:G:A", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_004553.6:c.344G>A"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_013354.1:g.19504G>A"}, {"type": "HGVS, genomic, top level", "value": "NC_000005.10:g.1815885G>A", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000005.9:g.1815999G>A", "integer_value": 37}, {"type": "HGVS, protein, RefSeq", "value": "NP_004544.1:p.Cys115Tyr"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_004553.6:c.344G>A"}]}, {"type": "ProteinChange1LetterCode", "value": "C115Y"}, {"type": "ProteinChange3LetterCode", "value": "CYS115TYR"}], "cytogenic_locations": ["5p15.33"], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "start": 1815885, "stop": 1815885, "display_start": 1815885, "display_stop": 1815885, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 1815885, "reference_allele_vcf": "G", "alternate_allele_vcf": "A"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "start": 1815999, "stop": 1815999, "display_start": 1815999, "display_stop": 1815999, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 1815999, "reference_allele_vcf": "G", "alternate_allele_vcf": "A"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "NADH:ubiquinone oxidoreductase subunit S6"}}], "symbols": [{"value": {"type": "Preferred", "value": "NDUFS6"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "start": 1801407, "stop": 1816048, "display_start": 1801407, "display_stop": 1816048, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "start": 1801495, "stop": 1816164, "display_start": 1801495, "display_stop": 1816164, "strand": "+", "variant_length": 14670, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "4726"}, {"db": "OMIM", "id": "603848", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:7713"}]}], "xrefs": [{"db": "OMIM", "id": "603848.0003", "type": "Allelic variant"}, {"db": "dbSNP", "id": "267606913", "type": "rs"}], "id": 21057}], "names": [{"value": {"type": "Preferred", "value": "NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr)"}}], "xrefs": [{"db": "ClinGen", "id": "CA117913"}], "id": 6018}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Mitochondrial complex 1 deficiency, nuclear type 9"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0032615"}]}, {"value": {"type": "Alternate", "value": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9"}, "xrefs": [{"db": "OMIM", "id": "618232", "type": "MIM"}, {"db": "OMIM", "id": "603848.0001", "type": "Allelic variant"}, {"db": "OMIM", "id": "603848.0002", "type": "Allelic variant"}, {"db": "OMIM", "id": "603848.0003", "type": "Allelic variant"}]}], "symbols": [{"value": {"type": "Alternate", "value": "MC1DN9"}, "xrefs": [{"db": "OMIM", "id": "618232", "type": "MIM"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0032615"}, {"db": "MedGen", "id": "C4748767"}, {"db": "OMIM", "id": "618232", "type": "MIM"}]}], "id": 45320}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 63892}, "record_status": "current", "title": "NM_004553.6(NDUFS6):c.344G>A (p.Cys115Tyr) AND Mitochondrial complex 1 deficiency, nuclear type 9", "clinvar_assertions": [{"id": 26571, "submission_id": {"local_key": "603848.0003_MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9", "submitter": "OMIM", "title": "NDUFS6, CYS115TYR_MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9", "submitter_date": "2018-12-13"}, "clinvar_accession": {"acc": "SCV000026571", "version": 4, "type": "SCV", "date_updated": "2018-12-16", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2009-09-01"}], "external_ids": [{"db": "OMIM", "id": "603848.0003", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 2 unrelated infants, both of Jewish Caucasus descent, with fatal infantile lactic acidosis resulting from complex I deficiency (MC1DN9; 618232), Spiegel et al. (2009) identified a homozygous 344G-A transition in the NDUFS6 gene, resulting in a cys115-to-tyr (C115Y) substitution in a highly conserved residue. Each of the affected patients had an older sibling with a similar fatal disorder. Complex I activity was about 50% or less in muscle biopsies. Two carriers of the mutation were identified among 48 unrelated individuals of Jewish Caucasus descent, suggesting a founder effect. The Jewish population of the Caucasus region of central Asia is believed to have originated from southern Iran and is a genetically isolated community."}, "citations": [{"ids": [{"source": "PubMed", "value": "19259137"}]}], "xrefs": [{"db": "OMIM", "id": "618232", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "NDUFS6, CYS115TYR"}}], "attributes": [{"type": "NonHGVS", "value": "CYS115TYR"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "NDUFS6"}}]}], "xrefs": [{"db": "OMIM", "id": "603848.0003", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000006391", "version": 5, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "likely pathogenic", "date_last_evaluated": "2019-01-23"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "unknown", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["curation"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}, {"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "For discussion of the arg199-to-trp (R199W) mutation in the NDUFS3 gene that was found in compound heterozygous state in a patient with complex I deficiency (MC1DN8; 618230) manifesting as Leigh syndrome (see 256000) by Benit et al. (2004), see 603846.0001."}, "citations": [{"ids": [{"source": "PubMed", "value": "14729820"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Haack et al. (2012) identified a homozygous 532C-T transition in the NDUFS3 gene, resulting in an R199W substitution, in a patient with MC1DN8. The mutation (rs104894270) was identified by exome sequencing. The patient had encephalopathy, myopathy, developmental delay, and lactic acidosis; Leigh syndrome was not noted. Complex I activity was 28% in muscle and 36% in fibroblasts, and there was a decrease in fully assembled complex I."}, "citations": [{"ids": [{"source": "PubMed", "value": "22499348"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000006020", "version": 2, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp)"}}], "canonical_spdi": "NC_000011.10:47582435:C:T", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_004551.3:c.595C>T"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_011946.1:g.8427C>T"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_011946.2:g.8427C>T"}, {"type": "HGVS, genomic, top level", "value": "NC_000011.10:g.47582436C>T", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000011.9:g.47603988C>T", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_004551.2:c.595C>T"}, {"type": "HGVS, protein, RefSeq", "value": "NP_004542.1:p.Arg199Trp"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_004551.3:c.595C>T"}]}, {"type": "ProteinChange1LetterCode", "value": "R199W"}, {"type": "ProteinChange3LetterCode", "value": "ARG199TRP"}], "cytogenic_locations": ["11p11.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "11", "accession": "NC_000011.10", "start": 47582436, "stop": 47582436, "display_start": 47582436, "display_stop": 47582436, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 47582436, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}, {"assembly": "GRCh37", "chr": "11", "accession": "NC_000011.9", "start": 47603988, "stop": 47603988, "display_start": 47603988, "display_stop": 47603988, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 47603988, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "NADH:ubiquinone oxidoreductase core subunit S3"}}], "symbols": [{"value": {"type": "Preferred", "value": "NDUFS3"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "11", "accession": "NC_000011.10", "start": 47579074, "stop": 47584562, "display_start": 47579074, "display_stop": 47584562, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "11", "accession": "NW_019805496.1", "start": 6900, "stop": 12388, "display_start": 6900, "display_stop": 12388, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "11", "accession": "NC_000011.9", "start": 47600561, "stop": 47606114, "display_start": 47600561, "display_stop": 47606114, "strand": "+", "variant_length": 5554, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "4722"}, {"db": "OMIM", "id": "603846", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:7710"}]}], "xrefs": [{"db": "OMIM", "id": "603846.0002", "type": "Allelic variant"}, {"db": "dbSNP", "id": "104894270", "type": "rs"}], "id": 21059}], "names": [{"value": {"type": "Preferred", "value": "NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp)"}}], "xrefs": [{"db": "ClinGen", "id": "CA117917"}], "id": 6020}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Mitochondrial complex 1 deficiency, nuclear type 8"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0032613"}]}, {"value": {"type": "Alternate", "value": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8"}, "xrefs": [{"db": "OMIM", "id": "618230", "type": "MIM"}, {"db": "OMIM", "id": "603846.0001", "type": "Allelic variant"}, {"db": "OMIM", "id": "603846.0002", "type": "Allelic variant"}, {"db": "OMIM", "id": "603846.0003", "type": "Allelic variant"}, {"db": "OMIM", "id": "603846.0004", "type": "Allelic variant"}]}], "symbols": [{"value": {"type": "Alternate", "value": "MC1DN8"}, "xrefs": [{"db": "OMIM", "id": "618230", "type": "MIM"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0032613"}, {"db": "MedGen", "id": "C4748766"}, {"db": "OMIM", "id": "618230", "type": "MIM"}]}], "id": 45319}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 63894}, "record_status": "current", "title": "NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp) AND Mitochondrial complex 1 deficiency, nuclear type 8", "clinvar_assertions": [{"id": 26573, "submission_id": {"local_key": "603846.0002_MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8", "submitter": "OMIM", "title": "NDUFS3, ARG199TRP (rs104894270)_MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8", "submitter_date": "2018-12-13"}, "clinvar_accession": {"acc": "SCV000026573", "version": 3, "type": "SCV", "date_updated": "2018-12-16", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2012-04-01"}], "external_ids": [{"db": "OMIM", "id": "603846.0002", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "For discussion of the arg199-to-trp (R199W) mutation in the NDUFS3 gene that was found in compound heterozygous state in a patient with complex I deficiency (MC1DN8; 618230) manifesting as Leigh syndrome (see 256000) by Benit et al. (2004), see 603846.0001."}, "citations": [{"ids": [{"source": "PubMed", "value": "14729820"}]}], "xrefs": [{"db": "OMIM", "id": "618230", "type": "MIM"}, {"db": "OMIM", "id": "256000", "type": "MIM"}]}, {"attribute": {"type": "Description", "value": "Haack et al. (2012) identified a homozygous 532C-T transition in the NDUFS3 gene, resulting in an R199W substitution, in a patient with MC1DN8. The mutation (rs104894270) was identified by exome sequencing. The patient had encephalopathy, myopathy, developmental delay, and lactic acidosis; Leigh syndrome was not noted. Complex I activity was 28% in muscle and 36% in fibroblasts, and there was a decrease in fully assembled complex I."}, "citations": [{"ids": [{"source": "PubMed", "value": "22499348"}]}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "NDUFS3, ARG199TRP (rs104894270)"}}], "attributes": [{"type": "NonHGVS", "value": "ARG199TRP (rs104894270)"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "NDUFS3"}}]}], "xrefs": [{"db": "OMIM", "id": "603846.0002", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8"}}]}]}}, {"id": 1823216, "submission_id": {"local_key": "NM_004551.2:c.595C>T|OMIM:618230", "submitter": "SIB Swiss Institute of Bioinformatics", "submitted_assembly": "not applicable", "submitter_date": "2019-03-27"}, "clinvar_accession": {"acc": "SCV000930056", "version": 1, "type": "SCV", "date_updated": "2019-08-04", "date_created": "2019-08-04", "org_id": "506146", "org_type": "primary", "org_category": "other"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["likely pathogenic"], "citations": [{"ids": [{"source": "PubMed", "value": "14729820"}]}, {"ids": [{"source": "PubMed", "value": "22499348"}]}, {"ids": [{"source": "PubMed", "value": "30140060"}]}], "comments": [{"text": "This variant is interpreted as a Likely pathogenic for Mitochondrial complex I deficiency, nuclear type 8, autosomal recessive. The following ACMG Tag(s) were applied: PM2 : Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 : Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PP1 : Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:14729820). PS3 : Well-established functional studies show a deleterious effect (PMID:22499348)."}], "date_last_evaluated": "2019-01-23"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "ACMG Guidelines, 2015"}, "citations": [{"ids": [{"source": "PubMed", "value": "25741868"}]}]}], "observed_in": [{"sample": {"origin": "unknown", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["curation"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_004551.2:c.595C>T"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "NDUFS3"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "618230", "type": "MIM"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000006538", "version": 3, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2001-09-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 2 affected sibs and 1 fetus in a consanguineous family with mitochondrial complex III deficiency nuclear type 1 (MC3DN1; 124000) characterized by neonatal tubulopathy, encephalopathy, and liver failure, de Lonlay et al. (2001) identified a homozygous 830G-A transition in the BCS1L gene, resulting in a ser277-to-asp (S277N) substitution."}, "citations": [{"ids": [{"source": "PubMed", "value": "11528392"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000006163", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn)"}}], "canonical_spdi": "NC_000002.12:218662619:G:A", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001371452.1:c.329G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371453.1:c.329G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371454.1:c.329G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371455.1:c.329G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371456.1:c.329G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001374086.1:c.329G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001318836.2:c.470G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371451.1:c.470G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001079866.2:c.830G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001257342.2:c.830G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001257343.2:c.830G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001257344.2:c.830G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001320717.2:c.830G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371443.1:c.830G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371444.1:c.830G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371446.1:c.830G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371447.1:c.830G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371448.1:c.830G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371449.1:c.830G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371450.1:c.830G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001374085.1:c.830G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_004328.5:c.830G>A"}, {"type": "HGVS, genomic, LRG", "value": "LRG_539:g.7965G>A"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_033099.1:g.1921C>T"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_008018.1:g.7965G>A"}, {"type": "HGVS, genomic, top level", "value": "NC_000002.12:g.218662620G>A", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.11:g.219527343G>A", "integer_value": 37}, {"type": "HGVS, non-coding", "value": "NR_163955.1:n.1837G>A"}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "Q9Y276:p.Ser277Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358381.1:p.Ser110Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358382.1:p.Ser110Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358383.1:p.Ser110Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358384.1:p.Ser110Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358385.1:p.Ser110Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001361015.1:p.Ser110Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001305765.1:p.Ser157Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358380.1:p.Ser157Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001073335.1:p.Ser277Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001244271.1:p.Ser277Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001244272.1:p.Ser277Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001244273.1:p.Ser277Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001307646.1:p.Ser277Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358372.1:p.Ser277Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358373.1:p.Ser277Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358375.1:p.Ser277Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358376.1:p.Ser277Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358377.1:p.Ser277Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358378.1:p.Ser277Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358379.1:p.Ser277Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001361014.1:p.Ser277Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_004319.1:p.Ser277Asn"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001079866.2:c.830G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001257342.2:c.830G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001257343.2:c.830G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001257344.2:c.830G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001318836.2:c.470G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001320717.2:c.830G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371443.1:c.830G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371444.1:c.830G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371446.1:c.830G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371447.1:c.830G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371448.1:c.830G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371449.1:c.830G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371450.1:c.830G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371451.1:c.470G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371452.1:c.329G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371453.1:c.329G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371454.1:c.329G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371455.1:c.329G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371456.1:c.329G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001374085.1:c.830G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001374086.1:c.329G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_004328.5:c.830G>A"}]}, {"type": "MolecularConsequence", "value": "non-coding transcript variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001619"}, {"db": "RefSeq", "id": "NR_163955.1:n.1837G>A"}]}, {"type": "ProteinChange1LetterCode", "value": "S110N"}, {"type": "ProteinChange1LetterCode", "value": "S157N"}, {"type": "ProteinChange1LetterCode", "value": "S277N"}, {"type": "ProteinChange3LetterCode", "value": "SER277ASN"}], "cytogenic_locations": ["2q35"], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 218662620, "stop": 218662620, "display_start": 218662620, "display_stop": 218662620, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 218662620, "reference_allele_vcf": "G", "alternate_allele_vcf": "A"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 219527343, "stop": 219527343, "display_start": 219527343, "display_stop": 219527343, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 219527343, "reference_allele_vcf": "G", "alternate_allele_vcf": "A"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone"}}], "symbols": [{"value": {"type": "Preferred", "value": "BCS1L"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 218658743, "stop": 218663443, "display_start": 218658743, "display_stop": 218663443, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 219524378, "stop": 219528165, "display_start": 219524378, "display_stop": 219528165, "strand": "+", "variant_length": 3788, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "617"}, {"db": "OMIM", "id": "603647", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:1020"}]}], "xrefs": [{"db": "UniProtKB", "id": "Q9Y276#VAR_018162"}, {"db": "OMIM", "id": "603647.0001", "type": "Allelic variant"}, {"db": "dbSNP", "id": "121908571", "type": "rs"}], "id": 21202}], "names": [{"value": {"type": "Preferred", "value": "NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn)"}}], "xrefs": [{"db": "ClinGen", "id": "CA117984"}], "id": 6163}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Mitochondrial complex III deficiency nuclear type 1"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0007415"}]}, {"value": {"type": "Alternate", "value": "Complex 3 mitochondrial respiratory chain deficiency"}}], "symbols": [{"value": {"type": "Alternate", "value": "MC3DN1"}, "xrefs": [{"db": "OMIM", "id": "124000", "type": "MIM"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0007415"}, {"db": "MedGen", "id": "C3541471"}, {"db": "Orphanet", "id": "254902"}, {"db": "OMIM", "id": "124000", "type": "MIM"}]}], "id": 180}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 64041}, "record_status": "current", "title": "NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn) AND Mitochondrial complex III deficiency nuclear type 1", "clinvar_assertions": [{"id": 26721, "submission_id": {"local_key": "603647.0001_MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1", "submitter": "OMIM", "title": "BCS1L, SER277ASN_MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1", "submitter_date": "2013-04-08"}, "clinvar_accession": {"acc": "SCV000026721", "version": 2, "type": "SCV", "date_updated": "2013-04-10", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2001-09-01"}], "external_ids": [{"db": "OMIM", "id": "603647.0001", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 2 affected sibs and 1 fetus in a consanguineous family with mitochondrial complex III deficiency nuclear type 1 (MC3DN1; 124000) characterized by neonatal tubulopathy, encephalopathy, and liver failure, de Lonlay et al. (2001) identified a homozygous 830G-A transition in the BCS1L gene, resulting in a ser277-to-asp (S277N) substitution."}, "citations": [{"ids": [{"source": "PubMed", "value": "11528392"}]}], "xrefs": [{"db": "OMIM", "id": "124000", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "BCS1L, SER277ASN"}}], "attributes": [{"type": "NonHGVS", "value": "SER277ASN"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "BCS1L"}}]}], "xrefs": [{"db": "OMIM", "id": "603647.0001", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000006540", "version": 5, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2001-09-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a boy of Turkish origin with complex III deficiency (MC3DN1; 124000) born to nonconsanguineous parents, de Lonlay et al. (2001) identified compound heterozygosity for 2 mutations in the BCS1L gene: a 464C-G transversion in exon 3 of the BCS1L gene, resulting in an arg155-to-pro (R155P) substitution, and a 1057G-A transition in exon 7, resulting in a val353-to-met (V353M; 603647.0004) substitution."}, "citations": [{"ids": [{"source": "PubMed", "value": "11528392"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000006165", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro)"}}], "canonical_spdi": "NC_000002.12:218661761:G:C", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001371452.1:c.-38G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371453.1:c.-38G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371454.1:c.-38G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371455.1:c.-38G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371456.1:c.-38G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001374086.1:c.-38G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001318836.2:c.104G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371451.1:c.104G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001079866.2:c.464G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001257342.2:c.464G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001257343.2:c.464G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001257344.2:c.464G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001320717.2:c.464G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371443.1:c.464G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371444.1:c.464G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371446.1:c.464G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371447.1:c.464G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371448.1:c.464G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371449.1:c.464G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371450.1:c.464G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001374085.1:c.464G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_004328.5:c.464G>C"}, {"type": "HGVS, genomic, LRG", "value": "LRG_539:g.7107G>C"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_033099.1:g.2779C>G"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_008018.1:g.7107G>C"}, {"type": "HGVS, genomic, top level", "value": "NC_000002.12:g.218661762G>C", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.11:g.219526485G>C", "integer_value": 37}, {"type": "HGVS, non-coding", "value": "NR_163955.1:n.1476G>C"}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "Q9Y276:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001073335.1:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001244271.1:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001244272.1:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001244273.1:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001307646.1:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358372.1:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358373.1:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358375.1:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358376.1:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358377.1:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358378.1:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358379.1:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001361014.1:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_004319.1:p.Arg155Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001305765.1:p.Arg35Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358380.1:p.Arg35Pro"}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001371452.1:c.-38G>C"}]}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001371453.1:c.-38G>C"}]}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001371454.1:c.-38G>C"}]}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001371455.1:c.-38G>C"}]}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001371456.1:c.-38G>C"}]}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001374086.1:c.-38G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001079866.2:c.464G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001257342.2:c.464G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001257343.2:c.464G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001257344.2:c.464G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001318836.2:c.104G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001320717.2:c.464G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371443.1:c.464G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371444.1:c.464G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371446.1:c.464G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371447.1:c.464G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371448.1:c.464G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371449.1:c.464G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371450.1:c.464G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371451.1:c.104G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001374085.1:c.464G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_004328.5:c.464G>C"}]}, {"type": "MolecularConsequence", "value": "non-coding transcript variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001619"}, {"db": "RefSeq", "id": "NR_163955.1:n.1476G>C"}]}, {"type": "ProteinChange1LetterCode", "value": "R155P"}, {"type": "ProteinChange1LetterCode", "value": "R35P"}, {"type": "ProteinChange3LetterCode", "value": "ARG155PRO"}], "cytogenic_locations": ["2q35"], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 218661762, "stop": 218661762, "display_start": 218661762, "display_stop": 218661762, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 218661762, "reference_allele_vcf": "G", "alternate_allele_vcf": "C"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 219526485, "stop": 219526485, "display_start": 219526485, "display_stop": 219526485, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 219526485, "reference_allele_vcf": "G", "alternate_allele_vcf": "C"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone"}}], "symbols": [{"value": {"type": "Preferred", "value": "BCS1L"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 218658743, "stop": 218663443, "display_start": 218658743, "display_stop": 218663443, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 219524378, "stop": 219528165, "display_start": 219524378, "display_stop": 219528165, "strand": "+", "variant_length": 3788, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "617"}, {"db": "OMIM", "id": "603647", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:1020"}]}], "xrefs": [{"db": "UniProtKB", "id": "Q9Y276#VAR_018161"}, {"db": "OMIM", "id": "603647.0003", "type": "Allelic variant"}, {"db": "dbSNP", "id": "121908573", "type": "rs"}], "id": 21204}], "names": [{"value": {"type": "Preferred", "value": "NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro)"}}], "xrefs": [{"db": "ClinGen", "id": "CA117994"}], "id": 6165}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Mitochondrial complex III deficiency nuclear type 1"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0007415"}]}, {"value": {"type": "Alternate", "value": "Complex 3 mitochondrial respiratory chain deficiency"}}], "symbols": [{"value": {"type": "Alternate", "value": "MC3DN1"}, "xrefs": [{"db": "OMIM", "id": "124000", "type": "MIM"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0007415"}, {"db": "MedGen", "id": "C3541471"}, {"db": "Orphanet", "id": "254902"}, {"db": "OMIM", "id": "124000", "type": "MIM"}]}], "id": 180}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 64043}, "record_status": "current", "title": "NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro) AND Mitochondrial complex III deficiency nuclear type 1", "clinvar_assertions": [{"id": 26723, "submission_id": {"local_key": "603647.0003_MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1", "submitter": "OMIM", "title": "BCS1L, ARG155PRO_MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1", "submitter_date": "2017-01-17"}, "clinvar_accession": {"acc": "SCV000026723", "version": 4, "type": "SCV", "date_updated": "2017-01-20", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2001-09-01"}], "external_ids": [{"db": "OMIM", "id": "603647.0003", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a boy of Turkish origin with complex III deficiency (MC3DN1; 124000) born to nonconsanguineous parents, de Lonlay et al. (2001) identified compound heterozygosity for 2 mutations in the BCS1L gene: a 464C-G transversion in exon 3 of the BCS1L gene, resulting in an arg155-to-pro (R155P) substitution, and a 1057G-A transition in exon 7, resulting in a val353-to-met (V353M; 603647.0004) substitution."}, "citations": [{"ids": [{"source": "PubMed", "value": "11528392"}]}], "xrefs": [{"db": "OMIM", "id": "124000", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "BCS1L, ARG155PRO"}}], "attributes": [{"type": "NonHGVS", "value": "ARG155PRO"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "BCS1L"}}]}], "xrefs": [{"db": "OMIM", "id": "603647.0003", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000006549", "version": 5, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2009-02-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a 4-year-old Spanish boy with isolated mitochondrial complex III deficiency (MC3DN1; 124000), Blazquez et al. (2009) identified a homozygous 148A-G transition in exon 1 of the BCS1L gene, resulting in a thr50-to-ala (T50A) substitution in the mitochondrial sorting sequence. He presented at 6 months of age with psychomotor retardation, failure to thrive, hypotonia, lactic acidosis, and hepatic dysfunction. Physical examination showed unstable head support, poor eye fixation, coarse facies, and epicanthus. There was hypertrichosis of the frontal head zone and limbs, and excessive fat distribution in the upper back, neck, hands and feet, with almost no fat on the limbs. Respiratory chain activity in muscle and fibroblasts showed an isolated complex III defect (58% of normal in muscle, 93% in fibroblasts). At age 4 years, he still showed psychomotor retardation, had developed mild sensorineural hearing loss, and persistent lactic acidemia, but renal function, hair, and iron metabolism were normal. Brain MRI was normal. The mutation was not found in 400 control alleles, and each unaffected parent was heterozygous for the mutation."}, "citations": [{"ids": [{"source": "PubMed", "value": "19162478"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000006173", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala)"}}], "canonical_spdi": "NC_000002.12:218661134:A:G", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001371453.1:c.-329A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371454.1:c.-329A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371455.1:c.-329A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371456.1:c.-329A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001374086.1:c.-329A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001318836.2:c.-40-271A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371451.1:c.-40-271A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371452.1:c.-41-624A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001079866.2:c.148A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001257342.2:c.148A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001257343.2:c.148A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001257344.2:c.148A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001320717.2:c.148A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371443.1:c.148A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371444.1:c.148A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371446.1:c.148A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371447.1:c.148A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371448.1:c.148A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371449.1:c.148A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001371450.1:c.148A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001374085.1:c.148A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_004328.5:c.148A>G"}, {"type": "HGVS, genomic, LRG", "value": "LRG_539:g.6480A>G"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_033099.1:g.3406T>C"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_008018.1:g.6480A>G"}, {"type": "HGVS, genomic, top level", "value": "NC_000002.12:g.218661135A>G", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.11:g.219525858A>G", "integer_value": 37}, {"type": "HGVS, non-coding", "value": "NR_163955.1:n.1160A>G"}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "Q9Y276:p.Thr50Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001073335.1:p.Thr50Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001244271.1:p.Thr50Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001244272.1:p.Thr50Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001244273.1:p.Thr50Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001307646.1:p.Thr50Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358372.1:p.Thr50Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358373.1:p.Thr50Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358375.1:p.Thr50Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358376.1:p.Thr50Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358377.1:p.Thr50Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358378.1:p.Thr50Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001358379.1:p.Thr50Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001361014.1:p.Thr50Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_004319.1:p.Thr50Ala"}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001371453.1:c.-329A>G"}]}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001371454.1:c.-329A>G"}]}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001371455.1:c.-329A>G"}]}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001371456.1:c.-329A>G"}]}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001374086.1:c.-329A>G"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001318836.2:c.-40-271A>G"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001371451.1:c.-40-271A>G"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001371452.1:c.-41-624A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001079866.2:c.148A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001257342.2:c.148A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001257343.2:c.148A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001257344.2:c.148A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001320717.2:c.148A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371443.1:c.148A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371444.1:c.148A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371446.1:c.148A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371447.1:c.148A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371448.1:c.148A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371449.1:c.148A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001371450.1:c.148A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001374085.1:c.148A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_004328.5:c.148A>G"}]}, {"type": "MolecularConsequence", "value": "non-coding transcript variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001619"}, {"db": "RefSeq", "id": "NR_163955.1:n.1160A>G"}]}, {"type": "ProteinChange1LetterCode", "value": "T50A"}, {"type": "ProteinChange3LetterCode", "value": "THR50ALA"}], "cytogenic_locations": ["2q35"], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 218661135, "stop": 218661135, "display_start": 218661135, "display_stop": 218661135, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 218661135, "reference_allele_vcf": "A", "alternate_allele_vcf": "G"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 219525858, "stop": 219525858, "display_start": 219525858, "display_stop": 219525858, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 219525858, "reference_allele_vcf": "A", "alternate_allele_vcf": "G"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone"}}], "symbols": [{"value": {"type": "Preferred", "value": "BCS1L"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 218658743, "stop": 218663443, "display_start": 218658743, "display_stop": 218663443, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 219524378, "stop": 219528165, "display_start": 219524378, "display_stop": 219528165, "strand": "+", "variant_length": 3788, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "617"}, {"db": "OMIM", "id": "603647", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:1020"}]}], "xrefs": [{"db": "UniProtKB", "id": "Q9Y276#VAR_064615"}, {"db": "OMIM", "id": "603647.0011", "type": "Allelic variant"}, {"db": "dbSNP", "id": "121908580", "type": "rs"}], "id": 21212}], "names": [{"value": {"type": "Preferred", "value": "NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala)"}}], "xrefs": [{"db": "ClinGen", "id": "CA118036"}], "id": 6173}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Mitochondrial complex III deficiency nuclear type 1"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0007415"}]}, {"value": {"type": "Alternate", "value": "Complex 3 mitochondrial respiratory chain deficiency"}}], "symbols": [{"value": {"type": "Alternate", "value": "MC3DN1"}, "xrefs": [{"db": "OMIM", "id": "124000", "type": "MIM"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0007415"}, {"db": "MedGen", "id": "C3541471"}, {"db": "Orphanet", "id": "254902"}, {"db": "OMIM", "id": "124000", "type": "MIM"}]}], "id": 180}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 64052}, "record_status": "current", "title": "NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala) AND Mitochondrial complex III deficiency nuclear type 1", "clinvar_assertions": [{"id": 26732, "submission_id": {"local_key": "603647.0011_MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1", "submitter": "OMIM", "title": "BCS1L, THR50ALA_MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1", "submitter_date": "2017-01-17"}, "clinvar_accession": {"acc": "SCV000026732", "version": 4, "type": "SCV", "date_updated": "2017-01-20", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2009-02-01"}], "external_ids": [{"db": "OMIM", "id": "603647.0011", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a 4-year-old Spanish boy with isolated mitochondrial complex III deficiency (MC3DN1; 124000), Blazquez et al. (2009) identified a homozygous 148A-G transition in exon 1 of the BCS1L gene, resulting in a thr50-to-ala (T50A) substitution in the mitochondrial sorting sequence. He presented at 6 months of age with psychomotor retardation, failure to thrive, hypotonia, lactic acidosis, and hepatic dysfunction. Physical examination showed unstable head support, poor eye fixation, coarse facies, and epicanthus. There was hypertrichosis of the frontal head zone and limbs, and excessive fat distribution in the upper back, neck, hands and feet, with almost no fat on the limbs. Respiratory chain activity in muscle and fibroblasts showed an isolated complex III defect (58% of normal in muscle, 93% in fibroblasts). At age 4 years, he still showed psychomotor retardation, had developed mild sensorineural hearing loss, and persistent lactic acidemia, but renal function, hair, and iron metabolism were normal. Brain MRI was normal. The mutation was not found in 400 control alleles, and each unaffected parent was heterozygous for the mutation."}, "citations": [{"ids": [{"source": "PubMed", "value": "19162478"}]}], "xrefs": [{"db": "OMIM", "id": "124000", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "BCS1L, THR50ALA"}}], "attributes": [{"type": "NonHGVS", "value": "THR50ALA"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "BCS1L"}}]}], "xrefs": [{"db": "OMIM", "id": "603647.0011", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000007943", "version": 4, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2004-05-25"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a patient with late onset of mitochondrial complex I deficiency nuclear type 2 (MC1DN2; 618222) manifesting as Leigh syndrome (see 256000), Procaccio and Wallace (2004) identified compound heterozygosity for 2 mutations in the NDUFS8 gene: a 254C-T transition, resulting in a pro85-to-leu (P85L) substitution, and a 413G-A transition, resulting in an arg138-to-his (R138H; 602141.0004) substitution. The patient first developed walking difficulties at age 7 years, which progressed to balance impairment, dysarthria, mild dystonic posture, and nystagmus. Brain imaging showed bilateral symmetric lesions in the putamen. Complex I activity in the patient's skeletal muscle and lymphoblasts was reduced to 31% and 43% of controls, respectively. Western blot analysis showed decreased amounts of the NDUFS8 protein and other nuclear complex I subunits, suggesting that NDUFS8 may play a role in complex I assembly. Procaccio and Wallace (2004) suggested that the mild phenotype in this patient may have resulted from partial preservation of electron transport, as neither mutation disrupted the cysteine motifs thought to be associated with 4Fe-4S clusters."}, "citations": [{"ids": [{"source": "PubMed", "value": "15159508"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000007513", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_002496.4(NDUFS8):c.254C>T (p.Pro85Leu)"}}], "canonical_spdi": "NC_000011.10:68033164:C:T", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_002496.4:c.254C>T"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_017040.1:g.7549C>T"}, {"type": "HGVS, genomic, top level", "value": "NC_000011.10:g.68033165C>T", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000011.9:g.67800632C>T", "integer_value": 37}, {"type": "HGVS, protein, RefSeq", "value": "NP_002487.1:p.Pro85Leu"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_002496.4:c.254C>T"}]}, {"type": "ProteinChange1LetterCode", "value": "P85L"}, {"type": "ProteinChange3LetterCode", "value": "PRO85LEU"}], "cytogenic_locations": ["11q13.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "11", "accession": "NC_000011.10", "start": 68033165, "stop": 68033165, "display_start": 68033165, "display_stop": 68033165, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 68033165, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}, {"assembly": "GRCh37", "chr": "11", "accession": "NC_000011.9", "start": 67800632, "stop": 67800632, "display_start": 67800632, "display_stop": 67800632, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 67800632, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "NADH:ubiquinone oxidoreductase core subunit S8"}}], "symbols": [{"value": {"type": "Preferred", "value": "NDUFS8"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "11", "accession": "NC_000011.10", "start": 68030681, "stop": 68036644, "display_start": 68030681, "display_stop": 68036644, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "11", "accession": "NC_000011.9", "start": 67798083, "stop": 67804113, "display_start": 67798083, "display_stop": 67804113, "strand": "+", "variant_length": 6031, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "4728"}, {"db": "OMIM", "id": "602141", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:7715"}]}], "xrefs": [{"db": "OMIM", "id": "602141.0003", "type": "Allelic variant"}, {"db": "dbSNP", "id": "121912639", "type": "rs"}], "id": 22552}], "names": [{"value": {"type": "Preferred", "value": "NM_002496.4(NDUFS8):c.254C>T (p.Pro85Leu)"}}], "xrefs": [{"db": "ClinGen", "id": "CA118855"}], "id": 7513}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Mitochondrial complex 1 deficiency, nuclear type 2"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0032606"}]}, {"value": {"type": "Alternate", "value": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2"}, "xrefs": [{"db": "OMIM", "id": "618222", "type": "MIM"}, {"db": "OMIM", "id": "602141.0001", "type": "Allelic variant"}, {"db": "OMIM", "id": "602141.0002", "type": "Allelic variant"}, {"db": "OMIM", "id": "602141.0003", "type": "Allelic variant"}, {"db": "OMIM", "id": "602141.0004", "type": "Allelic variant"}, {"db": "OMIM", "id": "602141.0005", "type": "Allelic variant"}, {"db": "OMIM", "id": "602141.0006", "type": "Allelic variant"}, {"db": "OMIM", "id": "602141.0007", "type": "Allelic variant"}]}], "symbols": [{"value": {"type": "Alternate", "value": "MC1DN2"}, "xrefs": [{"db": "OMIM", "id": "618222", "type": "MIM"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0032606"}, {"db": "MedGen", "id": "C4748737"}, {"db": "OMIM", "id": "618222", "type": "MIM"}]}], "id": 45314}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 65446}, "record_status": "current", "title": "NM_002496.4(NDUFS8):c.254C>T (p.Pro85Leu) AND Mitochondrial complex 1 deficiency, nuclear type 2", "clinvar_assertions": [{"id": 28148, "submission_id": {"local_key": "602141.0003_MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2", "submitter": "OMIM", "title": "NDUFS8, PRO85LEU_MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2", "submitter_date": "2018-12-13"}, "clinvar_accession": {"acc": "SCV000028148", "version": 3, "type": "SCV", "date_updated": "2018-12-16", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2004-05-25"}], "external_ids": [{"db": "OMIM", "id": "602141.0003", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a patient with late onset of mitochondrial complex I deficiency nuclear type 2 (MC1DN2; 618222) manifesting as Leigh syndrome (see 256000), Procaccio and Wallace (2004) identified compound heterozygosity for 2 mutations in the NDUFS8 gene: a 254C-T transition, resulting in a pro85-to-leu (P85L) substitution, and a 413G-A transition, resulting in an arg138-to-his (R138H; 602141.0004) substitution. The patient first developed walking difficulties at age 7 years, which progressed to balance impairment, dysarthria, mild dystonic posture, and nystagmus. Brain imaging showed bilateral symmetric lesions in the putamen. Complex I activity in the patient's skeletal muscle and lymphoblasts was reduced to 31% and 43% of controls, respectively. Western blot analysis showed decreased amounts of the NDUFS8 protein and other nuclear complex I subunits, suggesting that NDUFS8 may play a role in complex I assembly. Procaccio and Wallace (2004) suggested that the mild phenotype in this patient may have resulted from partial preservation of electron transport, as neither mutation disrupted the cysteine motifs thought to be associated with 4Fe-4S clusters."}, "citations": [{"ids": [{"source": "PubMed", "value": "15159508"}]}], "xrefs": [{"db": "OMIM", "id": "618222", "type": "MIM"}, {"db": "OMIM", "id": "256000", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "NDUFS8, PRO85LEU"}}], "attributes": [{"type": "NonHGVS", "value": "PRO85LEU"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "NDUFS8"}}]}], "xrefs": [{"db": "OMIM", "id": "602141.0003", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000008458", "version": 3, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "1999-03-16"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a family with Holt-Oram syndrome (HOS; 142900), Basson et al. (1999) identified a gly80-to-arg substitution in the TBX5 gene. They found that this mutation caused significant cardiac malformations but only minor skeletal abnormalities."}, "citations": [{"ids": [{"source": "PubMed", "value": "10077612"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000007994", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_181486.4(TBX5):c.238G>A (p.Gly80Arg)"}}], "canonical_spdi": "NC_000012.12:114401829:C:T", "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_670t1:c.238G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_000192.3:c.238G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_181486.4:c.238G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_080717.4:c.88G>A"}, {"type": "HGVS, genomic, LRG", "value": "LRG_670:g.11613G>A"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_007373.1:g.11613G>A"}, {"type": "HGVS, genomic, top level", "value": "NC_000012.12:g.114401830C>T", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000012.11:g.114839635C>T", "integer_value": 37}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "LRG_670p1:p.Gly80Arg"}, {"type": "HGVS, protein", "value": "Q99593:p.Gly80Arg"}, {"type": "HGVS, protein, RefSeq", "value": "NP_542448.1:p.Gly30Arg"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000183.2:p.Gly80Arg"}, {"type": "HGVS, protein, RefSeq", "value": "NP_852259.1:p.Gly80Arg"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_000192.3:c.238G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_080717.4:c.88G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_181486.4:c.238G>A"}]}, {"type": "ProteinChange1LetterCode", "value": "G30R"}, {"type": "ProteinChange1LetterCode", "value": "G80R"}, {"type": "ProteinChange3LetterCode", "value": "GLY80ARG"}], "cytogenic_locations": ["12q24.21"], "sequence_locations": [{"assembly": "GRCh38", "chr": "12", "accession": "NC_000012.12", "start": 114401830, "stop": 114401830, "display_start": 114401830, "display_stop": 114401830, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 114401830, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}, {"assembly": "GRCh37", "chr": "12", "accession": "NC_000012.11", "start": 114839635, "stop": 114839635, "display_start": 114839635, "display_stop": 114839635, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 114839635, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "T-box transcription factor 5"}}], "symbols": [{"value": {"type": "Preferred", "value": "TBX5"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "12", "accession": "NC_000012.12", "start": 114353911, "stop": 114408442, "display_start": 114353911, "display_stop": 114408442, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "12", "accession": "NC_000012.11", "start": 114791734, "stop": 114846246, "display_start": 114791734, "display_stop": 114846246, "strand": "-", "variant_length": 54513, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "6910"}, {"db": "OMIM", "id": "601620", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:11604"}]}], "xrefs": [{"db": "UniProtKB", "id": "Q99593#VAR_009701"}, {"db": "OMIM", "id": "601620.0004", "type": "Allelic variant"}, {"db": "dbSNP", "id": "104894381", "type": "rs"}], "id": 23033}], "names": [{"value": {"type": "Preferred", "value": "NM_181486.4(TBX5):c.238G>A (p.Gly80Arg)"}}], "xrefs": [{"db": "ClinGen", "id": "CA254300"}], "id": 7994}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Holt-Oram syndrome"}, "xrefs": [{"db": "Genetic Alliance", "id": "Holt-Oram+syndrome/3457"}, {"db": "MONDO", "id": "MONDO:0007732"}, {"db": "SNOMED CT", "id": "19092004"}]}, {"value": {"type": "Alternate", "value": "Ventriculo-radial syndrome"}}, {"value": {"type": "Alternate", "value": "Atrio digital syndrome"}}, {"value": {"type": "Alternate", "value": "Cardiac-limb syndrome"}}, {"value": {"type": "Alternate", "value": "Heart-hand syndrome, type 1"}}, {"value": {"type": "Alternate", "value": "HOS 1"}}, {"value": {"type": "Alternate", "value": "TBX5-Related Holt-Oram Syndrome"}}], "symbols": [{"value": {"type": "Preferred", "value": "HOS"}, "xrefs": [{"db": "OMIM", "id": "142900", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "HOS1"}, "xrefs": [{"db": "OMIM", "id": "142900", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1111"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301290"}, {"source": "BookShelf", "value": "NBK1111"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0007732"}, {"db": "MedGen", "id": "C0265264"}, {"db": "Orphanet", "id": "392"}, {"db": "OMIM", "id": "142900", "type": "MIM"}]}], "id": 2174}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 65961}, "record_status": "current", "title": "NM_181486.4(TBX5):c.238G>A (p.Gly80Arg) AND Holt-Oram syndrome", "clinvar_assertions": [{"id": 28666, "submission_id": {"local_key": "601620.0004_HOLT-ORAM SYNDROME", "submitter": "OMIM", "title": "TBX5, GLY80ARG_HOLT-ORAM SYNDROME", "submitter_date": "2016-09-28"}, "clinvar_accession": {"acc": "SCV000028666", "version": 2, "type": "SCV", "date_updated": "2016-10-02", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "1999-03-16"}], "external_ids": [{"db": "OMIM", "id": "601620.0004", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a family with Holt-Oram syndrome (HOS; 142900), Basson et al. (1999) identified a gly80-to-arg substitution in the TBX5 gene. They found that this mutation caused significant cardiac malformations but only minor skeletal abnormalities."}, "citations": [{"ids": [{"source": "PubMed", "value": "10077612"}]}], "xrefs": [{"db": "OMIM", "id": "142900", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "TBX5, GLY80ARG"}}], "attributes": [{"type": "NonHGVS", "value": "GLY80ARG"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "TBX5"}}]}], "xrefs": [{"db": "OMIM", "id": "601620.0004", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "HOLT-ORAM SYNDROME"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050292", "version": 7, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "benign", "date_last_evaluated": "2010-05-27"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 2}}]}], "measures": {"type": "Variant", "acc": "VCV000033886", "version": 2, "measures": [{"type": "copy number gain", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 7p22.3(chr7:101528-227833)x3"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 3}, {"type": "HGVS, genomic, top level", "value": "NC_000007.14:g.(?_101528)_(227833_?)dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000007.13:g.(?_101528)_(227833_?)dup", "integer_value": 37}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000007.12:g.(?_196611)_(322916_?)dup", "integer_value": 36}], "cytogenic_locations": ["7p22.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "inner_start": 101528, "inner_stop": 227833, "display_start": 101528, "display_stop": 227833, "variant_length": 126306, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "inner_start": 101528, "inner_stop": 227833, "display_start": 101528, "display_stop": 227833, "variant_length": 126306, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "7", "accession": "NC_000007.12", "inner_start": 196611, "inner_stop": 322916, "display_start": 196611, "display_stop": 322916, "variant_length": 126306, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "FAM20C golgi associated secretory pathway kinase"}}], "symbols": [{"value": {"type": "Preferred", "value": "FAM20C"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 192571, "stop": 260772, "display_start": 192571, "display_stop": 260772, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NT_187558.1", "start": 151975, "stop": 155136, "display_start": 151975, "display_stop": 155136, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NT_187653.1", "start": 184892, "stop": 188053, "display_start": 184892, "display_stop": 188053, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NW_021159998.1", "start": 168259, "stop": 235989, "display_start": 168259, "display_stop": 235989, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "start": 192968, "stop": 300739, "display_start": 192968, "display_stop": 300739, "strand": "+", "variant_length": 107772, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "56975"}, {"db": "OMIM", "id": "611061", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:22140"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "Sharpr-MPRA regulatory region 13780"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC113687202"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 149169, "stop": 149463, "display_start": 149169, "display_stop": 149463, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NT_187558.1", "start": 104969, "stop": 105268, "display_start": 104969, "display_stop": 105268, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NT_187653.1", "start": 141490, "stop": 141784, "display_start": 141490, "display_stop": 141784, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NW_021159998.1", "start": 124857, "stop": 125151, "display_start": 124857, "display_stop": 125151, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "113687202"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "long intergenic non-protein coding RNA 3014"}}], "symbols": [{"value": {"type": "Preferred", "value": "LINC03014"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 149718, "stop": 155465, "display_start": 149718, "display_stop": 155465, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NT_187558.1", "start": 105523, "stop": 111270, "display_start": 105523, "display_stop": 111270, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NT_187653.1", "start": 142039, "stop": 147786, "display_start": 142039, "display_stop": 147786, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NW_021159998.1", "start": 125406, "stop": 131153, "display_start": 125406, "display_stop": 131153, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "100507642"}, {"db": "HGNC", "id": "HGNC:56142"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "long intergenic non-protein coding RNA 3015"}}], "symbols": [{"value": {"type": "Preferred", "value": "LINC03015"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 144444, "stop": 149438, "display_start": 144444, "display_stop": 149438, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NT_187558.1", "start": 100243, "stop": 105238, "display_start": 100243, "display_stop": 105238, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NT_187653.1", "start": 136765, "stop": 141759, "display_start": 136765, "display_stop": 141759, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NW_021159998.1", "start": 120132, "stop": 125126, "display_start": 120132, "display_stop": 125126, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "102723672"}, {"db": "HGNC", "id": "HGNC:56143"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "uncharacterized LOC105375115"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC105375115"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 174920, "stop": 176013, "display_start": 174920, "display_stop": 176013, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NT_187558.1", "start": 134324, "stop": 135417, "display_start": 134324, "display_stop": 135417, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NT_187653.1", "start": 167241, "stop": 168334, "display_start": 167241, "display_stop": 168334, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NW_021159998.1", "start": 150608, "stop": 151701, "display_start": 150608, "display_stop": 151701, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "105375115"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3395848"}, {"db": "dbVar", "id": "nssv575365"}, {"db": "dbVar", "id": "nsv491671"}], "id": 42551}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 7p22.3(chr7:101528-227833)x3"}}], "id": 33886}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137761}, "record_status": "current", "title": "GRCh38/hg38 7p22.3(chr7:101528-227833)x3 AND See cases", "clinvar_assertions": [{"id": 312473, "submission_id": {"local_key": "nsv491671:copy number gain:See cases:3:SCV000173034", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000173034", "version": 3, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2014-08-30", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2010-05-27"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Scoliosis"}}], "xrefs": [{"db": "HP", "id": "HP:0002650"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575365", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395848", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number gain", "attributes": [{"type": "AbsoluteCopyNumber", "value": "3"}, {"type": "HGVS", "value": "NC_000007.12:g.(?_196611)_(322916_?)dup"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "7", "accession": "NC_000007.12", "inner_start": 196611, "inner_stop": 322916}], "xrefs": [{"db": "dbVar", "id": "nssv575365", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395848", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv491671", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050299", "version": 8, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "uncertain significance", "date_last_evaluated": "2010-05-27"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "maternal", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 2}}]}], "measures": {"type": "Variant", "acc": "VCV000033926", "version": 2, "measures": [{"type": "copy number gain", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 1q21.2(chr1:147756734-147776466)x3"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 3}, {"type": "HGVS, genomic, top level", "value": "NC_000001.11:g.(?_147756734)_(147776466_?)dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000001.9:g.(?_145695491)_(145715201_?)dup", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000001.10:g.(?_147228867)_(147248577_?)dup", "integer_value": 37}], "cytogenic_locations": ["1q21.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "inner_start": 147756734, "inner_stop": 147776466, "display_start": 147756734, "display_stop": 147776466, "variant_length": 19733, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "inner_start": 147228867, "inner_stop": 147248577, "display_start": 147228867, "display_stop": 147248577, "variant_length": 19711, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "1", "accession": "NC_000001.9", "inner_start": 145695491, "inner_stop": 145715201, "display_start": 145695491, "display_stop": 145715201, "variant_length": 19711, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "Sharpr-MPRA regulatory region 3144"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC122128420"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "start": 147758381, "stop": 147758675, "display_start": 147758381, "display_stop": 147758675, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "122128420"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "gap junction protein alpha 5"}}], "symbols": [{"value": {"type": "Preferred", "value": "GJA5"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "start": 147756199, "stop": 147773351, "display_start": 147756199, "display_stop": 147773351, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "start": 147228331, "stop": 147245483, "display_start": 147228331, "display_stop": 147245483, "strand": "-", "variant_length": 17153, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "2702"}, {"db": "OMIM", "id": "121013", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:4279"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3396400"}, {"db": "dbVar", "id": "nssv575400"}, {"db": "dbVar", "id": "nssv576752"}, {"db": "dbVar", "id": "nsv491683"}], "id": 42591}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 1q21.2(chr1:147756734-147776466)x3"}}], "id": 33926}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137768}, "record_status": "current", "replaces": ["RCV000050300"], "title": "GRCh38/hg38 1q21.2(chr1:147756734-147776466)x3 AND See cases", "clinvar_assertions": [{"id": 312482, "submission_id": {"local_key": "nsv491683:copy number gain:See cases:3:SCV000173043", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000173043", "version": 3, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2014-08-30", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["uncertain significance"], "date_last_evaluated": "2010-05-27"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Microcephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0000252"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575400", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "maternal", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hydrocephalus"}}], "xrefs": [{"db": "HP", "id": "HP:0000238"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormal facial shape"}}], "xrefs": [{"db": "HP", "id": "HP:0001999"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Seizure"}}], "xrefs": [{"db": "HP", "id": "HP:0001275"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Holoprosencephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0001360"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576752", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396400", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number gain", "attributes": [{"type": "AbsoluteCopyNumber", "value": "3"}, {"type": "HGVS", "value": "NC_000001.9:g.(?_145695491)_(145715201_?)dup"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "1", "accession": "NC_000001.9", "inner_start": 145695491, "inner_stop": 145715201}], "xrefs": [{"db": "dbVar", "id": "nssv575400", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576752", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396400", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv491683", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050317", "version": 7, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "uncertain significance", "date_last_evaluated": "2010-05-27"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 2}}]}], "measures": {"type": "Variant", "acc": "VCV000033265", "version": 2, "measures": [{"type": "copy number gain", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 7q11.22(chr7:70891025-71072442)x3"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 3}, {"type": "HGVS, genomic, top level", "value": "NC_000007.14:g.(?_70891025)_(71072442_?)dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000007.12:g.(?_69993947)_(70175364_?)dup", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000007.13:g.(?_70356011)_(70537428_?)dup", "integer_value": 37}], "cytogenic_locations": ["7q11.22"], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "inner_start": 70891025, "inner_stop": 71072442, "display_start": 70891025, "display_stop": 71072442, "variant_length": 181418, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "inner_start": 70356011, "inner_stop": 70537428, "display_start": 70356011, "display_stop": 70537428, "variant_length": 181418, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "7", "accession": "NC_000007.12", "inner_start": 69993947, "inner_stop": 70175364, "display_start": 69993947, "display_stop": 70175364, "variant_length": 181418, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "xrefs": [{"db": "dbVar", "id": "nssv3396439"}, {"db": "dbVar", "id": "nssv575432"}, {"db": "dbVar", "id": "nsv491692"}], "id": 41930}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 7q11.22(chr7:70891025-71072442)x3"}}], "id": 33265}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137786}, "record_status": "current", "title": "GRCh38/hg38 7q11.22(chr7:70891025-71072442)x3 AND See cases", "clinvar_assertions": [{"id": 312492, "submission_id": {"local_key": "nsv491692:copy number gain:See cases:3:SCV000173052", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000173052", "version": 3, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2014-08-30", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["uncertain significance"], "date_last_evaluated": "2010-05-27"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575432", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396439", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number gain", "attributes": [{"type": "AbsoluteCopyNumber", "value": "3"}, {"type": "HGVS", "value": "NC_000007.12:g.(?_69993947)_(70175364_?)dup"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "7", "accession": "NC_000007.12", "inner_start": 69993947, "inner_stop": 70175364}], "xrefs": [{"db": "dbVar", "id": "nssv575432", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396439", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv491692", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050319", "version": 7, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "uncertain significance", "date_last_evaluated": "2010-05-27"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 2}}]}], "measures": {"type": "Variant", "acc": "VCV000033404", "version": 2, "measures": [{"type": "copy number gain", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 7p21.3(chr7:10610069-11290160)x3"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 3}, {"type": "HGVS, genomic, top level", "value": "NC_000007.14:g.(?_10610069)_(11290160_?)dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000007.12:g.(?_10616221)_(11296312_?)dup", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000007.13:g.(?_10649696)_(11329787_?)dup", "integer_value": 37}], "cytogenic_locations": ["7p21.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "inner_start": 10610069, "inner_stop": 11290160, "display_start": 10610069, "display_stop": 11290160, "variant_length": 680092, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "inner_start": 10649696, "inner_stop": 11329787, "display_start": 10649696, "display_stop": 11329787, "variant_length": 680092, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "7", "accession": "NC_000007.12", "inner_start": 10616221, "inner_stop": 11296312, "display_start": 10616221, "display_stop": 11296312, "variant_length": 680092, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "NDUFA4 mitochondrial complex associated"}}], "symbols": [{"value": {"type": "Preferred", "value": "NDUFA4"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 10931943, "stop": 10940153, "display_start": 10931943, "display_stop": 10940153, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "start": 10971579, "stop": 10979812, "display_start": 10971579, "display_stop": 10979812, "strand": "-", "variant_length": 8234, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "4697"}, {"db": "OMIM", "id": "603833", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:7687"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "PHD finger protein 14"}}], "symbols": [{"value": {"type": "Preferred", "value": "PHF14"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 10973872, "stop": 11169618, "display_start": 10973872, "display_stop": 11169618, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "start": 11013498, "stop": 11209249, "display_start": 11013498, "display_stop": 11209249, "strand": "+", "variant_length": 195752, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "9678"}, {"db": "HGNC", "id": "HGNC:22203"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "Sharpr-MPRA regulatory region 7861"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC113687186"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 10973642, "stop": 10973936, "display_start": 10973642, "display_stop": 10973936, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "113687186"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "VISTA enhancer hs793"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC110120772"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 10644691, "stop": 10645732, "display_start": 10644691, "display_stop": 10645732, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "110120772"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "uncharacterized LOC100131472"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC100131472"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 10702676, "stop": 10707538, "display_start": 10702676, "display_stop": 10707538, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "100131472"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "uncharacterized LOC79150"}}], "symbols": [{"value": {"type": "Preferred", "value": "MGC4859"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 10449820, "stop": 10779944, "display_start": 10449820, "display_stop": 10779944, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "79150"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3396634"}, {"db": "dbVar", "id": "nssv575435"}, {"db": "dbVar", "id": "nsv491695"}], "id": 42069}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 7p21.3(chr7:10610069-11290160)x3"}}], "id": 33404}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137788}, "record_status": "current", "title": "GRCh38/hg38 7p21.3(chr7:10610069-11290160)x3 AND See cases", "clinvar_assertions": [{"id": 312494, "submission_id": {"local_key": "nsv491695:copy number gain:See cases:3:SCV000173054", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000173054", "version": 3, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2014-08-30", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["uncertain significance"], "date_last_evaluated": "2010-05-27"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hypoplastic left heart"}}], "xrefs": [{"db": "HP", "id": "HP:0004383"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Dehydration"}}], "xrefs": [{"db": "HP", "id": "HP:0001944"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Gastroesophageal reflux"}}], "xrefs": [{"db": "HP", "id": "HP:0002020"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Feeding difficulties in infancy"}}], "xrefs": [{"db": "HP", "id": "HP:0002022"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Anemia"}}], "xrefs": [{"db": "HP", "id": "HP:0001903"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Colitis"}}], "xrefs": [{"db": "HP", "id": "HP:0002583"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575435", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396634", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number gain", "attributes": [{"type": "AbsoluteCopyNumber", "value": "3"}, {"type": "HGVS", "value": "NC_000007.12:g.(?_10616221)_(11296312_?)dup"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "7", "accession": "NC_000007.12", "inner_start": 10616221, "inner_stop": 11296312}], "xrefs": [{"db": "dbVar", "id": "nssv575435", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396634", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv491695", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050337", "version": 7, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "uncertain significance", "date_last_evaluated": "2010-05-27"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing", "clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 3}}]}], "measures": {"type": "Variant", "acc": "VCV000034363", "version": 2, "measures": [{"type": "copy number gain", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 3}, {"type": "HGVS, genomic, top level", "value": "NC_000021.9:g.(?_7743711)_(7865746_?)dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000021.8:g.(?_35734654)_(35879759_?)dup", "integer_value": 37}], "cytogenic_locations": ["21p11.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "21", "accession": "NC_000021.9", "inner_start": 7743711, "inner_stop": 7865746, "display_start": 7743711, "display_stop": 7865746, "variant_length": 122036, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "21", "accession": "NC_000021.8", "inner_start": 35734654, "inner_stop": 35879759, "display_start": 35734654, "display_stop": 35879759, "variant_length": 145106, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "21", "accession": "NC_000021.7", "inner_start": 34656524, "inner_stop": 34801629, "display_start": 34656524, "display_stop": 34801629, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "family with sequence similarity 243 member B"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC102723451"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "21", "accession": "NC_000021.9", "start": 7769588, "stop": 7770548, "display_start": 7769588, "display_stop": 7770548, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "102723451"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "potassium voltage-gated channel subfamily E regulatory subunit 1B"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC102723475"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "21", "accession": "NC_000021.9", "start": 7816677, "stop": 7829632, "display_start": 7816677, "display_stop": 7829632, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "102723475"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "small integral membrane protein 11B"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC102723553"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "21", "accession": "NC_000021.9", "start": 7744951, "stop": 7772245, "display_start": 7744951, "display_stop": 7772245, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "102723553"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "small integral membrane protein 34B"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC107983987"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "21", "accession": "NC_000021.9", "start": 7784487, "stop": 7793939, "display_start": 7784487, "display_stop": 7793939, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "107983987"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3395889"}, {"db": "dbVar", "id": "nssv575609"}, {"db": "dbVar", "id": "nssv576633"}, {"db": "dbVar", "id": "nsv491742"}], "id": 43028}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3"}}], "id": 34363}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137806}, "record_status": "current", "replaces": ["RCV000050338"], "title": "GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3 AND See cases", "clinvar_assertions": [{"id": 312538, "submission_id": {"local_key": "nsv491742:copy number gain:See cases:3:SCV000173099", "submitter": "ISCA site 4", "submitter_date": "2017-02-23"}, "clinvar_accession": {"acc": "SCV000173099", "version": 3, "type": "SCV", "date_updated": "2015-01-02", "date_created": "2014-08-30", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["uncertain significance"], "date_last_evaluated": "2010-05-27"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575609", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Complete atrioventricular canal defect"}}], "xrefs": [{"db": "HP", "id": "HP:0001674"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576633", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395889", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number gain", "attributes": [{"type": "AbsoluteCopyNumber", "value": "3"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "21", "accession": "NC_000021.7", "inner_start": 34656524, "inner_stop": 34801629}], "xrefs": [{"db": "dbVar", "id": "nssv575609", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576633", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395889", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv491742", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}, {"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/]."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050339", "version": 4, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "benign", "date_last_evaluated": "2011-08-12"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000161078", "version": 1, "measures": [{"type": "copy number gain", "names": [{"value": {"type": "Preferred", "value": "GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 3}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000001.9:g.(?_147307637)_(147966044_?)dup", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000001.10:g.(?_149041013)_(149699420_?)dup", "integer_value": 37}], "cytogenic_locations": ["1q21.2"], "sequence_locations": [{"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "inner_start": 149041013, "inner_stop": 149699420, "display_start": 149041013, "display_stop": 149699420, "variant_length": 658408, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "1", "accession": "NC_000001.9", "inner_start": 147307637, "inner_stop": 147966044, "display_start": 147307637, "display_stop": 147966044, "variant_length": 658408, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "family with sequence similarity 72 member C"}}], "symbols": [{"value": {"type": "Preferred", "value": "FAM72C"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "start": 143955287, "stop": 143973564, "display_start": 143955287, "display_stop": 143973564, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "start": 149449933, "stop": 149459448, "display_start": 149449933, "display_stop": 149459448, "strand": "-", "variant_length": 9516, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "554282"}, {"db": "OMIM", "id": "616853", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:30602"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "peptidylprolyl isomerase A like 4C"}}], "symbols": [{"value": {"type": "Preferred", "value": "PPIAL4C"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "start": 149583848, "stop": 149584607, "display_start": 149583848, "display_stop": 149584607, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "start": 149553002, "stop": 149553786, "display_start": 149553002, "display_stop": 149553786, "strand": "+", "variant_length": 785, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "653598"}, {"db": "HGNC", "id": "HGNC:33995"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "tRNA-His (GTG) 2-1"}}], "symbols": [{"value": {"type": "Preferred", "value": "TRH-GTG2-1"}}], "sequence_locations": [{"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "start": 149155828, "stop": 149155899, "display_start": 149155828, "display_stop": 149155899, "strand": "-", "variant_length": 72, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "100189350"}, {"db": "HGNC", "id": "HGNC:34918"}]}], "xrefs": [{"db": "dbVar", "id": "nssv579403"}, {"db": "dbVar", "id": "nsv1067800"}], "id": 170922}], "names": [{"value": {"type": "Preferred", "value": "GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3"}}], "id": 161078}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137808}, "record_status": "current", "title": "GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3 AND See cases", "clinvar_assertions": [{"id": 133615, "submission_id": {"local_key": "nsv1067800:copy number gain:See cases:3:SCV000077646", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000077646", "version": 4, "type": "SCV", "date_updated": "2015-06-28", "date_created": "2013-08-03", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["benign"], "date_last_evaluated": "2011-08-12"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Kaminsky et al. (Genet Med. 2011)"}, "citations": [{"ids": [{"source": "PubMed", "value": "21844811"}], "type": "general"}]}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv579403", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number gain", "attributes": [{"type": "AbsoluteCopyNumber", "value": "3"}, {"type": "HGVS", "value": "NC_000001.9:g.(?_147307637)_(147966044_?)dup"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "1", "accession": "NC_000001.9", "inner_start": 147307637, "inner_stop": 147966044}], "xrefs": [{"db": "dbVar", "id": "nssv579403", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv1067800", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "21844811"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "21844811"}], "type": "general"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050458", "version": 8, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "benign", "date_last_evaluated": "2013-08-26"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing", "clinical testing", "clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 20}}]}], "measures": {"type": "Variant", "acc": "VCV000032364", "version": 2, "measures": [{"type": "copy number gain", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 2q37.3(chr2:241988449-242065208)x3"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 3}, {"type": "HGVS, genomic, top level", "value": "NC_000002.12:g.(?_241988449)_(242065208_?)dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.10:g.(?_242579273)_(242656032_?)dup", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.11:g.(?_242930600)_(243007359_?)dup", "integer_value": 37}], "cytogenic_locations": ["2q37.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "inner_start": 241988449, "inner_stop": 242065208, "display_start": 241988449, "display_stop": 242065208, "variant_length": 76760, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "inner_start": 242930600, "inner_stop": 243007359, "display_start": 242930600, "display_stop": 243007359, "variant_length": 76760, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "2", "accession": "NC_000002.10", "inner_start": 242579273, "inner_stop": 242656032, "display_start": 242579273, "display_stop": 242656032, "variant_length": 76760, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "Sharpr-MPRA regulatory region 9157"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC122889016"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 242062018, "stop": 242062312, "display_start": 242062018, "display_stop": 242062312, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187523.1", "start": 106088, "stop": 106382, "display_start": 106088, "display_stop": 106382, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187647.1", "start": 105728, "stop": 106022, "display_start": 105728, "display_stop": 106022, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "122889016"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "long intergenic non-protein coding RNA 1880"}}], "symbols": [{"value": {"type": "Preferred", "value": "LINC01880"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 242047684, "stop": 242084138, "display_start": 242047684, "display_stop": 242084138, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187523.1", "start": 91754, "stop": 128208, "display_start": 91754, "display_stop": 128208, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187647.1", "start": 91394, "stop": 127848, "display_start": 91394, "display_stop": 127848, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "105373979"}, {"db": "HGNC", "id": "HGNC:52699"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "uncharacterized FLJ38379"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC285097"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 242001209, "stop": 242006013, "display_start": 242001209, "display_stop": 242006013, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187523.1", "start": 39904, "stop": 44708, "display_start": 39904, "display_stop": 44708, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187647.1", "start": 39904, "stop": 44708, "display_start": 39904, "display_stop": 44708, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "285097"}]}, {"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "long intergenic non-protein coding RNA 1237"}}], "symbols": [{"value": {"type": "Preferred", "value": "LINC01237"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 241881363, "stop": 242078722, "display_start": 241881363, "display_stop": 242078722, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187523.1", "start": 4619, "stop": 122792, "display_start": 4619, "display_stop": 122792, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187527.1", "start": 93461, "stop": 94735, "display_start": 93461, "display_stop": 94735, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187647.1", "start": 4619, "stop": 122432, "display_start": 4619, "display_stop": 122432, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "101927289"}, {"db": "HGNC", "id": "HGNC:49793"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3395895"}, {"db": "dbVar", "id": "nssv3395930"}, {"db": "dbVar", "id": "nssv3396016"}, {"db": "dbVar", "id": "nssv3396025"}, {"db": "dbVar", "id": "nssv3396132"}, {"db": "dbVar", "id": "nssv3396229"}, {"db": "dbVar", "id": "nssv3396286"}, {"db": "dbVar", "id": "nssv3396340"}, {"db": "dbVar", "id": "nssv3396631"}, {"db": "dbVar", "id": "nssv575254"}, {"db": "dbVar", "id": "nssv575295"}, {"db": "dbVar", "id": "nssv575341"}, {"db": "dbVar", "id": "nssv575385"}, {"db": "dbVar", "id": "nssv575614"}, {"db": "dbVar", "id": "nssv575656"}, {"db": "dbVar", "id": "nssv576429"}, {"db": "dbVar", "id": "nssv576449"}, {"db": "dbVar", "id": "nssv576493"}, {"db": "dbVar", "id": "nssv576738"}, {"db": "dbVar", "id": "nssv706510"}, {"db": "dbVar", "id": "nsv529146"}], "id": 41029}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 2q37.3(chr2:241988449-242065208)x3"}}], "id": 32364}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137927}, "record_status": "current", "replaces": ["RCV000050459", "RCV000050460", "RCV000050461", "RCV000050462"], "title": "GRCh38/hg38 2q37.3(chr2:241988449-242065208)x3 AND See cases", "clinvar_assertions": [{"id": 332165, "submission_id": {"local_key": "nsv529146:copy number gain:See cases:3:SCV000175197", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000175197", "version": 3, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2014-09-01", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2013-08-26"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575254", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575295", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Omphalocele"}}], "xrefs": [{"db": "HP", "id": "HP:0001539"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575341", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575385", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Failure to thrive"}}], "xrefs": [{"db": "HP", "id": "HP:0001508"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575614", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575656", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576429", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576449", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576493", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576738", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hemihypertrophy"}}], "xrefs": [{"db": "HP", "id": "HP:0001528"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv706510", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395895", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395930", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396016", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396025", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396132", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396229", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396286", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396340", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396631", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number gain", "attributes": [{"type": "AbsoluteCopyNumber", "value": "3"}, {"type": "HGVS", "value": "NC_000002.10:g.(?_242579273)_(242656032_?)dup"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "2", "accession": "NC_000002.10", "inner_start": 242579273, "inner_stop": 242656032}], "xrefs": [{"db": "dbVar", "id": "nssv575254", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575295", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575341", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575385", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575614", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575656", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576429", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576449", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576493", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576738", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv706510", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395895", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395930", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396016", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396025", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396132", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396229", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396286", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396340", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396631", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv529146", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050474", "version": 7, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "benign", "date_last_evaluated": "2010-10-19"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing", "clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 2}}]}], "measures": {"type": "Variant", "acc": "VCV000056992", "version": 2, "measures": [{"type": "copy number gain", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 6p25.3(chr6:259528-307998)x3"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 3}, {"type": "HGVS, genomic, top level", "value": "NC_000006.12:g.(?_259528)_(307998_?)dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000006.10:g.(?_204528)_(252998_?)dup", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000006.11:g.(?_259528)_(307998_?)dup", "integer_value": 37}], "cytogenic_locations": ["6p25.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "inner_start": 259528, "inner_stop": 307998, "display_start": 259528, "display_stop": 307998, "variant_length": 48471, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "inner_start": 259528, "inner_stop": 307998, "display_start": 259528, "display_stop": 307998, "variant_length": 48471, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "6", "accession": "NC_000006.10", "inner_start": 204528, "inner_stop": 252998, "display_start": 204528, "display_stop": 252998, "variant_length": 48471, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "dual specificity phosphatase 22"}}], "symbols": [{"value": {"type": "Preferred", "value": "DUSP22"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "start": 292487, "stop": 351355, "display_start": 292487, "display_stop": 351355, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "start": 292100, "stop": 351354, "display_start": 292100, "display_stop": 351354, "strand": "+", "variant_length": 59255, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "56940"}, {"db": "OMIM", "id": "616778", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:16077"}]}], "xrefs": [{"db": "dbVar", "id": "nssv581836"}, {"db": "dbVar", "id": "nssv582007"}, {"db": "dbVar", "id": "nsv529150"}], "id": 71587}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 6p25.3(chr6:259528-307998)x3"}}], "id": 56992}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137943}, "record_status": "current", "replaces": ["RCV000050475", "RCV000050476", "RCV000050477", "RCV000050478", "RCV000050479", "RCV000050480", "RCV000050481"], "title": "GRCh38/hg38 6p25.3(chr6:259528-307998)x3 AND See cases", "clinvar_assertions": [{"id": 350852, "submission_id": {"local_key": "nsv529150:copy number gain:See cases:3:SCV000196254", "submitter": "ISCA site 17", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000196254", "version": 2, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2015-01-02", "org_id": "505238", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "replaced_list": [{"accession": "SCV000175203", "version": 1, "date_changed": "2015-01-01"}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2009-07-30"}], "observed_in": [{"sample": {"description": {"description": {"text": "p25.3", "type": "public"}}, "origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv582007", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number gain", "attributes": [{"type": "AbsoluteCopyNumber", "value": "3"}, {"type": "HGVS", "value": "NC_000006.10:g.(?_204528)_(252998_?)dup"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "6", "accession": "NC_000006.10", "inner_start": 204528, "inner_stop": 252998}], "xrefs": [{"db": "dbVar", "id": "nssv582007", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv529150", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}, {"id": 350976, "submission_id": {"local_key": "nsv529150:copy number gain:See cases:3:SCV000196255", "submitter": "ISCA site 8", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000196255", "version": 2, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2015-01-02", "org_id": "505285", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2010-10-19"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Obesity"}}], "xrefs": [{"db": "HP", "id": "HP:0001513"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv581836", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number gain", "attributes": [{"type": "AbsoluteCopyNumber", "value": "3"}, {"type": "HGVS", "value": "NC_000006.10:g.(?_204528)_(252998_?)dup"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "6", "accession": "NC_000006.10", "inner_start": 204528, "inner_stop": 252998}], "xrefs": [{"db": "dbVar", "id": "nssv581836", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv529150", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050518", "version": 8, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "benign", "date_last_evaluated": "2013-08-02"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing", "clinical testing", "clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 48}}]}], "measures": {"type": "Variant", "acc": "VCV000032174", "version": 2, "measures": [{"type": "copy number gain", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 6p25.3(chr6:259528-293493)x3"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 3}, {"type": "HGVS, genomic, top level", "value": "NC_000006.12:g.(?_259528)_(293493_?)dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000006.10:g.(?_204528)_(238493_?)dup", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000006.11:g.(?_259528)_(293493_?)dup", "integer_value": 37}], "cytogenic_locations": ["6p25.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "inner_start": 259528, "inner_stop": 293493, "display_start": 259528, "display_stop": 293493, "variant_length": 33966, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "inner_start": 259528, "inner_stop": 293493, "display_start": 259528, "display_stop": 293493, "variant_length": 33966, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "6", "accession": "NC_000006.10", "inner_start": 204528, "inner_stop": 238493, "display_start": 204528, "display_stop": 238493, "variant_length": 33966, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "dual specificity phosphatase 22"}}], "symbols": [{"value": {"type": "Preferred", "value": "DUSP22"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "start": 292487, "stop": 351355, "display_start": 292487, "display_stop": 351355, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "start": 292100, "stop": 351354, "display_start": 292100, "display_stop": 351354, "strand": "+", "variant_length": 59255, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "56940"}, {"db": "OMIM", "id": "616778", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:16077"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3395689"}, {"db": "dbVar", "id": "nssv3395735"}, {"db": "dbVar", "id": "nssv3395739"}, {"db": "dbVar", "id": "nssv3395827"}, {"db": "dbVar", "id": "nssv3395830"}, {"db": "dbVar", "id": "nssv3395847"}, {"db": "dbVar", "id": "nssv3395913"}, {"db": "dbVar", "id": "nssv3395916"}, {"db": "dbVar", "id": "nssv3395926"}, {"db": "dbVar", "id": "nssv3395950"}, {"db": "dbVar", "id": "nssv3395972"}, {"db": "dbVar", "id": "nssv3395985"}, {"db": "dbVar", "id": "nssv3395989"}, {"db": "dbVar", "id": "nssv3396007"}, {"db": "dbVar", "id": "nssv3396279"}, {"db": "dbVar", "id": "nssv3396345"}, {"db": "dbVar", "id": "nssv3396636"}, {"db": "dbVar", "id": "nssv575323"}, {"db": "dbVar", "id": "nssv575405"}, {"db": "dbVar", "id": "nssv575507"}, {"db": "dbVar", "id": "nssv575538"}, {"db": "dbVar", "id": "nssv575542"}, {"db": "dbVar", "id": "nssv575545"}, {"db": "dbVar", "id": "nssv575548"}, {"db": "dbVar", "id": "nssv575566"}, {"db": "dbVar", "id": "nssv575633"}, {"db": "dbVar", "id": "nssv575634"}, {"db": "dbVar", "id": "nssv575644"}, {"db": "dbVar", "id": "nssv575648"}, {"db": "dbVar", "id": "nssv575705"}, {"db": "dbVar", "id": "nssv576417"}, {"db": "dbVar", "id": "nssv576431"}, {"db": "dbVar", "id": "nssv576437"}, {"db": "dbVar", "id": "nssv576441"}, {"db": "dbVar", "id": "nssv576574"}, {"db": "dbVar", "id": "nssv576584"}, {"db": "dbVar", "id": "nssv576602"}, {"db": "dbVar", "id": "nssv576605"}, {"db": "dbVar", "id": "nssv576622"}, {"db": "dbVar", "id": "nssv576654"}, {"db": "dbVar", "id": "nssv576659"}, {"db": "dbVar", "id": "nssv576670"}, {"db": "dbVar", "id": "nssv576674"}, {"db": "dbVar", "id": "nssv576676"}, {"db": "dbVar", "id": "nssv576687"}, {"db": "dbVar", "id": "nssv576713"}, {"db": "dbVar", "id": "nssv581821"}, {"db": "dbVar", "id": "nssv706558"}, {"db": "dbVar", "id": "nsv529216"}], "id": 40839}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 6p25.3(chr6:259528-293493)x3"}}], "id": 32174}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137987}, "record_status": "current", "replaces": ["RCV000050519", "RCV000050520", "RCV000050521", "RCV000050522", "RCV000050523", "RCV000050524", "RCV000050525", "RCV000050526", "RCV000050527"], "title": "GRCh38/hg38 6p25.3(chr6:259528-293493)x3 AND See cases", "clinvar_assertions": [{"id": 350935, "submission_id": {"local_key": "nsv529216:copy number gain:See cases:3:SCV000196264", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000196264", "version": 2, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2015-01-02", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "replaced_list": [{"accession": "SCV000175240", "version": 1, "date_changed": "2015-01-01"}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2013-08-02"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the nervous system"}}], "xrefs": [{"db": "HP", "id": "HP:0000707"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575323", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Seizure"}}], "xrefs": [{"db": "HP", "id": "HP:0001250"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Seizure"}}], "xrefs": [{"db": "HP", "id": "HP:0001275"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575405", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the nervous system"}}], "xrefs": [{"db": "HP", "id": "HP:0000707"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575507", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575538", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575542", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575545", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of cardiac morphology"}}], "xrefs": [{"db": "HP", "id": "HP:0001627"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575548", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Seizure"}}], "xrefs": [{"db": "HP", "id": "HP:0001250"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Holoprosencephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0001360"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575566", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575633", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575634", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575644", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575648", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Esophageal atresia"}}], "xrefs": [{"db": "HP", "id": "HP:0002032"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Anal atresia"}}], "xrefs": [{"db": "HP", "id": "HP:0002023"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575705", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Intrauterine growth retardation"}}], "xrefs": [{"db": "HP", "id": "HP:0001511"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576417", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576431", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Nonprogressive encephalopathy"}}], "xrefs": [{"db": "HP", "id": "HP:0007030"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576437", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576441", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Epispadias"}}], "xrefs": [{"db": "HP", "id": "HP:0000039"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Specific learning disability"}}], "xrefs": [{"db": "HP", "id": "HP:0001328"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Feeding difficulties in infancy"}}], "xrefs": [{"db": "HP", "id": "HP:0002022"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hypospadias"}}], "xrefs": [{"db": "HP", "id": "HP:0000047"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576574", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576584", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Failure to thrive"}}], "xrefs": [{"db": "HP", "id": "HP:0001508"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576602", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of cardiac morphology"}}], "xrefs": [{"db": "HP", "id": "HP:0001627"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576605", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hypothyroidism"}}], "xrefs": [{"db": "HP", "id": "HP:0000821"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576622", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576654", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Seizure"}}], "xrefs": [{"db": "HP", "id": "HP:0001250"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576659", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hydrops fetalis"}}], "xrefs": [{"db": "HP", "id": "HP:0001789"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576670", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the diaphragm"}}], "xrefs": [{"db": "HP", "id": "HP:0000775"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Split hand"}}], "xrefs": [{"db": "HP", "id": "HP:0001171"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Arthrogryposis multiplex congenita"}}], "xrefs": [{"db": "HP", "id": "HP:0001390"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576674", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576676", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576687", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576713", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Polymicrogyria"}}], "xrefs": [{"db": "HP", "id": "HP:0002126"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv706558", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395689", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395735", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395739", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395827", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395830", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395847", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395913", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395916", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395926", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395950", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395972", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395985", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395989", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396007", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396279", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396345", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396636", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number gain", "attributes": [{"type": "AbsoluteCopyNumber", "value": "3"}, {"type": "HGVS", "value": "NC_000006.10:g.(?_204528)_(238493_?)dup"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "6", "accession": "NC_000006.10", "inner_start": 204528, "inner_stop": 238493}], "xrefs": [{"db": "dbVar", "id": "nssv575323", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575405", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575507", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575538", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575542", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575545", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575548", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575566", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575633", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575634", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575644", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575648", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575705", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576417", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576431", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576437", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576441", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576574", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576584", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576602", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576605", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576622", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576654", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576659", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576670", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576674", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576676", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576687", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576713", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv706558", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395689", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395735", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395739", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395827", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395830", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395847", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395913", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395916", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395926", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395950", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395972", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395985", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395989", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396007", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396279", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396345", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396636", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv529216", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}, {"id": 350977, "submission_id": {"local_key": "nsv529216:copy number gain:See cases:3:SCV000196265", "submitter": "ISCA site 8", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000196265", "version": 2, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2015-01-02", "org_id": "505285", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2010-10-19"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv581821", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number gain", "attributes": [{"type": "AbsoluteCopyNumber", "value": "3"}, {"type": "HGVS", "value": "NC_000006.10:g.(?_204528)_(238493_?)dup"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "6", "accession": "NC_000006.10", "inner_start": 204528, "inner_stop": 238493}], "xrefs": [{"db": "dbVar", "id": "nssv581821", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv529216", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050588", "version": 5, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "uncertain significance", "date_last_evaluated": "2011-08-12"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "paternal", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000057017", "version": 1, "measures": [{"type": "copy number gain", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 3p26.3(chr3:2301168-2754945)x3"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 3}, {"type": "HGVS, genomic, top level", "value": "NC_000003.12:g.(?_2301168)_(2754945_?)dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000003.10:g.(?_2317852)_(2771629_?)dup", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000003.11:g.(?_2342852)_(2796629_?)dup", "integer_value": 37}], "cytogenic_locations": ["3p26.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "3", "accession": "NC_000003.12", "inner_start": 2301168, "inner_stop": 2754945, "display_start": 2301168, "display_stop": 2754945, "variant_length": 453778, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "inner_start": 2342852, "inner_stop": 2796629, "display_start": 2342852, "display_stop": 2796629, "variant_length": 453778, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "3", "accession": "NC_000003.10", "inner_start": 2317852, "inner_stop": 2771629, "display_start": 2317852, "display_stop": 2771629, "variant_length": 453778, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "meiotic recombination hotspot T"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC107522028"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "3", "accession": "NC_000003.12", "start": 2380639, "stop": 2386455, "display_start": 2380639, "display_stop": 2386455, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "107522028"}]}, {"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "contactin 4"}}], "symbols": [{"value": {"type": "Preferred", "value": "CNTN4"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "3", "accession": "NC_000003.12", "start": 2098866, "stop": 3057959, "display_start": 2098866, "display_stop": 3057959, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "start": 2140549, "stop": 3099644, "display_start": 2140549, "display_stop": 3099644, "strand": "+", "variant_length": 959096, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "152330"}, {"db": "OMIM", "id": "607280", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:2174"}]}], "xrefs": [{"db": "dbVar", "id": "nssv581100"}, {"db": "dbVar", "id": "nsv529241"}], "id": 71612}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 3p26.3(chr3:2301168-2754945)x3"}}], "id": 57017}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 138057}, "record_status": "current", "title": "GRCh38/hg38 3p26.3(chr3:2301168-2754945)x3 AND See cases", "clinvar_assertions": [{"id": 133882, "submission_id": {"local_key": "nsv529241:copy number gain:See cases:3:SCV000077913", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000077913", "version": 5, "type": "SCV", "date_updated": "2015-06-28", "date_created": "2013-08-03", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["uncertain significance"], "date_last_evaluated": "2011-08-12"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Kaminsky et al. (Genet Med. 2011)"}, "citations": [{"ids": [{"source": "PubMed", "value": "21844811"}], "type": "general"}]}], "observed_in": [{"sample": {"origin": "paternal", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv581100", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number gain", "attributes": [{"type": "AbsoluteCopyNumber", "value": "3"}, {"type": "HGVS", "value": "NC_000003.10:g.(?_2317852)_(2771629_?)dup"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "3", "accession": "NC_000003.10", "inner_start": 2317852, "inner_stop": 2771629}], "xrefs": [{"db": "dbVar", "id": "nssv581100", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv529241", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "21844811"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "21844811"}], "type": "general"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050265", "version": 4, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "uncertain significance", "date_last_evaluated": "2011-08-12"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "de novo", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000161085", "version": 1, "measures": [{"type": "copy number loss", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 11p15.5(chr11:196966-244236)x1"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 1}, {"type": "HGVS, genomic, top level", "value": "NC_000011.10:g.(?_196966)_(244236_?)del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000011.8:g.(?_186966)_(234236_?)del", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000011.9:g.(?_196966)_(244236_?)del", "integer_value": 37}], "cytogenic_locations": ["11p15.5"], "sequence_locations": [{"assembly": "GRCh38", "chr": "11", "accession": "NC_000011.10", "inner_start": 196966, "inner_stop": 244236, "display_start": 196966, "display_stop": 244236, "variant_length": 47271, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "11", "accession": "NC_000011.9", "inner_start": 196966, "inner_stop": 244236, "display_start": 196966, "display_stop": 244236, "variant_length": 47271, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "11", "accession": "NC_000011.8", "inner_start": 186966, "inner_stop": 234236, "display_start": 186966, "display_stop": 234236, "variant_length": 47271, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "Bet1 golgi vesicular membrane trafficking protein like"}}], "symbols": [{"value": {"type": "Preferred", "value": "BET1L"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "11", "accession": "NC_000011.10", "start": 202924, "stop": 207399, "display_start": 202924, "display_stop": 207399, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "11", "accession": "NC_000011.9", "start": 202923, "stop": 207421, "display_start": 202923, "display_stop": 207421, "strand": "-", "variant_length": 4499, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "51272"}, {"db": "OMIM", "id": "615417", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:19348"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "RIC8 guanine nucleotide exchange factor A"}}], "symbols": [{"value": {"type": "Preferred", "value": "RIC8A"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "11", "accession": "NC_000011.10", "start": 207708, "stop": 215113, "display_start": 207708, "display_stop": 215113, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "11", "accession": "NC_000011.9", "start": 208529, "stop": 215112, "display_start": 208529, "display_stop": 215112, "strand": "+", "variant_length": 6584, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "60626"}, {"db": "OMIM", "id": "609146", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:29550"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "microRNA 6743"}}], "symbols": [{"value": {"type": "Preferred", "value": "MIR6743"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "11", "accession": "NC_000011.10", "start": 209336, "stop": 209406, "display_start": 209336, "display_stop": 209406, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "102465445"}, {"db": "HGNC", "id": "HGNC:50008"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "outer dense fiber of sperm tails 3"}}], "symbols": [{"value": {"type": "Preferred", "value": "ODF3"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "11", "accession": "NC_000011.10", "start": 196761, "stop": 200258, "display_start": 196761, "display_stop": 200258, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "11", "accession": "NC_000011.9", "start": 196760, "stop": 200257, "display_start": 196760, "display_stop": 200257, "strand": "+", "variant_length": 3498, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "113746"}, {"db": "OMIM", "id": "608356", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:19905"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "proteasome 26S subunit, non-ATPase 13"}}], "symbols": [{"value": {"type": "Preferred", "value": "PSMD13"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "11", "accession": "NC_000011.10", "start": 236976, "stop": 252984, "display_start": 236976, "display_stop": 252984, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "11", "accession": "NC_000011.9", "start": 236807, "stop": 252983, "display_start": 236807, "display_stop": 252983, "strand": "+", "variant_length": 16177, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "5719"}, {"db": "OMIM", "id": "603481", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:9558"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "sirtuin 3"}}], "symbols": [{"value": {"type": "Preferred", "value": "SIRT3"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "11", "accession": "NC_000011.10", "start": 215030, "stop": 236931, "display_start": 215030, "display_stop": 236931, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "11", "accession": "NC_000011.9", "start": 215029, "stop": 236361, "display_start": 215029, "display_stop": 236361, "strand": "-", "variant_length": 21333, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "23410"}, {"db": "OMIM", "id": "604481", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:14931"}]}], "xrefs": [{"db": "dbVar", "id": "nssv580337"}, {"db": "dbVar", "id": "nsv1067808"}], "id": 170929}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 11p15.5(chr11:196966-244236)x1"}}], "id": 161085}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137734}, "record_status": "current", "title": "GRCh38/hg38 11p15.5(chr11:196966-244236)x1 AND See cases", "clinvar_assertions": [{"id": 133541, "submission_id": {"local_key": "nsv1067808:copy number loss:See cases:1:SCV000077572", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000077572", "version": 4, "type": "SCV", "date_updated": "2015-06-28", "date_created": "2013-08-03", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["uncertain significance"], "date_last_evaluated": "2011-08-12"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Kaminsky et al. (Genet Med. 2011)"}, "citations": [{"ids": [{"source": "PubMed", "value": "21844811"}], "type": "general"}]}], "observed_in": [{"sample": {"origin": "de novo", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormal facial shape"}}], "xrefs": [{"db": "HP", "id": "HP:0001999"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv580337", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number loss", "attributes": [{"type": "AbsoluteCopyNumber", "value": "1"}, {"type": "HGVS", "value": "NC_000011.8:g.(?_186966)_(234236_?)del"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "11", "accession": "NC_000011.8", "inner_start": 186966, "inner_stop": 234236}], "xrefs": [{"db": "dbVar", "id": "nssv580337", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv1067808", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "21844811"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "21844811"}], "type": "general"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050266", "version": 7, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "benign", "date_last_evaluated": "2013-08-05"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing", "clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 9}}]}], "measures": {"type": "Variant", "acc": "VCV000033504", "version": 2, "measures": [{"type": "copy number loss", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 1}, {"type": "HGVS, genomic, top level", "value": "NC_000007.14:g.(?_61006478)_(62410831_?)del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000001.9:g.(?_147134175)_(147966044_?)del", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000001.10:g.(?_148867551)_(149699420_?)del", "integer_value": 37}], "cytogenic_locations": ["1q21.2", "7q11.1-11.21"], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "inner_start": 61006478, "inner_stop": 62410831, "display_start": 61006478, "display_stop": 62410831, "variant_length": 1404354, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "inner_start": 148867551, "inner_stop": 149699420, "display_start": 148867551, "display_stop": 149699420, "variant_length": 831870, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "1", "accession": "NC_000001.9", "inner_start": 147134175, "inner_stop": 147966044, "display_start": 147134175, "display_stop": 147966044, "variant_length": 831870, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "tRNA-His (GTG) 2-1"}}], "symbols": [{"value": {"type": "Preferred", "value": "TRH-GTG2-1"}}], "sequence_locations": [{"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "start": 149155828, "stop": 149155899, "display_start": 149155828, "display_stop": 149155899, "strand": "-", "variant_length": 72, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "100189350"}, {"db": "HGNC", "id": "HGNC:34918"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3394957"}, {"db": "dbVar", "id": "nssv3395693"}, {"db": "dbVar", "id": "nssv3396118"}, {"db": "dbVar", "id": "nssv3396297"}, {"db": "dbVar", "id": "nssv575483"}, {"db": "dbVar", "id": "nssv575510"}, {"db": "dbVar", "id": "nssv575728"}, {"db": "dbVar", "id": "nssv576475"}, {"db": "dbVar", "id": "nssv576716"}, {"db": "dbVar", "id": "nsv491613"}], "id": 42169}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1"}}], "id": 33504}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137735}, "record_status": "current", "title": "GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1 AND See cases", "clinvar_assertions": [{"id": 312418, "submission_id": {"local_key": "nsv491613:copy number loss:See cases:1:SCV000172979", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000172979", "version": 3, "type": "SCV", "date_updated": "2015-07-13", "date_created": "2014-08-30", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2013-08-05"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575483", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575510", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575728", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576475", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Microcephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0000252"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576716", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3394957", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395693", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396118", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396297", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number loss", "attributes": [{"type": "AbsoluteCopyNumber", "value": "1"}, {"type": "HGVS", "value": "NC_000001.9:g.(?_147134175)_(147966044_?)del"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "1", "accession": "NC_000001.9", "inner_start": 147134175, "inner_stop": 147966044}], "xrefs": [{"db": "dbVar", "id": "nssv575483", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575510", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575728", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576475", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576716", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3394957", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395693", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396118", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396297", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv491613", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050281", "version": 7, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "benign", "date_last_evaluated": "2013-10-22"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 4}}]}], "measures": {"type": "Variant", "acc": "VCV000032448", "version": 2, "measures": [{"type": "copy number loss", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 2q37.3(chr2:241988449-242126245)x1"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 1}, {"type": "HGVS, genomic, top level", "value": "NC_000002.12:g.(?_241988449)_(242126245_?)del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.10:g.(?_242579273)_(242717069_?)del", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.11:g.(?_242930600)_(243059659_?)del", "integer_value": 37}], "cytogenic_locations": ["2q37.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "inner_start": 241988449, "inner_stop": 242126245, "display_start": 241988449, "display_stop": 242126245, "variant_length": 137797, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "inner_start": 242930600, "inner_stop": 243059659, "display_start": 242930600, "display_stop": 243059659, "strand": "+", "variant_length": 137797, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "2", "accession": "NC_000002.10", "inner_start": 242579273, "inner_stop": 242717069, "display_start": 242579273, "display_stop": 242717069, "variant_length": 137797, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "Sharpr-MPRA regulatory region 9157"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC122889016"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 242062018, "stop": 242062312, "display_start": 242062018, "display_stop": 242062312, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187523.1", "start": 106088, "stop": 106382, "display_start": 106088, "display_stop": 106382, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187647.1", "start": 105728, "stop": 106022, "display_start": 105728, "display_stop": 106022, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "122889016"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "long intergenic non-protein coding RNA 1237"}}], "symbols": [{"value": {"type": "Preferred", "value": "LINC01237"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 241881363, "stop": 242078722, "display_start": 241881363, "display_stop": 242078722, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187523.1", "start": 4619, "stop": 122792, "display_start": 4619, "display_stop": 122792, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187527.1", "start": 93461, "stop": 94735, "display_start": 93461, "display_stop": 94735, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187647.1", "start": 4619, "stop": 122432, "display_start": 4619, "display_stop": 122432, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "101927289"}, {"db": "HGNC", "id": "HGNC:49793"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "long intergenic non-protein coding RNA 1880"}}], "symbols": [{"value": {"type": "Preferred", "value": "LINC01880"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 242047684, "stop": 242084138, "display_start": 242047684, "display_stop": 242084138, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187523.1", "start": 91754, "stop": 128208, "display_start": 91754, "display_stop": 128208, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187647.1", "start": 91394, "stop": 127848, "display_start": 91394, "display_stop": 127848, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "105373979"}, {"db": "HGNC", "id": "HGNC:52699"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "long intergenic non-protein coding RNA 1881"}}], "symbols": [{"value": {"type": "Preferred", "value": "LINC01881"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 242088633, "stop": 242160503, "display_start": 242088633, "display_stop": 242160503, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187523.1", "start": 132703, "stop": 160302, "display_start": 132703, "display_stop": 160302, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187647.1", "start": 132343, "stop": 159942, "display_start": 132343, "display_stop": 159942, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "728323"}, {"db": "HGNC", "id": "HGNC:52700"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "uncharacterized FLJ38379"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC285097"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 242001209, "stop": 242006013, "display_start": 242001209, "display_stop": 242006013, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187523.1", "start": 39904, "stop": 44708, "display_start": 39904, "display_stop": 44708, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187647.1", "start": 39904, "stop": 44708, "display_start": 39904, "display_stop": 44708, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "285097"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3395864"}, {"db": "dbVar", "id": "nssv3396410"}, {"db": "dbVar", "id": "nssv575319"}, {"db": "dbVar", "id": "nssv575582"}, {"db": "dbVar", "id": "nsv491655"}], "id": 41113}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 2q37.3(chr2:241988449-242126245)x1"}}], "id": 32448}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137750}, "record_status": "current", "title": "GRCh38/hg38 2q37.3(chr2:241988449-242126245)x1 AND See cases", "clinvar_assertions": [{"id": 312456, "submission_id": {"local_key": "nsv491655:copy number loss:See cases:1:SCV000173017", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000173017", "version": 3, "type": "SCV", "date_updated": "2015-07-13", "date_created": "2014-08-30", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2013-10-22"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of head and neck"}}], "xrefs": [{"db": "HP", "id": "HP:0000152"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the mouth"}}], "xrefs": [{"db": "HP", "id": "HP:0000153"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575319", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Oral cleft"}}], "xrefs": [{"db": "HP", "id": "HP:0000202"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Micrognathia"}}], "xrefs": [{"db": "HP", "id": "HP:0000210"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Short phalanx of finger"}}], "xrefs": [{"db": "HP", "id": "HP:0009803"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575582", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395864", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396410", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number loss", "attributes": [{"type": "AbsoluteCopyNumber", "value": "1"}, {"type": "HGVS", "value": "NC_000002.10:g.(?_242579273)_(242717069_?)del"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "2", "accession": "NC_000002.10", "inner_start": 242579273, "inner_stop": 242717069}], "xrefs": [{"db": "dbVar", "id": "nssv575319", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575582", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395864", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396410", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv491655", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050305", "version": 6, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "benign", "date_last_evaluated": "2010-05-27"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 2}}]}], "measures": {"type": "Variant", "acc": "VCV000144120", "version": 2, "measures": [{"type": "copy number loss", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 Xq28(chrX:156001591-156022206)x1"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 1}, {"type": "HGVS, genomic, top level", "value": "NC_000023.11:g.(?_156001591)_(156022206_?)del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000023.9:g.(?_154884450)_(154905065_?)del", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000023.10:g.(?_155231256)_(155251871_?)del", "integer_value": 37}], "cytogenic_locations": ["Xq28"], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "inner_start": 156001591, "inner_stop": 156022206, "display_start": 156001591, "display_stop": 156022206, "variant_length": 20616, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "inner_start": 155231256, "inner_stop": 155251871, "display_start": 155231256, "display_stop": 155251871, "variant_length": 20616, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "X", "accession": "NC_000023.9", "inner_start": 154884450, "inner_stop": 154905065, "display_start": 154884450, "display_stop": 154905065, "variant_length": 20616, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "WASH and IL9R antisense RNA 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "WASIR1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 156014564, "stop": 156016830, "display_start": 156014564, "display_stop": 156016830, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "Y", "accession": "NC_000024.10", "start": 57201084, "stop": 57203350, "display_start": 57201084, "display_stop": 57203350, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 155244601, "stop": 155246575, "display_start": 155244601, "display_stop": 155246575, "strand": "-", "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "GRCh37", "chr": "Y", "accession": "NC_000024.9", "start": 59347607, "stop": 59349581, "display_start": 59347607, "display_stop": 59349581, "strand": "-", "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "100128260"}, {"db": "HGNC", "id": "HGNC:38513"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "interleukin 9 receptor"}}], "symbols": [{"value": {"type": "Preferred", "value": "IL9R"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 155997696, "stop": 156013020, "display_start": 155997696, "display_stop": 156013020, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "Y", "accession": "NC_000024.10", "start": 57184072, "stop": 57197869, "display_start": 57184072, "display_stop": 57197869, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "3581"}, {"db": "OMIM", "id": "300007", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:6030"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3396367"}, {"db": "dbVar", "id": "nssv575407"}, {"db": "dbVar", "id": "nsv491686"}], "id": 153871}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 Xq28(chrX:156001591-156022206)x1"}}], "id": 144120}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137774}, "record_status": "current", "title": "GRCh38/hg38 Xq28(chrX:156001591-156022206)x1 AND See cases", "clinvar_assertions": [{"id": 312485, "submission_id": {"local_key": "nsv491686:copy number loss:See cases:1:SCV000173046", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000173046", "version": 3, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2014-08-30", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2010-05-27"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the skeletal system"}}], "xrefs": [{"db": "HP", "id": "HP:0000924"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575407", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396367", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number loss", "attributes": [{"type": "AbsoluteCopyNumber", "value": "1"}, {"type": "HGVS", "value": "NC_000023.9:g.(?_154884450)_(154905065_?)del"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "X", "accession": "NC_000023.9", "inner_start": 154884450, "inner_stop": 154905065}], "xrefs": [{"db": "dbVar", "id": "nssv575407", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396367", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv491686", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050306", "version": 4, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "benign", "date_last_evaluated": "2011-08-12"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000161054", "version": 1, "measures": [{"type": "copy number loss", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 Xq28(chrX:156001591-156022206)x0"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 0}, {"type": "HGVS, genomic, top level", "value": "NC_000023.11:g.(?_156001591)_(156022206_?)del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000023.9:g.(?_154884450)_(154905065_?)del", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000023.10:g.(?_155231256)_(155251871_?)del", "integer_value": 37}], "cytogenic_locations": ["Xq28"], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "inner_start": 156001591, "inner_stop": 156022206, "display_start": 156001591, "display_stop": 156022206, "variant_length": 20616, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "inner_start": 155231256, "inner_stop": 155251871, "display_start": 155231256, "display_stop": 155251871, "variant_length": 20616, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "X", "accession": "NC_000023.9", "inner_start": 154884450, "inner_stop": 154905065, "display_start": 154884450, "display_stop": 154905065, "variant_length": 20616, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "WASH and IL9R antisense RNA 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "WASIR1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 156014564, "stop": 156016830, "display_start": 156014564, "display_stop": 156016830, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "Y", "accession": "NC_000024.10", "start": 57201084, "stop": 57203350, "display_start": 57201084, "display_stop": 57203350, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 155244601, "stop": 155246575, "display_start": 155244601, "display_stop": 155246575, "strand": "-", "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "GRCh37", "chr": "Y", "accession": "NC_000024.9", "start": 59347607, "stop": 59349581, "display_start": 59347607, "display_stop": 59349581, "strand": "-", "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "100128260"}, {"db": "HGNC", "id": "HGNC:38513"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "interleukin 9 receptor"}}], "symbols": [{"value": {"type": "Preferred", "value": "IL9R"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 155997696, "stop": 156013020, "display_start": 155997696, "display_stop": 156013020, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "Y", "accession": "NC_000024.10", "start": 57184072, "stop": 57197869, "display_start": 57184072, "display_stop": 57197869, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "3581"}, {"db": "OMIM", "id": "300007", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:6030"}]}], "xrefs": [{"db": "dbVar", "id": "nssv579401"}, {"db": "dbVar", "id": "nsv1067766"}], "id": 170898}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 Xq28(chrX:156001591-156022206)x0"}}], "id": 161054}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137775}, "record_status": "current", "title": "GRCh38/hg38 Xq28(chrX:156001591-156022206)x0 AND See cases", "clinvar_assertions": [{"id": 133582, "submission_id": {"local_key": "nsv1067766:copy number loss:See cases:0:SCV000077613", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000077613", "version": 4, "type": "SCV", "date_updated": "2015-06-28", "date_created": "2013-08-03", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["benign"], "date_last_evaluated": "2011-08-12"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Kaminsky et al. (Genet Med. 2011)"}, "citations": [{"ids": [{"source": "PubMed", "value": "21844811"}], "type": "general"}]}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Seizure"}}], "xrefs": [{"db": "HP", "id": "HP:0001250"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv579401", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number loss", "attributes": [{"type": "AbsoluteCopyNumber", "value": "0"}, {"type": "HGVS", "value": "NC_000023.9:g.(?_154884450)_(154905065_?)del"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "X", "accession": "NC_000023.9", "inner_start": 154884450, "inner_stop": 154905065}], "xrefs": [{"db": "dbVar", "id": "nssv579401", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv1067766", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "21844811"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "21844811"}], "type": "general"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050340", "version": 7, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "benign", "date_last_evaluated": "2013-08-02"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing", "clinical testing", "clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 11}}]}], "measures": {"type": "Variant", "acc": "VCV000032283", "version": 2, "measures": [{"type": "copy number loss", "names": [{"value": {"type": "Preferred", "value": "GRCh37/hg19 1q21.2(chr1:149041013-149699420)x1"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 1}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000001.9:g.(?_147307637)_(147966044_?)del", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000001.10:g.(?_149041013)_(149699420_?)del", "integer_value": 37}], "cytogenic_locations": ["1q21.2"], "sequence_locations": [{"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "inner_start": 149041013, "inner_stop": 149699420, "display_start": 149041013, "display_stop": 149699420, "variant_length": 658408, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "1", "accession": "NC_000001.9", "inner_start": 147307637, "inner_stop": 147966044, "display_start": 147307637, "display_stop": 147966044, "variant_length": 658408, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "family with sequence similarity 72 member C"}}], "symbols": [{"value": {"type": "Preferred", "value": "FAM72C"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "start": 143955287, "stop": 143973564, "display_start": 143955287, "display_stop": 143973564, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "start": 149449933, "stop": 149459448, "display_start": 149449933, "display_stop": 149459448, "strand": "-", "variant_length": 9516, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "554282"}, {"db": "OMIM", "id": "616853", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:30602"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "peptidylprolyl isomerase A like 4C"}}], "symbols": [{"value": {"type": "Preferred", "value": "PPIAL4C"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "start": 149583848, "stop": 149584607, "display_start": 149583848, "display_stop": 149584607, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "start": 149553002, "stop": 149553786, "display_start": 149553002, "display_stop": 149553786, "strand": "+", "variant_length": 785, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "653598"}, {"db": "HGNC", "id": "HGNC:33995"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "tRNA-His (GTG) 2-1"}}], "symbols": [{"value": {"type": "Preferred", "value": "TRH-GTG2-1"}}], "sequence_locations": [{"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "start": 149155828, "stop": 149155899, "display_start": 149155828, "display_stop": 149155899, "strand": "-", "variant_length": 72, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "100189350"}, {"db": "HGNC", "id": "HGNC:34918"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3395896"}, {"db": "dbVar", "id": "nssv3395897"}, {"db": "dbVar", "id": "nssv3396172"}, {"db": "dbVar", "id": "nssv3396285"}, {"db": "dbVar", "id": "nssv575615"}, {"db": "dbVar", "id": "nssv575616"}, {"db": "dbVar", "id": "nssv576428"}, {"db": "dbVar", "id": "nssv576517"}, {"db": "dbVar", "id": "nssv576768"}, {"db": "dbVar", "id": "nssv576870"}, {"db": "dbVar", "id": "nssv706525"}, {"db": "dbVar", "id": "nsv491745"}], "id": 40948}], "names": [{"value": {"type": "Preferred", "value": "GRCh37/hg19 1q21.2(chr1:149041013-149699420)x1"}}], "id": 32283}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137809}, "record_status": "current", "replaces": ["RCV000050341"], "title": "GRCh37/hg19 1q21.2(chr1:149041013-149699420)x1 AND See cases", "clinvar_assertions": [{"id": 312541, "submission_id": {"local_key": "nsv491745:copy number loss:See cases:1:SCV000173102", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000173102", "version": 3, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2014-08-30", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2013-08-02"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Incoordination"}}], "xrefs": [{"db": "HP", "id": "HP:0002311"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575615", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Short stature"}}], "xrefs": [{"db": "HP", "id": "HP:0004322"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575616", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576428", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Seizure"}}], "xrefs": [{"db": "HP", "id": "HP:0001275"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Intellectual disability"}}], "xrefs": [{"db": "HP", "id": "HP:0001249"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576517", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576768", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576870", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of head and neck"}}], "xrefs": [{"db": "HP", "id": "HP:0000152"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the mouth"}}], "xrefs": [{"db": "HP", "id": "HP:0000153"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv706525", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395896", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395897", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396172", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396285", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number loss", "attributes": [{"type": "AbsoluteCopyNumber", "value": "1"}, {"type": "HGVS", "value": "NC_000001.9:g.(?_147307637)_(147966044_?)del"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "1", "accession": "NC_000001.9", "inner_start": 147307637, "inner_stop": 147966044}], "xrefs": [{"db": "dbVar", "id": "nssv575615", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575616", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576428", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576517", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576768", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576870", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv706525", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395896", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395897", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396172", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396285", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv491745", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050363", "version": 7, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "benign", "date_last_evaluated": "2009-12-30"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000034753", "version": 2, "measures": [{"type": "copy number loss", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 5p15.33(chr5:629340-820360)x1"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 1}, {"type": "HGVS, genomic, top level", "value": "NC_000005.10:g.(?_629340)_(820360_?)del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000005.9:g.(?_629455)_(820475_?)del", "integer_value": 37}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000005.8:g.(?_682455)_(873475_?)del", "integer_value": 36}], "cytogenic_locations": ["5p15.33"], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "inner_start": 629340, "inner_stop": 820360, "display_start": 629340, "display_stop": 820360, "variant_length": 191021, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "inner_start": 629455, "inner_stop": 820475, "display_start": 629455, "display_stop": 820475, "variant_length": 191021, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "5", "accession": "NC_000005.8", "inner_start": 682455, "inner_stop": 873475, "display_start": 682455, "display_stop": 873475, "variant_length": 191021, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "centrosomal protein 72"}}], "symbols": [{"value": {"type": "Preferred", "value": "CEP72"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "start": 612340, "stop": 676616, "display_start": 612340, "display_stop": 676616, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "5", "accession": "NT_187550.1", "start": 6636, "stop": 14557, "display_start": 6636, "display_stop": 14557, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "start": 612404, "stop": 653667, "display_start": 612404, "display_stop": 653667, "strand": "+", "variant_length": 41264, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "55722"}, {"db": "OMIM", "id": "616475", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:25547"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "tubulin polymerization promoting protein"}}], "symbols": [{"value": {"type": "Preferred", "value": "TPPP"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "start": 659862, "stop": 700727, "display_start": 659862, "display_stop": 700727, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "start": 659976, "stop": 693509, "display_start": 659976, "display_stop": 693509, "strand": "-", "variant_length": 33534, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "11076"}, {"db": "OMIM", "id": "608773", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:24164"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "zinc finger DHHC-type containing 11"}}], "symbols": [{"value": {"type": "Preferred", "value": "ZDHHC11"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "start": 795605, "stop": 860563, "display_start": 795605, "display_stop": 860563, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "start": 795719, "stop": 851100, "display_start": 795719, "display_stop": 851100, "strand": "-", "variant_length": 55382, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "79844"}, {"db": "HGNC", "id": "HGNC:19158"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "zinc finger DHHC-type containing 11B"}}], "symbols": [{"value": {"type": "Preferred", "value": "ZDHHC11B"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "start": 710355, "stop": 784729, "display_start": 710355, "display_stop": 784729, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "start": 692723, "stop": 784841, "display_start": 692723, "display_stop": 784841, "strand": "-", "variant_length": 92119, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "653082"}, {"db": "HGNC", "id": "HGNC:32962"}]}], "xrefs": [{"db": "dbVar", "id": "nssv576789"}, {"db": "dbVar", "id": "nsv491918"}], "id": 43418}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 5p15.33(chr5:629340-820360)x1"}}], "id": 34753}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137832}, "record_status": "current", "title": "GRCh38/hg38 5p15.33(chr5:629340-820360)x1 AND See cases", "clinvar_assertions": [{"id": 312692, "submission_id": {"local_key": "nsv491918:copy number loss:See cases:1:SCV000173253", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000173253", "version": 3, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2014-08-30", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2009-12-30"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576789", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number loss", "attributes": [{"type": "AbsoluteCopyNumber", "value": "1"}, {"type": "HGVS", "value": "NC_000005.8:g.(?_682455)_(873475_?)del"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "5", "accession": "NC_000005.8", "inner_start": 682455, "inner_stop": 873475}], "xrefs": [{"db": "dbVar", "id": "nssv576789", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv491918", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050369", "version": 9, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "uncertain significance", "date_last_evaluated": "2010-08-19"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "ethnicity": "human", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing", "clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 2}}]}], "measures": {"type": "Variant", "acc": "VCV000033152", "version": 2, "measures": [{"type": "copy number loss", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 12q14.1(chr12:60698177-61527666)x1"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 1}, {"type": "HGVS, genomic, top level", "value": "NC_000012.12:g.(?_60698177)_(61527666_?)del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000012.10:g.(?_59378225)_(60207714_?)del", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000012.11:g.(?_61091958)_(61921447_?)del", "integer_value": 37}], "cytogenic_locations": ["12q14.1"], "sequence_locations": [{"assembly": "GRCh38", "chr": "12", "accession": "NC_000012.12", "inner_start": 60698177, "inner_stop": 61527666, "display_start": 60698177, "display_stop": 61527666, "variant_length": 829490, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "12", "accession": "NC_000012.11", "inner_start": 61091958, "inner_stop": 61921447, "display_start": 61091958, "display_stop": 61921447, "variant_length": 829490, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "12", "accession": "NC_000012.10", "inner_start": 59378225, "inner_stop": 60207714, "display_start": 59378225, "display_stop": 60207714, "variant_length": 829490, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "xrefs": [{"db": "dbVar", "id": "nssv576324"}, {"db": "dbVar", "id": "nssv576364"}, {"db": "dbVar", "id": "nsv492252"}], "id": 41817}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 12q14.1(chr12:60698177-61527666)x1"}}], "id": 33152}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137838}, "record_status": "current", "title": "GRCh38/hg38 12q14.1(chr12:60698177-61527666)x1 AND See cases", "clinvar_assertions": [{"id": 332047, "submission_id": {"local_key": "nsv492252:copy number loss:See cases:1:SCV000173655", "submitter": "ISCA site 1", "submitter_date": "2017-09-26"}, "clinvar_accession": {"acc": "SCV000173655", "version": 4, "type": "SCV", "date_updated": "2017-10-26", "date_created": "2014-09-01", "org_id": "505237", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["uncertain significance"], "date_last_evaluated": "2010-08-19"}], "observed_in": [{"sample": {"description": {"description": {"text": "Phenotype: fine and gross motor delay, speech delay, hypotonia, structural brain anomaly, macrocephaly, dysmorphic facial features, mid-facial crowding, low-set ears, cerebellar hypoplasia and parenchymal volume lossfine and gross motor delay, speech delay, hypotonia, structural brain anomaly, macrocephaly, dysmorphic facial features, mid-facial crowding, low-set ears, cerebellar hypoplasia and parenchymal volume loss", "type": "public"}}, "origin": "not provided", "ethnicity": "human", "species": {"value": "human", "taxonomy_id": 9606}, "age": [{"age_unit": "years", "value": 0, "type": "minimum"}, {"age_unit": "years", "value": 9, "type": "maximum"}], "affected_status": "yes", "gender": "male"}, "methods": ["clinical testing", "clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Macrocephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0000256"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Delayed speech and language development"}}], "xrefs": [{"db": "HP", "id": "HP:0000750"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Generalized hypotonia"}}], "xrefs": [{"db": "HP", "id": "HP:0001290"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormal facial shape"}}], "xrefs": [{"db": "HP", "id": "HP:0001999"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576324", "type": "dbVarVariantCallId"}]}, {"sample": {"description": {"description": {"text": "Phenotype: fine and gross motor delay, speech delay, hypotonia, structural brain anomaly, macrocephaly, dysmorphic facial features, mid-facial crowding, low-set ears, cerebellar hypoplasia and parenchymal volume lossfine and gross motor delay, speech delay, hypotonia, structural brain anomaly, macrocephaly, dysmorphic facial features, mid-facial crowding, low-set ears, cerebellar hypoplasia and parenchymal volume loss", "type": "public"}}, "origin": "not provided", "ethnicity": "human", "species": {"value": "human", "taxonomy_id": 9606}, "age": [{"age_unit": "years", "value": 0, "type": "minimum"}, {"age_unit": "years", "value": 9, "type": "maximum"}], "affected_status": "yes", "gender": "male"}, "methods": ["clinical testing", "clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Macrocephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0000256"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Delayed speech and language development"}}], "xrefs": [{"db": "HP", "id": "HP:0000750"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Generalized hypotonia"}}], "xrefs": [{"db": "HP", "id": "HP:0001290"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormal facial shape"}}], "xrefs": [{"db": "HP", "id": "HP:0001999"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576364", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number loss", "attributes": [{"type": "AbsoluteCopyNumber", "value": "1"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "12", "accession": "NC_000012.10", "inner_start": 59378225, "inner_stop": 60207714}], "xrefs": [{"db": "dbVar", "id": "nssv576324", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576364", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv492252", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}, {"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/]."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050463", "version": 8, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "benign", "date_last_evaluated": "2013-09-18"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "paternal", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 2}}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing", "clinical testing", "clinical testing", "clinical testing", "clinical testing", "clinical testing", "clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 61}}]}], "measures": {"type": "Variant", "acc": "VCV000031952", "version": 2, "measures": [{"type": "copy number loss", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 2q37.3(chr2:241988449-242065208)x1"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 1}, {"type": "HGVS, genomic, top level", "value": "NC_000002.12:g.(?_241988449)_(242065208_?)del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.10:g.(?_242579273)_(242656032_?)del", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.11:g.(?_242930600)_(243007359_?)del", "integer_value": 37}], "cytogenic_locations": ["2q37.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "inner_start": 241988449, "inner_stop": 242065208, "display_start": 241988449, "display_stop": 242065208, "variant_length": 76760, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "inner_start": 242930600, "inner_stop": 243007359, "display_start": 242930600, "display_stop": 243007359, "variant_length": 76760, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "2", "accession": "NC_000002.10", "inner_start": 242579273, "inner_stop": 242656032, "display_start": 242579273, "display_stop": 242656032, "variant_length": 76760, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "Sharpr-MPRA regulatory region 9157"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC122889016"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 242062018, "stop": 242062312, "display_start": 242062018, "display_stop": 242062312, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187523.1", "start": 106088, "stop": 106382, "display_start": 106088, "display_stop": 106382, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187647.1", "start": 105728, "stop": 106022, "display_start": 105728, "display_stop": 106022, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "122889016"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "long intergenic non-protein coding RNA 1880"}}], "symbols": [{"value": {"type": "Preferred", "value": "LINC01880"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 242047684, "stop": 242084138, "display_start": 242047684, "display_stop": 242084138, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187523.1", "start": 91754, "stop": 128208, "display_start": 91754, "display_stop": 128208, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187647.1", "start": 91394, "stop": 127848, "display_start": 91394, "display_stop": 127848, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "105373979"}, {"db": "HGNC", "id": "HGNC:52699"}]}, {"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "uncharacterized FLJ38379"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC285097"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 242001209, "stop": 242006013, "display_start": 242001209, "display_stop": 242006013, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187523.1", "start": 39904, "stop": 44708, "display_start": 39904, "display_stop": 44708, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187647.1", "start": 39904, "stop": 44708, "display_start": 39904, "display_stop": 44708, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "285097"}]}, {"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "long intergenic non-protein coding RNA 1237"}}], "symbols": [{"value": {"type": "Preferred", "value": "LINC01237"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 241881363, "stop": 242078722, "display_start": 241881363, "display_stop": 242078722, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187523.1", "start": 4619, "stop": 122792, "display_start": 4619, "display_stop": 122792, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187527.1", "start": 93461, "stop": 94735, "display_start": 93461, "display_stop": 94735, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "2", "accession": "NT_187647.1", "start": 4619, "stop": 122432, "display_start": 4619, "display_stop": 122432, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "101927289"}, {"db": "HGNC", "id": "HGNC:49793"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3395725"}, {"db": "dbVar", "id": "nssv3395747"}, {"db": "dbVar", "id": "nssv3395880"}, {"db": "dbVar", "id": "nssv3395887"}, {"db": "dbVar", "id": "nssv3395917"}, {"db": "dbVar", "id": "nssv3396129"}, {"db": "dbVar", "id": "nssv3396159"}, {"db": "dbVar", "id": "nssv3396164"}, {"db": "dbVar", "id": "nssv3396196"}, {"db": "dbVar", "id": "nssv3396232"}, {"db": "dbVar", "id": "nssv3396253"}, {"db": "dbVar", "id": "nssv3396255"}, {"db": "dbVar", "id": "nssv3396303"}, {"db": "dbVar", "id": "nssv3396350"}, {"db": "dbVar", "id": "nssv3396354"}, {"db": "dbVar", "id": "nssv3396356"}, {"db": "dbVar", "id": "nssv3396381"}, {"db": "dbVar", "id": "nssv3396387"}, {"db": "dbVar", "id": "nssv3396390"}, {"db": "dbVar", "id": "nssv3396665"}, {"db": "dbVar", "id": "nssv3396983"}, {"db": "dbVar", "id": "nssv3397084"}, {"db": "dbVar", "id": "nssv575250"}, {"db": "dbVar", "id": "nssv575261"}, {"db": "dbVar", "id": "nssv575266"}, {"db": "dbVar", "id": "nssv575291"}, {"db": "dbVar", "id": "nssv575299"}, {"db": "dbVar", "id": "nssv575301"}, {"db": "dbVar", "id": "nssv575335"}, {"db": "dbVar", "id": "nssv575339"}, {"db": "dbVar", "id": "nssv575408"}, {"db": "dbVar", "id": "nssv575479"}, {"db": "dbVar", "id": "nssv575481"}, {"db": "dbVar", "id": "nssv575495"}, {"db": "dbVar", "id": "nssv575517"}, {"db": "dbVar", "id": "nssv575527"}, {"db": "dbVar", "id": "nssv575601"}, {"db": "dbVar", "id": "nssv575607"}, {"db": "dbVar", "id": "nssv575636"}, {"db": "dbVar", "id": "nssv575733"}, {"db": "dbVar", "id": "nssv575779"}, {"db": "dbVar", "id": "nssv576491"}, {"db": "dbVar", "id": "nssv576509"}, {"db": "dbVar", "id": "nssv576534"}, {"db": "dbVar", "id": "nssv576587"}, {"db": "dbVar", "id": "nssv576616"}, {"db": "dbVar", "id": "nssv576623"}, {"db": "dbVar", "id": "nssv576669"}, {"db": "dbVar", "id": "nssv576675"}, {"db": "dbVar", "id": "nssv576677"}, {"db": "dbVar", "id": "nssv576757"}, {"db": "dbVar", "id": "nssv576788"}, {"db": "dbVar", "id": "nssv576805"}, {"db": "dbVar", "id": "nssv576836"}, {"db": "dbVar", "id": "nssv576878"}, {"db": "dbVar", "id": "nssv576889"}, {"db": "dbVar", "id": "nssv581818"}, {"db": "dbVar", "id": "nssv581820"}, {"db": "dbVar", "id": "nssv581942"}, {"db": "dbVar", "id": "nssv581956"}, {"db": "dbVar", "id": "nssv582002"}, {"db": "dbVar", "id": "nssv706543"}, {"db": "dbVar", "id": "nssv706550"}, {"db": "dbVar", "id": "nsv529146"}], "id": 40617}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 2q37.3(chr2:241988449-242065208)x1"}}], "id": 31952}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137932}, "record_status": "current", "replaces": ["RCV000050464", "RCV000050465", "RCV000050466", "RCV000050467", "RCV000050468", "RCV000050469", "RCV000050470", "RCV000050471", "RCV000050472"], "title": "GRCh38/hg38 2q37.3(chr2:241988449-242065208)x1 AND See cases", "clinvar_assertions": [{"id": 350851, "submission_id": {"local_key": "nsv529146:copy number loss:See cases:1:SCV000196250", "submitter": "ISCA site 17", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000196250", "version": 2, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2015-01-02", "org_id": "505238", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "replaced_list": [{"accession": "SCV000175198", "version": 1, "date_changed": "2015-01-01"}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2009-07-30"}], "observed_in": [{"sample": {"description": {"description": {"text": "q37.3", "type": "public"}}, "origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv582002", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number loss", "attributes": [{"type": "AbsoluteCopyNumber", "value": "1"}, {"type": "HGVS", "value": "NC_000002.10:g.(?_242579273)_(242656032_?)del"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "2", "accession": "NC_000002.10", "inner_start": 242579273, "inner_stop": 242656032}], "xrefs": [{"db": "dbVar", "id": "nssv582002", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv529146", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}, {"id": 350895, "submission_id": {"local_key": "nsv529146:copy number loss:See cases:1:SCV000196251", "submitter": "ISCA site 3", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000196251", "version": 2, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2015-01-02", "org_id": "505283", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"]}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing", "clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Thin upper lip vermilion"}}], "xrefs": [{"db": "HP", "id": "HP:0000219"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Sacral dimple"}}], "xrefs": [{"db": "HP", "id": "HP:0000960"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Clinodactyly of the 5th finger"}}], "xrefs": [{"db": "HP", "id": "HP:0004209"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Bulbous nose"}}], "xrefs": [{"db": "HP", "id": "HP:0000414"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Generalized hypotonia"}}], "xrefs": [{"db": "HP", "id": "HP:0001290"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395747", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number loss", "attributes": [{"type": "AbsoluteCopyNumber", "value": "1"}, {"type": "HGVS", "value": "NC_000002.10:g.(?_242579273)_(242656032_?)del"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "2", "accession": "NC_000002.10", "inner_start": 242579273, "inner_stop": 242656032}], "xrefs": [{"db": "dbVar", "id": "nssv3395747", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv529146", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}, {"id": 350933, "submission_id": {"local_key": "nsv529146:copy number loss:See cases:1:SCV000196252", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000196252", "version": 2, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2015-01-02", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2013-09-18"}], "observed_in": [{"sample": {"origin": "paternal", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Delayed speech and language development"}}], "xrefs": [{"db": "HP", "id": "HP:0002117"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Muscular hypotonia"}}], "xrefs": [{"db": "HP", "id": "HP:0001252"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575250", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575261", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575266", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Intellectual disability"}}], "xrefs": [{"db": "HP", "id": "HP:0001249"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Seizure"}}], "xrefs": [{"db": "HP", "id": "HP:0001275"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Intrauterine growth retardation"}}], "xrefs": [{"db": "HP", "id": "HP:0001511"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575291", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the skeletal system"}}], "xrefs": [{"db": "HP", "id": "HP:0000924"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575299", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575301", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the nervous system"}}], "xrefs": [{"db": "HP", "id": "HP:0000707"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575335", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575339", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the skeletal system"}}], "xrefs": [{"db": "HP", "id": "HP:0000924"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575408", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Cleft palate"}}], "xrefs": [{"db": "HP", "id": "HP:0000175"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Micrognathia"}}], "xrefs": [{"db": "HP", "id": "HP:0000210"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575479", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Gonadal dysgenesis"}}], "xrefs": [{"db": "HP", "id": "HP:0000133"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575481", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575495", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of head and neck"}}], "xrefs": [{"db": "HP", "id": "HP:0000152"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the mouth"}}], "xrefs": [{"db": "HP", "id": "HP:0000153"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575517", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575527", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575601", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575607", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Intellectual disability"}}], "xrefs": [{"db": "HP", "id": "HP:0001249"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Encephalopathy"}}], "xrefs": [{"db": "HP", "id": "HP:0001298"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575636", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of head and neck"}}], "xrefs": [{"db": "HP", "id": "HP:0000152"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormal facial shape"}}], "xrefs": [{"db": "HP", "id": "HP:0002260"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575733", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the nervous system"}}], "xrefs": [{"db": "HP", "id": "HP:0000707"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575779", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Poor coordination"}}], "xrefs": [{"db": "HP", "id": "HP:0002370"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hemihypertrophy"}}], "xrefs": [{"db": "HP", "id": "HP:0001528"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576491", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576509", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Muscular hypotonia"}}], "xrefs": [{"db": "HP", "id": "HP:0001252"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576534", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Microcephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0000252"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576587", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Microcephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0000252"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576616", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576623", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hydrops fetalis"}}], "xrefs": [{"db": "HP", "id": "HP:0001789"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576669", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576675", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576677", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576757", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576788", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Microcephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0000252"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Muscular hypotonia"}}], "xrefs": [{"db": "HP", "id": "HP:0001252"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Failure to thrive"}}], "xrefs": [{"db": "HP", "id": "HP:0001508"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576805", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576836", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576878", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576889", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Behavioral abnormality"}}], "xrefs": [{"db": "HP", "id": "HP:0000708"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Blepharophimosis"}}], "xrefs": [{"db": "HP", "id": "HP:0000581"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv706543", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv706550", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395725", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395880", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395887", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395917", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396129", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "paternal", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396159", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396164", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396196", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396232", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396253", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396255", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396303", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396350", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396354", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396356", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396381", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396387", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396390", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396665", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396983", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3397084", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number loss", "attributes": [{"type": "AbsoluteCopyNumber", "value": "1"}, {"type": "HGVS", "value": "NC_000002.10:g.(?_242579273)_(242656032_?)del"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "2", "accession": "NC_000002.10", "inner_start": 242579273, "inner_stop": 242656032}], "xrefs": [{"db": "dbVar", "id": "nssv575250", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575261", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575266", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575291", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575299", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575301", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575335", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575339", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575408", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575479", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575481", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575495", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575517", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575527", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575601", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575607", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575636", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575733", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575779", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576491", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576509", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576534", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576587", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576616", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576623", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576669", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576675", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576677", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576757", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576788", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576805", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576836", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576878", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576889", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv706543", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv706550", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395725", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395880", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395887", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395917", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396129", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396159", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396164", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396196", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396232", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396253", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396255", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396303", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396350", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396354", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396356", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396381", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396387", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396390", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396665", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396983", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3397084", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv529146", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}, {"id": 350975, "submission_id": {"local_key": "nsv529146:copy number loss:See cases:1:SCV000196253", "submitter": "ISCA site 8", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000196253", "version": 2, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2015-01-02", "org_id": "505285", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2010-10-20"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Muscular hypotonia"}}], "xrefs": [{"db": "HP", "id": "HP:0001252"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv581818", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Intellectual disability"}}], "xrefs": [{"db": "HP", "id": "HP:0001249"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv581820", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the diaphragm"}}], "xrefs": [{"db": "HP", "id": "HP:0000775"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv581942", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv581956", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number loss", "attributes": [{"type": "AbsoluteCopyNumber", "value": "1"}, {"type": "HGVS", "value": "NC_000002.10:g.(?_242579273)_(242656032_?)del"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "2", "accession": "NC_000002.10", "inner_start": 242579273, "inner_stop": 242656032}], "xrefs": [{"db": "dbVar", "id": "nssv581818", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv581820", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv581942", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv581956", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv529146", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050482", "version": 8, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-08-03"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "benign", "date_last_evaluated": "2013-08-26"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing", "clinical testing", "clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 24}}]}], "measures": {"type": "Variant", "acc": "VCV000032021", "version": 2, "measures": [{"type": "copy number loss", "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 6p25.3(chr6:259528-307998)x1"}}], "attributes": [{"type": "AbsoluteCopyNumber", "integer_value": 1}, {"type": "HGVS, genomic, top level", "value": "NC_000006.12:g.(?_259528)_(307998_?)del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000006.10:g.(?_204528)_(252998_?)del", "integer_value": 36}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000006.11:g.(?_259528)_(307998_?)del", "integer_value": 37}], "cytogenic_locations": ["6p25.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "inner_start": 259528, "inner_stop": 307998, "display_start": 259528, "display_stop": 307998, "variant_length": 48471, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "inner_start": 259528, "inner_stop": 307998, "display_start": 259528, "display_stop": 307998, "variant_length": 48471, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}, {"assembly": "NCBI36", "chr": "6", "accession": "NC_000006.10", "inner_start": 204528, "inner_stop": 252998, "display_start": 204528, "display_stop": 252998, "variant_length": 48471, "assembly_accession_version": "GCF_000001405.12", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "dual specificity phosphatase 22"}}], "symbols": [{"value": {"type": "Preferred", "value": "DUSP22"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "start": 292487, "stop": 351355, "display_start": 292487, "display_stop": 351355, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "start": 292100, "stop": 351354, "display_start": 292100, "display_stop": 351354, "strand": "+", "variant_length": 59255, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "56940"}, {"db": "OMIM", "id": "616778", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:16077"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3395449"}, {"db": "dbVar", "id": "nssv3395695"}, {"db": "dbVar", "id": "nssv3395707"}, {"db": "dbVar", "id": "nssv3395851"}, {"db": "dbVar", "id": "nssv3395909"}, {"db": "dbVar", "id": "nssv3395936"}, {"db": "dbVar", "id": "nssv3395963"}, {"db": "dbVar", "id": "nssv3396001"}, {"db": "dbVar", "id": "nssv3396152"}, {"db": "dbVar", "id": "nssv3396325"}, {"db": "dbVar", "id": "nssv575345"}, {"db": "dbVar", "id": "nssv575347"}, {"db": "dbVar", "id": "nssv575363"}, {"db": "dbVar", "id": "nssv575523"}, {"db": "dbVar", "id": "nssv575569"}, {"db": "dbVar", "id": "nssv575629"}, {"db": "dbVar", "id": "nssv575755"}, {"db": "dbVar", "id": "nssv576414"}, {"db": "dbVar", "id": "nssv576422"}, {"db": "dbVar", "id": "nssv576507"}, {"db": "dbVar", "id": "nssv576783"}, {"db": "dbVar", "id": "nssv706513"}, {"db": "dbVar", "id": "nssv706578"}, {"db": "dbVar", "id": "nssv706609"}, {"db": "dbVar", "id": "nsv529150"}], "id": 40686}], "names": [{"value": {"type": "Preferred", "value": "GRCh38/hg38 6p25.3(chr6:259528-307998)x1"}}], "id": 32021}, "traits": {"type": "PhenotypeInstruction", "traits": [{"type": "PhenotypeInstruction", "names": [{"value": {"type": "Preferred", "value": "See cases"}}]}], "id": 16994}, "date_created": "2013-08-03", "date_last_updated": "2022-04-23", "id": 137951}, "record_status": "current", "replaces": ["RCV000050483"], "title": "GRCh38/hg38 6p25.3(chr6:259528-307998)x1 AND See cases", "clinvar_assertions": [{"id": 332168, "submission_id": {"local_key": "nsv529150:copy number loss:See cases:1:SCV000175204", "submitter": "ISCA site 4", "submitter_date": "2014-06-21"}, "clinvar_accession": {"acc": "SCV000175204", "version": 3, "type": "SCV", "date_updated": "2015-07-10", "date_created": "2014-09-01", "org_id": "505240", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "additional_submitters": [{"type": "secondary", "submitter_name": "International Standards For Cytogenomic Arrays Consortium (ISCA)", "org_id": 500029}], "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["benign"], "date_last_evaluated": "2013-08-26"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575345", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575347", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575363", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Short stature"}}], "xrefs": [{"db": "HP", "id": "HP:0004322"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575523", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575569", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575629", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv575755", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Ichthyosis"}}], "xrefs": [{"db": "HP", "id": "HP:0000955"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576414", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576422", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Seizure"}}], "xrefs": [{"db": "HP", "id": "HP:0001275"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576507", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv576783", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv706513", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv706578", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Seizure"}}], "xrefs": [{"db": "HP", "id": "HP:0001250"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the skeletal system"}}], "xrefs": [{"db": "HP", "id": "HP:0000924"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autism"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv706609", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395449", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395695", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395707", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395851", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395909", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395936", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3395963", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396001", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396152", "type": "dbVarVariantCallId"}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental delay AND/OR other significant developmental or morphological phenotypes"}}]}]}, "xrefs": [{"db": "dbVar", "id": "nssv3396325", "type": "dbVarVariantCallId"}]}], "measures": {"type": "Variant", "measures": [{"type": "copy number loss", "attributes": [{"type": "AbsoluteCopyNumber", "value": "1"}, {"type": "HGVS", "value": "NC_000006.10:g.(?_204528)_(252998_?)del"}], "sequence_locations": [{"assembly": "NCBI36", "chr": "6", "accession": "NC_000006.10", "inner_start": 204528, "inner_stop": 252998}], "xrefs": [{"db": "dbVar", "id": "nssv575345", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575347", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575363", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575523", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575569", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575629", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv575755", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576414", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576422", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576507", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv576783", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv706513", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv706578", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv706609", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395449", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395695", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395707", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395851", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395909", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395936", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3395963", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396001", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396152", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nssv3396325", "type": "dbVarVariantCallId"}, {"db": "dbVar", "id": "nsv529150", "type": "dbVarVariantRegionId"}]}]}, "traits": {"type": "PhenotypeInstruction", "traits": [{"names": [{"value": {"type": "Preferred", "value": "See cases"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}, {"ids": [{"source": "PubMed", "value": "20466091"}], "type": "Position Statement", "abbrev": "ISCA, 2010"}], "study_description": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.", "comments": [{"text": "Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter."}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000000042", "version": 4, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2010-09-10"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 3 affected members of a family from the United Arab Emirates with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC; 612674), Fiskerstrand et al. (2010) identified a homozygous 14-kb deletion and 2-bp insertion (del14007insGG) in the ABHD12 gene encompassing the promoter region and exon 1 of the gene. Two patients were in their twenties, and 1 was age 6 years. Common features included absent tendon reflexes, hearing loss, ataxia, cataracts; hearing loss occurred in childhood in all 3. Only the older 2 patients had retinitis pigmentosa."}, "citations": [{"ids": [{"source": "PubMed", "value": "20797687"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000000025", "version": 1, "measures": [{"type": "indel", "names": [{"value": {"type": "Preferred", "value": "NM_015600.4(ABHD12):c.-6898_191+7002delinsCC"}}], "attributes": [{"type": "HGVS, genomic, top level", "value": "NC_000020.11:g.25383511_25397600delinsG", "integer_value": 38}, {"type": "HGVS, genomic, top level", "value": "NC_000020.11:g.25383511_25397601delinsGG", "integer_value": 38}, {"type": "HGVS, genomic, top level, other", "value": "NC_000020.10:g.25364147_25378237del14091insGG", "integer_value": 37}, {"type": "HGVS, genomic, top level, other", "value": "NC_000020.11:g.25383511_25397601del14091insGG", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000020.10:g.25364147_25378237delinsGG", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_015600.4:c.-6898_191+7002delinsCC"}, {"type": "nucleotide change", "value": "14-KB DEL"}], "cytogenic_locations": ["20p11.21"], "sequence_locations": [{"assembly": "GRCh38", "chr": "20", "accession": "NC_000020.11", "start": 25383511, "stop": 25397601, "display_start": 25383511, "display_stop": 25397601, "variant_length": 14091, "alternate_allele": "GG", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "20", "accession": "NC_000020.10", "start": 25364147, "stop": 25378237, "display_start": 25364147, "display_stop": 25378237, "variant_length": 14091, "alternate_allele": "GG", "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "abhydrolase domain containing 12, lysophospholipase"}}], "symbols": [{"value": {"type": "Preferred", "value": "ABHD12"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "20", "accession": "NC_000020.11", "start": 25294743, "stop": 25390835, "display_start": 25294743, "display_stop": 25390835, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "20", "accession": "NC_000020.10", "start": 25275378, "stop": 25371617, "display_start": 25275378, "display_stop": 25371617, "strand": "-", "variant_length": 96240, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "26090"}, {"db": "OMIM", "id": "613599", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:15868"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3761628"}, {"db": "dbVar", "id": "nsv1067853"}, {"db": "OMIM", "id": "613599.0002", "type": "Allelic variant"}], "comments": [{"text": "The location of this deletion was determined from analysis of Fig. S4C in PubMed 20797687.", "type": "public", "datasource": "NCBI curation"}, {"text": "Deletion of exon 1 plus flanking sequences from ABHD12 (NG_028119.1), with insertion of GG", "type": "public", "datasource": "NCBI curation"}], "id": 15064}], "names": [{"value": {"type": "Preferred", "value": "NM_015600.4(ABHD12):c.-6898_191+7002delinsCC"}}], "id": 25}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "PHARC syndrome"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0012984"}]}, {"value": {"type": "Alternate", "value": "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract"}, "xrefs": [{"db": "Genetic Alliance", "id": "Polyneuropathy%2C+hearing+loss%2C+ataxia%2C+retinitis+pigmentosa%2C+and+cataract/9132"}]}, {"value": {"type": "Alternate", "value": "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"}, "xrefs": [{"db": "Orphanet", "id": "171848"}]}], "symbols": [{"value": {"type": "Alternate", "value": "PHARC"}, "xrefs": [{"db": "OMIM", "id": "612674", "type": "MIM"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0012984"}, {"db": "MedGen", "id": "C2675204"}, {"db": "Orphanet", "id": "171848"}, {"db": "OMIM", "id": "612674", "type": "MIM"}]}], "id": 17}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 57545}, "record_status": "current", "title": "NM_015600.4(ABHD12):c.-6898_191+7002delinsCC AND PHARC syndrome", "clinvar_assertions": [{"id": 20185, "submission_id": {"local_key": "613599.0002_POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT", "submitter": "OMIM", "title": "ABHD12, 14-KB DEL_POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT", "submitter_date": "2018-10-03"}, "clinvar_accession": {"acc": "SCV000020185", "version": 3, "type": "SCV", "date_updated": "2018-10-10", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2010-09-10"}], "external_ids": [{"db": "OMIM", "id": "613599.0002", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 3 affected members of a family from the United Arab Emirates with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC; 612674), Fiskerstrand et al. (2010) identified a homozygous 14-kb deletion and 2-bp insertion (del14007insGG) in the ABHD12 gene encompassing the promoter region and exon 1 of the gene. Two patients were in their twenties, and 1 was age 6 years. Common features included absent tendon reflexes, hearing loss, ataxia, cataracts; hearing loss occurred in childhood in all 3. Only the older 2 patients had retinitis pigmentosa."}, "citations": [{"ids": [{"source": "PubMed", "value": "20797687"}]}], "xrefs": [{"db": "OMIM", "id": "612674", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "ABHD12, 14-KB DEL"}}], "attributes": [{"type": "NonHGVS", "value": "14-KB DEL"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "ABHD12"}}]}], "xrefs": [{"db": "OMIM", "id": "613599.0002", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000000188", "version": 5, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "other", "date_last_evaluated": "1990-11-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a patient of Swedish/Danish extraction with gyrate atrophy of the choroid and retina (GACR; 258870), McClatchey et al. (1989, 1990) found deletion of 9 bp in the 3-prime splice site of IVS4, resulting in deletion of exon 5. The mutation was present in compound heterozygous state."}, "citations": [{"ids": [{"source": "PubMed", "value": "2220818"}], "type": "general"}, {"type": "general", "citation_text": "McClatchey, A. I., Kaufmann, D. L., Tobin, A. J., Shih, V. E., Berson, E. L., Gusella, J. F., Ramesh, V. Deletion in the OAT gene causes RNA splicing defect and results in gyrate atrophy. (Abstract) Am. J. Hum. Genet. 45: A206-only, 1989."}]}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided", "number_tested": 1}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000000165", "version": 1, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "NM_000274.4(OAT):c.425-4_429del"}}], "canonical_spdi": "NC_000010.11:124408632:CACTCCTATCA:CA", "attributes": [{"type": "FunctionalConsequence", "value": "exon loss", "xrefs": [{"db": "Variation Ontology", "id": "0381"}]}, {"type": "HGVS, coding, LRG", "value": "LRG_685t1:c.425_520del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001322974.2:c.-290-4_-286del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001171814.2:c.11-4_15del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001322971.2:c.200-3078_200-3070del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_000274.4:c.425-4_429del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001322965.2:c.425-4_429del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001322966.2:c.425-4_429del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001322967.2:c.425-4_429del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001322968.2:c.425-4_429del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001322969.2:c.425-4_429del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001322970.2:c.425-4_429del"}, {"type": "HGVS, genomic, LRG", "value": "LRG_685:g.15310_15318del"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_008861.1:g.15310_15318del"}, {"type": "HGVS, genomic, top level", "value": "NC_000010.11:g.124408635_124408643del", "integer_value": 38}, {"type": "HGVS, genomic, top level, other", "value": "NC_000010.11:g.124408634_124408642del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000010.10:g.126097204_126097212del", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_000274.3:c.425_520del"}, {"type": "HGVS, protein"}, {"type": "HGVS, protein"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000265.1:p.Gly142_Ala173del"}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001322971.2:c.200-3078_200-3070del"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_000274.4:c.425-4_429del"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_001171814.2:c.11-4_15del"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_001322965.2:c.425-4_429del"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_001322966.2:c.425-4_429del"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_001322967.2:c.425-4_429del"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_001322968.2:c.425-4_429del"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_001322969.2:c.425-4_429del"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_001322970.2:c.425-4_429del"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_001322974.2:c.-290-4_-286del"}]}, {"type": "nucleotide change", "value": "EX5DEL"}], "cytogenic_locations": ["10q26.13"], "sequence_locations": [{"assembly": "GRCh38", "chr": "10", "accession": "NC_000010.11", "start": 124408633, "stop": 124408641, "display_start": 124408633, "display_stop": 124408641, "variant_length": 9, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 124408632, "reference_allele_vcf": "CCACTCCTAT", "alternate_allele_vcf": "C"}, {"assembly": "GRCh37", "chr": "10", "accession": "NC_000010.10", "start": 126097202, "stop": 126097210, "display_start": 126097202, "display_stop": 126097210, "variant_length": 9, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 126097201, "reference_allele_vcf": "CCACTCCTAT", "alternate_allele_vcf": "C"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "ornithine aminotransferase"}}], "symbols": [{"value": {"type": "Preferred", "value": "OAT"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "10", "accession": "NC_000010.11", "start": 124397303, "stop": 124418923, "display_start": 124397303, "display_stop": 124418923, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "10", "accession": "NC_000010.10", "start": 126085871, "stop": 126107544, "display_start": 126085871, "display_stop": 126107544, "strand": "-", "variant_length": 21674, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "4942"}, {"db": "OMIM", "id": "613349", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:8091"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "2220818"}], "type": "general"}], "xrefs": [{"db": "OMIM", "id": "613349.0022", "type": "Allelic variant"}, {"db": "dbSNP", "id": "386833609", "type": "rs"}], "comments": [{"text": "NCBI staff reviewed the sequence information reported in PubMed 2220818 Fig. 2 to determine the location of this allele on the current reference sequence.", "type": "public", "datasource": "NCBI curation"}, {"text": "9-bp deletion spanning 3'-acceptor of exon 4 causes skipping of exon 4 in NM_000274.3.", "type": "LocationOnGenomeAndProductNotAligned", "datasource": "NCBI curation"}], "id": 15204}], "names": [{"value": {"type": "Preferred", "value": "NM_000274.4(OAT):c.425-4_429del"}}], "xrefs": [{"db": "ClinGen", "id": "CA113968"}], "id": 165}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Ornithine aminotransferase deficiency"}, "xrefs": [{"db": "Genetic Alliance", "id": "Ornithine+aminotransferase+deficiency/5411"}, {"db": "MONDO", "id": "MONDO:0009796"}, {"db": "SNOMED CT", "id": "276426004"}]}, {"value": {"type": "Alternate", "value": "OAT deficiency"}}, {"value": {"type": "Alternate", "value": "Ornithine ketoacid aminotransferase deficiency"}}, {"value": {"type": "Alternate", "value": "Gyrate atrophy"}}, {"value": {"type": "Alternate", "value": "OKT deficiency"}}, {"value": {"type": "Alternate", "value": "Hyperornithinemia with gyrate atrophy of choroid and retina"}}, {"value": {"type": "Alternate", "value": "Girate atrophy of the retina"}}, {"value": {"type": "Alternate", "value": "Gyrate atrophy of choroid and retina"}}], "symbols": [{"value": {"type": "Preferred", "value": "GACR"}, "xrefs": [{"db": "OMIM", "id": "258870", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "HOGA"}, "xrefs": [{"db": "OMIM", "id": "258870", "type": "MIM"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0009796"}, {"db": "MedGen", "id": "C0018425"}, {"db": "Orphanet", "id": "414"}, {"db": "OMIM", "id": "258870", "type": "MIM"}]}], "id": 59}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 57691}, "record_status": "current", "replaces": ["RCV000049536"], "title": "NM_000274.4(OAT):c.425-4_429del AND Ornithine aminotransferase deficiency", "clinvar_assertions": [{"id": 20331, "submission_id": {"local_key": "613349.0022_GYRATE ATROPHY OF CHOROID AND RETINA", "submitter": "OMIM", "title": "OAT, EX5DEL_GYRATE ATROPHY OF CHOROID AND RETINA", "submitter_date": "2018-02-01"}, "clinvar_accession": {"acc": "SCV000020331", "version": 2, "type": "SCV", "date_updated": "2018-02-04", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "1990-11-01"}], "external_ids": [{"db": "OMIM", "id": "613349.0022", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a patient of Swedish/Danish extraction with gyrate atrophy of the choroid and retina (GACR; 258870), McClatchey et al. (1989, 1990) found deletion of 9 bp in the 3-prime splice site of IVS4, resulting in deletion of exon 5. The mutation was present in compound heterozygous state."}, "citations": [{"citation_text": "McClatchey, A. I., Kaufmann, D. L., Tobin, A. J., Shih, V. E., Berson, E. L., Gusella, J. F., Ramesh, V. Deletion in the OAT gene causes RNA splicing defect and results in gyrate atrophy. (Abstract) Am. J. Hum. Genet. 45: A206-only, 1989."}, {"ids": [{"source": "PubMed", "value": "2220818"}]}], "xrefs": [{"db": "OMIM", "id": "258870", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "OAT, EX5DEL"}}], "attributes": [{"type": "NonHGVS", "value": "EX5DEL"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "OAT"}}]}], "xrefs": [{"db": "OMIM", "id": "613349.0022", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "GYRATE ATROPHY OF CHOROID AND RETINA"}}]}]}}, {"id": 131331, "submission_id": {"local_key": "FINDIS870", "submitter": "Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)", "submitter_date": "2013-05-19"}, "clinvar_accession": {"acc": "SCV000081973", "version": 1, "type": "SCV", "date_updated": "2013-07-24", "date_created": "2013-07-24", "org_id": "500116", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["other"], "comments": [{"text": "Converted during submission to Likely pathogenic.", "type": "ConvertedByNCBI"}]}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human"}, "affected_status": "not provided", "number_tested": 1}, "methods": ["not provided"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_000274.3:c.425-5_428del"}], "citations": [{"ids": [{"source": "PubMed", "value": "2220818"}], "type": "general"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "Ornithine aminotransferase deficiency"}}], "xrefs": [{"db": "OMIM", "id": "258870", "type": "MIM"}]}]}, "comments": [{"text": "FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference", "type": "public"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000000713", "version": 3, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "1998-04-24"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Berg et al. (1994) detected a heterozygous T-to-C transition in the putative promoter region of the PROC gene in a patient with type I protein C deficiency and a history of recurrent venous thrombosis (THPH3; 176860). The mutation occurred 14 bp upstream of the transcription initiation site and within a sequence strongly homologous to the consensus binding site for a liver-enriched transcription factor, hepatocyte nuclear factor-1 (HNF1; 142410). Transfection experiments demonstrated that a CAT reporter gene construct containing 626 bp of the putative PROC gene promoter was capable of driving CAT expression in hepatoma cells. Levels of CAT expression from constructs bearing the mutation were found to be drastically reduced by comparison with the wildtype, consistent with the reduced plasma protein C antigen levels observed in the patient. The findings indicated a vital role for HNF1 in the expression of the PROC gene in vivo."}, "citations": [{"ids": [{"source": "PubMed", "value": "7881411"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Spek et al. (1998) found that the region around the -14T-C mutation corresponds to a binding site for the transcription factor HNF6 (ONECUT1; 604164), and that this site completely overlaps an HNF1-binding site. In vitro studies showed that HNF6 and HNF1 bound in a mutually exclusive manner. In transient transfection experiments, both HNF6 and HNF1 transactivated the wildtype PROC promoter, and the mutant promoter abolished transactivation by HNF6. Deletion studies showed that HNF1 activity was regulated by sequences either upstream or downstream of the HNF6/HNF1 site. Spek et al. (1998) concluded that HNF6 is the major determinant of protein C gene activity."}, "citations": [{"ids": [{"source": "PubMed", "value": "9553065"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000000678", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NG_016323.1:g.5006T>C"}}], "canonical_spdi": "NC_000002.12:127418424:T:C", "attributes": [{"type": "HGVS, genomic, LRG", "value": "LRG_599:g.5006T>C"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_016323.1:g.5006T>C"}, {"type": "HGVS, genomic, top level", "value": "NC_000002.12:g.127418425T>C", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.11:g.128176001T>C", "integer_value": 37}, {"type": "HGVS, protein"}, {"type": "nucleotide change", "value": "-14T-C"}], "cytogenic_locations": ["2q14.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 127418425, "stop": 127418425, "display_start": 127418425, "display_stop": 127418425, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 127418425, "reference_allele_vcf": "T", "alternate_allele_vcf": "C"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 128176001, "stop": 128176001, "display_start": 128176001, "display_stop": 128176001, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 128176001, "reference_allele_vcf": "T", "alternate_allele_vcf": "C"}], "measure_relationship": [{"type": "near gene, upstream", "names": [{"value": {"type": "Preferred", "value": "protein C, inactivator of coagulation factors Va and VIIIa"}}], "symbols": [{"value": {"type": "Preferred", "value": "PROC"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 127418427, "stop": 127429242, "display_start": 127418427, "display_stop": 127429242, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 128175995, "stop": 128186821, "display_start": 128175995, "display_stop": 128186821, "strand": "+", "variant_length": 10827, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "5624"}, {"db": "OMIM", "id": "612283", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:9451"}]}], "xrefs": [{"db": "OMIM", "id": "612283.0023", "type": "Allelic variant"}], "comments": [{"text": "NCBI staff provided an HGVS expression for allelic variant 612283.0023 from the sequence in Figure 2 of the paper by Berg et al., 1994 (PubMed 7881411).", "type": "public", "datasource": "NCBI curation"}], "id": 15717}], "names": [{"value": {"type": "Preferred", "value": "NG_016323.1:g.5006T>C"}}], "id": 678}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Thrombophilia due to protein C deficiency, autosomal dominant"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0008316"}]}, {"value": {"type": "Alternate", "value": "PROC DEFICIENCY, AUTOSOMAL DOMINANT"}, "xrefs": [{"db": "OMIM", "id": "176860", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT"}, "xrefs": [{"db": "OMIM", "id": "176860", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant"}, "xrefs": [{"db": "Genetic Alliance", "id": "Thrombophilia%2C+hereditary%2C+due+to+protein+c+deficiency%2C+autosomal+dominant/9396"}]}], "symbols": [{"value": {"type": "Alternate", "value": "THPH3"}, "xrefs": [{"db": "OMIM", "id": "176860", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "PCD"}, "xrefs": [{"db": "Genetic Testing Registry (GTR)", "id": "GTR000503185"}]}], "attributes": [{"value": {"type": "disease mechanism", "value": "loss of function"}, "xrefs": [{"db": "Genetic Testing Registry (GTR)", "id": "GTR000202257"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000320550"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000503185"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000512308"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000515785"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000521658"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000523364"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000576178"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0008316"}, {"db": "MedGen", "id": "C2674321"}, {"db": "Orphanet", "id": "745"}, {"db": "OMIM", "id": "176860", "type": "MIM"}]}], "id": 170}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 58216}, "record_status": "current", "title": "NG_016323.1:g.5006T>C AND Thrombophilia due to protein C deficiency, autosomal dominant", "clinvar_assertions": [{"id": 20863, "submission_id": {"local_key": "612283.0023_THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT", "submitter": "OMIM", "title": "PROC, -14T-C_THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT", "submitter_date": "2015-08-19"}, "clinvar_accession": {"acc": "SCV000020863", "version": 2, "type": "SCV", "date_updated": "2015-08-21", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "1998-04-24"}], "external_ids": [{"db": "OMIM", "id": "612283.0023", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Berg et al. (1994) detected a heterozygous T-to-C transition in the putative promoter region of the PROC gene in a patient with type I protein C deficiency and a history of recurrent venous thrombosis (THPH3; 176860). The mutation occurred 14 bp upstream of the transcription initiation site and within a sequence strongly homologous to the consensus binding site for a liver-enriched transcription factor, hepatocyte nuclear factor-1 (HNF1; 142410). Transfection experiments demonstrated that a CAT reporter gene construct containing 626 bp of the putative PROC gene promoter was capable of driving CAT expression in hepatoma cells. Levels of CAT expression from constructs bearing the mutation were found to be drastically reduced by comparison with the wildtype, consistent with the reduced plasma protein C antigen levels observed in the patient. The findings indicated a vital role for HNF1 in the expression of the PROC gene in vivo."}, "citations": [{"ids": [{"source": "PubMed", "value": "7881411"}]}], "xrefs": [{"db": "OMIM", "id": "176860", "type": "MIM"}, {"db": "OMIM", "id": "142410", "type": "MIM"}]}, {"attribute": {"type": "Description", "value": "Spek et al. (1998) found that the region around the -14T-C mutation corresponds to a binding site for the transcription factor HNF6 (ONECUT1; 604164), and that this site completely overlaps an HNF1-binding site. In vitro studies showed that HNF6 and HNF1 bound in a mutually exclusive manner. In transient transfection experiments, both HNF6 and HNF1 transactivated the wildtype PROC promoter, and the mutant promoter abolished transactivation by HNF6. Deletion studies showed that HNF1 activity was regulated by sequences either upstream or downstream of the HNF6/HNF1 site. Spek et al. (1998) concluded that HNF6 is the major determinant of protein C gene activity."}, "citations": [{"ids": [{"source": "PubMed", "value": "9553065"}]}], "xrefs": [{"db": "OMIM", "id": "604164", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "PROC, -14T-C"}}], "attributes": [{"type": "NonHGVS", "value": "-14T-C"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "PROC"}}]}], "xrefs": [{"db": "OMIM", "id": "612283.0023", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000003614", "version": 3, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2001-05-08"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Tipping et al. (2001) identified an intragenic deletion of exons 12-31 of the FANCA gene as accounting for 60% of Fanconi anemia chromosomes in 46 unrelated Afrikaner FA (see FANCA, 227650) patients. Two other mutations, also deletions, accounted for an additional 20%. By genealogic investigation of 12 Afrikaner families with FA, they traced the major deletion to a French Huguenot couple who arrived at the Cape in 1688. The same mutation and haplotype was found in an FANCA patient from the western Ruhr region of Germany. It was thus possible that the major founder mutation was introduced into South Africa from that region. Rhinelanders were a substantial component of the crew of the ships of the Dutch East India Company, and about one-third of the original European population of the Cape were of German origin."}, "citations": [{"ids": [{"source": "PubMed", "value": "11344308"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000003445", "version": 1, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "NM_000135.2(FANCA):c.1007_3066del"}}], "attributes": [{"type": "HGVS, genomic, top level", "value": "NC_000016.10:g.(89751224_89751251)_(89795352_89795381)del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000016.9:g.(89817632_89817659)_(89861760_89861789)del", "integer_value": 37}, {"type": "HGVS, non-validated", "value": "NM_000135.2:c.1007_3066del"}, {"type": "nucleotide change", "value": "EX12-31DEL"}], "cytogenic_locations": ["16q24.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "16", "accession": "NC_000016.10", "outer_start": 89751224, "inner_start": 89751251, "inner_stop": 89795352, "outer_stop": 89795381, "display_start": 89751224, "display_stop": 89795381, "strand": "-", "variant_length": 44158, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "16", "accession": "NC_000016.9", "outer_start": 89817632, "inner_start": 89817659, "inner_stop": 89861760, "outer_stop": 89861789, "display_start": 89817632, "display_stop": 89861789, "variant_length": 44102, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "FA complementation group A"}}], "symbols": [{"value": {"type": "Preferred", "value": "FANCA"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "16", "accession": "NC_000016.10", "start": 89737549, "stop": 89816647, "display_start": 89737549, "display_stop": 89816647, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "16", "accession": "NC_000016.9", "start": 89803958, "stop": 89883064, "display_start": 89803958, "display_stop": 89883064, "strand": "-", "variant_length": 79107, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "2175"}, {"db": "OMIM", "id": "607139", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:3582"}]}], "xrefs": [{"db": "dbVar", "id": "nssv7487160"}, {"db": "dbVar", "id": "nsv1197597"}, {"db": "OMIM", "id": "607139.0007", "type": "Allelic variant"}], "comments": [{"text": "Deletion of exons 12-31 from FANCA is caused by genomic deletion originating in the flanking intronic regions.", "type": "LocationOnGenomeAndProductNotAligned", "datasource": "NCBI curation"}, {"text": "NCBI staff reviewed the sequence information reported in PubMed 11344308 to determine the location of this allele on the current reference sequence.", "type": "public", "datasource": "NCBI curation"}, {"text": "44-kb genomic deletion of exons 12-31 plus flanking intronic sequences from FANCA.", "type": "public", "datasource": "NCBI curation"}], "id": 18484}], "names": [{"value": {"type": "Preferred", "value": "NM_000135.2(FANCA):c.1007_3066del"}}], "id": 3445}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Fanconi anemia complementation group A"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0009215"}]}, {"value": {"type": "Alternate", "value": "Fanconi anemia, group A"}}], "symbols": [{"value": {"type": "Alternate", "value": "FANCA"}, "xrefs": [{"db": "OMIM", "id": "227650", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors \u2013 particularly of the head and neck, skin, and genitourinary tract \u2013 are more common in individuals with FA."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1401"}]}, {"value": {"type": "keyword", "value": "Neoplasm"}}], "citations": [{"ids": [{"source": "PubMed", "value": "20301575"}, {"source": "BookShelf", "value": "NBK1401"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "20301753"}, {"source": "BookShelf", "value": "NBK5192"}], "type": "review", "abbrev": "GeneReviews"}, {"type": "practice guideline", "abbrev": "FARF, 2008", "url": "http://www.fanconi.org/images/uploads/other/Guidelines_for_Diagnosis_and_Management.pdf", "citation_text": "Fanconi Anemia Research Fund, Guidelines for Diagnosis and Management, 2008"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0009215"}, {"db": "MedGen", "id": "C3469521"}, {"db": "Orphanet", "id": "84"}, {"db": "OMIM", "id": "227650", "type": "MIM"}]}], "id": 883}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 61117}, "record_status": "current", "title": "NM_000135.2(FANCA):c.1007_3066del AND Fanconi anemia complementation group A", "clinvar_assertions": [{"id": 23772, "submission_id": {"local_key": "607139.0007_FANCONI ANEMIA, COMPLEMENTATION GROUP A", "submitter": "OMIM", "title": "FANCA, EX12-31DEL_FANCONI ANEMIA, COMPLEMENTATION GROUP A", "submitter_date": "2015-06-22"}, "clinvar_accession": {"acc": "SCV000023772", "version": 2, "type": "SCV", "date_updated": "2015-06-28", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2001-05-08"}], "external_ids": [{"db": "OMIM", "id": "607139.0007", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Tipping et al. (2001) identified an intragenic deletion of exons 12-31 of the FANCA gene as accounting for 60% of Fanconi anemia chromosomes in 46 unrelated Afrikaner FA (see FANCA, 227650) patients. Two other mutations, also deletions, accounted for an additional 20%. By genealogic investigation of 12 Afrikaner families with FA, they traced the major deletion to a French Huguenot couple who arrived at the Cape in 1688. The same mutation and haplotype was found in an FANCA patient from the western Ruhr region of Germany. It was thus possible that the major founder mutation was introduced into South Africa from that region. Rhinelanders were a substantial component of the crew of the ships of the Dutch East India Company, and about one-third of the original European population of the Cape were of German origin."}, "citations": [{"ids": [{"source": "PubMed", "value": "11344308"}]}], "xrefs": [{"db": "OMIM", "id": "227650", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "FANCA, EX12-31DEL"}}], "attributes": [{"type": "NonHGVS", "value": "EX12-31DEL"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "FANCA"}}]}], "xrefs": [{"db": "OMIM", "id": "607139.0007", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "FANCONI ANEMIA, COMPLEMENTATION GROUP A"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000004182", "version": 5, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2002-07-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "somatic", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only", "literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a tumor sample of primary breast cancer (114480), Chano et al. (2002) found compound heterozygosity for interstitial deletions in the RB1CC1 gene: deletion of exons 3-24 (nucleotides 534-5,322) and 9-23 (nucleotides 1,757-5,187), which would result in frameshifts at codons 4 and 411, respectively. Germline DNA was wildtype."}, "citations": [{"ids": [{"source": "PubMed", "value": "12068296"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000003976", "version": 1, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "NC_000008.11:g.52623770_52685461del"}}], "attributes": [{"type": "HGVS, genomic", "value": "NG_015833.1:g.34008_95699del"}, {"type": "HGVS, genomic, top level", "value": "NC_000008.11:g.52623770_52685461del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000008.10:g.53536328_53598019del", "integer_value": 37}, {"type": "nucleotide change", "value": "EX3-24 DEL"}], "cytogenic_locations": ["8q11"], "sequence_locations": [{"assembly": "GRCh38", "chr": "8", "accession": "NC_000008.11", "start": 52623768, "stop": 52685459, "display_start": 52623768, "display_stop": 52685459, "strand": "-", "variant_length": 61692, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "8", "accession": "NC_000008.10", "start": 53536328, "stop": 53598019, "display_start": 53536328, "display_stop": 53598019, "variant_length": 61692, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "RB1 inducible coiled-coil 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "RB1CC1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "8", "accession": "NC_000008.11", "start": 52622458, "stop": 52714435, "display_start": 52622458, "display_stop": 52714435, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "8", "accession": "NC_000008.10", "start": 53535017, "stop": 53627025, "display_start": 53535017, "display_stop": 53627025, "strand": "-", "variant_length": 92009, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "9821"}, {"db": "OMIM", "id": "606837", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:15574"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "12068296"}], "type": "general"}], "xrefs": [{"db": "dbVar", "id": "nssv3761588"}, {"db": "dbVar", "id": "nsv1067860"}, {"db": "OMIM", "id": "606837.0001", "type": "Allelic variant"}], "comments": [{"text": "NCBI staff reviewed the sequence information reported in PubMed 12068296 Fig. 3B to determine the location of this allele on the current reference sequence.", "type": "public", "datasource": "NCBI curation"}, {"text": "Deletion beginning in the CDS in exon 3 and extending into the 3'-UTR in exon 24, resulting in the deletion of exons 3-24 from RB1CC1.", "type": "public", "datasource": "NCBI curation"}], "id": 19015}], "names": [{"value": {"type": "Preferred", "value": "NC_000008.11:g.52623770_52685461del"}}], "id": 3976}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Breast adenocarcinoma"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0004988"}]}, {"value": {"type": "Alternate", "value": "Breast cancer, somatic"}}, {"value": {"type": "Alternate", "value": "Breast adenocarcinoma, somatic"}}], "xrefs": [{"db": "MONDO", "id": "MONDO:0004988"}, {"db": "MedGen", "id": "C0858252"}]}], "id": 1088}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 61685}, "record_status": "current", "title": "NC_000008.11:g.52623770_52685461del AND Breast adenocarcinoma", "clinvar_assertions": [{"id": 24348, "submission_id": {"local_key": "606837.0001_BREAST CANCER, SOMATIC", "submitter": "OMIM", "title": "RB1CC1, EX3-24 DEL_BREAST CANCER, SOMATIC", "submitter_date": "2015-03-03"}, "clinvar_accession": {"acc": "SCV000024348", "version": 2, "type": "SCV", "date_updated": "2015-03-06", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2002-07-01"}], "external_ids": [{"db": "OMIM", "id": "606837.0001", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "somatic", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a tumor sample of primary breast cancer (114480), Chano et al. (2002) found compound heterozygosity for interstitial deletions in the RB1CC1 gene: deletion of exons 3-24 (nucleotides 534-5,322) and 9-23 (nucleotides 1,757-5,187), which would result in frameshifts at codons 4 and 411, respectively. Germline DNA was wildtype."}, "citations": [{"ids": [{"source": "PubMed", "value": "12068296"}]}], "xrefs": [{"db": "OMIM", "id": "114480", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "RB1CC1, EX3-24 DEL"}}], "attributes": [{"type": "NonHGVS", "value": "EX3-24 DEL"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "RB1CC1"}}]}], "xrefs": [{"db": "OMIM", "id": "606837.0001", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "BREAST CANCER, SOMATIC"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000004183", "version": 5, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2002-07-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "somatic", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only", "literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "For discussion of the deletion of exons 9-23 found in the RB1CC1 gene (nucleotides 1,757-5,187) that was found in compound heterozygous state in a tumor sample of primary breast cancer (114480) by Chano et al. (2002), see 606837.0001."}, "citations": [{"ids": [{"source": "PubMed", "value": "12068296"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000003977", "version": 1, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "nsv1067861"}}], "attributes": [{"type": "HGVS, genomic, top level, previous", "value": "NC_000008.10:g.53537321_53574220del", "integer_value": 37}, {"type": "nucleotide change", "value": "EX9-23 DEL"}], "cytogenic_locations": ["8q11"], "sequence_locations": [{"assembly": "GRCh38", "chr": "8", "accession": "NC_000008.11", "start": 52624761, "stop": 52661660, "display_start": 52624761, "display_stop": 52661660, "strand": "-", "variant_length": 36900, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "8", "accession": "NC_000008.10", "start": 53537321, "stop": 53574220, "display_start": 53537321, "display_stop": 53574220, "variant_length": 36900, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "RB1 inducible coiled-coil 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "RB1CC1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "8", "accession": "NC_000008.11", "start": 52622458, "stop": 52714435, "display_start": 52622458, "display_stop": 52714435, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "8", "accession": "NC_000008.10", "start": 53535017, "stop": 53627025, "display_start": 53535017, "display_stop": 53627025, "strand": "-", "variant_length": 92009, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "9821"}, {"db": "OMIM", "id": "606837", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:15574"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "12068296"}], "type": "general"}], "xrefs": [{"db": "dbVar", "id": "nssv3761618"}, {"db": "dbVar", "id": "nsv1067861"}, {"db": "OMIM", "id": "606837.0002", "type": "Allelic variant"}], "comments": [{"text": "NCBI staff reviewed the sequence information reported in PubMed 12068296 Fig. 3B to determine the location of this allele on the current reference sequence.", "type": "public", "datasource": "NCBI curation"}, {"text": "Deletion beginning in the CDS in exon 9 and extending in exon 23, resulting in the deletion of exons 3-23 from RB1CC1.", "type": "public", "datasource": "NCBI curation"}], "id": 19016}], "names": [{"value": {"type": "Preferred", "value": "nsv1067861"}}], "id": 3977}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Breast adenocarcinoma"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0004988"}]}, {"value": {"type": "Alternate", "value": "Breast cancer, somatic"}}, {"value": {"type": "Alternate", "value": "Breast adenocarcinoma, somatic"}}], "xrefs": [{"db": "MONDO", "id": "MONDO:0004988"}, {"db": "MedGen", "id": "C0858252"}]}], "id": 1088}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 61686}, "record_status": "current", "title": "nsv1067861 AND Breast adenocarcinoma", "clinvar_assertions": [{"id": 24349, "submission_id": {"local_key": "606837.0002_BREAST CANCER, SOMATIC", "submitter": "OMIM", "title": "RB1CC1, EX9-23 DEL _BREAST CANCER, SOMATIC", "submitter_date": "2015-03-03"}, "clinvar_accession": {"acc": "SCV000024349", "version": 2, "type": "SCV", "date_updated": "2015-03-06", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2002-07-01"}], "external_ids": [{"db": "OMIM", "id": "606837.0002", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "somatic", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "For discussion of the deletion of exons 9-23 found in the RB1CC1 gene (nucleotides 1,757-5,187) that was found in compound heterozygous state in a tumor sample of primary breast cancer (114480) by Chano et al. (2002), see 606837.0001."}, "citations": [{"ids": [{"source": "PubMed", "value": "12068296"}]}], "xrefs": [{"db": "OMIM", "id": "114480", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "RB1CC1, EX9-23 DEL"}}], "attributes": [{"type": "NonHGVS", "value": "EX9-23 DEL"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "RB1CC1"}}]}], "xrefs": [{"db": "OMIM", "id": "606837.0002", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "BREAST CANCER, SOMATIC"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000004682", "version": 2, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2004-09-14"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 2 affected members of a Tunisian family with EAOH (208920), Amouri et al. (2004) identified a deletion of all 7 exons of the APTX gene. The patients showed typical clinical features of the disorder despite absence of the gene."}, "citations": [{"ids": [{"source": "PubMed", "value": "15365154"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000004432", "version": 1, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "NC_000009.12:g.(?_32973498)_(33001604_?)del"}}, {"value": {"type": "Alternate", "value": "APTX, DEL"}, "xrefs": [{"db": "OMIM", "id": "606350.0007", "type": "Allelic variant"}]}], "attributes": [{"type": "HGVS, genomic, top level", "value": "NC_000009.12:g.(?_32973498)_(33001604_?)del", "integer_value": 38}, {"type": "nucleotide change", "value": "DEL"}], "cytogenic_locations": ["9p13.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "9", "accession": "NC_000009.12", "inner_start": 32973498, "inner_stop": 33001604, "display_start": 32973498, "display_stop": 33001604, "strand": "-", "variant_length": 28107, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "aprataxin"}}], "symbols": [{"value": {"type": "Preferred", "value": "APTX"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "9", "accession": "NC_000009.12", "start": 32972616, "stop": 33025120, "display_start": 32972616, "display_stop": 33025120, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "9", "accession": "NC_000009.11", "start": 32972603, "stop": 33001638, "display_start": 32972603, "display_stop": 33001638, "strand": "-", "variant_length": 29036, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "54840"}, {"db": "OMIM", "id": "606350", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:15984"}]}], "xrefs": [{"db": "dbVar", "id": "nssv7487168"}, {"db": "dbVar", "id": "nsv1197503"}, {"db": "OMIM", "id": "606350.0007", "type": "Allelic variant"}], "comments": [{"text": "Deletion of entire APTX gene.", "type": "public", "datasource": "NCBI curation"}], "id": 19471}], "names": [{"value": {"type": "Preferred", "value": "NC_000009.12:g.(?_32973498)_(33001604_?)del"}}], "id": 4432}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0008842"}]}, {"value": {"type": "Alternate", "value": "Ataxia-oculomotor apraxia syndrome"}}, {"value": {"type": "Alternate", "value": "Ataxia-telangiectasia-like syndrome"}}, {"value": {"type": "Alternate", "value": "Early-onset cerebellar ataxia with hypoalbuminemia"}}, {"value": {"type": "Alternate", "value": "Adult onset ataxia with oculomotor apraxia"}, "xrefs": [{"db": "Genetic Alliance", "id": "Adult+onset+ataxia+with+oculomotor+apraxia/7641"}]}, {"value": {"type": "Alternate", "value": "Ataxia-oculomotor apraxia type 1"}, "xrefs": [{"db": "Orphanet", "id": "1168"}]}], "symbols": [{"value": {"type": "Alternate", "value": "EAOH"}, "xrefs": [{"db": "OMIM", "id": "208920", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "AOA"}, "xrefs": [{"db": "OMIM", "id": "208920", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "AOA1"}, "xrefs": [{"db": "OMIM", "id": "208920", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "EOCA-HA"}, "xrefs": [{"db": "OMIM", "id": "208920", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. The first manifestation is progressive gait imbalance (mean age of onset: 4.3 years; range: 2-10 years), followed by dysarthria, then upper-limb dysmetria with mild intention tremor. Oculomotor apraxia, usually noticed a few years after the onset of ataxia, progresses to external ophthalmoplegia. All affected individuals have generalized areflexia followed by a peripheral neuropathy and quadriplegia with loss of ambulation about seven to ten years after onset. Hands and feet are short and atrophic. Chorea and upper-limb dystonia are common. Intellect remains normal in some individuals; in others, different degrees of cognitive impairment have been observed."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1456"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "9283"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301629"}, {"source": "BookShelf", "value": "NBK1456"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "20301317"}, {"source": "BookShelf", "value": "NBK1138"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "20050888"}], "type": "practice guideline", "abbrev": "EFNS, 2010"}, {"ids": [{"source": "PubMed", "value": "24418350"}], "type": "practice guideline", "abbrev": "EFNS/ENS, 2014"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0008842"}, {"db": "MedGen", "id": "C1859598"}, {"db": "Orphanet", "id": "1168"}, {"db": "OMIM", "id": "208920", "type": "MIM"}]}], "id": 1218}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 62185}, "record_status": "current", "title": "NC_000009.12:g.(?_32973498)_(33001604_?)del AND Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia", "clinvar_assertions": [{"id": 24857, "submission_id": {"local_key": "606350.0007_ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA", "submitter": "OMIM", "title": "APTX, DEL _ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA", "submitter_date": "2012-11-06"}, "clinvar_accession": {"acc": "SCV000024857", "version": 1, "type": "SCV", "date_updated": "2013-04-04", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2004-09-14"}], "external_ids": [{"db": "OMIM", "id": "606350.0007", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 2 affected members of a Tunisian family with EAOH (208920), Amouri et al. (2004) identified a deletion of all 7 exons of the APTX gene. The patients showed typical clinical features of the disorder despite absence of the gene."}, "citations": [{"ids": [{"source": "PubMed", "value": "15365154"}]}], "xrefs": [{"db": "OMIM", "id": "208920", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "APTX, DEL"}}], "attributes": [{"type": "NonHGVS", "value": "DEL"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "APTX"}}]}], "xrefs": [{"db": "OMIM", "id": "606350.0007", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000004692", "version": 3, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "1998-04-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 2 families from central France, Town et al. (1998) found that nephropathic cystinosis (219800) was associated with hemizygosity for the same 2-bp deletion of the CTNS gene: deletion of TG at 397/399 resulted in a stop codon at the site of the mutation. The 2 families shared a common haplotype that segregated with the deletion. Deletion of the second allele was present in affected members of each family."}, "citations": [{"ids": [{"source": "PubMed", "value": "9537412"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000004442", "version": 1, "measures": [{"type": "microsatellite", "names": [{"value": {"type": "Preferred", "value": "NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer)"}}], "canonical_spdi": "NC_000017.11:3640263:TGTG:TG", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001374495.1:c.-220TG[1]"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001374496.1:c.-296+2950_-296+2951del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001374493.1:c.-299TG[1]"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001374494.1:c.-381+2950_-381+2951del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001031681.3:c.60_61del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001374492.1:c.60_61del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_004937.3:c.60_61del"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_052852.1:g.1056CA[1]"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_012489.2:g.8797TG[1]"}, {"type": "HGVS, genomic, top level", "value": "NC_000017.11:g.3640264TG[1]", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000017.10:g.3543558TG[1]", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_004937.2:c.60_61del"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001026851.2:p.Cys20_Glu21delinsTer"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001361421.1:p.Cys20_Glu21delinsTer"}, {"type": "HGVS, protein, RefSeq", "value": "NP_004928.2:p.Cys20_Glu21delinsTer"}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001374493.1:c.-299TG[1]"}]}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001374495.1:c.-220TG[1]"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001374494.1:c.-381+2950_-381+2951del"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001374496.1:c.-296+2950_-296+2951del"}]}, {"type": "MolecularConsequence", "value": "nonsense", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001587"}, {"db": "RefSeq", "id": "NM_001031681.3:c.60_61del"}]}, {"type": "MolecularConsequence", "value": "nonsense", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001587"}, {"db": "RefSeq", "id": "NM_001374492.1:c.60_61del"}]}, {"type": "MolecularConsequence", "value": "nonsense", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001587"}, {"db": "RefSeq", "id": "NM_004937.3:c.60_61del"}]}], "cytogenic_locations": ["17p13.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "17", "accession": "NC_000017.11", "start": 3640264, "stop": 3640265, "display_start": 3640264, "display_stop": 3640265, "variant_length": 2, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 3640263, "reference_allele_vcf": "ATG", "alternate_allele_vcf": "A"}, {"assembly": "GRCh37", "chr": "17", "accession": "NC_000017.10", "start": 3543558, "stop": 3543559, "display_start": 3543558, "display_stop": 3543559, "variant_length": 2, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 3543557, "reference_allele_vcf": "ATG", "alternate_allele_vcf": "A"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "cystinosin, lysosomal cystine transporter"}}], "symbols": [{"value": {"type": "Preferred", "value": "CTNS"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "17", "accession": "NC_000017.11", "start": 3636459, "stop": 3663103, "display_start": 3636459, "display_stop": 3663103, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "17", "accession": "NC_000017.10", "start": 3539761, "stop": 3566396, "display_start": 3539761, "display_stop": 3566396, "strand": "+", "variant_length": 26636, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "1497"}, {"db": "OMIM", "id": "606272", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:2518"}]}], "xrefs": [{"db": "OMIM", "id": "606272.0002", "type": "Allelic variant"}, {"db": "dbSNP", "id": "1567695026", "type": "rs"}], "comments": [{"text": "ClinGen staff contributed the HGVS expression for this variant.", "type": "public", "datasource": "ClinGen"}], "id": 19481}], "names": [{"value": {"type": "Preferred", "value": "NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer)"}}], "id": 4442}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Nephropathic cystinosis"}, "xrefs": [{"db": "GeneTests", "id": "54105"}, {"db": "Genetic Alliance", "id": "Nephropathic+cystinosis/5143"}, {"db": "MONDO", "id": "MONDO:0100151"}]}, {"value": {"type": "Alternate", "value": "Lysosomal cystine transport protein, defect of"}}, {"value": {"type": "Alternate", "value": "Cystinosin, defect of"}}, {"value": {"type": "Alternate", "value": "Abderhalden Lignac Kaufmann disease"}}, {"value": {"type": "Alternate", "value": "Abderhalden-Kaufmann-Lignac syndrome"}}], "symbols": [{"value": {"type": "Preferred", "value": "CTNS"}, "xrefs": [{"db": "Genetic Testing Registry (GTR)", "id": "GTR000529128"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000558532"}, {"db": "OMIM", "id": "219800", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1400"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "10074"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301574"}, {"source": "BookShelf", "value": "NBK1400"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0100151"}, {"db": "MedGen", "id": "C2931187"}, {"db": "Orphanet", "id": "213"}, {"db": "Orphanet", "id": "411629"}, {"db": "OMIM", "id": "219800", "type": "MIM"}]}], "id": 1222}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 62195}, "record_status": "current", "title": "NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer) AND Nephropathic cystinosis", "clinvar_assertions": [{"id": 24867, "submission_id": {"local_key": "606272.0002_CYSTINOSIS, NEPHROPATHIC", "submitter": "OMIM", "title": "CTNS, 2-BP DEL, 397TG_CYSTINOSIS, NEPHROPATHIC", "submitter_date": "2017-08-23"}, "clinvar_accession": {"acc": "SCV000024867", "version": 2, "type": "SCV", "date_updated": "2017-08-27", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "1998-04-01"}], "external_ids": [{"db": "OMIM", "id": "606272.0002", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 2 families from central France, Town et al. (1998) found that nephropathic cystinosis (219800) was associated with hemizygosity for the same 2-bp deletion of the CTNS gene: deletion of TG at 397/399 resulted in a stop codon at the site of the mutation. The 2 families shared a common haplotype that segregated with the deletion. Deletion of the second allele was present in affected members of each family."}, "citations": [{"ids": [{"source": "PubMed", "value": "9537412"}]}], "xrefs": [{"db": "OMIM", "id": "219800", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "CTNS, 2-BP DEL, 397TG"}}], "attributes": [{"type": "NonHGVS", "value": "2-BP DEL, 397TG"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "CTNS"}}]}], "xrefs": [{"db": "OMIM", "id": "606272.0002", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "CYSTINOSIS, NEPHROPATHIC"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000006747", "version": 6, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2006-07-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Kotzot et al. (1994) described an inbred Turkish family in which a boy and a girl related as first cousins, and in each case the offspring of consanguineous parents, had tyrosinase-positive oculocutaneous albinism, recurrent bacterial infections, granulocytopenia, intermittent thrombocytopenia, microcephaly, protruding midface, rough and projecting hair, and mild mental retardation (HPS2; 608233). Using genetic linkage analysis and targeted gene sequencing, Jung et al. (2006) defined a homozygous genomic deletion in AP3B1. The mutation led to in-frame skipping of exon 15 and thus perturbed proper assembly of the heterotetrameric AP3 complex. Despite distinct ultramorphologic changes suggestive of aberrant vesicular maturation, no functional aberrations were detected in neutrophil granulocytes. However, a comprehensive immunologic assessment revealed that natural killer (NK) and NKT-cell numbers were reduced in the AP3-deficient patients. The findings extended the clinical and molecular phenotype of human AP3 deficiency and provided insight into the role of the AP3 complex for the innate immune system. The deleted interval spanned 8,168 bp, including a large part of intron 14, the complete exon 15, and a small part of intron 15. Loss of exon 15 resulted in the absence of amino acid 49 to 550 while preserving the reading frame."}, "citations": [{"ids": [{"source": "PubMed", "value": "16537806"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "8042664"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000006375", "version": 4, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "NM_003664.5(AP3B1):c.1474-7072_1650+921del"}}], "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001271769.2:c.1327-7072_1503+921del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_003664.5:c.1474-7072_1650+921del"}, {"type": "HGVS, genomic, LRG", "value": "LRG_170:g.151314_159483del"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_007268.1:g.151314_159483del"}, {"type": "HGVS, genomic, top level", "value": "NC_000005.10:g.78140222_78148391del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000005.9:g.77436046_77444215del", "integer_value": 37}, {"type": "HGVS, protein"}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_001271769.2:c.1327-7072_1503+921del"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_003664.5:c.1474-7072_1650+921del"}]}, {"type": "MolecularConsequence", "value": "splice donor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001575"}, {"db": "RefSeq", "id": "NM_001271769.2:c.1327-7072_1503+921del"}]}, {"type": "MolecularConsequence", "value": "splice donor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001575"}, {"db": "RefSeq", "id": "NM_003664.5:c.1474-7072_1650+921del"}]}, {"type": "nucleotide change", "value": "EX15DEL"}], "cytogenic_locations": ["5q14.1"], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "start": 78140222, "stop": 78148391, "display_start": 78140222, "display_stop": 78148391, "variant_length": 8170, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 78140221, "reference_allele_vcf": "TGCAAATCTGGTAAATTATACTACTATTAAAAGTGGTTTCCCTTTCCTCTGCAGGACAAGGTCCATACTACTTAGCAGAGCATACAAGCCACTCCATGCGTTCAAACTGCAAAATGTCTTAGTCCATTTGGGCTACTGTTAGAAAATACCATAAACTGGGAAGCCTATTAATAATATAATTAATAATAAAAATTTATTTCTCACAGTTCTGGAGGCTGGGAAATCCAAGATCAAGGTACCCACAGTTCTGGTGTCTAGTGAGCACCCATTTTCTAATTTACAGATAGCACCTTCTCACTGTGTCCTCACATGGCAGAAGCAGCAAGCTAGCTCTCAGGGATCTCTTTTCTAAGAGCATAAAGTTCATTTATAAAGGCTCCACCCTTATGACCTAATCACCTCCCAAAGGTCCTACCTCCTAATACCATCACATGGGTGATCAGGTTTCACCACATGAACTTTGGGGGATATAAACTTTCAGACCATTGTACCTGCCATTCTGGACTCACCTTCAAAAAGTTTCCCAGAAACACCAAGCTGTTTCTTGACTCTGACCCTGTGCTTTCCTCTTTCTGTACAGTAAACCACTCTTACAAGCCCTTAGTCAAGAGTTTCATCCTTTATAAAATTTTCTCTGACCTCACATCGACTTCAGACTTTATAATTCGTCTAGAATTCCACTGTATGTCAATACTTCTGCTACAGCATTAACACACACTATTTCATTTTTTAATCTGTTTTCTCTCTTACTAGACTAGAATGTCATCTGTTTGCACTAGTATCATCTAACATAGAACCTGAAACAAACAGGCACCTAGAAATTGTTGAATGGTCAGACTAATGAAGGCACAGACCCCCGCTGTTTGATCAGAGTGAAGAGGAAAGTACGTATTAGATAGGTTGACTAACATTTGCCTCTCACCTGTTTGGAGTTGGTTAAATACAATTTTGCTCCCAGATTTAATATCTGCAGTTTTACCAGATCATCTTCACTAGTGAAGCTTTTAGCCATCTTCCTCAAAACATCAGGGGCAATTTTAGGAACTCGTTCACAGTTTTCTCCAATTAGCCAAAGAATACTTGCTCTAGCAACAGGAACCTAATATGAGAAGCAGATTACATAGTTAGAAGTAAGTTAATCATACTCTAATATTAACATAGAAAAGGTTTTAACTATTACAAAAGTTTTACAGCTATTAATTAATTTAATGTATATCTAGGAATTAATCCTGTATTTATGAATTTTCGTCAGTTATCAAAAAATAAACACATAGGAAATCTCATTAAAATTGATTTCGAAGAGAATATCTTAGAAAATATTCATACAGCAAAAACCGATGGTCTAGAATCTAGATTCTATCAGAGACGAACAAATTCTAGAAGCCAGTCTAGCTGCCCATACCTATTTGTTTCTCCATTATCTGTTGCTGCTTTTGTGCTATAATGGCAGAAATAGTTACAGTGAAGACCATATGGTCCTCAAAGCCAAAAATATTGACTGTCTAGCAATTTATAGAAATGGTTTGCTGACCCCTGCTCTAGAACAGCAGTTCCCAAACCTCAATGCCCACAAAAATCATCCAGGGTTCTTACTAAAAAGACAGGTCCTGGGATCAGCTCCAAAATAGTATTTCTGTGGTGGGGCCCAGAAATCTATGTTTTAATTTAAAAAGCATCACAGATGACTCCTGAGACAGGTGGTCCACAAAGCCCATTTGAGAACCCACAGATAATACAGAAAAAGAAACAGATCAATTAGGTACTATGATTCCAAATCAAAACTGTTTTTGCTCTTTATGTATTAGCATCTACAACACTGGAAATATATCAAACTGATAAGATCATCAAGGTCTGCTTATAAAATCATGAATCCCAGTCTATTATTTGGTCAACAAAAGAAACAGGGATAAATTTGTCCAATATTGCATTTTGGCACTATATTTTTAAATAAACTGCATTTCAATATAATTTATGTTCTTAAAAGTCACTGCTTTGTGACAAATTGGAAACCTTCCATCAGTACCATTAAGACCAACAATTTAGAGTATGCAAATTAGTTTTATTACTATTTGCTTATTTGCATCCTCCCCTATTCCAAAAGGAATTTGAGAGGGTGTGTAAATTCATTTCAGTGAACATTTTCACCTCGCACAGAAAATTTGTTTTTTATAATAAGTGAAAAGGCTGACAGCTATCATTAAAAGGTGGCATCACGAGGAAAGATAATGTTCTTTTTATGAAGTCCTTTTACAATTTCTCAAAGTCCTAATATTTTCTGTAGTTTCATGGCTATACATAGTAGGATTGTTAAAGAAAAAAGTGAGAATAAGGACCTTTCCATAGCTAAAATTTTATCACAATATCTACCATTGCAAAATCTTTCAAAACACCCACATTATGAAATTATATAAAAATATTAAGTTACAATATTGAGTCCTTCACTAGAATCAGAATGAGATGATCAAAAAAGCTTTTAAATAAAAAGGTATATATTTTAAAACAGTGTAACAGCATGTCTTTAAATTATTATTTAGCATGTTTGGTGAGACACAAGAAATCCATATACTTGTGCAATTAGAAAAAGGTCTAAGTGCTATTAAAAATCTATTCATGCAGTGTGATAAAACTGATGCCCTTACTGCATACTGATTTCTGGAAAGAAAAGAGGTTATTTCTAACGTTCCAAAGGTTACACTGCATTAAGACCTTACTCCCAATCTATTATTTTAAATTGGGCTAAAGAATAGTAATTGAGTGGTACATTAAATTTTCCAGTATAGAGGAATTCAAGTTGCCTGCCATAATGAAAGGTAGTTCTAAATAAGAATATATGTGCAACTTCAAATTTCAGTTATGCTAGATTTATTTTTCTTAAATATTTTATTATATATTGCTAGTATAAAAATCAGAATTCTATGACATACCATAATCTATTATCCCATTTTAAGTAATTTTCTTCTGGTAACAATCTTTTGCAATTAAAAAGACGATCCCAAAAACAAGTAATGTTTAAAGAGATTGTTTATATTCATGAATATACTAAAATTAAAATTAAAATATTGGAATACTGTAAACACTCACGATACATATATTTAAAATACAACTCTTTGAAAAAATTAAAAATCAATAAATCACAATGCTCACAATAAAAATCTCAAGATGGTGGTGAGAATAAGATTTGTAGTTTTCTAGAACTGAGCTAATAAAATCCCCAAGAATTTTTAAAACTTAGAAAACTTCACCACAAGAAATAATATCAATATAAATATACCAAACTTTTGGTGATGGCATTGTATTACAAAGCTTAGGAAACTGACAAAGACAACATTTTTGAGCAGGTGGATGGGATCAGAATACTAAGATTTTTGGATTCCAGCTTTCCCTTTCTCTTCCCATTAAGCAACAGGACTCTCATTTATACACCATTGACACTATGAATTCACAGCCACTACTTTCAAAGATTTGAAGCACCTGAAAAAAAGGCAAGTAAGAAAATTAGTCACTTTTTAGAGGCCAGGCACAGTGGCTCATGCCTAAAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGACAGGAGTTTGAGACCAGCCTGGCCAACATGGTGATACCCTGTCTCTACTAAATATACAAAATTAGCCTGGCACACTCCTGTAATTCCAGCTACTTGGGAGGCTAAGGTAAAAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAGAAAAGTAAATTAGTCACTTTTTGTTCCCCATGGTCTTTTTAACCACAAAATAAATAGGAACACTGAAATAAAACCAAACTAATAATACACACACAGACACAGACACAGGTACAGACACACACACAGAGTCATACATATGATATAATACTTTCATTATGAAGCTCTGCTTTTCAATATTCTCAAAGACAAATTGGATTGTAAATGACTTTGCCTGATTCTTTATTCTAAATGCCCTGAGAAAGTGATTAAATGCACTTTTCAAACCTTGTACTAGAAGGCAGTTTCCACGGCCACCACAACCCATTAATTTGCCAGCAAAAACAAATAATGATTCCTAGCTCACCACAGCAGCTATAGAAAGACATCTAGAAAGATTTTGCAGATCACTCTGTAAGCAGTTCAATTTAAAAGCTATTGTGTTTCAACACCAGCCCACTGCACAGTGCAACAGTCCAAAGTAAACCCTACAAAAACATCAATTTCATTTATTTAAATTTGTCAAAGGCAAAATCAGTAGACATCTAAGCAAACTGCATACCAACAGCAAATCAGATCTAATACTCTGTATCTGGACTCAATATGCATTAAAGCCTAAGCCTGAATTACAATGGGGTGCCAGAGAAAGGGTGGGTAACTTGTGAAATGGCAGGCATCCTGTGAGGCATCTGGGCAACAAGGATACAAAGTGCTATTTCAATATTACTCAGTTTTTACAGAATAACATCTTTCAGTTGTTAAGATATGAAATCCCATCTGTCCCATTAAACATTATGTGAAATCCTGTCAGAGCAATCCACAGGTAGTATGGGTTGTTTTGTTGTTGTTGTTGTTTTTTAAAGACAGGGTCTTACTCTGTCATCCAGGCTGGAGTGCGGTGGTGCAATCATTGCTCACTACAACCTCAAACTCCTGGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCATGCCAGCTGATAGTATGCATTTTATTCTAGAAGAACTCCAAAACCAGTATTTATCATAAATGAAGGATACGCCAAAGGACAGAATACTCACAATCAGAACATGTAAGTTGACTGTATTACAGACATAAATCTATTTGATTTGACCGAATTCAAAATGTAAAATACATTTAAACTTTAGTTTTTATATTTTCAATTATTACTAAATAACCAATTAAAACAAAGCCCTCAATATGATAAAATCTATGTTCTCTTTTTAAAACAAATTACATAGCTAATATCTATTGAGCTCTTACCATGTGCCATGCACTGTTTTTGAGAGCTTTACGTATTTTCTCAGTCATTCATCGCCAAAGCCCTATGAAGTATGCTCTACTATGATCTGCACTAGACATATGAGGAAACTAGGTAACAAATGAGTTAAGAAACTTGCCCACATCTCACAGCTGGTTAGTGGTGGAACTAGGATCAGAACTCCAAATCTGAATCCAAAATTCATACTGGATCACTGGGTAGCGACAAAATGAGTGTGGTAAACTAGGAAGAATACTGGTCAGCAAGCTGTTGAGACCGGTTCTGATCCCACACTGATGGTGTTACATCAAGGAGGCAATTAACTTCACCTCACTGGGGTCATATTTACTTATTAATCAGATGAAGGATTATTCCTTCATCCTCTGTTTGTCTGCCACATTGTGCAATGGCTCCCTTAGTGCCTCCTGCCATTTCCCCAAGAGCCAGATTTTCAGGGCAGACCCAGGCCATCCTCTTGCCTGTTCCCACACCCGTGTATAGTGGGACATTTTCCCACTTCTTTCACCTCTTCTTTTAAGGATAGGTAAGGTGGCCAGGTGGGAAGAGGTCTTGCTATCACTTCTGTTCTCTCTCCTTCCAGAAGAAAGATGGACCCAGGATTCTGCCCTAATAAAGTGGCTCAGGCACTGAAGGAAAACATGCTCAATATTGACCCATTGTCCTTAGATATTGGACAGACTGGCTTTTCCTAAAATTGCAGTGTTTTAGAATGACACTCCTGGGTTTGATGGTGAAATAGGTAGAGATTCAGGAGGACAGAAGTCTCATTTAAGGCTCTTATTTTAAGGCTCACATTTTAAAATCACTTGCCTACGTTTAGGAGTTATCAGGTACTTGGTCGGATTAATAAAACACTGCTTTTATTTCCACATGGCCATTGTTCTTGTATAAACAGCTCTCCTGACTGGAACAGAGAGATTCTGGGGATTCAATCATTCTTCTTTCCTGACTTTGAAGTTATGTCTGCTACATCCCTCATCACCTTCTCCTGGGGTAACTTGTGGTTGACCATTTTGAGGGTTCTGCACAACAAATTGTTTTGATTCTTCCTTGCTTGTCCCACCTTCAAGCACTTCAGTTTCCTCAGATACGTTAGATGAGCAGTAACAACTAATTATCAGCTTTTCATTCTCCTTAAGTTCAAATGTGTGCTGTAGAATTCCATACAGCTTTCTTGTATTTTAATTTCTTTTATTATCATATTCCAGATTTGTCTACTTTTGTTACCTCTCTCTGCTTCATAATAATTAGAAGGGAATTTTGTTTTATTTTCTTTCCAAAAGACCAGATTTAACATGTACTTTTCAACTCATATATATTTTTTGTATTCTATTTTACAAAATCAGCATTGATCCCTCTTCTGTTTTGATTCGTTTTTCTTTTATTTTATATCCCTATACTTTAAAAATGGTGATCTTTATAACTTTAGCCATGTCCTACATGTTTTGAAATAAAGCATTTTATTTCCTGGGTTTTAGAAAAAAGTTTGCATTTCTTCTTTAAATGCATTCTTTAATCTGAAAGTACATTTCTTACTTTACAACTGGTCTGGTACCCTTTTAAATTATTTAAGTCTCATTTCATTGCTTAAGGTCAAAGAATGCAAAATCTTTAAGCTTCCTTTATGCCTAAATACATTCTTGATTTTTTGAAAATATTCACTGGATATACTCCTAAAAGTGGGTATTATCTGTTCAAGAGATATAAGGTTTTAGCTATATTTACTAAATAAGTTTTTGATTACTTAATTTTCTTACTTATATCTGTCTACTAGAAATATCTAATATGAGAGAAATACATTACAGTCACACATTGTAACTATTTTATCAATTTCTCCTCACATTTTGAATAGATTTTTCCTTTACATATTTATTTGGTTGCCATATTTTTTGTGCAAATAGGTTTGTGCTTATTACTTTCTTTACAAATTACCCTTTTTTCATTTTATAATGTTCCTTTTTATCTTGTTAAATGCTTTTAATTAACTGTAAATCTCACTTTCTTGTTCATATTTGCTTAATATCTCTTTCCTTACCTTCTTATTTTCAACTTTTATCACTTGATTAAGGTGCTTTAACTATAAATGGCCTGTAGCTAGTTTTTGTTTTTATTCCAATTTGTAAGTCTGTCTTTTGATGAGAAAATTCAGTCCATTCATATTCAAGATGAGAAATATTTGATTTTATTTCTTCCATCTTTATTACTTTTAAATACTTATTATTTATTTTACATTTGTTTTCTTTCTTTCTTATTTTTTTTCTGGCTTTGTAAAACTGCTATTTGTTCCTTTATTTTCCTTTGTGAATACTGAATTCTCACCATATTTTTGTATCTATTAATGGTTATCTTCTGAGAAAAACAAAAGCTGAAAAAAATAAGCTTTGCTATATAGAGCTGTAAGACTGTACTTATTTGGCTTATAGTCCAGCAACTGTTGAGAAAGTTGATGCATCAGCCAGGTGCCATGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGGGGTGAGATCACCTGAGGTCAGGAGTTTGAGACCAGCGTGGTCAACATGGGGAAACCCCATCTCTACTAAAAACACAAAAATTATCCAGGCACGGTGGCGCATGCCTGTAATCCCAACTACTCAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGATGAGATTGCGCCACTGCACTCCAGCCAGGGTGACAGAGCAAGACTCCATTAAAAAAAAAAAGGGAAAGAGAGAGAATGAGCGAGAAAAAGAAAGTTTACACATCAAAAGTATCTTCTGTATCCCTGGACATGAATATACTCAAATAGAAGAAAGTTTTCTTCCAAGAAAGCCTAGGGTTTGCCAGATACAGGCCTCATACACTGTTACAGGTTTTATGTATAGCAGCTGCACTCTCCTGAAGCCCTAGTACTTATAATTGCCTCTTCCTTTCTAAACAGGACCAGAACGAGTTTACTAGCACAAGTTTTAACTAAATTTTGCACAAGAAGTCTGGGGAGATACAGAACTCCTAGTTCCTTCTCATAATCAGATACATACTTCTCTACCATTACCTGTAAACAAGGTATTAA", "alternate_allele_vcf": "T"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "start": 77436046, "stop": 77444215, "display_start": 77436046, "display_stop": 77444215, "variant_length": 8170, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 77436045, "reference_allele_vcf": "TGCAAATCTGGTAAATTATACTACTATTAAAAGTGGTTTCCCTTTCCTCTGCAGGACAAGGTCCATACTACTTAGCAGAGCATACAAGCCACTCCATGCGTTCAAACTGCAAAATGTCTTAGTCCATTTGGGCTACTGTTAGAAAATACCATAAACTGGGAAGCCTATTAATAATATAATTAATAATAAAAATTTATTTCTCACAGTTCTGGAGGCTGGGAAATCCAAGATCAAGGTACCCACAGTTCTGGTGTCTAGTGAGCACCCATTTTCTAATTTACAGATAGCACCTTCTCACTGTGTCCTCACATGGCAGAAGCAGCAAGCTAGCTCTCAGGGATCTCTTTTCTAAGAGCATAAAGTTCATTTATAAAGGCTCCACCCTTATGACCTAATCACCTCCCAAAGGTCCTACCTCCTAATACCATCACATGGGTGATCAGGTTTCACCACATGAACTTTGGGGGATATAAACTTTCAGACCATTGTACCTGCCATTCTGGACTCACCTTCAAAAAGTTTCCCAGAAACACCAAGCTGTTTCTTGACTCTGACCCTGTGCTTTCCTCTTTCTGTACAGTAAACCACTCTTACAAGCCCTTAGTCAAGAGTTTCATCCTTTATAAAATTTTCTCTGACCTCACATCGACTTCAGACTTTATAATTCGTCTAGAATTCCACTGTATGTCAATACTTCTGCTACAGCATTAACACACACTATTTCATTTTTTAATCTGTTTTCTCTCTTACTAGACTAGAATGTCATCTGTTTGCACTAGTATCATCTAACATAGAACCTGAAACAAACAGGCACCTAGAAATTGTTGAATGGTCAGACTAATGAAGGCACAGACCCCCGCTGTTTGATCAGAGTGAAGAGGAAAGTACGTATTAGATAGGTTGACTAACATTTGCCTCTCACCTGTTTGGAGTTGGTTAAATACAATTTTGCTCCCAGATTTAATATCTGCAGTTTTACCAGATCATCTTCACTAGTGAAGCTTTTAGCCATCTTCCTCAAAACATCAGGGGCAATTTTAGGAACTCGTTCACAGTTTTCTCCAATTAGCCAAAGAATACTTGCTCTAGCAACAGGAACCTAATATGAGAAGCAGATTACATAGTTAGAAGTAAGTTAATCATACTCTAATATTAACATAGAAAAGGTTTTAACTATTACAAAAGTTTTACAGCTATTAATTAATTTAATGTATATCTAGGAATTAATCCTGTATTTATGAATTTTCGTCAGTTATCAAAAAATAAACACATAGGAAATCTCATTAAAATTGATTTCGAAGAGAATATCTTAGAAAATATTCATACAGCAAAAACCGATGGTCTAGAATCTAGATTCTATCAGAGACGAACAAATTCTAGAAGCCAGTCTAGCTGCCCATACCTATTTGTTTCTCCATTATCTGTTGCTGCTTTTGTGCTATAATGGCAGAAATAGTTACAGTGAAGACCATATGGTCCTCAAAGCCAAAAATATTGACTGTCTAGCAATTTATAGAAATGGTTTGCTGACCCCTGCTCTAGAACAGCAGTTCCCAAACCTCAATGCCCACAAAAATCATCCAGGGTTCTTACTAAAAAGACAGGTCCTGGGATCAGCTCCAAAATAGTATTTCTGTGGTGGGGCCCAGAAATCTATGTTTTAATTTAAAAAGCATCACAGATGACTCCTGAGACAGGTGGTCCACAAAGCCCATTTGAGAACCCACAGATAATACAGAAAAAGAAACAGATCAATTAGGTACTATGATTCCAAATCAAAACTGTTTTTGCTCTTTATGTATTAGCATCTACAACACTGGAAATATATCAAACTGATAAGATCATCAAGGTCTGCTTATAAAATCATGAATCCCAGTCTATTATTTGGTCAACAAAAGAAACAGGGATAAATTTGTCCAATATTGCATTTTGGCACTATATTTTTAAATAAACTGCATTTCAATATAATTTATGTTCTTAAAAGTCACTGCTTTGTGACAAATTGGAAACCTTCCATCAGTACCATTAAGACCAACAATTTAGAGTATGCAAATTAGTTTTATTACTATTTGCTTATTTGCATCCTCCCCTATTCCAAAAGGAATTTGAGAGGGTGTGTAAATTCATTTCAGTGAACATTTTCACCTCGCACAGAAAATTTGTTTTTTATAATAAGTGAAAAGGCTGACAGCTATCATTAAAAGGTGGCATCACGAGGAAAGATAATGTTCTTTTTATGAAGTCCTTTTACAATTTCTCAAAGTCCTAATATTTTCTGTAGTTTCATGGCTATACATAGTAGGATTGTTAAAGAAAAAAGTGAGAATAAGGACCTTTCCATAGCTAAAATTTTATCACAATATCTACCATTGCAAAATCTTTCAAAACACCCACATTATGAAATTATATAAAAATATTAAGTTACAATATTGAGTCCTTCACTAGAATCAGAATGAGATGATCAAAAAAGCTTTTAAATAAAAAGGTATATATTTTAAAACAGTGTAACAGCATGTCTTTAAATTATTATTTAGCATGTTTGGTGAGACACAAGAAATCCATATACTTGTGCAATTAGAAAAAGGTCTAAGTGCTATTAAAAATCTATTCATGCAGTGTGATAAAACTGATGCCCTTACTGCATACTGATTTCTGGAAAGAAAAGAGGTTATTTCTAACGTTCCAAAGGTTACACTGCATTAAGACCTTACTCCCAATCTATTATTTTAAATTGGGCTAAAGAATAGTAATTGAGTGGTACATTAAATTTTCCAGTATAGAGGAATTCAAGTTGCCTGCCATAATGAAAGGTAGTTCTAAATAAGAATATATGTGCAACTTCAAATTTCAGTTATGCTAGATTTATTTTTCTTAAATATTTTATTATATATTGCTAGTATAAAAATCAGAATTCTATGACATACCATAATCTATTATCCCATTTTAAGTAATTTTCTTCTGGTAACAATCTTTTGCAATTAAAAAGACGATCCCAAAAACAAGTAATGTTTAAAGAGATTGTTTATATTCATGAATATACTAAAATTAAAATTAAAATATTGGAATACTGTAAACACTCACGATACATATATTTAAAATACAACTCTTTGAAAAAATTAAAAATCAATAAATCACAATGCTCACAATAAAAATCTCAAGATGGTGGTGAGAATAAGATTTGTAGTTTTCTAGAACTGAGCTAATAAAATCCCCAAGAATTTTTAAAACTTAGAAAACTTCACCACAAGAAATAATATCAATATAAATATACCAAACTTTTGGTGATGGCATTGTATTACAAAGCTTAGGAAACTGACAAAGACAACATTTTTGAGCAGGTGGATGGGATCAGAATACTAAGATTTTTGGATTCCAGCTTTCCCTTTCTCTTCCCATTAAGCAACAGGACTCTCATTTATACACCATTGACACTATGAATTCACAGCCACTACTTTCAAAGATTTGAAGCACCTGAAAAAAAGGCAAGTAAGAAAATTAGTCACTTTTTAGAGGCCAGGCACAGTGGCTCATGCCTAAAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGACAGGAGTTTGAGACCAGCCTGGCCAACATGGTGATACCCTGTCTCTACTAAATATACAAAATTAGCCTGGCACACTCCTGTAATTCCAGCTACTTGGGAGGCTAAGGTAAAAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAGAAAAGTAAATTAGTCACTTTTTGTTCCCCATGGTCTTTTTAACCACAAAATAAATAGGAACACTGAAATAAAACCAAACTAATAATACACACACAGACACAGACACAGGTACAGACACACACACAGAGTCATACATATGATATAATACTTTCATTATGAAGCTCTGCTTTTCAATATTCTCAAAGACAAATTGGATTGTAAATGACTTTGCCTGATTCTTTATTCTAAATGCCCTGAGAAAGTGATTAAATGCACTTTTCAAACCTTGTACTAGAAGGCAGTTTCCACGGCCACCACAACCCATTAATTTGCCAGCAAAAACAAATAATGATTCCTAGCTCACCACAGCAGCTATAGAAAGACATCTAGAAAGATTTTGCAGATCACTCTGTAAGCAGTTCAATTTAAAAGCTATTGTGTTTCAACACCAGCCCACTGCACAGTGCAACAGTCCAAAGTAAACCCTACAAAAACATCAATTTCATTTATTTAAATTTGTCAAAGGCAAAATCAGTAGACATCTAAGCAAACTGCATACCAACAGCAAATCAGATCTAATACTCTGTATCTGGACTCAATATGCATTAAAGCCTAAGCCTGAATTACAATGGGGTGCCAGAGAAAGGGTGGGTAACTTGTGAAATGGCAGGCATCCTGTGAGGCATCTGGGCAACAAGGATACAAAGTGCTATTTCAATATTACTCAGTTTTTACAGAATAACATCTTTCAGTTGTTAAGATATGAAATCCCATCTGTCCCATTAAACATTATGTGAAATCCTGTCAGAGCAATCCACAGGTAGTATGGGTTGTTTTGTTGTTGTTGTTGTTTTTTAAAGACAGGGTCTTACTCTGTCATCCAGGCTGGAGTGCGGTGGTGCAATCATTGCTCACTACAACCTCAAACTCCTGGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCATGCCAGCTGATAGTATGCATTTTATTCTAGAAGAACTCCAAAACCAGTATTTATCATAAATGAAGGATACGCCAAAGGACAGAATACTCACAATCAGAACATGTAAGTTGACTGTATTACAGACATAAATCTATTTGATTTGACCGAATTCAAAATGTAAAATACATTTAAACTTTAGTTTTTATATTTTCAATTATTACTAAATAACCAATTAAAACAAAGCCCTCAATATGATAAAATCTATGTTCTCTTTTTAAAACAAATTACATAGCTAATATCTATTGAGCTCTTACCATGTGCCATGCACTGTTTTTGAGAGCTTTACGTATTTTCTCAGTCATTCATCGCCAAAGCCCTATGAAGTATGCTCTACTATGATCTGCACTAGACATATGAGGAAACTAGGTAACAAATGAGTTAAGAAACTTGCCCACATCTCACAGCTGGTTAGTGGTGGAACTAGGATCAGAACTCCAAATCTGAATCCAAAATTCATACTGGATCACTGGGTAGCGACAAAATGAGTGTGGTAAACTAGGAAGAATACTGGTCAGCAAGCTGTTGAGACCGGTTCTGATCCCACACTGATGGTGTTACATCAAGGAGGCAATTAACTTCACCTCACTGGGGTCATATTTACTTATTAATCAGATGAAGGATTATTCCTTCATCCTCTGTTTGTCTGCCACATTGTGCAATGGCTCCCTTAGTGCCTCCTGCCATTTCCCCAAGAGCCAGATTTTCAGGGCAGACCCAGGCCATCCTCTTGCCTGTTCCCACACCCGTGTATAGTGGGACATTTTCCCACTTCTTTCACCTCTTCTTTTAAGGATAGGTAAGGTGGCCAGGTGGGAAGAGGTCTTGCTATCACTTCTGTTCTCTCTCCTTCCAGAAGAAAGATGGACCCAGGATTCTGCCCTAATAAAGTGGCTCAGGCACTGAAGGAAAACATGCTCAATATTGACCCATTGTCCTTAGATATTGGACAGACTGGCTTTTCCTAAAATTGCAGTGTTTTAGAATGACACTCCTGGGTTTGATGGTGAAATAGGTAGAGATTCAGGAGGACAGAAGTCTCATTTAAGGCTCTTATTTTAAGGCTCACATTTTAAAATCACTTGCCTACGTTTAGGAGTTATCAGGTACTTGGTCGGATTAATAAAACACTGCTTTTATTTCCACATGGCCATTGTTCTTGTATAAACAGCTCTCCTGACTGGAACAGAGAGATTCTGGGGATTCAATCATTCTTCTTTCCTGACTTTGAAGTTATGTCTGCTACATCCCTCATCACCTTCTCCTGGGGTAACTTGTGGTTGACCATTTTGAGGGTTCTGCACAACAAATTGTTTTGATTCTTCCTTGCTTGTCCCACCTTCAAGCACTTCAGTTTCCTCAGATACGTTAGATGAGCAGTAACAACTAATTATCAGCTTTTCATTCTCCTTAAGTTCAAATGTGTGCTGTAGAATTCCATACAGCTTTCTTGTATTTTAATTTCTTTTATTATCATATTCCAGATTTGTCTACTTTTGTTACCTCTCTCTGCTTCATAATAATTAGAAGGGAATTTTGTTTTATTTTCTTTCCAAAAGACCAGATTTAACATGTACTTTTCAACTCATATATATTTTTTGTATTCTATTTTACAAAATCAGCATTGATCCCTCTTCTGTTTTGATTCGTTTTTCTTTTATTTTATATCCCTATACTTTAAAAATGGTGATCTTTATAACTTTAGCCATGTCCTACATGTTTTGAAATAAAGCATTTTATTTCCTGGGTTTTAGAAAAAAGTTTGCATTTCTTCTTTAAATGCATTCTTTAATCTGAAAGTACATTTCTTACTTTACAACTGGTCTGGTACCCTTTTAAATTATTTAAGTCTCATTTCATTGCTTAAGGTCAAAGAATGCAAAATCTTTAAGCTTCCTTTATGCCTAAATACATTCTTGATTTTTTGAAAATATTCACTGGATATACTCCTAAAAGTGGGTATTATCTGTTCAAGAGATATAAGGTTTTAGCTATATTTACTAAATAAGTTTTTGATTACTTAATTTTCTTACTTATATCTGTCTACTAGAAATATCTAATATGAGAGAAATACATTACAGTCACACATTGTAACTATTTTATCAATTTCTCCTCACATTTTGAATAGATTTTTCCTTTACATATTTATTTGGTTGCCATATTTTTTGTGCAAATAGGTTTGTGCTTATTACTTTCTTTACAAATTACCCTTTTTTCATTTTATAATGTTCCTTTTTATCTTGTTAAATGCTTTTAATTAACTGTAAATCTCACTTTCTTGTTCATATTTGCTTAATATCTCTTTCCTTACCTTCTTATTTTCAACTTTTATCACTTGATTAAGGTGCTTTAACTATAAATGGCCTGTAGCTAGTTTTTGTTTTTATTCCAATTTGTAAGTCTGTCTTTTGATGAGAAAATTCAGTCCATTCATATTCAAGATGAGAAATATTTGATTTTATTTCTTCCATCTTTATTACTTTTAAATACTTATTATTTATTTTACATTTGTTTTCTTTCTTTCTTATTTTTTTTCTGGCTTTGTAAAACTGCTATTTGTTCCTTTATTTTCCTTTGTGAATACTGAATTCTCACCATATTTTTGTATCTATTAATGGTTATCTTCTGAGAAAAACAAAAGCTGAAAAAAATAAGCTTTGCTATATAGAGCTGTAAGACTGTACTTATTTGGCTTATAGTCCAGCAACTGTTGAGAAAGTTGATGCATCAGCCAGGTGCCATGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGGGGTGAGATCACCTGAGGTCAGGAGTTTGAGACCAGCGTGGTCAACATGGGGAAACCCCATCTCTACTAAAAACACAAAAATTATCCAGGCACGGTGGCGCATGCCTGTAATCCCAACTACTCAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGATGAGATTGCGCCACTGCACTCCAGCCAGGGTGACAGAGCAAGACTCCATTAAAAAAAAAAAGGGAAAGAGAGAGAATGAGCGAGAAAAAGAAAGTTTACACATCAAAAGTATCTTCTGTATCCCTGGACATGAATATACTCAAATAGAAGAAAGTTTTCTTCCAAGAAAGCCTAGGGTTTGCCAGATACAGGCCTCATACACTGTTACAGGTTTTATGTATAGCAGCTGCACTCTCCTGAAGCCCTAGTACTTATAATTGCCTCTTCCTTTCTAAACAGGACCAGAACGAGTTTACTAGCACAAGTTTTAACTAAATTTTGCACAAGAAGTCTGGGGAGATACAGAACTCCTAGTTCCTTCTCATAATCAGATACATACTTCTCTACCATTACCTGTAAACAAGGTATTAA", "alternate_allele_vcf": "T"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "adaptor related protein complex 3 subunit beta 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "AP3B1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "start": 78000522, "stop": 78294698, "display_start": 78000522, "display_stop": 78294698, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "start": 77298149, "stop": 77590527, "display_start": 77298149, "display_stop": 77590527, "strand": "-", "variant_length": 292379, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "8546"}, {"db": "OMIM", "id": "603401", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:566"}]}], "xrefs": [{"db": "OMIM", "id": "603401.0005", "type": "Allelic variant"}], "comments": [{"text": "Deletion of exon 15 plus intronic flanking sequences from AP3B1 (NG_007268.1)", "type": "public", "datasource": "NCBI curation"}], "id": 21414}], "names": [{"value": {"type": "Preferred", "value": "NM_003664.5(AP3B1):c.1474-7072_1650+921del"}}], "xrefs": [{"db": "ClinGen", "id": "CA340565"}], "id": 6375}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Hermansky-Pudlak syndrome 2"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0011997"}]}, {"value": {"type": "Alternate", "value": "Platelet defects and oculocutaneous albinism"}}], "symbols": [{"value": {"type": "Preferred", "value": "HPS2"}, "xrefs": [{"db": "OMIM", "id": "608233", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1287"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "9435"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301464"}, {"source": "BookShelf", "value": "NBK1287"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0011997"}, {"db": "MedGen", "id": "C1842362"}, {"db": "Orphanet", "id": "79430"}, {"db": "OMIM", "id": "608233", "type": "MIM"}]}], "id": 1768}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 64250}, "record_status": "current", "title": "NM_003664.5(AP3B1):c.1474-7072_1650+921del AND Hermansky-Pudlak syndrome 2", "clinvar_assertions": [{"id": 26939, "submission_id": {"local_key": "603401.0005_HERMANSKY-PUDLAK SYNDROME 2", "submitter": "OMIM", "title": "AP3B1, EX15DEL_HERMANSKY-PUDLAK SYNDROME 2", "submitter_date": "2019-09-30"}, "clinvar_accession": {"acc": "SCV000026939", "version": 3, "type": "SCV", "date_updated": "2019-10-02", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2006-07-01"}], "external_ids": [{"db": "OMIM", "id": "603401.0005", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Kotzot et al. (1994) described an inbred Turkish family in which a boy and a girl related as first cousins, and in each case the offspring of consanguineous parents, had tyrosinase-positive oculocutaneous albinism, recurrent bacterial infections, granulocytopenia, intermittent thrombocytopenia, microcephaly, protruding midface, rough and projecting hair, and mild mental retardation (HPS2; 608233). Using genetic linkage analysis and targeted gene sequencing, Jung et al. (2006) defined a homozygous genomic deletion in AP3B1. The mutation led to in-frame skipping of exon 15 and thus perturbed proper assembly of the heterotetrameric AP3 complex. Despite distinct ultramorphologic changes suggestive of aberrant vesicular maturation, no functional aberrations were detected in neutrophil granulocytes. However, a comprehensive immunologic assessment revealed that natural killer (NK) and NKT-cell numbers were reduced in the AP3-deficient patients. The findings extended the clinical and molecular phenotype of human AP3 deficiency and provided insight into the role of the AP3 complex for the innate immune system. The deleted interval spanned 8,168 bp, including a large part of intron 14, the complete exon 15, and a small part of intron 15. Loss of exon 15 resulted in the absence of amino acid 49 to 550 while preserving the reading frame."}, "citations": [{"ids": [{"source": "PubMed", "value": "8042664"}]}, {"ids": [{"source": "PubMed", "value": "16537806"}]}], "xrefs": [{"db": "OMIM", "id": "608233", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "AP3B1, EX15DEL"}}], "attributes": [{"type": "NonHGVS", "value": "EX15DEL"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "AP3B1"}}]}], "xrefs": [{"db": "OMIM", "id": "603401.0005", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "HERMANSKY-PUDLAK SYNDROME 2"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000007011", "version": 3, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2004-01-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only", "literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In all 10 affected members from 2 families with congenital generalized lipodystrophy-1 (CGL1; 608594) from southeastern Brazil, Gomes et al. (2004) identified homozygosity for a 1.036-bp deletion encompassing nucleotide 50 of exon 3 to nucleotide 534 within intron 4 of the AGPAT2 gene, resulting in the skipping of exons 3 and 4 and inducing the deletion of nucleotides 317-588. The mutation causes a frameshift and premature termination codon, Gly106fsTer188. Gomes et al. (2004) noted that this mutation had previously been described in a large consanguineous pedigree from Portugal by Agarwal et al. (2002)."}, "citations": [{"ids": [{"source": "PubMed", "value": "11967537"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "14715872"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000006632", "version": 1, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "NM_006412.4(AGPAT2):c.366_588+534del"}}], "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001012727.2:c.366_492+910del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_006412.4:c.366_588+534del"}, {"type": "HGVS, genomic, top level", "value": "NC_000009.12:g.136676051_136677087del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000009.11:g.139570503_139571539del", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_006412.3:c.366_588+534del"}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_006412.4:c.366_588+534del"}]}, {"type": "MolecularConsequence", "value": "splice donor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001575"}, {"db": "RefSeq", "id": "NM_001012727.2:c.366_492+910del"}]}, {"type": "MolecularConsequence", "value": "splice donor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001575"}, {"db": "RefSeq", "id": "NM_006412.4:c.366_588+534del"}]}], "cytogenic_locations": ["9q34.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "9", "accession": "NC_000009.12", "start": 136676051, "stop": 136677087, "display_start": 136676051, "display_stop": 136677087, "variant_length": 1037, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 136676050, "reference_allele_vcf": "ACCCTGGCCTCTCCCAGACACCCTAGGATGCACTGCACCCCTGGAGGCTGGGGACCAGGAAGTCCAGAGTCTGGAGGCGCTGCTTACAATGAGCTCCACCCACCCTGAGCTCTGGTCTGGCCTGATACTACACCAAAAGCCTGGCTTGTCCAGACCCACTGCCCATGCCCTGAAGCCCACCCCAGCCAGGCACAGGCCCAGAAATGAGCCTCCTGAGAGCTCTGCAGCAGAGGCGAGCGGCCCGGCTCCCCACCCCTCTACCTGCCCAGCCTCGCAGGCCAAGCACTGGGTGCCCACCAAGGGCAGCTGGTCACTCTGGGCTCTGTGTGGGCAAAAGGCCCAAGGGGCTGCCCTCCCTGGTCGGTCAGGGGGCAAGTGCAGGAAGGGGCAAGGAGGCCCTGTCCCCAACTCAGTGGGAGGAGTCCCTTGTGTGTCAAGGGTCCTCAGCTCGGCTGGTGGTCACCTGCTGCCTTAAGCCAGCCTGACCCCGCCTCCCCAGCCTGCACCCACCCAGGGAGGGCTGGGCTCAGCCTACCTGTGCCTGGACTGCCAGGTAGAAGGCGCCCTTCTTAAAAGGCAGCAGGTCCCCATTGTCGTTGCGAGTACCCTCGGGATAGATCCACACTTTGAGCTGCAGGGAGAGGAGAGCCTGGACTGACCTCACGCCCAGGCCACCCCAGAAAGGCCACGCCGCCTCGCCTCCTAAGAAGCCCCACTTCGCAAAGCAGCTGGCATGGGACCCCATCTGCGGAGCATGGATGATGTAGGGGTCTGGCGTGGGACCCCACCTGCGGAGCATGGATGATGTGGGGGTCTTGTTTTTTCTGCCAAAACCAAGTCACAAGCTGGCCCCTGCCTGGCCCCGCCCAGGCCCCACCCCAACCCCACCGAGCCCGGCCCTGCACACTCACGTTCTCCCTGACCATGCGCTCGCCCAGGTCGGCCATCACTGTCATGGCAGTGCTAGAGCGCTGCCGGTTGATGAAGAAGACGCCCCCGAGGTACATGATGAGGCCCACGGGCCCCAGGAAGAGCAGC", "alternate_allele_vcf": "A"}, {"assembly": "GRCh37", "chr": "9", "accession": "NC_000009.11", "start": 139570503, "stop": 139571539, "display_start": 139570503, "display_stop": 139571539, "variant_length": 1037, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 139570502, "reference_allele_vcf": "ACCCTGGCCTCTCCCAGACACCCTAGGATGCACTGCACCCCTGGAGGCTGGGGACCAGGAAGTCCAGAGTCTGGAGGCGCTGCTTACAATGAGCTCCACCCACCCTGAGCTCTGGTCTGGCCTGATACTACACCAAAAGCCTGGCTTGTCCAGACCCACTGCCCATGCCCTGAAGCCCACCCCAGCCAGGCACAGGCCCAGAAATGAGCCTCCTGAGAGCTCTGCAGCAGAGGCGAGCGGCCCGGCTCCCCACCCCTCTACCTGCCCAGCCTCGCAGGCCAAGCACTGGGTGCCCACCAAGGGCAGCTGGTCACTCTGGGCTCTGTGTGGGCAAAAGGCCCAAGGGGCTGCCCTCCCTGGTCGGTCAGGGGGCAAGTGCAGGAAGGGGCAAGGAGGCCCTGTCCCCAACTCAGTGGGAGGAGTCCCTTGTGTGTCAAGGGTCCTCAGCTCGGCTGGTGGTCACCTGCTGCCTTAAGCCAGCCTGACCCCGCCTCCCCAGCCTGCACCCACCCAGGGAGGGCTGGGCTCAGCCTACCTGTGCCTGGACTGCCAGGTAGAAGGCGCCCTTCTTAAAAGGCAGCAGGTCCCCATTGTCGTTGCGAGTACCCTCGGGATAGATCCACACTTTGAGCTGCAGGGAGAGGAGAGCCTGGACTGACCTCACGCCCAGGCCACCCCAGAAAGGCCACGCCGCCTCGCCTCCTAAGAAGCCCCACTTCGCAAAGCAGCTGGCATGGGACCCCATCTGCGGAGCATGGATGATGTAGGGGTCTGGCGTGGGACCCCACCTGCGGAGCATGGATGATGTGGGGGTCTTGTTTTTTCTGCCAAAACCAAGTCACAAGCTGGCCCCTGCCTGGCCCCGCCCAGGCCCCACCCCAACCCCACCGAGCCCGGCCCTGCACACTCACGTTCTCCCTGACCATGCGCTCGCCCAGGTCGGCCATCACTGTCATGGCAGTGCTAGAGCGCTGCCGGTTGATGAAGAAGACGCCCCCGAGGTACATGATGAGGCCCACGGGCCCCAGGAAGAGCAGC", "alternate_allele_vcf": "A"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "1-acylglycerol-3-phosphate O-acyltransferase 2"}}], "symbols": [{"value": {"type": "Preferred", "value": "AGPAT2"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "9", "accession": "NC_000009.12", "start": 136673143, "stop": 136687457, "display_start": 136673143, "display_stop": 136687457, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "9", "accession": "NC_000009.11", "start": 139567594, "stop": 139581910, "display_start": 139567594, "display_stop": 139581910, "strand": "-", "variant_length": 14317, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "10555"}, {"db": "OMIM", "id": "603100", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:325"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3761633"}, {"db": "dbVar", "id": "nsv1067865"}, {"db": "OMIM", "id": "603100.0009", "type": "Allelic variant"}], "comments": [{"text": "Deletion in AGPAT2 (NG_008090.1) beginning in exon 3 and ending in intron 4", "type": "public", "datasource": "NCBI curation"}], "id": 21671}], "names": [{"value": {"type": "Preferred", "value": "NM_006412.4(AGPAT2):c.366_588+534del"}}], "xrefs": [{"db": "ClinGen", "id": "CA277954"}], "id": 6632}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Congenital generalized lipodystrophy type 1"}, "xrefs": [{"db": "Genetic Alliance", "id": "Congenital+Generalized+Lipodystrophy+Type+1/1829"}, {"db": "MONDO", "id": "MONDO:0012071"}]}, {"value": {"type": "Alternate", "value": "BRUNZELL SYNDROME, AGPAT2-RELATED"}, "xrefs": [{"db": "OMIM", "id": "608594", "type": "MIM"}]}], "symbols": [{"value": {"type": "Preferred", "value": "CGL1"}, "xrefs": [{"db": "OMIM", "id": "608594", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "BSCL1"}, "xrefs": [{"db": "OMIM", "id": "608594", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Berardinelli-Seip congenital lipodystrophy (BSCL) is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid is stored in other tissues, including muscle and liver. Affected individuals develop insulin resistance and approximately 25%-35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy occur in all affected individuals. Hypertrophic cardiomyopathy is reported in 20%-25% of affected individuals and is a significant cause of morbidity from cardiac failure and early mortality."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1212"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "84"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301391"}, {"source": "BookShelf", "value": "NBK1212"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0012071"}, {"db": "MedGen", "id": "C1720862"}, {"db": "Orphanet", "id": "528"}, {"db": "OMIM", "id": "608594", "type": "MIM"}]}], "id": 1835}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 64514}, "record_status": "current", "title": "NM_006412.4(AGPAT2):c.366_588+534del AND Congenital generalized lipodystrophy type 1", "clinvar_assertions": [{"id": 27207, "submission_id": {"local_key": "603100.0009_LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1", "submitter": "OMIM", "title": "AGPAT2, 1,036-BP DEL_LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1", "submitter_date": "2014-11-26"}, "clinvar_accession": {"acc": "SCV000027207", "version": 2, "type": "SCV", "date_updated": "2014-11-29", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2004-01-01"}], "external_ids": [{"db": "OMIM", "id": "603100.0009", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In all 10 affected members from 2 families with congenital generalized lipodystrophy-1 (CGL1; 608594) from southeastern Brazil, Gomes et al. (2004) identified homozygosity for a 1.036-bp deletion encompassing nucleotide 50 of exon 3 to nucleotide 534 within intron 4 of the AGPAT2 gene, resulting in the skipping of exons 3 and 4 and inducing the deletion of nucleotides 317-588. The mutation causes a frameshift and premature termination codon, Gly106fsTer188. Gomes et al. (2004) noted that this mutation had previously been described in a large consanguineous pedigree from Portugal by Agarwal et al. (2002)."}, "citations": [{"ids": [{"source": "PubMed", "value": "14715872"}]}, {"ids": [{"source": "PubMed", "value": "11967537"}]}], "xrefs": [{"db": "OMIM", "id": "608594", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "AGPAT2, 1,036-BP DEL"}}], "attributes": [{"type": "NonHGVS", "value": "1,036-BP DEL"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "AGPAT2"}}]}], "xrefs": [{"db": "OMIM", "id": "603100.0009", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000006409", "version": 4, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2006-07-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Oates et al. (2006) examined methylation at the promoter region of the AXIN1 gene in monozygotic twins discordant for a caudal duplication anomaly (607864). Methylation of the promoter region in the peripheral blood mononucleated cells was variable among individuals. The promoter region of the AXIN1 gene was significantly more methylated in the twin with the caudal duplication than in the unaffected twin, which was significantly more methylated than those in controls."}, "citations": [{"ids": [{"source": "PubMed", "value": "16773576"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000006038", "version": 1, "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "AXIN1, PROMOTER HYPERMETHYLATION"}}, {"value": {"type": "Alternate", "value": "AXIN1, PROMOTER HYPERMETHYLATION"}, "xrefs": [{"db": "OMIM", "id": "603816.0002", "type": "Allelic variant"}]}], "cytogenic_locations": ["16p13.3"], "measure_relationship": [{"type": "asserted, but not computed", "names": [{"value": {"type": "Preferred", "value": "axin 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "AXIN1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "16", "accession": "NC_000016.10", "start": 287440, "stop": 352723, "display_start": 287440, "display_stop": 352723, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "16", "accession": "NC_000016.9", "start": 337439, "stop": 402675, "display_start": 337439, "display_stop": 402675, "strand": "-", "variant_length": 65237, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "8312"}, {"db": "OMIM", "id": "603816", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:903"}]}], "xrefs": [{"db": "OMIM", "id": "603816.0002", "type": "Allelic variant"}], "id": 21077}], "names": [{"value": {"type": "Preferred", "value": "AXIN1, PROMOTER HYPERMETHYLATION"}}], "id": 6038}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Caudal duplication"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0011928"}]}, {"value": {"type": "Alternate", "value": "Caudal duplication anomaly"}, "xrefs": [{"db": "Genetic Alliance", "id": "Caudal+Duplication/1172"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0011928"}, {"db": "MedGen", "id": "C1842884"}, {"db": "Orphanet", "id": "1756"}, {"db": "OMIM", "id": "607864", "type": "MIM"}]}], "id": 1672}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 63912}, "record_status": "current", "title": "AXIN1, PROMOTER HYPERMETHYLATION AND Caudal duplication", "clinvar_assertions": [{"id": 26592, "submission_id": {"local_key": "603816.0002_CAUDAL DUPLICATION ANOMALY (1 patient)", "submitter": "OMIM", "title": "AXIN1, PROMOTER HYPERMETHYLATION_CAUDAL DUPLICATION ANOMALY (1 patient)", "submitter_date": "2017-02-17"}, "clinvar_accession": {"acc": "SCV000026592", "version": 3, "type": "SCV", "date_updated": "2017-02-20", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2006-07-01"}], "external_ids": [{"db": "OMIM", "id": "603816.0002", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Oates et al. (2006) examined methylation at the promoter region of the AXIN1 gene in monozygotic twins discordant for a caudal duplication anomaly (607864). Methylation of the promoter region in the peripheral blood mononucleated cells was variable among individuals. The promoter region of the AXIN1 gene was significantly more methylated in the twin with the caudal duplication than in the unaffected twin, which was significantly more methylated than those in controls."}, "citations": [{"ids": [{"source": "PubMed", "value": "16773576"}]}], "xrefs": [{"db": "OMIM", "id": "607864", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "AXIN1, PROMOTER HYPERMETHYLATION"}}], "attributes": [{"type": "NonHGVS", "value": "PROMOTER HYPERMETHYLATION"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "AXIN1"}}]}], "xrefs": [{"db": "OMIM", "id": "603816.0002", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "CAUDAL DUPLICATION ANOMALY (1 patient)"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000017658", "version": 28, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2009-09-17"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "somatic", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "The most common activating mutations in the FLT3 gene implicated in acute myeloid leukemia (601626) are internal tandem duplications (ITD) in exons 14 and 15 of the FLT3 gene, ranging in size from 3 to more than hundreds of nucleotides. ITDs most often occur in the cytoplasmic juxtamembrane domain (JMD) and are thought to disrupt autoinhibitory conformation of the FLT3 receptor, thus resulting in constitutive activation of downstream signaling. Some ITDs occur in the tyrosine kinase domain-1 (TKD1) (summary by Kayser et al., 2009)."}, "citations": [{"ids": [{"source": "PubMed", "value": "19602710"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Abu-Duhier et al. (2000) confirmed the findings of others that an ITD within the FLT3 gene occurs in a significant percentage of adult cases of acute myeloid leukemia and is associated with reduced survival when compared with the individuals who lack the FLT3 duplication."}, "citations": [{"ids": [{"source": "PubMed", "value": "11091200"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Yamamoto et al. (2001) found an ITD of the JMD-coding sequence of the FLT3 gene in 46 of 201 patients newly diagnosed with acute myeloid leukemia (excluding the M3 type). Mutations in the duplicated sequence occurred independently of the various mutations in the asp835 codon of the FLT3 gene (see 136351.0003)."}, "citations": [{"ids": [{"source": "PubMed", "value": "11290608"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Thornton and Levis (2007) stated that ITD mutations of FLT3 are detectable in roughly 25% of patients with newly diagnosed acute myelogenous leukemia. They described an example of associated profound leukostasis throughout multiple organs, including the heart, lungs, adrenal glands, liver, and spleen."}, "citations": [{"ids": [{"source": "PubMed", "value": "17942876"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Internal tandem duplications in the FLT3 gene disrupt the autoinhibitory JMD, resulting in constitutive activation of the catalytic domain of FLT3. Among 284 patients with acute leukemias carrying ITD of FLT3, Vempati et al. (2007) found that duplications had a mean length of 17 amino acids (range, 2 to 42). Duplications were localized in amino acids 591 to 599, and arg595 was the most frequently duplicated residue (77% of patients). In vitro mutagenesis studies indicated that arg595 has transforming potential and caused increased phosphorylation and activity of STAT5 (601511). Deletion of this residue resulted in decreased cell growth. Further studies indicated that the positive charge of arg595 has an essential role in transformation."}, "citations": [{"ids": [{"source": "PubMed", "value": "17387224"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Among 241 AML patients who were FTL3-ITD-positive, Kayser et al. (2009) found that the majority (69.5%) had an ITD in the JMD between amino acids 572 and 609. The remaining 30.5% had ITDs in the 3-prime direction from the JMD, predominantly in the beta-1-sheet of the tyrosine kinase-1 domain (TKD1). ITD size ranged from 15 to 180 nucleotides. Among both groups, longer duplication size was significantly associated with C-terminal localization, whereas increased number of ITDs was associated with a more N-terminal localization. Duplication of at least 1 residue in the critical region between residues 591 and 599 (Vempati et al., 2007) was found in 96.1% of ITDs. The most commonly affected residue was Y597 (78.4%), followed by R595 (75.5%). Combined duplication of Y589 and Y591, which are important for STAT5 (601511) signaling, was found in 42.2% of cases. A number of samples had concurrent mutations in other leukemia genes, particularly NPM1 (164040). Statistical analysis of patient outcome showed that ITDs in the beta-1-sheet of TKD1 were significantly associated with an inferior rate of complete remission after treatment (odds ratio of 0.22, p = 0.01), as well as survival."}, "citations": [{"ids": [{"source": "PubMed", "value": "17387224"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "19602710"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000016270", "version": 1, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "FLT3, INTERNAL TANDEM DUP"}}, {"value": {"type": "Alternate", "value": "FLT3, INTERNAL TANDEM DUP"}, "xrefs": [{"db": "OMIM", "id": "136351.0001", "type": "Allelic variant"}]}, {"value": {"type": "Alternate", "value": "FLT3 ITD"}}, {"value": {"type": "Alternate", "value": "FLT3ITD"}}], "attributes": [{"type": "nucleotide change", "value": "INTERNAL TANDEM DUP"}], "cytogenic_locations": ["13q12"], "measure_relationship": [{"type": "asserted, but not computed", "names": [{"value": {"type": "Preferred", "value": "fms related receptor tyrosine kinase 3"}}], "symbols": [{"value": {"type": "Preferred", "value": "FLT3"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "13", "accession": "NC_000013.11", "start": 28003274, "stop": 28100576, "display_start": 28003274, "display_stop": 28100576, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "13", "accession": "NC_000013.10", "start": 28577410, "stop": 28674728, "display_start": 28577410, "display_stop": 28674728, "strand": "-", "variant_length": 97319, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "2322"}, {"db": "OMIM", "id": "136351", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:3765"}]}], "xrefs": [{"db": "OMIM", "id": "136351.0001", "type": "Allelic variant"}], "id": 31309}], "names": [{"value": {"type": "Preferred", "value": "FLT3, INTERNAL TANDEM DUP"}}], "id": 16270}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Leukemia, acute myeloid, reduced survival in, somatic"}}], "xrefs": [{"db": "MedGen", "id": "C4225628"}]}], "id": 5278}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 75161}, "record_status": "current", "title": "FLT3, INTERNAL TANDEM DUP AND Leukemia, acute myeloid, reduced survival in, somatic", "clinvar_assertions": [{"id": 37935, "submission_id": {"local_key": "136351.0001_LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC", "submitter": "OMIM", "title": "FLT3, INTERNAL TANDEM DUP_LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC", "submitter_date": "2015-08-31"}, "clinvar_accession": {"acc": "SCV000037935", "version": 2, "type": "SCV", "date_updated": "2015-09-03", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2009-09-17"}], "external_ids": [{"db": "OMIM", "id": "136351.0001", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "somatic", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "The most common activating mutations in the FLT3 gene implicated in acute myeloid leukemia (601626) are internal tandem duplications (ITD) in exons 14 and 15 of the FLT3 gene, ranging in size from 3 to more than hundreds of nucleotides. ITDs most often occur in the cytoplasmic juxtamembrane domain (JMD) and are thought to disrupt autoinhibitory conformation of the FLT3 receptor, thus resulting in constitutive activation of downstream signaling. Some ITDs occur in the tyrosine kinase domain-1 (TKD1) (summary by Kayser et al., 2009)."}, "citations": [{"ids": [{"source": "PubMed", "value": "19602710"}]}], "xrefs": [{"db": "OMIM", "id": "601626", "type": "MIM"}]}, {"attribute": {"type": "Description", "value": "Abu-Duhier et al. (2000) confirmed the findings of others that an ITD within the FLT3 gene occurs in a significant percentage of adult cases of acute myeloid leukemia and is associated with reduced survival when compared with the individuals who lack the FLT3 duplication."}, "citations": [{"ids": [{"source": "PubMed", "value": "11091200"}]}]}, {"attribute": {"type": "Description", "value": "Yamamoto et al. (2001) found an ITD of the JMD-coding sequence of the FLT3 gene in 46 of 201 patients newly diagnosed with acute myeloid leukemia (excluding the M3 type). Mutations in the duplicated sequence occurred independently of the various mutations in the asp835 codon of the FLT3 gene (see 136351.0003)."}, "citations": [{"ids": [{"source": "PubMed", "value": "11290608"}]}]}, {"attribute": {"type": "Description", "value": "Thornton and Levis (2007) stated that ITD mutations of FLT3 are detectable in roughly 25% of patients with newly diagnosed acute myelogenous leukemia. They described an example of associated profound leukostasis throughout multiple organs, including the heart, lungs, adrenal glands, liver, and spleen."}, "citations": [{"ids": [{"source": "PubMed", "value": "17942876"}]}]}, {"attribute": {"type": "Description", "value": "Internal tandem duplications in the FLT3 gene disrupt the autoinhibitory JMD, resulting in constitutive activation of the catalytic domain of FLT3. Among 284 patients with acute leukemias carrying ITD of FLT3, Vempati et al. (2007) found that duplications had a mean length of 17 amino acids (range, 2 to 42). Duplications were localized in amino acids 591 to 599, and arg595 was the most frequently duplicated residue (77% of patients). In vitro mutagenesis studies indicated that arg595 has transforming potential and caused increased phosphorylation and activity of STAT5 (601511). Deletion of this residue resulted in decreased cell growth. Further studies indicated that the positive charge of arg595 has an essential role in transformation."}, "citations": [{"ids": [{"source": "PubMed", "value": "17387224"}]}], "xrefs": [{"db": "OMIM", "id": "601511", "type": "MIM"}]}, {"attribute": {"type": "Description", "value": "Among 241 AML patients who were FTL3-ITD-positive, Kayser et al. (2009) found that the majority (69.5%) had an ITD in the JMD between amino acids 572 and 609. The remaining 30.5% had ITDs in the 3-prime direction from the JMD, predominantly in the beta-1-sheet of the tyrosine kinase-1 domain (TKD1). ITD size ranged from 15 to 180 nucleotides. Among both groups, longer duplication size was significantly associated with C-terminal localization, whereas increased number of ITDs was associated with a more N-terminal localization. Duplication of at least 1 residue in the critical region between residues 591 and 599 (Vempati et al., 2007) was found in 96.1% of ITDs. The most commonly affected residue was Y597 (78.4%), followed by R595 (75.5%). Combined duplication of Y589 and Y591, which are important for STAT5 (601511) signaling, was found in 42.2% of cases. A number of samples had concurrent mutations in other leukemia genes, particularly NPM1 (164040). Statistical analysis of patient outcome showed that ITDs in the beta-1-sheet of TKD1 were significantly associated with an inferior rate of complete remission after treatment (odds ratio of 0.22, p = 0.01), as well as survival."}, "citations": [{"ids": [{"source": "PubMed", "value": "19602710"}]}, {"ids": [{"source": "PubMed", "value": "17387224"}]}], "xrefs": [{"db": "OMIM", "id": "601511", "type": "MIM"}, {"db": "OMIM", "id": "164040", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "FLT3, INTERNAL TANDEM DUP"}}], "attributes": [{"type": "NonHGVS", "value": "INTERNAL TANDEM DUP"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "FLT3"}}]}], "xrefs": [{"db": "OMIM", "id": "136351.0001", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000225363", "version": 1, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2016-06-24"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2016-03-02"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000236260", "version": 1, "measures": [{"type": "variation", "names": [{"value": {"type": "Alternate", "value": "GRCh37/hg19 chr15:21483759-32644465"}}], "id": 237816}], "names": [{"value": {"type": "Preferred", "value": "Single allele"}}], "id": 236260}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "15q11q13 microduplication syndrome"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0012081"}]}, {"value": {"type": "Alternate", "value": "DUPLICATION 15q11-q13 SYNDROME"}, "xrefs": [{"db": "OMIM", "id": "608636", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Chromosome 15q11-q13 duplication syndrome"}}, {"value": {"type": "Alternate", "value": "15q11.2-q13.1 Duplication Syndrome"}}], "attributes": [{"value": {"type": "public definition", "value": "Maternal 15q duplication syndrome (maternal dup15q) is characterized by hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms. Rarely, maternal dup15q may also be associated with psychosis or sudden unexplained death. Those with a maternal isodicentric 15q11.2-q13.1 supernumerary chromosome are typically more severely affected than those with an interstitial duplication."}, "xrefs": [{"db": "GeneReviews", "id": "NBK367946"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "27308687"}, {"source": "BookShelf", "value": "NBK367946"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0012081"}, {"db": "MedGen", "id": "C2675336"}, {"db": "Orphanet", "id": "238446"}, {"db": "OMIM", "id": "608636", "type": "MIM"}]}], "id": 10090}, "date_created": "2016-06-24", "date_last_updated": "2022-04-23", "id": 536968}, "record_status": "current", "title": "Single allele AND 15q11q13 microduplication syndrome", "clinvar_assertions": [{"id": 536869, "submission_id": {"local_key": "15q11.2-q13.1 duplication|OMIM:608636", "submitter": "GeneReviews", "submitted_assembly": "GRCh38", "submitter_date": "2016-03-02"}, "clinvar_accession": {"acc": "SCV000282239", "version": 1, "type": "SCV", "date_updated": "2016-06-24", "date_created": "2016-06-24", "org_id": "500062", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "citations": [{"url": "http://www.ncbi.nlm.nih.gov/books/NBK367946/"}], "date_last_evaluated": "2016-03-02"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Alternate", "value": "GRCh37/hg19 chr15:21483759-32644465"}}], "attributes": [{"type": "HGVS", "value": "15q11.2-q13.1 duplication"}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "608636", "type": "MIM"}]}]}, "comments": [{"text": "This comprises a maternally-derived 4.5 to12Mb duplication of the Prader-Willi/Angelman critical region (PWACR) within chromosome 15 at 15q11.2-q13.1.", "type": "public"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000536272", "version": 2, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2017-12-26"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "uncertain significance", "date_last_evaluated": "2017-03-22"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000459612", "version": 2, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "NC_000022.10:g.(?_40742514)_(40762546_?)dup"}}], "attributes": [{"type": "HGVS, genomic, top level, previous", "value": "NC_000022.10:g.(?_40742514)_(40762546_?)dup", "integer_value": 37}], "cytogenic_locations": ["22q13.1"], "sequence_locations": [{"assembly": "GRCh37", "chr": "22", "accession": "NC_000022.10", "inner_start": 40742514, "inner_stop": 40762546, "display_start": 40742514, "display_stop": 40762546, "variant_length": 20033, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "adenylosuccinate lyase"}}], "symbols": [{"value": {"type": "Preferred", "value": "ADSL"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "22", "accession": "NC_000022.11", "start": 40346500, "stop": 40387527, "display_start": 40346500, "display_stop": 40387527, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "22", "accession": "NC_000022.10", "start": 40742503, "stop": 40762576, "display_start": 40742503, "display_stop": 40762576, "strand": "+", "variant_length": 20074, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "158"}, {"db": "OMIM", "id": "608222", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:291"}]}], "id": 471313}], "names": [{"value": {"type": "Preferred", "value": "NC_000022.10:g.(?_40742514)_(40762546_?)dup"}}], "id": 459612}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Adenylosuccinate lyase deficiency"}, "xrefs": [{"db": "Genetic Alliance", "id": "Adenylosuccinase+Deficiency/230"}, {"db": "MONDO", "id": "MONDO:0007068"}, {"db": "SNOMED CT", "id": "15285008"}]}], "symbols": [{"value": {"type": "Preferred", "value": "ADSLD"}, "xrefs": [{"db": "OMIM", "id": "103050", "type": "MIM"}]}], "attributes": [{"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "550"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "23519317"}], "type": "practice guideline", "abbrev": "ACMG, 2013"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0007068"}, {"db": "MedGen", "id": "C0268126"}, {"db": "Orphanet", "id": "46"}, {"db": "OMIM", "id": "103050", "type": "MIM"}]}], "id": 619}, "date_created": "2017-12-26", "date_last_updated": "2022-04-23", "id": 1271018}, "record_status": "current", "replaces": ["RCV001294714"], "title": "NC_000022.10:g.(?_40742514)_(40762546_?)dup AND Adenylosuccinate lyase deficiency", "clinvar_assertions": [{"id": 1223576, "submission_id": {"local_key": "1584054|MedGen:C0268126", "submitter": "Invitae", "submitted_assembly": "GRCh37", "submitter_date": "2017-10-05"}, "clinvar_accession": {"acc": "SCV000631358", "version": 1, "type": "SCV", "date_updated": "2017-12-26", "date_created": "2017-12-26", "org_id": "500031", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "replaced_list": [{"accession": "SCV001483602", "version": 1, "date_changed": "2021-04-22"}], "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["uncertain significance"], "comments": [{"text": "A gross duplication of the genomic region encompassing the full coding sequence of the ADSL gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Duplication of the entire ADSL sequence has not been reported in the literature in an individual affected with an ADSL-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on ADSL protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance."}], "date_last_evaluated": "2017-03-22"}], "external_ids": [{"db": "Invitae", "id": "1584054"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Invitae Variant Classification Sherloc (09022015)"}, "citations": [{"ids": [{"source": "PubMed", "value": "28492532"}]}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NC_000022.10:g.(?_40742514)_(40762546_?)dup"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "ADSL"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MedGen", "id": "C0268126", "type": "CUI"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000539041", "version": 3, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2017-12-26"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "pathogenic", "date_last_evaluated": "2019-11-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000458651", "version": 2, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "NC_000023.10:g.(?_69080668)_(69177002_?)dup"}}], "attributes": [{"type": "HGVS, genomic, top level, previous", "value": "NC_000023.10:g.(?_69080668)_(69177002_?)dup", "integer_value": 37}], "cytogenic_locations": ["Xq13.1"], "sequence_locations": [{"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "inner_start": 69080668, "inner_stop": 69177002, "display_start": 69080668, "display_stop": 69177002, "variant_length": 96335, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "ectodysplasin A"}}], "symbols": [{"value": {"type": "Preferred", "value": "EDA"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 69616113, "stop": 70039472, "display_start": 69616113, "display_stop": 70039472, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 68835910, "stop": 69259321, "display_start": 68835910, "display_stop": 69259321, "strand": "+", "variant_length": 423412, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "1896"}, {"db": "OMIM", "id": "300451", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:3157"}]}], "id": 470380}], "names": [{"value": {"type": "Preferred", "value": "NC_000023.10:g.(?_69080668)_(69177002_?)dup"}}], "id": 458651}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Hypohidrotic X-linked ectodermal dysplasia"}, "xrefs": [{"db": "Genetic Alliance", "id": "Hypohidrotic+ectodermal+dysplasia+X-linked/3658"}, {"db": "SNOMED CT", "id": "239007005"}]}, {"value": {"type": "Alternate", "value": "ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Anhidrotic ectodermal dysplasia X-linked"}}, {"value": {"type": "Alternate", "value": "Christ Siemens Touraine syndrome"}}, {"value": {"type": "Alternate", "value": "Ectodermal dysplasia 1"}}, {"value": {"type": "Alternate", "value": "ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}, {"db": "OMIM", "id": "300451.0001", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0002", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0003", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0004", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0005", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0006", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0007", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0008", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0009", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0010", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0011", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0012", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0013", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0016", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0017", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0019", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0023", "type": "Allelic variant"}]}, {"value": {"type": "Alternate", "value": "CST syndrome"}}, {"value": {"type": "Alternate", "value": "Ectodermal dysplasia 1, anhidrotic"}}, {"value": {"type": "Alternate", "value": "Christ-Siemans-Touraine syndrome"}}], "symbols": [{"value": {"type": "Preferred", "value": "XHED"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "EDA1"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "ED1"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "EDA"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "XLHED"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "HED1"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "ECTD1"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow-growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, and at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1112"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "10427"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301291"}, {"source": "BookShelf", "value": "NBK1112"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0010585"}, {"db": "MedGen", "id": "C0162359"}, {"db": "Orphanet", "id": "181"}, {"db": "Orphanet", "id": "238468"}, {"db": "OMIM", "id": "305100", "type": "MIM"}]}], "id": 6534}, "date_created": "2017-12-26", "date_last_updated": "2022-04-23", "id": 1273787}, "record_status": "current", "title": "NC_000023.10:g.(?_69080668)_(69177002_?)dup AND Hypohidrotic X-linked ectodermal dysplasia", "clinvar_assertions": [{"id": 1222234, "submission_id": {"local_key": "2457053|MedGen:C0162359", "submitter": "Invitae", "submitted_assembly": "GRCh37", "submitter_date": "2020-02-06"}, "clinvar_accession": {"acc": "SCV000630016", "version": 3, "type": "SCV", "date_updated": "2020-04-09", "date_created": "2017-12-26", "org_id": "500031", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["pathogenic"], "citations": [{"ids": [{"source": "PubMed", "value": "24689965"}]}, {"ids": [{"source": "PubMed", "value": "27305980"}]}], "comments": [{"text": "This variant is a gross duplication of the genomic region encompassing exon 2 of the EDA gene. While the exact position of the duplicated exon cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. Duplication of exon 2 has been reported in individuals affected with X-linked hypohidrotic ectodermal dysplasia (PMID: 27305980, 24689965). Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). For these reasons, this variant has been classified as Pathogenic."}], "date_last_evaluated": "2019-11-01"}], "external_ids": [{"db": "Invitae", "id": "2457053"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Invitae Variant Classification Sherloc (09022015)"}, "citations": [{"ids": [{"source": "PubMed", "value": "28492532"}]}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NC_000023.10:g.(?_69080668)_(69177002_?)dup"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "EDA"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "Hypohidrotic X-linked ectodermal dysplasia"}}], "xrefs": [{"db": "MedGen", "id": "C0162359", "type": "CUI"}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "28492532"}], "type": "general"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000554988", "version": 1, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2017-12-26"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "uncertain significance", "date_last_evaluated": "2017-08-07"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000471419", "version": 1, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "NC_000017.10:g.(?_56769999)_(56774226_?)dup"}}], "attributes": [{"type": "HGVS, genomic, top level, previous", "value": "NC_000017.10:g.(?_56769999)_(56774226_?)dup", "integer_value": 37}], "cytogenic_locations": ["17q22"], "sequence_locations": [{"assembly": "GRCh38", "chr": "17", "accession": "NC_000017.11", "inner_start": 58692638, "inner_stop": 58696865, "display_start": 58692638, "display_stop": 58696865, "variant_length": 4228, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "17", "accession": "NC_000017.10", "inner_start": 56769999, "inner_stop": 56774226, "display_start": 56769999, "display_stop": 56774226, "variant_length": 4228, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "RAD51 paralog C"}}], "symbols": [{"value": {"type": "Preferred", "value": "RAD51C"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "17", "accession": "NC_000017.11", "start": 58692573, "stop": 58735611, "display_start": 58692573, "display_stop": 58735611, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "17", "accession": "NC_000017.10", "start": 56769962, "stop": 56811691, "display_start": 56769962, "display_stop": 56811691, "strand": "+", "variant_length": 41730, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "5889"}, {"db": "OMIM", "id": "602774", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:9820"}]}], "id": 467050}], "names": [{"value": {"type": "Preferred", "value": "NC_000017.10:g.(?_56769999)_(56774226_?)dup"}}], "id": 471419}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Fanconi anemia complementation group O"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0013248"}]}], "symbols": [{"value": {"type": "Alternate", "value": "FANCO"}, "xrefs": [{"db": "OMIM", "id": "613390", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors \u2013 particularly of the head and neck, skin, and genitourinary tract \u2013 are more common in individuals with FA."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1401"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301575"}, {"source": "BookShelf", "value": "NBK1401"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "20301753"}, {"source": "BookShelf", "value": "NBK5192"}], "type": "review", "abbrev": "GeneReviews"}, {"type": "practice guideline", "abbrev": "FARF, 2008", "url": "http://www.fanconi.org/images/uploads/other/Guidelines_for_Diagnosis_and_Management.pdf", "citation_text": "Fanconi Anemia Research Fund, Guidelines for Diagnosis and Management, 2008"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0013248"}, {"db": "MedGen", "id": "C3150653"}, {"db": "Orphanet", "id": "84"}, {"db": "OMIM", "id": "613390", "type": "MIM"}]}], "id": 1880}, "date_created": "2017-12-26", "date_last_updated": "2022-04-23", "id": 1289734}, "record_status": "current", "title": "NC_000017.10:g.(?_56769999)_(56774226_?)dup AND Fanconi anemia complementation group O", "clinvar_assertions": [{"id": 1242530, "submission_id": {"local_key": "2437450|MedGen:C3150653", "submitter": "Invitae", "submitted_assembly": "GRCh37", "submitter_date": "2017-10-05"}, "clinvar_accession": {"acc": "SCV000649991", "version": 1, "type": "SCV", "date_updated": "2017-12-26", "date_created": "2017-12-26", "org_id": "500031", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["uncertain significance"], "comments": [{"text": "This variant is a gross duplication of the genomic region encompassing exons 1-3 of the RAD51C gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 3 of the RAD51C gene. The exact location of this variant in the genome is unknown. Duplication of exons 1-3 has not been reported in the literature in individuals with RAD51C-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.", "type": "public"}], "date_last_evaluated": "2017-08-07"}], "external_ids": [{"db": "Invitae", "id": "2437450"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Invitae Variant Classification Sherloc (09022015)"}, "citations": [{"ids": [{"source": "PubMed", "value": "28492532"}]}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NC_000017.10:g.(?_56769999)_(56774226_?)dup"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "RAD51C"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MedGen", "id": "C3150653", "type": "CUI"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000633513", "version": 1, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2018-05-28"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "pathogenic", "date_last_evaluated": "2018-01-04"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000528365", "version": 1, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "NC_000023.10:g.(?_68890034)_(69177002_?)dup"}}], "attributes": [{"type": "HGVS, genomic, top level, previous", "value": "NC_000023.10:g.(?_68890034)_(69177002_?)dup", "integer_value": 37}], "cytogenic_locations": ["Xq13.1"], "sequence_locations": [{"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "inner_start": 68890034, "inner_stop": 69177002, "display_start": 68890034, "display_stop": 69177002, "variant_length": 286969, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "ectodysplasin A"}}], "symbols": [{"value": {"type": "Preferred", "value": "EDA"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 69616113, "stop": 70039472, "display_start": 69616113, "display_stop": 70039472, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 68835910, "stop": 69259321, "display_start": 68835910, "display_stop": 69259321, "strand": "+", "variant_length": 423412, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "1896"}, {"db": "OMIM", "id": "300451", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:3157"}]}], "id": 534391}], "names": [{"value": {"type": "Preferred", "value": "NC_000023.10:g.(?_68890034)_(69177002_?)dup"}}], "id": 528365}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Hypohidrotic X-linked ectodermal dysplasia"}, "xrefs": [{"db": "Genetic Alliance", "id": "Hypohidrotic+ectodermal+dysplasia+X-linked/3658"}, {"db": "SNOMED CT", "id": "239007005"}]}, {"value": {"type": "Alternate", "value": "ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Anhidrotic ectodermal dysplasia X-linked"}}, {"value": {"type": "Alternate", "value": "Christ Siemens Touraine syndrome"}}, {"value": {"type": "Alternate", "value": "Ectodermal dysplasia 1"}}, {"value": {"type": "Alternate", "value": "ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}, {"db": "OMIM", "id": "300451.0001", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0002", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0003", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0004", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0005", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0006", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0007", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0008", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0009", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0010", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0011", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0012", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0013", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0016", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0017", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0019", "type": "Allelic variant"}, {"db": "OMIM", "id": "300451.0023", "type": "Allelic variant"}]}, {"value": {"type": "Alternate", "value": "CST syndrome"}}, {"value": {"type": "Alternate", "value": "Ectodermal dysplasia 1, anhidrotic"}}, {"value": {"type": "Alternate", "value": "Christ-Siemans-Touraine syndrome"}}], "symbols": [{"value": {"type": "Preferred", "value": "XHED"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "EDA1"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "ED1"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "EDA"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "XLHED"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "HED1"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "ECTD1"}, "xrefs": [{"db": "OMIM", "id": "305100", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow-growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, and at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1112"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "10427"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301291"}, {"source": "BookShelf", "value": "NBK1112"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0010585"}, {"db": "MedGen", "id": "C0162359"}, {"db": "Orphanet", "id": "181"}, {"db": "Orphanet", "id": "238468"}, {"db": "OMIM", "id": "305100", "type": "MIM"}]}], "id": 6534}, "date_created": "2018-05-28", "date_last_updated": "2022-04-23", "id": 1494467}, "record_status": "current", "title": "NC_000023.10:g.(?_68890034)_(69177002_?)dup AND Hypohidrotic X-linked ectodermal dysplasia", "clinvar_assertions": [{"id": 1464200, "submission_id": {"local_key": "3424432|MedGen:C0162359", "submitter": "Invitae", "submitted_assembly": "GRCh37", "submitter_date": "2018-04-02"}, "clinvar_accession": {"acc": "SCV000754750", "version": 1, "type": "SCV", "date_updated": "2018-05-28", "date_created": "2018-05-28", "org_id": "500031", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["pathogenic"], "citations": [{"ids": [{"source": "PubMed", "value": "24689965"}]}, {"ids": [{"source": "PubMed", "value": "27305980"}]}], "comments": [{"text": "This variant is a gross duplication of the genomic region encompassing exon 2 of the EDA gene. While the exact position of the duplicated exon cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. Duplication of exon 2 has been reported in individuals affected with X-linked hypohidrotic ectodermal dysplasia (PMID: 27305980, 24689965). Sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). For these reasons, this variant has been classified as Pathogenic."}], "date_last_evaluated": "2018-01-04"}], "external_ids": [{"db": "Invitae", "id": "3424432"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Invitae Variant Classification Sherloc (09022015)"}, "citations": [{"ids": [{"source": "PubMed", "value": "28492532"}]}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NC_000023.10:g.(?_68890034)_(69177002_?)dup"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "EDA"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MedGen", "id": "C0162359", "type": "CUI"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000638336", "version": 1, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2018-05-28"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "uncertain significance", "date_last_evaluated": "2017-10-12"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000531812", "version": 1, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "NC_000004.11:g.(?_77116840)_(77134716_?)dup"}}], "attributes": [{"type": "HGVS, genomic, top level, previous", "value": "NC_000004.11:g.(?_77116840)_(77134716_?)dup", "integer_value": 37}], "cytogenic_locations": ["4q21.1"], "sequence_locations": [{"assembly": "GRCh38", "chr": "4", "accession": "NC_000004.12", "inner_start": 76195687, "inner_stop": 76213563, "display_start": 76195687, "display_stop": 76213563, "variant_length": 17877, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "4", "accession": "NC_000004.11", "inner_start": 77116840, "inner_stop": 77134716, "display_start": 77116840, "display_stop": 77134716, "variant_length": 17877, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "scavenger receptor class B member 2"}}], "symbols": [{"value": {"type": "Preferred", "value": "SCARB2"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "4", "accession": "NC_000004.12", "start": 76158737, "stop": 76234532, "display_start": 76158737, "display_stop": 76234532, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "4", "accession": "NC_000004.11", "start": 77079889, "stop": 77135051, "display_start": 77079889, "display_stop": 77135051, "strand": "-", "variant_length": 55163, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "950"}, {"db": "OMIM", "id": "602257", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:1665"}]}], "id": 519942}], "names": [{"value": {"type": "Preferred", "value": "NC_000004.11:g.(?_77116840)_(77134716_?)dup"}}], "id": 531812}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Progressive myoclonic epilepsy"}, "xrefs": [{"db": "Genetic Alliance", "id": "Progressive+myoclonic+epilepsy/9622"}, {"db": "SNOMED CT", "id": "267581004"}]}, {"value": {"type": "Alternate", "value": "Myoclonic Epilepsies, Progressive"}}, {"value": {"type": "Alternate", "value": "Familial progressive myoclonic epilepsy"}}, {"value": {"type": "Alternate", "value": "Progressive myoclonus epilepsy"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0020074"}, {"db": "SNOMED CT", "id": "267581004"}]}, {"value": {"type": "Alternate", "value": "Myoclonus epilepsy"}}], "xrefs": [{"db": "MONDO", "id": "MONDO:0020074"}, {"db": "MedGen", "id": "C0751778"}, {"db": "Orphanet", "id": "308"}, {"db": "OMIM", "id": "PS254800", "type": "Phenotypic series"}]}], "id": 13597}, "date_created": "2018-05-28", "date_last_updated": "2022-04-23", "id": 1499290}, "record_status": "current", "title": "NC_000004.11:g.(?_77116840)_(77134716_?)dup AND Progressive myoclonic epilepsy", "clinvar_assertions": [{"id": 1469566, "submission_id": {"local_key": "2496472|MedGen:C0751778", "submitter": "Invitae", "submitted_assembly": "GRCh37", "submitter_date": "2018-04-02"}, "clinvar_accession": {"acc": "SCV000759831", "version": 1, "type": "SCV", "date_updated": "2018-05-28", "date_created": "2018-05-28", "org_id": "500031", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["uncertain significance"], "comments": [{"text": "This variant is a gross duplication of the genomic region encompassing exons 1-2 of the SCARB2 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the SCARB2 gene. The exact location of this variant in the genome is unknown. Duplication of exons 1-2 has not been reported in the literature in individuals with a SCARB2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this duplication is currently unknown. In summary, the genomic location of this duplication is unknown and the impact of this variant on SCARB2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance."}], "date_last_evaluated": "2017-10-12"}], "external_ids": [{"db": "Invitae", "id": "2496472"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Invitae Variant Classification Sherloc (09022015)"}, "citations": [{"ids": [{"source": "PubMed", "value": "28492532"}]}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NC_000004.11:g.(?_77116840)_(77134716_?)dup"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "SCARB2"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MedGen", "id": "C0751778", "type": "CUI"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000638545", "version": 1, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2018-05-28"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "uncertain significance", "date_last_evaluated": "2017-09-13"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000531989", "version": 1, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "NC_000002.11:g.(?_233194517)_(233198703_?)dup"}}], "attributes": [{"type": "HGVS, genomic, top level, previous", "value": "NC_000002.11:g.(?_233194517)_(233198703_?)dup", "integer_value": 37}], "cytogenic_locations": ["2q37.1"], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "inner_start": 232329807, "inner_stop": 232333993, "display_start": 232329807, "display_stop": 232333993, "variant_length": 4187, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "inner_start": 233194517, "inner_stop": 233198703, "display_start": 233194517, "display_stop": 233198703, "variant_length": 4187, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "DIS3 like 3'-5' exoribonuclease 2"}}], "symbols": [{"value": {"type": "Preferred", "value": "DIS3L2"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 231961713, "stop": 232344350, "display_start": 231961713, "display_stop": 232344350, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 232826292, "stop": 233208677, "display_start": 232826292, "display_stop": 233208677, "strand": "+", "variant_length": 382386, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "129563"}, {"db": "OMIM", "id": "614184", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:28648"}]}], "id": 516316}], "names": [{"value": {"type": "Preferred", "value": "NC_000002.11:g.(?_233194517)_(233198703_?)dup"}}], "id": 531989}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Perlman syndrome"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0009965"}]}, {"value": {"type": "Alternate", "value": "Renal hamartomas nephroblastomatosis and fetal gigantism"}, "xrefs": [{"db": "Genetic Alliance", "id": "Renal+hamartomas+nephroblastomatosis+and+fetal+gigantism/6206"}]}, {"value": {"type": "Alternate", "value": "Nephroblastomatosis fetal ascites macrosomia and wilms tumor"}}], "symbols": [{"value": {"type": "Preferred", "value": "PRLMNS"}, "xrefs": [{"db": "OMIM", "id": "267000", "type": "MIM"}]}], "attributes": [{"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "3936"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301471"}, {"source": "BookShelf", "value": "NBK1294"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0009965"}, {"db": "MedGen", "id": "C0796113"}, {"db": "Orphanet", "id": "2849"}, {"db": "OMIM", "id": "267000", "type": "MIM"}]}], "id": 7919}, "date_created": "2018-05-28", "date_last_updated": "2022-04-23", "id": 1499499}, "record_status": "current", "title": "NC_000002.11:g.(?_233194517)_(233198703_?)dup AND Perlman syndrome", "clinvar_assertions": [{"id": 1469804, "submission_id": {"local_key": "2674743|MedGen:C0796113", "submitter": "Invitae", "submitted_assembly": "GRCh37", "submitter_date": "2018-04-02"}, "clinvar_accession": {"acc": "SCV000760069", "version": 1, "type": "SCV", "date_updated": "2018-05-28", "date_created": "2018-05-28", "org_id": "500031", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["uncertain significance"], "comments": [{"text": "This variant is a gross duplication of the genomic region encompassing exons 15-21 of the DIS3L2 gene. The 5' boundary is likely confined to intron 14. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The exact location of this variant in the genome is unknown. Duplication of exons 15-21 has not been reported in the literature in individuals with DIS3L2-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on DIS3L2 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance."}], "date_last_evaluated": "2017-09-13"}], "external_ids": [{"db": "Invitae", "id": "2674743"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Invitae Variant Classification Sherloc (09022015)"}, "citations": [{"ids": [{"source": "PubMed", "value": "28492532"}]}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NC_000002.11:g.(?_233194517)_(233198703_?)dup"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "DIS3L2"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MedGen", "id": "C0796113", "type": "CUI"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000640484", "version": 3, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2018-05-28"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "pathogenic", "date_last_evaluated": "2018-08-14"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000533385", "version": 2, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "NC_000023.10:g.(?_103031893)_(103045546_?)dup"}}], "attributes": [{"type": "HGVS, genomic, top level, previous", "value": "NC_000023.10:g.(?_103031893)_(103045546_?)dup", "integer_value": 37}], "cytogenic_locations": ["Xq22.2"], "sequence_locations": [{"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "inner_start": 103031893, "inner_stop": 103045546, "display_start": 103031893, "display_stop": 103045546, "variant_length": 13654, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "proteolipid protein 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "PLP1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 103776506, "stop": 103792619, "display_start": 103776506, "display_stop": 103792619, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 103031438, "stop": 103047547, "display_start": 103031438, "display_stop": 103047547, "strand": "+", "variant_length": 16110, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "5354"}, {"db": "OMIM", "id": "300401", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:9086"}]}], "id": 534374}], "names": [{"value": {"type": "Preferred", "value": "NC_000023.10:g.(?_103031893)_(103045546_?)dup"}}], "id": 533385}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Hereditary spastic paraplegia 2"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0010733"}]}, {"value": {"type": "Alternate", "value": "SPASTIC PARAPLEGIA 2, X-LINKED"}, "xrefs": [{"db": "OMIM", "id": "312920", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Spastic paraplegia 2"}, "xrefs": [{"db": "Genetic Alliance", "id": "Spastic+paraplegia+2/6686"}]}], "symbols": [{"value": {"type": "Preferred", "value": "SPG2"}, "xrefs": [{"db": "OMIM", "id": "312920", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "SPPX2"}, "xrefs": [{"db": "OMIM", "id": "312920", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "PLP1 disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Heterozygous females may manifest mild-to-moderate signs of the disease."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1182"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "4923"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301361"}, {"source": "BookShelf", "value": "NBK1182"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0010733"}, {"db": "MedGen", "id": "C1839264"}, {"db": "Orphanet", "id": "99015"}, {"db": "OMIM", "id": "312920", "type": "MIM"}]}], "id": 3068}, "date_created": "2018-05-28", "date_last_updated": "2022-04-23", "id": 1501438}, "record_status": "current", "title": "NC_000023.10:g.(?_103031893)_(103045546_?)dup AND Hereditary spastic paraplegia 2", "clinvar_assertions": [{"id": 1471811, "submission_id": {"local_key": "1003803|MedGen:C1839264", "submitter": "Invitae", "submitted_assembly": "GRCh37", "submitter_date": "2019-03-28"}, "clinvar_accession": {"acc": "SCV000762076", "version": 3, "type": "SCV", "date_updated": "2019-08-13", "date_created": "2018-05-28", "org_id": "500031", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["pathogenic"], "citations": [{"ids": [{"source": "PubMed", "value": "10319885"}]}, {"ids": [{"source": "PubMed", "value": "9633722"}]}, {"ids": [{"source": "PubMed", "value": "8659540"}]}, {"ids": [{"source": "PubMed", "value": "23347225"}]}, {"ids": [{"source": "PubMed", "value": "10417279"}]}], "comments": [{"text": "A gross duplication of the genomic region encompassing the full coding sequence of the PLP1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. Duplication of PLP1 is clearly defined as a Pelizaeus-Merzbacher disease causative allele and is the most common cause of disease in affected individuals (PMID: 9633722, 10417279, 8659540, 10319885, 23347225). For these reasons, this variant has been classified as Pathogenic."}], "date_last_evaluated": "2018-08-14"}], "external_ids": [{"db": "Invitae", "id": "1003803"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Invitae Variant Classification Sherloc (09022015)"}, "citations": [{"ids": [{"source": "PubMed", "value": "28492532"}]}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NC_000023.10:g.(?_103031893)_(103045546_?)dup"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "PLP1"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "Spastic paraplegia 2"}}], "xrefs": [{"db": "MedGen", "id": "C1839264", "type": "CUI"}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "28492532"}], "type": "general"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000000235", "version": 4, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "1996-11-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In an individual with prolidase deficiency (170100) who was asymptomatic at age 11 years, Ledoux et al. (1996) demonstrated compound heterozygosity for a G-to-A transition at nucleotide 551 in exon 8 (R184Q) and a G-to-A transition of nucleotide 833 in exon 123 (G278D; 613230.0004) in the PEPD gene. To assess the biochemical phenotypes of these and 2 previously identified PEPD mutations (G448R, 613230.0005 and E452DEL, 613230.0006), they designed a transient expression system for prolidase in COS-1 cells. The enzyme was expressed as a fusion protein carrying an N-terminal tag, allowing its immunologic discrimination from the endogenous enzyme with a monoclonal antibody. Expression of the R184Q mutation produced 7.4% of control enzymatic activity, whereas the expression of the other 3 mutations produced inactive enzymes. Western analysis of the R184Q, G278D, and G448R prolidases revealed stable immunoreactive material whereas the E452DEL prolidase was not detectable. Pulse-chase metabolic labeling of cells followed by immunoprecipitation revealed that the E452DEL mutant protein was synthesized but had an increased rate of degradation."}, "citations": [{"ids": [{"source": "PubMed", "value": "8900231"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000000211", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_000285.4(PEPD):c.551G>A (p.Arg184Gln)"}}], "canonical_spdi": "NC_000019.10:33464059:C:T", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001166057.2:c.359G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001166056.2:c.548+13986G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_000285.4:c.551G>A"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_013358.1:g.62834G>A"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_013358.2:g.62834G>A"}, {"type": "HGVS, genomic, top level", "value": "NC_000019.10:g.33464060C>T", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000019.9:g.33954966C>T", "integer_value": 37}, {"type": "HGVS, protein", "value": "P12955:p.Arg184Gln"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001159529.1:p.Arg120Gln"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000276.2:p.Arg184Gln"}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001166056.2:c.548+13986G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_000285.4:c.551G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001166057.2:c.359G>A"}]}, {"type": "ProteinChange1LetterCode", "value": "R120Q"}, {"type": "ProteinChange1LetterCode", "value": "R184Q"}, {"type": "ProteinChange3LetterCode", "value": "ARG184GLN"}], "cytogenic_locations": ["19q13.11"], "sequence_locations": [{"assembly": "GRCh38", "chr": "19", "accession": "NC_000019.10", "start": 33464060, "stop": 33464060, "display_start": 33464060, "display_stop": 33464060, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 33464060, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}, {"assembly": "GRCh37", "chr": "19", "accession": "NC_000019.9", "start": 33954966, "stop": 33954966, "display_start": 33954966, "display_stop": 33954966, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 33954966, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "peptidase D"}}], "symbols": [{"value": {"type": "Preferred", "value": "PEPD"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "19", "accession": "NC_000019.10", "start": 33386950, "stop": 33521791, "display_start": 33386950, "display_stop": 33521791, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "19", "accession": "NC_000019.9", "start": 33877854, "stop": 34012798, "display_start": 33877854, "display_stop": 34012798, "strand": "-", "variant_length": 134945, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "5184"}, {"db": "OMIM", "id": "613230", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:8840"}]}], "xrefs": [{"db": "UniProtKB", "id": "P12955#VAR_011614"}, {"db": "OMIM", "id": "613230.0003", "type": "Allelic variant"}, {"db": "dbSNP", "id": "121917722", "type": "rs"}], "id": 15250}], "names": [{"value": {"type": "Preferred", "value": "NM_000285.4(PEPD):c.551G>A (p.Arg184Gln)"}}], "xrefs": [{"db": "ClinGen", "id": "CA214913"}], "id": 211}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Prolidase deficiency"}, "xrefs": [{"db": "Genetic Alliance", "id": "Prolidase+deficiency/5991"}, {"db": "MONDO", "id": "MONDO:0008221"}]}], "attributes": [{"value": {"type": "public definition", "value": "Prolidase deficiency is characterized by skin lesions (typically severe, chronic, recalcitrant, and painful skin ulcers of the lower extremities and telangiectasias of the face and hands), recurrent infections (particularly of the skin and respiratory tract), dysmorphic facial features, variable intellectual disability, and hepatomegaly with elevated liver enzymes and splenomegaly. Anemia, thrombocytopenia, hypergammaglobulinemia, and hypocomplementemia are common. An association between systemic lupus erythematosus (SLE) and prolidase deficiency has been described."}, "xrefs": [{"db": "GeneReviews", "id": "NBK299584"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "7473"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "26110198"}, {"source": "BookShelf", "value": "NBK299584"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0008221"}, {"db": "MedGen", "id": "C0268532"}, {"db": "Orphanet", "id": "742"}, {"db": "OMIM", "id": "170100", "type": "MIM"}]}], "id": 70}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 57738}, "record_status": "current", "title": "NM_000285.4(PEPD):c.551G>A (p.Arg184Gln) AND Prolidase deficiency", "clinvar_assertions": [{"id": 20379, "submission_id": {"local_key": "613230.0003_PROLIDASE DEFICIENCY", "submitter": "OMIM", "title": "PEPD, ARG184GLN_PROLIDASE DEFICIENCY", "submitter_date": "2015-05-12"}, "clinvar_accession": {"acc": "SCV000020379", "version": 2, "type": "SCV", "date_updated": "2015-05-18", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "1996-11-01"}], "external_ids": [{"db": "OMIM", "id": "613230.0003", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In an individual with prolidase deficiency (170100) who was asymptomatic at age 11 years, Ledoux et al. (1996) demonstrated compound heterozygosity for a G-to-A transition at nucleotide 551 in exon 8 (R184Q) and a G-to-A transition of nucleotide 833 in exon 123 (G278D; 613230.0004) in the PEPD gene. To assess the biochemical phenotypes of these and 2 previously identified PEPD mutations (G448R, 613230.0005 and E452DEL, 613230.0006), they designed a transient expression system for prolidase in COS-1 cells. The enzyme was expressed as a fusion protein carrying an N-terminal tag, allowing its immunologic discrimination from the endogenous enzyme with a monoclonal antibody. Expression of the R184Q mutation produced 7.4% of control enzymatic activity, whereas the expression of the other 3 mutations produced inactive enzymes. Western analysis of the R184Q, G278D, and G448R prolidases revealed stable immunoreactive material whereas the E452DEL prolidase was not detectable. Pulse-chase metabolic labeling of cells followed by immunoprecipitation revealed that the E452DEL mutant protein was synthesized but had an increased rate of degradation."}, "citations": [{"ids": [{"source": "PubMed", "value": "8900231"}]}], "xrefs": [{"db": "OMIM", "id": "170100", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "PEPD, ARG184GLN"}}], "attributes": [{"type": "NonHGVS", "value": "ARG184GLN"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "PEPD"}}]}], "xrefs": [{"db": "OMIM", "id": "613230.0003", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "PROLIDASE DEFICIENCY"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000001241", "version": 3, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2001-09-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Hampf et al. (2001) reported a case of steroid 11-beta-hydroxylase deficiency (202010) caused by an unequal crossover of the genes encoding aldosterone synthase (CYP11B2; 124080) and 11-beta-hydroxylase (CYP11B1). CYP11B1 and CYP11B2 are located on chromosome 8q24 approximately 45 kb apart from each other. The investigated genetic recombination deleted the normal alleles of the 2 genes and created a chimeric fusion gene, which consists of the promoter and exons 1 through 4 of the CYP11B2 gene plus intron 4 through exon 9 of the CYP11B1 gene. This recombination event subordinated any remaining CYP11B1 activity of the chimeric enzyme to the control mechanisms of CYP11B2, the expression of which is mainly regulated by angiotensin II (see 106150) and potassium. Normally the CYP11B1 activity is controlled by ACTH. Furthermore, by applying a minigene expression method, Hampf et al. (2001) demonstrated a point mutation in intron 3 (IVS3+16G-T; 610613.0013) of the patient's second CYP11B1 allele that radically diminished proper splicing of the pre-mRNA by giving rise to a new, highly preferred donor splice site."}, "citations": [{"ids": [{"source": "PubMed", "value": "11549691"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000001182", "version": 2, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "CYP11B1, CYP11B1/CYP11B2 CHIMERA"}}, {"value": {"type": "Alternate", "value": "CYP11B1, CYP11B1/CYP11B2 CHIMERA"}, "xrefs": [{"db": "OMIM", "id": "610613.0012", "type": "Allelic variant"}]}], "cytogenic_locations": ["8q21"], "measure_relationship": [{"type": "asserted, but not computed", "names": [{"value": {"type": "Preferred", "value": "cytochrome P450 family 11 subfamily B member 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "CYP11B1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "8", "accession": "NC_000008.11", "start": 142872357, "stop": 142879825, "display_start": 142872357, "display_stop": 142879825, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "8", "accession": "NC_000008.10", "start": 143953772, "stop": 143961235, "display_start": 143953772, "display_stop": 143961235, "strand": "-", "variant_length": 7464, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "1584"}, {"db": "OMIM", "id": "610613", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:2591"}]}], "xrefs": [{"db": "OMIM", "id": "610613.0012", "type": "Allelic variant"}], "id": 16221}], "names": [{"value": {"type": "Preferred", "value": "CYP11B1, CYP11B1/CYP11B2 CHIMERA"}}], "id": 1182}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Deficiency of steroid 11-beta-monooxygenase"}, "xrefs": [{"db": "Genetic Alliance", "id": "Deficiency+of+steroid+11-beta-monooxygenase/8204"}, {"db": "SNOMED CT", "id": "124214007"}]}, {"value": {"type": "Alternate", "value": "ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY"}, "xrefs": [{"db": "OMIM", "id": "202010", "type": "MIM"}, {"db": "OMIM", "id": "610613.0001", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0003", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0004", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0005", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0006", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0007", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0008", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0009", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0010", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0011", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0012", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0013", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0014", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0015", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0016", "type": "Allelic variant"}, {"db": "OMIM", "id": "610613.0017", "type": "Allelic variant"}]}, {"value": {"type": "Alternate", "value": "11-beta-hydroxylase deficiency"}}, {"value": {"type": "Alternate", "value": "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0008729"}]}, {"value": {"type": "Alternate", "value": "Adrenal hyperplasia IV"}}, {"value": {"type": "Alternate", "value": "Adrenal hyperplasia 4"}}, {"value": {"type": "Alternate", "value": "Steroid 11-beta-hydroxylase deficiency"}}, {"value": {"type": "Alternate", "value": "11-alpha beta-hydroxylase deficiency"}}, {"value": {"type": "Alternate", "value": "Adrenal hyperplasia hypertensive form"}}, {"value": {"type": "Alternate", "value": "P450c11b1 deficiency"}}], "symbols": [{"value": {"type": "Preferred", "value": "CYP11B1"}}], "attributes": [{"value": {"type": "disease mechanism", "value": "loss of function"}, "xrefs": [{"db": "Genetic Testing Registry (GTR)", "id": "GTR000506354"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000508723"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000528276"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000556817"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000556819"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "5658"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0008729"}, {"db": "MedGen", "id": "C0268292"}, {"db": "OMIM", "id": "202010", "type": "MIM"}]}], "id": 312}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 58744}, "record_status": "current", "title": "CYP11B1, CYP11B1/CYP11B2 CHIMERA AND Deficiency of steroid 11-beta-monooxygenase", "clinvar_assertions": [{"id": 21391, "submission_id": {"local_key": "610613.0012_ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY", "submitter": "OMIM", "title": "CYP11B1, CYP11B1/CYP11B2 CHIMERA_ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY", "submitter_date": "2022-02-22"}, "clinvar_accession": {"acc": "SCV000021391", "version": 2, "type": "SCV", "date_updated": "2022-02-26", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2001-09-01"}], "external_ids": [{"db": "OMIM", "id": "610613.0012", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Hampf et al. (2001) reported a case of steroid 11-beta-hydroxylase deficiency (202010) caused by an unequal crossover of the genes encoding aldosterone synthase (CYP11B2; 124080) and 11-beta-hydroxylase (CYP11B1). CYP11B1 and CYP11B2 are located on chromosome 8q24 approximately 45 kb apart from each other. The investigated genetic recombination deleted the normal alleles of the 2 genes and created a chimeric fusion gene, which consists of the promoter and exons 1 through 4 of the CYP11B2 gene plus intron 4 through exon 9 of the CYP11B1 gene. This recombination event subordinated any remaining CYP11B1 activity of the chimeric enzyme to the control mechanisms of CYP11B2, the expression of which is mainly regulated by angiotensin II (see 106150) and potassium. Normally the CYP11B1 activity is controlled by ACTH. Furthermore, by applying a minigene expression method, Hampf et al. (2001) demonstrated a point mutation in intron 3 (IVS3+16G-T; 610613.0013) of the patient's second CYP11B1 allele that radically diminished proper splicing of the pre-mRNA by giving rise to a new, highly preferred donor splice site."}, "citations": [{"ids": [{"source": "PubMed", "value": "11549691"}]}], "xrefs": [{"db": "OMIM", "id": "202010", "type": "MIM"}, {"db": "OMIM", "id": "124080", "type": "MIM"}, {"db": "OMIM", "id": "106150", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "CYP11B1, CYP11B1/CYP11B2 CHIMERA"}}], "attributes": [{"type": "NonHGVS", "value": "CYP11B1/CYP11B2 CHIMERA"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "CYP11B1"}}]}], "xrefs": [{"db": "OMIM", "id": "610613.0012", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000001288", "version": 5, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2006-10-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Topaz et al. (2006) identified homozygosity for a c.4483A-G transition in the SAMD9 gene, resulting in a lys1495-to-glu (K1495E) substitution, as the cause of normophosphatemic familial tumoral calcinosis (NFTC; 610455) in 5 Jewish Yemenite families. The K1495E mutation caused loss of punctate expression of a GFP-SAMD9 fusion protein after transfection in HEK293 cells, indicating that this mutation interferes with SAMD9 expression. In a screening of 92 healthy, unrelated Jewish individuals born to couples who immigrated to Israel from Yemen, Topaz et al. (2006) found 1 individual who carried both K1495E and the disease haplotype in the heterozygous state, which corresponded to a carrier rate of approximately 0.01, fitting the expected prevalence of the disease in the Israeli Jewish Yemenite population."}, "citations": [{"ids": [{"source": "PubMed", "value": "16960814"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000001229", "version": 3, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_017654.4(SAMD9):c.4483A>G (p.Lys1495Glu)"}}], "canonical_spdi": "NC_000007.14:93101614:T:C", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001193307.2:c.4483A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_017654.4:c.4483A>G"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_023419.1:g.21409A>G"}, {"type": "HGVS, genomic, top level", "value": "NC_000007.14:g.93101615T>C", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000007.13:g.92730928T>C", "integer_value": 37}, {"type": "HGVS, protein", "value": "Q5K651:p.Lys1495Glu"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001180236.1:p.Lys1495Glu"}, {"type": "HGVS, protein, RefSeq", "value": "NP_060124.2:p.Lys1495Glu"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001193307.2:c.4483A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_017654.4:c.4483A>G"}]}, {"type": "ProteinChange1LetterCode", "value": "K1495E"}, {"type": "ProteinChange3LetterCode", "value": "LYS1495GLU"}], "cytogenic_locations": ["7q21.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 93101615, "stop": 93101615, "display_start": 93101615, "display_stop": 93101615, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 93101615, "reference_allele_vcf": "T", "alternate_allele_vcf": "C"}, {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "start": 92730928, "stop": 92730928, "display_start": 92730928, "display_stop": 92730928, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 92730928, "reference_allele_vcf": "T", "alternate_allele_vcf": "C"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "sterile alpha motif domain containing 9"}}], "symbols": [{"value": {"type": "Preferred", "value": "SAMD9"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 93099518, "stop": 93117979, "display_start": 93099518, "display_stop": 93117979, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "start": 92728825, "stop": 92747335, "display_start": 92728825, "display_stop": 92747335, "strand": "-", "variant_length": 18511, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "54809"}, {"db": "OMIM", "id": "610456", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:1348"}]}], "xrefs": [{"db": "UniProtKB", "id": "Q5K651#VAR_031529"}, {"db": "OMIM", "id": "610456.0001", "type": "Allelic variant"}, {"db": "dbSNP", "id": "121918554", "type": "rs"}], "id": 16268}], "names": [{"value": {"type": "Preferred", "value": "NM_017654.4(SAMD9):c.4483A>G (p.Lys1495Glu)"}}], "xrefs": [{"db": "ClinGen", "id": "CA114859"}], "id": 1229}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Normophosphatemic familial tumoral calcinosis"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0012502"}]}, {"value": {"type": "Alternate", "value": "CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA"}, "xrefs": [{"db": "OMIM", "id": "610455", "type": "MIM"}]}], "symbols": [{"value": {"type": "Alternate", "value": "NFTC"}, "xrefs": [{"db": "OMIM", "id": "610455", "type": "MIM"}]}], "attributes": [{"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "10878"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0012502"}, {"db": "MedGen", "id": "C1864861"}, {"db": "Orphanet", "id": "53715"}, {"db": "OMIM", "id": "610455", "type": "MIM"}]}], "id": 6660}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 58791}, "record_status": "current", "title": "NM_017654.4(SAMD9):c.4483A>G (p.Lys1495Glu) AND Normophosphatemic familial tumoral calcinosis", "clinvar_assertions": [{"id": 21438, "submission_id": {"local_key": "610456.0001_TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL", "submitter": "OMIM", "title": "SAMD9, LYS1495GLU_TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL", "submitter_date": "2020-06-22"}, "clinvar_accession": {"acc": "SCV000021438", "version": 4, "type": "SCV", "date_updated": "2020-06-26", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2006-10-01"}], "external_ids": [{"db": "OMIM", "id": "610456.0001", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Topaz et al. (2006) identified homozygosity for a c.4483A-G transition in the SAMD9 gene, resulting in a lys1495-to-glu (K1495E) substitution, as the cause of normophosphatemic familial tumoral calcinosis (NFTC; 610455) in 5 Jewish Yemenite families. The K1495E mutation caused loss of punctate expression of a GFP-SAMD9 fusion protein after transfection in HEK293 cells, indicating that this mutation interferes with SAMD9 expression. In a screening of 92 healthy, unrelated Jewish individuals born to couples who immigrated to Israel from Yemen, Topaz et al. (2006) found 1 individual who carried both K1495E and the disease haplotype in the heterozygous state, which corresponded to a carrier rate of approximately 0.01, fitting the expected prevalence of the disease in the Israeli Jewish Yemenite population."}, "citations": [{"ids": [{"source": "PubMed", "value": "16960814"}]}], "xrefs": [{"db": "OMIM", "id": "610455", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "SAMD9, LYS1495GLU"}}], "attributes": [{"type": "NonHGVS", "value": "LYS1495GLU"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "SAMD9"}}]}], "xrefs": [{"db": "OMIM", "id": "610456.0001", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000005355", "version": 4, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2000-08-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "somatic", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a leukemic cells derived from a patient with juvenile myelomonocytic leukemia (JMML; 607785) and a fusion between the MLL gene on 11q and the GRAF gene on 5q, Borkhardt et al. (2000) identified in the other GRAF allele an A-to-G transition at nucleotide 1255 that resulted in the substitution of a serine for an asparagine at amino acid 417. This was thought to be a second hit in a leukemogenic process."}, "citations": [{"ids": [{"source": "PubMed", "value": "10908648"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000005052", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser)"}}], "canonical_spdi": "NC_000005.10:143041854:A:G", "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_1127t1:c.1250A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001349547.2:c.1142A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001135608.3:c.1250A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_015071.6:c.1250A>G"}, {"type": "HGVS, genomic, LRG", "value": "LRG_1127:g.276486A>G"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_016711.2:g.276486A>G"}, {"type": "HGVS, genomic, top level", "value": "NC_000005.10:g.143041855A>G", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000005.9:g.142421420A>G", "integer_value": 37}, {"type": "HGVS, non-coding", "value": "NR_146198.2:n.1635A>G"}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "LRG_1127p1:p.Asn417Ser"}, {"type": "HGVS, protein", "value": "Q9UNA1:p.Asn417Ser"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001336476.1:p.Asn381Ser"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001129080.1:p.Asn417Ser"}, {"type": "HGVS, protein, RefSeq", "value": "NP_055886.1:p.Asn417Ser"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001135608.3:c.1250A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001349547.2:c.1142A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_015071.6:c.1250A>G"}]}, {"type": "MolecularConsequence", "value": "non-coding transcript variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001619"}, {"db": "RefSeq", "id": "NR_146198.2:n.1635A>G"}]}, {"type": "ProteinChange1LetterCode", "value": "N381S"}, {"type": "ProteinChange1LetterCode", "value": "N417S"}, {"type": "ProteinChange3LetterCode", "value": "ASN417SER"}], "cytogenic_locations": ["5q31.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "start": 143041855, "stop": 143041855, "display_start": 143041855, "display_stop": 143041855, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 143041855, "reference_allele_vcf": "A", "alternate_allele_vcf": "G"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "start": 142421420, "stop": 142421420, "display_start": 142421420, "display_stop": 142421420, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 142421420, "reference_allele_vcf": "A", "alternate_allele_vcf": "G"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "Rho GTPase activating protein 26"}}], "symbols": [{"value": {"type": "Preferred", "value": "ARHGAP26"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "start": 142770377, "stop": 143229011, "display_start": 142770377, "display_stop": 143229011, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "start": 142150291, "stop": 142608571, "display_start": 142150291, "display_stop": 142608571, "strand": "+", "variant_length": 458281, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "23092"}, {"db": "OMIM", "id": "605370", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:17073"}]}], "xrefs": [{"db": "UniProtKB", "id": "Q9UNA1#VAR_013623"}, {"db": "OMIM", "id": "605370.0001", "type": "Allelic variant"}, {"db": "dbSNP", "id": "121918546", "type": "rs"}], "id": 20091}], "names": [{"value": {"type": "Preferred", "value": "NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser)"}}], "xrefs": [{"db": "ClinGen", "id": "CA117231"}], "id": 5052}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Juvenile myelomonocytic leukemia"}, "xrefs": [{"db": "Genetic Alliance", "id": "Juvenile+Myelomonocytic+Leukemia+%28JMML%29/3936"}, {"db": "Human Phenotype Ontology", "id": "HP:0012209"}, {"db": "MONDO", "id": "MONDO:0011908"}]}, {"value": {"type": "Alternate", "value": "LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC"}, "xrefs": [{"db": "OMIM", "id": "176876.0014", "type": "Allelic variant"}, {"db": "OMIM", "id": "176876.0015", "type": "Allelic variant"}, {"db": "OMIM", "id": "176876.0016", "type": "Allelic variant"}, {"db": "OMIM", "id": "176876.0017", "type": "Allelic variant"}, {"db": "OMIM", "id": "605370.0001", "type": "Allelic variant"}, {"db": "OMIM", "id": "605370.0002", "type": "Allelic variant"}, {"db": "OMIM", "id": "605370.0003", "type": "Allelic variant"}]}], "symbols": [{"value": {"type": "Preferred", "value": "JMML"}, "xrefs": [{"db": "OMIM", "id": "607785", "type": "MIM"}]}], "attributes": [{"value": {"type": "keyword", "value": "Hereditary cancer syndrome"}}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "9884"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "24493721"}], "type": "practice guideline", "abbrev": "ASCO, 2014"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0011908"}, {"db": "MedGen", "id": "C0349639"}, {"db": "Orphanet", "id": "86834"}, {"db": "OMIM", "id": "607785", "type": "MIM"}, {"db": "Human Phenotype Ontology", "id": "HP:0012209", "type": "primary"}]}], "id": 99}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 62858}, "record_status": "current", "title": "NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser) AND Juvenile myelomonocytic leukemia", "clinvar_assertions": [{"id": 25533, "submission_id": {"local_key": "605370.0001_LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC", "submitter": "OMIM", "title": "ARHGAP26, ASN417SER_LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC", "submitter_date": "2011-05-19"}, "clinvar_accession": {"acc": "SCV000025533", "version": 1, "type": "SCV", "date_updated": "2013-04-04", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2000-08-01"}], "external_ids": [{"db": "OMIM", "id": "605370.0001", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "somatic", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a leukemic cells derived from a patient with juvenile myelomonocytic leukemia (JMML; 607785) and a fusion between the MLL gene on 11q and the GRAF gene on 5q, Borkhardt et al. (2000) identified in the other GRAF allele an A-to-G transition at nucleotide 1255 that resulted in the substitution of a serine for an asparagine at amino acid 417. This was thought to be a second hit in a leukemogenic process."}, "citations": [{"ids": [{"source": "PubMed", "value": "10908648"}]}], "xrefs": [{"db": "OMIM", "id": "607785", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "ARHGAP26, ASN417SER"}}], "attributes": [{"type": "NonHGVS", "value": "ASN417SER"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "ARHGAP26"}}]}], "xrefs": [{"db": "OMIM", "id": "605370.0001", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000006031", "version": 5, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2007-12-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In affected individuals of a large Brazilian kindred with spastic paraplegia-4 (SPG4; 182601), originally reported by Starling et al. (2002), Mitne-Neto et al. (2007) identified a heterozygous tandem duplication of exons 10 through 12 of the SPAST gene. Long-range PCR and sequencing showed nonhomology of the sequences contributing to the novel fusion. The duplication was predicted to result in premature termination and disruption of enzymatic activity. Twelve of 30 mutation carriers had no clinical complaints. Among these patients, 9 of 14 female carriers had no complaints, indicating sex-dependent penetrance in this family, with women being partially protected."}, "citations": [{"ids": [{"source": "PubMed", "value": "12471215"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "17895902"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000005677", "version": 3, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "NM_014946.4(SPAST):c.1246-2896_1493+523dup"}}, {"value": {"type": "Alternate", "value": "SPAST, EX10-12DUP"}, "xrefs": [{"db": "OMIM", "id": "604277.0022", "type": "Allelic variant"}]}], "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001363875.2:c.1147-2896_1394+523dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001377959.1:c.1150-2896_1397+523dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_199436.2:c.1150-2896_1397+523dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001363823.2:c.1243-2896_1490+523dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_014946.4:c.1246-2896_1493+523dup"}, {"type": "HGVS, genomic, LRG", "value": "LRG_714:g.75057_79101dup"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_008730.1:g.75057_79101dup"}, {"type": "HGVS, genomic, top level", "value": "NC_000002.12:g.32133667_32137711dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.11:g.32358736_32362780dup", "integer_value": 37}, {"type": "HGVS, protein"}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_001363823.2:c.1243-2896_1490+523dup"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_001363875.2:c.1147-2896_1394+523dup"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_001377959.1:c.1150-2896_1397+523dup"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_014946.4:c.1246-2896_1493+523dup"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_199436.2:c.1150-2896_1397+523dup"}]}, {"type": "MolecularConsequence", "value": "splice donor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001575"}, {"db": "RefSeq", "id": "NM_001363823.2:c.1243-2896_1490+523dup"}]}, {"type": "MolecularConsequence", "value": "splice donor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001575"}, {"db": "RefSeq", "id": "NM_001363875.2:c.1147-2896_1394+523dup"}]}, {"type": "MolecularConsequence", "value": "splice donor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001575"}, {"db": "RefSeq", "id": "NM_001377959.1:c.1150-2896_1397+523dup"}]}, {"type": "MolecularConsequence", "value": "splice donor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001575"}, {"db": "RefSeq", "id": "NM_014946.4:c.1246-2896_1493+523dup"}]}, {"type": "MolecularConsequence", "value": "splice donor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001575"}, {"db": "RefSeq", "id": "NM_199436.2:c.1150-2896_1397+523dup"}]}], "cytogenic_locations": ["2p22.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 32133666, "stop": 32133667, "display_start": 32133666, "display_stop": 32133667, "variant_length": 4045, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 32133666, "reference_allele_vcf": "A", "alternate_allele_vcf": "AAACGAACATTCACATAGTTCTTACCAGTTTACAGTGTTTTTTCCACACCGTCTTCAAAATGTAAAGTTTGGTCTTCAATACATCAGTATGCTGCTAGATTTAAATACTAGGGAAAAAAAAATCAGAGAAGTTAATAATATTAACTGTCACCTCCACTAGAAGATGGTCTCCATGTGGACAGTAATATTTCTCTTGTATTATCTGTGCTAAGTAAAATCTTCTGTAAGTTTCTTTAAATATTTTAATAAATCATAGTACTTAAAATGTTCTCAATATTCTAAAGTAGTTAAAAGTAACTATAAAATAGTACCTGTTTTTCTGATCACATTTTACTTCCTATGTGAAATTTTACAAGTCGTTACTCTATTTATTTATTGATTTATTTTTTAAGACAGGGTCTGTTCTGTCGCCCAGGCTGGAGTACAGTGGCGTGATCATGGCTCACTGCAGCCTCAGCCTCCTGGGCTCAAGTGATCCTCCCACCTTAGCATCCCAAGTAGCTGGGACTATAGGCACATGCCACCATGCCCAGCTAATTTTAAAAAATTCTGGGGGGCCGAATGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGAATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCGGGGTGTGGTGGCAGGCGCCTGTAATCCCACTTACTCAGGAGGCTGAGGCAGGAGAGTTGCTTGAACCTGGGAGGCAGAGATTGCAGTGAGCCGAGACTCCATCTCAAAAAAAAAAAATTTTTTTTTGTAGTGACAAGGTGTCACTGTGTTGCCAGGGCTGGTCTCAAACTTCTGGGCTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCCTAGAATATTTGTTTCGATTATTCTAAATCTGGTGACATTTCTTTTGTTTTTAAGTTAAATCTTCAGTAAAAAGAATAAATGCCACCTAGAGGACAGAAAAATTTTTACAGTAGATTATCACAGACCTCATGACTCATTACTTTGGTGTATAAAATGGCCTTTGTATGGTGTCAGCACCTGGGAATGTCTCAAGGGGTGTTCATTGACCTTCTGGACTATCTGGAAATATTTTGATATTTATTGGCTGGGCGCGGTGGCTCATGCCTGTAATTCCAGCACCTCGGGAGGCCAAGTTAGGTGGATCACTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACTAAGTTAGTTGACTATTTGTGAAATTTCCCTCTCCAAATAGGAAAGATAGGATTGGAAACATTATTCAGAAGGAAGAAGTTTTAAAGAAGGGCAGGCTTAAAGACTATCTAATGAATTTACCAATATGGTAAAACCCCATCTTTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACCTGGGATGTTGAGGGATGAGAATCACTTGAACCCAGGAGGCAAAAGTCACAGTGAGCCGAGATTGCACCACTGCACTCCAGACTGGGCTATAGAGCAAAACTCTGTCTCAAAAAAAAAAAGGAAAAAAAAAAAAGAAATTTTGATATTTATGTGAGAATGACTTTTCACGGTGTTCTTAATAGCGCAAGTTTTGTTTAGGAGAGCACATTCCAACTTACTTGCTTCTATAAATATACCGTGTAATCTAGGGCTTAAAGAATATGTACAATGTCTTTTTCTCTCCCCTAGTCTTCCCCTTTTCTCACTAGTTATATCCTTGACTGAAGAGCTATTTCATTCTCAAGTCTTAGGAATGCAGGGTGAAGCAAAACAGATGAATTTTTAAAGCACTTAACCAGGCTGTATGAAATCACAGTCTGTTGTCTAAAATTGTAAGGGACGGTTAGTAGTACTCTCCCCTTTCTCAAACCAAATCTTTGGTTGTTTTAAGGAAGGGAAATTAAATTCCTGTGTGCTAGATTTTCAACATAAAATTTAAAAAACTGGAATAATGTTGCATTTTATGTGTATAACAGTATAATGCTTTGTTTTAGGTGGGAGAAGGAGAGAAATTGGTGAGGGCTCTTTTTGCTGTGGCTCGAGAACTTCAACCTTCTATAATTTTTATAGGTAAGAACATATTTTCCAACTAAGTTATTGACTATTTGTGAAATTTCCCTCTCCAAATAGGAAAGATACGATTGGAAACATTATTCAGAAGGAAGAAGTTTTAAAGAAGGGCAAGCTTAAAGACTATCTAATGAATTTAGTAGGACCCACTATATTAATAAGTAGTAAACTAGATTAATCTCAGATGACTCACATAGCTTGGTCTTTAATTAAAGTCTTATACTTGTATTTCCTCTAGATGAAGTTGATAGCCTTTTGTGTGAAAGAAGAGAAGGGGAGCACGATGCTAGTAGACGCCTAAAAACTGAATTTCTAATAGAATTTGATGGTGTAAGTGTTGATTATGATATTTTTAATGTGGCAGCATTTTAGTATATTTTCCTATTAAATGGCCAAGGTTAAAAATACAAATATCTTTATATTTGTTATTACTTTTCTAAATGAATTGAAAAAAGATTTTTTGCTTGTAGGTACAGTCTGCTGGAGATGACAGAGTACTTGTAATGGGTGCAACTAATAGGCCACAAGAGCTTGATGAGGCTGTTCTCAGGTAGGGAGATTTATATGGAAATACATGCATTTATTACAGACAATATTTACTCATGTGTCCATCTTACATATTATTTCCTTACTCTCAGTTTTAAGACTAAATTCACTATTTTCTTCCAGTACTATCTCTAGCCTCTTGTTACCAACTACATAAGGATTTTGAGGTCAACAGCTTGATATCAGGAGAATTAGTCTAGTAAAGGTTTAGTTACGGTTTTAGGCAAATTGGTCAGTTCTTCTGGGTTGCATTAAATTATCTTTAAACTTGAAAATTGATTCTTACCGTCTTTTATTGGGCTTCATGAGAAAATAATCAAATCAGGGTTCATGGAAAATGTGTTTTCTGTTCTTGTGTGTTTGAGCAGTTTATTCCCTTCATACTGGAAGGACGGTTTGGGTCAGCATAAAATTCTTGGGCATCCTTTCCCAAGGAATTTACAATATTGCTCCATTGTTTCTAGATTGGCTGTAGTAGTGTAAAAGTCTGAATCCAAATTGATTTTTTCAAATTTGTAAAATAACTT"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 32358735, "stop": 32358736, "display_start": 32358735, "display_stop": 32358736, "variant_length": 4045, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 32358735, "reference_allele_vcf": "A", "alternate_allele_vcf": "AAACGAACATTCACATAGTTCTTACCAGTTTACAGTGTTTTTTCCACACCGTCTTCAAAATGTAAAGTTTGGTCTTCAATACATCAGTATGCTGCTAGATTTAAATACTAGGGAAAAAAAAATCAGAGAAGTTAATAATATTAACTGTCACCTCCACTAGAAGATGGTCTCCATGTGGACAGTAATATTTCTCTTGTATTATCTGTGCTAAGTAAAATCTTCTGTAAGTTTCTTTAAATATTTTAATAAATCATAGTACTTAAAATGTTCTCAATATTCTAAAGTAGTTAAAAGTAACTATAAAATAGTACCTGTTTTTCTGATCACATTTTACTTCCTATGTGAAATTTTACAAGTCGTTACTCTATTTATTTATTGATTTATTTTTTAAGACAGGGTCTGTTCTGTCGCCCAGGCTGGAGTACAGTGGCGTGATCATGGCTCACTGCAGCCTCAGCCTCCTGGGCTCAAGTGATCCTCCCACCTTAGCATCCCAAGTAGCTGGGACTATAGGCACATGCCACCATGCCCAGCTAATTTTAAAAAATTCTGGGGGGCCGAATGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGAATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCGGGGTGTGGTGGCAGGCGCCTGTAATCCCACTTACTCAGGAGGCTGAGGCAGGAGAGTTGCTTGAACCTGGGAGGCAGAGATTGCAGTGAGCCGAGACTCCATCTCAAAAAAAAAAAATTTTTTTTTGTAGTGACAAGGTGTCACTGTGTTGCCAGGGCTGGTCTCAAACTTCTGGGCTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCCTAGAATATTTGTTTCGATTATTCTAAATCTGGTGACATTTCTTTTGTTTTTAAGTTAAATCTTCAGTAAAAAGAATAAATGCCACCTAGAGGACAGAAAAATTTTTACAGTAGATTATCACAGACCTCATGACTCATTACTTTGGTGTATAAAATGGCCTTTGTATGGTGTCAGCACCTGGGAATGTCTCAAGGGGTGTTCATTGACCTTCTGGACTATCTGGAAATATTTTGATATTTATTGGCTGGGCGCGGTGGCTCATGCCTGTAATTCCAGCACCTCGGGAGGCCAAGTTAGGTGGATCACTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACTAAGTTAGTTGACTATTTGTGAAATTTCCCTCTCCAAATAGGAAAGATAGGATTGGAAACATTATTCAGAAGGAAGAAGTTTTAAAGAAGGGCAGGCTTAAAGACTATCTAATGAATTTACCAATATGGTAAAACCCCATCTTTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACCTGGGATGTTGAGGGATGAGAATCACTTGAACCCAGGAGGCAAAAGTCACAGTGAGCCGAGATTGCACCACTGCACTCCAGACTGGGCTATAGAGCAAAACTCTGTCTCAAAAAAAAAAAGGAAAAAAAAAAAAGAAATTTTGATATTTATGTGAGAATGACTTTTCACGGTGTTCTTAATAGCGCAAGTTTTGTTTAGGAGAGCACATTCCAACTTACTTGCTTCTATAAATATACCGTGTAATCTAGGGCTTAAAGAATATGTACAATGTCTTTTTCTCTCCCCTAGTCTTCCCCTTTTCTCACTAGTTATATCCTTGACTGAAGAGCTATTTCATTCTCAAGTCTTAGGAATGCAGGGTGAAGCAAAACAGATGAATTTTTAAAGCACTTAACCAGGCTGTATGAAATCACAGTCTGTTGTCTAAAATTGTAAGGGACGGTTAGTAGTACTCTCCCCTTTCTCAAACCAAATCTTTGGTTGTTTTAAGGAAGGGAAATTAAATTCCTGTGTGCTAGATTTTCAACATAAAATTTAAAAAACTGGAATAATGTTGCATTTTATGTGTATAACAGTATAATGCTTTGTTTTAGGTGGGAGAAGGAGAGAAATTGGTGAGGGCTCTTTTTGCTGTGGCTCGAGAACTTCAACCTTCTATAATTTTTATAGGTAAGAACATATTTTCCAACTAAGTTATTGACTATTTGTGAAATTTCCCTCTCCAAATAGGAAAGATACGATTGGAAACATTATTCAGAAGGAAGAAGTTTTAAAGAAGGGCAAGCTTAAAGACTATCTAATGAATTTAGTAGGACCCACTATATTAATAAGTAGTAAACTAGATTAATCTCAGATGACTCACATAGCTTGGTCTTTAATTAAAGTCTTATACTTGTATTTCCTCTAGATGAAGTTGATAGCCTTTTGTGTGAAAGAAGAGAAGGGGAGCACGATGCTAGTAGACGCCTAAAAACTGAATTTCTAATAGAATTTGATGGTGTAAGTGTTGATTATGATATTTTTAATGTGGCAGCATTTTAGTATATTTTCCTATTAAATGGCCAAGGTTAAAAATACAAATATCTTTATATTTGTTATTACTTTTCTAAATGAATTGAAAAAAGATTTTTTGCTTGTAGGTACAGTCTGCTGGAGATGACAGAGTACTTGTAATGGGTGCAACTAATAGGCCACAAGAGCTTGATGAGGCTGTTCTCAGGTAGGGAGATTTATATGGAAATACATGCATTTATTACAGACAATATTTACTCATGTGTCCATCTTACATATTATTTCCTTACTCTCAGTTTTAAGACTAAATTCACTATTTTCTTCCAGTACTATCTCTAGCCTCTTGTTACCAACTACATAAGGATTTTGAGGTCAACAGCTTGATATCAGGAGAATTAGTCTAGTAAAGGTTTAGTTACGGTTTTAGGCAAATTGGTCAGTTCTTCTGGGTTGCATTAAATTATCTTTAAACTTGAAAATTGATTCTTACCGTCTTTTATTGGGCTTCATGAGAAAATAATCAAATCAGGGTTCATGGAAAATGTGTTTTCTGTTCTTGTGTGTTTGAGCAGTTTATTCCCTTCATACTGGAAGGACGGTTTGGGTCAGCATAAAATTCTTGGGCATCCTTTCCCAAGGAATTTACAATATTGCTCCATTGTTTCTAGATTGGCTGTAGTAGTGTAAAAGTCTGAATCCAAATTGATTTTTTCAAATTTGTAAAATAACTT"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "spastin"}}], "symbols": [{"value": {"type": "Preferred", "value": "SPAST"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 32063556, "stop": 32157637, "display_start": 32063556, "display_stop": 32157637, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 32288679, "stop": 32382705, "display_start": 32288679, "display_stop": 32382705, "strand": "+", "variant_length": 94027, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "6683"}, {"db": "OMIM", "id": "604277", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:11233"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "17895902"}], "type": "general"}], "xrefs": [{"db": "dbVar", "id": "nssv7487215"}, {"db": "dbVar", "id": "nsv1197506"}, {"db": "OMIM", "id": "604277.0022", "type": "Allelic variant"}], "comments": [{"text": "NCBI staff reviewed the sequence information reported in PubMed 17895902 supplementary figure to determine the location of this allele on the current reference sequence.", "type": "public", "datasource": "NCBI curation"}, {"text": "Genomic duplication of exons 10-12 of gene SPAST plus flanking intronic sequences.", "type": "public", "datasource": "NCBI curation"}], "id": 20716}], "names": [{"value": {"type": "Preferred", "value": "NM_014946.4(SPAST):c.1246-2896_1493+523dup"}}], "xrefs": [{"db": "ClinGen", "id": "CA10575495"}], "id": 5677}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Hereditary spastic paraplegia 4"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0008438"}]}, {"value": {"type": "Alternate", "value": "Spastic paraplegia 4, autosomal dominant"}, "xrefs": [{"db": "Genetic Alliance", "id": "Spastic+paraplegia+4/6695"}]}, {"value": {"type": "Alternate", "value": "Familial spastic paraplegia autosomal dominant 2"}}], "symbols": [{"value": {"type": "Alternate", "value": "FSP2"}, "xrefs": [{"db": "OMIM", "id": "182601", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "SPG4"}, "xrefs": [{"db": "OMIM", "id": "182601", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Spastic paraplegia 4 (SPG4; also known as SPAST-HSP) is characterized by insidiously progressive bilateral lower-limb gait spasticity. More than 50% of affected individuals have some weakness in the legs and impaired vibration sense at the ankles. Sphincter disturbances are very common. Onset is insidious, mostly in young adulthood, although symptoms may start as early as age one year and as late as age 76 years. Intrafamilial variation is considerable."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1160"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "4925"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301339"}, {"source": "BookShelf", "value": "NBK1160"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0008438"}, {"db": "MedGen", "id": "C1866855"}, {"db": "Orphanet", "id": "100985"}, {"db": "OMIM", "id": "182601", "type": "MIM"}]}], "id": 6399}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 63534}, "record_status": "current", "title": "NM_014946.4(SPAST):c.1246-2896_1493+523dup AND Hereditary spastic paraplegia 4", "clinvar_assertions": [{"id": 26213, "submission_id": {"local_key": "604277.0022_SPASTIC PARAPLEGIA 4", "submitter": "OMIM", "title": "SPAST, EX10-12DUP_SPASTIC PARAPLEGIA 4", "submitter_date": "2019-10-09"}, "clinvar_accession": {"acc": "SCV000026213", "version": 4, "type": "SCV", "date_updated": "2020-01-16", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2007-12-01"}], "external_ids": [{"db": "OMIM", "id": "604277.0022", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In affected individuals of a large Brazilian kindred with spastic paraplegia-4 (SPG4; 182601), originally reported by Starling et al. (2002), Mitne-Neto et al. (2007) identified a heterozygous tandem duplication of exons 10 through 12 of the SPAST gene. Long-range PCR and sequencing showed nonhomology of the sequences contributing to the novel fusion. The duplication was predicted to result in premature termination and disruption of enzymatic activity. Twelve of 30 mutation carriers had no clinical complaints. Among these patients, 9 of 14 female carriers had no complaints, indicating sex-dependent penetrance in this family, with women being partially protected."}, "citations": [{"ids": [{"source": "PubMed", "value": "12471215"}]}, {"ids": [{"source": "PubMed", "value": "17895902"}]}], "xrefs": [{"db": "OMIM", "id": "182601", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "SPAST, EX10-12DUP"}}], "attributes": [{"type": "NonHGVS", "value": "EX10-12DUP"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "SPAST"}}]}], "xrefs": [{"db": "OMIM", "id": "604277.0022", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "SPASTIC PARAPLEGIA 4"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000006776", "version": 2, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2008-03-15"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a 5-year-old boy with spondylocarpotarsal synostosis syndrome (SCT; 272460), Mitter et al. (2008) detected a homozygous 6010C-T transition in exon 36 of the FLNB gene, resulting in an arg2004-to-ter (R2004X) substitution. In addition to the typical findings of SCT, the boy demonstrated ossification delay of multiple epiphyses and bilateral proximal femoral epiphyseal dysplasia."}, "citations": [{"ids": [{"source": "PubMed", "value": "18257094"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000006407", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_001457.4(FLNB):c.6010C>T (p.Arg2004Ter)"}}], "canonical_spdi": "NC_000003.12:58148770:C:T", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001164319.2:c.5938C>T"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001164318.2:c.5977C>T"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001457.4:c.6010C>T"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001164317.2:c.6103C>T"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_012801.1:g.145372C>T"}, {"type": "HGVS, genomic, top level", "value": "NC_000003.12:g.58148771C>T", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000003.11:g.58134498C>T", "integer_value": 37}, {"type": "HGVS, protein, RefSeq", "value": "NP_001157791.1:p.Arg1980Ter"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001157790.1:p.Arg1993Ter"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001448.2:p.Arg2004Ter"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001157789.1:p.Arg2035Ter"}, {"type": "MolecularConsequence", "value": "nonsense", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001587"}, {"db": "RefSeq", "id": "NM_001164317.2:c.6103C>T"}]}, {"type": "MolecularConsequence", "value": "nonsense", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001587"}, {"db": "RefSeq", "id": "NM_001164318.2:c.5977C>T"}]}, {"type": "MolecularConsequence", "value": "nonsense", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001587"}, {"db": "RefSeq", "id": "NM_001164319.2:c.5938C>T"}]}, {"type": "MolecularConsequence", "value": "nonsense", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001587"}, {"db": "RefSeq", "id": "NM_001457.4:c.6010C>T"}]}, {"type": "ProteinChange1LetterCode", "value": "R1980*"}, {"type": "ProteinChange1LetterCode", "value": "R1993*"}, {"type": "ProteinChange1LetterCode", "value": "R2004*"}, {"type": "ProteinChange1LetterCode", "value": "R2035*"}, {"type": "ProteinChange3LetterCode", "value": "ARG2004TER"}], "cytogenic_locations": ["3p14.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "3", "accession": "NC_000003.12", "start": 58148771, "stop": 58148771, "display_start": 58148771, "display_stop": 58148771, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 58148771, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}, {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "start": 58134498, "stop": 58134498, "display_start": 58134498, "display_stop": 58134498, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 58134498, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "filamin B"}}], "symbols": [{"value": {"type": "Preferred", "value": "FLNB"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "3", "accession": "NC_000003.12", "start": 58008422, "stop": 58172251, "display_start": 58008422, "display_stop": 58172251, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "start": 57994126, "stop": 58157981, "display_start": 57994126, "display_stop": 58157981, "strand": "+", "variant_length": 163856, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "2317"}, {"db": "OMIM", "id": "603381", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:3755"}]}], "xrefs": [{"db": "OMIM", "id": "603381.0013", "type": "Allelic variant"}, {"db": "dbSNP", "id": "121908897", "type": "rs"}], "id": 21446}], "names": [{"value": {"type": "Preferred", "value": "NM_001457.4(FLNB):c.6010C>T (p.Arg2004Ter)"}}], "xrefs": [{"db": "ClinGen", "id": "CA253861"}], "id": 6407}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Spondylocarpotarsal synostosis syndrome"}, "xrefs": [{"db": "Genetic Alliance", "id": "Spondylocarpotarsal+synostosis+syndrome/6801"}, {"db": "MONDO", "id": "MONDO:0010094"}]}, {"value": {"type": "Alternate", "value": "Spondylocarpotarsal syndrome"}}, {"value": {"type": "Alternate", "value": "Synspondylism congenital"}}, {"value": {"type": "Alternate", "value": "Vertebral fusion with carpal coalition"}}, {"value": {"type": "Alternate", "value": "Scoliosis, congenital with unilateral unsegmented bar"}}], "symbols": [{"value": {"type": "Preferred", "value": "SCT"}, "xrefs": [{"db": "OMIM", "id": "272460", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic."}, "xrefs": [{"db": "GeneReviews", "id": "NBK2534"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301736"}, {"source": "BookShelf", "value": "NBK2534"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0010094"}, {"db": "MedGen", "id": "C1848934"}, {"db": "Orphanet", "id": "3275"}, {"db": "OMIM", "id": "272460", "type": "MIM"}]}], "id": 1773}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 64279}, "record_status": "current", "title": "NM_001457.4(FLNB):c.6010C>T (p.Arg2004Ter) AND Spondylocarpotarsal synostosis syndrome", "clinvar_assertions": [{"id": 26972, "submission_id": {"local_key": "603381.0013_SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME", "submitter": "OMIM", "title": "FLNB, ARG2004TER_SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME", "submitter_date": "2011-08-22"}, "clinvar_accession": {"acc": "SCV000026972", "version": 1, "type": "SCV", "date_updated": "2013-04-04", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2008-03-15"}], "external_ids": [{"db": "OMIM", "id": "603381.0013", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a 5-year-old boy with spondylocarpotarsal synostosis syndrome (SCT; 272460), Mitter et al. (2008) detected a homozygous 6010C-T transition in exon 36 of the FLNB gene, resulting in an arg2004-to-ter (R2004X) substitution. In addition to the typical findings of SCT, the boy demonstrated ossification delay of multiple epiphyses and bilateral proximal femoral epiphyseal dysplasia."}, "citations": [{"ids": [{"source": "PubMed", "value": "18257094"}]}], "xrefs": [{"db": "OMIM", "id": "272460", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "FLNB, ARG2004TER"}}], "attributes": [{"type": "NonHGVS", "value": "ARG2004TER"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "FLNB"}}]}], "xrefs": [{"db": "OMIM", "id": "603381.0013", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000006777", "version": 3, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2008-05-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In an Italian girl with spondylocarpotarsal synostosis syndrome (SCT; 272460), born of consanguineous parents, Brunetti-Pierri et al. (2008) identified a homozygous 5548G-T transversion in the FLNB gene, resulting in a gly1850-to-ter (G1850X) substitution. She had short stature, scoliosis, short trunk, delayed bone age, vertebral fusions, and capitate-hamate fusion. She did not have facial dysmorphic features. Growth hormone (GH) deficiency was documented, but there was no response to GH administration. MRI scan did not show any abnormality of the hypothalamo-pituitary area, but there was platybasia and basilar impression, stenosis of the foramen magnum, but no signs of medullary compression at the cervicomedullary junction. A younger brother, who was heterozygous for the mutation, had short stature and transient GH deficiency."}, "citations": [{"ids": [{"source": "PubMed", "value": "18386804"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000006408", "version": 2, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_001457.4(FLNB):c.5548G>T (p.Gly1850Ter)"}}], "canonical_spdi": "NC_000003.12:58146042:G:T", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001164319.2:c.5476G>T"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001164318.2:c.5515G>T"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001457.4:c.5548G>T"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001164317.2:c.5641G>T"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_012801.1:g.142644G>T"}, {"type": "HGVS, genomic, top level", "value": "NC_000003.12:g.58146043G>T", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000003.11:g.58131770G>T", "integer_value": 37}, {"type": "HGVS, protein, RefSeq", "value": "NP_001157791.1:p.Gly1826Ter"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001157790.1:p.Gly1839Ter"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001448.2:p.Gly1850Ter"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001157789.1:p.Gly1881Ter"}, {"type": "MolecularConsequence", "value": "nonsense", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001587"}, {"db": "RefSeq", "id": "NM_001164317.2:c.5641G>T"}]}, {"type": "MolecularConsequence", "value": "nonsense", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001587"}, {"db": "RefSeq", "id": "NM_001164318.2:c.5515G>T"}]}, {"type": "MolecularConsequence", "value": "nonsense", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001587"}, {"db": "RefSeq", "id": "NM_001164319.2:c.5476G>T"}]}, {"type": "MolecularConsequence", "value": "nonsense", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001587"}, {"db": "RefSeq", "id": "NM_001457.4:c.5548G>T"}]}, {"type": "ProteinChange1LetterCode", "value": "G1826*"}, {"type": "ProteinChange1LetterCode", "value": "G1839*"}, {"type": "ProteinChange1LetterCode", "value": "G1850*"}, {"type": "ProteinChange1LetterCode", "value": "G1881*"}, {"type": "ProteinChange3LetterCode", "value": "GLY1850TER"}], "cytogenic_locations": ["3p14.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "3", "accession": "NC_000003.12", "start": 58146043, "stop": 58146043, "display_start": 58146043, "display_stop": 58146043, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 58146043, "reference_allele_vcf": "G", "alternate_allele_vcf": "T"}, {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "start": 58131770, "stop": 58131770, "display_start": 58131770, "display_stop": 58131770, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 58131770, "reference_allele_vcf": "G", "alternate_allele_vcf": "T"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "filamin B"}}], "symbols": [{"value": {"type": "Preferred", "value": "FLNB"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "3", "accession": "NC_000003.12", "start": 58008422, "stop": 58172251, "display_start": 58008422, "display_stop": 58172251, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "start": 57994126, "stop": 58157981, "display_start": 57994126, "display_stop": 58157981, "strand": "+", "variant_length": 163856, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "2317"}, {"db": "OMIM", "id": "603381", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:3755"}]}], "xrefs": [{"db": "OMIM", "id": "603381.0014", "type": "Allelic variant"}, {"db": "dbSNP", "id": "121908898", "type": "rs"}], "id": 21447}], "names": [{"value": {"type": "Preferred", "value": "NM_001457.4(FLNB):c.5548G>T (p.Gly1850Ter)"}}], "xrefs": [{"db": "ClinGen", "id": "CA253863"}], "id": 6408}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Spondylocarpotarsal synostosis syndrome"}, "xrefs": [{"db": "Genetic Alliance", "id": "Spondylocarpotarsal+synostosis+syndrome/6801"}, {"db": "MONDO", "id": "MONDO:0010094"}]}, {"value": {"type": "Alternate", "value": "Spondylocarpotarsal syndrome"}}, {"value": {"type": "Alternate", "value": "Synspondylism congenital"}}, {"value": {"type": "Alternate", "value": "Vertebral fusion with carpal coalition"}}, {"value": {"type": "Alternate", "value": "Scoliosis, congenital with unilateral unsegmented bar"}}], "symbols": [{"value": {"type": "Preferred", "value": "SCT"}, "xrefs": [{"db": "OMIM", "id": "272460", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD). SCT syndrome is characterized by postnatal disproportionate short stature, scoliosis and lordosis, clubfeet, hearing loss, dental enamel hypoplasia, carpal and tarsal synostosis, and vertebral fusions. Larsen syndrome is characterized by congenital dislocations of the hip, knee, and elbow; clubfeet (equinovarus or equinovalgus foot deformities); scoliosis and cervical kyphosis, which can be associated with a cervical myelopathy; short, broad, spatulate distal phalanges; distinctive craniofacies (prominent forehead, depressed nasal bridge, malar flattening, and widely spaced eyes); vertebral anomalies; and supernumerary carpal and tarsal bone ossification centers. Individuals with SCT syndrome and Larsen syndrome can have midline cleft palate and hearing loss. AOI and AOIII are characterized by severe short-limbed dwarfism; dislocated hips, knees, and elbows; and clubfeet. AOI is lethal in the perinatal period. In individuals with AOIII, survival beyond the neonatal period is possible with intensive and invasive respiratory support. Piepkorn osteochondrodysplasia (POCD) is a perinatal-lethal micromelic dwarfism characterized by flipper-like limbs (polysyndactyly with complete syndactyly of all fingers and toes, hypoplastic or absent first digits, and duplicated intermediate and distal phalanges), macrobrachycephaly, prominant forehead, hypertelorism, and exophthalmos. Occasional features include cleft palate, omphalocele, and cardiac and genitourinary anomalies. The radiographic features at mid-gestation are characteristic."}, "xrefs": [{"db": "GeneReviews", "id": "NBK2534"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301736"}, {"source": "BookShelf", "value": "NBK2534"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0010094"}, {"db": "MedGen", "id": "C1848934"}, {"db": "Orphanet", "id": "3275"}, {"db": "OMIM", "id": "272460", "type": "MIM"}]}], "id": 1773}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 64280}, "record_status": "current", "title": "NM_001457.4(FLNB):c.5548G>T (p.Gly1850Ter) AND Spondylocarpotarsal synostosis syndrome", "clinvar_assertions": [{"id": 26973, "submission_id": {"local_key": "603381.0014_SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME", "submitter": "OMIM", "title": "FLNB, GLY1850TER_SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME", "submitter_date": "2019-06-05"}, "clinvar_accession": {"acc": "SCV000026973", "version": 2, "type": "SCV", "date_updated": "2019-06-09", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2008-05-01"}], "external_ids": [{"db": "OMIM", "id": "603381.0014", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In an Italian girl with spondylocarpotarsal synostosis syndrome (SCT; 272460), born of consanguineous parents, Brunetti-Pierri et al. (2008) identified a homozygous 5548G-T transversion in the FLNB gene, resulting in a gly1850-to-ter (G1850X) substitution. She had short stature, scoliosis, short trunk, delayed bone age, vertebral fusions, and capitate-hamate fusion. She did not have facial dysmorphic features. Growth hormone (GH) deficiency was documented, but there was no response to GH administration. MRI scan did not show any abnormality of the hypothalamo-pituitary area, but there was platybasia and basilar impression, stenosis of the foramen magnum, but no signs of medullary compression at the cervicomedullary junction. A younger brother, who was heterozygous for the mutation, had short stature and transient GH deficiency."}, "citations": [{"ids": [{"source": "PubMed", "value": "18386804"}]}], "xrefs": [{"db": "OMIM", "id": "272460", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "FLNB, GLY1850TER"}}], "attributes": [{"type": "NonHGVS", "value": "GLY1850TER"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "FLNB"}}]}], "xrefs": [{"db": "OMIM", "id": "603381.0014", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000008451", "version": 3, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "1997-07-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a mother and son with ulnar-mammary syndrome (UMS; 181450), Bamshad et al. (1997) found that the TBX3 gene had deletion of nucleotide 227, a thymidine, resulting in shift of the reading frame and a premature termination codon after 11 novel amino acids. A hand x-ray in the mother showed complete absence of the fourth digit (metacarpal and phalanges) and fusion of the capitate and hamate bones on the right. The mutated protein in this family was predicted to encode a markedly truncated protein containing only 86 amino acids and lacking the entire T-box domain. This mutant protein should be incapable of binding DNA. Affected members of this family demonstrated limb and apocrine anomalies."}, "citations": [{"ids": [{"source": "PubMed", "value": "9207801"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000007987", "version": 1, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "NM_005996.4(TBX3):c.227del (p.Ile76fs)"}}], "canonical_spdi": "NC_000012.12:114682973:A:", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_005996.4:c.227del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_016569.4:c.227del"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_008315.1:g.6191del"}, {"type": "HGVS, genomic, top level", "value": "NC_000012.12:g.114682974del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000012.11:g.115120779del", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_005996.3:c.227delT"}, {"type": "HGVS, protein, RefSeq", "value": "NP_005987.3:p.Ile76fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_057653.3:p.Ile76fs"}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_005996.4:c.227del"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_016569.4:c.227del"}]}, {"type": "ProteinChange1LetterCode", "value": "I76fs"}], "cytogenic_locations": ["12q24.21"], "sequence_locations": [{"assembly": "GRCh38", "chr": "12", "accession": "NC_000012.12", "start": 114682974, "stop": 114682974, "display_start": 114682974, "display_stop": 114682974, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 114682973, "reference_allele_vcf": "GA", "alternate_allele_vcf": "G"}, {"assembly": "GRCh37", "chr": "12", "accession": "NC_000012.11", "start": 115120779, "stop": 115120779, "display_start": 115120779, "display_stop": 115120779, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 115120778, "reference_allele_vcf": "GA", "alternate_allele_vcf": "G"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "T-box transcription factor 3"}}], "symbols": [{"value": {"type": "Preferred", "value": "TBX3"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "12", "accession": "NC_000012.12", "start": 114670255, "stop": 114684175, "display_start": 114670255, "display_stop": 114684175, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "12", "accession": "NC_000012.11", "start": 115108058, "stop": 115121968, "display_start": 115108058, "display_stop": 115121968, "strand": "-", "variant_length": 13911, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "6926"}, {"db": "OMIM", "id": "601621", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:11602"}]}], "xrefs": [{"db": "OMIM", "id": "601621.0001", "type": "Allelic variant"}, {"db": "dbSNP", "id": "1592851924", "type": "rs"}], "comments": [{"text": "ClinGen staff contributed the HGVS expression for this variant.", "type": "public", "datasource": "ClinGen"}], "id": 23026}], "names": [{"value": {"type": "Preferred", "value": "NM_005996.4(TBX3):c.227del (p.Ile76fs)"}}], "id": 7987}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Ulnar-mammary syndrome"}, "xrefs": [{"db": "Genetic Alliance", "id": "Ulnar-mammary+syndrome/7292"}, {"db": "MONDO", "id": "MONDO:0008411"}]}, {"value": {"type": "Alternate", "value": "Schinzel syndrome"}}, {"value": {"type": "Alternate", "value": "Ulnar-mammary syndrome of Pallister"}}, {"value": {"type": "Alternate", "value": "PALLISTER ULNAR-MAMMARY SYNDROME"}, "xrefs": [{"db": "OMIM", "id": "181450", "type": "MIM"}]}], "symbols": [{"value": {"type": "Preferred", "value": "UMS"}, "xrefs": [{"db": "OMIM", "id": "181450", "type": "MIM"}]}], "attributes": [{"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "118"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0008411"}, {"db": "MedGen", "id": "C1866994"}, {"db": "Orphanet", "id": "3138"}, {"db": "OMIM", "id": "181450", "type": "MIM"}]}], "id": 2173}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 65954}, "record_status": "current", "title": "NM_005996.4(TBX3):c.227del (p.Ile76fs) AND Ulnar-mammary syndrome", "clinvar_assertions": [{"id": 28659, "submission_id": {"local_key": "601621.0001_ULNAR-MAMMARY SYNDROME", "submitter": "OMIM", "title": "TBX3, 1-BP DEL, 227T_ULNAR-MAMMARY SYNDROME", "submitter_date": "2017-04-18"}, "clinvar_accession": {"acc": "SCV000028659", "version": 2, "type": "SCV", "date_updated": "2015-10-11", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "1997-07-01"}], "external_ids": [{"db": "OMIM", "id": "601621.0001", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a mother and son with ulnar-mammary syndrome (UMS; 181450), Bamshad et al. (1997) found that the TBX3 gene had deletion of nucleotide 227, a thymidine, resulting in shift of the reading frame and a premature termination codon after 11 novel amino acids. A hand x-ray in the mother showed complete absence of the fourth digit (metacarpal and phalanges) and fusion of the capitate and hamate bones on the right. The mutated protein in this family was predicted to encode a markedly truncated protein containing only 86 amino acids and lacking the entire T-box domain. This mutant protein should be incapable of binding DNA. Affected members of this family demonstrated limb and apocrine anomalies."}, "citations": [{"ids": [{"source": "PubMed", "value": "9207801"}]}], "xrefs": [{"db": "OMIM", "id": "181450", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "TBX3, 1-BP DEL, 227T"}}], "attributes": [{"type": "NonHGVS", "value": "1-BP DEL, 227T"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "TBX3"}}]}], "xrefs": [{"db": "OMIM", "id": "601621.0001", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "ULNAR-MAMMARY SYNDROME"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000008458", "version": 3, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "1999-03-16"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a family with Holt-Oram syndrome (HOS; 142900), Basson et al. (1999) identified a gly80-to-arg substitution in the TBX5 gene. They found that this mutation caused significant cardiac malformations but only minor skeletal abnormalities."}, "citations": [{"ids": [{"source": "PubMed", "value": "10077612"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000007994", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_181486.4(TBX5):c.238G>A (p.Gly80Arg)"}}], "canonical_spdi": "NC_000012.12:114401829:C:T", "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_670t1:c.238G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_000192.3:c.238G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_181486.4:c.238G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_080717.4:c.88G>A"}, {"type": "HGVS, genomic, LRG", "value": "LRG_670:g.11613G>A"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_007373.1:g.11613G>A"}, {"type": "HGVS, genomic, top level", "value": "NC_000012.12:g.114401830C>T", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000012.11:g.114839635C>T", "integer_value": 37}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "LRG_670p1:p.Gly80Arg"}, {"type": "HGVS, protein", "value": "Q99593:p.Gly80Arg"}, {"type": "HGVS, protein, RefSeq", "value": "NP_542448.1:p.Gly30Arg"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000183.2:p.Gly80Arg"}, {"type": "HGVS, protein, RefSeq", "value": "NP_852259.1:p.Gly80Arg"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_000192.3:c.238G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_080717.4:c.88G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_181486.4:c.238G>A"}]}, {"type": "ProteinChange1LetterCode", "value": "G30R"}, {"type": "ProteinChange1LetterCode", "value": "G80R"}, {"type": "ProteinChange3LetterCode", "value": "GLY80ARG"}], "cytogenic_locations": ["12q24.21"], "sequence_locations": [{"assembly": "GRCh38", "chr": "12", "accession": "NC_000012.12", "start": 114401830, "stop": 114401830, "display_start": 114401830, "display_stop": 114401830, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 114401830, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}, {"assembly": "GRCh37", "chr": "12", "accession": "NC_000012.11", "start": 114839635, "stop": 114839635, "display_start": 114839635, "display_stop": 114839635, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 114839635, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "T-box transcription factor 5"}}], "symbols": [{"value": {"type": "Preferred", "value": "TBX5"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "12", "accession": "NC_000012.12", "start": 114353911, "stop": 114408442, "display_start": 114353911, "display_stop": 114408442, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "12", "accession": "NC_000012.11", "start": 114791734, "stop": 114846246, "display_start": 114791734, "display_stop": 114846246, "strand": "-", "variant_length": 54513, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "6910"}, {"db": "OMIM", "id": "601620", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:11604"}]}], "xrefs": [{"db": "UniProtKB", "id": "Q99593#VAR_009701"}, {"db": "OMIM", "id": "601620.0004", "type": "Allelic variant"}, {"db": "dbSNP", "id": "104894381", "type": "rs"}], "id": 23033}], "names": [{"value": {"type": "Preferred", "value": "NM_181486.4(TBX5):c.238G>A (p.Gly80Arg)"}}], "xrefs": [{"db": "ClinGen", "id": "CA254300"}], "id": 7994}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Holt-Oram syndrome"}, "xrefs": [{"db": "Genetic Alliance", "id": "Holt-Oram+syndrome/3457"}, {"db": "MONDO", "id": "MONDO:0007732"}, {"db": "SNOMED CT", "id": "19092004"}]}, {"value": {"type": "Alternate", "value": "Ventriculo-radial syndrome"}}, {"value": {"type": "Alternate", "value": "Atrio digital syndrome"}}, {"value": {"type": "Alternate", "value": "Cardiac-limb syndrome"}}, {"value": {"type": "Alternate", "value": "Heart-hand syndrome, type 1"}}, {"value": {"type": "Alternate", "value": "HOS 1"}}, {"value": {"type": "Alternate", "value": "TBX5-Related Holt-Oram Syndrome"}}], "symbols": [{"value": {"type": "Preferred", "value": "HOS"}, "xrefs": [{"db": "OMIM", "id": "142900", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "HOS1"}, "xrefs": [{"db": "OMIM", "id": "142900", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1111"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301290"}, {"source": "BookShelf", "value": "NBK1111"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0007732"}, {"db": "MedGen", "id": "C0265264"}, {"db": "Orphanet", "id": "392"}, {"db": "OMIM", "id": "142900", "type": "MIM"}]}], "id": 2174}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 65961}, "record_status": "current", "title": "NM_181486.4(TBX5):c.238G>A (p.Gly80Arg) AND Holt-Oram syndrome", "clinvar_assertions": [{"id": 28666, "submission_id": {"local_key": "601620.0004_HOLT-ORAM SYNDROME", "submitter": "OMIM", "title": "TBX5, GLY80ARG_HOLT-ORAM SYNDROME", "submitter_date": "2016-09-28"}, "clinvar_accession": {"acc": "SCV000028666", "version": 2, "type": "SCV", "date_updated": "2016-10-02", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "1999-03-16"}], "external_ids": [{"db": "OMIM", "id": "601620.0004", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a family with Holt-Oram syndrome (HOS; 142900), Basson et al. (1999) identified a gly80-to-arg substitution in the TBX5 gene. They found that this mutation caused significant cardiac malformations but only minor skeletal abnormalities."}, "citations": [{"ids": [{"source": "PubMed", "value": "10077612"}]}], "xrefs": [{"db": "OMIM", "id": "142900", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "TBX5, GLY80ARG"}}], "attributes": [{"type": "NonHGVS", "value": "GLY80ARG"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "TBX5"}}]}], "xrefs": [{"db": "OMIM", "id": "601620.0004", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "HOLT-ORAM SYNDROME"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000008460", "version": 4, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2000-06-05"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a Chinese family with Holt-Oram syndrome (HOS; 142900), Yang et al. (2000) identified a 1-bp deletion in exon 4 at nucleotide 416, resulting in a frameshift of downstream codons. The 2 affected family members had atrial septal defects and severe upper limb manifestations, including aplasia/hypoplasia of the arms."}, "citations": [{"ids": [{"source": "PubMed", "value": "10842287"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000007996", "version": 1, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "NM_181486.4(TBX5):c.416del (p.Pro139fs)"}}], "canonical_spdi": "NC_000012.12:114398666:GGG:GG", "attributes": [{"type": "HGVS, coding", "value": "NM_000192.3:c.416delC"}, {"type": "HGVS, coding, LRG", "value": "LRG_670t1:c.416del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_080717.4:c.266del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_000192.3:c.416del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_181486.4:c.416del"}, {"type": "HGVS, genomic, LRG", "value": "LRG_670:g.14776del"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_007373.1:g.14776del"}, {"type": "HGVS, genomic, top level", "value": "NC_000012.12:g.114398669del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000012.11:g.114836474del", "integer_value": 37}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "LRG_670p1:p.Pro139fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000183.2:p.Pro139fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_852259.1:p.Pro139fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_542448.1:p.Pro89fs"}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_000192.3:c.416del"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_080717.4:c.266del"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_181486.4:c.416del"}]}, {"type": "ProteinChange1LetterCode", "value": "P139fs"}, {"type": "ProteinChange1LetterCode", "value": "P89fs"}], "cytogenic_locations": ["12q24.21"], "sequence_locations": [{"assembly": "GRCh38", "chr": "12", "accession": "NC_000012.12", "start": 114398667, "stop": 114398667, "display_start": 114398667, "display_stop": 114398667, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 114398666, "reference_allele_vcf": "TG", "alternate_allele_vcf": "T"}, {"assembly": "GRCh37", "chr": "12", "accession": "NC_000012.11", "start": 114836472, "stop": 114836472, "display_start": 114836472, "display_stop": 114836472, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 114836471, "reference_allele_vcf": "TG", "alternate_allele_vcf": "T"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "T-box transcription factor 5"}}], "symbols": [{"value": {"type": "Preferred", "value": "TBX5"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "12", "accession": "NC_000012.12", "start": 114353911, "stop": 114408442, "display_start": 114353911, "display_stop": 114408442, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "12", "accession": "NC_000012.11", "start": 114791734, "stop": 114846246, "display_start": 114791734, "display_stop": 114846246, "strand": "-", "variant_length": 54513, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "6910"}, {"db": "OMIM", "id": "601620", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:11604"}]}], "xrefs": [{"db": "OMIM", "id": "601620.0006", "type": "Allelic variant"}, {"db": "dbSNP", "id": "1593880204", "type": "rs"}], "comments": [{"text": "ClinGen staff contributed the HGVS expression for this variant.", "type": "public", "datasource": "ClinGen"}], "id": 23035}], "names": [{"value": {"type": "Preferred", "value": "NM_181486.4(TBX5):c.416del (p.Pro139fs)"}}], "id": 7996}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Holt-Oram syndrome"}, "xrefs": [{"db": "Genetic Alliance", "id": "Holt-Oram+syndrome/3457"}, {"db": "MONDO", "id": "MONDO:0007732"}, {"db": "SNOMED CT", "id": "19092004"}]}, {"value": {"type": "Alternate", "value": "Ventriculo-radial syndrome"}}, {"value": {"type": "Alternate", "value": "Atrio digital syndrome"}}, {"value": {"type": "Alternate", "value": "Cardiac-limb syndrome"}}, {"value": {"type": "Alternate", "value": "Heart-hand syndrome, type 1"}}, {"value": {"type": "Alternate", "value": "HOS 1"}}, {"value": {"type": "Alternate", "value": "TBX5-Related Holt-Oram Syndrome"}}], "symbols": [{"value": {"type": "Preferred", "value": "HOS"}, "xrefs": [{"db": "OMIM", "id": "142900", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "HOS1"}, "xrefs": [{"db": "OMIM", "id": "142900", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1111"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301290"}, {"source": "BookShelf", "value": "NBK1111"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0007732"}, {"db": "MedGen", "id": "C0265264"}, {"db": "Orphanet", "id": "392"}, {"db": "OMIM", "id": "142900", "type": "MIM"}]}], "id": 2174}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 65963}, "record_status": "current", "title": "NM_181486.4(TBX5):c.416del (p.Pro139fs) AND Holt-Oram syndrome", "clinvar_assertions": [{"id": 28668, "submission_id": {"local_key": "601620.0006_HOLT-ORAM SYNDROME", "submitter": "OMIM", "title": "TBX5, 1-BP DEL, 416C_HOLT-ORAM SYNDROME", "submitter_date": "2016-09-28"}, "clinvar_accession": {"acc": "SCV000028668", "version": 2, "type": "SCV", "date_updated": "2016-10-02", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2000-06-05"}], "external_ids": [{"db": "OMIM", "id": "601620.0006", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a Chinese family with Holt-Oram syndrome (HOS; 142900), Yang et al. (2000) identified a 1-bp deletion in exon 4 at nucleotide 416, resulting in a frameshift of downstream codons. The 2 affected family members had atrial septal defects and severe upper limb manifestations, including aplasia/hypoplasia of the arms."}, "citations": [{"ids": [{"source": "PubMed", "value": "10842287"}]}], "xrefs": [{"db": "OMIM", "id": "142900", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "TBX5, 1-BP DEL, 416C"}}], "attributes": [{"type": "NonHGVS", "value": "1-BP DEL, 416C"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "TBX5"}}]}], "xrefs": [{"db": "OMIM", "id": "601620.0006", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "HOLT-ORAM SYNDROME"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000239477", "version": 4, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2016-08-22"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "likely pathogenic", "date_last_evaluated": "2015-01-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}, {"attribute": {"type": "FamilyHistory", "value": "yes"}}]}, {"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided", "family_data": {"num_families": 1}}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 2 affected individuals from an Indian family with complex camptosynpolydactyly (CCSPD; 607539), originally reported by Phadke and Gautam (1999), Phadke et al. (2016) identified homozygosity for a c.220_221delinsTT mutation in the BHLHA9 gene, resulting in a glu74-to-leu (E74L) substitution at a highly conserved residue within the DNA binding domain. The mutation was present in heterozygosity in the first-cousin unaffected parents, and was not found in 30 in-house Indian exomes or in the dbSNP, Exome Variant Server, ExAC, or 1000 Genomes Project databases."}, "citations": [{"ids": [{"source": "PubMed", "value": "10096595"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "27041388"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000253164", "version": 3, "measures": [{"type": "indel", "names": [{"value": {"type": "Preferred", "value": "NM_001164405.1(BHLHA9):c.220_221delinsTT (p.Glu74Leu)"}}, {"value": {"type": "Alternate", "value": "E74L"}, "xrefs": [{"db": "OMIM", "id": "615416.0004", "type": "Allelic variant"}]}], "canonical_spdi": "NC_000017.11:1270782:GA:TT", "attributes": [{"type": "HGVS, genomic, RefSeqGene", "value": "NG_042055.1:g.5220_5221delinsTT"}, {"type": "HGVS, genomic, top level", "value": "NC_000017.11:g.1270783_1270784delinsTT", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000017.10:g.1174077_1174078delinsTT", "integer_value": 37}, {"type": "ProteinChange3LetterCode", "value": "GLU74LEU"}], "cytogenic_locations": ["17p13.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "17", "accession": "NC_000017.11", "start": 1270783, "stop": 1270784, "display_start": 1270783, "display_stop": 1270784, "variant_length": 2, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 1270783, "reference_allele_vcf": "GA", "alternate_allele_vcf": "TT"}, {"assembly": "GRCh37", "chr": "17", "accession": "NC_000017.10", "start": 1174077, "stop": 1174078, "display_start": 1174077, "display_stop": 1174078, "variant_length": 2, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 1174077, "reference_allele_vcf": "GA", "alternate_allele_vcf": "TT"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "basic helix-loop-helix family member a9"}}], "symbols": [{"value": {"type": "Preferred", "value": "BHLHA9"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "17", "accession": "NC_000017.11", "start": 1270444, "stop": 1271815, "display_start": 1270444, "display_stop": 1271815, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "17", "accession": "NC_000017.10", "start": 1173857, "stop": 1174564, "display_start": 1173857, "display_stop": 1174564, "strand": "+", "variant_length": 708, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "727857"}, {"db": "OMIM", "id": "615416", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:35126"}]}], "xrefs": [{"db": "OMIM", "id": "615416.0004", "type": "Allelic variant"}, {"db": "dbSNP", "id": "886037856", "type": "rs"}], "id": 247576}], "names": [{"value": {"type": "Preferred", "value": "NM_001164405.1(BHLHA9):c.220_221delinsTT (p.Glu74Leu)"}}], "xrefs": [{"db": "ClinGen", "id": "CA10586226"}], "id": 253164}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Camptosynpolydactyly, complex"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0011853"}]}, {"value": {"type": "Alternate", "value": "CAMPTOPOLYDACTYLY, DISORGANIZATION TYPE"}, "xrefs": [{"db": "OMIM", "id": "607539", "type": "MIM"}]}], "symbols": [{"value": {"type": "Preferred", "value": "CCSPD"}, "xrefs": [{"db": "OMIM", "id": "607539", "type": "MIM"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0011853"}, {"db": "MedGen", "id": "C1843758"}, {"db": "OMIM", "id": "607539", "type": "MIM"}]}], "id": 31379}, "date_created": "2016-08-22", "date_last_updated": "2022-04-23", "id": 576536}, "record_status": "current", "title": "NM_001164405.1(BHLHA9):c.220_221delinsTT (p.Glu74Leu) AND Camptosynpolydactyly, complex", "clinvar_assertions": [{"id": 576490, "submission_id": {"local_key": "615416.0004_CAMPTOSYNPOLYDACTYLY, COMPLEX (1 family)", "submitter": "OMIM", "title": "BHLHA9, GLU74LEU_CAMPTOSYNPOLYDACTYLY, COMPLEX (1 family)", "submitter_date": "2022-01-11"}, "clinvar_accession": {"acc": "SCV000297963", "version": 2, "type": "SCV", "date_updated": "2022-01-14", "date_created": "2016-08-22", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2022-01-11"}], "external_ids": [{"db": "OMIM", "id": "615416.0004", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided", "family_data": {"num_families": 1}}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 2 affected individuals from an Indian family with complex camptosynpolydactyly (CCSPD; 607539), originally reported by Phadke and Gautam (1999), Phadke et al. (2016) identified homozygosity for a c.220_221delinsTT mutation in the BHLHA9 gene, resulting in a glu74-to-leu (E74L) substitution at a highly conserved residue within the DNA binding domain. The mutation was present in heterozygosity in the first-cousin unaffected parents, and was not found in 30 in-house Indian exomes or in the dbSNP, Exome Variant Server, ExAC, or 1000 Genomes Project databases."}, "citations": [{"ids": [{"source": "PubMed", "value": "10096595"}]}, {"ids": [{"source": "PubMed", "value": "27041388"}]}], "xrefs": [{"db": "OMIM", "id": "607539", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "BHLHA9, GLU74LEU"}}], "attributes": [{"type": "NonHGVS", "value": "GLU74LEU"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "BHLHA9"}}]}], "xrefs": [{"db": "OMIM", "id": "615416.0004", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "CAMPTOSYNPOLYDACTYLY, COMPLEX (1 family)"}}]}]}}, {"id": 619946, "submission_id": {"local_key": "chr17:1174077_1174078delinsTT", "submitter": "Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS", "submitted_assembly": "GRCh37", "submitter_date": "2016-06-27"}, "clinvar_accession": {"acc": "SCV000323247", "version": 1, "type": "SCV", "date_updated": "2016-08-22", "date_created": "2016-08-22", "org_id": "505641", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["likely pathogenic"], "date_last_evaluated": "2015-01-01"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Submitter's publication"}, "citations": [{"ids": [{"source": "PubMed", "value": "27041388"}]}]}], "observed_in": [{"sample": {"origin": "germline", "geographic_origin": "India", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1, "gender": "female", "family_data": {"family_history": "yes"}, "proband": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "Homozygote", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hand polydactyly"}}], "xrefs": [{"db": "HP", "id": "HP:0001161"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Camptodactyly of finger"}}], "xrefs": [{"db": "HP", "id": "HP:0100490"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Toe syndactyly"}}], "xrefs": [{"db": "HP", "id": "HP:0001770"}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "27041388"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_001164405.1:c.220_221delinsTT"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "BHLHA9"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "607539", "type": "MIM"}]}]}, "study_description": "Identfication of novel variants using exome sequencing in Mendelian Disorders.", "comments": [{"text": "Indel variant"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000256421", "version": 2, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2016-10-21"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "likely pathogenic", "date_last_evaluated": "2014-01-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}, {"attribute": {"type": "FamilyHistory", "value": "yes"}}]}], "measures": {"type": "Variant", "acc": "VCV000266108", "version": 2, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "NM_020435.4(GJC2):c.78del (p.Trp27fs)"}}], "canonical_spdi": "NC_000001.11:228157835:G:", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_020435.4:c.78del"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_011838.1:g.12985del"}, {"type": "HGVS, genomic, top level", "value": "NC_000001.11:g.228157836del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000001.10:g.228345537del", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_020435.1:c.69delG"}, {"type": "HGVS, protein, RefSeq", "value": "NP_065168.2:p.Trp27fs"}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_020435.4:c.78del"}]}, {"type": "ProteinChange1LetterCode", "value": "W27fs"}], "cytogenic_locations": ["1q42.13"], "sequence_locations": [{"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "start": 228157836, "stop": 228157836, "display_start": 228157836, "display_stop": 228157836, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 228157835, "reference_allele_vcf": "TG", "alternate_allele_vcf": "T"}, {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "start": 228345537, "stop": 228345537, "display_start": 228345537, "display_stop": 228345537, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 228345536, "reference_allele_vcf": "TG", "alternate_allele_vcf": "T"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "gap junction protein gamma 2"}}], "symbols": [{"value": {"type": "Preferred", "value": "GJC2"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "start": 228149930, "stop": 228159826, "display_start": 228149930, "display_stop": 228159826, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "start": 228337414, "stop": 228347526, "display_start": 228337414, "display_stop": 228347526, "strand": "+", "variant_length": 10113, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "57165"}, {"db": "OMIM", "id": "608803", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:17494"}]}], "xrefs": [{"db": "dbSNP", "id": "886039904", "type": "rs"}], "id": 260933}], "names": [{"value": {"type": "Preferred", "value": "NM_020435.4(GJC2):c.78del (p.Trp27fs)"}}], "xrefs": [{"db": "ClinGen", "id": "CA10588985"}], "id": 266108}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Hypomyelinating leukodystrophy 2"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0012125"}]}, {"value": {"type": "Alternate", "value": "PELIZAEUS-MERZBACHER-LIKE DISEASE, 1"}, "xrefs": [{"db": "OMIM", "id": "608804", "type": "MIM"}]}], "symbols": [{"value": {"type": "Alternate", "value": "HLD2"}, "xrefs": [{"db": "OMIM", "id": "608804", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "PMLD1"}, "xrefs": [{"db": "OMIM", "id": "608804", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy that typically presents during the neonatal or early-infantile period with nystagmus, commonly associated with hypotonia, delayed acquisition of motor milestones, speech delay, and dysarthria. Over time the hypotonia typically evolves into spasticity that affects the ability to walk and communicate. Cerebellar signs (gait ataxia, dysmetria, intention tremor, head titubation, and dysdiadochokinesia) frequently manifest during childhood. Some individuals develop extrapyramidal movement abnormalities (choreoathetosis and dystonia). Hearing loss and optic atrophy are observed in rare cases. Motor impairments can lead to swallowing difficulty and orthopedic complications, including hip dislocation and scoliosis. Most individuals have normal cognitive skills or mild intellectual disability \u2013 which, however, can be difficult to evaluate in the context of profound motor impairment."}, "xrefs": [{"db": "GeneReviews", "id": "NBK470716"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "29276893"}, {"source": "BookShelf", "value": "NBK470716"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0012125"}, {"db": "MedGen", "id": "C1837355"}, {"db": "Orphanet", "id": "280270"}, {"db": "Orphanet", "id": "280282"}, {"db": "OMIM", "id": "608804", "type": "MIM"}]}], "id": 527}, "date_created": "2016-10-21", "date_last_updated": "2022-04-23", "id": 619972}, "record_status": "current", "title": "NM_020435.4(GJC2):c.78del (p.Trp27fs) AND Hypomyelinating leukodystrophy 2", "clinvar_assertions": [{"id": 619942, "submission_id": {"local_key": "chr1:228345528delG", "submitter": "Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS", "submitted_assembly": "GRCh37", "submitter_date": "2016-06-27"}, "clinvar_accession": {"acc": "SCV000323243", "version": 1, "type": "SCV", "date_updated": "2016-10-21", "date_created": "2016-10-21", "org_id": "505641", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["likely pathogenic"], "date_last_evaluated": "2014-01-01"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Submitter's publication"}, "citations": [{"ids": [{"source": "PubMed", "value": "26354221"}]}]}], "observed_in": [{"sample": {"origin": "germline", "geographic_origin": "India", "species": {"value": "human", "taxonomy_id": 9606}, "age": [{"age_unit": "years", "value": 0, "type": "minimum"}, {"age_unit": "years", "value": 9, "type": "maximum"}], "affected_status": "yes", "number_tested": 1, "gender": "female", "family_data": {"family_history": "yes"}, "proband": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "Homozygote", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Pendular nystagmus"}}], "xrefs": [{"db": "HP", "id": "HP:0012043"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Progressive cerebellar ataxia"}}], "xrefs": [{"db": "HP", "id": "HP:0002073"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Spastic ataxia"}}], "xrefs": [{"db": "HP", "id": "HP:0002497"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Spastic paraparesis"}}], "xrefs": [{"db": "HP", "id": "HP:0002313"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "CNS hypomyelination"}}], "xrefs": [{"db": "HP", "id": "HP:0003429"}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "26354221"}]}], "comments": [{"text": "Sister of the patient was similarly affected"}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_020435.1:c.69delG"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "GJC2"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "608804", "type": "MIM"}]}]}, "study_description": "Identfication of novel variants using exome sequencing in Mendelian Disorders.", "comments": [{"text": "Indel variant"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000256432", "version": 2, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2016-10-21"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "likely pathogenic", "date_last_evaluated": "2015-01-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "unknown", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000266111", "version": 2, "measures": [{"type": "insertion", "names": [{"value": {"type": "Preferred", "value": "NM_000132.4(F8):c.4767_4768insATAACCAA (p.Tyr1590fs)"}}], "canonical_spdi": "NC_000023.11:154929022::TTGGTTAT", "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_555t1:c.4767_4768insATAACCAA"}, {"type": "HGVS, coding, RefSeq", "value": "NM_000132.4:c.4767_4768insATAACCAA"}, {"type": "HGVS, genomic, LRG", "value": "LRG_555:g.98701_98702insATAACCAA"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_011403.1:g.98701_98702insATAACCAA"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_011403.2:g.98701_98702insATAACCAA"}, {"type": "HGVS, genomic, top level", "value": "NC_000023.11:g.154929022_154929023insTTGGTTAT", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000023.10:g.154157297_154157298insTTGGTTAT", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_000132.3:c.4767_4768insATAACCAA"}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "LRG_555p1:p.Tyr1590fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000123.1:p.Tyr1590fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000123.1:p.Tyr1590fs"}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_000132.4:c.4767_4768insATAACCAA"}]}, {"type": "ProteinChange1LetterCode", "value": "Y1590fs"}], "cytogenic_locations": ["Xq28"], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 154929022, "stop": 154929023, "display_start": 154929022, "display_stop": 154929023, "variant_length": 8, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 154929022, "reference_allele_vcf": "A", "alternate_allele_vcf": "ATTGGTTAT"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 154157297, "stop": 154157298, "display_start": 154157297, "display_stop": 154157298, "variant_length": 8, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 154157297, "reference_allele_vcf": "A", "alternate_allele_vcf": "ATTGGTTAT"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "coagulation factor VIII"}}], "symbols": [{"value": {"type": "Preferred", "value": "F8"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 154835792, "stop": 155022723, "display_start": 154835792, "display_stop": 155022723, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 154064062, "stop": 154250997, "display_start": 154064062, "display_stop": 154250997, "strand": "-", "variant_length": 186936, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "2157"}, {"db": "OMIM", "id": "300841", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:3546"}]}], "xrefs": [{"db": "dbSNP", "id": "886039906", "type": "rs"}], "id": 260943}], "names": [{"value": {"type": "Preferred", "value": "NM_000132.4(F8):c.4767_4768insATAACCAA (p.Tyr1590fs)"}}], "xrefs": [{"db": "ClinGen", "id": "CA10588993"}], "id": 266111}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Hereditary factor VIII deficiency disease"}, "xrefs": [{"db": "Genetic Alliance", "id": "Hereditary+factor+VIII+deficiency+disease/8517"}, {"db": "SNOMED CT", "id": "28293008"}]}, {"value": {"type": "Alternate", "value": "Hemophilia A"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0010602"}]}, {"value": {"type": "Alternate", "value": "Hemophilia A, congenital"}}, {"value": {"type": "Alternate", "value": "Hemophilia, classic"}}, {"value": {"type": "Alternate", "value": "HEM A"}}, {"value": {"type": "Alternate", "value": "Factor 8 deficiency, congenital"}}, {"value": {"type": "Alternate", "value": "Factor VIII deficiency, congenital"}}], "symbols": [{"value": {"type": "Preferred", "value": "HEMA"}, "xrefs": [{"db": "OMIM", "id": "306700", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Hemophilia A is characterized by deficiency in factor VIII clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor VIII clotting activity. Individuals with severe hemophilia A are usually diagnosed during the first two years of life following bleeding from minor mouth injuries and large \"goose eggs\" from minor head bumps. Without prophylactic treatment, they may average up to two to five spontaneous bleeding episodes each month including spontaneous joint bleeds or deep-muscle hematomas, and prolonged bleeding or excessive pain and swelling from minor injuries, surgery, and tooth extractions. Individuals with moderate hemophilia A seldom have spontaneous bleeding; however, they do have prolonged or delayed oozing after relatively minor trauma and are usually diagnosed before age five to six years; the frequency of bleeding episodes varies, usually from once a month to once a year. Individuals with mild hemophilia A do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions; the frequency of bleeding episodes varies widely, typically from once a year to once every ten years. Individuals with mild hemophilia A are often not diagnosed until later in life. Approximately 30% of heterozygous females have clotting activity below 40% and are at risk for bleeding (even if the affected family member is mildly affected). After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1404"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301578"}, {"source": "BookShelf", "value": "NBK1404"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "21654722"}], "type": "Translational/Evidence-based", "abbrev": "EuroGenetest, 2011"}, {"ids": [{"source": "PubMed", "value": "23157203"}], "type": "practice guideline", "abbrev": "UKHCDO, 2013"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0010602"}, {"db": "MedGen", "id": "C0019069"}, {"db": "Orphanet", "id": "98878"}, {"db": "OMIM", "id": "306700", "type": "MIM"}]}], "id": 2866}, "date_created": "2016-10-21", "date_last_updated": "2022-04-23", "id": 619983}, "record_status": "current", "title": "NM_000132.4(F8):c.4767_4768insATAACCAA (p.Tyr1590fs) AND Hereditary factor VIII deficiency disease", "clinvar_assertions": [{"id": 619945, "submission_id": {"local_key": "chrX:154157297-154157298insTTGGTTAT", "submitter": "Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS", "submitted_assembly": "GRCh37", "submitter_date": "2016-06-27"}, "clinvar_accession": {"acc": "SCV000323246", "version": 1, "type": "SCV", "date_updated": "2016-10-21", "date_created": "2016-10-21", "org_id": "505641", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["likely pathogenic"], "date_last_evaluated": "2015-01-01"}], "observed_in": [{"sample": {"origin": "unknown", "geographic_origin": "India", "species": {"value": "human", "taxonomy_id": 9606}, "age": [{"age_unit": "years", "value": 0, "type": "minimum"}, {"age_unit": "years", "value": 9, "type": "maximum"}], "affected_status": "yes", "number_tested": 1, "gender": "male", "proband": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Hemizygote", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Pallor"}}], "xrefs": [{"db": "HP", "id": "HP:0000980"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Reduced factor VIII activity"}}], "xrefs": [{"db": "HP", "id": "HP:0003125"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_000132.3:c.4767_4768insATAACCAA"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "F8"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "306700", "type": "MIM"}]}]}, "study_description": "Identfication of novel variants using exome sequencing in Mendelian Disorders.", "comments": [{"text": "Indel variant"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000256440", "version": 2, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2016-10-21"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "likely pathogenic", "date_last_evaluated": "2016-01-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}, {"attribute": {"type": "FamilyHistory", "value": "no"}}]}], "measures": {"type": "Variant", "acc": "VCV000266116", "version": 2, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "NM_020366.4(RPGRIP1):c.903_906+17del"}}], "canonical_spdi": "NC_000014.9:21307829:TCAAGAGGTGAGTTGCCATCATCA:TCA", "attributes": [{"type": "HGVS, coding", "value": "NM_020366.3:c.900_906+14delTCAAGAGGTGAGTTGCCATCA"}, {"type": "HGVS, coding, RefSeq", "value": "NM_020366.4:c.903_906+17del"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_008933.1:g.24857_24877del"}, {"type": "HGVS, genomic, top level", "value": "NC_000014.9:g.21307833_21307853del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000014.8:g.21775992_21776012del", "integer_value": 37}, {"type": "MolecularConsequence", "value": "splice donor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001575"}, {"db": "RefSeq", "id": "NM_020366.4:c.903_906+17del"}]}], "cytogenic_locations": ["14q11.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "14", "accession": "NC_000014.9", "start": 21307830, "stop": 21307850, "display_start": 21307830, "display_stop": 21307850, "variant_length": 21, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 21307829, "reference_allele_vcf": "TTCAAGAGGTGAGTTGCCATCA", "alternate_allele_vcf": "T"}, {"assembly": "GRCh37", "chr": "14", "accession": "NC_000014.8", "start": 21775989, "stop": 21776009, "display_start": 21775989, "display_stop": 21776009, "variant_length": 21, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 21775988, "reference_allele_vcf": "TTCAAGAGGTGAGTTGCCATCA", "alternate_allele_vcf": "T"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "RPGR interacting protein 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "RPGRIP1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "14", "accession": "NC_000014.9", "start": 21280083, "stop": 21351301, "display_start": 21280083, "display_stop": 21351301, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "14", "accession": "NC_000014.8", "start": 21756135, "stop": 21819459, "display_start": 21756135, "display_stop": 21819459, "strand": "+", "variant_length": 63325, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "57096"}, {"db": "OMIM", "id": "605446", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:13436"}]}], "xrefs": [{"db": "dbSNP", "id": "886039911", "type": "rs"}], "id": 260938}], "names": [{"value": {"type": "Preferred", "value": "NM_020366.4(RPGRIP1):c.903_906+17del"}}], "xrefs": [{"db": "ClinGen", "id": "CA10588989"}], "id": 266116}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Leber congenital amaurosis 6"}, "xrefs": [{"db": "Genetic Alliance", "id": "Leber+congenital+amaurosis+type+6/4140"}, {"db": "MONDO", "id": "MONDO:0013446"}]}], "symbols": [{"value": {"type": "Preferred", "value": "LCA6"}, "xrefs": [{"db": "OMIM", "id": "613826", "type": "MIM"}]}], "attributes": [{"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "10490"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "30285347"}, {"source": "BookShelf", "value": "NBK531510"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0013446"}, {"db": "MedGen", "id": "C1854260"}, {"db": "Orphanet", "id": "65"}, {"db": "OMIM", "id": "613826", "type": "MIM"}]}], "id": 1368}, "date_created": "2016-10-21", "date_last_updated": "2022-04-23", "id": 619991}, "record_status": "current", "title": "NM_020366.4(RPGRIP1):c.903_906+17del AND Leber congenital amaurosis 6", "clinvar_assertions": [{"id": 619951, "submission_id": {"local_key": "chr14:21775989_21776009delTCAAGAGGTGAGTTGCCATCA", "submitter": "Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS", "submitted_assembly": "GRCh37", "submitter_date": "2016-06-27"}, "clinvar_accession": {"acc": "SCV000323252", "version": 1, "type": "SCV", "date_updated": "2016-10-21", "date_created": "2016-10-21", "org_id": "505641", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["likely pathogenic"], "date_last_evaluated": "2016-01-01"}], "observed_in": [{"sample": {"origin": "germline", "geographic_origin": "India", "species": {"value": "human", "taxonomy_id": 9606}, "age": [{"age_unit": "years", "value": 0, "type": "minimum"}, {"age_unit": "years", "value": 9, "type": "maximum"}], "affected_status": "yes", "number_tested": 1, "gender": "female", "family_data": {"family_history": "no"}, "proband": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "Homozygote", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Rod-cone dystrophy"}}], "xrefs": [{"db": "HP", "id": "HP:0000510"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Pendular nystagmus"}}], "xrefs": [{"db": "HP", "id": "HP:0012043"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_020366.3:c.900_906+14delTCAAGAGGTGAGTTGCCATCA"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "RPGRIP1"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "613826", "type": "MIM"}]}]}, "study_description": "Identfication of novel variants using exome sequencing in Mendelian Disorders.", "comments": [{"text": "Indel variant"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000256480", "version": 2, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2016-10-23"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "likely pathogenic", "date_last_evaluated": "2014-01-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "unknown", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000266110", "version": 2, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "NM_001849.4(COL6A2):c.2040dup (p.Ile681fs)"}}], "canonical_spdi": "NC_000021.9:46125854:T:TT", "attributes": [{"type": "HGVS, coding", "value": "NM_001849.3:c.2040dupT"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001849.4:c.2040dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_058174.3:c.2040dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_058175.3:c.2040dup"}, {"type": "HGVS, genomic, LRG", "value": "LRG_476:g.32737dup"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_008675.1:g.32737dup"}, {"type": "HGVS, genomic, top level", "value": "NC_000021.9:g.46125855dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000021.8:g.47545769dup", "integer_value": 37}, {"type": "HGVS, protein"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001840.3:p.Ile681fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_478054.2:p.Ile681fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_478055.2:p.Ile681fs"}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_001849.4:c.2040dup"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_058174.3:c.2040dup"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_058175.3:c.2040dup"}]}, {"type": "ProteinChange1LetterCode", "value": "I681fs"}], "cytogenic_locations": ["21q22.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "21", "accession": "NC_000021.9", "start": 46125854, "stop": 46125855, "display_start": 46125854, "display_stop": 46125855, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 46125854, "reference_allele_vcf": "G", "alternate_allele_vcf": "GT"}, {"assembly": "GRCh37", "chr": "21", "accession": "NC_000021.8", "start": 47545768, "stop": 47545769, "display_start": 47545768, "display_stop": 47545769, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 47545768, "reference_allele_vcf": "G", "alternate_allele_vcf": "GT"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "collagen type VI alpha 2 chain"}}], "symbols": [{"value": {"type": "Preferred", "value": "COL6A2"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "21", "accession": "NC_000021.9", "start": 46098112, "stop": 46132848, "display_start": 46098112, "display_stop": 46132848, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "21", "accession": "NC_000021.8", "start": 47518032, "stop": 47552762, "display_start": 47518032, "display_stop": 47552762, "strand": "+", "variant_length": 34731, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "1292"}, {"db": "OMIM", "id": "120240", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:2212"}]}], "xrefs": [{"db": "dbSNP", "id": "886039905", "type": "rs"}], "id": 260941}], "names": [{"value": {"type": "Preferred", "value": "NM_001849.4(COL6A2):c.2040dup (p.Ile681fs)"}}], "xrefs": [{"db": "ClinGen", "id": "CA10588991"}], "id": 266110}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Ullrich congenital muscular dystrophy 1"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0009681"}]}, {"value": {"type": "Alternate", "value": "Late onset scleroatonic familial myopathy (subtype)"}}, {"value": {"type": "Alternate", "value": "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL RECESSIVE"}, "xrefs": [{"db": "OMIM", "id": "120220.0009", "type": "Allelic variant"}, {"db": "OMIM", "id": "120220.0010", "type": "Allelic variant"}, {"db": "OMIM", "id": "120220.0011", "type": "Allelic variant"}, {"db": "OMIM", "id": "120240.0002", "type": "Allelic variant"}, {"db": "OMIM", "id": "120240.0003", "type": "Allelic variant"}, {"db": "OMIM", "id": "120240.0004", "type": "Allelic variant"}, {"db": "OMIM", "id": "120240.0006", "type": "Allelic variant"}, {"db": "OMIM", "id": "120240.0007", "type": "Allelic variant"}, {"db": "OMIM", "id": "120240.0012", "type": "Allelic variant"}, {"db": "OMIM", "id": "120240.0015", "type": "Allelic variant"}, {"db": "OMIM", "id": "120240.0016", "type": "Allelic variant"}, {"db": "OMIM", "id": "120240.0020", "type": "Allelic variant"}, {"db": "OMIM", "id": "120240.0021", "type": "Allelic variant"}, {"db": "OMIM", "id": "120250.0002", "type": "Allelic variant"}, {"db": "OMIM", "id": "120250.0003", "type": "Allelic variant"}]}, {"value": {"type": "Alternate", "value": "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, DIGENIC, COL6A1/COL6A2"}, "xrefs": [{"db": "OMIM", "id": "120220.0014", "type": "Allelic variant"}, {"db": "OMIM", "id": "120240.0014", "type": "Allelic variant"}]}], "symbols": [{"value": {"type": "Preferred", "value": "UCMD1"}, "xrefs": [{"db": "OMIM", "id": "254090", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "UCMD"}}], "attributes": [{"value": {"type": "public definition", "value": "Collagen VI-related dystrophies (COL6-RDs) represent a continuum of overlapping clinical phenotypes with Bethlem muscular dystrophy at the milder end, Ullrich congenital muscular dystrophy (UCMD) at the more severe end, and a phenotype in between UCMD and Bethlem muscular dystrophy, referred to as intermediate COL6-RD. Bethlem muscular dystrophy is characterized by a combination of proximal muscle weakness and joint contractures. Hypotonia and delayed motor milestones occur in early childhood; mild hypotonia and weakness may be present congenitally. By adulthood, there is evidence of proximal weakness and contractures of the elbows, Achilles tendons, and long finger flexors. The progression of weakness is slow, and more than two thirds of affected individuals older than age 50 years remain independently ambulatory indoors, while relying on supportive means for mobility outdoors. Respiratory involvement is not a consistent feature. UCMD is characterized by congenital weakness, hypotonia, proximal joint contractures, and striking hyperlaxity of distal joints. Decreased fetal movements are frequently reported. Some affected children acquire the ability to walk independently; however, progression of the disease results in a loss of ambulation by age ten to eleven years. Early and severe respiratory insufficiency occurs in all individuals, resulting in the need for nocturnal noninvasive ventilation (NIV) in the form of bilevel positive airway pressure (BiPAP) by age 11 years. Intermediate COL6-RD is characterized by independent ambulation past age 11 years and respiratory insufficiency that is later in onset than in UCMD and results in the need for NIV in the form of BiPAP by the late teens to early 20s. In contrast to individuals with Bethlem muscular dystrophy, those with intermediate COL6-RD typically do not achieve the ability to run, jump, or climb stairs without use of a railing."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1503"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301676"}, {"source": "BookShelf", "value": "NBK1503"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "21078917"}], "type": "practice guideline", "abbrev": "Int'l SCC for CMD, 2010"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0009681"}, {"db": "MedGen", "id": "C0410179"}, {"db": "Orphanet", "id": "75840"}, {"db": "OMIM", "id": "254090", "type": "MIM"}]}], "id": 6476}, "date_created": "2016-10-23", "date_last_updated": "2022-04-23", "id": 620031}, "record_status": "current", "title": "NM_001849.4(COL6A2):c.2040dup (p.Ile681fs) AND Ullrich congenital muscular dystrophy 1", "clinvar_assertions": [{"id": 619944, "submission_id": {"local_key": "chr21:47545768insT", "submitter": "Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS", "submitted_assembly": "GRCh37", "submitter_date": "2016-06-27"}, "clinvar_accession": {"acc": "SCV000323245", "version": 1, "type": "SCV", "date_updated": "2016-10-23", "date_created": "2016-10-23", "org_id": "505641", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["likely pathogenic"], "date_last_evaluated": "2014-01-01"}], "observed_in": [{"sample": {"origin": "unknown", "geographic_origin": "India", "species": {"value": "human", "taxonomy_id": 9606}, "age": [{"age_unit": "years", "value": 0, "type": "minimum"}, {"age_unit": "years", "value": 9, "type": "maximum"}], "affected_status": "yes", "number_tested": 1, "gender": "female", "proband": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "Homozygote", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Failure to thrive"}}], "xrefs": [{"db": "HP", "id": "HP:0001508"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Neonatal hypotonia"}}], "xrefs": [{"db": "HP", "id": "HP:0001319"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Proximal muscle weakness"}}], "xrefs": [{"db": "HP", "id": "HP:0003701"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_001849.3:c.2040dupT"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "COL6A2"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "254090", "type": "MIM"}]}]}, "study_description": "Identfication of novel variants using exome sequencing in Mendelian Disorders.", "comments": [{"text": "Indel variant"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000050247", "version": 1, "type": "RCV", "date_updated": "2022-06-05", "date_created": "2013-09-05"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2013-04-22"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "inherited", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "family_data": {"num_families": 2}}, "methods": ["case-control"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 6}}]}], "measures": {"type": "Variant", "acc": "VCV000056966", "version": 1, "measures": [{"type": "indel", "attributes": [{"type": "HGVS, genomic, RefSeqGene", "value": "NG_021416.1:g.615_8308delinsAGAGATCCA"}, {"type": "HGVS, genomic, top level", "value": "NC_000007.14:g.30959635_30967328delinsAGAGATCCA", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000007.13:g.30999250_31006943delinsAGAGATCCA", "integer_value": 37}], "cytogenic_locations": ["7p14.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 30959635, "stop": 30967328, "display_start": 30959635, "display_stop": 30967328, "variant_length": 7694, "alternate_allele": "AGAGATCCA", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 30959635, "reference_allele_vcf": "TTGCCAGTACAATGTTGAAGACAAAGCATGATCAAAGCAATGACTACAAAGAGGTAGAAGTGGTCCTGTCAAAGCAAAAGCAGACCGGTCAAGAGCAAAATTCATGATGAAAACAGTTTTGGGGATGCTTGAGGTATTTTGCAGGTTGACTTTCTGGGGAGCCAAAGAACGATAACATCTGCTTATTGTGAAAATGTTTTGAGATAGCCAAAGCTTTAGCAGAAAAATGCCCAGGAAACCTTCACTAGAGAATCCTTCTCCACCACCACAATACTCCTGTTCATTCTTCTCATCAAACAAGGCCAGTTTTGCGAGAGTTTTGATAGGAAATCATTACACATCCACCTCACAGCCATGATTTGGCTTTTCATGATGTCTTTTTGTTTTCTAATCTTAAAAAATCTTTTAAGGGCACTCATTTTTCTTTAGGTAGTAATGTAAAAAAGACTGCATTGACATGGCTAAATTCCCAGGACTCTCAGTGTTTTAGGGATGGATTACATGGTTGGTATCATTGCTTACAAAAGTGTCTTGAAAGCTTATGTTGAGAAATAAAGTTTATATTTTTTATTTTTTAATTCCATATTTCCATGAACTTTGTGAAATCCTCTTGTACAAATAGATTTAGTTCATACCTTTTAACCGCTCAGTAGTATTCCATTGTATGAATAGATCACATTTTGTTTAGCTATTCCTTTCTCATTGGACAATTGTGTTGTTTTCTGGTTTTTACTACATGTTATAAACAACACTGAACTCAGAACGCAAATACCCAGAACTGGAATTTCTGGCTTATAGGGTATGTTCATTCTTAAATTCATTAGATAATATCAAATTGTTTTTCAAAGTGGTTATACAAAATTCACTCTCATCTGCCATTTATGAATGCTCCCATTTCTTTACATTATCTTCCAGACACTGTGTTATCAGACATTAAAGTTTTAGGCAATGTATTAGGTGAAAATGGGTAGCTTATTATTATTTTTATTTTCATATTCTTTAGTATTAGGAATGTTAAACATTTCTTCATCTGTTTATTGGCCTGTATATTTCACTTCTTTTCTGAATTGTCTATTTGTATCATTTGCTCACTTTTCTGAGTTATTTTTATCTTTCTTACTGATTTTTTTCTCTTCTTTCTTTTTTTTTTTGTGACATAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAGACTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGTTGTGCACCACCAGGCCTGGCTAATTTTTGTATTTTCAGTAGAGACAAGGGTTCACCATATTGGCCAGGCTGACCTGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGACCAGCTGATTTTTAGATATTTTTAAAATACATTTTTGATACTACAGATTTGTTTGTCAGGATTGGTTGCAAATATTTCTTTCAGTTTGTAGCAGAAAAATGCTTTTAGTTTTCATCTATGGCATCCTCTCTTGAACATACATTTTAAAATGTTAATGTGGTCACACTTGATTTTTTTCTTTACGATTTTTATTTTATATGACACTCTCCTTTATTCTAAGGCCATAAACATGAATTTCTATTTTTTGAAGCATTTTTATGATTTTGTTGTTTTATAATTAGGATTTTTAACCTAGAATCTATATTTTGTAAATGTGAGCTAGAGATTCAATCTTATTTTTTTGTACAAAGAATCAGCTGTTCCAATCTTACTTGCTGTTAGTCCATCTTTGTTACATGCTGTCATAAATGATTGCCCACTGGATCTAGGCTCTGTATGAGGTTCTTTATAGTACACGGCTTTCCTTGTCCACTTATCCCACCAATCCTATAAGGAAGGTGTTAGTATCATCCCCACTTTTCAGATGGGAAAACGGAGGCTCATATGGTTTGAATGTTTTGTTCTCTCCAAATCTTATGTTGAAATAGACCTGCATTGTTGGAGGTGGGGCCTGGTGGGAGGTGTTTGCGTCATGGGGGTGGGTCCCTCATGAATGGCTTGGTGCCCTCCCCATGGTAATGAGTGAGTTCTCACTCTGCTAGTTCATGCAAGAGTTAGTAGTTTTAAAGAGCCAGCCAGACATCTCCCTTGCTCTCTTGCTCCCTCTCTCACCATGTGATACACCAGGGGTTCCCCCTTCACCTTCCAGCATGAATGGAAGCTTCTTGAGGCCCTCACCAGAAGCAGATGCCAGTGCCATGCTTCCTGTGCAGTCTGCAGAACTGTGAGCCGCAATAAACCTCTTTTTAAAAATATAATACCAAGCCTTGGGTATTCCCTTATAGCAATACAAATGTACTAACACAGAGGTTCAGAAAGGCTAAATGACTTGCCAAATGTATGACAGCTAGCAAGTGATGGAGGCAGAATTTGAATCCTGAGTGTATACAGAATTAGCTAGAGAAGACAGCTCCATGAAGAAACAGGCCTGCAGGGATCCTTGGGGAACATGTACAGTTAGAGCAGGGTTTCTCAGCCTTGGTCTTATTGATCTTTGAGACTGGATAATTCTTCATATGATCAAGGGTGGGGGCATCCTGTGCATTGTAGATGCTTAATAGCATCCCTGGTCTCTACTCATTCGATACCAGGAGCAACTCACCACCCCACTCCTCACCCTAACTCCTAGTTTTTATTTTGATAACAAAAAATGTCTCCAGACATTGCCAAATGTCCCCTAGGGAAGCAAAATTGCTCCAGGTTAGGAACCACTCGTTTAGACAGTAATAACTATTATTAATTATCACTATCAACCTCAATAATTAGCCATCATTAATGCTAATGATATTGATGCTAATTATCAACAGTGATTAATCGTAAGACTTTTTTTTCCTGGTGCTGTTGCTTCTTTGTAGCTGAGGAACAGAAGGTTCTAGCTTTCCCTTCAAGTTATACCTTTTCAGCACTCTGCTTTTCCAACCCGTGAGCTCTCAGCCTGCCAAGAGAGGAGCTCTGCTCTCCCCTAAAAGTGTAAAAGTGTGCAGAGCTCTGTGTGGCATGCTGCTTGCACCCATTTCACAGTTAAGCTCATGAAAACACTTGCACAGGATAGGAGGGTTTTGGAGCTTGGGGTGGTTCATGTTTTTGTTTCGAAATATTTTTTTTTCAGTATTTTGTTGACAATGAAGAAAAATGGAAAAATAAACCCCTGCTGATGTCAAAATAAGCCCTAAATCCAGATGTAGCGGGGGCGAGGAGCCTTCAACATTCATGATGTGATCGGGCTGTAAACATGTCTGGTGTTCTAGCACGCAGCCCAGCAGCTTCTGTGAGTGGAGACGTGCACACAAACATCAGGACCTGTCGGCTACTGGGATATTCAGGTCTTTCAGAGGTGACATCTTTGACATTTCAAAGTGCTGTGCAAGATCCAGGGGCATTTAGAACACTGTCTTTAGCCTGGCCAATGGAGACCCTGCATTTTAAAGTCTAAAACTATAATAAAAGTGACCAGGCAATGAATGTTCAATATAGTTTGCTGTGTAAGTCTTCTCATTTCTGCTACCGATGAGAGTTGTCCTCCCCCTATTCAAGATGGCTTGACCCATGAATCCTTCACAAGGCTTCCAACCAACCTCATTTTCCCCTTTTGCCGTGAGAGTTTTGGAGAGATTTTGATAAGCCCCCATGTGAAATCCAGAGCCTTGATGCTTGCAGCTTCAGCTCACCATCCAGGCCAGCGTCCTTGCCCAGTAAAGGACCCAGGTCTTGCTGAAATGACACATTCCTGGCCAGCCCATGCCAGTGCTTACAGATCATACTTCCTTTCCTAAGACCATTCCAACCCTCCATCTCCACTAATACCATACCCTTCCCCTTCCCCACCAGTTCCACACAGCTCTGACCTCACTCTCCAGCCCTGTGGATGAGGCTAGGAGCACACATCAAATAACCTGGGAGCTTCCCAAGGGCAGGCCCAGGTCCCCTTCCTATTCTTTAAGATCCCATCAATCTGAGGGGTCACTCCAATGATGGCCACCAGAGACCTGGGCTTAGAGAAGAAAGTGGTAGAGAATATTGACCAAGTGACCTGTGGCTGTCACCTCTCTGGGCCCTTGCTATCAGGACAGACACACAAGCAGACTTATAGCCAGAGTAGAAGGCGATGAGGGTGGGGGCTCAGCCCCTGCCTGCTGGAAACAGAGTCCCACCTCAGGGTCAATGCTGAGCTGGGCAGGTGTCCTGCAATCCTGGTGAATATTCAGCGGTCTGTGTCCCCTTGGCTAGCTCCTGCCTATGCAAACAGCCACCTGAGAAGGGGAAGCAGAGGGTGCGGTGGAAACGGCTGTGTCAGGGGACAGCAGGGGAAGGAAGATAGCCAAGGCTTACTGAGGCTGGTGGAGGGAGCCACTGCTGGGCTCACCATGGACCGCCGGATGTGGGGGGCCCACGTCTTCTGCGTGTTGAGCCCGTTACCGACCGTGAGTAGCCAGCTGAGACCCTCTGGCCTCTGCCACTGGGCTCCAGATTTGGGAGCCACAGGGCCAACTGGAGCCTGGCGGAGACCCTACTGCCCTTCTCCTGCTCTAGAGTCCCTCCCTACGAGCAGGTGGCAGGCTGTGGCTTGGAGAGCCCCTGACACTGGGGCTCCCTCCCTCATCTCCCTCTGCCCAGCAATCTGTAGTGACTCTGGGTAGTGCTATTAACATGTCCTTCCAGGGGCTGAGCTGAGCTCACCTTCTTGTTGCTTCCCCCAGGGCCTGGCTGTGCCTCTGGGGGCCACAGAGACTCTGTCTGCCACAAGACAGTGCCTCAGAATTGGTGAGGCAAAGTCAGGCTCCCCTCTTAGTCCCTGCAGTTTGCTCTTTCTCTCAGCTGTGCACCTGTGATGCTTCCACACGCTCCTGTGGTAAGCTTTCTGGACCCTTCCTTAGCCCTATGACTCCCTGAGCCACTCTCCAGTTTGGTGGTTTCCTTTGAAGAGGGTGTGGCCAGGGAAGGAATGGAACCTAAGGAGTTGGTGGAGACCAGCTGCTTCTGCTCCAGCACTTAGGGGATCCATCATCTTCTCACGATGCTGAGGGCTGGAGAGGCTTTTGGCAACCAAATTGTACTCCATGGGCTAGAGCGCTGGAGCACGGGGCATCAGGAGAGAGGGCCCTTCCTGAATGGGCTGCAGTTTCCCAGTAACTTTCCAGGAGGTTACTGCAAGTGACAGCAGGGACCAGGCTGGGAGTCACAAGGTTCTGGGATGGTGAGGGCCTGAAGCATTCTTCCTCCGCTGCCTTATTGGAGGGTGCTGCCCCTCCCGAGCACCTTGCTGCACCTGCTCCTGAGTGCACAGGCTTTGAGCTTGAATCCTGGACGCATGAAACTAGCCGTGTGAACTGCAAGTTCCTCAGCCTTCCTGAGTCTTGCTTTTATCTCTTTTGTTAAAAGAGAAAATATCCGCTGGCCCGGGTCACTGTGCATTGAGTGGAATCTGATTTGTCAAGGGCTGGGCATAGGGGTGCAACACAGGAAACTTCGACTGCCCCCCTGTCTGCCATCTGTGTGCACTCTACAGCAAAAGCTTTATTTTTAGCAGGGGTACCCAAGATCTGGTGGTGGCCATTCAGCAGATGGTGCTAGTACCAAAGCTAGAACTCAATCACTGTTTGCCAGTGTGGGCATCATCCCCTGCAGATACCAGGAAGAGCAGCAGGCATAGATGCAAGGCCTGGGGGTCCAGGGCGATGGAGCCTCCCCTCAGGGGTGGGTGGGGTCCACGATGTGTGTGGGGGGGTGACTGGGAGCCCCAGGATGTGTTTCGCCAGTCCTAATTCAGCAGGAGCATTTGGATAAATCTTAGAACGATCTATCCTTCCACTCCCACCACTTCCCTCCCTAGAATCTCTCCTTACATCTGGCCCTATGCCCACACATCCTGAGTCATTAGTGGGGCTTCTCTGAATTTCCCTCCTTCTCTTAGAGGTGTGGGCACTGTCTGTTCATCCTTTTGGCATGAGGCTGCTCTCCTGGCATCCTTTGCCCTCAGTTGCTTCCCCAAATTGGCCCTGAAAAGTTTCCCAGGCAGGGTTGGGGCTTGCCAGACTGTGCAGTAGGCAGAAGGATAGGCAGAGACCACAGCTCTTCCAACAGCCCAGGGTCAATATCAGGCTGATGGTGTGAGAAAGTCCCATACAGGCCCATCTGCCCTCCTGCTCTTCCTTCCCCGCTTTGTGCGCTCAGTCTGTTGGGAGATGTAGGGGAGACGCAACGGGGCTCTGCCCTGAGATGGACCTGAGGTTACTGAGTCCTCGGGAGGAAGCCAAGAGCTGAGTCCGGGGCACCCACCAAAATAAGACCTGGAGCCTGGGTAGTGGGTGACATCTGCACCCTGGGGCCTTGCAGGGCCAGGCAGGAGATGGCAGAGCTGCGTCCAAGCCATGGACCCATGGGGTCAGCAGGGCGGGACAGGAGTGACTTCTCCTGCCAGGGTAGCACTGGTGGGGGTGACCCTCCTTACTGGGCTGGCTCTCCAGATTTTCTCCTATCCCACAAATCTGCGGCAGAGCTCTCGGGTCTCTCCACGTGGTCACCCACCATCTATTGTCCCCACTCTGGTGGTCAAAGTCTCTACTCTCTGACCCCAGCCCTGGTCTTACATCTGCTACACTATTTGCTGTGCCTGCATTTCTCCCAAAGAACACTAGCTGTTAATTAAACATTTGCTGACATGGATCCTGCTAGACATTGAGGGTGTGTGTGTGTGGGGTGGGGGTGGGGGCCATGGGGAGAGAAACATTAGTCCTGAGCTGATACTTCCCAAATACACCTTTTCCCACTTCCCTTGTCCTTGCACATGCTGTGCTTTCTGTTCCAGATGCTCTTCTCCCCACTGTGTGTGTCTGGCTCTAAAAAATGCTCCCTTGTCCCCAGGTCCAGCTCAAATGCCACCTCCCCAATCCCTGTGAGAGGGACATTCCCTCCCATGGTACCTGTCTTGCTTCTTTTTGTTTTTTTTTTGTTTTTCTGAGATGGAGTCTCACTTTATCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGTAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGCGTGTCATCACACCCAGCTAATTTTTGTATTTTTGTAGAGATAGTGTTTTGCCACATTGGTCAGGCTGGTGTTTAACTCCTGACGTCAGGTGATCCGCCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCCTGTCCTGCTTCTGATCACAGTTTGCGCAGGGTCTATTAGGATCCAGCCCTTCTCCCTTCCCCAGCCCCTCCTCTCCTGTGAAAGCCTGGGGGAACAGACATCTACACTGGTTGACTTGGATGTGTGTTTTATACAAAAATGTGTATGCTGTATACCCAGTTCACAGTGCAGAAAGTATGTTTTGTAAACTTGGCTTCCCTTGTATGTATCTGTTTGGGCTCTGGCCTGCTGGGCGATCAGTTTTGGTTTTCCTTCGGTTTGGGGCGGTGGGAGGGAGAAGTGCTAGAAATTCCTGCTGTTCACTTCCAGTTTCCTGGAGAACTTGTTAAAATACAAAGTGCTGGATCCACCCTAGATCTCTACATATTCCTGCTTCCATCCCAAT", "alternate_allele_vcf": "AGAGATCCA"}, {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "start": 30999250, "stop": 31006943, "display_start": 30999250, "display_stop": 31006943, "variant_length": 7694, "alternate_allele": "AGAGATCCA", "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 30999250, "reference_allele_vcf": "TTGCCAGTACAATGTTGAAGACAAAGCATGATCAAAGCAATGACTACAAAGAGGTAGAAGTGGTCCTGTCAAAGCAAAAGCAGACCGGTCAAGAGCAAAATTCATGATGAAAACAGTTTTGGGGATGCTTGAGGTATTTTGCAGGTTGACTTTCTGGGGAGCCAAAGAACGATAACATCTGCTTATTGTGAAAATGTTTTGAGATAGCCAAAGCTTTAGCAGAAAAATGCCCAGGAAACCTTCACTAGAGAATCCTTCTCCACCACCACAATACTCCTGTTCATTCTTCTCATCAAACAAGGCCAGTTTTGCGAGAGTTTTGATAGGAAATCATTACACATCCACCTCACAGCCATGATTTGGCTTTTCATGATGTCTTTTTGTTTTCTAATCTTAAAAAATCTTTTAAGGGCACTCATTTTTCTTTAGGTAGTAATGTAAAAAAGACTGCATTGACATGGCTAAATTCCCAGGACTCTCAGTGTTTTAGGGATGGATTACATGGTTGGTATCATTGCTTACAAAAGTGTCTTGAAAGCTTATGTTGAGAAATAAAGTTTATATTTTTTATTTTTTAATTCCATATTTCCATGAACTTTGTGAAATCCTCTTGTACAAATAGATTTAGTTCATACCTTTTAACCGCTCAGTAGTATTCCATTGTATGAATAGATCACATTTTGTTTAGCTATTCCTTTCTCATTGGACAATTGTGTTGTTTTCTGGTTTTTACTACATGTTATAAACAACACTGAACTCAGAACGCAAATACCCAGAACTGGAATTTCTGGCTTATAGGGTATGTTCATTCTTAAATTCATTAGATAATATCAAATTGTTTTTCAAAGTGGTTATACAAAATTCACTCTCATCTGCCATTTATGAATGCTCCCATTTCTTTACATTATCTTCCAGACACTGTGTTATCAGACATTAAAGTTTTAGGCAATGTATTAGGTGAAAATGGGTAGCTTATTATTATTTTTATTTTCATATTCTTTAGTATTAGGAATGTTAAACATTTCTTCATCTGTTTATTGGCCTGTATATTTCACTTCTTTTCTGAATTGTCTATTTGTATCATTTGCTCACTTTTCTGAGTTATTTTTATCTTTCTTACTGATTTTTTTCTCTTCTTTCTTTTTTTTTTTGTGACATAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTTACTGCAGACTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGTTGTGCACCACCAGGCCTGGCTAATTTTTGTATTTTCAGTAGAGACAAGGGTTCACCATATTGGCCAGGCTGACCTGGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACTGGCGTGAGCCACCACGACCAGCTGATTTTTAGATATTTTTAAAATACATTTTTGATACTACAGATTTGTTTGTCAGGATTGGTTGCAAATATTTCTTTCAGTTTGTAGCAGAAAAATGCTTTTAGTTTTCATCTATGGCATCCTCTCTTGAACATACATTTTAAAATGTTAATGTGGTCACACTTGATTTTTTTCTTTACGATTTTTATTTTATATGACACTCTCCTTTATTCTAAGGCCATAAACATGAATTTCTATTTTTTGAAGCATTTTTATGATTTTGTTGTTTTATAATTAGGATTTTTAACCTAGAATCTATATTTTGTAAATGTGAGCTAGAGATTCAATCTTATTTTTTTGTACAAAGAATCAGCTGTTCCAATCTTACTTGCTGTTAGTCCATCTTTGTTACATGCTGTCATAAATGATTGCCCACTGGATCTAGGCTCTGTATGAGGTTCTTTATAGTACACGGCTTTCCTTGTCCACTTATCCCACCAATCCTATAAGGAAGGTGTTAGTATCATCCCCACTTTTCAGATGGGAAAACGGAGGCTCATATGGTTTGAATGTTTTGTTCTCTCCAAATCTTATGTTGAAATAGACCTGCATTGTTGGAGGTGGGGCCTGGTGGGAGGTGTTTGCGTCATGGGGGTGGGTCCCTCATGAATGGCTTGGTGCCCTCCCCATGGTAATGAGTGAGTTCTCACTCTGCTAGTTCATGCAAGAGTTAGTAGTTTTAAAGAGCCAGCCAGACATCTCCCTTGCTCTCTTGCTCCCTCTCTCACCATGTGATACACCAGGGGTTCCCCCTTCACCTTCCAGCATGAATGGAAGCTTCTTGAGGCCCTCACCAGAAGCAGATGCCAGTGCCATGCTTCCTGTGCAGTCTGCAGAACTGTGAGCCGCAATAAACCTCTTTTTAAAAATATAATACCAAGCCTTGGGTATTCCCTTATAGCAATACAAATGTACTAACACAGAGGTTCAGAAAGGCTAAATGACTTGCCAAATGTATGACAGCTAGCAAGTGATGGAGGCAGAATTTGAATCCTGAGTGTATACAGAATTAGCTAGAGAAGACAGCTCCATGAAGAAACAGGCCTGCAGGGATCCTTGGGGAACATGTACAGTTAGAGCAGGGTTTCTCAGCCTTGGTCTTATTGATCTTTGAGACTGGATAATTCTTCATATGATCAAGGGTGGGGGCATCCTGTGCATTGTAGATGCTTAATAGCATCCCTGGTCTCTACTCATTCGATACCAGGAGCAACTCACCACCCCACTCCTCACCCTAACTCCTAGTTTTTATTTTGATAACAAAAAATGTCTCCAGACATTGCCAAATGTCCCCTAGGGAAGCAAAATTGCTCCAGGTTAGGAACCACTCGTTTAGACAGTAATAACTATTATTAATTATCACTATCAACCTCAATAATTAGCCATCATTAATGCTAATGATATTGATGCTAATTATCAACAGTGATTAATCGTAAGACTTTTTTTTCCTGGTGCTGTTGCTTCTTTGTAGCTGAGGAACAGAAGGTTCTAGCTTTCCCTTCAAGTTATACCTTTTCAGCACTCTGCTTTTCCAACCCGTGAGCTCTCAGCCTGCCAAGAGAGGAGCTCTGCTCTCCCCTAAAAGTGTAAAAGTGTGCAGAGCTCTGTGTGGCATGCTGCTTGCACCCATTTCACAGTTAAGCTCATGAAAACACTTGCACAGGATAGGAGGGTTTTGGAGCTTGGGGTGGTTCATGTTTTTGTTTCGAAATATTTTTTTTTCAGTATTTTGTTGACAATGAAGAAAAATGGAAAAATAAACCCCTGCTGATGTCAAAATAAGCCCTAAATCCAGATGTAGCGGGGGCGAGGAGCCTTCAACATTCATGATGTGATCGGGCTGTAAACATGTCTGGTGTTCTAGCACGCAGCCCAGCAGCTTCTGTGAGTGGAGACGTGCACACAAACATCAGGACCTGTCGGCTACTGGGATATTCAGGTCTTTCAGAGGTGACATCTTTGACATTTCAAAGTGCTGTGCAAGATCCAGGGGCATTTAGAACACTGTCTTTAGCCTGGCCAATGGAGACCCTGCATTTTAAAGTCTAAAACTATAATAAAAGTGACCAGGCAATGAATGTTCAATATAGTTTGCTGTGTAAGTCTTCTCATTTCTGCTACCGATGAGAGTTGTCCTCCCCCTATTCAAGATGGCTTGACCCATGAATCCTTCACAAGGCTTCCAACCAACCTCATTTTCCCCTTTTGCCGTGAGAGTTTTGGAGAGATTTTGATAAGCCCCCATGTGAAATCCAGAGCCTTGATGCTTGCAGCTTCAGCTCACCATCCAGGCCAGCGTCCTTGCCCAGTAAAGGACCCAGGTCTTGCTGAAATGACACATTCCTGGCCAGCCCATGCCAGTGCTTACAGATCATACTTCCTTTCCTAAGACCATTCCAACCCTCCATCTCCACTAATACCATACCCTTCCCCTTCCCCACCAGTTCCACACAGCTCTGACCTCACTCTCCAGCCCTGTGGATGAGGCTAGGAGCACACATCAAATAACCTGGGAGCTTCCCAAGGGCAGGCCCAGGTCCCCTTCCTATTCTTTAAGATCCCATCAATCTGAGGGGTCACTCCAATGATGGCCACCAGAGACCTGGGCTTAGAGAAGAAAGTGGTAGAGAATATTGACCAAGTGACCTGTGGCTGTCACCTCTCTGGGCCCTTGCTATCAGGACAGACACACAAGCAGACTTATAGCCAGAGTAGAAGGCGATGAGGGTGGGGGCTCAGCCCCTGCCTGCTGGAAACAGAGTCCCACCTCAGGGTCAATGCTGAGCTGGGCAGGTGTCCTGCAATCCTGGTGAATATTCAGCGGTCTGTGTCCCCTTGGCTAGCTCCTGCCTATGCAAACAGCCACCTGAGAAGGGGAAGCAGAGGGTGCGGTGGAAACGGCTGTGTCAGGGGACAGCAGGGGAAGGAAGATAGCCAAGGCTTACTGAGGCTGGTGGAGGGAGCCACTGCTGGGCTCACCATGGACCGCCGGATGTGGGGGGCCCACGTCTTCTGCGTGTTGAGCCCGTTACCGACCGTGAGTAGCCAGCTGAGACCCTCTGGCCTCTGCCACTGGGCTCCAGATTTGGGAGCCACAGGGCCAACTGGAGCCTGGCGGAGACCCTACTGCCCTTCTCCTGCTCTAGAGTCCCTCCCTACGAGCAGGTGGCAGGCTGTGGCTTGGAGAGCCCCTGACACTGGGGCTCCCTCCCTCATCTCCCTCTGCCCAGCAATCTGTAGTGACTCTGGGTAGTGCTATTAACATGTCCTTCCAGGGGCTGAGCTGAGCTCACCTTCTTGTTGCTTCCCCCAGGGCCTGGCTGTGCCTCTGGGGGCCACAGAGACTCTGTCTGCCACAAGACAGTGCCTCAGAATTGGTGAGGCAAAGTCAGGCTCCCCTCTTAGTCCCTGCAGTTTGCTCTTTCTCTCAGCTGTGCACCTGTGATGCTTCCACACGCTCCTGTGGTAAGCTTTCTGGACCCTTCCTTAGCCCTATGACTCCCTGAGCCACTCTCCAGTTTGGTGGTTTCCTTTGAAGAGGGTGTGGCCAGGGAAGGAATGGAACCTAAGGAGTTGGTGGAGACCAGCTGCTTCTGCTCCAGCACTTAGGGGATCCATCATCTTCTCACGATGCTGAGGGCTGGAGAGGCTTTTGGCAACCAAATTGTACTCCATGGGCTAGAGCGCTGGAGCACGGGGCATCAGGAGAGAGGGCCCTTCCTGAATGGGCTGCAGTTTCCCAGTAACTTTCCAGGAGGTTACTGCAAGTGACAGCAGGGACCAGGCTGGGAGTCACAAGGTTCTGGGATGGTGAGGGCCTGAAGCATTCTTCCTCCGCTGCCTTATTGGAGGGTGCTGCCCCTCCCGAGCACCTTGCTGCACCTGCTCCTGAGTGCACAGGCTTTGAGCTTGAATCCTGGACGCATGAAACTAGCCGTGTGAACTGCAAGTTCCTCAGCCTTCCTGAGTCTTGCTTTTATCTCTTTTGTTAAAAGAGAAAATATCCGCTGGCCCGGGTCACTGTGCATTGAGTGGAATCTGATTTGTCAAGGGCTGGGCATAGGGGTGCAACACAGGAAACTTCGACTGCCCCCCTGTCTGCCATCTGTGTGCACTCTACAGCAAAAGCTTTATTTTTAGCAGGGGTACCCAAGATCTGGTGGTGGCCATTCAGCAGATGGTGCTAGTACCAAAGCTAGAACTCAATCACTGTTTGCCAGTGTGGGCATCATCCCCTGCAGATACCAGGAAGAGCAGCAGGCATAGATGCAAGGCCTGGGGGTCCAGGGCGATGGAGCCTCCCCTCAGGGGTGGGTGGGGTCCACGATGTGTGTGGGGGGGTGACTGGGAGCCCCAGGATGTGTTTCGCCAGTCCTAATTCAGCAGGAGCATTTGGATAAATCTTAGAACGATCTATCCTTCCACTCCCACCACTTCCCTCCCTAGAATCTCTCCTTACATCTGGCCCTATGCCCACACATCCTGAGTCATTAGTGGGGCTTCTCTGAATTTCCCTCCTTCTCTTAGAGGTGTGGGCACTGTCTGTTCATCCTTTTGGCATGAGGCTGCTCTCCTGGCATCCTTTGCCCTCAGTTGCTTCCCCAAATTGGCCCTGAAAAGTTTCCCAGGCAGGGTTGGGGCTTGCCAGACTGTGCAGTAGGCAGAAGGATAGGCAGAGACCACAGCTCTTCCAACAGCCCAGGGTCAATATCAGGCTGATGGTGTGAGAAAGTCCCATACAGGCCCATCTGCCCTCCTGCTCTTCCTTCCCCGCTTTGTGCGCTCAGTCTGTTGGGAGATGTAGGGGAGACGCAACGGGGCTCTGCCCTGAGATGGACCTGAGGTTACTGAGTCCTCGGGAGGAAGCCAAGAGCTGAGTCCGGGGCACCCACCAAAATAAGACCTGGAGCCTGGGTAGTGGGTGACATCTGCACCCTGGGGCCTTGCAGGGCCAGGCAGGAGATGGCAGAGCTGCGTCCAAGCCATGGACCCATGGGGTCAGCAGGGCGGGACAGGAGTGACTTCTCCTGCCAGGGTAGCACTGGTGGGGGTGACCCTCCTTACTGGGCTGGCTCTCCAGATTTTCTCCTATCCCACAAATCTGCGGCAGAGCTCTCGGGTCTCTCCACGTGGTCACCCACCATCTATTGTCCCCACTCTGGTGGTCAAAGTCTCTACTCTCTGACCCCAGCCCTGGTCTTACATCTGCTACACTATTTGCTGTGCCTGCATTTCTCCCAAAGAACACTAGCTGTTAATTAAACATTTGCTGACATGGATCCTGCTAGACATTGAGGGTGTGTGTGTGTGGGGTGGGGGTGGGGGCCATGGGGAGAGAAACATTAGTCCTGAGCTGATACTTCCCAAATACACCTTTTCCCACTTCCCTTGTCCTTGCACATGCTGTGCTTTCTGTTCCAGATGCTCTTCTCCCCACTGTGTGTGTCTGGCTCTAAAAAATGCTCCCTTGTCCCCAGGTCCAGCTCAAATGCCACCTCCCCAATCCCTGTGAGAGGGACATTCCCTCCCATGGTACCTGTCTTGCTTCTTTTTGTTTTTTTTTTGTTTTTCTGAGATGGAGTCTCACTTTATCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGCTCACTGTAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGCGTGTCATCACACCCAGCTAATTTTTGTATTTTTGTAGAGATAGTGTTTTGCCACATTGGTCAGGCTGGTGTTTAACTCCTGACGTCAGGTGATCCGCCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCCTGTCCTGCTTCTGATCACAGTTTGCGCAGGGTCTATTAGGATCCAGCCCTTCTCCCTTCCCCAGCCCCTCCTCTCCTGTGAAAGCCTGGGGGAACAGACATCTACACTGGTTGACTTGGATGTGTGTTTTATACAAAAATGTGTATGCTGTATACCCAGTTCACAGTGCAGAAAGTATGTTTTGTAAACTTGGCTTCCCTTGTATGTATCTGTTTGGGCTCTGGCCTGCTGGGCGATCAGTTTTGGTTTTCCTTCGGTTTGGGGCGGTGGGAGGGAGAAGTGCTAGAAATTCCTGCTGTTCACTTCCAGTTTCCTGGAGAACTTGTTAAAATACAAAGTGCTGGATCCACCCTAGATCTCTACATATTCCTGCTTCCATCCCAAT", "alternate_allele_vcf": "AGAGATCCA"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "growth hormone releasing hormone receptor"}}], "symbols": [{"value": {"type": "Preferred", "value": "GHRHR"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 30963953, "stop": 30979528, "display_start": 30963953, "display_stop": 30979528, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "start": 31003635, "stop": 31019145, "display_start": 31003635, "display_stop": 31019145, "strand": "+", "variant_length": 15511, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "2692"}, {"db": "OMIM", "id": "139191", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:4266"}]}], "comments": [{"text": "Deletion of exon 1 from GHRHR plus flanking intronic sequences.", "type": "public", "datasource": "NCBI curation"}], "id": 71561}], "names": [{"value": {"type": "Preferred", "value": "Single allele"}}], "xrefs": [{"db": "ClinGen", "id": "CA144520"}], "id": 56966}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Isolated growth hormone deficiency type IB"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0013006"}]}, {"value": {"type": "Alternate", "value": "IGHD IB"}, "xrefs": [{"db": "OMIM", "id": "612781", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Isolated growth hormone deficiency type 1B"}, "xrefs": [{"db": "Genetic Alliance", "id": "Isolated+growth+hormone+deficiency+type+1B/3883"}]}, {"value": {"type": "Alternate", "value": "IGHD 1B"}}], "symbols": [{"value": {"type": "Preferred", "value": "IGHD1B"}, "xrefs": [{"db": "OMIM", "id": "612781", "type": "MIM"}]}], "attributes": [{"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "3919"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0013006"}, {"db": "MedGen", "id": "C2748571"}, {"db": "Orphanet", "id": "631"}, {"db": "OMIM", "id": "612781", "type": "MIM"}]}], "id": 5192}, "date_created": "2013-09-05", "date_last_updated": "2022-06-05", "id": 133514}, "record_status": "current", "title": "Single allele AND Isolated growth hormone deficiency type IB", "clinvar_assertions": [{"id": 133513, "submission_id": {"local_key": "Indel -1", "submitter": "Endocrinology Clinic, Seth G.S. Medical College", "submitter_date": "2013-11-13"}, "clinvar_accession": {"acc": "SCV000082856", "version": 2, "type": "SCV", "date_updated": "2013-09-05", "date_created": "2013-09-05", "org_id": "500130", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "comments": [{"text": "Converted during submission to Pathogenic."}], "date_last_evaluated": "2013-04-22"}], "external_ids": [{"db": "Department of Endocrinology, Seth G.S. Medical College and K.E.M. Hospital", "id": "Indel -1"}], "attributes": [{"attribute": {"type": "ModeOfInheritance", "value": "Autosomal recessive inheritance"}}], "observed_in": [{"sample": {"origin": "inherited", "tissue": "blood", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "gender": "mixed", "family_data": {"family_history": "yes", "num_families": 2, "num_families_with_variant": 2, "num_families_with_segregation_observed": 2}}, "methods": ["case-control"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 6}}, {"attribute": {"type": "Homozygote", "integer_value": 3}}, {"attribute": {"type": "SingleHeterozygote", "integer_value": 3}}, {"attribute": {"type": "CompoundHeterozygote", "integer_value": 1}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NC_000007.13:g.30999250_31006943delinsAGAGATCCA"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "GHRHR"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "Isolated growth hormone deficiency type 1B"}}], "xrefs": [{"db": "OMIM", "id": "612781", "type": "MIM"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000416351", "version": 3, "type": "RCV", "date_updated": "2022-09-24", "date_created": "2017-01-30"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "likely pathogenic", "date_last_evaluated": "2016-01-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}, {"attribute": {"type": "FamilyHistory", "value": "yes"}}]}], "measures": {"type": "Variant", "acc": "VCV000375296", "version": 3, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "NM_020964.3(EPG5):c.4665del (p.Glu1555fs)"}}], "canonical_spdi": "NC_000018.10:45899547:TT:T", "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_1234t1:c.4665del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_020964.3:c.4665del"}, {"type": "HGVS, genomic, LRG", "value": "LRG_1234:g.72792del"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_042838.1:g.72792del"}, {"type": "HGVS, genomic, top level", "value": "NC_000018.10:g.45899549del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000018.9:g.43479514del", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_020964.2:c.4665delA"}, {"type": "HGVS, protein", "value": "LRG_1234p1:p.Glu1555fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_066015.2:p.Glu1555fs"}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_020964.3:c.4665del"}]}, {"type": "ProteinChange1LetterCode", "value": "E1555fs"}], "cytogenic_locations": ["18q12.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "18", "accession": "NC_000018.10", "start": 45899548, "stop": 45899548, "display_start": 45899548, "display_stop": 45899548, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 45899547, "reference_allele_vcf": "AT", "alternate_allele_vcf": "A"}, {"assembly": "GRCh37", "chr": "18", "accession": "NC_000018.9", "start": 43479513, "stop": 43479513, "display_start": 43479513, "display_stop": 43479513, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 43479512, "reference_allele_vcf": "AT", "alternate_allele_vcf": "A"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "ectopic P-granules 5 autophagy tethering factor"}}], "symbols": [{"value": {"type": "Preferred", "value": "EPG5"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "18", "accession": "NC_000018.10", "start": 45800581, "stop": 45967329, "display_start": 45800581, "display_stop": 45967329, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "18", "accession": "NC_000018.9", "start": 43427573, "stop": 43547304, "display_start": 43427573, "display_stop": 43547304, "strand": "-", "variant_length": 119732, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "57724"}, {"db": "OMIM", "id": "615068", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:29331"}]}], "xrefs": [{"db": "dbSNP", "id": "1057519318", "type": "rs"}], "id": 362072}], "names": [{"value": {"type": "Preferred", "value": "NM_020964.3(EPG5):c.4665del (p.Glu1555fs)"}}], "xrefs": [{"db": "ClinGen", "id": "CA16044048"}], "id": 375296}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Vici syndrome"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0009452"}]}, {"value": {"type": "Alternate", "value": "Absent corpus callosum cataract immunodeficiency"}, "xrefs": [{"db": "Genetic Alliance", "id": "Absent+Corpus+Callosum+Cataract+Immunodeficiency/81"}]}, {"value": {"type": "Alternate", "value": "Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum"}}], "symbols": [{"value": {"type": "Preferred", "value": "VICIS"}, "xrefs": [{"db": "OMIM", "id": "242840", "type": "MIM"}]}], "attributes": [{"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "448"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0009452"}, {"db": "MedGen", "id": "C1855772"}, {"db": "Orphanet", "id": "1493"}, {"db": "OMIM", "id": "242840", "type": "MIM"}]}], "id": 9271}, "date_created": "2017-01-30", "date_last_updated": "2022-09-24", "id": 966387}, "record_status": "current", "title": "NM_020964.3(EPG5):c.4665del (p.Glu1555fs) AND Vici syndrome", "clinvar_assertions": [{"id": 966323, "submission_id": {"local_key": "chr18:43479512delT", "submitter": "Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS", "submitted_assembly": "GRCh37", "submitter_date": "2016-12-19"}, "clinvar_accession": {"acc": "SCV000494026", "version": 1, "type": "SCV", "date_updated": "2017-01-30", "date_created": "2017-01-30", "org_id": "505641", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["likely pathogenic"], "date_last_evaluated": "2016-01-01"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "ACMG Guidelines, 2015"}, "citations": [{"ids": [{"source": "PubMed", "value": "25741868"}]}]}], "observed_in": [{"sample": {"origin": "germline", "geographic_origin": "India", "tissue": "amniotic fluid", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1, "family_data": {"family_history": "yes"}, "proband": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "Homozygote", "integer_value": 1}}], "comments": [{"text": "First child was similarly affected and expired. The present subject was a fetus of 19 weeks gestation, found similarly affected like the first child and the pregnancy was terminated. Fetus brought for autopsy and further genetic analysis."}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_020964.2:c.4665delA"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "EPG5"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "242840", "type": "MIM"}]}]}, "study_description": "Identification of novel variants in Mendelian Disorders.", "comments": [{"text": "Indel variant"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV001263497", "version": 1, "type": "RCV", "date_updated": "2022-11-19", "date_created": "2020-11-06"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "likely pathogenic"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "maternal", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000983534", "version": 1, "measures": [{"type": "indel", "names": [{"value": {"type": "Preferred", "value": "NM_005559.4(LAMA1):c.8208_8214delinsT (p.Lys2736_Ser2738delinsAsn)"}}], "canonical_spdi": "NC_000018.10:6950964:CGAGAGC:A", "attributes": [{"type": "FunctionalConsequence", "value": "functionally_abnormal", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0002218"}]}, {"type": "HGVS, coding", "value": "NM_005559.4:c.8208_8214delGCTCTCGinsT"}, {"type": "HGVS, coding, RefSeq", "value": "NM_005559.4:c.8208_8214delinsT"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_034251.1:g.171844_171850delinsT"}, {"type": "HGVS, genomic, top level", "value": "NC_000018.10:g.6950965_6950971delinsA", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000018.9:g.6950964_6950970delinsA", "integer_value": 37}, {"type": "HGVS, protein", "value": "p.Lys2736_Leu2737del"}, {"type": "HGVS, protein, RefSeq", "value": "NP_005550.2:p.Lys2736_Ser2738delinsAsn"}, {"type": "MolecularConsequence", "value": "inframe_indel", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001820"}, {"db": "RefSeq", "id": "NM_005559.4:c.8208_8214delinsT"}]}], "cytogenic_locations": ["18p11.31"], "sequence_locations": [{"assembly": "GRCh38", "chr": "18", "accession": "NC_000018.10", "start": 6950965, "stop": 6950971, "display_start": 6950965, "display_stop": 6950971, "variant_length": 7, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 6950965, "reference_allele_vcf": "CGAGAGC", "alternate_allele_vcf": "A"}, {"assembly": "GRCh37", "chr": "18", "accession": "NC_000018.9", "start": 6950964, "stop": 6950970, "display_start": 6950964, "display_stop": 6950970, "variant_length": 7, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 6950964, "reference_allele_vcf": "CGAGAGC", "alternate_allele_vcf": "A"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "laminin subunit alpha 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "LAMA1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "18", "accession": "NC_000018.10", "start": 6941742, "stop": 7117797, "display_start": 6941742, "display_stop": 7117797, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "18", "accession": "NC_000018.9", "start": 6941742, "stop": 7117812, "display_start": 6941742, "display_stop": 7117812, "strand": "-", "variant_length": 176071, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "284217"}, {"db": "OMIM", "id": "150320", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:6481"}]}], "xrefs": [{"db": "dbSNP", "id": "2057544094", "type": "rs"}], "id": 971601}], "names": [{"value": {"type": "Preferred", "value": "NM_005559.4(LAMA1):c.8208_8214delinsT (p.Lys2736_Ser2738delinsAsn)"}}], "id": 983534}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0014419"}]}, {"value": {"type": "Alternate", "value": "Poretti-Boltshauser syndrome"}}], "symbols": [{"value": {"type": "Alternate", "value": "PTBHS"}, "xrefs": [{"db": "OMIM", "id": "615960", "type": "MIM"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0014419"}, {"db": "MedGen", "id": "C4014821"}, {"db": "Orphanet", "id": "370022"}, {"db": "OMIM", "id": "615960", "type": "MIM"}]}], "id": 17513}, "date_created": "2020-11-06", "date_last_updated": "2022-11-19", "id": 2846139}, "record_status": "current", "title": "NM_005559.4(LAMA1):c.8208_8214delinsT (p.Lys2736_Ser2738delinsAsn) AND Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome", "clinvar_assertions": [{"id": 2845766, "submission_id": {"local_key": "SUB8478928", "submitter": "Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn", "title": "SUB8478928", "submitted_assembly": "GRCh37", "submitter_date": "2020-11-06"}, "clinvar_accession": {"acc": "SCV001441583", "version": 1, "type": "SCV", "date_updated": "2020-11-06", "date_created": "2020-11-06", "org_id": "507028", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["likely pathogenic"], "comments": [{"text": "Two biparental heterozygous mutations in the gene LAMA1 were found, which can sufficiently explain the phenotype: GRCh37:Chr18:6949099C>T; rs764745270 LAMA1 NM_005559.4:c.8556+1G>A and GRCh37:Chr18:6950964CGAGAGC>A LAMA1 NM_005559.4:c.8208_8214delGCTCTCGinsT; (p.Lys2736_Leu2737del) Evaluation of c.8208_8214insT in LAMA1: The maternally inherited heterozygous Indel variant CGAGAGC>A at position 6950964 on chromosome 18 was covered with 145 reads and has an AAV of 48% in the index, while the mother has an AAV of 47 with a coverage of 43 reads. The cover with the father at this position is 51 Reads assigns 100% the reference allele. The deletion of the 6bp leads to the loss of two over highly conserved amino acids across many species Serine 2737 and leucine 2738 and the sense-altering variant at position 6950970 leads to the exchange of the also highly conserved amino acid over many species Lysine to aspartic acid at position 2736 in LAMA1. Bioinformatic prediction programs like Mutation Probe and GERP classify this variant as pathogenic one. According to ACMG guidelines, c.8208_8214insT is expressed in LAMA1 is classified as probably pathogenic. Classification according to ACMG guidelines of c.8208_8214insT in LAMA1: probably pathogenic - PM1: The variant is located in a mutation hotspot - PM2: The variant was not found in population genetic studies (such as GnomAD, Iranome, GME, 1kGP, etc.) observed. - PM3: In the recessively inherited Poretti-Boltshauser syndrome this variant is in trans with a pathogenic variant (c.8556+1G>A). - PM4: The protein length changes due to deletion in a non-repetitive region of LAMA1. - PP3: Bioinformatic prediction programs such as GERP and Mutation Scanner classify this variant as pathogenic."}]}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "ACMG Guidelines, 2015"}, "citations": [{"ids": [{"source": "PubMed", "value": "25741868"}], "type": "general"}]}], "observed_in": [{"sample": {"origin": "maternal", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "gender": "female"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "CompoundHeterozygote", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0000750"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0001263"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0001290"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0001320"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0001249"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0002342"}]}, {"type": "Finding", "xrefs": [{"db": "HP", "id": "HP:0000407"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Alternate", "value": "p.Lys2736_Leu2737del"}}], "attributes": [{"type": "HGVS", "value": "NM_005559.4:c.8208_8214delGCTCTCGinsT"}, {"type": "FunctionalConsequence", "value": "functionally_abnormal", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0002218", "url": "http://www.sequenceontology.org/browser/current_svn/term/SO:0002218"}]}], "measure_relationship": [{"type": "variant in gene", "names": [{"value": {"type": "Preferred", "value": "laminin subunit alpha 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "LAMA1"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "615960"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000449494", "version": 2, "type": "RCV", "date_updated": "2022-12-17", "date_created": "2017-03-27"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "likely pathogenic", "date_last_evaluated": "2016-01-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "unknown", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}, {"attribute": {"type": "FamilyHistory", "value": "no"}}]}], "measures": {"type": "Variant", "acc": "VCV000397570", "version": 2, "measures": [{"type": "indel", "names": [{"value": {"type": "Preferred", "value": "NM_024312.5(GNPTAB):c.3250-1_3250delinsAT"}}], "canonical_spdi": "NC_000012.12:101757656:GC:AT", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_024312.5:c.3250-1_3250delinsAT"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_021243.1:g.78210_78211delinsAT"}, {"type": "HGVS, genomic, top level", "value": "NC_000012.12:g.101757657_101757658delinsAT", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000012.11:g.102151435_102151436delinsAT", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_024312.4:c.3250-1_3250delinsAT"}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_024312.5:c.3250-1_3250delinsAT"}]}], "cytogenic_locations": ["12q23.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "12", "accession": "NC_000012.12", "start": 101757657, "stop": 101757658, "display_start": 101757657, "display_stop": 101757658, "variant_length": 2, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 101757657, "reference_allele_vcf": "GC", "alternate_allele_vcf": "AT"}, {"assembly": "GRCh37", "chr": "12", "accession": "NC_000012.11", "start": 102151435, "stop": 102151436, "display_start": 102151435, "display_stop": 102151436, "variant_length": 2, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 102151435, "reference_allele_vcf": "GC", "alternate_allele_vcf": "AT"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "N-acetylglucosamine-1-phosphate transferase subunits alpha and beta"}}], "symbols": [{"value": {"type": "Preferred", "value": "GNPTAB"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "12", "accession": "NC_000012.12", "start": 101745499, "stop": 101830959, "display_start": 101745499, "display_stop": 101830959, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "12", "accession": "NC_000012.11", "start": 102139274, "stop": 102224644, "display_start": 102139274, "display_stop": 102224644, "strand": "-", "variant_length": 85371, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "79158"}, {"db": "OMIM", "id": "607840", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:29670"}]}], "xrefs": [{"db": "dbSNP", "id": "1060499687", "type": "rs"}], "id": 384456}], "names": [{"value": {"type": "Preferred", "value": "NM_024312.5(GNPTAB):c.3250-1_3250delinsAT"}}, {"value": {"type": "Preferred", "value": "NM_024312.5(GNPTAB):c.3250-1_3250delinsAT"}}], "xrefs": [{"db": "ClinGen", "id": "CA16609426"}], "id": 397570}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Mucolipidosis type II"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0009650"}]}, {"value": {"type": "Alternate", "value": "ML II ALPHA/BETA"}, "xrefs": [{"db": "OMIM", "id": "252500", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "I cell disease"}, "xrefs": [{"db": "Genetic Alliance", "id": "Mucolipidosis+II/3706"}]}, {"value": {"type": "Alternate", "value": "Mucolipidosis 2"}}, {"value": {"type": "Alternate", "value": "ML 2"}}, {"value": {"type": "Alternate", "value": "Inclusion cell disease"}}, {"value": {"type": "Alternate", "value": "Leroy Disease"}}, {"value": {"type": "Alternate", "value": "N-acetylglucosamine 1phosphotransferase deficiency"}}, {"value": {"type": "Alternate", "value": "ML disorder type 2"}}], "symbols": [{"value": {"type": "Alternate", "value": "ICD"}, "xrefs": [{"db": "OMIM", "id": "252500", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "ML II"}, "xrefs": [{"db": "OMIM", "id": "252500", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "GNPTA"}}], "attributes": [{"value": {"type": "public definition", "value": "GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis III\u03b1/\u03b2 (ML III\u03b1/\u03b2), and phenotypes intermediate between ML II and ML III\u03b1/\u03b2. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML III\u03b1/\u03b2 becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML III\u03b1/\u03b2 are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML III\u03b1/\u03b2."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1828"}]}, {"value": {"type": "keyword", "value": "GNPTAB-Related Mucolipidoses"}}, {"value": {"type": "keyword", "value": "Neoplasm"}}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "6749"}]}], "trait_relationships": [{"type": "co-occurring condition", "id": 70}], "citations": [{"ids": [{"source": "PubMed", "value": "20301728"}, {"source": "BookShelf", "value": "NBK1828"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0009650"}, {"db": "MedGen", "id": "C2673377"}, {"db": "Orphanet", "id": "576"}, {"db": "OMIM", "id": "252500", "type": "MIM"}]}, {"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Pseudo-Hurler polydystrophy"}, "xrefs": [{"db": "Genetic Alliance", "id": "Mucolipidosis+type+3A/4909"}, {"db": "SNOMED CT", "id": "65764006"}]}, {"value": {"type": "Alternate", "value": "ML III"}, "xrefs": [{"db": "OMIM", "id": "252600", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "ML III ALPHA/BETA"}, "xrefs": [{"db": "OMIM", "id": "252600", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Mucolipidosis type 3A"}}, {"value": {"type": "Alternate", "value": "ML 3 A"}}, {"value": {"type": "Alternate", "value": "Type III Mucolipidosis"}}, {"value": {"type": "Alternate", "value": "ML IIIA"}, "xrefs": [{"db": "OMIM", "id": "252600", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Mucolipidosis III Alpha/Beta"}, "xrefs": [{"db": "GeneReviews", "id": "NBK1875"}]}], "symbols": [{"value": {"type": "Preferred", "value": "ML3"}}], "attributes": [{"value": {"type": "public definition", "value": "GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis III\u03b1/\u03b2 (ML III\u03b1/\u03b2), and phenotypes intermediate between ML II and ML III\u03b1/\u03b2. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML III\u03b1/\u03b2 becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML III\u03b1/\u03b2 are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML III\u03b1/\u03b2."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1828"}]}, {"value": {"type": "keyword", "value": "GNPTAB-Related Mucolipidoses"}}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "3806"}]}], "trait_relationships": [{"type": "co-occurring condition", "id": 70}], "citations": [{"ids": [{"source": "PubMed", "value": "20301728"}, {"source": "BookShelf", "value": "NBK1828"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0018931"}, {"db": "MedGen", "id": "C0033788"}, {"db": "Orphanet", "id": "577"}, {"db": "OMIM", "id": "252600", "type": "MIM"}]}], "id": 9397}, "date_created": "2017-03-27", "date_last_updated": "2022-12-17", "id": 1039484}, "record_status": "current", "title": "NM_024312.5(GNPTAB):c.3250-1_3250delinsAT AND multiple conditions", "clinvar_assertions": [{"id": 1039386, "submission_id": {"local_key": "chr12:102151435_102151436delinsAT", "submitter": "Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS", "submitted_assembly": "GRCh37", "submitter_date": "2017-01-17"}, "clinvar_accession": {"acc": "SCV000537775", "version": 1, "type": "SCV", "date_updated": "2017-03-27", "date_created": "2017-03-27", "org_id": "505641", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["likely pathogenic"], "date_last_evaluated": "2016-01-01"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "ACMG Guidelines, 2015"}, "citations": [{"ids": [{"source": "PubMed", "value": "25741868"}]}]}], "observed_in": [{"sample": {"origin": "unknown", "geographic_origin": "India", "species": {"value": "human", "taxonomy_id": 9606}, "age": [{"age_unit": "years", "value": 0, "type": "minimum"}, {"age_unit": "years", "value": 9, "type": "maximum"}], "affected_status": "yes", "number_tested": 1, "gender": "female", "family_data": {"family_history": "no"}, "proband": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "Homozygote", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "obsolete Mental retardation, in some"}}], "xrefs": [{"db": "HP", "id": "HP:0006877"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_024312.4:c.3250-1_3250delinsAT"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "GNPTAB"}}]}]}]}, "traits": {"type": "TraitChoice", "traits": [{"xrefs": [{"db": "OMIM", "id": "252500", "type": "MIM"}]}, {"xrefs": [{"db": "OMIM", "id": "252600", "type": "MIM"}]}]}, "study_description": "Identification of novel variants using whole exome sequencing in Mendelian Disorders.", "comments": [{"text": "Indel variant"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000256437", "version": 2, "type": "RCV", "date_updated": "2023-03-11", "date_created": "2016-10-23"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "uncertain significance", "date_last_evaluated": "2016-01-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "unknown", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000266119", "version": 3, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "NM_001267550.2(TTN):c.62129dup (p.Ser20712fs)"}}], "canonical_spdi": "NC_000002.12:178589595:TT:TTT", "attributes": [{"type": "HGVS, coding", "value": "NM_001267550.2:c.62129dupA"}, {"type": "HGVS, coding, RefSeq", "value": "NM_003319.4:c.34934dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_133432.3:c.35309dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_133437.4:c.35510dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_133378.4:c.54425dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001256850.1:c.57206dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001267550.2:c.62129dup"}, {"type": "HGVS, genomic, LRG", "value": "LRG_391:g.246207dup"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_011618.3:g.246207dup"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_051363.1:g.71771dup"}, {"type": "HGVS, genomic, top level", "value": "NC_000002.12:g.178589597dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.11:g.179454324dup", "integer_value": 37}, {"type": "HGVS, protein, RefSeq", "value": "NP_003310.4:p.Ser11647fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_597676.3:p.Ser11772fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_597681.4:p.Ser11839fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_596869.4:p.Ser18144fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001243779.1:p.Ser19071fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001254479.2:p.Ser20712fs"}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_001256850.1:c.57206dup"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_001267550.2:c.62129dup"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_003319.4:c.34934dup"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_133378.4:c.54425dup"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_133432.3:c.35309dup"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_133437.4:c.35510dup"}]}, {"type": "ProteinChange1LetterCode", "value": "S11647fs"}, {"type": "ProteinChange1LetterCode", "value": "S11772fs"}, {"type": "ProteinChange1LetterCode", "value": "S11839fs"}, {"type": "ProteinChange1LetterCode", "value": "S18144fs"}, {"type": "ProteinChange1LetterCode", "value": "S19071fs"}, {"type": "ProteinChange1LetterCode", "value": "S20712fs"}], "cytogenic_locations": ["2q31.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 178589595, "stop": 178589596, "display_start": 178589595, "display_stop": 178589596, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 178589595, "reference_allele_vcf": "C", "alternate_allele_vcf": "CT"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 179454322, "stop": 179454323, "display_start": 179454322, "display_stop": 179454323, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 179454322, "reference_allele_vcf": "C", "alternate_allele_vcf": "CT"}], "measure_relationship": [{"type": "within multiple genes by overlap", "names": [{"value": {"type": "Preferred", "value": "TTN antisense RNA 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "TTN-AS1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 178522827, "stop": 178620217, "display_start": 178522827, "display_stop": 178620217, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "100506866"}, {"db": "HGNC", "id": "HGNC:44124"}]}, {"type": "within multiple genes by overlap", "names": [{"value": {"type": "Preferred", "value": "titin"}}], "symbols": [{"value": {"type": "Preferred", "value": "TTN"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 178525989, "stop": 178807423, "display_start": 178525989, "display_stop": 178807423, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 179390715, "stop": 179672149, "display_start": 179390715, "display_stop": 179672149, "strand": "-", "variant_length": 281435, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "7273"}, {"db": "OMIM", "id": "188840", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:12403"}], "comments": [{"text": "This gene is cited in the ACMG recommendations of 2021 (SF v3.0; PubMed 34012068) for reporting secondary findings in clinical exome and genome sequencing.", "type": "public", "datasource": "ClinVar"}, {"text": "This gene is cited in the ACMG recommendations of 2022 (SF v3.1; PubMed 35802134) for reporting secondary findings in clinical exome and genome sequencing.", "type": "public", "datasource": "ClinVar"}]}], "xrefs": [{"db": "dbSNP", "id": "886039913", "type": "rs"}], "id": 260934}], "names": [{"value": {"type": "Preferred", "value": "NM_001267550.2(TTN):c.62129dup (p.Ser20712fs)"}}, {"value": {"type": "Preferred", "value": "NM_001267550.2(TTN):c.62129dup (p.Ser20712fs)"}}], "xrefs": [{"db": "ClinGen", "id": "CA10588986"}], "id": 266119}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Muscular dystrophy"}, "xrefs": [{"db": "Genetic Alliance", "id": "Muscular+dystrophy/4983"}, {"db": "MONDO", "id": "MONDO:0020121"}]}], "attributes": [{"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "7922"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0020121"}, {"db": "MeSH", "id": "D009136"}, {"db": "MedGen", "id": "C0026850"}, {"db": "Human Phenotype Ontology", "id": "HP:0003560", "type": "primary"}, {"db": "Human Phenotype Ontology", "id": "HP:0003544", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0003806", "type": "secondary"}]}], "id": 20201}, "date_created": "2016-10-23", "date_last_updated": "2023-03-11", "id": 619988}, "record_status": "current", "title": "NM_001267550.2(TTN):c.62129dup (p.Ser20712fs) AND Muscular dystrophy", "clinvar_assertions": [{"id": 619954, "submission_id": {"local_key": "chr2:179454323dupT", "submitter": "Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS", "submitted_assembly": "GRCh37", "submitter_date": "2016-06-27"}, "clinvar_accession": {"acc": "SCV000323255", "version": 1, "type": "SCV", "date_updated": "2016-10-23", "date_created": "2016-10-23", "org_id": "505641", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["uncertain significance"], "date_last_evaluated": "2016-01-01"}], "observed_in": [{"sample": {"origin": "unknown", "geographic_origin": "India", "species": {"value": "human", "taxonomy_id": 9606}, "age": [{"age_unit": "years", "value": 20, "type": "minimum"}, {"age_unit": "years", "value": 29, "type": "maximum"}], "affected_status": "yes", "number_tested": 1, "gender": "male", "proband": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "SingleHeterozygote", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Muscular dystrophy"}}], "xrefs": [{"db": "HP", "id": "HP:0003560"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_001267550.2:c.62129dupA"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "TTN"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MeSH", "id": "D009136"}]}]}, "study_description": "Identfication of novel variants using exome sequencing in Mendelian Disorders.", "comments": [{"text": "Indel variant"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000005360", "version": 2, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2001-02-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Tavtigian et al. (2001) demonstrated an insertion/frameshift, 1641insG, in the ELAC2 gene in a Utah family with 8 prostate cancer cases (HPC2; 614731) in 3 generations. Insertion of a nucleotide between residues 1641 and 1642 shifted the reading frame after leu547, leading to termination after the miscoding of 67 residues. The mutation segregated with disease in this family."}, "citations": [{"ids": [{"source": "PubMed", "value": "11175785"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000005057", "version": 1, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "NM_018127.6(ELAC2):c.1641dup (p.His548Alafs)"}}], "canonical_spdi": "NC_000017.11:12996564:C:CC", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001165962.2:c.1521dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_173717.2:c.1638dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_018127.7:c.1641dup"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_015808.1:g.26500dup"}, {"type": "HGVS, genomic, top level", "value": "NC_000017.11:g.12996565dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000017.10:g.12899882dup", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_018127.6:c.1641dupG"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001159434.1:p.His508fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_776065.1:p.His547fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_060597.4:p.His548fs"}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_001165962.2:c.1521dup"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_018127.7:c.1641dup"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_173717.2:c.1638dup"}]}, {"type": "ProteinChange1LetterCode", "value": "H508fs"}, {"type": "ProteinChange1LetterCode", "value": "H547fs"}, {"type": "ProteinChange1LetterCode", "value": "H548fs"}], "cytogenic_locations": ["17p12"], "sequence_locations": [{"assembly": "GRCh38", "chr": "17", "accession": "NC_000017.11", "start": 12996564, "stop": 12996565, "display_start": 12996564, "display_stop": 12996565, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 12996564, "reference_allele_vcf": "G", "alternate_allele_vcf": "GC"}, {"assembly": "GRCh37", "chr": "17", "accession": "NC_000017.10", "start": 12899881, "stop": 12899882, "display_start": 12899881, "display_stop": 12899882, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 12899881, "reference_allele_vcf": "G", "alternate_allele_vcf": "GC"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "elaC ribonuclease Z 2"}}], "symbols": [{"value": {"type": "Preferred", "value": "ELAC2"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "17", "accession": "NC_000017.11", "start": 12991612, "stop": 13018027, "display_start": 12991612, "display_stop": 13018027, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "17", "accession": "NC_000017.10", "start": 12894928, "stop": 12921380, "display_start": 12894928, "display_stop": 12921380, "strand": "-", "variant_length": 26453, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "60528"}, {"db": "OMIM", "id": "605367", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:14198"}]}], "xrefs": [{"db": "OMIM", "id": "605367.0003", "type": "Allelic variant"}, {"db": "dbSNP", "id": "387906327", "type": "rs"}], "id": 20096}], "names": [{"value": {"type": "Preferred", "value": "NM_018127.6(ELAC2):c.1641dup (p.His548Alafs)"}}, {"value": {"type": "Preferred", "value": "NM_018127.6(ELAC2):c.1641dup (p.His548Alafs)"}}], "xrefs": [{"db": "ClinGen", "id": "CA117234"}], "id": 5057}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Prostate cancer, hereditary, 2"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0013872"}]}], "symbols": [{"value": {"type": "Preferred", "value": "HPC2"}, "xrefs": [{"db": "OMIM", "id": "614731", "type": "MIM"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0013872"}, {"db": "MedGen", "id": "C3539120"}, {"db": "Orphanet", "id": "1331"}, {"db": "OMIM", "id": "614731", "type": "MIM"}]}], "id": 8721}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 62863}, "record_status": "current", "title": "NM_018127.6(ELAC2):c.1641dup (p.His548Alafs) AND Prostate cancer, hereditary, 2", "clinvar_assertions": [{"id": 25538, "submission_id": {"local_key": "605367.0003_PROSTATE CANCER, HEREDITARY, 2", "submitter": "OMIM", "title": "ELAC2, 1-BP, 1641G_PROSTATE CANCER, HEREDITARY, 2", "submitter_date": "2012-07-19"}, "clinvar_accession": {"acc": "SCV000025538", "version": 1, "type": "SCV", "date_updated": "2013-04-04", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2001-02-01"}], "external_ids": [{"db": "OMIM", "id": "605367.0003", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Tavtigian et al. (2001) demonstrated an insertion/frameshift, 1641insG, in the ELAC2 gene in a Utah family with 8 prostate cancer cases (HPC2; 614731) in 3 generations. Insertion of a nucleotide between residues 1641 and 1642 shifted the reading frame after leu547, leading to termination after the miscoding of 67 residues. The mutation segregated with disease in this family."}, "citations": [{"ids": [{"source": "PubMed", "value": "11175785"}]}], "xrefs": [{"db": "OMIM", "id": "614731", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "ELAC2, 1-BP, 1641G"}}], "attributes": [{"type": "NonHGVS", "value": "1-BP, 1641G"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "ELAC2"}}]}], "xrefs": [{"db": "OMIM", "id": "605367.0003", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "PROSTATE CANCER, HEREDITARY, 2"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000014834", "version": 26, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2012-09-13"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a sporadic case of Pallister-Hall syndrome (PHS; 146510), previously described by Ozerov et al. (1997), Turner et al. (2003) identified a 72-bp insertion of mtDNA into exon 14 of the GLI3 gene, creating a premature stop codon predicting a truncated protein product. The patient had a hypothalamic hamartoma demonstrated by cranial MRI without endocrine abnormalities or seizures. He had scars on his hands consistent with removal of a supernumerary ulnar digit, fusion of his metacarpals, and a bifid epiglottis. Turner et al. (2003) found heterozygosity for the insertion, which was not found in the parents. The authors performed analysis of a SNP, which indicated that the allele with the 72-bp insertion had a C at position 2993 of the GLI3 cDNA (wildtype, T), and that the mother was a T/T homozygote and the father a C/T heterozygote. Thus the mutated allele was of paternal origin. The insertion was found to be identical to a region partially overlapping 2 mitochondrial tRNA genes, MTTS2 (590085) and MTTL2 (590055)."}, "citations": [{"ids": [{"source": "PubMed", "value": "12545275"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "9148633"}], "type": "general"}]}]}, {"sample": {"origin": "not provided", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["curation"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000013823", "version": 2, "measures": [{"type": "insertion", "names": [{"value": {"type": "Preferred", "value": "NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314"}}], "attributes": [{"type": "HGVS, non-validated", "value": "NM_000168.5:c.2770_2771insNC_012920.1:g.12243..12314"}, {"type": "HGVS, previous", "value": "NM_000168.3:c.2770_2771ins72"}], "cytogenic_locations": ["7p14.1"], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 41966302, "stop": 41966303, "display_start": 41966302, "display_stop": 41966303, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "start": 42005900, "stop": 42005901, "display_start": 42005900, "display_stop": 42005901, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "GLI family zinc finger 3"}}], "symbols": [{"value": {"type": "Preferred", "value": "GLI3"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 41960949, "stop": 42264268, "display_start": 41960949, "display_stop": 42264268, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "start": 42000546, "stop": 42276617, "display_start": 42000546, "display_stop": 42276617, "strand": "-", "variant_length": 276072, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "2737"}, {"db": "OMIM", "id": "165240", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:4319"}]}], "xrefs": [{"db": "dbVar", "id": "nssv3761571"}, {"db": "dbVar", "id": "nsv1067831"}, {"db": "OMIM", "id": "165240.0011", "type": "Allelic variant"}], "comments": [{"text": "72-nt insertion of mtDNA into exon 15 of GLI3 (NG_008434.1)", "type": "public", "datasource": "NCBI curation"}, {"text": "Insertion of 72-nt mitochondrial sequence for tRNA Ser and tRNA Leu (see PMID 15739154).", "type": "public", "datasource": "NCBI curation"}], "id": 28862}], "names": [{"value": {"type": "Preferred", "value": "NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314"}}], "id": 13823}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Pallister-Hall syndrome"}, "xrefs": [{"db": "Genetic Alliance", "id": "Pallister-Hall+syndrome/5543"}, {"db": "MONDO", "id": "MONDO:0007804"}, {"db": "SNOMED CT", "id": "56677004"}]}, {"value": {"type": "Alternate", "value": "Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly"}}], "symbols": [{"value": {"type": "Preferred", "value": "PHS"}, "xrefs": [{"db": "OMIM", "id": "146510", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "PHS1"}}], "attributes": [{"value": {"type": "public definition", "value": "Pallister-Hall syndrome (referred to as PHS in this entry) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1465"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "7305"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301638"}, {"source": "BookShelf", "value": "NBK1465"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "20301753"}, {"source": "BookShelf", "value": "NBK5192"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0007804"}, {"db": "MedGen", "id": "C0265220"}, {"db": "Orphanet", "id": "672"}, {"db": "OMIM", "id": "146510", "type": "MIM"}]}], "id": 3814}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 72337}, "record_status": "current", "title": "NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314 AND Pallister-Hall syndrome", "clinvar_assertions": [{"id": 35089, "submission_id": {"local_key": "165240.0011_PALLISTER-HALL SYNDROME", "submitter": "OMIM", "title": "GLI3, 72-BP INS mtDNA, EX14_PALLISTER-HALL SYNDROME", "submitter_date": "2015-05-21"}, "clinvar_accession": {"acc": "SCV000035089", "version": 4, "type": "SCV", "date_updated": "2015-05-23", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2003-03-01"}], "external_ids": [{"db": "OMIM", "id": "165240.0011", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a sporadic case of Pallister-Hall syndrome (PHS; 146510), previously described by Ozerov et al. (1997), Turner et al. (2003) identified a 72-bp insertion of mtDNA into exon 14 of the GLI3 gene, creating a premature stop codon predicting a truncated protein product. The patient had a hypothalamic hamartoma demonstrated by cranial MRI without endocrine abnormalities or seizures. He had scars on his hands consistent with removal of a supernumerary ulnar digit, fusion of his metacarpals, and a bifid epiglottis. Turner et al. (2003) found heterozygosity for the insertion, which was not found in the parents. The authors performed analysis of a SNP, which indicated that the allele with the 72-bp insertion had a C at position 2993 of the GLI3 cDNA (wildtype, T), and that the mother was a T/T homozygote and the father a C/T heterozygote. Thus the mutated allele was of paternal origin. The insertion was found to be identical to a region partially overlapping 2 mitochondrial tRNA genes, MTTS2 (590085) and MTTL2 (590055)."}, "citations": [{"ids": [{"source": "PubMed", "value": "9148633"}]}, {"ids": [{"source": "PubMed", "value": "12545275"}]}], "xrefs": [{"db": "OMIM", "id": "146510", "type": "MIM"}, {"db": "OMIM", "id": "590085", "type": "MIM"}, {"db": "OMIM", "id": "590055", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "GLI3, 72-BP INS mtDNA, EX14"}}], "attributes": [{"type": "NonHGVS", "value": "72-BP INS mtDNA, EX14"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "GLI3"}}]}], "xrefs": [{"db": "OMIM", "id": "165240.0011", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "PALLISTER-HALL SYNDROME"}}]}]}}, {"id": 91018, "submission_id": {"local_key": "NM_000168.3:c.2770_2771ins72_NBK1465", "submitter": "GeneReviews", "title": "NM_000168.3:c.2770_2771ins72 and Pallister-Hall Syndrome", "submitter_date": "2013-03-26"}, "clinvar_accession": {"acc": "SCV000054490", "version": 2, "type": "SCV", "date_updated": "2013-05-03", "date_created": "2013-04-04", "org_id": "500062", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["other"], "comments": [{"text": "Converted during submission to Pathogenic."}], "date_last_evaluated": "2012-09-13"}], "external_ids": [{"db": "GeneReviews", "id": "NBK1465"}], "observed_in": [{"sample": {"origin": "not provided", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["curation"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_000168.3:c.2770_2771ins72"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "Pallister-Hall Syndrome"}}], "xrefs": [{"db": "GeneReviews", "id": "NBK1465"}, {"db": "OMIM", "id": "146510", "type": "MIM"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV001030013", "version": 1, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2020-03-29"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "association"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "de novo", "ethnicity": "Punjabis", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["case-control"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000830042", "version": 1, "measures": [{"type": "insertion", "names": [{"value": {"type": "Preferred", "value": "NM_018100.4(EFHC1):c.723+18_723+19insG"}}], "canonical_spdi": "NC_000006.12:52452855::G", "attributes": [{"type": "FunctionalConsequence", "value": "functional variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001536"}]}, {"type": "HGVS, coding, RefSeq", "value": "NM_001172420.2:c.666+18_666+19insG"}, {"type": "HGVS, coding, RefSeq", "value": "NM_018100.4:c.723+18_723+19insG"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_016760.1:g.37660_37661insG"}, {"type": "HGVS, genomic, top level", "value": "NC_000006.12:g.52452855_52452856insG", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000006.11:g.52317653_52317654insG", "integer_value": 37}, {"type": "HGVS, non-coding", "value": "NR_033327.2:n.810_811insG"}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001172420.2:c.666+18_666+19insG"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_018100.4:c.723+18_723+19insG"}]}, {"type": "MolecularConsequence", "value": "non-coding transcript variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001619"}, {"db": "RefSeq", "id": "NR_033327.2:n.810_811insG"}]}], "cytogenic_locations": ["6p12.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "start": 52452855, "stop": 52452856, "display_start": 52452855, "display_stop": 52452856, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 52452855, "reference_allele_vcf": "C", "alternate_allele_vcf": "CG"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "start": 52317653, "stop": 52317654, "display_start": 52317653, "display_stop": 52317654, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 52317653, "reference_allele_vcf": "C", "alternate_allele_vcf": "CG"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "EF-hand domain containing 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "EFHC1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "start": 52420342, "stop": 52497198, "display_start": 52420342, "display_stop": 52497198, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "start": 52284993, "stop": 52360582, "display_start": 52284993, "display_stop": 52360582, "strand": "+", "variant_length": 75590, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "114327"}, {"db": "OMIM", "id": "608815", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:16406"}]}], "xrefs": [{"db": "dbSNP", "id": "1581829739", "type": "rs"}], "id": 818378}], "names": [{"value": {"type": "Preferred", "value": "NM_018100.4(EFHC1):c.723+18_723+19insG"}}], "id": 830042}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Juvenile myoclonic epilepsy"}, "xrefs": [{"db": "Genetic Alliance", "id": "Juvenile+myoclonic+epilepsy/3937"}, {"db": "MONDO", "id": "MONDO:0009696"}]}, {"value": {"type": "Alternate", "value": "Petit mal, impulsive"}}, {"value": {"type": "Alternate", "value": "Janz syndrome"}}], "symbols": [{"value": {"type": "Preferred", "value": "EJM"}, "xrefs": [{"db": "OMIM", "id": "254770", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "JME"}, "xrefs": [{"db": "OMIM", "id": "254770", "type": "MIM"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20298421"}], "type": "practice guideline", "abbrev": "EFNS, 2010"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0009696"}, {"db": "MedGen", "id": "C0270853"}, {"db": "Orphanet", "id": "307"}, {"db": "OMIM", "id": "PS254770", "type": "Phenotypic series"}]}], "id": 6479}, "date_created": "2020-03-29", "date_last_updated": "2022-04-23", "id": 2353227}, "record_status": "current", "title": "NM_018100.4(EFHC1):c.723+18_723+19insG AND Juvenile myoclonic epilepsy", "clinvar_assertions": [{"id": 2351034, "submission_id": {"local_key": "SUB7151151", "submitter": "Cell and Molecular Biology Laboratory, University of the Punjab Lahore", "title": "SUB7151151", "submitted_assembly": "GRCh38", "submitter_date": "2020-03-26"}, "clinvar_accession": {"acc": "SCV001190365", "version": 1, "type": "SCV", "date_updated": "2020-03-29", "date_created": "2020-03-29", "org_id": "507500", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["association"]}], "observed_in": [{"sample": {"origin": "de novo", "ethnicity": "Punjabis", "geographic_origin": "Pakistan", "species": {"value": "human", "taxonomy_id": 9606}, "age": [{"age_unit": "years", "value": 10, "type": "minimum"}, {"age_unit": "years", "value": 19, "type": "maximum"}], "affected_status": "yes", "gender": "female", "indication": {"traits": [{"names": [{"value": {"type": "Preferred", "value": "myoclonic jerks"}}]}], "type": "Indication"}}, "methods": ["case-control"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}], "comments": [{"text": "Insertion of 1bp nucleotide was seen in chromatogram after Sanger's sequencing."}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NC_000006.12:g.52452855_52452856insG"}, {"type": "FunctionalConsequence", "value": "functional variant"}], "measure_relationship": [{"type": "variant in gene", "names": [{"value": {"type": "Preferred", "value": "EF-hand domain containing 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "EFHC1"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "254770"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV001849900", "version": 1, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2022-03-28"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "likely pathogenic"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}, {"attribute": {"type": "NumFamiliesWithVariant", "integer_value": 1}}, {"attribute": {"type": "CompoundHeterozygote", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV001344904", "version": 1, "measures": [{"type": "complex", "attributes": [{"type": "FunctionalConsequence", "value": "effect on RNA splicing function", "xrefs": [{"db": "Variation Ontology", "id": "0397"}]}], "cytogenic_locations": ["3p22.3"], "sequence_locations": [{"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "start": 33100045, "stop": 33100046, "display_start": 33100045, "display_stop": 33100046, "variant_length": 2, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "galactosidase beta 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "GLB1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "3", "accession": "NC_000003.12", "start": 32961108, "stop": 33097146, "display_start": 32961108, "display_stop": 33097146, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "start": 33038099, "stop": 33138693, "display_start": 33038099, "display_stop": 33138693, "strand": "-", "variant_length": 100595, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "2720"}, {"db": "OMIM", "id": "611458", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:4298"}]}], "id": 1336676}], "names": [{"value": {"type": "Preferred", "value": "Single allele"}}], "id": 1344904}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Mucopolysaccharidosis, MPS-IV-B"}, "xrefs": [{"db": "Genetic Alliance", "id": "Morquio+syndrome+B/4877"}, {"db": "SNOMED CT", "id": "238044004"}]}, {"value": {"type": "Alternate", "value": "MPS IVB"}, "xrefs": [{"db": "OMIM", "id": "253010", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Morquio syndrome B"}}, {"value": {"type": "Alternate", "value": "MPS 4B"}}, {"value": {"type": "Alternate", "value": "Mucopolysaccharidosis type IV B"}}, {"value": {"type": "Alternate", "value": "Mucopolysaccharidosis type 4B"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0009660"}]}, {"value": {"type": "Alternate", "value": "Mucopolysaccharidosis type IVB (Morquio)"}}, {"value": {"type": "Alternate", "value": "Mucopolysaccharidosis Type IVB"}}], "symbols": [{"value": {"type": "Preferred", "value": "MPS4B"}, "xrefs": [{"db": "OMIM", "id": "253010", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop."}, "xrefs": [{"db": "GeneReviews", "id": "NBK164500"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "3786"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "24156116"}, {"source": "BookShelf", "value": "NBK164500"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0009660"}, {"db": "MedGen", "id": "C0086652"}, {"db": "Orphanet", "id": "582"}, {"db": "OMIM", "id": "253010", "type": "MIM"}]}], "id": 247}, "date_created": "2022-03-28", "date_last_updated": "2022-04-23", "id": 4124959}, "record_status": "current", "title": "Single allele AND Mucopolysaccharidosis, MPS-IV-B", "clinvar_assertions": [{"id": 4124547, "submission_id": {"local_key": "123", "submitter": "Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics", "submitted_assembly": "GRCh37", "submitter_date": "2022-03-20"}, "clinvar_accession": {"acc": "SCV002107169", "version": 1, "type": "SCV", "date_updated": "2022-03-28", "date_created": "2022-03-28", "org_id": "507039", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["likely pathogenic"], "comments": [{"text": "The GLB1 mRNA analysis demonstrated the inclusion of the 18 b.p. fragment of the intron 5 (NC_000003.11:g.33100082_33100099) r.552_553insCATTTCTACCATGGGAAG. Detected in-trans with the pathogenic c.808T>G (p.Tyr270Asp) variant."}]}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "ACMG Guidelines, 2015"}, "citations": [{"ids": [{"source": "PubMed", "value": "25741868"}]}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "family_data": {"num_families_with_variant": 1}}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}, {"attribute": {"type": "CompoundHeterozygote", "integer_value": 1}}]}], "measures": {"type": "Variant", "measures": [{"type": "complex", "attributes": [{"type": "FunctionalConsequence", "value": "effect on RNA splicing function", "xrefs": [{"db": "Variation Ontology", "id": "0397", "url": "http://www.variationontology.org/cgi-bin/amivario/term-details.cgi?term=VariO:0397"}]}], "sequence_locations": [{"assembly": "GRCh37", "chr": "3", "start": 33100045, "stop": 33100046, "variant_length": 2}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "GLB1"}}]}]}], "comments": [{"text": "Insertion of the processed pseudogene NPM1. Several events were detected in the inegration site: 1 - 16 b.p.target site duplication NC_000003.11:g.33100046_33100061dup. 2 - 1301 b.p. insertion of NPM1 cDNA (corresponding to NM_002520.7:c.-97_*319inv), flanked by the single guanine at the 5\u2019 end, acquired during capping, and polyA tail at the 3\u2019 end."}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "253010", "type": "MIM"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000003352", "version": 5, "type": "RCV", "date_updated": "2022-06-30", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2009-11-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 4"}}, {"attribute": {"type": "Description", "value": "Kobayashi et al. (1998) found that 87% of mutant alleles causing the autosomal recessive disorder Fukuyama congenital muscular dystrophy (MDDGA4; 253800) carried an insertion of a 3,062-bp transposon, situated in the 3-prime UTR of the FKTN gene."}, "citations": [{"ids": [{"source": "PubMed", "value": "9690476"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Most Japanese patients with the retrotransposal insertion in the FKTN gene share a common founder haplotype. By applying 2 methods for the study of linkage disequilibrium between flanking polymorphic markers and the disease locus, and of its decay over time, Colombo et al. (2000) calculated the age of the insertion mutation to be approximately 102 generations (95% CI: 86-117 g), or slightly less. The estimated age dates the most recent common ancestor of the mutation-bearing chromosomes back to the time (or a few centuries before) the Yayoi people began migrating to Japan from the Korean peninsula. FCMD was the first human disease known to be caused primarily by an ancient retrotransposal integration."}, "citations": [{"ids": [{"source": "PubMed", "value": "11153909"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Kato et al. (2004) stated that 9 nonfounder mutations had been identified in Japanese FCMD patients. Severe phenotype was significantly more frequent in patients who were compound heterozygotes for a point mutation and the 3-kb founder insertion in the FKTN gene than in homozygotes for the founder mutation. The authors described a PCR-based diagnostic method for rapid detection of the insertion mutation. Using this method, they screened 18 FCMD patients and found 16 homozygotes and 2 heterozygotes for the insertion. In the general Japanese population, they found that 6 of 676 persons were heterozygous carriers. Furthermore, they found 3 homozygotes for the FCMD founder mutation among 97 patients who had been said to have probable Duchenne muscular dystrophy (310200) or Becker muscular dystrophy (300376) (DMD/BMD) without any mutation in the DMD gene (300377). On the other hand, there were no FCMD homozygotes but 4 heterozygous carriers among 335 patients with DMD mutations."}, "citations": [{"ids": [{"source": "PubMed", "value": "15103718"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "By sequence analysis, Watanabe et al. (2005) characterized the insertion mutation and found that it was enclosed by target-site duplications at both ends. They noted that the sequence motif was characteristic of a class of retroposon referred to as SINE-VNTR-Alu (SVA)."}, "citations": [{"ids": [{"source": "PubMed", "value": "16222679"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Watanabe et al. (2005) established a rapid PCR-based diagnostic method using 3 primers simultaneously in order to detect the 3,062-bp retrotransposal insertion. Fifteen founder chromosomes were detected among 2,814 Japanese individuals. Heterozygous carriers were identified in various regions throughout Japan, with a carrier frequency of approximately 1 in 188. The insertion mutation was found in 1 in 935 Korean individuals but not among 203 Mongolians and 766 mainland Chinese, suggesting that FCMD carriers are rare outside of Japan."}, "citations": [{"ids": [{"source": "PubMed", "value": "16222679"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Xiong et al. (2009) reported a Chinese boy with FCMD who was compound heterozygous for 2 mutations in the fukutin gene: the common 3-kb retroposon insertion and R47X (607440.0002). Although the boy's parents were born in Henan and Shanxi Provinces and had no known Japanese ancestry, haplotype analysis showed that both mutant alleles were on Japanese-derived haplotypes."}, "citations": [{"ids": [{"source": "PubMed", "value": "19842201"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Cardiomyopathy, Dilated, 1X"}}, {"attribute": {"type": "Description", "value": "In 6 Japanese patients from 4 families with dilated cardiomyopathy and mild or no limb-girdle involvement (CMD1X; 611615), Murakami et al. (2006) identified compound heterozygosity in all for the 3-kb retroposon insertion and another missense mutation: Q358P (607440.0010) or R179T (607440.0011), respectively."}, "citations": [{"ids": [{"source": "PubMed", "value": "17036286"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000003199", "version": 3, "measures": [{"type": "insertion", "names": [{"value": {"type": "Preferred", "value": "NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]"}}, {"value": {"type": "Alternate", "value": "NM_006731.2:c.*4392_*4393insSVA"}}], "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_434t2:c.*4392_*4393ins[AB185332.1]"}, {"type": "HGVS, coding, RefSeq", "value": "NM_006731.2:c.*4392_*4393ins[AB185332.1]"}, {"type": "HGVS, protein"}, {"type": "nucleotide change", "value": "3-KB INS, SVA RETROTRANSPOSON INS"}], "cytogenic_locations": ["9q31"], "measure_relationship": [{"type": "asserted, but not computed", "names": [{"value": {"type": "Preferred", "value": "fukutin"}}], "symbols": [{"value": {"type": "Preferred", "value": "FKTN"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "9", "accession": "NC_000009.12", "start": 105558130, "stop": 105641118, "display_start": 105558130, "display_stop": 105641118, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "9", "accession": "NC_000009.11", "start": 108320410, "stop": 108403398, "display_start": 108320410, "display_stop": 108403398, "strand": "+", "variant_length": 82989, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "2218"}, {"db": "OMIM", "id": "607440", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:3622"}]}], "xrefs": [{"db": "Genetic Testing Registry (GTR)", "id": "GTR000325670"}, {"db": "OMIM", "id": "607440.0001", "type": "Allelic variant"}], "comments": [{"text": "Insertion of retrotransposal insertion sequence into 3'-UTR of FKTN.", "type": "public", "datasource": "NCBI curation"}], "id": 18238}], "names": [{"value": {"type": "Preferred", "value": "NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]"}}, {"value": {"type": "Preferred", "value": "NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]"}}], "id": 3199}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Dilated cardiomyopathy 1X"}, "xrefs": [{"db": "Genetic Alliance", "id": "Dilated+cardiomyopathy+1X/8262"}, {"db": "MONDO", "id": "MONDO:0012704"}]}, {"value": {"type": "Alternate", "value": "CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS"}, "xrefs": [{"db": "OMIM", "id": "611615", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "FKTN-Related Dilated Cardiomyopathy"}}], "symbols": [{"value": {"type": "Preferred", "value": "CMD1X"}, "xrefs": [{"db": "OMIM", "id": "611615", "type": "MIM"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301486"}, {"source": "BookShelf", "value": "NBK1309"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0012704"}, {"db": "MedGen", "id": "C1969024"}, {"db": "Orphanet", "id": "154"}, {"db": "OMIM", "id": "611615", "type": "MIM"}]}], "id": 821}, "date_created": "2013-04-04", "date_last_updated": "2022-06-30", "id": 60855}, "record_status": "current", "title": "NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1] AND Dilated cardiomyopathy 1X", "clinvar_assertions": [{"id": 23510, "submission_id": {"local_key": "607440.0001_CARDIOMYOPATHY, DILATED, 1X", "submitter": "OMIM", "title": "FKTN, 3-KB INS, SVA RETROTRANSPOSON INS_CARDIOMYOPATHY, DILATED, 1X", "submitter_date": "2018-11-19"}, "clinvar_accession": {"acc": "SCV000023510", "version": 4, "type": "SCV", "date_updated": "2018-12-15", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to included disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2009-11-01"}], "external_ids": [{"db": "OMIM", "id": "607440.0001", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 4"}}, {"attribute": {"type": "Description", "value": "Kobayashi et al. (1998) found that 87% of mutant alleles causing the autosomal recessive disorder Fukuyama congenital muscular dystrophy (MDDGA4; 253800) carried an insertion of a 3,062-bp transposon, situated in the 3-prime UTR of the FKTN gene."}, "citations": [{"ids": [{"source": "PubMed", "value": "9690476"}]}], "xrefs": [{"db": "OMIM", "id": "253800", "type": "MIM"}]}, {"attribute": {"type": "Description", "value": "Most Japanese patients with the retrotransposal insertion in the FKTN gene share a common founder haplotype. By applying 2 methods for the study of linkage disequilibrium between flanking polymorphic markers and the disease locus, and of its decay over time, Colombo et al. (2000) calculated the age of the insertion mutation to be approximately 102 generations (95% CI: 86-117 g), or slightly less. The estimated age dates the most recent common ancestor of the mutation-bearing chromosomes back to the time (or a few centuries before) the Yayoi people began migrating to Japan from the Korean peninsula. FCMD was the first human disease known to be caused primarily by an ancient retrotransposal integration."}, "citations": [{"ids": [{"source": "PubMed", "value": "11153909"}]}]}, {"attribute": {"type": "Description", "value": "Kato et al. (2004) stated that 9 nonfounder mutations had been identified in Japanese FCMD patients. Severe phenotype was significantly more frequent in patients who were compound heterozygotes for a point mutation and the 3-kb founder insertion in the FKTN gene than in homozygotes for the founder mutation. The authors described a PCR-based diagnostic method for rapid detection of the insertion mutation. Using this method, they screened 18 FCMD patients and found 16 homozygotes and 2 heterozygotes for the insertion. In the general Japanese population, they found that 6 of 676 persons were heterozygous carriers. Furthermore, they found 3 homozygotes for the FCMD founder mutation among 97 patients who had been said to have probable Duchenne muscular dystrophy (310200) or Becker muscular dystrophy (300376) (DMD/BMD) without any mutation in the DMD gene (300377). On the other hand, there were no FCMD homozygotes but 4 heterozygous carriers among 335 patients with DMD mutations."}, "citations": [{"ids": [{"source": "PubMed", "value": "15103718"}]}], "xrefs": [{"db": "OMIM", "id": "310200", "type": "MIM"}, {"db": "OMIM", "id": "300376", "type": "MIM"}, {"db": "OMIM", "id": "300377", "type": "MIM"}]}, {"attribute": {"type": "Description", "value": "By sequence analysis, Watanabe et al. (2005) characterized the insertion mutation and found that it was enclosed by target-site duplications at both ends. They noted that the sequence motif was characteristic of a class of retroposon referred to as SINE-VNTR-Alu (SVA)."}, "citations": [{"ids": [{"source": "PubMed", "value": "16222679"}]}]}, {"attribute": {"type": "Description", "value": "Watanabe et al. (2005) established a rapid PCR-based diagnostic method using 3 primers simultaneously in order to detect the 3,062-bp retrotransposal insertion. Fifteen founder chromosomes were detected among 2,814 Japanese individuals. Heterozygous carriers were identified in various regions throughout Japan, with a carrier frequency of approximately 1 in 188. The insertion mutation was found in 1 in 935 Korean individuals but not among 203 Mongolians and 766 mainland Chinese, suggesting that FCMD carriers are rare outside of Japan."}, "citations": [{"ids": [{"source": "PubMed", "value": "16222679"}]}]}, {"attribute": {"type": "Description", "value": "Xiong et al. (2009) reported a Chinese boy with FCMD who was compound heterozygous for 2 mutations in the fukutin gene: the common 3-kb retroposon insertion and R47X (607440.0002). Although the boy's parents were born in Henan and Shanxi Provinces and had no known Japanese ancestry, haplotype analysis showed that both mutant alleles were on Japanese-derived haplotypes."}, "citations": [{"ids": [{"source": "PubMed", "value": "19842201"}]}]}, {"attribute": {"type": "Description", "value": "Cardiomyopathy, Dilated, 1X"}}, {"attribute": {"type": "Description", "value": "In 6 Japanese patients from 4 families with dilated cardiomyopathy and mild or no limb-girdle involvement (CMD1X; 611615), Murakami et al. (2006) identified compound heterozygosity in all for the 3-kb retroposon insertion and another missense mutation: Q358P (607440.0010) or R179T (607440.0011), respectively."}, "citations": [{"ids": [{"source": "PubMed", "value": "17036286"}]}], "xrefs": [{"db": "OMIM", "id": "611615", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "FKTN, 3-KB INS, SVA RETROTRANSPOSON INS"}}], "attributes": [{"type": "NonHGVS", "value": "3-KB INS, SVA RETROTRANSPOSON INS"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "FKTN"}}]}], "xrefs": [{"db": "OMIM", "id": "607440.0001", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "included", "value": "CARDIOMYOPATHY, DILATED, 1X"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000003351", "version": 6, "type": "RCV", "date_updated": "2022-06-30", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2009-11-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 4"}}, {"attribute": {"type": "Description", "value": "Cardiomyopathy, Dilated, 1X"}}, {"attribute": {"type": "Description", "value": "In 6 Japanese patients from 4 families with dilated cardiomyopathy and mild or no limb-girdle involvement (CMD1X; 611615), Murakami et al. (2006) identified compound heterozygosity in all for the 3-kb retroposon insertion and another missense mutation: Q358P (607440.0010) or R179T (607440.0011), respectively."}, "citations": [{"ids": [{"source": "PubMed", "value": "17036286"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Kobayashi et al. (1998) found that 87% of mutant alleles causing the autosomal recessive disorder Fukuyama congenital muscular dystrophy (MDDGA4; 253800) carried an insertion of a 3,062-bp transposon, situated in the 3-prime UTR of the FKTN gene."}, "citations": [{"ids": [{"source": "PubMed", "value": "9690476"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Most Japanese patients with the retrotransposal insertion in the FKTN gene share a common founder haplotype. By applying 2 methods for the study of linkage disequilibrium between flanking polymorphic markers and the disease locus, and of its decay over time, Colombo et al. (2000) calculated the age of the insertion mutation to be approximately 102 generations (95% CI: 86-117 g), or slightly less. The estimated age dates the most recent common ancestor of the mutation-bearing chromosomes back to the time (or a few centuries before) the Yayoi people began migrating to Japan from the Korean peninsula. FCMD was the first human disease known to be caused primarily by an ancient retrotransposal integration."}, "citations": [{"ids": [{"source": "PubMed", "value": "11153909"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Kato et al. (2004) stated that 9 nonfounder mutations had been identified in Japanese FCMD patients. Severe phenotype was significantly more frequent in patients who were compound heterozygotes for a point mutation and the 3-kb founder insertion in the FKTN gene than in homozygotes for the founder mutation. The authors described a PCR-based diagnostic method for rapid detection of the insertion mutation. Using this method, they screened 18 FCMD patients and found 16 homozygotes and 2 heterozygotes for the insertion. In the general Japanese population, they found that 6 of 676 persons were heterozygous carriers. Furthermore, they found 3 homozygotes for the FCMD founder mutation among 97 patients who had been said to have probable Duchenne muscular dystrophy (310200) or Becker muscular dystrophy (300376) (DMD/BMD) without any mutation in the DMD gene (300377). On the other hand, there were no FCMD homozygotes but 4 heterozygous carriers among 335 patients with DMD mutations."}, "citations": [{"ids": [{"source": "PubMed", "value": "15103718"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "By sequence analysis, Watanabe et al. (2005) characterized the insertion mutation and found that it was enclosed by target-site duplications at both ends. They noted that the sequence motif was characteristic of a class of retroposon referred to as SINE-VNTR-Alu (SVA)."}, "citations": [{"ids": [{"source": "PubMed", "value": "16222679"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Watanabe et al. (2005) established a rapid PCR-based diagnostic method using 3 primers simultaneously in order to detect the 3,062-bp retrotransposal insertion. Fifteen founder chromosomes were detected among 2,814 Japanese individuals. Heterozygous carriers were identified in various regions throughout Japan, with a carrier frequency of approximately 1 in 188. The insertion mutation was found in 1 in 935 Korean individuals but not among 203 Mongolians and 766 mainland Chinese, suggesting that FCMD carriers are rare outside of Japan."}, "citations": [{"ids": [{"source": "PubMed", "value": "16222679"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Xiong et al. (2009) reported a Chinese boy with FCMD who was compound heterozygous for 2 mutations in the fukutin gene: the common 3-kb retroposon insertion and R47X (607440.0002). Although the boy's parents were born in Henan and Shanxi Provinces and had no known Japanese ancestry, haplotype analysis showed that both mutant alleles were on Japanese-derived haplotypes."}, "citations": [{"ids": [{"source": "PubMed", "value": "19842201"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000003199", "version": 3, "measures": [{"type": "insertion", "names": [{"value": {"type": "Preferred", "value": "NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]"}}, {"value": {"type": "Alternate", "value": "NM_006731.2:c.*4392_*4393insSVA"}}], "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_434t2:c.*4392_*4393ins[AB185332.1]"}, {"type": "HGVS, coding, RefSeq", "value": "NM_006731.2:c.*4392_*4393ins[AB185332.1]"}, {"type": "HGVS, protein"}, {"type": "nucleotide change", "value": "3-KB INS, SVA RETROTRANSPOSON INS"}], "cytogenic_locations": ["9q31"], "measure_relationship": [{"type": "asserted, but not computed", "names": [{"value": {"type": "Preferred", "value": "fukutin"}}], "symbols": [{"value": {"type": "Preferred", "value": "FKTN"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "9", "accession": "NC_000009.12", "start": 105558130, "stop": 105641118, "display_start": 105558130, "display_stop": 105641118, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "9", "accession": "NC_000009.11", "start": 108320410, "stop": 108403398, "display_start": 108320410, "display_stop": 108403398, "strand": "+", "variant_length": 82989, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "2218"}, {"db": "OMIM", "id": "607440", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:3622"}]}], "xrefs": [{"db": "Genetic Testing Registry (GTR)", "id": "GTR000325670"}, {"db": "OMIM", "id": "607440.0001", "type": "Allelic variant"}], "comments": [{"text": "Insertion of retrotransposal insertion sequence into 3'-UTR of FKTN.", "type": "public", "datasource": "NCBI curation"}], "id": 18238}], "names": [{"value": {"type": "Preferred", "value": "NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]"}}, {"value": {"type": "Preferred", "value": "NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]"}}], "id": 3199}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0009678"}]}, {"value": {"type": "Alternate", "value": "Fukuyama type muscular dystrophy"}}, {"value": {"type": "Alternate", "value": "Muscular dystrophy, congenital progressive, with mental retardation"}}, {"value": {"type": "Alternate", "value": "Muscular dystrophy, congenital, with central nervous system involvement"}}, {"value": {"type": "Alternate", "value": "Cerebromuscular dystrophy, Fukuyama type"}}, {"value": {"type": "Alternate", "value": "Fukuyama congenital muscular dystrophy"}, "xrefs": [{"db": "Genetic Alliance", "id": "Fukuyama+Type+Muscular+Dystrophy/2962"}, {"db": "SNOMED CT", "id": "111502003"}]}, {"value": {"type": "Alternate", "value": "WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED"}, "xrefs": [{"db": "OMIM", "id": "253800", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4"}}, {"value": {"type": "Alternate", "value": "Walker-Warburg Syndrome, Fktn-Related"}}], "symbols": [{"value": {"type": "Alternate", "value": "FCMD"}, "xrefs": [{"db": "OMIM", "id": "253800", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "MDDGA4"}, "xrefs": [{"db": "OMIM", "id": "253800", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia. Mild, typical, and severe phenotypes are recognized. Onset typically occurs in early infancy with poor suck, weak cry, and floppiness. Affected individuals have contractures of the hips, knees, and interphalangeal joints. Later features include myopathic facial appearance, pseudohypertrophy of the calves and forearms, motor and speech delays, intellectual disability, seizures, ophthalmologic abnormalities including visual impairment and retinal dysplasia, and progressive cardiac involvement after age ten years. Swallowing disturbance occurs in individuals with severe FCMD and in individuals older than age ten years, leading to recurrent aspiration pneumonia and death."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1206"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301385"}, {"source": "BookShelf", "value": "NBK1206"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "21078917"}], "type": "practice guideline", "abbrev": "Int'l SCC for CMD, 2010"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0009678"}, {"db": "MedGen", "id": "C0410174"}, {"db": "Orphanet", "id": "588"}, {"db": "Orphanet", "id": "899"}, {"db": "OMIM", "id": "253800", "type": "MIM"}]}], "id": 6475}, "date_created": "2013-04-04", "date_last_updated": "2022-06-30", "id": 60854}, "record_status": "current", "title": "NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1] AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4", "clinvar_assertions": [{"id": 23509, "submission_id": {"local_key": "607440.0001_MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4", "submitter": "OMIM", "title": "FKTN, 3-KB INS, SVA RETROTRANSPOSON INS_MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4", "submitter_date": "2018-11-19"}, "clinvar_accession": {"acc": "SCV000023509", "version": 4, "type": "SCV", "date_updated": "2018-12-15", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2009-11-01"}], "external_ids": [{"db": "OMIM", "id": "607440.0001", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 4"}}, {"attribute": {"type": "Description", "value": "Kobayashi et al. (1998) found that 87% of mutant alleles causing the autosomal recessive disorder Fukuyama congenital muscular dystrophy (MDDGA4; 253800) carried an insertion of a 3,062-bp transposon, situated in the 3-prime UTR of the FKTN gene."}, "citations": [{"ids": [{"source": "PubMed", "value": "9690476"}]}], "xrefs": [{"db": "OMIM", "id": "253800", "type": "MIM"}]}, {"attribute": {"type": "Description", "value": "Most Japanese patients with the retrotransposal insertion in the FKTN gene share a common founder haplotype. By applying 2 methods for the study of linkage disequilibrium between flanking polymorphic markers and the disease locus, and of its decay over time, Colombo et al. (2000) calculated the age of the insertion mutation to be approximately 102 generations (95% CI: 86-117 g), or slightly less. The estimated age dates the most recent common ancestor of the mutation-bearing chromosomes back to the time (or a few centuries before) the Yayoi people began migrating to Japan from the Korean peninsula. FCMD was the first human disease known to be caused primarily by an ancient retrotransposal integration."}, "citations": [{"ids": [{"source": "PubMed", "value": "11153909"}]}]}, {"attribute": {"type": "Description", "value": "Kato et al. (2004) stated that 9 nonfounder mutations had been identified in Japanese FCMD patients. Severe phenotype was significantly more frequent in patients who were compound heterozygotes for a point mutation and the 3-kb founder insertion in the FKTN gene than in homozygotes for the founder mutation. The authors described a PCR-based diagnostic method for rapid detection of the insertion mutation. Using this method, they screened 18 FCMD patients and found 16 homozygotes and 2 heterozygotes for the insertion. In the general Japanese population, they found that 6 of 676 persons were heterozygous carriers. Furthermore, they found 3 homozygotes for the FCMD founder mutation among 97 patients who had been said to have probable Duchenne muscular dystrophy (310200) or Becker muscular dystrophy (300376) (DMD/BMD) without any mutation in the DMD gene (300377). On the other hand, there were no FCMD homozygotes but 4 heterozygous carriers among 335 patients with DMD mutations."}, "citations": [{"ids": [{"source": "PubMed", "value": "15103718"}]}], "xrefs": [{"db": "OMIM", "id": "310200", "type": "MIM"}, {"db": "OMIM", "id": "300376", "type": "MIM"}, {"db": "OMIM", "id": "300377", "type": "MIM"}]}, {"attribute": {"type": "Description", "value": "By sequence analysis, Watanabe et al. (2005) characterized the insertion mutation and found that it was enclosed by target-site duplications at both ends. They noted that the sequence motif was characteristic of a class of retroposon referred to as SINE-VNTR-Alu (SVA)."}, "citations": [{"ids": [{"source": "PubMed", "value": "16222679"}]}]}, {"attribute": {"type": "Description", "value": "Watanabe et al. (2005) established a rapid PCR-based diagnostic method using 3 primers simultaneously in order to detect the 3,062-bp retrotransposal insertion. Fifteen founder chromosomes were detected among 2,814 Japanese individuals. Heterozygous carriers were identified in various regions throughout Japan, with a carrier frequency of approximately 1 in 188. The insertion mutation was found in 1 in 935 Korean individuals but not among 203 Mongolians and 766 mainland Chinese, suggesting that FCMD carriers are rare outside of Japan."}, "citations": [{"ids": [{"source": "PubMed", "value": "16222679"}]}]}, {"attribute": {"type": "Description", "value": "Xiong et al. (2009) reported a Chinese boy with FCMD who was compound heterozygous for 2 mutations in the fukutin gene: the common 3-kb retroposon insertion and R47X (607440.0002). Although the boy's parents were born in Henan and Shanxi Provinces and had no known Japanese ancestry, haplotype analysis showed that both mutant alleles were on Japanese-derived haplotypes."}, "citations": [{"ids": [{"source": "PubMed", "value": "19842201"}]}]}, {"attribute": {"type": "Description", "value": "Cardiomyopathy, Dilated, 1X"}}, {"attribute": {"type": "Description", "value": "In 6 Japanese patients from 4 families with dilated cardiomyopathy and mild or no limb-girdle involvement (CMD1X; 611615), Murakami et al. (2006) identified compound heterozygosity in all for the 3-kb retroposon insertion and another missense mutation: Q358P (607440.0010) or R179T (607440.0011), respectively."}, "citations": [{"ids": [{"source": "PubMed", "value": "17036286"}]}], "xrefs": [{"db": "OMIM", "id": "611615", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "FKTN, 3-KB INS, SVA RETROTRANSPOSON INS"}}], "attributes": [{"type": "NonHGVS", "value": "3-KB INS, SVA RETROTRANSPOSON INS"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "FKTN"}}]}], "xrefs": [{"db": "OMIM", "id": "607440.0001", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000015401", "version": 22, "type": "RCV", "date_updated": "2022-08-15", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2003-03-20"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a proband and his mother and sister, all with early-onset obesity (BMIQ20; 618406), Farooqi et al. (2003) identified heterozygosity for a frameshift mutation in the MC4R gene, 112insA, which resulted in complete loss of activity of the protein."}, "citations": [{"ids": [{"source": "PubMed", "value": "12646665"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000014325", "version": 2, "measures": [{"type": "insertion", "names": [{"value": {"type": "Preferred", "value": "MC4R, 1-BP INS, 112A"}}], "attributes": [{"type": "nucleotide change", "value": "1-BP INS, 112A"}], "cytogenic_locations": ["18q22"], "measure_relationship": [{"type": "asserted, but not computed", "names": [{"value": {"type": "Preferred", "value": "melanocortin 4 receptor"}}], "symbols": [{"value": {"type": "Preferred", "value": "MC4R"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "18", "accession": "NC_000018.10", "start": 60371062, "stop": 60372775, "display_start": 60371062, "display_stop": 60372775, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "18", "accession": "NC_000018.9", "start": 58038563, "stop": 58040000, "display_start": 58038563, "display_stop": 58040000, "strand": "-", "variant_length": 1438, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "4160"}, {"db": "OMIM", "id": "155541", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:6932"}]}], "xrefs": [{"db": "OMIM", "id": "155541.0010", "type": "Allelic variant"}], "comments": [{"text": "NCBI staff could not provide an HGVS expression for allelic variant 155541.0010. The location of \"Insertion of A at codon 112 was not specified\".", "type": "public", "datasource": "NCBI curation"}], "id": 29364}], "names": [{"value": {"type": "Preferred", "value": "MC4R, 1-BP INS, 112A"}}], "id": 14325}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20"}, "xrefs": [{"db": "OMIM", "id": "618406", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "MELANOCORTIN 4 RECEPTOR DEFICIENCY"}, "xrefs": [{"db": "OMIM", "id": "618406", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "MC4R DEFICIENCY"}, "xrefs": [{"db": "OMIM", "id": "618406", "type": "MIM"}]}], "symbols": [{"value": {"type": "Preferred", "value": "BMIQ20"}, "xrefs": [{"db": "OMIM", "id": "618406", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "OBESITY"}, "xrefs": [{"db": "OMIM", "id": "618406", "type": "MIM"}]}], "xrefs": [{"db": "MedGen", "id": "C4759928"}, {"db": "OMIM", "id": "618406", "type": "MIM"}]}], "id": 47150}, "date_created": "2013-04-04", "date_last_updated": "2022-08-15", "id": 72904}, "record_status": "current", "title": "MC4R, 1-BP INS, 112A AND BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20", "clinvar_assertions": [{"id": 35662, "submission_id": {"local_key": "155541.0010_OBESITY (BMIQ20)", "submitter": "OMIM", "title": "MC4R, 1-BP INS, 112A_OBESITY (BMIQ20)", "submitter_date": "2019-05-02"}, "clinvar_accession": {"acc": "SCV000035662", "version": 2, "type": "SCV", "date_updated": "2019-05-06", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2003-03-20"}], "external_ids": [{"db": "OMIM", "id": "155541.0010", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In a proband and his mother and sister, all with early-onset obesity (BMIQ20; 618406), Farooqi et al. (2003) identified heterozygosity for a frameshift mutation in the MC4R gene, 112insA, which resulted in complete loss of activity of the protein."}, "citations": [{"ids": [{"source": "PubMed", "value": "12646665"}]}], "xrefs": [{"db": "OMIM", "id": "618406", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "MC4R, 1-BP INS, 112A"}}], "attributes": [{"type": "NonHGVS", "value": "1-BP INS, 112A"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "MC4R"}}]}], "xrefs": [{"db": "OMIM", "id": "155541.0010", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "OBESITY (BMIQ20)"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000076891", "version": 3, "type": "RCV", "date_updated": "2023-01-07", "date_created": "2013-12-19"}, "record_status": "current", "clinical_significance": {"review_status": "reviewed by expert panel", "description": "pathogenic", "date_last_evaluated": "2013-09-05"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000091372", "version": 2, "measures": [{"type": "insertion", "names": [{"value": {"type": "Preferred", "value": "NM_000535.5(PMS2):c.804-60_804-59insJN866832.1"}}], "attributes": [{"type": "HGVS, non-validated", "value": "NM_000535.5:c.804-60_804-59insJN866832.1"}], "cytogenic_locations": ["7p22.1"], "measure_relationship": [{"type": "asserted, but not computed", "names": [{"value": {"type": "Preferred", "value": "PMS1 homolog 2, mismatch repair system component"}}], "symbols": [{"value": {"type": "Preferred", "value": "PMS2"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 5970925, "stop": 6009106, "display_start": 5970925, "display_stop": 6009106, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "start": 6012869, "stop": 6048736, "display_start": 6012869, "display_stop": 6048736, "strand": "-", "variant_length": 35868, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "5395"}, {"db": "OMIM", "id": "600259", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:9122"}], "comments": [{"text": "This gene is cited in the ACMG recommendations of 2013 (PubMed 23788249) for reporting incidental findings in exons.", "type": "public", "datasource": "NCBI curation"}, {"text": "This gene is cited in the ACMG recommendations of 2016 (PubMed 27854360) for reporting incidental findings in exons.", "type": "public", "datasource": "NCBI curation"}, {"text": "This gene is cited in the ACMG recommendations of 2021 (SF v3.0; PubMed 34012068) for reporting secondary findings in clinical exome and genome sequencing.", "type": "public", "datasource": "ClinVar"}, {"text": "This gene is cited in the ACMG recommendations of 2022 (SF v3.1; PubMed 35802134) for reporting secondary findings in clinical exome and genome sequencing.", "type": "public", "datasource": "ClinVar"}]}], "comments": [{"text": "Insertion of retrotransposon SVA_F into intron 7 of PMS2.", "type": "public", "datasource": "NCBI curation"}], "id": 96847}], "names": [{"value": {"type": "Preferred", "value": "NM_000535.5(PMS2):c.804-60_804-59insJN866832.1"}}], "id": 91372}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Lynch syndrome"}, "xrefs": [{"db": "GeneTests", "id": "2622"}, {"db": "Genetic Alliance", "id": "Hereditary+Non-Polyposis+Colorectal+Cancer+%28HNPCC%29/3371"}, {"db": "MONDO", "id": "MONDO:0005835"}]}], "attributes": [{"value": {"type": "public definition", "value": "Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1211"}]}, {"value": {"type": "disease mechanism", "value": "loss of function"}, "xrefs": [{"db": "Genetic Testing Registry (GTR)", "id": "GTR000316595"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000321105"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000322202"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000325623"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000332519"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000512403"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000512828"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000515534"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000515774"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000515821"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000518997"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000518999"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000519150"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000519254"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520030"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520080"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520392"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520394"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520865"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520867"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520868"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520869"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520870"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520871"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520872"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000522224"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000522225"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000522278"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000522559"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000527981"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000527983"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000527984"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000528529"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000528534"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000528914"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000528915"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000528930"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000529017"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000530028"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000530120"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000530202"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000551450"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000551459"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000551461"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000551463"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000551464"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000552183"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000552184"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000552245"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000552440"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000558503"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000558908"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000561860"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000562151"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000568362"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000568365"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000569916"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000569958"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000570011"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000591173"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000591263"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301390"}, {"source": "BookShelf", "value": "NBK1211"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "pmc", "value": "2743612"}], "type": "Position Statement", "abbrev": "EGAPP, 2009"}, {"ids": [{"source": "PubMed", "value": "11598466"}], "type": "practice guideline", "abbrev": "ASCRS, 2001"}, {"ids": [{"source": "PubMed", "value": "15604628"}], "type": "practice guideline", "abbrev": "NSGC, 2004"}, {"ids": [{"source": "PubMed", "value": "23788249"}], "type": "Recommendation", "abbrev": "ACMG, 2013"}, {"type": "Suggested Reading", "abbrev": "AMA/NCHPEG, 2012", "url": "http://www.nchpeg.org/documents/crc/11-0456%20Fact%20sheets%20(MSI%20and%20IHC%20testing).pdf"}, {"type": "practice guideline", "abbrev": "SGO, 2014", "url": "https://www.sgo.org/clinical-practice/guidelines/screening-for-lynch-syndrome-in-endometrial-cancer", "citation_text": "Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer"}, {"ids": [{"source": "PubMed", "value": "25070057"}], "type": "practice guideline", "abbrev": "MSTF, 2014"}, {"ids": [{"source": "PubMed", "value": "24493721"}], "type": "practice guideline", "abbrev": "ASCO, 2014"}, {"ids": [{"source": "pmc", "value": "3585492"}], "type": "practice guideline", "abbrev": "CAPS, 2013"}, {"ids": [{"source": "PubMed", "value": "25452455"}], "type": "practice guideline", "abbrev": "ASCO/ESMO, 2015"}, {"ids": [{"source": "PubMed", "value": "24310308"}], "type": "practice guideline", "abbrev": "ACMG, 2014"}, {"ids": [{"source": "PubMed", "value": "25711197"}], "type": "Recommendation", "abbrev": "Mork et al., 2015"}, {"ids": [{"source": "PubMed", "value": "23535968"}], "type": "practice guideline", "abbrev": "Dutch SCG, 2013"}, {"ids": [{"source": "PubMed", "value": "25645574"}], "type": "practice guideline", "abbrev": "ACG, 2015"}, {"ids": [{"source": "PubMed", "value": "23408351"}], "type": "Recommendation", "abbrev": "Mallorca group, 2013"}, {"ids": [{"source": "PubMed", "value": "25356965"}], "type": "Recommendation", "abbrev": "ACMG, 2015"}, {"ids": [{"source": "PubMed", "value": "27854360"}, {"source": "DOI", "value": "10.1038/gim.2016.190"}], "type": "Recommendation", "abbrev": "ACMG, 2016"}, {"ids": [{"source": "PubMed", "value": "26389505"}], "type": "Suggested Reading", "abbrev": "NCI PDQ, Genetics of Colorectal Cancer"}, {"ids": [{"source": "PubMed", "value": "26389210"}], "type": "Suggested Reading", "abbrev": "NCI PDQ, Breast and Gynecologic Cancers"}, {"ids": [{"source": "PubMed", "value": "26389258"}], "type": "Suggested Reading", "abbrev": "NCI PDQ, Cancer Genetics Counseling"}, {"ids": [{"source": "PubMed", "value": "26324357"}], "type": "Position Statement", "abbrev": "ASCO, 2015"}, {"ids": [{"source": "PubMed", "value": "31672839"}, {"source": "pmc", "value": "7295005"}], "type": "general", "abbrev": "CAPS, 2020"}, {"ids": [{"source": "PubMed", "value": "34043773"}], "type": "practice guideline", "abbrev": "EHTG/ESCP, 2021"}, {"ids": [{"source": "PubMed", "value": "31302137"}], "type": "Suggested Reading", "abbrev": "Goldberg et al, 2019"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0005835"}, {"db": "MedGen", "id": "C4552100"}]}], "id": 8777}, "date_created": "2013-12-19", "date_last_updated": "2023-01-07", "id": 189078}, "record_status": "current", "title": "NM_000535.5(PMS2):c.804-60_804-59insJN866832.1 AND Lynch syndrome", "clinvar_assertions": [{"id": 186778, "submission_id": {"local_key": "c.804-60_804-59insJN866832.1", "submitter": "International Society for Gastrointestinal Hereditary Tumours (InSiGHT)", "submitter_date": "2013-12-18"}, "clinvar_accession": {"acc": "SCV000108389", "version": 3, "type": "SCV", "date_updated": "2022-12-24", "date_created": "2013-12-19", "org_id": "500189", "org_type": "primary", "org_category": "other"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "reviewed by expert panel", "descriptions": ["pathogenic"], "comments": [{"text": "Variant causes splicing aberration due to insertion of SVA repetative element: complete inactivation of variant allele"}], "date_last_evaluated": "2013-09-05"}], "external_ids": [{"db": "InSiGHT", "id": "c.804-60_804-59insJN866832.1", "url": "https://googledrive.com/host/0B8HVsr5izQxJUi1XTzEtWFlRc00/index.html?gene=PMS2&variant=c.804-60_804-59insJN866832.1"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Guidelines v1.9"}, "citations": [{"type": "general", "url": "https://submit.ncbi.nlm.nih.gov/ft/byid/jgfvdvht/2013-08_insight_vic_v1.9.pdf"}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_000535.5:c.804-60_804-59insJN866832.1"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "PMS2"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "Lynch Syndrome"}}]}]}, "comments": [{"text": "Classified with v1.9 guidelines: https://docs.google.com/file/d/0B3JL6rP6JzhoN2EydHRVMEI1UGs"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV002265366", "version": 2, "type": "RCV", "date_updated": "2023-03-04", "date_created": "2022-07-18"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "uncertain significance", "date_last_evaluated": "2022-01-11"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV001695731", "version": 2, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "NM_138576.4(BCL11B):c.1262_1267dup (p.Pro422_Pro423insGlnPro)"}}], "canonical_spdi": "NC_000014.9:99175568:GCGGCTGCGG:GCGGCTGCGGCTGCGG", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001282238.2:c.1046_1051dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_022898.3:c.1049_1054dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001282237.2:c.1259_1264dup"}, {"type": "HGVS, coding, RefSeq", "value": "NM_138576.4:c.1262_1267dup"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_027894.1:g.100912_100917dup"}, {"type": "HGVS, genomic, top level", "value": "NC_000014.9:g.99175573_99175578dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000014.8:g.99641910_99641915dup", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_138576.3:c.1262_1267dup"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001269167.1:p.Pro350_Pro351insGlnPro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_075049.1:p.Pro351_Pro352insGlnPro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001269166.1:p.Pro421_Pro422insGlnPro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_612808.1:p.Pro422_Pro423insGlnPro"}, {"type": "MolecularConsequence", "value": "inframe_insertion", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001821"}, {"db": "RefSeq", "id": "NM_001282237.2:c.1259_1264dup"}]}, {"type": "MolecularConsequence", "value": "inframe_insertion", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001821"}, {"db": "RefSeq", "id": "NM_001282238.2:c.1046_1051dup"}]}, {"type": "MolecularConsequence", "value": "inframe_insertion", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001821"}, {"db": "RefSeq", "id": "NM_022898.3:c.1049_1054dup"}]}, {"type": "MolecularConsequence", "value": "inframe_insertion", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001821"}, {"db": "RefSeq", "id": "NM_138576.4:c.1262_1267dup"}]}], "cytogenic_locations": ["14q32.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "14", "accession": "NC_000014.9", "start": 99175568, "stop": 99175569, "display_start": 99175568, "display_stop": 99175569, "variant_length": 6, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 99175568, "reference_allele_vcf": "G", "alternate_allele_vcf": "GGCGGCT"}, {"assembly": "GRCh37", "chr": "14", "accession": "NC_000014.8", "start": 99641905, "stop": 99641906, "display_start": 99641905, "display_stop": 99641906, "variant_length": 6, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 99641905, "reference_allele_vcf": "G", "alternate_allele_vcf": "GGCGGCT"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "BCL11 transcription factor B"}}], "symbols": [{"value": {"type": "Preferred", "value": "BCL11B"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "14", "accession": "NC_000014.9", "start": 99169287, "stop": 99272197, "display_start": 99169287, "display_stop": 99272197, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "14", "accession": "NC_000014.8", "start": 99635623, "stop": 99737821, "display_start": 99635623, "display_stop": 99737821, "strand": "-", "variant_length": 102199, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "64919"}, {"db": "OMIM", "id": "606558", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:13222"}]}], "id": 1688140}], "names": [{"value": {"type": "Preferred", "value": "NM_138576.4(BCL11B):c.1262_1267dup (p.Pro422_Pro423insGlnPro)"}}], "attributes": [{"type": "SubmitterVariantId", "value": "GDX:5353460"}], "id": 1695731}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "not provided"}, "xrefs": [{"db": "Developmental Genetics Unit, King Faisal Specialist Hospital & Research Centre", "id": "13DG0619"}]}, {"value": {"type": "Alternate", "value": "none provided"}}], "attributes": [{"value": {"type": "public definition", "value": "The term 'not provided' is registered in MedGen to support identification of submissions to ClinVar for which no condition was named when assessing the variant. 'not provided' differs from 'not specified', which is used when a variant is asserted to be benign, likely benign, or of uncertain significance for conditions that have not been specified."}}], "xrefs": [{"db": "MedGen", "id": "CN517202"}]}], "id": 9460}, "date_created": "2022-07-18", "date_last_updated": "2023-03-04", "id": 4986342}, "record_status": "current", "title": "NM_138576.4(BCL11B):c.1262_1267dup (p.Pro422_Pro423insGlnPro) AND not provided", "clinvar_assertions": [{"id": 4985723, "submission_id": {"local_key": "GDXSV:232755", "submitter": "GeneDx", "submitter_date": "2022-07-13"}, "clinvar_accession": {"acc": "SCV002547038", "version": 2, "type": "SCV", "date_updated": "2023-03-04", "date_created": "2022-07-18", "org_id": "26957", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["uncertain significance"], "comments": [{"text": "Not observed at significant frequency in large population cohorts (gnomAD); In-frame Insertion of 2 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge"}], "date_last_evaluated": "2022-01-11"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "GeneDx Variant Classification Process June 2021"}, "citations": [{"url": "https://submit.ncbi.nlm.nih.gov/ft/byid/fc81e176/genedx_variant_classification_process_june_2021.pdf"}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "duplication", "attributes": [{"type": "HGVS", "value": "NM_138576.3:c.1262_1267dup"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "BCL11B"}}]}]}], "attributes": [{"type": "SubmitterVariantId", "value": "GDX:5353460"}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "Not Provided"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000076770", "version": 3, "type": "RCV", "date_updated": "2023-03-26", "date_created": "2013-12-19"}, "record_status": "current", "clinical_significance": {"review_status": "reviewed by expert panel", "description": "pathogenic", "date_last_evaluated": "2013-09-05"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000091265", "version": 2, "measures": [{"type": "insertion", "names": [{"value": {"type": "Preferred", "value": "NM_000251.1(MSH2):c.972_973insNM_002133.2:c.737-1292_737-1109"}}], "attributes": [{"type": "HGVS, non-validated", "value": "NM_000251.1:c.972_973insNM_002133.2:c.737-1292_737-1109"}], "cytogenic_locations": ["2p21-16.3"], "measure_relationship": [{"type": "asserted, but not computed", "names": [{"value": {"type": "Preferred", "value": "mutS homolog 2"}}], "symbols": [{"value": {"type": "Preferred", "value": "MSH2"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 47403067, "stop": 47709830, "display_start": 47403067, "display_stop": 47709830, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 47630205, "stop": 47710366, "display_start": 47630205, "display_stop": 47710366, "strand": "+", "variant_length": 80162, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "4436"}, {"db": "OMIM", "id": "609309", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:7325"}], "comments": [{"text": "This gene is cited in the ACMG recommendations of 2013 (PubMed 23788249) for reporting incidental findings in exons.", "type": "public", "datasource": "NCBI curation"}, {"text": "This gene is cited in the ACMG recommendations of 2016 (PubMed 27854360) for reporting incidental findings in exons.", "type": "public", "datasource": "NCBI curation"}, {"text": "This gene is cited in the ACMG recommendations of 2021 (SF v3.0; PubMed 34012068) for reporting secondary findings in clinical exome and genome sequencing.", "type": "public", "datasource": "ClinVar"}, {"text": "This gene is cited in the ACMG recommendations of 2022 (SF v3.1; PubMed 35802134) for reporting secondary findings in clinical exome and genome sequencing.", "type": "public", "datasource": "ClinVar"}]}], "comments": [{"text": "Insertion of 184-nt sequence from intron 4 of HMOX1 into exon 6 of MSH2.", "type": "public", "datasource": "NCBI curation"}], "id": 96740}], "names": [{"value": {"type": "Preferred", "value": "NM_000251.1(MSH2):c.972_973insNM_002133.2:c.737-1292_737-1109"}}], "id": 91265}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Lynch syndrome"}, "xrefs": [{"db": "GeneTests", "id": "2622"}, {"db": "Genetic Alliance", "id": "Hereditary+Non-Polyposis+Colorectal+Cancer+%28HNPCC%29/3371"}, {"db": "MONDO", "id": "MONDO:0005835"}]}], "attributes": [{"value": {"type": "public definition", "value": "Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1211"}]}, {"value": {"type": "disease mechanism", "value": "loss of function"}, "xrefs": [{"db": "Genetic Testing Registry (GTR)", "id": "GTR000316595"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000321105"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000322202"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000325623"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000332519"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000512403"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000512828"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000515534"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000515774"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000515821"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000518997"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000518999"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000519150"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000519254"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520030"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520080"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520392"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520394"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520865"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520867"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520868"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520869"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520870"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520871"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000520872"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000522224"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000522225"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000522278"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000522559"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000527981"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000527983"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000527984"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000528529"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000528534"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000528914"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000528915"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000528930"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000529017"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000530028"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000530120"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000530202"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000551450"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000551459"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000551461"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000551463"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000551464"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000552183"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000552184"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000552245"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000552440"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000558503"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000558908"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000561860"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000562151"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000568362"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000568365"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000569916"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000569958"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000570011"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000591173"}, {"db": "Genetic Testing Registry (GTR)", "id": "GTR000591263"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301390"}, {"source": "BookShelf", "value": "NBK1211"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "pmc", "value": "2743612"}], "type": "general", "abbrev": "EGAPP, 2009"}, {"ids": [{"source": "PubMed", "value": "11598466"}], "type": "general", "abbrev": "ASCRS, 2001"}, {"ids": [{"source": "PubMed", "value": "15604628"}], "type": "general", "abbrev": "NSGC, 2004"}, {"ids": [{"source": "PubMed", "value": "23788249"}], "type": "general", "abbrev": "ACMG, 2013"}, {"type": "Suggested Reading", "abbrev": "AMA/NCHPEG, 2012", "url": "http://www.nchpeg.org/documents/crc/11-0456%20Fact%20sheets%20(MSI%20and%20IHC%20testing).pdf"}, {"type": "practice guideline", "abbrev": "SGO, 2014", "url": "https://www.sgo.org/clinical-practice/guidelines/screening-for-lynch-syndrome-in-endometrial-cancer", "citation_text": "Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer"}, {"ids": [{"source": "PubMed", "value": "25070057"}], "type": "general", "abbrev": "MSTF, 2014"}, {"ids": [{"source": "PubMed", "value": "24493721"}], "type": "general", "abbrev": "ASCO, 2014"}, {"ids": [{"source": "pmc", "value": "3585492"}], "type": "general", "abbrev": "CAPS, 2013"}, {"ids": [{"source": "PubMed", "value": "25452455"}], "type": "general", "abbrev": "ASCO/ESMO, 2015"}, {"ids": [{"source": "PubMed", "value": "24310308"}], "type": "general", "abbrev": "ACMG, 2014"}, {"ids": [{"source": "PubMed", "value": "25711197"}], "type": "general", "abbrev": "Mork et al., 2015"}, {"ids": [{"source": "PubMed", "value": "23535968"}], "type": "general", "abbrev": "Dutch SCG, 2013"}, {"ids": [{"source": "PubMed", "value": "25645574"}], "type": "general", "abbrev": "ACG, 2015"}, {"ids": [{"source": "PubMed", "value": "23408351"}], "type": "general", "abbrev": "Mallorca group, 2013"}, {"ids": [{"source": "PubMed", "value": "25356965"}], "type": "general", "abbrev": "ACMG, 2015"}, {"ids": [{"source": "PubMed", "value": "27854360"}, {"source": "DOI", "value": "10.1038/gim.2016.190"}], "type": "general", "abbrev": "ACMG, 2016"}, {"ids": [{"source": "PubMed", "value": "26389505"}], "type": "Suggested Reading", "abbrev": "NCI PDQ, Genetics of Colorectal Cancer"}, {"ids": [{"source": "PubMed", "value": "26389210"}], "type": "Suggested Reading", "abbrev": "NCI PDQ, Breast and Gynecologic Cancers"}, {"ids": [{"source": "PubMed", "value": "26389258"}], "type": "Suggested Reading", "abbrev": "NCI PDQ, Cancer Genetics Counseling"}, {"ids": [{"source": "PubMed", "value": "26324357"}], "type": "general", "abbrev": "ASCO, 2015"}, {"ids": [{"source": "PubMed", "value": "31672839"}, {"source": "pmc", "value": "7295005"}], "type": "general", "abbrev": "CAPS, 2020"}, {"ids": [{"source": "PubMed", "value": "34043773"}], "type": "general", "abbrev": "EHTG/ESCP, 2021"}, {"ids": [{"source": "PubMed", "value": "31302137"}], "type": "Suggested Reading", "abbrev": "Goldberg et al, 2019"}, {"type": "practice guideline", "abbrev": "ACMG ACT, 2012", "url": "https://www.acmg.net/PDFLibrary/Colon-Cancer.pdf", "citation_text": "American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0005835"}, {"db": "MedGen", "id": "C4552100"}]}], "id": 8777}, "date_created": "2013-12-19", "date_last_updated": "2023-03-26", "id": 188957}, "record_status": "current", "title": "NM_000251.1(MSH2):c.972_973insNM_002133.2:c.737-1292_737-1109 AND Lynch syndrome", "clinvar_assertions": [{"id": 186648, "submission_id": {"local_key": "c.972_973insNM_002133.2", "submitter": "International Society for Gastrointestinal Hereditary Tumours (InSiGHT)", "submitter_date": "2013-12-18"}, "clinvar_accession": {"acc": "SCV000107808", "version": 3, "type": "SCV", "date_updated": "2022-12-24", "date_created": "2013-12-19", "org_id": "500189", "org_type": "primary", "org_category": "other"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "reviewed by expert panel", "descriptions": ["pathogenic"], "comments": [{"text": "Coding sequence variation resulting in a stop codon"}], "date_last_evaluated": "2013-09-05"}], "external_ids": [{"db": "InSiGHT", "id": "c.972_973insNM_002133.2", "url": "https://googledrive.com/host/0B8HVsr5izQxJUi1XTzEtWFlRc00/index.html?gene=MSH2&variant=c.972_973insNM_002133.2"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Guidelines v1.9"}, "citations": [{"type": "general", "url": "https://submit.ncbi.nlm.nih.gov/ft/byid/jgfvdvht/2013-08_insight_vic_v1.9.pdf"}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_000251.1:c.972_973insNM_002133.2:c.737-1292_737-1109"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "MSH2"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "Lynch Syndrome"}}]}]}, "comments": [{"text": "Classified with v1.9 guidelines: https://docs.google.com/file/d/0B3JL6rP6JzhoN2EydHRVMEI1UGs"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000852264", "version": 1, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2019-09-29"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "likely pathogenic", "date_last_evaluated": "2019-02-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "unknown", "ethnicity": "European", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}, {"attribute": {"type": "SampleLocalID", "value": "TGP0454"}}]}], "measures": {"type": "Variant", "acc": "VCV000627503", "version": 1, "measures": [{"type": "complex", "cytogenic_locations": ["Xq28"], "sequence_locations": [{"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 154156796, "stop": 154227925, "display_start": 154156796, "display_stop": 154227925, "variant_length": 71130, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "coagulation factor VIII"}}], "symbols": [{"value": {"type": "Preferred", "value": "F8"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 154835792, "stop": 155022723, "display_start": 154835792, "display_stop": 155022723, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 154064062, "stop": 154250997, "display_start": 154064062, "display_stop": 154250997, "strand": "-", "variant_length": 186936, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "2157"}, {"db": "OMIM", "id": "300841", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:3546"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "31064749"}], "type": "general"}], "id": 615858}], "names": [{"value": {"type": "Preferred", "value": "Single allele"}}], "id": 627503}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Hereditary factor IX deficiency disease"}, "xrefs": [{"db": "Genetic Alliance", "id": "Hemophilia+B/3315"}, {"db": "SNOMED CT", "id": "41788008"}]}, {"value": {"type": "Alternate", "value": "F9 DEFICIENCY"}, "xrefs": [{"db": "OMIM", "id": "306900", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY"}, "xrefs": [{"db": "OMIM", "id": "306900", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Hemophilia B"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0010604"}]}, {"value": {"type": "Alternate", "value": "Christmas disease"}}, {"value": {"type": "Alternate", "value": "Factor IX deficiency"}}, {"value": {"type": "Alternate", "value": "HEM B"}}], "symbols": [{"value": {"type": "Preferred", "value": "HEMB"}, "xrefs": [{"db": "OMIM", "id": "306900", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "Hemophilia B is characterized by deficiency in factor IX clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor IX clotting activity. In individuals with severe hemophilia B, spontaneous joint or deep-muscle bleeding is the most frequent sign. Individuals with severe hemophilia B are usually diagnosed during the first two years of life; without prophylactic treatment, they may average up to two to five spontaneous bleeding episodes each month. Individuals with moderate hemophilia B seldom have spontaneous bleeding; however, they do have prolonged or delayed oozing after relatively minor trauma and are usually diagnosed before age five to six years; the frequency of bleeding episodes varies from once a month to once a year. Individuals with mild hemophilia B do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions; the frequency of bleeding may vary from once a year to once every ten years. Individuals with mild hemophilia B are often not diagnosed until later in life. In any individual with hemophilia B, bleeding episodes may be more frequent in childhood and adolescence than in adulthood. Approximately 30% of heterozygous females have factor IX clotting activity lower than 40% and are at risk for bleeding (even if the affected family member has mild hemophilia B), although symptoms are usually mild. After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1495"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "8732"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301668"}, {"source": "BookShelf", "value": "NBK1495"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "22274582"}], "type": "Translational/Evidence-based", "abbrev": "EuroGenetest, 2012"}, {"ids": [{"source": "PubMed", "value": "23157203"}], "type": "practice guideline", "abbrev": "UKHCDO, 2013"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0010604"}, {"db": "MeSH", "id": "D002836"}, {"db": "MedGen", "id": "C0008533"}, {"db": "Orphanet", "id": "98879"}, {"db": "OMIM", "id": "306900", "type": "MIM"}]}], "id": 2993}, "date_created": "2019-09-29", "date_last_updated": "2022-04-23", "id": 1950334}, "record_status": "current", "title": "Single allele AND Hereditary factor IX deficiency disease", "clinvar_assertions": [{"id": 1769984, "submission_id": {"local_key": "154156796_306900", "submitter": "NIHR Bioresource Rare Diseases, University of Cambridge", "submitted_assembly": "GRCh37", "submitter_date": "2019-03-28"}, "clinvar_accession": {"acc": "SCV000900011", "version": 1, "type": "SCV", "date_updated": "2019-09-29", "date_created": "2019-09-29", "org_id": "505998", "org_type": "primary", "org_category": "consortium"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["likely pathogenic"], "citations": [{"ids": [{"source": "PubMed", "value": "31064749"}], "type": "general"}], "date_last_evaluated": "2019-02-01"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "ACMG Guidelines, 2015"}, "citations": [{"ids": [{"source": "PubMed", "value": "25741868"}]}]}], "observed_in": [{"sample": {"origin": "unknown", "ethnicity": "European", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1, "gender": "male"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "Hemizygote", "integer_value": 1}}, {"attribute": {"type": "SampleLocalID", "value": "TGP0454"}}]}], "measures": {"type": "Variant", "measures": [{"type": "complex", "sequence_locations": [{"assembly": "GRCh37", "chr": "X", "start": 154156796, "stop": 154227925, "variant_length": 71130}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "F8"}}]}]}], "comments": [{"text": "Deletion of intron 1 to intron 6 ; Inversion of intron 6 to intron 13; Deletion X:154,145,074 - 154,171,298 - intron 13 to intron 14"}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "306900", "type": "MIM"}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "31064749"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "31064749"}], "type": "general"}], "study_name": "ThromboGenomics"}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV001580364", "version": 1, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2021-08-27"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "likely pathogenic"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV001210283", "version": 1, "measures": [{"type": "complex", "names": [{"value": {"type": "Preferred", "value": "NC_000023.11:g.[124350560_124365777del;124365777_124365917inv;124365911_124365916del]"}}], "attributes": [{"type": "HGVS, genomic, top level", "value": "NC_000023.11:g.[124350560_124365777del;124365777_124365917inv;124365911_124365916del]", "integer_value": 38}], "measure_relationship": [{"type": "asserted, but not computed", "names": [{"value": {"type": "Preferred", "value": "SH2 domain containing 1A"}}], "symbols": [{"value": {"type": "Preferred", "value": "SH2D1A"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 124346563, "stop": 124373160, "display_start": 124346563, "display_stop": 124373160, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 123480131, "stop": 123507009, "display_start": 123480131, "display_stop": 123507009, "strand": "+", "variant_length": 26879, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "4068"}, {"db": "OMIM", "id": "300490", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:10820"}]}], "id": 1200283}], "names": [{"value": {"type": "Preferred", "value": "NC_000023.11:g.[124350560_124365777del;124365777_124365917inv;124365911_124365916del]"}}], "id": 1210283}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "X-linked lymphoproliferative disease due to SH2D1A deficiency"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0024551"}]}, {"value": {"type": "Alternate", "value": "IMMUNODEFICIENCY 5"}, "xrefs": [{"db": "OMIM", "id": "308240", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE"}, "xrefs": [{"db": "OMIM", "id": "308240", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO"}, "xrefs": [{"db": "OMIM", "id": "308240", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Lymphoproliferative syndrome 1, X-linked"}, "xrefs": [{"db": "Genetic Alliance", "id": "Lymphoproliferative+syndrome+X-linked+1/4379"}]}, {"value": {"type": "Alternate", "value": "Purtilo syndrome"}}, {"value": {"type": "Alternate", "value": "EBV infection severe susceptibility to"}}, {"value": {"type": "Alternate", "value": "Epstein Barr virus infection familial fatal"}}, {"value": {"type": "Alternate", "value": "Duncan's syndrome"}}, {"value": {"type": "Alternate", "value": "Duncan disease"}}], "symbols": [{"value": {"type": "Alternate", "value": "LYP"}, "xrefs": [{"db": "OMIM", "id": "308240", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "XLP"}, "xrefs": [{"db": "OMIM", "id": "308240", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "EBVS"}, "xrefs": [{"db": "OMIM", "id": "308240", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "IMD5"}, "xrefs": [{"db": "OMIM", "id": "308240", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "XLP1"}, "xrefs": [{"db": "OMIM", "id": "308240", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "XLPD"}, "xrefs": [{"db": "OMIM", "id": "308240", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1406"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "7906"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301580"}, {"source": "BookShelf", "value": "NBK1406"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0024551"}, {"db": "MedGen", "id": "C5399825"}, {"db": "Orphanet", "id": "2442"}, {"db": "OMIM", "id": "308240", "type": "MIM"}]}], "id": 3039}, "date_created": "2021-08-27", "date_last_updated": "2022-04-23", "id": 3551069}, "record_status": "current", "title": "NC_000023.11:g.[124350560_124365777del;124365777_124365917inv;124365911_124365916del] AND X-linked lymphoproliferative disease due to SH2D1A deficiency", "clinvar_assertions": [{"id": 3550971, "submission_id": {"local_key": "SUB10199849", "submitter": "Department of Neurology, Hunan Children's Hospital", "title": "SUB10199849", "submitted_assembly": "GRCh38", "submitter_date": "2021-08-25"}, "clinvar_accession": {"acc": "SCV001786702", "version": 1, "type": "SCV", "date_updated": "2021-08-27", "date_created": "2021-08-27", "org_id": "508218", "org_type": "primary", "org_category": "clinic"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["likely pathogenic"], "comments": [{"text": "We use extended WES to identify a novel genomic structure variation combined by paracentric inversion and large size deletions of the SH2D1A gene in an XLP1 male patient. The variant functionally disrupted the splice site causing the exon 2 skipping was confirmed by Inversion-PCR, RT-PCR, and Gap-PCR."}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "gender": "male"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Hemizygote", "integer_value": 1}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NC_000023.11:g.[124350560_124365777del;124365777_124365917inv;124365911_124365916del]"}], "measure_relationship": [{"type": "variant in gene", "names": [{"value": {"type": "Preferred", "value": "SH2 domain containing 1A"}}], "symbols": [{"value": {"type": "Preferred", "value": "SH2D1A"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "308240"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000626017", "version": 2, "type": "RCV", "date_updated": "2022-08-15", "date_created": "2018-04-29"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "uncertain significance", "date_last_evaluated": "2017-10-25"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "maternal", "ethnicity": "White", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000522844", "version": 2, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_001330078.2(NRXN1):c.3364+13144G>A"}}], "canonical_spdi": "NC_000002.12:50452297:C:T", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001330087.2:c.3253+13144G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001330096.2:c.3253+13144G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001330088.2:c.3283+13144G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001330083.2:c.3298+13144G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001330084.2:c.3298+13144G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001330095.2:c.3313+13144G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001330085.2:c.3337+13144G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001330077.2:c.3340+13144G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001330082.2:c.3340+13144G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001330094.2:c.3352+13144G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001330093.2:c.3361+13144G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001330078.2:c.3364+13144G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001330086.2:c.3364+13144G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_004801.6:c.3364+13144G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001135659.3:c.3484+13144G>A"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_011878.1:g.585239G>A"}, {"type": "HGVS, genomic, top level", "value": "NC_000002.12:g.50452298C>T", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.11:g.50679436C>T", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_004801.4:c.3364+13144G>A"}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001135659.3:c.3484+13144G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001330077.2:c.3340+13144G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001330078.2:c.3364+13144G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001330082.2:c.3340+13144G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001330083.2:c.3298+13144G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001330084.2:c.3298+13144G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001330085.2:c.3337+13144G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001330086.2:c.3364+13144G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001330087.2:c.3253+13144G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001330088.2:c.3283+13144G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001330093.2:c.3361+13144G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001330094.2:c.3352+13144G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001330095.2:c.3313+13144G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001330096.2:c.3253+13144G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_004801.6:c.3364+13144G>A"}]}], "global_minor_allele_frequency": {"value": 0.0008, "source": "1000 Genomes Project", "minor_allele": "T"}, "cytogenic_locations": ["2p16.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 50452298, "stop": 50452298, "display_start": 50452298, "display_stop": 50452298, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 50452298, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 50679436, "stop": 50679436, "display_start": 50679436, "display_stop": 50679436, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 50679436, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "neurexin 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "NRXN1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 49918503, "stop": 51032132, "display_start": 49918503, "display_stop": 51032132, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 50145642, "stop": 51259673, "display_start": 50145642, "display_stop": 51259673, "strand": "-", "variant_length": 1114032, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "9378"}, {"db": "OMIM", "id": "600565", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:8008"}]}], "xrefs": [{"db": "Undiagnosed Diseases Network, NIH", "id": "62ae4dd6-97aa-41e9-a754-9fee930f3330_2"}, {"db": "dbSNP", "id": "188620205", "type": "rs"}], "id": 513413}], "names": [{"value": {"type": "Preferred", "value": "NM_001330078.2(NRXN1):c.3364+13144G>A"}}], "xrefs": [{"db": "ClinGen", "id": "CA47943100"}], "id": 522844}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Pitt-Hopkins-like syndrome 2"}, "xrefs": [{"db": "Genetic Alliance", "id": "Pitt-Hopkins-like+syndrome+2/9116"}, {"db": "MONDO", "id": "MONDO:0013690"}]}], "symbols": [{"value": {"type": "Preferred", "value": "PTHSL2"}, "xrefs": [{"db": "OMIM", "id": "614325", "type": "MIM"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0013690"}, {"db": "MedGen", "id": "C3280479"}, {"db": "Orphanet", "id": "221150"}, {"db": "OMIM", "id": "614325", "type": "MIM"}]}], "id": 2489}, "date_created": "2018-04-29", "date_last_updated": "2022-08-15", "id": 1454600}, "record_status": "current", "title": "NM_001330078.2(NRXN1):c.3364+13144G>A AND Pitt-Hopkins-like syndrome 2", "clinvar_assertions": [{"id": 1453982, "submission_id": {"local_key": "62ae4dd6-97aa-41e9-a754-9fee930f3330_2|OMIM:614325", "submitter": "Undiagnosed Diseases Network, NIH", "submitted_assembly": "GRCh37", "submitter_date": "2018-03-27"}, "clinvar_accession": {"acc": "SCV000746626", "version": 1, "type": "SCV", "date_updated": "2018-04-29", "date_created": "2018-04-29", "org_id": "505999", "org_type": "primary", "org_category": "consortium"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["uncertain significance"], "comments": [{"text": "Compound heterozygous NRXN1 variants of uncertain significance were identified. Our patient's phenotype, while relatively non-specific, does seem to be a good fit for this condition."}], "date_last_evaluated": "2017-10-25"}], "external_ids": [{"db": "Undiagnosed Diseases Network", "id": "62ae4dd6-97aa-41e9-a754-9fee930f3330_2"}], "attributes": [{"attribute": {"type": "ModeOfInheritance", "value": "Autosomal recessive inheritance"}}, {"attribute": {"type": "AssertionMethod", "value": "ACMG Guidelines, 2015"}, "citations": [{"ids": [{"source": "PubMed", "value": "25741868"}]}]}], "observed_in": [{"sample": {"origin": "maternal", "ethnicity": "White", "species": {"value": "human", "taxonomy_id": 9606}, "age": [{"age_unit": "years", "value": 10, "type": "minimum"}, {"age_unit": "years", "value": 19, "type": "maximum"}], "affected_status": "yes", "gender": "female"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}, {"attribute": {"type": "CompoundHeterozygote", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Ventriculomegaly"}}], "xrefs": [{"db": "HP", "id": "HP:0002119"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Tapered finger"}}], "xrefs": [{"db": "HP", "id": "HP:0001182"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "T2 hypointense basal ganglia"}}], "xrefs": [{"db": "HP", "id": "HP:0012753"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Severe global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0011344"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Seizures"}}], "xrefs": [{"db": "HP", "id": "HP:0001250"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Receptive language delay"}}], "xrefs": [{"db": "HP", "id": "HP:0010863"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Obsessive-compulsive behavior"}}], "xrefs": [{"db": "HP", "id": "HP:0000722"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Muscular hypotonia"}}], "xrefs": [{"db": "HP", "id": "HP:0001252"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Metatarsus adductus"}}], "xrefs": [{"db": "HP", "id": "HP:0001840"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Mandibular prognathia"}}], "xrefs": [{"db": "HP", "id": "HP:0000303"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Malar prominence"}}], "xrefs": [{"db": "HP", "id": "HP:0010620"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Inversion of nipple"}}], "xrefs": [{"db": "HP", "id": "HP:0003186"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "High anterior hairline"}}], "xrefs": [{"db": "HP", "id": "HP:0009890"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Gait ataxia"}}], "xrefs": [{"db": "HP", "id": "HP:0002066"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Elbow flexion contracture"}}], "xrefs": [{"db": "HP", "id": "HP:0002987"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Delayed gross motor development"}}], "xrefs": [{"db": "HP", "id": "HP:0002194"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Delayed CNS myelination"}}], "xrefs": [{"db": "HP", "id": "HP:0002188"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Deeply set eye"}}], "xrefs": [{"db": "HP", "id": "HP:0000490"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Cognitive impairment"}}], "xrefs": [{"db": "HP", "id": "HP:0100543"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Tongue tie"}}], "xrefs": [{"db": "HP", "id": "HP:0010296"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Aggressive behavior"}}], "xrefs": [{"db": "HP", "id": "HP:0000718"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Absent speech"}}], "xrefs": [{"db": "HP", "id": "HP:0001344"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the thumb"}}], "xrefs": [{"db": "HP", "id": "HP:0001172"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_004801.4:c.3364+13144G>A"}], "sequence_locations": [{"assembly": "GRCh37", "chr": "2", "start": 50679436, "stop": 50679436, "variant_length": 1, "reference_allele": "C", "alternate_allele": "T"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "NRXN1"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "614325", "type": "MIM"}]}]}, "study_name": "Undiagnosed Diseases Network (NIH), UDN"}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000622432", "version": 2, "type": "RCV", "date_updated": "2023-01-07", "date_created": "2018-04-15"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "pathogenic", "date_last_evaluated": "2017-01-12"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "ethnicity": "Unknown", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000521350", "version": 3, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "NM_152594.3(SPRED1):c.493dup (p.Ser165fs)"}}], "canonical_spdi": "NC_000015.10:38339805:A:AA", "attributes": [{"type": "HGVS, coding", "value": "NM_152594.2:c.493dupA"}, {"type": "HGVS, coding, RefSeq", "value": "NM_152594.3:c.493dup"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_008980.1:g.91956dup"}, {"type": "HGVS, genomic, top level", "value": "NC_000015.10:g.38339806dup", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000015.9:g.38632007dup", "integer_value": 37}, {"type": "HGVS, protein, RefSeq", "value": "NP_689807.1:p.Ser165fs"}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_152594.3:c.493dup"}]}, {"type": "ProteinChange1LetterCode", "value": "S165fs"}], "cytogenic_locations": ["15q14"], "sequence_locations": [{"assembly": "GRCh38", "chr": "15", "accession": "NC_000015.10", "start": 38339805, "stop": 38339806, "display_start": 38339805, "display_stop": 38339806, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 38339805, "reference_allele_vcf": "C", "alternate_allele_vcf": "CA"}, {"assembly": "GRCh37", "chr": "15", "accession": "NC_000015.9", "start": 38632006, "stop": 38632007, "display_start": 38632006, "display_stop": 38632007, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 38632006, "reference_allele_vcf": "C", "alternate_allele_vcf": "CA"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "sprouty related EVH1 domain containing 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "SPRED1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "15", "accession": "NC_000015.10", "start": 38252836, "stop": 38357249, "display_start": 38252836, "display_stop": 38357249, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "15", "accession": "NC_000015.9", "start": 38545051, "stop": 38649449, "display_start": 38545051, "display_stop": 38649449, "strand": "+", "variant_length": 104399, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "161742"}, {"db": "OMIM", "id": "609291", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:20249"}]}], "xrefs": [{"db": "dbSNP", "id": "1555392032", "type": "rs"}], "id": 512137}], "names": [{"value": {"type": "Preferred", "value": "NM_152594.3(SPRED1):c.493dup (p.Ser165fs)"}}], "xrefs": [{"db": "ClinGen", "id": "CA658798298"}], "id": 521350}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Inborn genetic diseases"}}], "citations": [{"ids": [{"source": "PubMed", "value": "22947299"}], "type": "practice guideline", "abbrev": "Langer et al., 2012"}, {"ids": [{"source": "PubMed", "value": "23037933"}], "type": "Recommendation", "abbrev": "SACHDNC, 2013"}, {"ids": [{"source": "PubMed", "value": "23169492"}], "type": "Position Statement", "abbrev": "EASAC/FEAM, 2013"}, {"ids": [{"source": "PubMed", "value": "25626707"}], "type": "Position Statement", "abbrev": "ESHG/P3G/HUGO/PHGF, 2015"}, {"ids": [{"source": "PubMed", "value": "24121147"}], "type": "general", "abbrev": "Alpha-1 Foundation, 2014"}, {"ids": [{"source": "PubMed", "value": "24394680"}], "type": "practice guideline", "abbrev": "NBSTRN, 2015"}, {"ids": [{"source": "PubMed", "value": "23652378"}], "type": "Position Statement", "abbrev": "EUNENBS, 2014"}, {"ids": [{"source": "PubMed", "value": "23881473"}], "type": "Position Statement", "abbrev": "NSGC, 2014"}, {"ids": [{"source": "PubMed", "value": "25730230"}], "type": "Position Statement", "abbrev": "ACMG/ACOG/NSGC/PQF/SMFM, 2015"}, {"ids": [{"source": "PubMed", "value": "24022298"}], "type": "practice guideline", "abbrev": "Skirton et al., 2014"}, {"ids": [{"source": "PubMed", "value": "23619275"}], "type": "Position Statement", "abbrev": "ACMG, 2013"}, {"ids": [{"source": "PubMed", "value": "31022120"}], "type": "Recommendation", "abbrev": "ACOG, 2019"}], "xrefs": [{"db": "MeSH", "id": "D030342"}, {"db": "MedGen", "id": "C0950123"}]}], "id": 25797}, "date_created": "2018-04-15", "date_last_updated": "2023-01-07", "id": 1447053}, "record_status": "current", "title": "NM_152594.3(SPRED1):c.493dup (p.Ser165fs) AND Inborn genetic diseases", "clinvar_assertions": [{"id": 1445679, "submission_id": {"local_key": "a8663446", "submitter": "Ambry Genetics", "submitted_assembly": "GRCh37", "submitter_date": "2020-10-09"}, "clinvar_accession": {"acc": "SCV000741885", "version": 3, "type": "SCV", "date_updated": "2023-01-07", "date_created": "2018-04-15", "org_id": "61756", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["pathogenic"], "date_last_evaluated": "2017-01-12"}], "external_ids": [{"db": "Ambry Genetics", "id": "a8663446"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Ambry exome assertion method (8-5-2015)"}, "citations": [{"url": "https://submit.ncbi.nlm.nih.gov/ft/byid/xlwdlsvu/ambry_exome_assertion_method_8-5-2015_.pdf"}]}], "observed_in": [{"sample": {"origin": "germline", "ethnicity": "Unknown", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1, "gender": "male", "family_data": {"pedigree_id": "a979310"}, "proband": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Muscular hypotonia"}}], "xrefs": [{"db": "HP", "id": "HP:0001252"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Failure to thrive"}}], "xrefs": [{"db": "HP", "id": "HP:0001508"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Relative macrocephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0004482"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Heart murmur"}}], "xrefs": [{"db": "HP", "id": "HP:0030148"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Sacral dimple"}}], "xrefs": [{"db": "HP", "id": "HP:0000960"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Tethered cord"}}], "xrefs": [{"db": "HP", "id": "HP:0002144"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Pectus excavatum"}}], "xrefs": [{"db": "HP", "id": "HP:0000767"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Inversion of nipple"}}], "xrefs": [{"db": "HP", "id": "HP:0003186"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hypertelorism"}}], "xrefs": [{"db": "HP", "id": "HP:0000316"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Depressed nasal bridge"}}], "xrefs": [{"db": "HP", "id": "HP:0005280"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Bulbous nose"}}], "xrefs": [{"db": "HP", "id": "HP:0000414"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Posteriorly rotated ears"}}], "xrefs": [{"db": "HP", "id": "HP:0000358"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Facial asymmetry"}}], "xrefs": [{"db": "HP", "id": "HP:0000324"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Plagiocephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0001357"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Low-set ears"}}], "xrefs": [{"db": "HP", "id": "HP:0000369"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hypospadias, penile"}}], "xrefs": [{"db": "HP", "id": "HP:0000047"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Gastroesophageal reflux"}}], "xrefs": [{"db": "HP", "id": "HP:0002020"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Cafe-au-lait spot"}}], "xrefs": [{"db": "HP", "id": "HP:0000957"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_152594.2:c.493dupA"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "SPRED1"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MeSH", "id": "D030342"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000622481", "version": 2, "type": "RCV", "date_updated": "2023-01-07", "date_created": "2018-04-15"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "pathogenic", "date_last_evaluated": "2016-04-25"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "ethnicity": "Hispanic", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000521037", "version": 3, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "NM_078480.3(PUF60):c.496del (p.Thr166fs)"}}], "canonical_spdi": "NC_000008.11:143818386:T:", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001271100.2:c.316del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001271097.2:c.358del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001136033.3:c.367del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001271099.2:c.409del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001271096.2:c.442del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_014281.5:c.445del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001271098.2:c.493del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_078480.3:c.496del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001362897.2:c.556del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001362895.2:c.607del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001362896.2:c.607del"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_033879.1:g.16000del"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_030583.1:g.1993del"}, {"type": "HGVS, genomic, top level", "value": "NC_000008.11:g.143818387del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000008.10:g.144900557del", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_078480.1:c.496delA"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001258029.1:p.Thr106fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001258026.1:p.Thr120fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001129505.1:p.Thr123fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001258028.1:p.Thr137fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001258025.1:p.Thr148fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_055096.2:p.Thr149fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001258027.1:p.Thr165fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_510965.1:p.Thr166fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001349826.1:p.Thr186fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001349824.1:p.Thr203fs"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001349825.1:p.Thr203fs"}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_001136033.3:c.367del"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_001271096.2:c.442del"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_001271097.2:c.358del"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_001271098.2:c.493del"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_001271099.2:c.409del"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_001271100.2:c.316del"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_001362895.2:c.607del"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_001362896.2:c.607del"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_001362897.2:c.556del"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_014281.5:c.445del"}]}, {"type": "MolecularConsequence", "value": "frameshift variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001589"}, {"db": "RefSeq", "id": "NM_078480.3:c.496del"}]}, {"type": "ProteinChange1LetterCode", "value": "T106fs"}, {"type": "ProteinChange1LetterCode", "value": "T120fs"}, {"type": "ProteinChange1LetterCode", "value": "T123fs"}, {"type": "ProteinChange1LetterCode", "value": "T137fs"}, {"type": "ProteinChange1LetterCode", "value": "T148fs"}, {"type": "ProteinChange1LetterCode", "value": "T149fs"}, {"type": "ProteinChange1LetterCode", "value": "T165fs"}, {"type": "ProteinChange1LetterCode", "value": "T166fs"}, {"type": "ProteinChange1LetterCode", "value": "T186fs"}, {"type": "ProteinChange1LetterCode", "value": "T203fs"}], "cytogenic_locations": ["8q24.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "8", "accession": "NC_000008.11", "start": 143818387, "stop": 143818387, "display_start": 143818387, "display_stop": 143818387, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 143818386, "reference_allele_vcf": "GT", "alternate_allele_vcf": "G"}, {"assembly": "GRCh37", "chr": "8", "accession": "NC_000008.10", "start": 144900557, "stop": 144900557, "display_start": 144900557, "display_stop": 144900557, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 144900556, "reference_allele_vcf": "GT", "alternate_allele_vcf": "G"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "poly(U) binding splicing factor 60"}}], "symbols": [{"value": {"type": "Preferred", "value": "PUF60"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "8", "accession": "NC_000008.11", "start": 143816344, "stop": 143829315, "display_start": 143816344, "display_stop": 143829315, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "8", "accession": "NT_187571.1", "start": 293391, "stop": 304748, "display_start": 293391, "display_stop": 304748, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "8", "accession": "NC_000008.10", "start": 144898513, "stop": 144911555, "display_start": 144898513, "display_stop": 144911555, "strand": "-", "variant_length": 13043, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "22827"}, {"db": "OMIM", "id": "604819", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:17042"}]}], "xrefs": [{"db": "dbSNP", "id": "1554643463", "type": "rs"}], "id": 511742}], "names": [{"value": {"type": "Preferred", "value": "NM_078480.3(PUF60):c.496del (p.Thr166fs)"}}], "xrefs": [{"db": "ClinGen", "id": "CA658797155"}], "id": 521037}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Inborn genetic diseases"}}], "citations": [{"ids": [{"source": "PubMed", "value": "22947299"}], "type": "practice guideline", "abbrev": "Langer et al., 2012"}, {"ids": [{"source": "PubMed", "value": "23037933"}], "type": "Recommendation", "abbrev": "SACHDNC, 2013"}, {"ids": [{"source": "PubMed", "value": "23169492"}], "type": "Position Statement", "abbrev": "EASAC/FEAM, 2013"}, {"ids": [{"source": "PubMed", "value": "25626707"}], "type": "Position Statement", "abbrev": "ESHG/P3G/HUGO/PHGF, 2015"}, {"ids": [{"source": "PubMed", "value": "24121147"}], "type": "general", "abbrev": "Alpha-1 Foundation, 2014"}, {"ids": [{"source": "PubMed", "value": "24394680"}], "type": "practice guideline", "abbrev": "NBSTRN, 2015"}, {"ids": [{"source": "PubMed", "value": "23652378"}], "type": "Position Statement", "abbrev": "EUNENBS, 2014"}, {"ids": [{"source": "PubMed", "value": "23881473"}], "type": "Position Statement", "abbrev": "NSGC, 2014"}, {"ids": [{"source": "PubMed", "value": "25730230"}], "type": "Position Statement", "abbrev": "ACMG/ACOG/NSGC/PQF/SMFM, 2015"}, {"ids": [{"source": "PubMed", "value": "24022298"}], "type": "practice guideline", "abbrev": "Skirton et al., 2014"}, {"ids": [{"source": "PubMed", "value": "23619275"}], "type": "Position Statement", "abbrev": "ACMG, 2013"}, {"ids": [{"source": "PubMed", "value": "31022120"}], "type": "Recommendation", "abbrev": "ACOG, 2019"}], "xrefs": [{"db": "MeSH", "id": "D030342"}, {"db": "MedGen", "id": "C0950123"}]}], "id": 25797}, "date_created": "2018-04-15", "date_last_updated": "2023-01-07", "id": 1447102}, "record_status": "current", "title": "NM_078480.3(PUF60):c.496del (p.Thr166fs) AND Inborn genetic diseases", "clinvar_assertions": [{"id": 1445235, "submission_id": {"local_key": "a441743", "submitter": "Ambry Genetics", "submitted_assembly": "GRCh37", "submitter_date": "2020-10-09"}, "clinvar_accession": {"acc": "SCV000741443", "version": 3, "type": "SCV", "date_updated": "2023-01-07", "date_created": "2018-04-15", "org_id": "61756", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["pathogenic"], "date_last_evaluated": "2016-04-25"}], "external_ids": [{"db": "Ambry Genetics", "id": "a441743"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Ambry exome assertion method (8-5-2015)"}, "citations": [{"url": "https://submit.ncbi.nlm.nih.gov/ft/byid/xlwdlsvu/ambry_exome_assertion_method_8-5-2015_.pdf"}]}], "observed_in": [{"sample": {"origin": "germline", "ethnicity": "Hispanic", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1, "gender": "female", "family_data": {"pedigree_id": "a856888"}, "proband": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Ventricular septal defect"}}], "xrefs": [{"db": "HP", "id": "HP:0001629"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Short stature"}}], "xrefs": [{"db": "HP", "id": "HP:0004322"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental dysplasia of the hip"}}], "xrefs": [{"db": "HP", "id": "HP:0001374"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Microcephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0000252"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Increased body weight"}}], "xrefs": [{"db": "HP", "id": "HP:0004324"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Muscular hypotonia"}}], "xrefs": [{"db": "HP", "id": "HP:0001252"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Muscle weakness"}}], "xrefs": [{"db": "HP", "id": "HP:0001324"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Pain"}}], "xrefs": [{"db": "HP", "id": "HP:0012531"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Joint hypermobility"}}], "xrefs": [{"db": "HP", "id": "HP:0001382"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Genu valgum"}}], "xrefs": [{"db": "HP", "id": "HP:0002857"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Pes planus"}}], "xrefs": [{"db": "HP", "id": "HP:0001763"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Broad-based gait"}}], "xrefs": [{"db": "HP", "id": "HP:0002136"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Genu varum"}}], "xrefs": [{"db": "HP", "id": "HP:0002970"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Broad face"}}], "xrefs": [{"db": "HP", "id": "HP:0000283"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Broad neck"}}], "xrefs": [{"db": "HP", "id": "HP:0000475"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Low posterior hairline"}}], "xrefs": [{"db": "HP", "id": "HP:0002162"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Epicanthus"}}], "xrefs": [{"db": "HP", "id": "HP:0000286"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Thickened helices"}}], "xrefs": [{"db": "HP", "id": "HP:0000391"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Short columella"}}], "xrefs": [{"db": "HP", "id": "HP:0002000"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Prominent nose"}}], "xrefs": [{"db": "HP", "id": "HP:0000448"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Dental crowding"}}], "xrefs": [{"db": "HP", "id": "HP:0000678"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Thin vermilion border"}}], "xrefs": [{"db": "HP", "id": "HP:0000233"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Inversion of nipple"}}], "xrefs": [{"db": "HP", "id": "HP:0003186"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Wide intermamillary distance"}}], "xrefs": [{"db": "HP", "id": "HP:0006610"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Lumbar hyperlordosis"}}], "xrefs": [{"db": "HP", "id": "HP:0002938"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Relatively short spine"}}], "xrefs": [{"db": "HP", "id": "HP:0002766"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_078480.1:c.496delA"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "PUF60"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MeSH", "id": "D030342"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000622575", "version": 2, "type": "RCV", "date_updated": "2023-01-07", "date_created": "2018-04-15"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "uncertain significance", "date_last_evaluated": "2017-01-06"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "ethnicity": "Hispanic", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000521495", "version": 3, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_001448.3(GPC4):c.1463A>G (p.Asp488Gly)"}}], "canonical_spdi": "NC_000023.11:133303170:T:C", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001448.3:c.1463A>G"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_012498.1:g.117007A>G"}, {"type": "HGVS, genomic, top level", "value": "NC_000023.11:g.133303171T>C", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000023.10:g.132437199T>C", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_001448.2:c.1463A>G"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001439.2:p.Asp488Gly"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001448.3:c.1463A>G"}]}, {"type": "ProteinChange1LetterCode", "value": "D488G"}], "global_minor_allele_frequency": {"value": 0.00026, "source": "1000 Genomes Project", "minor_allele": "C"}, "cytogenic_locations": ["Xq26.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 133303171, "stop": 133303171, "display_start": 133303171, "display_stop": 133303171, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 133303171, "reference_allele_vcf": "T", "alternate_allele_vcf": "C"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 132437199, "stop": 132437199, "display_start": 132437199, "display_stop": 132437199, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 132437199, "reference_allele_vcf": "T", "alternate_allele_vcf": "C"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "glypican 4"}}], "symbols": [{"value": {"type": "Preferred", "value": "GPC4"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 133300103, "stop": 133415489, "display_start": 133300103, "display_stop": 133415489, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 132435063, "stop": 132549204, "display_start": 132435063, "display_stop": 132549204, "strand": "-", "variant_length": 114142, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "2239"}, {"db": "OMIM", "id": "300168", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:4452"}]}], "xrefs": [{"db": "dbSNP", "id": "757553320", "type": "rs"}], "id": 512589}], "names": [{"value": {"type": "Preferred", "value": "NM_001448.3(GPC4):c.1463A>G (p.Asp488Gly)"}}], "xrefs": [{"db": "ClinGen", "id": "CA10520311"}], "id": 521495}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Inborn genetic diseases"}}], "citations": [{"ids": [{"source": "PubMed", "value": "22947299"}], "type": "practice guideline", "abbrev": "Langer et al., 2012"}, {"ids": [{"source": "PubMed", "value": "23037933"}], "type": "Recommendation", "abbrev": "SACHDNC, 2013"}, {"ids": [{"source": "PubMed", "value": "23169492"}], "type": "Position Statement", "abbrev": "EASAC/FEAM, 2013"}, {"ids": [{"source": "PubMed", "value": "25626707"}], "type": "Position Statement", "abbrev": "ESHG/P3G/HUGO/PHGF, 2015"}, {"ids": [{"source": "PubMed", "value": "24121147"}], "type": "general", "abbrev": "Alpha-1 Foundation, 2014"}, {"ids": [{"source": "PubMed", "value": "24394680"}], "type": "practice guideline", "abbrev": "NBSTRN, 2015"}, {"ids": [{"source": "PubMed", "value": "23652378"}], "type": "Position Statement", "abbrev": "EUNENBS, 2014"}, {"ids": [{"source": "PubMed", "value": "23881473"}], "type": "Position Statement", "abbrev": "NSGC, 2014"}, {"ids": [{"source": "PubMed", "value": "25730230"}], "type": "Position Statement", "abbrev": "ACMG/ACOG/NSGC/PQF/SMFM, 2015"}, {"ids": [{"source": "PubMed", "value": "24022298"}], "type": "practice guideline", "abbrev": "Skirton et al., 2014"}, {"ids": [{"source": "PubMed", "value": "23619275"}], "type": "Position Statement", "abbrev": "ACMG, 2013"}, {"ids": [{"source": "PubMed", "value": "31022120"}], "type": "Recommendation", "abbrev": "ACOG, 2019"}], "xrefs": [{"db": "MeSH", "id": "D030342"}, {"db": "MedGen", "id": "C0950123"}]}], "id": 25797}, "date_created": "2018-04-15", "date_last_updated": "2023-01-07", "id": 1447196}, "record_status": "current", "title": "NM_001448.3(GPC4):c.1463A>G (p.Asp488Gly) AND Inborn genetic diseases", "clinvar_assertions": [{"id": 1445905, "submission_id": {"local_key": "a8660247", "submitter": "Ambry Genetics", "submitted_assembly": "GRCh37", "submitter_date": "2020-10-09"}, "clinvar_accession": {"acc": "SCV000742110", "version": 3, "type": "SCV", "date_updated": "2023-01-07", "date_created": "2018-04-15", "org_id": "61756", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["uncertain significance"], "date_last_evaluated": "2017-01-06"}], "external_ids": [{"db": "Ambry Genetics", "id": "a8660247"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Ambry exome assertion method (8-5-2015)"}, "citations": [{"url": "https://submit.ncbi.nlm.nih.gov/ft/byid/xlwdlsvu/ambry_exome_assertion_method_8-5-2015_.pdf"}]}], "observed_in": [{"sample": {"origin": "germline", "ethnicity": "Hispanic", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1, "gender": "male", "family_data": {"pedigree_id": "a997284"}, "proband": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autistic disorder of childhood onset"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Delayed gross motor development"}}], "xrefs": [{"db": "HP", "id": "HP:0002194"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Delayed fine motor development"}}], "xrefs": [{"db": "HP", "id": "HP:0010862"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Attention deficit hyperactivity disorder"}}], "xrefs": [{"db": "HP", "id": "HP:0007018"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Joint hypermobility"}}], "xrefs": [{"db": "HP", "id": "HP:0001382"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Plagiocephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0001357"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hypertelorism"}}], "xrefs": [{"db": "HP", "id": "HP:0000316"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Low anterior hairline"}}], "xrefs": [{"db": "HP", "id": "HP:0000294"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Low-set ears"}}], "xrefs": [{"db": "HP", "id": "HP:0000369"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Inversion of nipple"}}], "xrefs": [{"db": "HP", "id": "HP:0003186"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Clinodactyly"}}], "xrefs": [{"db": "HP", "id": "HP:0030084"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_001448.2:c.1463A>G"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "GPC4"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MeSH", "id": "D030342"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000622997", "version": 2, "type": "RCV", "date_updated": "2023-01-07", "date_created": "2018-04-15"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "pathogenic", "date_last_evaluated": "2016-02-15"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "ethnicity": "Caucasian", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000520969", "version": 3, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_006517.5(SLC16A2):c.383T>C (p.Leu128Pro)"}}], "canonical_spdi": "NC_000023.11:74422019:T:C", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_006517.5:c.383T>C"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_011641.1:g.5771T>C"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_011641.2:g.5771T>C"}, {"type": "HGVS, genomic, top level", "value": "NC_000023.11:g.74422020T>C", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000023.10:g.73641855T>C", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_006517.3:c.605T>C"}, {"type": "HGVS, protein, RefSeq", "value": "NP_006508.2:p.Leu128Pro"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_006517.5:c.383T>C"}]}, {"type": "ProteinChange1LetterCode", "value": "L128P"}], "cytogenic_locations": ["Xq13.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 74422020, "stop": 74422020, "display_start": 74422020, "display_stop": 74422020, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 74422020, "reference_allele_vcf": "T", "alternate_allele_vcf": "C"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 73641855, "stop": 73641855, "display_start": 73641855, "display_stop": 73641855, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 73641855, "reference_allele_vcf": "T", "alternate_allele_vcf": "C"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "solute carrier family 16 member 2"}}], "symbols": [{"value": {"type": "Preferred", "value": "SLC16A2"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 74421493, "stop": 74533916, "display_start": 74421493, "display_stop": 74533916, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 73641327, "stop": 73753763, "display_start": 73641327, "display_stop": 73753763, "strand": "+", "variant_length": 112437, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "6567"}, {"db": "OMIM", "id": "300095", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:10923"}]}], "xrefs": [{"db": "dbSNP", "id": "1555979604", "type": "rs"}], "id": 512753}], "names": [{"value": {"type": "Preferred", "value": "NM_006517.5(SLC16A2):c.383T>C (p.Leu128Pro)"}}], "xrefs": [{"db": "ClinGen", "id": "CA413656378"}], "id": 520969}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Inborn genetic diseases"}}], "citations": [{"ids": [{"source": "PubMed", "value": "22947299"}], "type": "practice guideline", "abbrev": "Langer et al., 2012"}, {"ids": [{"source": "PubMed", "value": "23037933"}], "type": "Recommendation", "abbrev": "SACHDNC, 2013"}, {"ids": [{"source": "PubMed", "value": "23169492"}], "type": "Position Statement", "abbrev": "EASAC/FEAM, 2013"}, {"ids": [{"source": "PubMed", "value": "25626707"}], "type": "Position Statement", "abbrev": "ESHG/P3G/HUGO/PHGF, 2015"}, {"ids": [{"source": "PubMed", "value": "24121147"}], "type": "general", "abbrev": "Alpha-1 Foundation, 2014"}, {"ids": [{"source": "PubMed", "value": "24394680"}], "type": "practice guideline", "abbrev": "NBSTRN, 2015"}, {"ids": [{"source": "PubMed", "value": "23652378"}], "type": "Position Statement", "abbrev": "EUNENBS, 2014"}, {"ids": [{"source": "PubMed", "value": "23881473"}], "type": "Position Statement", "abbrev": "NSGC, 2014"}, {"ids": [{"source": "PubMed", "value": "25730230"}], "type": "Position Statement", "abbrev": "ACMG/ACOG/NSGC/PQF/SMFM, 2015"}, {"ids": [{"source": "PubMed", "value": "24022298"}], "type": "practice guideline", "abbrev": "Skirton et al., 2014"}, {"ids": [{"source": "PubMed", "value": "23619275"}], "type": "Position Statement", "abbrev": "ACMG, 2013"}, {"ids": [{"source": "PubMed", "value": "31022120"}], "type": "Recommendation", "abbrev": "ACOG, 2019"}], "xrefs": [{"db": "MeSH", "id": "D030342"}, {"db": "MedGen", "id": "C0950123"}]}], "id": 25797}, "date_created": "2018-04-15", "date_last_updated": "2023-01-07", "id": 1447618}, "record_status": "current", "title": "NM_006517.5(SLC16A2):c.383T>C (p.Leu128Pro) AND Inborn genetic diseases", "clinvar_assertions": [{"id": 1445133, "submission_id": {"local_key": "a175822", "submitter": "Ambry Genetics", "submitted_assembly": "GRCh37", "submitter_date": "2020-10-09"}, "clinvar_accession": {"acc": "SCV000741341", "version": 3, "type": "SCV", "date_updated": "2023-01-07", "date_created": "2018-04-15", "org_id": "61756", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["pathogenic"], "date_last_evaluated": "2016-02-15"}], "external_ids": [{"db": "Ambry Genetics", "id": "a175822"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Ambry exome assertion method (8-5-2015)"}, "citations": [{"url": "https://submit.ncbi.nlm.nih.gov/ft/byid/xlwdlsvu/ambry_exome_assertion_method_8-5-2015_.pdf"}]}], "observed_in": [{"sample": {"origin": "germline", "ethnicity": "Caucasian", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1, "gender": "male", "family_data": {"pedigree_id": "a616134"}, "proband": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Cerebral palsy"}}], "xrefs": [{"db": "HP", "id": "HP:0100021"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Failure to thrive"}}], "xrefs": [{"db": "HP", "id": "HP:0001508"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Movement disorder"}}], "xrefs": [{"db": "HP", "id": "HP:0100022"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Spasticity"}}], "xrefs": [{"db": "HP", "id": "HP:0001257"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Muscular hypotonia of the trunk"}}], "xrefs": [{"db": "HP", "id": "HP:0008936"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Poor head control"}}], "xrefs": [{"db": "HP", "id": "HP:0002421"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Drooling"}}], "xrefs": [{"db": "HP", "id": "HP:0002307"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Clonus"}}], "xrefs": [{"db": "HP", "id": "HP:0002169"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Gastroesophageal reflux"}}], "xrefs": [{"db": "HP", "id": "HP:0002020"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Vomiting"}}], "xrefs": [{"db": "HP", "id": "HP:0002013"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Short lingual frenulum"}}], "xrefs": [{"db": "HP", "id": "HP:0000200"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Inversion of nipple"}}], "xrefs": [{"db": "HP", "id": "HP:0003186"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Delayed myelination"}}], "xrefs": [{"db": "HP", "id": "HP:0012448"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Increased serum lactate"}}], "xrefs": [{"db": "HP", "id": "HP:0002151"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hypoplasia of the corpus callosum"}}], "xrefs": [{"db": "HP", "id": "HP:0002079"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Cerebral white matter hypoplasia"}}], "xrefs": [{"db": "HP", "id": "HP:0012430"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the periventricular white matter"}}], "xrefs": [{"db": "HP", "id": "HP:0002518"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Organic aciduria"}}], "xrefs": [{"db": "HP", "id": "HP:0001992"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_006517.3:c.605T>C"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "SLC16A2"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MeSH", "id": "D030342"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000622654", "version": 2, "type": "RCV", "date_updated": "2023-01-07", "date_created": "2018-04-15"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "uncertain significance", "date_last_evaluated": "2016-10-24"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "ethnicity": "Caucasian", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000521353", "version": 3, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_007118.4(TRIO):c.7334C>T (p.Pro2445Leu)"}}], "canonical_spdi": "NC_000005.10:14487961:C:T", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_007118.4:c.7334C>T"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_052962.1:g.349261C>T"}, {"type": "HGVS, genomic, top level", "value": "NC_000005.10:g.14487962C>T", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000005.9:g.14488071C>T", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_007118.2:c.7334C>T"}, {"type": "HGVS, protein, RefSeq", "value": "NP_009049.2:p.Pro2445Leu"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_007118.4:c.7334C>T"}]}, {"type": "ProteinChange1LetterCode", "value": "P2445L"}], "cytogenic_locations": ["5p15.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "start": 14487962, "stop": 14487962, "display_start": 14487962, "display_stop": 14487962, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 14487962, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "start": 14488071, "stop": 14488071, "display_start": 14488071, "display_stop": 14488071, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 14488071, "reference_allele_vcf": "C", "alternate_allele_vcf": "T"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "trio Rho guanine nucleotide exchange factor"}}], "symbols": [{"value": {"type": "Preferred", "value": "TRIO"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "start": 14143342, "stop": 14510204, "display_start": 14143342, "display_stop": 14510204, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "start": 14143828, "stop": 14509457, "display_start": 14143828, "display_stop": 14509457, "strand": "+", "variant_length": 365630, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "7204"}, {"db": "OMIM", "id": "601893", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:12303"}]}], "xrefs": [{"db": "dbSNP", "id": "1300607085", "type": "rs"}], "id": 511574}], "names": [{"value": {"type": "Preferred", "value": "NM_007118.4(TRIO):c.7334C>T (p.Pro2445Leu)"}}], "xrefs": [{"db": "ClinGen", "id": "CA359237271"}], "id": 521353}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Inborn genetic diseases"}}], "citations": [{"ids": [{"source": "PubMed", "value": "22947299"}], "type": "practice guideline", "abbrev": "Langer et al., 2012"}, {"ids": [{"source": "PubMed", "value": "23037933"}], "type": "Recommendation", "abbrev": "SACHDNC, 2013"}, {"ids": [{"source": "PubMed", "value": "23169492"}], "type": "Position Statement", "abbrev": "EASAC/FEAM, 2013"}, {"ids": [{"source": "PubMed", "value": "25626707"}], "type": "Position Statement", "abbrev": "ESHG/P3G/HUGO/PHGF, 2015"}, {"ids": [{"source": "PubMed", "value": "24121147"}], "type": "general", "abbrev": "Alpha-1 Foundation, 2014"}, {"ids": [{"source": "PubMed", "value": "24394680"}], "type": "practice guideline", "abbrev": "NBSTRN, 2015"}, {"ids": [{"source": "PubMed", "value": "23652378"}], "type": "Position Statement", "abbrev": "EUNENBS, 2014"}, {"ids": [{"source": "PubMed", "value": "23881473"}], "type": "Position Statement", "abbrev": "NSGC, 2014"}, {"ids": [{"source": "PubMed", "value": "25730230"}], "type": "Position Statement", "abbrev": "ACMG/ACOG/NSGC/PQF/SMFM, 2015"}, {"ids": [{"source": "PubMed", "value": "24022298"}], "type": "practice guideline", "abbrev": "Skirton et al., 2014"}, {"ids": [{"source": "PubMed", "value": "23619275"}], "type": "Position Statement", "abbrev": "ACMG, 2013"}, {"ids": [{"source": "PubMed", "value": "31022120"}], "type": "Recommendation", "abbrev": "ACOG, 2019"}], "xrefs": [{"db": "MeSH", "id": "D030342"}, {"db": "MedGen", "id": "C0950123"}]}], "id": 25797}, "date_created": "2018-04-15", "date_last_updated": "2023-01-07", "id": 1447275}, "record_status": "current", "title": "NM_007118.4(TRIO):c.7334C>T (p.Pro2445Leu) AND Inborn genetic diseases", "clinvar_assertions": [{"id": 1445682, "submission_id": {"local_key": "a8892281", "submitter": "Ambry Genetics", "submitted_assembly": "GRCh37", "submitter_date": "2020-10-09"}, "clinvar_accession": {"acc": "SCV000741888", "version": 3, "type": "SCV", "date_updated": "2023-01-07", "date_created": "2018-04-15", "org_id": "61756", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["uncertain significance"], "date_last_evaluated": "2016-10-24"}], "external_ids": [{"db": "Ambry Genetics", "id": "a8892281"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Ambry exome assertion method (8-5-2015)"}, "citations": [{"url": "https://submit.ncbi.nlm.nih.gov/ft/byid/xlwdlsvu/ambry_exome_assertion_method_8-5-2015_.pdf"}]}], "observed_in": [{"sample": {"origin": "germline", "ethnicity": "Caucasian", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1, "gender": "male", "family_data": {"pedigree_id": "a970735"}, "proband": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Intellectual disability"}}], "xrefs": [{"db": "HP", "id": "HP:0001249"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Seizures"}}], "xrefs": [{"db": "HP", "id": "HP:0001250"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Autistic disorder of childhood onset"}}], "xrefs": [{"db": "HP", "id": "HP:0000717"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Macrocephaly at birth"}}], "xrefs": [{"db": "HP", "id": "HP:0004488"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Infantile muscular hypotonia"}}], "xrefs": [{"db": "HP", "id": "HP:0008947"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Neonatal hypoglycemia"}}], "xrefs": [{"db": "HP", "id": "HP:0001998"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Tremor"}}], "xrefs": [{"db": "HP", "id": "HP:0001337"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Behavioral abnormality"}}], "xrefs": [{"db": "HP", "id": "HP:0000708"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Visual impairment"}}], "xrefs": [{"db": "HP", "id": "HP:0000505"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Seasonal allergy"}}], "xrefs": [{"db": "HP", "id": "HP:0012395"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Chronic constipation"}}], "xrefs": [{"db": "HP", "id": "HP:0012450"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Broad-based gait"}}], "xrefs": [{"db": "HP", "id": "HP:0002136"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Short stature"}}], "xrefs": [{"db": "HP", "id": "HP:0004322"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Synophrys"}}], "xrefs": [{"db": "HP", "id": "HP:0000664"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Microtia"}}], "xrefs": [{"db": "HP", "id": "HP:0008551"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Thickened helices"}}], "xrefs": [{"db": "HP", "id": "HP:0000391"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Low hanging columella"}}], "xrefs": [{"db": "HP", "id": "HP:0009765"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Microdontia"}}], "xrefs": [{"db": "HP", "id": "HP:0000691"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Proximal placement of thumb"}}], "xrefs": [{"db": "HP", "id": "HP:0009623"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Brachydactyly"}}], "xrefs": [{"db": "HP", "id": "HP:0001156"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Poor eye contact"}}], "xrefs": [{"db": "HP", "id": "HP:0000817"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Short foot"}}], "xrefs": [{"db": "HP", "id": "HP:0001773"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Relative macrocephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0004482"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Brachycephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0000248"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormal number of hair whorls"}}], "xrefs": [{"db": "HP", "id": "HP:0010813"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Upslanted palpebral fissure"}}], "xrefs": [{"db": "HP", "id": "HP:0000582"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Low-set ears"}}], "xrefs": [{"db": "HP", "id": "HP:0000369"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hand tremor"}}], "xrefs": [{"db": "HP", "id": "HP:0002378"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Muscular hypotonia"}}], "xrefs": [{"db": "HP", "id": "HP:0001252"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Overfolding of the superior helices"}}], "xrefs": [{"db": "HP", "id": "HP:0004453"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Narrow nasal bridge"}}], "xrefs": [{"db": "HP", "id": "HP:0000446"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Broad philtrum"}}], "xrefs": [{"db": "HP", "id": "HP:0000289"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Microglossia"}}], "xrefs": [{"db": "HP", "id": "HP:0000171"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Down-sloping shoulders"}}], "xrefs": [{"db": "HP", "id": "HP:0200021"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Pes planus"}}], "xrefs": [{"db": "HP", "id": "HP:0001763"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hyperreflexia"}}], "xrefs": [{"db": "HP", "id": "HP:0001347"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Inversion of nipple"}}], "xrefs": [{"db": "HP", "id": "HP:0003186"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormality of the columella"}}], "xrefs": [{"db": "HP", "id": "HP:0009929"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Tongue tie"}}], "xrefs": [{"db": "HP", "id": "HP:0010296"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_007118.2:c.7334C>T"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "TRIO"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MeSH", "id": "D030342"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000623819", "version": 2, "type": "RCV", "date_updated": "2023-01-07", "date_created": "2018-04-15"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "uncertain significance", "date_last_evaluated": "2016-12-02"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "ethnicity": "Asian", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000521388", "version": 4, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val)"}}], "canonical_spdi": "NC_000001.11:215743187:G:A", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_206933.4:c.11537C>T"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_009497.1:g.685209C>T"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_009497.2:g.685261C>T"}, {"type": "HGVS, genomic, top level", "value": "NC_000001.11:g.215743188G>A", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000001.10:g.215916530G>A", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_206933.2:c.11537C>T"}, {"type": "HGVS, protein, RefSeq", "value": "NP_996816.3:p.Ala3846Val"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_206933.4:c.11537C>T"}]}, {"type": "ProteinChange1LetterCode", "value": "A3846V"}], "cytogenic_locations": ["1q41"], "sequence_locations": [{"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "start": 215743188, "stop": 215743188, "display_start": 215743188, "display_stop": 215743188, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 215743188, "reference_allele_vcf": "G", "alternate_allele_vcf": "A"}, {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "start": 215916530, "stop": 215916530, "display_start": 215916530, "display_stop": 215916530, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 215916530, "reference_allele_vcf": "G", "alternate_allele_vcf": "A"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "usherin"}}], "symbols": [{"value": {"type": "Preferred", "value": "USH2A"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "start": 215622891, "stop": 216423448, "display_start": 215622891, "display_stop": 216423448, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "start": 215796235, "stop": 216596737, "display_start": 215796235, "display_stop": 216596737, "strand": "-", "variant_length": 800503, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "7399"}, {"db": "OMIM", "id": "608400", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:12601"}]}], "xrefs": [{"db": "dbSNP", "id": "1553257673", "type": "rs"}], "id": 511222}], "names": [{"value": {"type": "Preferred", "value": "NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val)"}}, {"value": {"type": "Preferred", "value": "NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val)"}}], "attributes": [{"type": "SubmitterVariantId", "value": "ALLELE_12105"}], "xrefs": [{"db": "ClinGen", "id": "CA344834550"}], "id": 521388}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Inborn genetic diseases"}}], "citations": [{"ids": [{"source": "PubMed", "value": "22947299"}], "type": "practice guideline", "abbrev": "Langer et al., 2012"}, {"ids": [{"source": "PubMed", "value": "23037933"}], "type": "Recommendation", "abbrev": "SACHDNC, 2013"}, {"ids": [{"source": "PubMed", "value": "23169492"}], "type": "Position Statement", "abbrev": "EASAC/FEAM, 2013"}, {"ids": [{"source": "PubMed", "value": "25626707"}], "type": "Position Statement", "abbrev": "ESHG/P3G/HUGO/PHGF, 2015"}, {"ids": [{"source": "PubMed", "value": "24121147"}], "type": "general", "abbrev": "Alpha-1 Foundation, 2014"}, {"ids": [{"source": "PubMed", "value": "24394680"}], "type": "practice guideline", "abbrev": "NBSTRN, 2015"}, {"ids": [{"source": "PubMed", "value": "23652378"}], "type": "Position Statement", "abbrev": "EUNENBS, 2014"}, {"ids": [{"source": "PubMed", "value": "23881473"}], "type": "Position Statement", "abbrev": "NSGC, 2014"}, {"ids": [{"source": "PubMed", "value": "25730230"}], "type": "Position Statement", "abbrev": "ACMG/ACOG/NSGC/PQF/SMFM, 2015"}, {"ids": [{"source": "PubMed", "value": "24022298"}], "type": "practice guideline", "abbrev": "Skirton et al., 2014"}, {"ids": [{"source": "PubMed", "value": "23619275"}], "type": "Position Statement", "abbrev": "ACMG, 2013"}, {"ids": [{"source": "PubMed", "value": "31022120"}], "type": "Recommendation", "abbrev": "ACOG, 2019"}], "xrefs": [{"db": "MeSH", "id": "D030342"}, {"db": "MedGen", "id": "C0950123"}]}], "id": 25797}, "date_created": "2018-04-15", "date_last_updated": "2023-01-07", "id": 1448440}, "record_status": "current", "title": "NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val) AND Inborn genetic diseases", "clinvar_assertions": [{"id": 1445746, "submission_id": {"local_key": "a8870555", "submitter": "Ambry Genetics", "submitted_assembly": "GRCh37", "submitter_date": "2020-10-09"}, "clinvar_accession": {"acc": "SCV000741952", "version": 3, "type": "SCV", "date_updated": "2023-01-07", "date_created": "2018-04-15", "org_id": "61756", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["uncertain significance"], "citations": [{"ids": [{"source": "PubMed", "value": "24944099"}]}], "date_last_evaluated": "2016-12-02"}], "external_ids": [{"db": "Ambry Genetics", "id": "a8870555"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Ambry exome assertion method (8-5-2015)"}, "citations": [{"url": "https://submit.ncbi.nlm.nih.gov/ft/byid/xlwdlsvu/ambry_exome_assertion_method_8-5-2015_.pdf"}]}], "observed_in": [{"sample": {"origin": "germline", "ethnicity": "Asian", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1, "gender": "male", "family_data": {"pedigree_id": "a927069"}, "proband": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Developmental regression"}}], "xrefs": [{"db": "HP", "id": "HP:0002376"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Complex febrile seizures"}}], "xrefs": [{"db": "HP", "id": "HP:0011172"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Sensorineural hearing loss"}}], "xrefs": [{"db": "HP", "id": "HP:0000407"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Sleep disturbance"}}], "xrefs": [{"db": "HP", "id": "HP:0002360"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Stereotypy"}}], "xrefs": [{"db": "HP", "id": "HP:0000733"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Recurrent hand flapping"}}], "xrefs": [{"db": "HP", "id": "HP:0100023"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Head-banging"}}], "xrefs": [{"db": "HP", "id": "HP:0012168"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Anxiety"}}], "xrefs": [{"db": "HP", "id": "HP:0000739"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Plagiocephaly"}}], "xrefs": [{"db": "HP", "id": "HP:0001357"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Inversion of nipple"}}], "xrefs": [{"db": "HP", "id": "HP:0003186"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Tall stature"}}], "xrefs": [{"db": "HP", "id": "HP:0000098"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_206933.2:c.11537C>T"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "USH2A"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MeSH", "id": "D030342"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000623933", "version": 2, "type": "RCV", "date_updated": "2023-01-07", "date_created": "2018-04-15"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "pathogenic", "date_last_evaluated": "2016-04-25"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "ethnicity": "Asian", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000521025", "version": 3, "measures": [{"type": "deletion", "names": [{"value": {"type": "Preferred", "value": "NM_002074.5(GNB1):c.1011_1013del (p.Lys337_Ile338delinsAsn)"}}], "canonical_spdi": "NC_000001.11:1787340:ATC:", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001282539.2:c.1011_1013del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_002074.5:c.1011_1013del"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001282538.2:c.711_713del"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_047052.1:g.108775_108777del"}, {"type": "HGVS, genomic, top level", "value": "NC_000001.11:g.1787341_1787343del", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000001.10:g.1718780_1718782del", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_002074.3:c.1011_1013delGAT"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001269467.1:p.Lys237_Ile238delinsAsn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001269468.1:p.Lys337_Ile338delinsAsn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_002065.1:p.Lys337_Ile338delinsAsn"}, {"type": "MolecularConsequence", "value": "inframe_indel", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001820"}, {"db": "RefSeq", "id": "NM_001282538.2:c.711_713del"}]}, {"type": "MolecularConsequence", "value": "inframe_indel", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001820"}, {"db": "RefSeq", "id": "NM_001282539.2:c.1011_1013del"}]}, {"type": "MolecularConsequence", "value": "inframe_indel", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001820"}, {"db": "RefSeq", "id": "NM_002074.5:c.1011_1013del"}]}], "cytogenic_locations": ["1p36.33"], "sequence_locations": [{"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "start": 1787341, "stop": 1787343, "display_start": 1787341, "display_stop": 1787343, "variant_length": 3, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 1787340, "reference_allele_vcf": "GATC", "alternate_allele_vcf": "G"}, {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "start": 1718780, "stop": 1718782, "display_start": 1718780, "display_stop": 1718782, "variant_length": 3, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 1718779, "reference_allele_vcf": "GATC", "alternate_allele_vcf": "G"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "G protein subunit beta 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "GNB1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "1", "accession": "NC_000001.11", "start": 1785286, "stop": 1891087, "display_start": 1785286, "display_stop": 1891087, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "1", "accession": "NC_000001.10", "start": 1716724, "stop": 1822525, "display_start": 1716724, "display_stop": 1822525, "strand": "-", "variant_length": 105802, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "2782"}, {"db": "OMIM", "id": "139380", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:4396"}]}], "xrefs": [{"db": "dbSNP", "id": "1553191393", "type": "rs"}], "id": 511192}], "names": [{"value": {"type": "Preferred", "value": "NM_002074.5(GNB1):c.1011_1013del (p.Lys337_Ile338delinsAsn)"}}], "xrefs": [{"db": "ClinGen", "id": "CA658795367"}], "id": 521025}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Inborn genetic diseases"}}], "citations": [{"ids": [{"source": "PubMed", "value": "22947299"}], "type": "practice guideline", "abbrev": "Langer et al., 2012"}, {"ids": [{"source": "PubMed", "value": "23037933"}], "type": "Recommendation", "abbrev": "SACHDNC, 2013"}, {"ids": [{"source": "PubMed", "value": "23169492"}], "type": "Position Statement", "abbrev": "EASAC/FEAM, 2013"}, {"ids": [{"source": "PubMed", "value": "25626707"}], "type": "Position Statement", "abbrev": "ESHG/P3G/HUGO/PHGF, 2015"}, {"ids": [{"source": "PubMed", "value": "24121147"}], "type": "general", "abbrev": "Alpha-1 Foundation, 2014"}, {"ids": [{"source": "PubMed", "value": "24394680"}], "type": "practice guideline", "abbrev": "NBSTRN, 2015"}, {"ids": [{"source": "PubMed", "value": "23652378"}], "type": "Position Statement", "abbrev": "EUNENBS, 2014"}, {"ids": [{"source": "PubMed", "value": "23881473"}], "type": "Position Statement", "abbrev": "NSGC, 2014"}, {"ids": [{"source": "PubMed", "value": "25730230"}], "type": "Position Statement", "abbrev": "ACMG/ACOG/NSGC/PQF/SMFM, 2015"}, {"ids": [{"source": "PubMed", "value": "24022298"}], "type": "practice guideline", "abbrev": "Skirton et al., 2014"}, {"ids": [{"source": "PubMed", "value": "23619275"}], "type": "Position Statement", "abbrev": "ACMG, 2013"}, {"ids": [{"source": "PubMed", "value": "31022120"}], "type": "Recommendation", "abbrev": "ACOG, 2019"}], "xrefs": [{"db": "MeSH", "id": "D030342"}, {"db": "MedGen", "id": "C0950123"}]}], "id": 25797}, "date_created": "2018-04-15", "date_last_updated": "2023-01-07", "id": 1448554}, "record_status": "current", "title": "NM_002074.5(GNB1):c.1011_1013del (p.Lys337_Ile338delinsAsn) AND Inborn genetic diseases", "clinvar_assertions": [{"id": 1445217, "submission_id": {"local_key": "a407605", "submitter": "Ambry Genetics", "submitted_assembly": "GRCh37", "submitter_date": "2020-10-09"}, "clinvar_accession": {"acc": "SCV000741425", "version": 3, "type": "SCV", "date_updated": "2023-01-07", "date_created": "2018-04-15", "org_id": "61756", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["pathogenic"], "date_last_evaluated": "2016-04-25"}], "external_ids": [{"db": "Ambry Genetics", "id": "a407605"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Ambry exome assertion method (8-5-2015)"}, "citations": [{"url": "https://submit.ncbi.nlm.nih.gov/ft/byid/xlwdlsvu/ambry_exome_assertion_method_8-5-2015_.pdf"}]}], "observed_in": [{"sample": {"origin": "germline", "ethnicity": "Asian", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1, "gender": "male", "family_data": {"pedigree_id": "a635646"}, "proband": "yes"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}], "traits": {"type": "Finding", "traits": [{"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Intellectual disability"}}], "xrefs": [{"db": "HP", "id": "HP:0001249"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay"}}], "xrefs": [{"db": "HP", "id": "HP:0001263"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Muscular hypotonia"}}], "xrefs": [{"db": "HP", "id": "HP:0001252"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Attention deficit hyperactivity disorder"}}], "xrefs": [{"db": "HP", "id": "HP:0007018"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Overgrowth"}}], "xrefs": [{"db": "HP", "id": "HP:0001548"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "High, narrow palate"}}], "xrefs": [{"db": "HP", "id": "HP:0002705"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Inversion of nipple"}}], "xrefs": [{"db": "HP", "id": "HP:0003186"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Pes planus"}}], "xrefs": [{"db": "HP", "id": "HP:0001763"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Seizures"}}], "xrefs": [{"db": "HP", "id": "HP:0001250"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Eczema"}}], "xrefs": [{"db": "HP", "id": "HP:0000964"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Allergy"}}], "xrefs": [{"db": "HP", "id": "HP:0012393"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Hypoplastic male external genitalia"}}], "xrefs": [{"db": "HP", "id": "HP:0000050"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Behavioral abnormality"}}], "xrefs": [{"db": "HP", "id": "HP:0000708"}]}]}}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_002074.3:c.1011_1013delGAT"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "GNB1"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MeSH", "id": "D030342"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000008252", "version": 3, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2008-01-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In affected members of 2 white families with primary localized cutaneous amyloidosis (105250), Arita et al. (2008) found an 1853G-C transversion in the OSMR gene that resulted in a gly618-to-ala substitution (G618A). Microsatellite analysis around the OSMR gene indicated that the 2 families probably shared a common British ancestry."}, "citations": [{"ids": [{"source": "PubMed", "value": "18179886"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000007809", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_003999.3(OSMR):c.1853G>C (p.Gly618Ala)"}}], "canonical_spdi": "NC_000005.10:38923236:G:C", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001323505.2:c.1853G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_003999.3:c.1853G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001323506.2:c.1856G>C"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_016236.1:g.82380G>C"}, {"type": "HGVS, genomic, top level", "value": "NC_000005.10:g.38923237G>C", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000005.9:g.38923339G>C", "integer_value": 37}, {"type": "HGVS, protein", "value": "Q99650:p.Gly618Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001310434.1:p.Gly618Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_003990.1:p.Gly618Ala"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001310435.1:p.Gly619Ala"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001323505.2:c.1853G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001323506.2:c.1856G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_003999.3:c.1853G>C"}]}, {"type": "ProteinChange1LetterCode", "value": "G618A"}, {"type": "ProteinChange1LetterCode", "value": "G619A"}, {"type": "ProteinChange3LetterCode", "value": "GLY618ALA"}], "cytogenic_locations": ["5p13.1"], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "start": 38923237, "stop": 38923237, "display_start": 38923237, "display_stop": 38923237, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 38923237, "reference_allele_vcf": "G", "alternate_allele_vcf": "C"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "start": 38923339, "stop": 38923339, "display_start": 38923339, "display_stop": 38923339, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 38923339, "reference_allele_vcf": "G", "alternate_allele_vcf": "C"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "oncostatin M receptor"}}], "symbols": [{"value": {"type": "Preferred", "value": "OSMR"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "5", "accession": "NC_000005.10", "start": 38846012, "stop": 38945579, "display_start": 38846012, "display_stop": 38945579, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "5", "accession": "NC_000005.9", "start": 38845959, "stop": 38935742, "display_start": 38845959, "display_stop": 38935742, "strand": "+", "variant_length": 89784, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "9180"}, {"db": "OMIM", "id": "601743", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:8507"}]}], "xrefs": [{"db": "UniProtKB", "id": "Q99650#VAR_043513"}, {"db": "OMIM", "id": "601743.0002", "type": "Allelic variant"}, {"db": "dbSNP", "id": "63750560", "type": "rs"}], "id": 22848}], "names": [{"value": {"type": "Preferred", "value": "NM_003999.3(OSMR):c.1853G>C (p.Gly618Ala)"}}], "xrefs": [{"db": "ClinGen", "id": "CA119094"}], "id": 7809}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Amyloidosis, primary localized cutaneous, 1"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0024522"}]}, {"value": {"type": "Alternate", "value": "Lichen amyloidosis familial"}}, {"value": {"type": "Alternate", "value": "Amyloidosis 9"}}, {"value": {"type": "Alternate", "value": "Amyloidosis IX"}}, {"value": {"type": "Alternate", "value": "AMYLOIDOSIS, PRIMARY CUTANEOUS, 1"}, "xrefs": [{"db": "OMIM", "id": "105250", "type": "MIM"}]}], "symbols": [{"value": {"type": "Alternate", "value": "PCA1"}, "xrefs": [{"db": "OMIM", "id": "105250", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "PLCA1"}, "xrefs": [{"db": "OMIM", "id": "105250", "type": "MIM"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0024522"}, {"db": "MedGen", "id": "C4551501"}, {"db": "Orphanet", "id": "353220"}, {"db": "OMIM", "id": "105250", "type": "MIM"}]}], "id": 2117}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 65755}, "record_status": "current", "title": "NM_003999.3(OSMR):c.1853G>C (p.Gly618Ala) AND Amyloidosis, primary localized cutaneous, 1", "clinvar_assertions": [{"id": 28459, "submission_id": {"local_key": "601743.0002_AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1", "submitter": "OMIM", "title": "OSMR, GLY618ALA_AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1", "submitter_date": "2017-03-07"}, "clinvar_accession": {"acc": "SCV000028459", "version": 2, "type": "SCV", "date_updated": "2017-03-10", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2008-01-01"}], "external_ids": [{"db": "OMIM", "id": "601743.0002", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In affected members of 2 white families with primary localized cutaneous amyloidosis (105250), Arita et al. (2008) found an 1853G-C transversion in the OSMR gene that resulted in a gly618-to-ala substitution (G618A). Microsatellite analysis around the OSMR gene indicated that the 2 families probably shared a common British ancestry."}, "citations": [{"ids": [{"source": "PubMed", "value": "18179886"}]}], "xrefs": [{"db": "OMIM", "id": "105250", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "OSMR, GLY618ALA"}}], "attributes": [{"type": "NonHGVS", "value": "GLY618ALA"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "OSMR"}}]}], "xrefs": [{"db": "OMIM", "id": "601743.0002", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000022887", "version": 4, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2011-12-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 34 individuals with Leri-Weill dyschondrosteosis (127300) and 4 with Langer mesomelic dysplasia (249700) from 12 Spanish multiplex families, 2 of which had previously been studied (Sabherwal et al., 2004, 2004), Barca-Tierno et al. (2011) identified heterozygosity or homozygosity, respectively, for a 508G-C transversion in the SHOX gene, resulting in an ala170-to-pro (A170P) substitution. Microsatellite analysis revealed a shared haplotype around SHOX, confirming the presence of a common ancestor, probably of Gypsy origin, as 11 of the 12 families were of that ethnic group. The mutation was not found in 359 Eastern European Gypsies. Transient transfection studies in U2OS cells demonstrated that the A170P mutant protein failed to localize to the nucleus. Expression of mutant SHOX in the human growth plate of a 22-week-old fetus homozygous for A170P was compared to that of a 23-week-old normal fetal growth plate: SHOX was observed in the resting, proliferative, and hypertrophic zones of both the control and the LMD growth plate. However, chondrocytes were enlarged and in pairs in the reserve zone of the LMD growth plate, and their columnar stacking in the proliferative zone was disorganized, with the chondrocytes appearing in less-defined columns and in smaller clusters."}, "citations": [{"ids": [{"source": "PubMed", "value": "21712857"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000029994", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_000451.4(SHOX):c.508G>C (p.Ala170Pro)"}}], "canonical_spdi": "NC_000024.10:640841:G:C", "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_710t1:c.508G>C"}, {"type": "HGVS, coding, LRG", "value": "LRG_710t2:c.508G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_000451.4:c.508G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_006883.2:c.508G>C"}, {"type": "HGVS, genomic, LRG", "value": "LRG_710:g.21499G>C"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_009385.2:g.21499G>C"}, {"type": "HGVS, genomic, top level", "value": "NC_000023.11:g.640842G>C", "integer_value": 38}, {"type": "HGVS, genomic, top level", "value": "NC_000024.10:g.640842G>C", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000024.9:g.551577G>C", "integer_value": 37}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000023.10:g.601577G>C", "integer_value": 37}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "LRG_710p1:p.Ala170Pro"}, {"type": "HGVS, protein", "value": "LRG_710p2:p.Ala170Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000442.1:p.Ala170Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_006874.1:p.Ala170Pro"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_000451.4:c.508G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_006883.2:c.508G>C"}]}, {"type": "ProteinChange1LetterCode", "value": "A170P"}, {"type": "ProteinChange3LetterCode", "value": "ALA170PRO"}], "cytogenic_locations": ["Xp22.33", "Yp11.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 640842, "stop": 640842, "display_start": 640842, "display_stop": 640842, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 640842, "reference_allele_vcf": "G", "alternate_allele_vcf": "C"}, {"assembly": "GRCh38", "chr": "Y", "accession": "NC_000024.10", "start": 640842, "stop": 640842, "display_start": 640842, "display_stop": 640842, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 640842, "reference_allele_vcf": "G", "alternate_allele_vcf": "C"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 601577, "stop": 601577, "display_start": 601577, "display_stop": 601577, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 601577, "reference_allele_vcf": "G", "alternate_allele_vcf": "C"}, {"assembly": "GRCh37", "chr": "Y", "accession": "NC_000024.9", "start": 551577, "stop": 551577, "display_start": 551577, "display_stop": 551577, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 551577, "reference_allele_vcf": "G", "alternate_allele_vcf": "C"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "short stature homeobox"}}], "symbols": [{"value": {"type": "Preferred", "value": "SHOX"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 624344, "stop": 659411, "display_start": 624344, "display_stop": 659411, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "Y", "accession": "NC_000024.10", "start": 624344, "stop": 659411, "display_start": 624344, "display_stop": 659411, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "6473"}, {"db": "OMIM", "id": "312865", "type": "MIM"}, {"db": "OMIM", "id": "400020", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:10853"}]}], "xrefs": [{"db": "OMIM", "id": "312865.0014", "type": "Allelic variant"}, {"db": "dbSNP", "id": "397514461", "type": "rs"}], "id": 38949}], "names": [{"value": {"type": "Preferred", "value": "NM_000451.4(SHOX):c.508G>C (p.Ala170Pro)"}}, {"value": {"type": "Preferred", "value": "NM_000451.4(SHOX):c.508G>C (p.Ala170Pro)"}}], "xrefs": [{"db": "ClinGen", "id": "CA128821"}], "id": 29994}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Leri-Weill dyschondrosteosis"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0007481"}]}, {"value": {"type": "Alternate", "value": "Dyschondrosteosis"}}, {"value": {"type": "Alternate", "value": "L\u00e9ri-Weill dyschondrosteosis"}}], "symbols": [{"value": {"type": "Preferred", "value": "LWD"}, "xrefs": [{"db": "OMIM", "id": "127300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "DCO"}, "xrefs": [{"db": "OMIM", "id": "127300", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX), ranges from Leri-Weill dyschondrosteosis (LWD) at the severe end of the spectrum to nonspecific short stature at the mild end of the spectrum. In adults with SHOX deficiency, the proportion of LWD versus short stature without features of LWD is not well defined. In LWD the classic clinical triad is short stature, mesomelia, and Madelung deformity. Mesomelia, in which the middle portion of a limb is shortened in relation to the proximal portion, can be evident first in school-aged children and increases with age in frequency and severity. Madelung deformity (abnormal alignment of the radius, ulna, and carpal bones at the wrist) typically develops in mid-to-late childhood and is more common and severe in females. The phenotype of short stature caused by SHOX deficiency in the absence of mesomelia and Madelung deformity (called SHOX-deficient short stature in this GeneReview) is highly variable, even within the same family."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1215"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "3224"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301394"}, {"source": "BookShelf", "value": "NBK1215"}], "type": "review", "abbrev": "GeneReviews"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0007481"}, {"db": "MedGen", "id": "C0265309"}, {"db": "OMIM", "id": "127300", "type": "MIM"}]}], "id": 2777}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 80390}, "record_status": "current", "title": "NM_000451.4(SHOX):c.508G>C (p.Ala170Pro) AND Leri-Weill dyschondrosteosis", "clinvar_assertions": [{"id": 49434, "submission_id": {"local_key": "312865.0014_LERI-WEILL DYSCHONDROSTEOSIS", "submitter": "OMIM", "title": "SHOX, ALA170PRO_LERI-WEILL DYSCHONDROSTEOSIS", "submitter_date": "2018-11-07"}, "clinvar_accession": {"acc": "SCV000044178", "version": 3, "type": "SCV", "date_updated": "2018-11-09", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2011-12-01"}], "external_ids": [{"db": "OMIM", "id": "312865.0014", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 34 individuals with Leri-Weill dyschondrosteosis (127300) and 4 with Langer mesomelic dysplasia (249700) from 12 Spanish multiplex families, 2 of which had previously been studied (Sabherwal et al., 2004, 2004), Barca-Tierno et al. (2011) identified heterozygosity or homozygosity, respectively, for a 508G-C transversion in the SHOX gene, resulting in an ala170-to-pro (A170P) substitution. Microsatellite analysis revealed a shared haplotype around SHOX, confirming the presence of a common ancestor, probably of Gypsy origin, as 11 of the 12 families were of that ethnic group. The mutation was not found in 359 Eastern European Gypsies. Transient transfection studies in U2OS cells demonstrated that the A170P mutant protein failed to localize to the nucleus. Expression of mutant SHOX in the human growth plate of a 22-week-old fetus homozygous for A170P was compared to that of a 23-week-old normal fetal growth plate: SHOX was observed in the resting, proliferative, and hypertrophic zones of both the control and the LMD growth plate. However, chondrocytes were enlarged and in pairs in the reserve zone of the LMD growth plate, and their columnar stacking in the proliferative zone was disorganized, with the chondrocytes appearing in less-defined columns and in smaller clusters."}, "citations": [{"ids": [{"source": "PubMed", "value": "21712857"}]}], "xrefs": [{"db": "OMIM", "id": "127300", "type": "MIM"}, {"db": "OMIM", "id": "249700", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "SHOX, ALA170PRO"}}], "attributes": [{"type": "NonHGVS", "value": "ALA170PRO"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "SHOX"}}]}], "xrefs": [{"db": "OMIM", "id": "312865.0014", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "LERI-WEILL DYSCHONDROSTEOSIS"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000022888", "version": 4, "type": "RCV", "date_updated": "2022-04-23", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2011-12-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 34 individuals with Leri-Weill dyschondrosteosis (127300) and 4 with Langer mesomelic dysplasia (249700) from 12 Spanish multiplex families, 2 of which had previously been studied (Sabherwal et al., 2004, 2004), Barca-Tierno et al. (2011) identified heterozygosity or homozygosity, respectively, for a 508G-C transversion in the SHOX gene, resulting in an ala170-to-pro (A170P) substitution. Microsatellite analysis revealed a shared haplotype around SHOX, confirming the presence of a common ancestor, probably of Gypsy origin, as 11 of the 12 families were of that ethnic group. The mutation was not found in 359 Eastern European Gypsies. Transient transfection studies in U2OS cells demonstrated that the A170P mutant protein failed to localize to the nucleus. Expression of mutant SHOX in the human growth plate of a 22-week-old fetus homozygous for A170P was compared to that of a 23-week-old normal fetal growth plate: SHOX was observed in the resting, proliferative, and hypertrophic zones of both the control and the LMD growth plate. However, chondrocytes were enlarged and in pairs in the reserve zone of the LMD growth plate, and their columnar stacking in the proliferative zone was disorganized, with the chondrocytes appearing in less-defined columns and in smaller clusters."}, "citations": [{"ids": [{"source": "PubMed", "value": "21712857"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000029994", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_000451.4(SHOX):c.508G>C (p.Ala170Pro)"}}], "canonical_spdi": "NC_000024.10:640841:G:C", "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_710t1:c.508G>C"}, {"type": "HGVS, coding, LRG", "value": "LRG_710t2:c.508G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_000451.4:c.508G>C"}, {"type": "HGVS, coding, RefSeq", "value": "NM_006883.2:c.508G>C"}, {"type": "HGVS, genomic, LRG", "value": "LRG_710:g.21499G>C"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_009385.2:g.21499G>C"}, {"type": "HGVS, genomic, top level", "value": "NC_000023.11:g.640842G>C", "integer_value": 38}, {"type": "HGVS, genomic, top level", "value": "NC_000024.10:g.640842G>C", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000024.9:g.551577G>C", "integer_value": 37}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000023.10:g.601577G>C", "integer_value": 37}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "LRG_710p1:p.Ala170Pro"}, {"type": "HGVS, protein", "value": "LRG_710p2:p.Ala170Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000442.1:p.Ala170Pro"}, {"type": "HGVS, protein, RefSeq", "value": "NP_006874.1:p.Ala170Pro"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_000451.4:c.508G>C"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_006883.2:c.508G>C"}]}, {"type": "ProteinChange1LetterCode", "value": "A170P"}, {"type": "ProteinChange3LetterCode", "value": "ALA170PRO"}], "cytogenic_locations": ["Xp22.33", "Yp11.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 640842, "stop": 640842, "display_start": 640842, "display_stop": 640842, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 640842, "reference_allele_vcf": "G", "alternate_allele_vcf": "C"}, {"assembly": "GRCh38", "chr": "Y", "accession": "NC_000024.10", "start": 640842, "stop": 640842, "display_start": 640842, "display_stop": 640842, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 640842, "reference_allele_vcf": "G", "alternate_allele_vcf": "C"}, {"assembly": "GRCh37", "chr": "X", "accession": "NC_000023.10", "start": 601577, "stop": 601577, "display_start": 601577, "display_stop": 601577, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 601577, "reference_allele_vcf": "G", "alternate_allele_vcf": "C"}, {"assembly": "GRCh37", "chr": "Y", "accession": "NC_000024.9", "start": 551577, "stop": 551577, "display_start": 551577, "display_stop": 551577, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 551577, "reference_allele_vcf": "G", "alternate_allele_vcf": "C"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "short stature homeobox"}}], "symbols": [{"value": {"type": "Preferred", "value": "SHOX"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "X", "accession": "NC_000023.11", "start": 624344, "stop": 659411, "display_start": 624344, "display_stop": 659411, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "Y", "accession": "NC_000024.10", "start": 624344, "stop": 659411, "display_start": 624344, "display_stop": 659411, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "6473"}, {"db": "OMIM", "id": "312865", "type": "MIM"}, {"db": "OMIM", "id": "400020", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:10853"}]}], "xrefs": [{"db": "OMIM", "id": "312865.0014", "type": "Allelic variant"}, {"db": "dbSNP", "id": "397514461", "type": "rs"}], "id": 38949}], "names": [{"value": {"type": "Preferred", "value": "NM_000451.4(SHOX):c.508G>C (p.Ala170Pro)"}}, {"value": {"type": "Preferred", "value": "NM_000451.4(SHOX):c.508G>C (p.Ala170Pro)"}}], "xrefs": [{"db": "ClinGen", "id": "CA128821"}], "id": 29994}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Langer mesomelic dysplasia syndrome"}, "xrefs": [{"db": "Genetic Alliance", "id": "Langer+mesomelic+dysplasia/4083"}, {"db": "SNOMED CT", "id": "38494008"}]}, {"value": {"type": "Alternate", "value": "Langer mesomelic dysplasia"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0009588"}]}, {"value": {"type": "Alternate", "value": "Dyschondrosteosis, homozygous"}}, {"value": {"type": "Alternate", "value": "Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type"}}], "symbols": [{"value": {"type": "Preferred", "value": "LMD"}, "xrefs": [{"db": "OMIM", "id": "249700", "type": "MIM"}]}], "attributes": [{"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "3553"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0009588"}, {"db": "MedGen", "id": "C0432230"}, {"db": "Orphanet", "id": "2632"}, {"db": "OMIM", "id": "249700", "type": "MIM"}]}], "id": 2778}, "date_created": "2013-04-04", "date_last_updated": "2022-04-23", "id": 80391}, "record_status": "current", "title": "NM_000451.4(SHOX):c.508G>C (p.Ala170Pro) AND Langer mesomelic dysplasia syndrome", "clinvar_assertions": [{"id": 49435, "submission_id": {"local_key": "312865.0014_LANGER MESOMELIC DYSPLASIA", "submitter": "OMIM", "title": "SHOX, ALA170PRO_LANGER MESOMELIC DYSPLASIA", "submitter_date": "2018-11-07"}, "clinvar_accession": {"acc": "SCV000044179", "version": 3, "type": "SCV", "date_updated": "2018-11-09", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to included disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2011-12-01"}], "external_ids": [{"db": "OMIM", "id": "312865.0014", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 34 individuals with Leri-Weill dyschondrosteosis (127300) and 4 with Langer mesomelic dysplasia (249700) from 12 Spanish multiplex families, 2 of which had previously been studied (Sabherwal et al., 2004, 2004), Barca-Tierno et al. (2011) identified heterozygosity or homozygosity, respectively, for a 508G-C transversion in the SHOX gene, resulting in an ala170-to-pro (A170P) substitution. Microsatellite analysis revealed a shared haplotype around SHOX, confirming the presence of a common ancestor, probably of Gypsy origin, as 11 of the 12 families were of that ethnic group. The mutation was not found in 359 Eastern European Gypsies. Transient transfection studies in U2OS cells demonstrated that the A170P mutant protein failed to localize to the nucleus. Expression of mutant SHOX in the human growth plate of a 22-week-old fetus homozygous for A170P was compared to that of a 23-week-old normal fetal growth plate: SHOX was observed in the resting, proliferative, and hypertrophic zones of both the control and the LMD growth plate. However, chondrocytes were enlarged and in pairs in the reserve zone of the LMD growth plate, and their columnar stacking in the proliferative zone was disorganized, with the chondrocytes appearing in less-defined columns and in smaller clusters."}, "citations": [{"ids": [{"source": "PubMed", "value": "21712857"}]}], "xrefs": [{"db": "OMIM", "id": "127300", "type": "MIM"}, {"db": "OMIM", "id": "249700", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "SHOX, ALA170PRO"}}], "attributes": [{"type": "NonHGVS", "value": "ALA170PRO"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "SHOX"}}]}], "xrefs": [{"db": "OMIM", "id": "312865.0014", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "included", "value": "LANGER MESOMELIC DYSPLASIA"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV001025630", "version": 4, "type": "RCV", "date_updated": "2023-02-07", "date_created": "2020-03-16"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, multiple submitters, no conflicts", "description": "other", "date_last_evaluated": "2020-07-22"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown", "number_tested": 1}, "methods": ["clinical testing", "clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}, {"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000090317", "version": 11, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_000249.4(MLH1):c.677+5G>A"}}], "canonical_spdi": "NC_000003.12:37012103:G:A", "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_216t1:c.677+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354621.2:c.-140+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354624.2:c.-150+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354625.2:c.-150+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354626.2:c.-150+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354627.2:c.-150+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354622.2:c.-253+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354623.2:c.-253+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001167618.3:c.-47+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001167619.3:c.-47+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001258273.2:c.-47+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001258274.3:c.-47+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354615.2:c.-47+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354616.2:c.-47+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354617.2:c.-47+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354618.2:c.-47+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354619.2:c.-47+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001167617.3:c.383+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354620.2:c.383+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354629.2:c.578+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_000249.4:c.677+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001258271.2:c.677+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354628.2:c.677+5G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001354630.2:c.677+5G>A"}, {"type": "HGVS, genomic, LRG", "value": "LRG_216:g.23755G>A"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_007109.2:g.23755G>A"}, {"type": "HGVS, genomic, top level", "value": "NC_000003.12:g.37012104G>A", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000003.11:g.37053595G>A", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_000249.3:c.677+5G>A"}, {"type": "HGVS, protein"}, {"type": "HGVS, protein"}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_000249.4:c.677+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001167617.3:c.383+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001167618.3:c.-47+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001167619.3:c.-47+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001258271.2:c.677+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001258273.2:c.-47+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001258274.3:c.-47+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354615.2:c.-47+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354616.2:c.-47+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354617.2:c.-47+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354618.2:c.-47+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354619.2:c.-47+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354620.2:c.383+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354621.2:c.-140+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354622.2:c.-253+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354623.2:c.-253+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354624.2:c.-150+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354625.2:c.-150+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354626.2:c.-150+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354627.2:c.-150+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354628.2:c.677+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354629.2:c.578+5G>A"}]}, {"type": "MolecularConsequence", "value": "intron variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001627"}, {"db": "RefSeq", "id": "NM_001354630.2:c.677+5G>A"}]}], "cytogenic_locations": ["3p22.2"], "sequence_locations": [{"assembly": "GRCh38", "chr": "3", "accession": "NC_000003.12", "start": 37012104, "stop": 37012104, "display_start": 37012104, "display_stop": 37012104, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 37012104, "reference_allele_vcf": "G", "alternate_allele_vcf": "A"}, {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "start": 37053595, "stop": 37053595, "display_start": 37053595, "display_stop": 37053595, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 37053595, "reference_allele_vcf": "G", "alternate_allele_vcf": "A"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "mutL homolog 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "MLH1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "3", "accession": "NC_000003.12", "start": 36993466, "stop": 37050846, "display_start": 36993466, "display_stop": 37050846, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "3", "accession": "NC_000003.11", "start": 37034840, "stop": 37092336, "display_start": 37034840, "display_stop": 37092336, "strand": "+", "variant_length": 57497, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "4292"}, {"db": "OMIM", "id": "120436", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:7127"}], "comments": [{"text": "This gene is cited in the ACMG recommendations of 2013 (PubMed 23788249) for reporting incidental findings in exons.", "type": "public", "datasource": "NCBI curation"}, {"text": "This gene is cited in the ACMG recommendations of 2016 (PubMed 27854360) for reporting incidental findings in exons.", "type": "public", "datasource": "NCBI curation"}, {"text": "This gene is cited in the ACMG recommendations of 2021 (SF v3.0; PubMed 34012068) for reporting secondary findings in clinical exome and genome sequencing.", "type": "public", "datasource": "ClinVar"}, {"text": "This gene is cited in the ACMG recommendations of 2022 (SF v3.1; PubMed 35802134) for reporting secondary findings in clinical exome and genome sequencing.", "type": "public", "datasource": "ClinVar"}]}], "xrefs": [{"db": "International Society for Gastrointestinal Hereditary Tumours (InSiGHT)", "id": "c.677+5G>A"}, {"db": "Quest Diagnostics Nichols Institute San Juan Capistrano", "id": "2850174"}, {"db": "dbSNP", "id": "587779034", "type": "rs"}], "id": 95791}], "names": [{"value": {"type": "Preferred", "value": "NM_000249.4(MLH1):c.677+5G>A"}}, {"value": {"type": "Preferred", "value": "NM_000249.4(MLH1):c.677+5G>A"}}, {"value": {"type": "Preferred", "value": "NM_000249.4(MLH1):c.677+5G>A"}}], "xrefs": [{"db": "ClinGen", "id": "CA011569"}], "id": 90317}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Hereditary cancer-predisposing syndrome"}, "xrefs": [{"db": "SNOMED CT", "id": "699346009"}]}, {"value": {"type": "Alternate", "value": "Neoplastic Syndromes, Hereditary"}, "xrefs": [{"db": "MeSH", "id": "D009386"}]}, {"value": {"type": "Alternate", "value": "Tumor predisposition"}}, {"value": {"type": "Alternate", "value": "Cancer predisposition"}, "xrefs": [{"db": "Genetic Alliance", "id": "Hereditary+Cancer/3345"}]}, {"value": {"type": "Alternate", "value": "Hereditary Cancer Syndrome"}}], "attributes": [{"value": {"type": "keyword", "value": "Neoplasm"}}, {"value": {"type": "keyword", "value": "Hereditary cancer syndrome"}}], "citations": [{"ids": [{"source": "pmc", "value": "3075918"}], "type": "practice guideline", "abbrev": "IARC, 2008"}, {"ids": [{"source": "PubMed", "value": "25394175"}], "type": "practice guideline", "abbrev": "ACMG/NSGC, 2015"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0015356"}, {"db": "MeSH", "id": "D009386"}, {"db": "MedGen", "id": "C0027672"}]}], "id": 13598}, "date_created": "2020-03-16", "date_last_updated": "2023-02-07", "id": 2345939}, "record_status": "current", "title": "NM_000249.4(MLH1):c.677+5G>A AND Hereditary cancer-predisposing syndrome", "clinvar_assertions": [{"id": 2327848, "submission_id": {"local_key": "a453800", "submitter": "Ambry Genetics", "submitted_assembly": "GRCh37", "submitter_date": "2022-11-11"}, "clinvar_accession": {"acc": "SCV001187858", "version": 3, "type": "SCV", "date_updated": "2022-11-29", "date_created": "2020-03-16", "org_id": "61756", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["pathogenic"], "citations": [{"ids": [{"source": "PubMed", "value": "23354634"}]}, {"ids": [{"source": "PubMed", "value": "24344984"}]}, {"ids": [{"source": "PubMed", "value": "28874130"}]}], "comments": [{"text": "The c.677+5G>A pathogenic mutation results from a G to A substitution 5 nucleotides after coding exon 8 in the MLH1 gene. This nucleotide position is highly conserved in available vertebrate species. This alteration was identified and segregated with disease in individuals meeting Amsterdam Criteria II with colorectal tumors demonstrating MSI-H and/or loss of MLH1 protein expression by IHC (Wielandt AM et al. Rev Med Chil, 2012 Sep;140:1132-9; Ambry internal data) and has been reported in individuals of South American decent (Dominguez-Valentin M et al. Hered Cancer Clin Pract 2013 Dec;11:18; Rossi BM et al. BMC Cancer 2017 Sep;17:623). In addition, this variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation."}], "date_last_evaluated": "2019-08-27"}], "external_ids": [{"db": "Ambry Genetics", "id": "a453800"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Ambry General Variant Classification Scheme_2022"}, "citations": [{"url": "https://submit.ncbi.nlm.nih.gov/ft/byid/5hsvndk6/ambry_general_variant_classification_scheme_2022.pdf"}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown", "number_tested": 1}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_000249.3:c.677+5G>A"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "MLH1"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MedGen", "id": "C0027672", "type": "CUI"}]}]}}, {"id": 3412416, "submission_id": {"local_key": "Db4KrQBSZeoE7-orUyypkSOa-eMm36ihODQ12xtV7eU|MedGen:C0027672", "submitter": "Color Diagnostics, LLC DBA Color Health", "submitted_assembly": "GRCh37", "submitter_date": "2021-06-11"}, "clinvar_accession": {"acc": "SCV001735153", "version": 1, "type": "SCV", "date_updated": "2021-06-19", "date_created": "2021-06-19", "org_id": "505849", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["likely pathogenic"], "comments": [{"text": "This variant causes a G to A nucleotide substitution at the +5 position of intron 8 of the MLH1 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. Studies using carrier RNA from blood and minigene assay have shown that this variant causes skipping of exon 8 or skipping of exon 6 and 8 in the RNA transcripts (PMID: 32363481). The aberrant transcripts are expected to create a premature translation stop signal and result in an absent or non-functional protein product. This variant has been reported in individuals affected with Lynch syndrome-associated cancers and to segregate with disease (PMID: 24344984, 28874130, 32363481, 32549215). Microsatellite instability and loss of MLH1 and PMS2 protein expression have been reported in tumor samples from these individuals (PMID: 32363481). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MLH1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic."}], "date_last_evaluated": "2020-07-22"}], "external_ids": [{"db": "Color Health, Inc", "id": "Db4KrQBSZeoE7-orUyypkSOa-eMm36ihODQ12xtV7eU"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "ACMG Guidelines, 2015"}, "citations": [{"ids": [{"source": "PubMed", "value": "25741868"}]}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_000249.3:c.677+5G>A"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "MLH1"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MedGen", "id": "C0027672", "type": "CUI"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000014462", "version": 19, "type": "RCV", "date_updated": "2023-03-26", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2002-08-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In affected members of 2 PEOA1 (157640) families originating from a small village in northwest Sicily, Lamantea et al. (2002) identified a heterozygous 2869G-T transversion in the POLG gene, resulting in an ala957-to-ser (A957S) substitution. One patient in 1 of the families was homozygous for the A957S mutation and showed a more severe phenotype with earlier onset and a much higher amount of mtDNA deletions than his mildly affected heterozygous mother. Microsatellite analysis showed a common disease haplotype, supporting a common origin in these 2 families."}, "citations": [{"ids": [{"source": "PubMed", "value": "12210792"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000013508", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)"}}], "canonical_spdi": "NC_000015.10:89320877:C:A", "attributes": [{"type": "HGVS, coding, RefSeq", "value": "NM_001126131.2:c.2869G>T"}, {"type": "HGVS, coding, RefSeq", "value": "NM_002693.3:c.2869G>T"}, {"type": "HGVS, genomic, LRG", "value": "LRG_765:g.18918G>T"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_008218.2:g.18918G>T"}, {"type": "HGVS, genomic, top level", "value": "NC_000015.10:g.89320878C>A", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000015.9:g.89864109C>A", "integer_value": 37}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "P54098:p.Ala957Ser"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001119603.1:p.Ala957Ser"}, {"type": "HGVS, protein, RefSeq", "value": "NP_002684.1:p.Ala957Ser"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001126131.2:c.2869G>T"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_002693.3:c.2869G>T"}]}, {"type": "ProteinChange1LetterCode", "value": "A957S"}, {"type": "ProteinChange3LetterCode", "value": "ALA957SER"}], "cytogenic_locations": ["15q26.1"], "sequence_locations": [{"assembly": "GRCh38", "chr": "15", "accession": "NC_000015.10", "start": 89320878, "stop": 89320878, "display_start": 89320878, "display_stop": 89320878, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 89320878, "reference_allele_vcf": "C", "alternate_allele_vcf": "A"}, {"assembly": "GRCh37", "chr": "15", "accession": "NC_000015.9", "start": 89864109, "stop": 89864109, "display_start": 89864109, "display_stop": 89864109, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 89864109, "reference_allele_vcf": "C", "alternate_allele_vcf": "A"}], "measure_relationship": [{"type": "within multiple genes by overlap", "names": [{"value": {"type": "Preferred", "value": "DNA polymerase gamma, catalytic subunit"}}], "symbols": [{"value": {"type": "Preferred", "value": "POLG"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "15", "accession": "NC_000015.10", "start": 89316320, "stop": 89334824, "display_start": 89316320, "display_stop": 89334824, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "15", "accession": "NC_000015.9", "start": 89859535, "stop": 89878025, "display_start": 89859535, "display_stop": 89878025, "strand": "-", "variant_length": 18491, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "5428"}, {"db": "OMIM", "id": "174763", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:9179"}]}, {"type": "within multiple genes by overlap", "names": [{"value": {"type": "Preferred", "value": "POLG alternative reading frame"}}], "symbols": [{"value": {"type": "Preferred", "value": "POLGARF"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "15", "accession": "NC_000015.10", "start": 89316320, "stop": 89334824, "display_start": 89316320, "display_stop": 89334824, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "125316803"}, {"db": "HGNC", "id": "HGNC:56246"}]}], "xrefs": [{"db": "UniProtKB", "id": "P54098#VAR_023682"}, {"db": "OMIM", "id": "174763.0014", "type": "Allelic variant"}, {"db": "dbSNP", "id": "121918051", "type": "rs"}], "id": 28547}], "names": [{"value": {"type": "Preferred", "value": "NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)"}}], "xrefs": [{"db": "ClinGen", "id": "CA256895"}], "id": 13508}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0024528"}]}, {"value": {"type": "Alternate", "value": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1"}, "xrefs": [{"db": "OMIM", "id": "157640", "type": "MIM"}]}], "symbols": [{"value": {"type": "Alternate", "value": "PEOA1"}, "xrefs": [{"db": "OMIM", "id": "157640", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called \"chronic progressive external ophthalmoplegia plus,\" or \"CPEO+\")."}, "xrefs": [{"db": "GeneReviews", "id": "NBK26471"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301382"}, {"source": "BookShelf", "value": "NBK1203"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "20301791"}, {"source": "BookShelf", "value": "NBK26471"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "28749475"}, {"source": "pmc", "value": "7804217"}], "type": "general", "abbrev": "MMS, 2017"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0024528"}, {"db": "MedGen", "id": "C1834846"}, {"db": "OMIM", "id": "157640", "type": "MIM"}]}], "id": 3712}, "date_created": "2013-04-04", "date_last_updated": "2023-03-26", "id": 71965}, "record_status": "current", "title": "NM_002693.3(POLG):c.2869G>T (p.Ala957Ser) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1", "clinvar_assertions": [{"id": 34713, "submission_id": {"local_key": "174763.0014_PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1", "submitter": "OMIM", "title": "POLG, ALA957SER_PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1", "submitter_date": "2016-10-11"}, "clinvar_accession": {"acc": "SCV000034713", "version": 3, "type": "SCV", "date_updated": "2016-10-14", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2002-08-01"}], "external_ids": [{"db": "OMIM", "id": "174763.0014", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In affected members of 2 PEOA1 (157640) families originating from a small village in northwest Sicily, Lamantea et al. (2002) identified a heterozygous 2869G-T transversion in the POLG gene, resulting in an ala957-to-ser (A957S) substitution. One patient in 1 of the families was homozygous for the A957S mutation and showed a more severe phenotype with earlier onset and a much higher amount of mtDNA deletions than his mildly affected heterozygous mother. Microsatellite analysis showed a common disease haplotype, supporting a common origin in these 2 families."}, "citations": [{"ids": [{"source": "PubMed", "value": "12210792"}]}], "xrefs": [{"db": "OMIM", "id": "157640", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "POLG, ALA957SER"}}], "attributes": [{"type": "NonHGVS", "value": "ALA957SER"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "POLG"}}]}], "xrefs": [{"db": "OMIM", "id": "174763.0014", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000445396", "version": 1, "type": "RCV", "date_updated": "2023-03-26", "date_created": "2017-03-14"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "uncertain significance", "date_last_evaluated": "2016-01-11"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}, {"attribute": {"type": "NumberMosaic", "integer_value": 0}}, {"attribute": {"type": "SecondaryFinding", "value": "no"}}]}], "measures": {"type": "Variant", "acc": "VCV000393457", "version": 4, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr)"}}], "canonical_spdi": "NC_000002.12:47476438:G:A", "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_218t1:c.2078G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001258281.1:c.1880G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_000251.3:c.2078G>A"}, {"type": "HGVS, genomic, LRG", "value": "LRG_218:g.78316G>A"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_007110.2:g.78316G>A"}, {"type": "HGVS, genomic, top level", "value": "NC_000002.12:g.47476439G>A", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.11:g.47703578G>A", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_000251.1:c.2078G>A"}, {"type": "HGVS, previous", "value": "NM_000251.2:c.2078G>A"}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "p.C693Y"}, {"type": "HGVS, protein", "value": "LRG_218p1:p.Cys693Tyr"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001245210.1:p.Cys627Tyr"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000242.1:p.Cys693Tyr"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000242.1:p.Cys693Tyr"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_000251.3:c.2078G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001258281.1:c.1880G>A"}]}, {"type": "ProteinChange1LetterCode", "value": "C627Y"}, {"type": "ProteinChange1LetterCode", "value": "C693Y"}], "cytogenic_locations": ["2p21"], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 47476439, "stop": 47476439, "display_start": 47476439, "display_stop": 47476439, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 47476439, "reference_allele_vcf": "G", "alternate_allele_vcf": "A"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 47703578, "stop": 47703578, "display_start": 47703578, "display_stop": 47703578, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 47703578, "reference_allele_vcf": "G", "alternate_allele_vcf": "A"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "mutS homolog 2"}}], "symbols": [{"value": {"type": "Preferred", "value": "MSH2"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 47403067, "stop": 47709830, "display_start": 47403067, "display_stop": 47709830, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 47630205, "stop": 47710366, "display_start": 47630205, "display_stop": 47710366, "strand": "+", "variant_length": 80162, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "4436"}, {"db": "OMIM", "id": "609309", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:7325"}], "comments": [{"text": "This gene is cited in the ACMG recommendations of 2013 (PubMed 23788249) for reporting incidental findings in exons.", "type": "public", "datasource": "NCBI curation"}, {"text": "This gene is cited in the ACMG recommendations of 2016 (PubMed 27854360) for reporting incidental findings in exons.", "type": "public", "datasource": "NCBI curation"}, {"text": "This gene is cited in the ACMG recommendations of 2021 (SF v3.0; PubMed 34012068) for reporting secondary findings in clinical exome and genome sequencing.", "type": "public", "datasource": "ClinVar"}, {"text": "This gene is cited in the ACMG recommendations of 2022 (SF v3.1; PubMed 35802134) for reporting secondary findings in clinical exome and genome sequencing.", "type": "public", "datasource": "ClinVar"}]}], "xrefs": [{"db": "dbSNP", "id": "1057524909", "type": "rs"}], "id": 380277}], "names": [{"value": {"type": "Preferred", "value": "NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr)"}}, {"value": {"type": "Preferred", "value": "NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr)"}}], "xrefs": [{"db": "ClinGen", "id": "CA16609274"}], "id": 393457}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "not specified"}}, {"value": {"type": "Alternate", "value": "AllHighlyPenetrant"}}], "attributes": [{"value": {"type": "public definition", "value": "The term 'not specified' was created for use in ClinVar so that submitters can convey the concept that a variant is benign, likely benign, or of uncertain significance for an unspecified set of disorders. This usage was introduced in 2014 to replace AllHighlyPenetrant."}}], "xrefs": [{"db": "MedGen", "id": "CN169374"}]}], "id": 9590}, "date_created": "2017-03-14", "date_last_updated": "2023-03-26", "id": 1030503}, "record_status": "current", "title": "NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr) AND not specified", "clinvar_assertions": [{"id": 1030461, "submission_id": {"local_key": "c.2078G>A", "submitter": "Genetic Laboratory, Instituto Nacional de Cancer", "submitted_assembly": "GRCh37", "submitter_date": "2017-01-12"}, "clinvar_accession": {"acc": "SCV000537128", "version": 1, "type": "SCV", "date_updated": "2017-03-14", "date_created": "2017-03-14", "org_id": "506064", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["uncertain significance"], "date_last_evaluated": "2016-01-11"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "number_tested": 1, "gender": "female", "family_data": {"pedigree_id": "1108"}, "proband": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "NumberMosaic", "integer_value": 0}}, {"attribute": {"type": "SingleHeterozygote", "integer_value": 1}}, {"attribute": {"type": "SecondaryFinding", "value": "no"}}], "comments": [{"text": "Ascending colon cancer diagnosed at 42 years old. Immunohistochemistry demonstrated lost of MSH6 protein. Microsatellite instability for the 5 biomarkers screened (MSI-H). Suggestive of Lynch Syndrome."}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Alternate", "value": "p.C693Y"}}], "attributes": [{"type": "HGVS", "value": "NM_000251.2:c.2078G>A"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "MSH2"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "not specified"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000571689", "version": 6, "type": "RCV", "date_updated": "2023-03-26", "date_created": "2018-01-01"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, multiple submitters, no conflicts", "description": "pathogenic", "date_last_evaluated": "2020-04-02"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown", "number_tested": 1}, "methods": ["clinical testing", "clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}, {"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000090883", "version": 8, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_000251.3(MSH2):c.2090G>T (p.Cys697Phe)"}}], "canonical_spdi": "NC_000002.12:47476450:G:T", "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_218t1:c.2090G>T"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001258281.1:c.1892G>T"}, {"type": "HGVS, coding, RefSeq", "value": "NM_000251.3:c.2090G>T"}, {"type": "HGVS, genomic, LRG", "value": "LRG_218:g.78328G>T"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_007110.2:g.78328G>T"}, {"type": "HGVS, genomic, top level", "value": "NC_000002.12:g.47476451G>T", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.11:g.47703590G>T", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_000251.1:c.2090G>T"}, {"type": "HGVS, previous", "value": "NM_000251.2:c.2090G>T"}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "LRG_218p1:p.Cys697Phe"}, {"type": "HGVS, protein", "value": "P43246:p.Cys697Phe"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001245210.1:p.Cys631Phe"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000242.1:p.Cys697Phe"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000242.1:p.Cys697Phe"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_000251.3:c.2090G>T"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001258281.1:c.1892G>T"}]}, {"type": "ProteinChange1LetterCode", "value": "C631F"}, {"type": "ProteinChange1LetterCode", "value": "C697F"}], "cytogenic_locations": ["2p21"], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 47476451, "stop": 47476451, "display_start": 47476451, "display_stop": 47476451, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 47476451, "reference_allele_vcf": "G", "alternate_allele_vcf": "T"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 47703590, "stop": 47703590, "display_start": 47703590, "display_stop": 47703590, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 47703590, "reference_allele_vcf": "G", "alternate_allele_vcf": "T"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "mutS homolog 2"}}], "symbols": [{"value": {"type": "Preferred", "value": "MSH2"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 47403067, "stop": 47709830, "display_start": 47403067, "display_stop": 47709830, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 47630205, "stop": 47710366, "display_start": 47630205, "display_stop": 47710366, "strand": "+", "variant_length": 80162, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "4436"}, {"db": "OMIM", "id": "609309", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:7325"}], "comments": [{"text": "This gene is cited in the ACMG recommendations of 2013 (PubMed 23788249) for reporting incidental findings in exons.", "type": "public", "datasource": "NCBI curation"}, {"text": "This gene is cited in the ACMG recommendations of 2016 (PubMed 27854360) for reporting incidental findings in exons.", "type": "public", "datasource": "NCBI curation"}, {"text": "This gene is cited in the ACMG recommendations of 2021 (SF v3.0; PubMed 34012068) for reporting secondary findings in clinical exome and genome sequencing.", "type": "public", "datasource": "ClinVar"}, {"text": "This gene is cited in the ACMG recommendations of 2022 (SF v3.1; PubMed 35802134) for reporting secondary findings in clinical exome and genome sequencing.", "type": "public", "datasource": "ClinVar"}]}], "xrefs": [{"db": "International Society for Gastrointestinal Hereditary Tumours (InSiGHT)", "id": "c.2090G>T"}, {"db": "UniProtKB", "id": "P43246#VAR_004486"}, {"db": "dbSNP", "id": "63750398", "type": "rs"}], "id": 96358}], "names": [{"value": {"type": "Preferred", "value": "NM_000251.3(MSH2):c.2090G>T (p.Cys697Phe)"}}, {"value": {"type": "Preferred", "value": "NM_000251.3(MSH2):c.2090G>T (p.Cys697Phe)"}}], "xrefs": [{"db": "ClinGen", "id": "CA019999"}], "id": 90883}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Hereditary cancer-predisposing syndrome"}, "xrefs": [{"db": "SNOMED CT", "id": "699346009"}]}, {"value": {"type": "Alternate", "value": "Neoplastic Syndromes, Hereditary"}, "xrefs": [{"db": "MeSH", "id": "D009386"}]}, {"value": {"type": "Alternate", "value": "Tumor predisposition"}}, {"value": {"type": "Alternate", "value": "Cancer predisposition"}, "xrefs": [{"db": "Genetic Alliance", "id": "Hereditary+Cancer/3345"}]}, {"value": {"type": "Alternate", "value": "Hereditary Cancer Syndrome"}}], "attributes": [{"value": {"type": "keyword", "value": "Neoplasm"}}, {"value": {"type": "keyword", "value": "Hereditary cancer syndrome"}}], "citations": [{"ids": [{"source": "pmc", "value": "3075918"}], "type": "general", "abbrev": "IARC, 2008"}, {"ids": [{"source": "PubMed", "value": "25394175"}], "type": "general", "abbrev": "ACMG/NSGC, 2015"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0015356"}, {"db": "MeSH", "id": "D009386"}, {"db": "MedGen", "id": "C0027672"}]}], "id": 13598}, "date_created": "2018-01-01", "date_last_updated": "2023-03-26", "id": 1323111}, "record_status": "current", "title": "NM_000251.3(MSH2):c.2090G>T (p.Cys697Phe) AND Hereditary cancer-predisposing syndrome", "clinvar_assertions": [{"id": 1305117, "submission_id": {"local_key": "a6171", "submitter": "Ambry Genetics", "submitted_assembly": "GRCh37", "submitter_date": "2022-11-11"}, "clinvar_accession": {"acc": "SCV000669699", "version": 4, "type": "SCV", "date_updated": "2022-11-29", "date_created": "2018-01-01", "org_id": "61756", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["pathogenic"], "citations": [{"ids": [{"source": "PubMed", "value": "17101317"}]}, {"ids": [{"source": "PubMed", "value": "17531815"}]}, {"ids": [{"source": "PubMed", "value": "22102614"}]}, {"ids": [{"source": "PubMed", "value": "24362816"}]}, {"ids": [{"source": "PubMed", "value": "31569399"}]}, {"ids": [{"source": "PubMed", "value": "9298827"}]}], "comments": [{"text": "The p.C697F pathogenic mutation (also known as c.2090G>T), located in coding exon 13 of the MSH2 gene, results from a G to T substitution at nucleotide position 2090. The cysteine at codon 697 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This alteration has been found to have moderate segregation with disease in families that met Amsterdam criteria for Lynch syndrome. Tumor samples from at least one affected individual in each family demonstrated high microsatellite instability (Wehner M et al. Hum. Mutat., 1997;10:241-4; Ollila S et al. Gastroenterology, 2006 Nov;131:1408-17; Ollila S et al. Int. J. Oncol., 2006 Jan;28:149-53). Several studies performed with this variant demonstrated reduced mismatch repair activity when compared to wild type and defective DNA mismatch binding (Ollila S et al. Int. J. Oncol., 2006 Jan;28:149-53; Ollila S et al. Gastroenterology, 2006 Nov;131:1408-17; Drost M et al. Hum. Mutat., 2012 Mar;33:488-94; Lützen A et al. Mutat. Res., 2008 Oct;645:44-55; Ollila S et al. Hum. Mutat., 2008 Nov;29:1355-63). This alteration has also been classified as pathogenic by multifactorial analysis, which integrates the following lines of evidence to produce a quantitative likelihood of pathogenicity: in silico prediction models, segregation with disease, tumor characteristics, mutation co-occurrence, and functional assay results (Thompson BA et al. Nat. Genet., 2014 Feb;46:107-15). The p.C697F alteration is part of the ATPase domain, which is a structurally important region (Ollila S et al. Gastroenterology, 2006 Nov;131:1408-17). Based on internal structural analysis, this variant is significantly more destabilizing than nearby known pathogenic variants (Warren JJ et al. Mol. Cell, 2007 May;26:579-92). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation."}], "date_last_evaluated": "2020-04-02"}], "external_ids": [{"db": "Ambry Genetics", "id": "a6171"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Ambry General Variant Classification Scheme_2022"}, "citations": [{"url": "https://submit.ncbi.nlm.nih.gov/ft/byid/5hsvndk6/ambry_general_variant_classification_scheme_2022.pdf"}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown", "number_tested": 1}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_000251.1:c.2090G>T"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "MSH2"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MedGen", "id": "C0027672", "type": "CUI"}]}]}}, {"id": 2662855, "submission_id": {"local_key": "Db4KrQBSZeoE7-orUyypkcChGU154SMr11OHlHwLRns|MedGen:C0027672", "submitter": "Color Diagnostics, LLC DBA Color Health", "submitted_assembly": "GRCh37", "submitter_date": "2022-01-10"}, "clinvar_accession": {"acc": "SCV001354540", "version": 2, "type": "SCV", "date_updated": "2022-01-12", "date_created": "2020-06-22", "org_id": "505849", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["pathogenic"], "comments": [{"text": "This missense variant replaces cysteine with phenylalanine at codon 697 of the MSH2 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on the protein function. Splice site prediction tools suggest that this variant may not impact RNA splicing. Functional studies have shown that this variant causes deficient mismatch repair activity, reduced protein expression, and abnormal cellular localization (PMID: 10469597, 16327991, 17101317, 17720936, 18822302, 18951462, 22102614). This variant has been reported in more than 10 individuals affected with colorectal cancer, endometrial cancer, and sebaceous carcinoma (PMID: 10323887, 11231323, 11859205, 12436451, 15235030, 16327991, 17101317, 18566915, 9298827). Microsatellite instability has been demonstrated in more than 5 tumor samples from these individuals (PMID: 11231323, 11859205, 12436451, 16327991, 17101317). Immunohistochemistry has demonstrated loss of MSH2 protein expression in more than 5 tumor samples (PMID: 11859205, 12436451, 15235030, 16327991, 17101317). Different variants affecting the same position (p.Cys697Tyr and p.Cys697Arg) are considered to be disease-causing (ClinVar variation ID: 187518 and 90882), suggesting that cysteine at this position is important for protein structure and function. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Pathogenic."}], "date_last_evaluated": "2019-07-03"}], "external_ids": [{"db": "Color Health, Inc", "id": "Db4KrQBSZeoE7-orUyypkcChGU154SMr11OHlHwLRns"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "ACMG Guidelines, 2015"}, "citations": [{"ids": [{"source": "PubMed", "value": "25741868"}]}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_000251.2:c.2090G>T"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "MSH2"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MedGen", "id": "C0027672", "type": "CUI"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000774575", "version": 4, "type": "RCV", "date_updated": "2023-03-26", "date_created": "2019-05-20"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "likely pathogenic", "date_last_evaluated": "2020-06-15"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000090790", "version": 8, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn)"}}], "canonical_spdi": "NC_000002.12:47475071:G:A", "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_218t1:c.1807G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001258281.1:c.1609G>A"}, {"type": "HGVS, coding, RefSeq", "value": "NM_000251.3:c.1807G>A"}, {"type": "HGVS, genomic, LRG", "value": "LRG_218:g.76949G>A"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_007110.2:g.76949G>A"}, {"type": "HGVS, genomic, top level", "value": "NC_000002.12:g.47475072G>A", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000002.11:g.47702211G>A", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_000251.1:c.1807G>A"}, {"type": "HGVS, previous", "value": "NM_000251.2:c.1807G>A"}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "LRG_218p1:p.Asp603Asn"}, {"type": "HGVS, protein", "value": "P43246:p.Asp603Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001245210.1:p.Asp537Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000242.1:p.Asp603Asn"}, {"type": "HGVS, protein, RefSeq", "value": "NP_000242.1:p.Asp603Asn"}, {"type": "Location", "value": "NM_000251.2:exon 12"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_000251.3:c.1807G>A"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001258281.1:c.1609G>A"}]}, {"type": "ProteinChange1LetterCode", "value": "D537N"}, {"type": "ProteinChange1LetterCode", "value": "D603N"}], "cytogenic_locations": ["2p21"], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 47475072, "stop": 47475072, "display_start": 47475072, "display_stop": 47475072, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 47475072, "reference_allele_vcf": "G", "alternate_allele_vcf": "A"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 47702211, "stop": 47702211, "display_start": 47702211, "display_stop": 47702211, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 47702211, "reference_allele_vcf": "G", "alternate_allele_vcf": "A"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "mutS homolog 2"}}], "symbols": [{"value": {"type": "Preferred", "value": "MSH2"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "2", "accession": "NC_000002.12", "start": 47403067, "stop": 47709830, "display_start": 47403067, "display_stop": 47709830, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "2", "accession": "NC_000002.11", "start": 47630205, "stop": 47710366, "display_start": 47630205, "display_stop": 47710366, "strand": "+", "variant_length": 80162, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "4436"}, {"db": "OMIM", "id": "609309", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:7325"}], "comments": [{"text": "This gene is cited in the ACMG recommendations of 2013 (PubMed 23788249) for reporting incidental findings in exons.", "type": "public", "datasource": "NCBI curation"}, {"text": "This gene is cited in the ACMG recommendations of 2016 (PubMed 27854360) for reporting incidental findings in exons.", "type": "public", "datasource": "NCBI curation"}, {"text": "This gene is cited in the ACMG recommendations of 2021 (SF v3.0; PubMed 34012068) for reporting secondary findings in clinical exome and genome sequencing.", "type": "public", "datasource": "ClinVar"}, {"text": "This gene is cited in the ACMG recommendations of 2022 (SF v3.1; PubMed 35802134) for reporting secondary findings in clinical exome and genome sequencing.", "type": "public", "datasource": "ClinVar"}]}], "xrefs": [{"db": "International Society for Gastrointestinal Hereditary Tumours (InSiGHT)", "id": "c.1807G>A"}, {"db": "UniProtKB", "id": "P43246#VAR_043772"}, {"db": "dbSNP", "id": "63750657", "type": "rs"}], "id": 96265}], "names": [{"value": {"type": "Preferred", "value": "NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn)"}}, {"value": {"type": "Preferred", "value": "NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn)"}}, {"value": {"type": "Preferred", "value": "NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn)"}}, {"value": {"type": "Preferred", "value": "NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn)"}}], "xrefs": [{"db": "ClinGen", "id": "CA019349"}], "id": 90790}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Hereditary cancer-predisposing syndrome"}, "xrefs": [{"db": "SNOMED CT", "id": "699346009"}]}, {"value": {"type": "Alternate", "value": "Neoplastic Syndromes, Hereditary"}, "xrefs": [{"db": "MeSH", "id": "D009386"}]}, {"value": {"type": "Alternate", "value": "Tumor predisposition"}}, {"value": {"type": "Alternate", "value": "Cancer predisposition"}, "xrefs": [{"db": "Genetic Alliance", "id": "Hereditary+Cancer/3345"}]}, {"value": {"type": "Alternate", "value": "Hereditary Cancer Syndrome"}}], "attributes": [{"value": {"type": "keyword", "value": "Neoplasm"}}, {"value": {"type": "keyword", "value": "Hereditary cancer syndrome"}}], "citations": [{"ids": [{"source": "pmc", "value": "3075918"}], "type": "general", "abbrev": "IARC, 2008"}, {"ids": [{"source": "PubMed", "value": "25394175"}], "type": "general", "abbrev": "ACMG/NSGC, 2015"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0015356"}, {"db": "MeSH", "id": "D009386"}, {"db": "MedGen", "id": "C0027672"}]}], "id": 13598}, "date_created": "2019-05-20", "date_last_updated": "2023-03-26", "id": 1785717}, "record_status": "current", "title": "NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn) AND Hereditary cancer-predisposing syndrome", "clinvar_assertions": [{"id": 1776272, "submission_id": {"local_key": "Db4KrQBSZeoE7-orUyypkT-VDv1GpncYQc6tyaOK__s|MedGen:C0027672", "submitter": "Color Diagnostics, LLC DBA Color Health", "submitted_assembly": "GRCh37", "submitter_date": "2021-06-11"}, "clinvar_accession": {"acc": "SCV000908317", "version": 3, "type": "SCV", "date_updated": "2021-06-19", "date_created": "2019-05-20", "org_id": "505849", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["likely pathogenic"], "comments": [{"text": "This missense variant replaces aspartic acid with asparagine at codon 603 in the MSH3/MSH6 interaction domain of the MSH2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies have shown that this variant results in decreased mismatch repair activity in yeast and mammalian cell-based assays (PMID: 17101317, 17720936, 26951660). This is a recurrent variant in the Finnish population and has been reported in several Finnish families affected with Lynch syndrome or Lynch syndrome-associated cancers (PMID: 10829038, 15837969, 17043646, 17101317, 17267619, 23544471). Microsatellite instability has been demonstrated in multiple tumor samples from these individuals (PMID: 15837969, 17101317, 17267619). Immunohistochemistry has demonstrated loss of MSH2 protein expression in multiple tumor samples (PMID: 15837969, 17101317). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic."}], "date_last_evaluated": "2020-06-15"}], "external_ids": [{"db": "Color Health, Inc", "id": "Db4KrQBSZeoE7-orUyypkT-VDv1GpncYQc6tyaOK__s"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "ACMG Guidelines, 2015"}, "citations": [{"ids": [{"source": "PubMed", "value": "25741868"}]}]}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "unknown"}, "methods": ["clinical testing"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NM_000251.2:c.1807G>A"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "MSH2"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "MedGen", "id": "C0027672", "type": "CUI"}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000012959", "version": 3, "type": "RCV", "date_updated": "2023-06-10", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2002-09-01"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 3 unrelated Brazilian patients with the classic form of the 21-hydroxylase deficiency (201910), Billerbeck et al. (2002) found 3 novel mutations after CYP21 gene sequencing. In 1 patient and her brother, both affected with the simple virilizing form, and in their aunt, with the nonclassic form, an AG-to-GG transition was found in the acceptor site of intron 2. In the sibs, this mutation was found in compound heterozygosity with the I172N mutation (613815.0001); in their aunt, it was found in compound heterozygosity with P30L (613815.0004), which confers more than 30% enzyme activity, explaining why she presented with the nonclassic form. In another patient with the salt-wasting form, they found an insertion of an adenine between nucleotides 1003 and 1004, in exon 4, that altered the reading frame and created a stop codon at codon 297 (613815.0029). In the third patient and his sister, they found a C-to-T transition in codon 408 predicted to encode an arg408-to-cys (R408C) substitution in a region where arginine is conserved in at least 4 different species. Microsatellite studies, using markers flanking CYP21 gene, revealed that each new mutation presents the same haplotype, suggesting a gene founder effect for each one."}, "citations": [{"ids": [{"source": "PubMed", "value": "12213891"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000012177", "version": 1, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_000500.9(CYP21A2):c.293-2A>G"}}], "canonical_spdi": "NC_000006.12:32039091:A:G", "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_829t1:c.293-2A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001368143.2:c.-115A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001368144.2:c.-115A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001128590.4:c.203-2A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_000500.9:c.293-2A>G"}, {"type": "HGVS, genomic, LRG", "value": "LRG_829:g.5788A>G"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_045215.1:g.1321A>G"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_007941.3:g.5788A>G"}, {"type": "HGVS, genomic, top level", "value": "NC_000006.12:g.32039092A>G", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000006.11:g.32006869A>G", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_000500.7:c.293-2A>G"}, {"type": "HGVS, protein"}, {"type": "HGVS, protein"}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001368143.2:c.-115A>G"}]}, {"type": "MolecularConsequence", "value": "5 prime UTR variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001623"}, {"db": "RefSeq", "id": "NM_001368144.2:c.-115A>G"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_000500.9:c.293-2A>G"}]}, {"type": "MolecularConsequence", "value": "splice acceptor variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001574"}, {"db": "RefSeq", "id": "NM_001128590.4:c.203-2A>G"}]}, {"type": "nucleotide change", "value": "IVS2, A-G, -2"}], "cytogenic_locations": ["6p21.33"], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "start": 32039092, "stop": 32039092, "display_start": 32039092, "display_stop": 32039092, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 32039092, "reference_allele_vcf": "A", "alternate_allele_vcf": "G"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "start": 32006869, "stop": 32006869, "display_start": 32006869, "display_stop": 32006869, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 32006869, "reference_allele_vcf": "A", "alternate_allele_vcf": "G"}], "measure_relationship": [{"type": "within multiple genes by overlap", "names": [{"value": {"type": "Preferred", "value": "CYP21A2 recombination region"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC106780800"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "start": 32037872, "stop": 32041144, "display_start": 32037872, "display_stop": 32041144, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "6", "accession": "NT_167247.2", "start": 3379909, "stop": 3383177, "display_start": 3379909, "display_stop": 3383177, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "106780800"}]}, {"type": "within multiple genes by overlap", "names": [{"value": {"type": "Preferred", "value": "cytochrome P450 family 21 subfamily A member 2"}}], "symbols": [{"value": {"type": "Preferred", "value": "CYP21A2"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "6", "accession": "NC_000006.12", "start": 32038415, "stop": 32041644, "display_start": 32038415, "display_stop": 32041644, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "6", "accession": "NT_113891.3", "start": 3476737, "stop": 3479966, "display_start": 3476737, "display_stop": 3479966, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "6", "accession": "NT_167245.2", "start": 3279823, "stop": 3283052, "display_start": 3279823, "display_stop": 3283052, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "6", "accession": "NT_167247.2", "start": 3380452, "stop": 3383677, "display_start": 3380452, "display_stop": 3383677, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "6", "accession": "NT_167249.2", "start": 3339605, "stop": 3342831, "display_start": 3339605, "display_stop": 3342831, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "6", "accession": "NT_167248.2", "start": 3261650, "stop": 3264877, "display_start": 3261650, "display_stop": 3264877, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "6", "accession": "NC_000006.11", "start": 32006092, "stop": 32009446, "display_start": 32006092, "display_stop": 32009446, "strand": "+", "variant_length": 3355, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "1589"}, {"db": "OMIM", "id": "613815", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:2600"}]}], "xrefs": [{"db": "OMIM", "id": "613815.0028", "type": "Allelic variant"}, {"db": "dbSNP", "id": "1582302625", "type": "rs"}], "comments": [{"text": "ClinGen staff contributed the HGVS expression for this variant.", "type": "public", "datasource": "ClinGen"}], "id": 27216}], "names": [{"value": {"type": "Preferred", "value": "NM_000500.9(CYP21A2):c.293-2A>G"}}], "id": 12177}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0008728"}, {"db": "Orphanet", "id": "90794"}, {"db": "SNOMED CT", "id": "717261006"}]}, {"value": {"type": "Alternate", "value": "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency"}}, {"value": {"type": "Alternate", "value": "CYP21 deficiency"}}, {"value": {"type": "Alternate", "value": "21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia"}, "xrefs": [{"db": "GeneReviews", "id": "NBK1171"}]}], "attributes": [{"value": {"type": "public definition", "value": "21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all individuals and salt wasting in some individuals. A classic form with severe enzyme deficiency and prenatal onset of virilization is distinguished from a non-classic form with mild enzyme deficiency and postnatal onset. The classic form is further divided into the simple virilizing form (~25% of affected individuals) and the salt-wasting form, in which aldosterone production is inadequate (\u226575% of individuals). Newborns with salt-wasting 21-OHD CAH are at risk for life-threatening salt-wasting crises. Individuals with the non-classic form of 21-OHD CAH present postnatally with signs of hyperandrogenism; females with the non-classic form are not virilized at birth."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1171"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301350"}, {"source": "BookShelf", "value": "NBK1171"}], "type": "review", "abbrev": "GeneReviews"}, {"type": "practice guideline", "abbrev": "ACMG ACT Sheet, 2011", "url": "https://www.ncbi.nlm.nih.gov/books/NBK55827/bin/CAH.pdf", "citation_text": "American College of Medical Genetics ACT SHEET, Congenital Adrenal Hyperplasia, 2011"}, {"type": "practice guideline", "abbrev": "ACMG Algorithm, 2009", "url": "https://www.ncbi.nlm.nih.gov/books/NBK55827/bin/Visio-NBS_Elevated_17OHP.pdf", "citation_text": "American College of Medical Genetics Algorithm, Congenital Adrenal Hyperplasia, 2009"}, {"ids": [{"source": "pmc", "value": "2936060"}], "type": "general", "abbrev": "ESCGS, 2010"}, {"ids": [{"source": "PubMed", "value": "30272171"}, {"source": "pmc", "value": "6456929"}], "type": "general", "abbrev": "ES, 2018"}, {"type": "practice guideline", "abbrev": "ACMG Algorithm, 2009", "url": "https://www.acmg.net/PDFLibrary/Elevated-17-OHP-Algorithm.pdf", "citation_text": "American College of Medical Genetics and Genomics, Algorithm, Congenital Adrenal Hyperplasia (Elevated 17-OHP), 2009"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0008728"}, {"db": "MedGen", "id": "C2936858"}, {"db": "Orphanet", "id": "90794"}, {"db": "OMIM", "id": "201910", "type": "MIM"}]}], "id": 3295}, "date_created": "2013-04-04", "date_last_updated": "2023-06-10", "id": 70462}, "record_status": "current", "title": "NM_000500.9(CYP21A2):c.293-2A>G AND Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "clinvar_assertions": [{"id": 33203, "submission_id": {"local_key": "613815.0028_ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE", "submitter": "OMIM", "title": "CYP21A2, IVS2, A-G, -2_ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE", "submitter_date": "2016-04-06"}, "clinvar_accession": {"acc": "SCV000033203", "version": 2, "type": "SCV", "date_updated": "2016-04-08", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2002-09-01"}], "external_ids": [{"db": "OMIM", "id": "613815.0028", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In 3 unrelated Brazilian patients with the classic form of the 21-hydroxylase deficiency (201910), Billerbeck et al. (2002) found 3 novel mutations after CYP21 gene sequencing. In 1 patient and her brother, both affected with the simple virilizing form, and in their aunt, with the nonclassic form, an AG-to-GG transition was found in the acceptor site of intron 2. In the sibs, this mutation was found in compound heterozygosity with the I172N mutation (613815.0001); in their aunt, it was found in compound heterozygosity with P30L (613815.0004), which confers more than 30% enzyme activity, explaining why she presented with the nonclassic form. In another patient with the salt-wasting form, they found an insertion of an adenine between nucleotides 1003 and 1004, in exon 4, that altered the reading frame and created a stop codon at codon 297 (613815.0029). In the third patient and his sister, they found a C-to-T transition in codon 408 predicted to encode an arg408-to-cys (R408C) substitution in a region where arginine is conserved in at least 4 different species. Microsatellite studies, using markers flanking CYP21 gene, revealed that each new mutation presents the same haplotype, suggesting a gene founder effect for each one."}, "citations": [{"ids": [{"source": "PubMed", "value": "12213891"}]}], "xrefs": [{"db": "OMIM", "id": "201910", "type": "MIM"}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "CYP21A2, IVS2, A-G, -2"}}], "attributes": [{"type": "NonHGVS", "value": "IVS2, A-G, -2"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "CYP21A2"}}]}], "xrefs": [{"db": "OMIM", "id": "613815.0028", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CLASSIC TYPE"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000014439", "version": 20, "type": "RCV", "date_updated": "2023-06-10", "date_created": "2013-04-04"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2004-09-04"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In affected members of a 3-generation Belgian pedigree with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions (157640), Van Goethem et al. (2001) identified a 2864A-G transition in the POLG gene, resulting in a tyr955-to-cys (Y955C) substitution in the polymerase B domain of the protein. The tyrosine at codon 955 is highly conserved. Segregation analysis showed complete cosegregation of Y955C with autosomal dominant PEO (maximum lod = 4.01 at theta = 0.0). The mutation was present in the 8 patients and 2 of 15 at-risk individuals; it was absent in 432 control chromosomes."}, "citations": [{"ids": [{"source": "PubMed", "value": "11431686"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "Lamantea et al. (2002) identified the heterozygous Y955C mutation in 5 unrelated families with adPEO. Four families were Italian and 1 was from Greece; 1 of the Italian families was originally reported by Zeviani et al. (1989) and Servidei et al. (1991). Microsatellite analysis did not identify a common disease haplotype in these families."}, "citations": [{"ids": [{"source": "PubMed", "value": "12210792"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "2067633"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "2725645"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "To analyze the effects of the Y955C mutation on the kinetics and fidelity of DNA synthesis, Ponamarev et al. (2002) expressed the Y955C mutant protein in Sf9 cells by site-directed mutagenesis. The Y955C enzyme retained a wildtype catalytic rate and demonstrated a 45-fold decrease in apparent binding affinity for the incoming nucleoside triphosphate, but the authors noted that mitochondrial matrix pools are usually high enough to overcome this reduced affinity. Fidelity studies showed that the Y955C derivative was 2-fold less accurate for basepair substitutions than wildtype, even with proofreading activity. Genetic inactivation of the exonuclease revealed a 10- to 100-fold increase in mismatch errors. Ponamarev et al. (2002) presented a model in which the enhanced error rate of the mutant enzyme promotes mtDNA deletions, as seen in PEO, via a slippage mechanism."}, "citations": [{"ids": [{"source": "PubMed", "value": "11897778"}], "type": "general"}]}, {"attribute": {"type": "Description", "value": "In affected members of 4 adPEO families, including the Swedish family originally reported by Lundberg (1962), Luoma et al. (2004) identified the heterozygous Y955C mutation."}, "citations": [{"ids": [{"source": "PubMed", "value": "14467368"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "15351195"}], "type": "general"}]}]}], "measures": {"type": "Variant", "acc": "VCV000013495", "version": 12, "measures": [{"type": "single nucleotide variant", "names": [{"value": {"type": "Preferred", "value": "NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)"}}], "canonical_spdi": "NC_000015.10:89320882:T:C", "attributes": [{"type": "HGVS, coding, LRG", "value": "LRG_765t1:c.2864A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_001126131.2:c.2864A>G"}, {"type": "HGVS, coding, RefSeq", "value": "NM_002693.3:c.2864A>G"}, {"type": "HGVS, genomic, LRG", "value": "LRG_765:g.18913A>G"}, {"type": "HGVS, genomic, RefSeqGene", "value": "NG_008218.2:g.18913A>G"}, {"type": "HGVS, genomic, top level", "value": "NC_000015.10:g.89320883T>C", "integer_value": 38}, {"type": "HGVS, genomic, top level, previous", "value": "NC_000015.9:g.89864114T>C", "integer_value": 37}, {"type": "HGVS, previous", "value": "NM_002693.2:c.2864A>G"}, {"type": "HGVS, protein"}, {"type": "HGVS, protein", "value": "LRG_765p1:p.Tyr955Cys"}, {"type": "HGVS, protein", "value": "P54098:p.Tyr955Cys"}, {"type": "HGVS, protein, RefSeq", "value": "NP_001119603.1:p.Tyr955Cys"}, {"type": "HGVS, protein, RefSeq", "value": "NP_002684.1:p.Tyr955Cys"}, {"type": "HGVS, protein, RefSeq", "value": "NP_002684.1:p.Tyr955Cys"}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_001126131.2:c.2864A>G"}]}, {"type": "MolecularConsequence", "value": "missense variant", "xrefs": [{"db": "Sequence Ontology", "id": "SO:0001583"}, {"db": "RefSeq", "id": "NM_002693.3:c.2864A>G"}]}, {"type": "ProteinChange1LetterCode", "value": "Y955C"}, {"type": "ProteinChange3LetterCode", "value": "TYR955CYS"}], "cytogenic_locations": ["15q26.1"], "sequence_locations": [{"assembly": "GRCh38", "chr": "15", "accession": "NC_000015.10", "start": 89320883, "stop": 89320883, "display_start": 89320883, "display_stop": 89320883, "variant_length": 1, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current", "position_vcf": 89320883, "reference_allele_vcf": "T", "alternate_allele_vcf": "C"}, {"assembly": "GRCh37", "chr": "15", "accession": "NC_000015.9", "start": 89864114, "stop": 89864114, "display_start": 89864114, "display_stop": 89864114, "variant_length": 1, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous", "position_vcf": 89864114, "reference_allele_vcf": "T", "alternate_allele_vcf": "C"}], "measure_relationship": [{"type": "within multiple genes by overlap", "names": [{"value": {"type": "Preferred", "value": "DNA polymerase gamma, catalytic subunit"}}], "symbols": [{"value": {"type": "Preferred", "value": "POLG"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "15", "accession": "NC_000015.10", "start": 89316320, "stop": 89334824, "display_start": 89316320, "display_stop": 89334824, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "15", "accession": "NC_000015.9", "start": 89859535, "stop": 89878025, "display_start": 89859535, "display_stop": 89878025, "strand": "-", "variant_length": 18491, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "5428"}, {"db": "OMIM", "id": "174763", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:9179"}]}, {"type": "within multiple genes by overlap", "names": [{"value": {"type": "Preferred", "value": "POLG alternative reading frame"}}], "symbols": [{"value": {"type": "Preferred", "value": "POLGARF"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "15", "accession": "NC_000015.10", "start": 89316320, "stop": 89334824, "display_start": 89316320, "display_stop": 89334824, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "125316803"}, {"db": "HGNC", "id": "HGNC:56246"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "28812649"}], "type": "general"}], "xrefs": [{"db": "UniProtKB", "id": "P54098#VAR_012156"}, {"db": "OMIM", "id": "174763.0001", "type": "Allelic variant"}, {"db": "dbSNP", "id": "113994099", "type": "rs"}], "id": 28534}], "names": [{"value": {"type": "Preferred", "value": "NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)"}}, {"value": {"type": "Preferred", "value": "NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)"}}, {"value": {"type": "Preferred", "value": "NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)"}}, {"value": {"type": "Preferred", "value": "NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)"}}], "attributes": [{"type": "SubmitterVariantId", "value": "GDX:652758"}], "xrefs": [{"db": "ClinGen", "id": "CA341291"}], "id": 13495}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0024528"}]}, {"value": {"type": "Alternate", "value": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1"}, "xrefs": [{"db": "OMIM", "id": "157640", "type": "MIM"}]}], "symbols": [{"value": {"type": "Alternate", "value": "PEOA1"}, "xrefs": [{"db": "OMIM", "id": "157640", "type": "MIM"}]}], "attributes": [{"value": {"type": "public definition", "value": "POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called \"chronic progressive external ophthalmoplegia plus,\" or \"CPEO+\")."}, "xrefs": [{"db": "GeneReviews", "id": "NBK26471"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301382"}, {"source": "BookShelf", "value": "NBK1203"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "20301791"}, {"source": "BookShelf", "value": "NBK26471"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "PubMed", "value": "28749475"}, {"source": "pmc", "value": "7804217"}], "type": "general", "abbrev": "MMS, 2017"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0024528"}, {"db": "MedGen", "id": "C1834846"}, {"db": "OMIM", "id": "157640", "type": "MIM"}]}], "id": 3712}, "date_created": "2013-04-04", "date_last_updated": "2023-06-10", "id": 71942}, "record_status": "current", "title": "NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1", "clinvar_assertions": [{"id": 34688, "submission_id": {"local_key": "174763.0001_PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1", "submitter": "OMIM", "title": "POLG, TYR955CYS_PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1", "submitter_date": "2016-10-11"}, "clinvar_accession": {"acc": "SCV000034688", "version": 3, "type": "SCV", "date_updated": "2015-10-11", "date_created": "2013-04-04", "org_id": "3", "org_type": "primary", "org_category": "resource"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "date_last_evaluated": "2004-09-04"}], "external_ids": [{"db": "OMIM", "id": "174763.0001", "type": "Allelic variant"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human"}, "affected_status": "not provided"}, "methods": ["literature only"], "observed_data": [{"attribute": {"type": "Description", "value": "In affected members of a 3-generation Belgian pedigree with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions (157640), Van Goethem et al. (2001) identified a 2864A-G transition in the POLG gene, resulting in a tyr955-to-cys (Y955C) substitution in the polymerase B domain of the protein. The tyrosine at codon 955 is highly conserved. Segregation analysis showed complete cosegregation of Y955C with autosomal dominant PEO (maximum lod = 4.01 at theta = 0.0). The mutation was present in the 8 patients and 2 of 15 at-risk individuals; it was absent in 432 control chromosomes."}, "citations": [{"ids": [{"source": "PubMed", "value": "11431686"}]}], "xrefs": [{"db": "OMIM", "id": "157640", "type": "MIM"}]}, {"attribute": {"type": "Description", "value": "Lamantea et al. (2002) identified the heterozygous Y955C mutation in 5 unrelated families with adPEO. Four families were Italian and 1 was from Greece; 1 of the Italian families was originally reported by Zeviani et al. (1989) and Servidei et al. (1991). Microsatellite analysis did not identify a common disease haplotype in these families."}, "citations": [{"ids": [{"source": "PubMed", "value": "12210792"}]}, {"ids": [{"source": "PubMed", "value": "2725645"}]}, {"ids": [{"source": "PubMed", "value": "2067633"}]}]}, {"attribute": {"type": "Description", "value": "To analyze the effects of the Y955C mutation on the kinetics and fidelity of DNA synthesis, Ponamarev et al. (2002) expressed the Y955C mutant protein in Sf9 cells by site-directed mutagenesis. The Y955C enzyme retained a wildtype catalytic rate and demonstrated a 45-fold decrease in apparent binding affinity for the incoming nucleoside triphosphate, but the authors noted that mitochondrial matrix pools are usually high enough to overcome this reduced affinity. Fidelity studies showed that the Y955C derivative was 2-fold less accurate for basepair substitutions than wildtype, even with proofreading activity. Genetic inactivation of the exonuclease revealed a 10- to 100-fold increase in mismatch errors. Ponamarev et al. (2002) presented a model in which the enhanced error rate of the mutant enzyme promotes mtDNA deletions, as seen in PEO, via a slippage mechanism."}, "citations": [{"ids": [{"source": "PubMed", "value": "11897778"}]}]}, {"attribute": {"type": "Description", "value": "In affected members of 4 adPEO families, including the Swedish family originally reported by Lundberg (1962), Luoma et al. (2004) identified the heterozygous Y955C mutation."}, "citations": [{"ids": [{"source": "PubMed", "value": "14467368"}]}, {"ids": [{"source": "PubMed", "value": "15351195"}]}]}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Preferred", "value": "POLG, TYR955CYS"}}], "attributes": [{"type": "NonHGVS", "value": "TYR955CYS"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "POLG"}}]}], "xrefs": [{"db": "OMIM", "id": "174763.0001", "type": "Allelic variant"}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1"}}]}]}}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000498744", "version": 1, "type": "RCV", "date_updated": "2022-09-03", "date_created": "2017-08-20"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2017-03-27"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantChromosomes", "integer_value": 6}}]}], "measures": {"type": "Variant", "acc": "VCV000427717", "version": 1, "measures": [{"type": "duplication", "names": [{"value": {"type": "Preferred", "value": "NM_019098.4(CNGB3):c.852+4013_903+1698dup"}}], "attributes": [{"type": "HGVS, genomic, top level", "value": "NC_000008.11:g.86652314_86662912dup", "integer_value": 38}, {"type": "HGVS, previous", "value": "NM_019098.4:c.852+4013_903+1698dup"}], "cytogenic_locations": ["8q21.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "8", "accession": "NC_000008.11", "start": 86652314, "stop": 86662912, "display_start": 86652314, "display_stop": 86662912, "variant_length": 10599, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "cyclic nucleotide gated channel subunit beta 3"}}], "symbols": [{"value": {"type": "Preferred", "value": "CNGB3"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "8", "accession": "NC_000008.11", "start": 86574179, "stop": 86743634, "display_start": 86574179, "display_stop": 86743634, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "8", "accession": "NC_000008.10", "start": 87586162, "stop": 87755902, "display_start": 87586162, "display_stop": 87755902, "strand": "-", "variant_length": 169741, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "54714"}, {"db": "OMIM", "id": "605080", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:2153"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "28795510"}], "type": "general"}], "id": 417121}], "names": [{"value": {"type": "Preferred", "value": "NM_019098.4(CNGB3):c.852+4013_903+1698dup"}}], "id": 427717}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Achromatopsia 3"}, "xrefs": [{"db": "Genetic Alliance", "id": "Achromatopsia+3/117"}, {"db": "MONDO", "id": "MONDO:0009875"}]}, {"value": {"type": "Alternate", "value": "ROD MONOCHROMACY 1"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "ROD MONOCHROMATISM 1"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Pingelapese blindness"}}, {"value": {"type": "Alternate", "value": "Achromatopsia with myopia"}}, {"value": {"type": "Alternate", "value": "Total colorblindness with myopia"}}, {"value": {"type": "Alternate", "value": "ACHM1 (formerly)"}}, {"value": {"type": "Alternate", "value": "Rod monochromatism 1 (formerly)"}}, {"value": {"type": "Alternate", "value": "Rod monochromacy 1 (formerly)"}}, {"value": {"type": "Alternate", "value": "RMCH1 (formerly)"}}], "symbols": [{"value": {"type": "Preferred", "value": "ACHM3"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "ACHM1"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "RMCH1"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "CNGB3"}}], "attributes": [{"value": {"type": "public definition", "value": "Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1418"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "9650"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301591"}, {"source": "BookShelf", "value": "NBK1418"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "pmc", "value": "3110037"}], "type": "Translational/Evidence-based", "abbrev": "EuroGentest, 2011"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0009875"}, {"db": "MedGen", "id": "C1849792"}, {"db": "Orphanet", "id": "49382"}, {"db": "OMIM", "id": "262300", "type": "MIM"}]}], "id": 1447}, "date_created": "2017-08-20", "date_last_updated": "2022-09-03", "id": 1146329}, "record_status": "current", "title": "NM_019098.4(CNGB3):c.852+4013_903+1698dup AND Achromatopsia 3", "clinvar_assertions": [{"id": 1127643, "submission_id": {"local_key": "NC_000008.11:g.86652314_86662912dup|ACHM3", "submitter": "Molecular Genetics Laboratory, Institute for Ophthalmic Research", "submitted_assembly": "GRCh38", "submitter_date": "2017-04-06"}, "clinvar_accession": {"acc": "SCV000575866", "version": 1, "type": "SCV", "date_updated": "2017-08-20", "date_created": "2017-08-20", "org_id": "22949", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "citations": [{"ids": [{"source": "PubMed", "value": "28795510"}], "type": "general"}], "date_last_evaluated": "2017-03-27"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantChromosomes", "integer_value": 6}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "names": [{"value": {"type": "Alternate", "value": "NM_019098.4:c.852+4013_903+1698dup"}}], "attributes": [{"type": "HGVS", "value": "NC_000008.11:g.86652314_86662912dup"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "CNGB3"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "ACHM3"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "28795510"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "28795510"}], "type": "general"}], "comments": [{"text": "Tandem duplication of exon 7"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000498740", "version": 1, "type": "RCV", "date_updated": "2023-06-17", "date_created": "2017-08-20"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2017-03-27"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantChromosomes", "integer_value": 3}}]}], "measures": {"type": "Variant", "acc": "VCV000430672", "version": 1, "measures": [{"type": "insertion", "names": [{"value": {"type": "Preferred", "value": "NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978]"}}], "attributes": [{"type": "HGVS, genomic, top level", "value": "NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978]", "integer_value": 38}], "cytogenic_locations": ["8q21.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "8", "accession": "NC_000008.11", "start": 86688947, "stop": 86688948, "display_start": 86688947, "display_stop": 86688948, "variant_length": 36978, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "cyclic nucleotide gated channel subunit beta 3"}}], "symbols": [{"value": {"type": "Preferred", "value": "CNGB3"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "8", "accession": "NC_000008.11", "start": 86574179, "stop": 86743634, "display_start": 86574179, "display_stop": 86743634, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "8", "accession": "NC_000008.10", "start": 87586162, "stop": 87755902, "display_start": 87586162, "display_stop": 87755902, "strand": "-", "variant_length": 169741, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "54714"}, {"db": "OMIM", "id": "605080", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:2153"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "28795510"}], "type": "general"}], "id": 424200}], "names": [{"value": {"type": "Preferred", "value": "NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978]"}}], "id": 430672}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Achromatopsia 3"}, "xrefs": [{"db": "Genetic Alliance", "id": "Achromatopsia+3/117"}, {"db": "MONDO", "id": "MONDO:0009875"}]}, {"value": {"type": "Alternate", "value": "ROD MONOCHROMACY 1"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "ROD MONOCHROMATISM 1"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Pingelapese blindness"}}, {"value": {"type": "Alternate", "value": "Achromatopsia with myopia"}}, {"value": {"type": "Alternate", "value": "Total colorblindness with myopia"}}, {"value": {"type": "Alternate", "value": "ACHM1 (formerly)"}}, {"value": {"type": "Alternate", "value": "Rod monochromatism 1 (formerly)"}}, {"value": {"type": "Alternate", "value": "Rod monochromacy 1 (formerly)"}}, {"value": {"type": "Alternate", "value": "RMCH1 (formerly)"}}], "symbols": [{"value": {"type": "Preferred", "value": "ACHM3"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "ACHM1"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "RMCH1"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "CNGB3"}}], "attributes": [{"value": {"type": "public definition", "value": "Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1418"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "9650"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301591"}, {"source": "BookShelf", "value": "NBK1418"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "pmc", "value": "3110037"}], "type": "Translational/Evidence-based", "abbrev": "EuroGentest, 2011"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0009875"}, {"db": "MedGen", "id": "C1849792"}, {"db": "Orphanet", "id": "49382"}, {"db": "OMIM", "id": "262300", "type": "MIM"}]}], "id": 1447}, "date_created": "2017-08-20", "date_last_updated": "2023-06-17", "id": 1146325}, "record_status": "current", "title": "NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978] AND Achromatopsia 3", "clinvar_assertions": [{"id": 1127640, "submission_id": {"local_key": "NC_000008.11:g.86688947_86688948insMF045863.1g.1_36978|ACHM3", "submitter": "Molecular Genetics Laboratory, Institute for Ophthalmic Research", "submitted_assembly": "GRCh38", "submitter_date": "2017-04-06"}, "clinvar_accession": {"acc": "SCV000575863", "version": 1, "type": "SCV", "date_updated": "2017-08-20", "date_created": "2017-08-20", "org_id": "22949", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "citations": [{"ids": [{"source": "PubMed", "value": "28795510"}], "type": "general"}], "date_last_evaluated": "2017-03-27"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantChromosomes", "integer_value": 3}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NC_000008.11:g.86688947_86688948insMF045863.1g.1_36978"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "CNGB3"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "ACHM3"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "28795510"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "28795510"}], "type": "general"}], "comments": [{"text": "Tandem duplication of exons 4-7"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000497553", "version": 1, "type": "RCV", "date_updated": "2023-06-17", "date_created": "2017-08-20"}, "record_status": "current", "clinical_significance": {"review_status": "no assertion criteria provided", "description": "pathogenic", "date_last_evaluated": "2017-03-27"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantChromosomes", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV000430673", "version": 1, "measures": [{"type": "insertion", "names": [{"value": {"type": "Preferred", "value": "NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770]"}}], "attributes": [{"type": "HGVS, genomic, top level", "value": "NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770]", "integer_value": 38}], "cytogenic_locations": ["8q21.3"], "sequence_locations": [{"assembly": "GRCh38", "chr": "8", "accession": "NC_000008.11", "start": 86711345, "stop": 86711346, "display_start": 86711345, "display_stop": 86711346, "variant_length": 98770, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "measure_relationship": [{"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "cyclic nucleotide gated channel subunit beta 3"}}], "symbols": [{"value": {"type": "Preferred", "value": "CNGB3"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "8", "accession": "NC_000008.11", "start": 86574179, "stop": 86743634, "display_start": 86574179, "display_stop": 86743634, "strand": "-", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "8", "accession": "NC_000008.10", "start": 87586162, "stop": 87755902, "display_start": 87586162, "display_stop": 87755902, "strand": "-", "variant_length": 169741, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "54714"}, {"db": "OMIM", "id": "605080", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:2153"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "28795510"}], "type": "general"}], "id": 424201}], "names": [{"value": {"type": "Preferred", "value": "NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770]"}}], "id": 430673}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Achromatopsia 3"}, "xrefs": [{"db": "Genetic Alliance", "id": "Achromatopsia+3/117"}, {"db": "MONDO", "id": "MONDO:0009875"}]}, {"value": {"type": "Alternate", "value": "ROD MONOCHROMACY 1"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "ROD MONOCHROMATISM 1"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "Pingelapese blindness"}}, {"value": {"type": "Alternate", "value": "Achromatopsia with myopia"}}, {"value": {"type": "Alternate", "value": "Total colorblindness with myopia"}}, {"value": {"type": "Alternate", "value": "ACHM1 (formerly)"}}, {"value": {"type": "Alternate", "value": "Rod monochromatism 1 (formerly)"}}, {"value": {"type": "Alternate", "value": "Rod monochromacy 1 (formerly)"}}, {"value": {"type": "Alternate", "value": "RMCH1 (formerly)"}}], "symbols": [{"value": {"type": "Preferred", "value": "ACHM3"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "ACHM1"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "RMCH1"}, "xrefs": [{"db": "OMIM", "id": "262300", "type": "MIM"}]}, {"value": {"type": "Alternate", "value": "CNGB3"}}], "attributes": [{"value": {"type": "public definition", "value": "Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography."}, "xrefs": [{"db": "GeneReviews", "id": "NBK1418"}]}, {"value": {"type": "GARD id"}, "xrefs": [{"db": "Office of Rare Diseases", "id": "9650"}]}], "citations": [{"ids": [{"source": "PubMed", "value": "20301591"}, {"source": "BookShelf", "value": "NBK1418"}], "type": "review", "abbrev": "GeneReviews"}, {"ids": [{"source": "pmc", "value": "3110037"}], "type": "Translational/Evidence-based", "abbrev": "EuroGentest, 2011"}], "xrefs": [{"db": "MONDO", "id": "MONDO:0009875"}, {"db": "MedGen", "id": "C1849792"}, {"db": "Orphanet", "id": "49382"}, {"db": "OMIM", "id": "262300", "type": "MIM"}]}], "id": 1447}, "date_created": "2017-08-20", "date_last_updated": "2023-06-17", "id": 1145138}, "record_status": "current", "title": "NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770] AND Achromatopsia 3", "clinvar_assertions": [{"id": 1127641, "submission_id": {"local_key": "NC_000008.11:g.86711345_86711346insMF045864.2g.1_98770|ACHM3", "submitter": "Molecular Genetics Laboratory, Institute for Ophthalmic Research", "submitted_assembly": "GRCh38", "submitter_date": "2017-04-06"}, "clinvar_accession": {"acc": "SCV000575864", "version": 1, "type": "SCV", "date_updated": "2017-08-20", "date_created": "2017-08-20", "org_id": "22949", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "no assertion criteria provided", "descriptions": ["pathogenic"], "citations": [{"ids": [{"source": "PubMed", "value": "28795510"}], "type": "general"}], "date_last_evaluated": "2017-03-27"}], "observed_in": [{"sample": {"origin": "germline", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantChromosomes", "integer_value": 1}}]}], "measures": {"type": "Variant", "measures": [{"type": "variation", "attributes": [{"type": "HGVS", "value": "NC_000008.11:g.86711345_86711346insMF045864.2g.1_98770"}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "CNGB3"}}]}]}]}, "traits": {"type": "Disease", "traits": [{"names": [{"value": {"type": "Preferred", "value": "ACHM3"}}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "28795510"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "28795510"}], "type": "general"}], "comments": [{"text": "Tandem duplication of exons 4-13"}]}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV002468904", "version": 1, "type": "RCV", "date_updated": "2023-03-26", "date_created": "2022-12-24"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "pathogenic", "date_last_evaluated": "2022-12-20"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "de novo", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}, {"attribute": {"type": "NumFamiliesWithVariant", "integer_value": 1}}]}], "measures": {"type": "Variant", "acc": "VCV001804166", "version": 1, "measures": [{"type": "translocation", "names": [{"value": {"type": "Preferred", "value": "t(7;10)(q22.1;q26.3)"}}], "attributes": [{"type": "Location", "value": "NM_001202543.2:exon 11"}], "cytogenic_locations": ["10q26.3", "7q22.1"], "sequence_locations": [{"assembly": "GRCh38", "chr": "10", "accession": "NC_000010.11", "start": 129162520, "stop": 129249183, "display_start": 129162520, "display_stop": 129249183, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 102178523, "stop": 102225311, "display_start": 102178523, "display_stop": 102225311, "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "measure_relationship": [{"type": "genes overlapped by variant", "names": [{"value": {"type": "Preferred", "value": "CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:101841732-101842931"}}], "symbols": [{"value": {"type": "Preferred", "value": "LOC126860127"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 102198452, "stop": 102199651, "display_start": 102198452, "display_stop": 102199651, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}], "xrefs": [{"db": "Gene", "id": "126860127"}]}, {"type": "within single gene", "names": [{"value": {"type": "Preferred", "value": "cut like homeobox 1"}}], "symbols": [{"value": {"type": "Preferred", "value": "CUX1"}}], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "accession": "NC_000007.14", "start": 101816007, "stop": 102283958, "display_start": 101816007, "display_stop": 102283958, "strand": "+", "assembly_accession_version": "GCF_000001405.38", "assembly_status": "current"}, {"assembly": "GRCh37", "chr": "7", "accession": "NC_000007.13", "start": 101459183, "stop": 101927249, "display_start": 101459183, "display_stop": 101927249, "strand": "+", "variant_length": 468067, "assembly_accession_version": "GCF_000001405.25", "assembly_status": "previous"}], "xrefs": [{"db": "Gene", "id": "1523"}, {"db": "OMIM", "id": "116896", "type": "MIM"}, {"db": "HGNC", "id": "HGNC:2557"}]}], "id": 1861187}], "names": [{"value": {"type": "Preferred", "value": "t(7;10)(q22.1;q26.3)"}}], "id": 1804166}, "traits": {"type": "Disease", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Global developmental delay with or without impaired intellectual development"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0032680"}]}], "symbols": [{"value": {"type": "Alternate", "value": "GDDI"}, "xrefs": [{"db": "OMIM", "id": "618330", "type": "MIM"}]}], "xrefs": [{"db": "MONDO", "id": "MONDO:0032680"}, {"db": "MedGen", "id": "C5193032"}, {"db": "OMIM", "id": "618330", "type": "MIM"}]}], "id": 46407}, "date_created": "2022-12-24", "date_last_updated": "2023-03-26", "id": 5409656}, "record_status": "current", "title": "t(7;10)(q22.1;q26.3) AND Global developmental delay with or without impaired intellectual development", "clinvar_assertions": [{"id": 5409364, "submission_id": {"local_key": "NM_001202543.2:exon 11|OMIM:618330", "submitter": "Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford", "submitted_assembly": "GRCh38", "submitter_date": "2022-12-20"}, "clinvar_accession": {"acc": "SCV002765142", "version": 1, "type": "SCV", "date_updated": "2022-12-24", "date_created": "2022-12-24", "org_id": "506645", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["pathogenic"], "comments": [{"text": "De novo translocation with small deletions at each breakpoint. The chromosome 7 breakpoint disrupts CUX1 which is a gene with a pLI score of 1.000 according to gnomAD database (v2.1.1)"}], "date_last_evaluated": "2022-12-20"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "ACMG Guidelines, 2015"}, "citations": [{"ids": [{"source": "PubMed", "value": "25741868"}]}]}], "observed_in": [{"sample": {"origin": "de novo", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "family_data": {"num_families_with_variant": 1}}, "methods": ["research"], "observed_data": [{"attribute": {"type": "VariantAlleles", "integer_value": 1}}]}], "measures": {"type": "Variant", "measures": [{"type": "translocation", "names": [{"value": {"type": "Preferred", "value": "t(7;10)(q22.1;q26.3)"}}], "attributes": [{"type": "Location", "value": "NM_001202543.2:exon 11"}], "cytogenic_locations": ["t(7;10)(q22.1;q26.3)"], "sequence_locations": [{"assembly": "GRCh38", "chr": "7", "start": 102178523, "stop": 102225311}, {"assembly": "GRCh38", "chr": "10", "start": 129162520, "stop": 129249183}], "measure_relationship": [{"type": "variant in gene", "symbols": [{"value": {"type": "Preferred", "value": "CUX1"}}]}]}], "comments": [{"text": "Translocation with 47kb loss on chr7 and 87kb loss on chr10"}]}, "traits": {"type": "Disease", "traits": [{"xrefs": [{"db": "OMIM", "id": "618330", "type": "MIM"}]}]}, "study_name": "100,000 Genomes Project"}]} -{"reference_clinvar_assertion": {"clinvar_accession": {"acc": "RCV000258509", "version": 2, "type": "RCV", "date_updated": "2023-09-09", "date_created": "2016-11-13"}, "record_status": "current", "clinical_significance": {"review_status": "criteria provided, single submitter", "description": "uncertain significance", "date_last_evaluated": "2016-08-20"}, "assertion": "variation to disease", "observed_in": [{"sample": {"origin": "maternal", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes"}, "methods": ["research"], "observed_data": [{"attribute": {"type": "FamilyHistory", "value": "yes"}}, {"attribute": {"type": "Description", "value": "not provided"}}]}], "measures": {"type": "Variant", "acc": "VCV000267936", "version": 1, "measures": [{"type": "translocation", "names": [{"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}], "cytogenic_locations": ["12q15", "14q13"], "citations": [{"ids": [{"source": "PubMed", "value": "27841880"}], "type": "general"}], "id": 263312}], "names": [{"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}, {"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}, {"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}, {"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}, {"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}, {"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}, {"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}, {"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}, {"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}, {"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}, {"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}, {"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}, {"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}, {"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}, {"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}], "id": 267936}, "traits": {"type": "Finding", "traits": [{"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Male infertility"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0003251"}, {"db": "MONDO", "id": "MONDO:0005372"}, {"db": "SNOMED CT", "id": "2904007"}]}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MONDO", "id": "MONDO:0005372"}, {"db": "MedGen", "id": "C0021364"}, {"db": "Human Phenotype Ontology", "id": "HP:0003251", "type": "primary"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Visual impairment"}, "xrefs": [{"db": "Genetic Alliance", "id": "Visual+Impairment/7403"}, {"db": "Human Phenotype Ontology", "id": "HP:0000505"}, {"db": "SNOMED CT", "id": "397540003"}]}, {"value": {"type": "Alternate", "value": "Impaired vision"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0000505"}]}, {"value": {"type": "Alternate", "value": "vision problems"}}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MedGen", "id": "C3665347"}, {"db": "Human Phenotype Ontology", "id": "HP:0000505", "type": "primary"}, {"db": "Human Phenotype Ontology", "id": "HP:0000516", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0000566", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0007860", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0007983", "type": "secondary"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Upslanted palpebral fissure"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0000582"}]}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MedGen", "id": "C0423109"}, {"db": "Human Phenotype Ontology", "id": "HP:0000582", "type": "primary"}]}, {"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Syndactyly"}, "xrefs": [{"db": "MONDO", "id": "MONDO:0021002"}, {"db": "SNOMED CT", "id": "373413006"}]}, {"value": {"type": "Alternate", "value": "Webbed fingers or toes"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0001159"}]}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MONDO", "id": "MONDO:0021002"}, {"db": "MedGen", "id": "C0039075"}, {"db": "Human Phenotype Ontology", "id": "HP:0001159", "type": "primary"}, {"db": "Human Phenotype Ontology", "id": "HP:0001206", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0001236", "type": "secondary"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Microtia"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0008551"}, {"db": "MONDO", "id": "MONDO:0010920"}]}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MedGen", "id": "C0152423"}, {"db": "Human Phenotype Ontology", "id": "HP:0008551", "type": "primary"}, {"db": "Human Phenotype Ontology", "id": "HP:0000393", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0000409", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0008550", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0008618", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0008621", "type": "secondary"}]}, {"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Azoospermia"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0000027"}, {"db": "MONDO", "id": "MONDO:0004983"}, {"db": "MONDO", "id": "MONDO:0100459"}, {"db": "SNOMED CT", "id": "425558002"}]}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MONDO", "id": "MONDO:0100459"}, {"db": "MedGen", "id": "C0004509"}, {"db": "Human Phenotype Ontology", "id": "HP:0000027", "type": "primary"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Abnormal facial shape"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0001999"}]}, {"value": {"type": "Alternate", "value": "Dysmorphic facies"}, "xrefs": [{"db": "SNOMED CT", "id": "248200007"}]}, {"value": {"type": "Alternate", "value": "Dysmorphic facial features"}}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MedGen", "id": "C0424503"}, {"db": "Human Phenotype Ontology", "id": "HP:0001999", "type": "primary"}, {"db": "Human Phenotype Ontology", "id": "HP:0002004", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0002260", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0004643", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0004649", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0004652", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0004655", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0004675", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0005124", "type": "secondary"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Delayed speech and language development"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0000750"}]}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MedGen", "id": "C0454644"}, {"db": "Human Phenotype Ontology", "id": "HP:0000750", "type": "primary"}, {"db": "Human Phenotype Ontology", "id": "HP:0002116", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0002117", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0002336", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0002399", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0002498", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0006936", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0007004", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0007127", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0007170", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0007172", "type": "secondary"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Facial asymmetry"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0000324"}]}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MedGen", "id": "C1306710"}, {"db": "Human Phenotype Ontology", "id": "HP:0000324", "type": "primary"}, {"db": "Human Phenotype Ontology", "id": "HP:0003775", "type": "secondary"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Aphasia"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0002381"}, {"db": "MONDO", "id": "MONDO:0000598"}]}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MONDO", "id": "MONDO:0000598"}, {"db": "MedGen", "id": "C0003537"}, {"db": "Human Phenotype Ontology", "id": "HP:0002381", "type": "primary"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Delayed fine motor development"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0010862"}]}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MedGen", "id": "C4023681"}, {"db": "Human Phenotype Ontology", "id": "HP:0010862", "type": "primary"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Monocular strabismus"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0010877"}]}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MedGen", "id": "C4023678"}, {"db": "Human Phenotype Ontology", "id": "HP:0010877", "type": "primary"}]}, {"type": "Finding", "names": [{"value": {"type": "Preferred", "value": "Varicocele"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0012871"}, {"db": "MONDO", "id": "MONDO:0001498"}]}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MONDO", "id": "MONDO:0001498"}, {"db": "MedGen", "id": "C0042341"}, {"db": "Human Phenotype Ontology", "id": "HP:0012871", "type": "primary"}]}, {"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Attention deficit hyperactivity disorder"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0007018"}, {"db": "SNOMED CT", "id": "406506008"}]}], "symbols": [{"value": {"type": "Preferred", "value": "ADHD"}, "xrefs": [{"db": "OMIM", "id": "143465", "type": "MIM"}]}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MONDO", "id": "MONDO:0007743"}, {"db": "MedGen", "id": "C1263846"}, {"db": "Human Phenotype Ontology", "id": "HP:0007018", "type": "primary"}, {"db": "Human Phenotype Ontology", "id": "HP:0001576", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0001577", "type": "secondary"}, {"db": "Human Phenotype Ontology", "id": "HP:0006973", "type": "secondary"}]}, {"type": "Disease", "names": [{"value": {"type": "Preferred", "value": "Oligozoospermia"}}, {"value": {"type": "Alternate", "value": "Oligospermia"}, "xrefs": [{"db": "Human Phenotype Ontology", "id": "HP:0000798"}, {"db": "MONDO", "id": "MONDO:0001913"}]}], "trait_relationships": [{"type": "Finding member", "id": 890}], "xrefs": [{"db": "MONDO", "id": "MONDO:0001913"}, {"db": "MeSH", "id": "D009845"}, {"db": "MedGen", "id": "C0028960"}, {"db": "Human Phenotype Ontology", "id": "HP:0000798", "type": "primary"}]}], "id": 33129}, "date_created": "2016-11-13", "date_last_updated": "2023-09-09", "id": 628062}, "record_status": "current", "title": "46;XY;t(12;14)(q15;q13)mat AND multiple conditions", "clinvar_assertions": [{"id": 627922, "submission_id": {"local_key": "DGAP296|HPO:HP:0003251;HP:0000027;HP:0000798;HP:0012871;HP:0010877;HP:0010862;HP:0000505;HP:0007018;HP:0000750;HP:0002381;HP:0001999;HP:0000324;HP:0000582;HP:0008551;HP:0001159", "submitter": "Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital", "submitted_assembly": "GRCh37", "submitter_date": "2016-09-23"}, "clinvar_accession": {"acc": "SCV000320883", "version": 1, "type": "SCV", "date_updated": "2016-11-13", "date_created": "2016-11-13", "org_id": "505929", "org_type": "primary", "org_category": "laboratory"}, "assertion_type": "variation to disease", "record_status": "current", "clinical_significance": [{"review_status": "criteria provided, single submitter", "descriptions": ["uncertain significance"], "citations": [{"ids": [{"source": "PubMed", "value": "27841880"}], "type": "general"}], "date_last_evaluated": "2016-08-20"}], "external_ids": [{"db": "Talkowski Laboratory, Center for Human Genetic Research", "id": "DGAP296"}], "attributes": [{"attribute": {"type": "AssertionMethod", "value": "Talkowski Lab Assertion Criteria for BCA 2016"}, "citations": [{"type": "general", "url": "https://submit.ncbi.nlm.nih.gov/ft/byid/x90lyabz/talkowski_lab_assertion_criteria_for_bca_2016.pdf", "citation_text": "Talkowski_Lab_Assertion_Criteria_for_BCA_2016.pdf"}]}], "observed_in": [{"sample": {"origin": "maternal", "species": {"value": "human", "taxonomy_id": 9606}, "affected_status": "yes", "gender": "male", "family_data": {"family_history": "yes"}}, "methods": ["research"], "observed_data": [{"attribute": {"type": "Description", "value": "not provided"}}], "comments": [{"text": "Translocation segregates with eye anomaly in the family", "type": "public"}]}], "measures": {"type": "Variant", "measures": [{"type": "translocation", "names": [{"value": {"type": "Preferred", "value": "46;XY;t(12;14)(q15;q13)mat"}}]}]}, "traits": {"type": "Finding", "traits": [{"xrefs": [{"db": "HP", "id": "HP:0003251"}]}, {"xrefs": [{"db": "HP", "id": "HP:0000027"}]}, {"xrefs": [{"db": "HP", "id": "HP:0000798"}]}, {"xrefs": [{"db": "HP", "id": "HP:0012871"}]}, {"xrefs": [{"db": "HP", "id": "HP:0010877"}]}, {"xrefs": [{"db": "HP", "id": "HP:0010862"}]}, {"xrefs": [{"db": "HP", "id": "HP:0000505"}]}, {"xrefs": [{"db": "HP", "id": "HP:0007018"}]}, {"xrefs": [{"db": "HP", "id": "HP:0000750"}]}, {"xrefs": [{"db": "HP", "id": "HP:0002381"}]}, {"xrefs": [{"db": "HP", "id": "HP:0001999"}]}, {"xrefs": [{"db": "HP", "id": "HP:0000324"}]}, {"xrefs": [{"db": "HP", "id": "HP:0000582"}]}, {"xrefs": [{"db": "HP", "id": "HP:0008551"}]}, {"xrefs": [{"db": "HP", "id": "HP:0001159"}]}]}, "citations": [{"ids": [{"source": "PubMed", "value": "27841880"}], "type": "general"}, {"ids": [{"source": "PubMed", "value": "27841880"}], "type": "general"}], "study_description": "Clinical interpretation of 248 balanced chromosomal rearrangements mapped at nucleotide resolution using sequencing in subjects with congenital anomalies, based on initially provided karyotpes."}]} +{"accession": {"accession": "VCV000000536", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000000566", "version": 4}, "title": "NM_001142800.1(EYS):c.1767-24596_2023+238135del AND Retinitis pigmentosa 25", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2008-11-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_001142800.1(EYS):c.1767-24596_2023+238135del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2008-11-01T00:00:00Z", "dateCreated": "2017-08-13T00:00:00Z", "mostRecentSubmission": "2017-08-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "start": 65767621, "stop": 66030608, "displayStart": 65767621, "displayStop": 66030608, "variantLength": 262988}, "hgncIds": ["HGNC:21555"]} +{"accession": {"accession": "VCV000000174", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000000197", "version": 3}, "title": "NC_000010.11:g.(124404664_124404669)_(124404736_124405741)del AND Ornithine aminotransferase deficiency", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "1992-06-25T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000010.11:g.(124404664_124404669)_(124404736_124405741)del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "1992-06-25T00:00:00Z", "dateCreated": "2018-02-04T00:00:00Z", "mostRecentSubmission": "2018-02-04T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "outerStart": 126093233, "innerStart": 126093238, "innerStop": 126093305, "outerStop": 126094310, "displayStart": 126093233, "displayStop": 126094310, "variantLength": 68}, "hgncIds": ["HGNC:8091"]} +{"accession": {"accession": "VCV000002119", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000002200", "version": 3}, "title": "NM_003477.3(PDHX):c.1183-3088_1247+760del AND Pyruvate dehydrogenase E3-binding protein deficiency", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2006-04-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_003477.3(PDHX):c.1183-3088_1247+760del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2006-04-01T00:00:00Z", "dateCreated": "2015-01-10T00:00:00Z", "mostRecentSubmission": "2015-01-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "start": 35010771, "stop": 35014683, "displayStart": 35010771, "displayStop": 35014683, "variantLength": 3913, "positionVcf": 35010770, "referenceAlleleVcf": "GACCACTGTCATATATTTATGTCTTTGTCTTAAGTGTCCTTATGCGGCACATGACTGCATGTATAGAGTTCAGTACTATCTGCCATTTCAGGCACCTACTGTGGGTCTTTGAAGTATCCCCTGCAGATAAGGGGGGACTACTGTATGCAACTGGGAGAAAAAAAGGGTTAAGAAAGAAGAGACCTGAGTCAAACGGGAGAGTACTCTGCCAAAGAAGCAGTGAAGATTCCCCGAGGAATGTGAGGTTGTGGTCTTAGCAAGTAGGCAGTGGATAAGAGAACCTGCAGCAAAGAAACCAAGGCTCTCTACCTGGTGAGGCAGGAGTAGTCTTTTTGAAAAGACTGTGGGATCATGGACAGGTTGAGCTCTGGATTCTCACTAAGAGACATACTATCCAGTACACACTTCCCTCTGATCGTCACTTGGCTGGCTTTTTTTCATCATTGGTTTCTCAGTTCAGTTGCTAATTTCTTAGGCCTTCTGCAGCTTCTGTAGCTGAAATAGTTTCCTAACACTCTTTATCTCATTACCCTGTTTTATTGTCTTCATATGGTTTATTAGTCTTTGAAATTACCTTGTTTATTTATTTGTTCACCCTTCTGTGTTCCCTACTGTCTGATGTTCACTGTCCATTGCCATTTATCTAATTCTAGAAGAGTGCTTGGGATACAGTAGTTGCTTGGTGAATTTATTTTAAAACAAATTTCAGTAAAACTTGTTTCATTGAAATTAATTTTTCAAGAGTTTGTGGCTCTCTGCAGATTCATCCATGAACCCCAAGTTAAGAATATCTGTACTACGCATTTACTTCTTGACCCTCTGTAATCCCAAGGATGCCACTGTGGGGGCTGTAGGCATACCCCAGCCAAGTTCAAGTTGGTATTCCTTGAATAAAGTAATGTAGTGACACACCTTGGATCCTGTGTTATTCTTAATTCTTCATTACTTATAACAGTATTAAAAGGCAGAGGCATAGTTTACCTTATAAGTACCCAGTAAATTTTTTTAATGAATAGCAAGGCATTCGATGTATTGTAGAAATATTTAGTGGTCATTTTTTATTCTTTCAGCTGGATGCTTCAGGTAACATGTACTTTGATTTTGAGTCCACATTGCCAGGAGATCCCAGTGATGATTACAAATTTATAAAACCAACGATCCTTCTCAGATTCCATACCTATTTCAGACTTACTAGAGTTCACTGACAGGAATTTCCTGTTGATGTATTTAGGATCTACAGAGTTTTTGTTTTTAGTATGTGTGCGTGCAATCTACTTATTAAAGTGAGTTTTTTTCATTTGTGGTAATTGTGTGGTAGTTCATCAGGATATGTTGAGATCATCTGCCTTTAAAAAATGCCTTTTAAAGTTCATATATGTGTCTTTTCAAATCATGTGAACAATTACATTGCTTAAGGGAGGAAAAATGCTTTTATAGATTATTCTCTCTCCCGTTATTCCAAGAACTGTATAAGTCAAAATTCATCTCATTTTTTACCTTGAATCCAAATAGTTTTATAAATAACCACATCCAAATAGCATACACCTGTAATTGTTTCTGTTGGCAGTACGTTACAGTAATGTGTTTTTAGATTTTTGATATTTTTAAAGACTTTCAATTTTAAAAAATTAAATCATCTATGAATTAAAGTTAGTTATCAACTGTGATTGTAATAGTGCCTATGTTGCCTATGTAATACAAAATATTAAGTAAATTCCACATTTATTTTATCTACCCAAATGACAGTGACCTCATTTTTCTGTACCCTTCCTCTTAAGTTAATTCGTTATTAATTTTTTATATATGATGACTCAACCTCTGTTCCCTTGCTTTTAAGCACTGAAAAATAAAAATTAACAGAAATGTGGTTAATTCCAAGTACAAGTGAGAGGAAAATTTAACTAATATGTCATCTGTCTTGTCTTCTGTAAGATTTTTAGAAATCGCTGTGGTCAAGAGTGATATGAATCAAGTACATCCTTATATTCCTTGTGGCAGTGTAAATTGGACTAGCTCATTCAGGAAATGATTTAGCTATAGGATCAAGAACCAAAAGAAGTCTATTCTCTAGGGCACTATAATTCCACTTCTGAAAATTTACCTGAAATAATTCAGAAGAAACCGTGAACCAAATTATAACACTGGGAAATAACCAAGTAAATTAGGCAGGTGCAGTCTTTAGGAACAAACATTAAAAAATCATTTCTGAAGGCTGACAACACAGAAGATACATATAATATTGAACAATTAAATATAAAATTTATTTTTTATAACCATTGTGTGGGGTTGAGATTGTGGATAAAGATGAAGCAAACTCTGAAAGATAAAAACGGAATGTTGGTTGTGGGATTGTGGGTATACTACTTTGGTTGCCATTGGATAATTTATTTAAAACACACAGATTGGCCAGGCATGGTGGCTCATACCTGTAATCCCACCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGTTCAGGAGTTGGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGCGTGGCGGTGGGTGCCTGAAATCTCAGCTACTCAGGACGCTGAGGCAAGAGAATTGCTTGAACCTGGGAGATGGAGGTTGCAATAGGCCATAATCACACCACTGCACTCCAGCCAGGGCAACAGAGTGAGACTTCTCAAAAAAAAAAAAAAAAAAAAAACTAAAAAACACTAGATTGACCAGAATGGATTCTTGTATTTTTTTTCTTACCATAAAGTTTTATAGGCAAAATAGAAAATTTCATTTTGCATATAGGAAACTCTAAAGCATTTTGCATAATAATTGATGGTACACAGGGTAATTCCCACATTTGAAAAATTGTTAAAGGAAGTGATTTTTCTAGAGTTTTGATTAACAGCTTTAGTTTCTTGAATTATCTGTGCTCTTGTTTGTTCTTATAATTAGAGAAAATTATTTTTATATAGGTAACAAAATCAAATCAAGGCATATCAGAGATGAGAGTATATGATGTACAAATATTTCAAGTGACAAGATCAACTGTATAACATTTTGTTGGTTGTCCTATTCTGTTTGTATTTTTCTCAGGCTCTATCAAAGAAAGCAAGAGATGGAAAATTGTTGCCTGAAGAATACCAAGGAGGATCTTTTAGGTAAAATTTAAACTCTTAATTATCCATAGCATCAAACAGATAGATGTAAGACTTATAAAGTCCCTGTCAGCCTTTCATTTATCTGAAATATTTTTTAAAATTTAAGCTAAAAATACTTTATTTAGACAATAGAATATCTGAAAAAATTCTTCAGACTAGTCAGGCTTTCATATTAAAGCTAGTAGGAACCTATTAGTGTTGAACTAAACGTTCGTTGGACATTGACTAACATGGAATGATAAATATTATGTATTCTTTAGTATCTGACCCACCCCCAATATTAATGTCTGTAATATTATATTGCTATGTGAAACAACCACTTATTTATTATTGCAGCATATAATATTCTATTGTATAAATATACCAGAATTCATTTTACTGTTGGTGGGCATTTGCGTTGCTTCCAGTTCGGGGCTATTACAAATTATGGTGCTATGAACATTCTTATTAGTGTCTTATAGTGAATGTATGTACATTTTTTGTTGTATAGACCTAAAAGTAGAATTCCTAAGTTAGAAGCTTTAGCAGCTACTACCAAACAATTTTCCAAATGGTTATACAAATTTACACCTCCACCAACGGTCCTGAGAATTCCCATTGCTCCACATTCTTGCCACTATTTAATAATGTTAGGTTTTAAATTTTAACAATTCTTGGGGTGTGTAGTGGTACTCTTTGTAGGAAAATGCAAATTAGTGATGTTGAGTACTTTTCACTCATCAGCCGTTTGGGTATCTGGTAATTCATGAGATAAAGT", "alternateAlleleVcf": "G"}, "hgncIds": ["HGNC:21350"]} +{"accession": {"accession": "VCV000002112", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000002193", "version": 4}, "title": "NM_003477.3(PDHX):c.965_1023del (p.Asp322fs) AND Pyruvate dehydrogenase E3-binding protein deficiency", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "1997-12-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_003477.3(PDHX):c.965_1023del (p.Asp322fs)", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "1997-12-01T00:00:00Z", "dateCreated": "2015-01-10T00:00:00Z", "mostRecentSubmission": "2015-01-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "start": 34999671, "stop": 34999729, "displayStart": 34999671, "displayStop": 34999729, "variantLength": 59, "positionVcf": 34999670, "referenceAlleleVcf": "GATGACATTAAAGTATCAGTAAATGATTTTATCATCAAGGCAGCAGCTGTTACCCTTAAA", "alternateAlleleVcf": "G"}, "hgncIds": ["HGNC:21350"]} +{"accession": {"accession": "VCV000002631", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000002749", "version": 5}, "title": "NM_022464.5:c.454-6721_768-23561del AND Marinesco-Sj\u00f6gren syndrome", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2010-03-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_022464.5:c.454-6721_768-23561del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2010-03-01T00:00:00Z", "dateCreated": "2019-09-16T00:00:00Z", "mostRecentSubmission": "2019-09-16T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "start": 138311134, "stop": 138369402, "displayStart": 138311134, "displayStop": 138369402, "variantLength": 58269}, "hgncIds": ["HGNC:24624"]} +{"accession": {"accession": "VCV000002571", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000002680", "version": 3}, "title": "NM_006493.4(CLN5):c.566-42_*46del AND Neuronal ceroid lipofuscinosis 5", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2010-02-16T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_006493.4(CLN5):c.566-42_*46del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2010-02-16T00:00:00Z", "dateCreated": "2015-02-27T00:00:00Z", "mostRecentSubmission": "2015-02-27T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_13", "accession": "NC_000013.10", "start": 77574551, "stop": 77575150, "displayStart": 77574551, "displayStop": 77575150, "variantLength": 600, "positionVcf": 77574550, "referenceAlleleVcf": "AGCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG", "alternateAlleleVcf": "A"}, "hgncIds": ["HGNC:2076"]} +{"accession": {"accession": "VCV000003547", "version": 3}, "rcvs": [{"accession": {"accession": "RCV000003725", "version": 6}, "title": "NM_016247.4(IMPG2):c.887+430_908+274del AND Retinitis pigmentosa 56", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2010-08-13T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_016247.4(IMPG2):c.887+430_908+274del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2010-08-13T00:00:00Z", "dateCreated": "2021-09-12T00:00:00Z", "mostRecentSubmission": "2021-09-12T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "start": 100986081, "stop": 100987929, "displayStart": 100986081, "displayStop": 100987929, "variantLength": 1849, "positionVcf": 100986080, "referenceAlleleVcf": "AGCTCATTAGTTTACAATATATTGTCTATGTCTACTTTTACCTGATAGTGGCAGAATTGAGTAGTTGCAACAGAGACTATATGGCCTACAAAGTTTAAATTATTGGCTACCTGACTCTTAATAGAAAAGTTTGACAAACCCTGATCTGAAAAAGTCAGACAGTGATATTGGAAGTGATATAATATTTGAGTTATGCTCCCCTGGACCTACGGCCTGCTATATTTACTAAACTGTCTCCCAATTCAATGGACATTAGAGAAAGTGCCAAAAAGTACCTGTCATTTTCCTTGGGGGACCTGAAAACAAAAATTAAAAATATTAAACAGAGTTTGAGACAGTTATTATTGTCACATCATTCATCAAAGTGCAAGTTATTCATGTATTTCCTCTGAATTTCTTTGAAATGCTTCCTTAAATAAAAATGCTGACAAATTCCTATGGATTGAAGGAAGTGAGCAAAGGTGAAAAAAGCATTTTATTTTAAAACCATGGTCTTTATTTTCTTCTAAATTTTAAAAATACTTTAAAATAATTCACATATGGTTATTTCTTCATAAAGAAACTTTTTTCAGTAAATCAGCAGAGGACTCCAGTTGTTGGCTTTAACAAAATTGGGAACCTTCTTTTTTGGGATACAACATGTTATGCAGTATTAAAATCAGATGGTACACTGTAAAGTAGTAAGGGTATAGGTAAATGTCAGGACTGACTAATCCACAGTATACTGCATAACCTTTAATATTTATTATTTTATGTAGCAGATGCTTAAATAGAACTTTCCATGTGCCAGGAACTATGCTAAGCATTTTATAAAAATTGATTTAATCTTCATTAAGATTTATTAGTATCCTCATAATATAGGTATAGAAACTACAGACCAAAGAAGATAAATAAGTTGCTGATGGCATTTCAAAAGCATTTTTTTAATAAAGCAGGATTAAGGTAAATTGTCTTTTTTATACAAACAAAAAGTTAAATCCTGGAAATACACCCAAAAGCATCCAGCCAGAAGTGCAACGGCAGGATCTGAAGCCAGGCAAGTTGGCTCCAAAGACTGTGTTGCCCTTCATGTGCTGCCAAATAAGGGAGGTCTTCAAAGGCCTCACATTCTCAGGTTCTCATCTGAGCATACAACTGGAGGCAGCATCCTGTTTGAAAACTGCTAAAGTTGAATGGGGGCGACTGGTCATGATATGAGACTAGGTAAGTAGGACAACTTCAAATATTTGGCCTCTTTCCACTAAGCCTGCATCACTAACTAGCTAAACAACACTGGGAAAATTATTTAAATTCCCTGTGCTCTGGTTTCCTTATTGGAAAATATGAGCATAGTAACTATCTCATAGCATTGATGTTGGAATTAAATAGTGTGTGTGTAAATATACATATATATATATATAAAGCCTGGCACACTGTAAATGCTATATAAGTGCTTGCTGTTATTTCTGGTAAACTCAGAAGTTTTGTCAAGAACAAGCCAAAGTTGAGATGGATAACATCTAAACTTGGGCTAGAGCATCACCTAAATCATGGCATTGAGTCTAGCATGAAGGTTCAGAGCAAGAAAAGCTATAAAGTCAGCTGCTCTGTTTCAAAATTCCTCCTCCACCCCAGTTTACAAACTCTTGACTTTGGGCTAATACTTCATCCCTTTAAACCTGTTTCCTCCTCTTAAAAATGAGTATTAATAATATCTATCCTGAGAGGGCTGAAGATTAAGTGAGCTCAGCAATGTGGCATACCCAACACAAAGTATTCACTCAGTAAAGTATTCATTCAGTAAATGTTCACAAGTGTTACACTGTGAGTCTTAAGCAGGGAATAAATGTCTTTAAAAGAGGTGTCTGGTT", "alternateAlleleVcf": "A"}, "hgncIds": ["HGNC:18362"]} +{"accession": {"accession": "VCV000003976", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000004182", "version": 5}, "title": "NC_000008.11:g.52623770_52685461del AND Breast adenocarcinoma", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2002-07-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000008.11:g.52623770_52685461del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2002-07-01T00:00:00Z", "dateCreated": "2015-03-06T00:00:00Z", "mostRecentSubmission": "2015-03-06T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "start": 53536328, "stop": 53598019, "displayStart": 53536328, "displayStop": 53598019, "variantLength": 61692}, "hgncIds": ["HGNC:15574"]} +{"accession": {"accession": "VCV000003977", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000004183", "version": 5}, "title": "nsv1067861 AND Breast adenocarcinoma", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2002-07-01T00:00:00Z", "submissionCount": 1}}}}], "name": "nsv1067861", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2002-07-01T00:00:00Z", "dateCreated": "2015-03-06T00:00:00Z", "mostRecentSubmission": "2015-03-06T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "start": 53537321, "stop": 53574220, "displayStart": 53537321, "displayStop": 53574220, "variantLength": 36900}, "hgncIds": ["HGNC:15574"]} +{"accession": {"accession": "VCV000004005", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000004212", "version": 3}, "title": "NC_000022.11:g.(?_18906222)_(18936553_?)del AND Proline dehydrogenase deficiency", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2002-09-15T00:00:00Z", "submissionCount": 1}}}}, {"accession": {"accession": "RCV000004213", "version": 3}, "title": "NC_000022.11:g.(?_18906222)_(18936553_?)del AND Schizophrenia 4", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "risk factor", "dateLastEvaluated": "2002-09-15T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000022.11:g.(?_18906222)_(18936553_?)del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic; risk factor", "dateLastEvaluated": "2002-09-15T00:00:00Z", "dateCreated": "2015-03-16T00:00:00Z", "mostRecentSubmission": "2015-03-16T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 2}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_22", "accession": "NC_000022.10", "innerStart": 18893735, "innerStop": 18924066, "displayStart": 18893735, "displayStop": 18924066, "variantLength": 30332}, "hgncIds": ["HGNC:2846", "HGNC:9453"]} +{"accession": {"accession": "VCV000004608", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000004871", "version": 2}, "title": "NM_032383.5(HPS3):c.0_217+692del AND Hermansky-Pudlak syndrome 3", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2012-10-11T00:00:00Z", "submissionCount": 2}}}}], "name": "NM_032383.5(HPS3):c.0_217+692del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2012-10-11T00:00:00Z", "dateCreated": "2013-04-04T00:00:00Z", "mostRecentSubmission": "2013-04-04T00:00:00Z", "numberOfSubmitters": 2, "numberOfSubmissions": 2}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "start": 148844501, "stop": 148848419, "displayStart": 148844501, "displayStop": 148848419, "variantLength": 3919, "positionVcf": 148844500, "referenceAlleleVcf": "CTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGCAAAAATAATGGAGCCACCTATGCAAATAGTGGTCAGCTACCTTTTGGGAATTCCTATACACTTTCCTTGTTTGTTTTTTGTGACTTTTCCAGAAAGAACTTTGAGGAAATAAAGAAATAAAAAATGAGAAGTAAATGGTATTTTGTGAGTGACTTTCTCAACACATTCTCTAAGACCAATGCAGATATCCCGAGGTACCTCACAGATGGGATAGGAAATCAGTGCTCCAGAGATCCAGAATCCTTCTTTTCTAGGCTGGTTGAGTAGAGCTCTTTGTCCATGTTGTTGCAGAACCATTTTTGTAGCCATCCCCAGTGGTGTTGTCACCTAGAAGAAACTTGGGGGAGCTTTTTACCCACATAGCACCCTCAATCTCCCCAGCAAATACAGCTTAAAGAAGTTCTAGGGCCAGGTGCAGTGACTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGAGAGTATCGCTTGAGTCCAGGAGTTCAAGATCAGCCTGGGCAATATAGTGAGACCCTATCTCTACAAAAATTTTAAAAATTAGCCAGGCATGGTGGTATGTGCCTATAGTTCCTGCTAATCTGGAGGCTGGGATGGGAGGATTGCTCGAGCTCAGGTGGTCAAGGGTACAGTGAGCCATGATCACACTGCTGCACTCCAGCCTGGGTGACAGAGCGAAACCCCATCTCTTTAAATAAGAAAGAAAAGAAAGAAAGAGAGAGAAAGGAGGGAAGGAAGGAAGAAAGTTCTCAAGACAACCCTTTTCAACAGAGTGCTACCCTAAGTGCATGTGCTATGGGCTAAATTGTGTCTTCCCCCCAAATTCATATGTTGAATCTGTAACCTCCAATACCTCAGAATGTGACTGTATATAGAGATAGGGCCTTTAAGAAATAATTAAGGTTAAATAAGATCATAAGGGTGGGTCCTAATCTAATATGGCTGGTATCTTTATAAGACAAGGGAAGGACACCAGGGATGCAGGCACACAGAGGAAAGACCATAGGAACACATAATAAAAAGGTAGTCATCTTCAAGCCAAGGAGAAGGGGCTTCAGGAGAAACCATACCTGCTGACATCTTATCTTGGACTTCTAGCCTCCAGACCTGTGAAAATGAAATATCTATTGTGTAAGCCACCCAGTCTGTGGTGTTTTGTTATGGCAGCCCTTGCAAACAAATGCAACCTCCCGCAAGGAATTGATGGTGTGCCATTGCTGCCCCTGCATTCGTAACAGGAATACAAGTGGGCAGCTCCTGCTCACAGCTCCTGACAAACGTGGAAACCAGACACATGCCCCACCTTCCCTTGGGTAGCATGTCTCTTCCCAAAGAATCTTAGATGAGTCAGGTGCAGTGACTACAGCAAGGAAGAAGACACTATCTCTAGGAAGGAATGGGGTTCCAGGTTTTGAGCAAATCTCACTTCTTTCTCCAAAACAGACATTCTTTTTATGCAGGTGAAATTACACTAAAGTTAATATCAGTCTTCATTAGGAGAAAATTGAATTAGGATAATTAAGTCTTGAAGAAGAAAATTAAGCCAAAAAGAATAATATGGCAGATACTTGTGGAAAGGAATCTTTTTTACTATTGATTTTGATATTTGCTCTTAAGTTTTGTATCTAGAACAAATAACTTGTGGACTATTAGTCTGGTTGTTTTCCATAGGAGCCTTCTGTGATTTTTTGCAGCCCTAGTTCCTGACCTGAGCTACCTCCATGTTTACTTCTCTAACTCACTGAGTTTGACGAACCTGTTGTTTCCCATTACTTAGAGGTACTTTATTCATCTGAAGGGCCTAGGAAAGGGAGGCAAGTTTAACTTCAATCCAATTGCATCTAATTTACAAATTCTGAACTGGAAACTGACTGAAGAAAATGTTGCACTTTCATTTATGTCCCTGTGTGCCTAAATAAAACAGCATCCCTCAATCCATGCTAACACATATATTTTCTAGGTGAACTGGACAAAGTTATACTACTTGTTTTATCTAAATCTGATTTTTTTAGAAAAGGGAAAGTGTTGCGATCGTGAACTCCACGTTGAGATGTCAGGAATAGATAATTTACTGCATAGTTTTAGGAGCACTGGACTGAAAGCCAGGGGATTTCCCTCCTAGTTCTTCTATCCTCTGGGGCTCAAACTAGTCTTTTGTCAAATGCCTACAAGATGAAGTCCATGGATTCTTTCTTTCAACAAATATCTTTTTGCCAAGCACGTTCAAGGCTTTGCTCTTTCCAGCTGAACTATTCTAGAATTTCCATTATTTTAAAGCAACTCTTCAGAGTGTTTAGCCCCGAGTTGCACCCCATTTCAGTTTTTGCAACCCCATCCTCCAGAAGCTCAGGGACTACTGAAGAGACATGAATAACGCTCCTCAAAGTAAGTACAAAATGTTACAAGATAGATGATGAATTGTCAGAACGTACTCAAAAGCCAAAACATACCGCCTGGCCCAAAGCAGTAAAAGACGAAAGGCAGGGACCCAGCGGTCCCCGCACCCACCGGCCACTGAGCATAGAGCAGTGGCAAGCTCGCGCGGCGGAGTGGGAGGCGCAGAGACCGAAAGCACTGCAGCGCCAGAGCGCGGGCTGACCAGGCTGGCGTGACCGCTTTCCCGACGCCTGCCACGCCCCGCGGCGGCCTCTTTAAGTAGCGGAGCCGCGGGCGGGGCCGGCTGGCGTTCACGTGACCCGGCGTCATTGGCTCGCTCGCGGAAGTAGTCCTACATTCGCGGTCAGCGCGGGGTCTCCGGGCGCCCTGCAGGGCGGGCAGGCTGTGCCATCCCGCCGGACGTCGGGATGGTGCAGCTGTACAACCTGCACCCGTTCGGGTCGCAGCAGGTGGTGCCCTGCAAGCTGGAGCCGGACCGGTTCTGTGGCGGGGGGCGTGACGCGCTTTTCGTGGCGGCGGGCTGCAAGGTGGAGGCGTTCGCGGTGGCCGGCCAGGAGCTGTGCCAGCCGCGGTGCGCCTTCTCCACGCTGGGCCGGGTGTTGCGCCTGGCCTACAGCGAGGCTGGTGAGTAATCTAGAGAGCCAGGGGCCGCCTGGGGTCCAGCTTGAGGCCTCCTAGCTAGCGGACCGAACGTCTGGGCTGTAGCTCTAGCTAGGGATGGGACTTCTTGCTTCCCGGAATTTGCCGGATGGTCTCCCTGGGTCTGGCCGCTGATTGCTTGAAGTCGCATTGAGCTATGCGGTTGTCGCGGCAAGCATAGGTATGAGCTTGCTTCTGTCGGGGCGGAGACGCTGACATCTCTTCGTCTTGGTTTTCTGCAGAAAGGCCTCTGGCTGGATTCCACTCATCTCGGATACTTAAGCAAACAACAACAAAAAACTCTTTAGTGCATCAGATTTCAAAGACTTACCAAAAAAACAAGTAGGAATAAGGAGACTAGTACTGTATCCCGGAACCTCCAAGTACTCCCAGCTTTAACAATTATTCCAACTCTTGGCAGTTCTTTCACATCTGTACCTCCATCTACTTCCGGTCGGTTTTTGAAAGCTCACATTATGTGTTGATTTTTAAATGTGTGTAAGTAGAACTCAGACTGCCCCCCTCTCTTCTCTTAAACATCTGTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCACGATGTTAGGAGTTCGAGACCAGCCTGGTCAATTTATTGAAACCCCGTCTGTACTAAAAATACAAAAATT", "alternateAlleleVcf": "C"}, "hgncIds": ["HGNC:15597"]} +{"accession": {"accession": "VCV000005264", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000005580", "version": 4}, "title": "NC_000006.12:g.144176889_144196077del AND Familial hemophagocytic lymphohistiocytosis 4", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2005-03-15T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000006.12:g.144176889_144196077del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2005-03-15T00:00:00Z", "dateCreated": "2018-06-22T00:00:00Z", "mostRecentSubmission": "2018-06-22T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "start": 144498026, "stop": 144517214, "displayStart": 144498026, "displayStop": 144517214, "variantLength": 19189}, "hgncIds": ["HGNC:11429"]} +{"accession": {"accession": "VCV000005677", "version": 3}, "rcvs": [{"accession": {"accession": "RCV000006031", "version": 5}, "title": "NM_014946.4(SPAST):c.1246-2896_1493+523dup AND Hereditary spastic paraplegia 4", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2007-12-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_014946.4(SPAST):c.1246-2896_1493+523dup", "variationType": "VARIATION_TYPE_DUPLICATION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2007-12-01T00:00:00Z", "dateCreated": "2020-01-16T00:00:00Z", "mostRecentSubmission": "2020-01-16T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "start": 32358735, "stop": 32358736, "displayStart": 32358735, "displayStop": 32358736, "variantLength": 4045, "positionVcf": 32358735, "referenceAlleleVcf": "A", "alternateAlleleVcf": "AAACGAACATTCACATAGTTCTTACCAGTTTACAGTGTTTTTTCCACACCGTCTTCAAAATGTAAAGTTTGGTCTTCAATACATCAGTATGCTGCTAGATTTAAATACTAGGGAAAAAAAAATCAGAGAAGTTAATAATATTAACTGTCACCTCCACTAGAAGATGGTCTCCATGTGGACAGTAATATTTCTCTTGTATTATCTGTGCTAAGTAAAATCTTCTGTAAGTTTCTTTAAATATTTTAATAAATCATAGTACTTAAAATGTTCTCAATATTCTAAAGTAGTTAAAAGTAACTATAAAATAGTACCTGTTTTTCTGATCACATTTTACTTCCTATGTGAAATTTTACAAGTCGTTACTCTATTTATTTATTGATTTATTTTTTAAGACAGGGTCTGTTCTGTCGCCCAGGCTGGAGTACAGTGGCGTGATCATGGCTCACTGCAGCCTCAGCCTCCTGGGCTCAAGTGATCCTCCCACCTTAGCATCCCAAGTAGCTGGGACTATAGGCACATGCCACCATGCCCAGCTAATTTTAAAAAATTCTGGGGGGCCGAATGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGAATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCGGGGTGTGGTGGCAGGCGCCTGTAATCCCACTTACTCAGGAGGCTGAGGCAGGAGAGTTGCTTGAACCTGGGAGGCAGAGATTGCAGTGAGCCGAGACTCCATCTCAAAAAAAAAAAATTTTTTTTTGTAGTGACAAGGTGTCACTGTGTTGCCAGGGCTGGTCTCAAACTTCTGGGCTCAAGTGATCCTCCCATTTCGGCCTCCCAAAGTGCTAGGATCACAGGCATGAGTCACTGTGCCTGGTCTTCAAGTTGTTATTAAAGCATGTTTACCCACATTATGCACATGGTATAATGGAAAGTATTGTTGTGGAAGTTAGGAGATAGGGATTCTAGCCTAGCTTTTTATTTTTTTGGGACAAGGTCTCACTTTTTCGCCCCAGGCCGAAGTGCAGTTGTGCGATCTCGGCTCACTGCAACCTCCAACTCTCAGGTTCAAGCAATTCTCCCACGTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTGTAGTTTTAGTAGACACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCGGCCTCTAGCGTAACTTTTACATCCTGAACTGACCTTAAGAAAGTATAACTTTAGGCCTGTTTCATCTGTAAAATGTTAATGTCATAGGAGATGATCTTTTGAGATTTCTTTCAGCTCTGATAATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGATGGAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGTGGTACCATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCGCCGCGCCCGGCCTAGAATATTTGTTTCGATTATTCTAAATCTGGTGACATTTCTTTTGTTTTTAAGTTAAATCTTCAGTAAAAAGAATAAATGCCACCTAGAGGACAGAAAAATTTTTACAGTAGATTATCACAGACCTCATGACTCATTACTTTGGTGTATAAAATGGCCTTTGTATGGTGTCAGCACCTGGGAATGTCTCAAGGGGTGTTCATTGACCTTCTGGACTATCTGGAAATATTTTGATATTTATTGGCTGGGCGCGGTGGCTCATGCCTGTAATTCCAGCACCTCGGGAGGCCAAGTTAGGTGGATCACTTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACTAAGTTAGTTGACTATTTGTGAAATTTCCCTCTCCAAATAGGAAAGATAGGATTGGAAACATTATTCAGAAGGAAGAAGTTTTAAAGAAGGGCAGGCTTAAAGACTATCTAATGAATTTACCAATATGGTAAAACCCCATCTTTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACCTGGGATGTTGAGGGATGAGAATCACTTGAACCCAGGAGGCAAAAGTCACAGTGAGCCGAGATTGCACCACTGCACTCCAGACTGGGCTATAGAGCAAAACTCTGTCTCAAAAAAAAAAAGGAAAAAAAAAAAAGAAATTTTGATATTTATGTGAGAATGACTTTTCACGGTGTTCTTAATAGCGCAAGTTTTGTTTAGGAGAGCACATTCCAACTTACTTGCTTCTATAAATATACCGTGTAATCTAGGGCTTAAAGAATATGTACAATGTCTTTTTCTCTCCCCTAGTCTTCCCCTTTTCTCACTAGTTATATCCTTGACTGAAGAGCTATTTCATTCTCAAGTCTTAGGAATGCAGGGTGAAGCAAAACAGATGAATTTTTAAAGCACTTAACCAGGCTGTATGAAATCACAGTCTGTTGTCTAAAATTGTAAGGGACGGTTAGTAGTACTCTCCCCTTTCTCAAACCAAATCTTTGGTTGTTTTAAGGAAGGGAAATTAAATTCCTGTGTGCTAGATTTTCAACATAAAATTTAAAAAACTGGAATAATGTTGCATTTTATGTGTATAACAGTATAATGCTTTGTTTTAGGTGGGAGAAGGAGAGAAATTGGTGAGGGCTCTTTTTGCTGTGGCTCGAGAACTTCAACCTTCTATAATTTTTATAGGTAAGAACATATTTTCCAACTAAGTTATTGACTATTTGTGAAATTTCCCTCTCCAAATAGGAAAGATACGATTGGAAACATTATTCAGAAGGAAGAAGTTTTAAAGAAGGGCAAGCTTAAAGACTATCTAATGAATTTAGTAGGACCCACTATATTAATAAGTAGTAAACTAGATTAATCTCAGATGACTCACATAGCTTGGTCTTTAATTAAAGTCTTATACTTGTATTTCCTCTAGATGAAGTTGATAGCCTTTTGTGTGAAAGAAGAGAAGGGGAGCACGATGCTAGTAGACGCCTAAAAACTGAATTTCTAATAGAATTTGATGGTGTAAGTGTTGATTATGATATTTTTAATGTGGCAGCATTTTAGTATATTTTCCTATTAAATGGCCAAGGTTAAAAATACAAATATCTTTATATTTGTTATTACTTTTCTAAATGAATTGAAAAAAGATTTTTTGCTTGTAGGTACAGTCTGCTGGAGATGACAGAGTACTTGTAATGGGTGCAACTAATAGGCCACAAGAGCTTGATGAGGCTGTTCTCAGGTAGGGAGATTTATATGGAAATACATGCATTTATTACAGACAATATTTACTCATGTGTCCATCTTACATATTATTTCCTTACTCTCAGTTTTAAGACTAAATTCACTATTTTCTTCCAGTACTATCTCTAGCCTCTTGTTACCAACTACATAAGGATTTTGAGGTCAACAGCTTGATATCAGGAGAATTAGTCTAGTAAAGGTTTAGTTACGGTTTTAGGCAAATTGGTCAGTTCTTCTGGGTTGCATTAAATTATCTTTAAACTTGAAAATTGATTCTTACCGTCTTTTATTGGGCTTCATGAGAAAATAATCAAATCAGGGTTCATGGAAAATGTGTTTTCTGTTCTTGTGTGTTTGAGCAGTTTATTCCCTTCATACTGGAAGGACGGTTTGGGTCAGCATAAAATTCTTGGGCATCCTTTCCCAAGGAATTTACAATATTGCTCCATTGTTTCTAGATTGGCTGTAGTAGTGTAAAAGTCTGAATCCAAATTGATTTTTTCAAATTTGTAAAATAACTT"}, "hgncIds": ["HGNC:11233"]} +{"accession": {"accession": "VCV000006017", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000006388", "version": 5}, "title": "nsv1197507 AND Mitochondrial complex 1 deficiency, nuclear type 9", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2004-09-01T00:00:00Z", "submissionCount": 1}}}}], "name": "nsv1197507", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2004-09-01T00:00:00Z", "dateCreated": "2018-12-16T00:00:00Z", "mostRecentSubmission": "2018-12-16T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "start": 1812546, "stop": 1816720, "displayStart": 1812546, "displayStop": 1816720, "variantLength": 4175, "positionVcf": 1812545, "referenceAlleleVcf": "TAAAAATTTGTGTTTCCACATTTTGCAGTTATAATCCCCTTGTCCCTCCAATTCCCTGTATCCCAGATTATCCCATGTGGCAAATTTCCCCGGGTTGACTCCTCTTTTAACACAACCTTAGTTGCCTTAAAAACTTCCCTGACTTGTGCCACAGTAGAGTGTCTGAAGTTCATTCTATAACATTTCCTGTCCTGGACCCAGAATCAGTCATTTTTGAAAGAATCCAGTCCCTTCCCTTCGGTGTGAAATGGTGTTTAGAGACCACCATGTGGGCAGCAGGGGTCCTCATTGCCCTGAGTTAATCATGGTCCTGGGGATGGAGCTAGAAAGGGTGTGTGTAGGCCAGGCTCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTAAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCGGACGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAGAATTGGTTGAACCTAGGAGGCGGAGGTGGCAGTGAGCCAAAATCGCGCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAGAAAAGAAAGGGTGTGTGTGAACATCAGACATGGGATGAGTCACACTGATCCTTCCAAACTTAGTTCAGGGTTACAAGACTTCTGCTGAACCAGTGAGCTGACCTCTCTATTTCCTTCCCCACACTGAAAATCCTGATTTTTCAATAATAATTTCATTTGCTTTGGAAGCGGTTTTATTCTTAAGGTGTGTCCTGTTAGAAATGTTCCTGTTACTCTCTTAAAGTGTTGGGAATTCCTTAGGTCCATTTGTCTCTTTTAAAAGTTTAGTTTTCTAACTTTGAAAAATATAAAATATAGTCTCAGTCAGATTTATAAAACTTGGAAGAAAGTCTAACGATCGTGCTCGCGTCCTCCTTCCTTTCCACCTCACAGTAGTAACTGTTCAGTGCTTTCTCCTTTGGATTTCATGTAAATCAGTGAATATGTAGGCGGACCCCTGGTATTCCCCACATGGATGAGTGGAAGCTTCCTGTCCACTTACCCACTGCCTGGCATCTCCACGTAGTCCTGTGTCCTCCTTCACCCCATCGCGGTATTATGGAGACACTTTTTTCATTCCGTTTTGATAGTAACTGAAAGCATCAGCACACAAGCAGGACGTGAAGTTACCAGAGTCTTTCCCGCACATGCCTATGAGTCATAAATGACCAGGTGGAAGACACAGTGGATGAGGAGACCCAGTGTACGGTAGCAGCAAACAAGAGAAAACACTTAGGAACAACCTAACCGGCATTCAGGACCTCTGTGGCCCAAGGGGAAAGCCGGAAGGACATTGTTGGTCTAACGGATTGCAGAGCTACTGGCATTTTTGGCATTTTAGATAAATCTATTCCATCGGTATCATGTTTACTGAGGTGGATAACTGCATGGAGGTTCTGTGAGAGAATGTTCTTATGAAACGCACATGGGAGCCTGTGACAGACAGGCCCGAGCAATACAAATGTCCTCAGGTGGGACAGAACGATGTGGTGGGGAGAAGAGGGCGTGGCAGAGCCCACGGGGCACGTGTCAGCATTTGCTGGGTCCACGGGGACAGAAGGGAAAGGCTCTGTGCTGCTGGGATTCTTGCAGTGCCTCTCCGCGTTTGGAACTTTATTCCAGTGAAAAGTAGATGTGTGTGTAGGCCCTGAATTTAATAAGGTCTACAATGATAATAGTTAAATGAAGCATGCACCATAGATTCGTGCTGATGGTACATGAATTTGTGTGTGGTGGGTTAAATTGTATGTAGTTAGCAAGTTTGTGTATTTGTTTACGTAAGTCTTTCTTCTTGTTCCAGGTGAATGAAAACTTTGCCATTGATTTGATAGCAGAGCAGCCCGTGAGCGAGGTGGAGACTCGGGTGATAGCGTGCGATGGCGGCGGGGGAGCTCTTGGCCACCCAAAAGTGTATATAAACTTGGTGCGTAGCTGGCCACCTGTGCACATGTTAGGGCAGCCTGCTCGTCCTCATACTCCCCTTCACTCCCAGTGCCTGTTCTTTCTGTCCTCTTCTCTACCTGCTCCCGAGGCGGCCCTTACGGGGTTCACACTGCTGGCACATTCACCCTACAGCGCCACACTACAGGGCCTACATAGAGCCGCCTGTCCGAAAACCCCCTTTCAACTGTGAAGTGGTGGGCGGCATGTTTCTCTTCTCGGACGCCCAAGCGTCTTTCCTCTCTGGGCCCTTCTCGGTTTGGTCATCATCTCAGCTCAGGCTGCCACACACAGCACCGCAGGCTGGGGTCGAAAACAACAAACACATTTCCCACAGCGCTGGAGGCTGCAGCCCAAGACCACCGTGCCGCTCTGTGGGTTCCTCCTGGGGCCTCGCTCCGGGGCTTGCAGATGAGGTCTCCTCCCTGTGTCTTCACAGGGCCGTCCCTCTGTGGGAGACTCCTCATCCCCTCTTCTTATAAGGGCACCAGGCAGATTGGCTCAGGGCCCCTATGTGACCTCAGTTTACCTTCATCACCTCTTTAAAGGCCCCATCTCCAAATACAGTCACATCGGGGGTTAGGACTTTGGGGGGCACACGGTTTATTTTCTAACAATCCCTATGTAATCTTTTATGCCTGTTGATGAGTGTCATATACAGGACCATTGAGAAAAAAAAGAACACAGGACCGGAGAAAGAGACCGTGGGCTGAAGCTGGGATGTGGAACTGGGGTGCAGGGTGGGAGGGAGGCTGCCACAGATCACTCAGGGACTCGGGCGGCTGCTGACCTGGGGTGCAGGGAGAGGGGGAGGCCACCGACAGTGGAGCACTCAGGGACTCAGGCGGCTGCTGGGCTTGGTGTTCTCCCCAAAGCAGAGTCCTGGTTAAGGGACTTTAACTTCGTTAGAGCTGACATTTATTAAAAGCTGTCATTATCTTGTTGCCTGTCCTGAAAAGGGGACAGTGTAACAGGCATAAATGGTTAAGCAGCCTAGAGTGGGACTGGGCACCCGGCATGTCCCCTCCTGGGCTCCAGCCCTGAAGGCCAAGCCTGGTTGTGCCTCACTGTCGTGTGCAGCACCCACCGCCTGCTCCAGGCCGCTGAGGTGTGGGGAGTGAATGGAGCTGCAGGCTGACAGTGATGTCCCTGGGGGTCCTAGGGGATGGCTGCGTAGCCCGGGGTGGGAGCCTGAGGCCAGGGGCTTCGGTCAGCCTGGAACCGAGATCGACAGTCTGCATTCTTACTTCAGTAGTAACTGCGTATTTTTGTTTCTGACAGTCTAAGTTTTATACATACATTTTCAATGCTTAATATCTAGATTTGAAGTAGAATATGGAAATATGACATCATTCCTTTTGAATTTTTTCAGGACAAAGAAACAAAAACCGGCACATGCGGTTACTGTGGGCTCCAGTTCAGACAGCACCACCACTAGAGCGTGTGGCACGCCGGGGGTCCCGCAGCATCCTGTGAGCATTTCCGCGGGGAAGCTGAGCACGTGAAGCTCGCTGGTTCTGTGCGAAGGGTATTCCTGGTGCTGAATAAAGGGTGTTGCTGTCAAGGCTGACAATTTGTAAGTTTGTTTCTTTCATAGTCTGGGCTTTGGAAGTGAACATCCACGTGGACATGGGTAGACATGCGAGTGGAAGCAGTGCCCGCTCCAGTGAGCCTGAGCTGCCTCCTGCCGGCCGCTGCCTGCCTTACCGGCTGCTTCTGTGTGTCTCCTCTTATCCTTGGGGCCACGTGGGCTGCAGGAATGGGCGGGGGGCAGGGAAGGAGAAGGAGAAGTGCCTCTTGTTTTGCAGATGCAACTGTGCTTCAGAGAGCCAAGGTGGGTCTTGAGGTGCATAGTGAAGGAGGGTGCCCAGGCCTCAACTGGTCCTATGGGAAGGTCAGCCTCTCTCCTGTTGCTGGCTTGCAGAGCTGGTCTATCCGTCCGTCCTAGTCCCTATGTTGAAATGTCAGATCTTAAAACCCAAGAATTTAAGCACTGGTTTGAAGGCATCGAAAGTCACATACTGGCCACATTAAGGACAGTCTATGTTTTTAAAAGAGTAAGGATTATAATGTAGTGTAACATAAAAATAAAAGTAGATTTTGAGGGAAGAGAAAGGAGTCTTGCTAG", "alternateAlleleVcf": "T"}, "hgncIds": ["HGNC:7713"]} +{"accession": {"accession": "VCV000006375", "version": 4}, "rcvs": [{"accession": {"accession": "RCV000006747", "version": 6}, "title": "NM_003664.5(AP3B1):c.1474-7072_1650+921del AND Hermansky-Pudlak syndrome 2", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2006-07-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_003664.5(AP3B1):c.1474-7072_1650+921del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2006-07-01T00:00:00Z", "dateCreated": "2019-10-02T00:00:00Z", "mostRecentSubmission": "2019-10-02T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "start": 77436046, "stop": 77444215, "displayStart": 77436046, "displayStop": 77444215, "variantLength": 8170, "positionVcf": 77436045, "referenceAlleleVcf": "TGCAAATCTGGTAAATTATACTACTATTAAAAGTGGTTTCCCTTTCCTCTGCAGGACAAGGTCCATACTACTTAGCAGAGCATACAAGCCACTCCATGCGTTCAAACTGCAAAATGTCTTAGTCCATTTGGGCTACTGTTAGAAAATACCATAAACTGGGAAGCCTATTAATAATATAATTAATAATAAAAATTTATTTCTCACAGTTCTGGAGGCTGGGAAATCCAAGATCAAGGTACCCACAGTTCTGGTGTCTAGTGAGCACCCATTTTCTAATTTACAGATAGCACCTTCTCACTGTGTCCTCACATGGCAGAAGCAGCAAGCTAGCTCTCAGGGATCTCTTTTCTAAGAGCATAAAGTTCATTTATAAAGGCTCCACCCTTATGACCTAATCACCTCCCAAAGGTCCTACCTCCTAATACCATCACATGGGTGATCAGGTTTCACCACATGAACTTTGGGGGATATAAACTTTCAGACCATTGTACCTGCCATTCTGGACTCACCTTCAAAAAGTTTCCCAGAAACACCAAGCTGTTTCTTGACTCTGACCCTGTGCTTTCCTCTTTCTGTACAGTAAACCACTCTTACAAGCCCTTAGTCAAGAGTTTCATCCTTTATAAAATTTTCTCTGACCTCACATCGACTTCAGACTTTATAATTCGTCTAGAATTCCACTGTATGTCAATACTTCTGCTACAGCATTAACACACACTATTTCATTTTTTAATCTGTTTTCTCTCTTACTAGACTAGAATGTCATCTGTTTGCACTAGTATCATCTAACATAGAACCTGAAACAAACAGGCACCTAGAAATTGTTGAATGGTCAGACTAATGAAGGCACAGACCCCCGCTGTTTGATCAGAGTGAAGAGGAAAGTACGTATTAGATAGGTTGACTAACATTTGCCTCTCACCTGTTTGGAGTTGGTTAAATACAATTTTGCTCCCAGATTTAATATCTGCAGTTTTACCAGATCATCTTCACTAGTGAAGCTTTTAGCCATCTTCCTCAAAACATCAGGGGCAATTTTAGGAACTCGTTCACAGTTTTCTCCAATTAGCCAAAGAATACTTGCTCTAGCAACAGGAACCTAATATGAGAAGCAGATTACATAGTTAGAAGTAAGTTAATCATACTCTAATATTAACATAGAAAAGGTTTTAACTATTACAAAAGTTTTACAGCTATTAATTAATTTAATGTATATCTAGGAATTAATCCTGTATTTATGAATTTTCGTCAGTTATCAAAAAATAAACACATAGGAAATCTCATTAAAATTGATTTCGAAGAGAATATCTTAGAAAATATTCATACAGCAAAAACCGATGGTCTAGAATCTAGATTCTATCAGAGACGAACAAATTCTAGAAGCCAGTCTAGCTGCCCATACCTATTTGTTTCTCCATTATCTGTTGCTGCTTTTGTGCTATAATGGCAGAAATAGTTACAGTGAAGACCATATGGTCCTCAAAGCCAAAAATATTGACTGTCTAGCAATTTATAGAAATGGTTTGCTGACCCCTGCTCTAGAACAGCAGTTCCCAAACCTCAATGCCCACAAAAATCATCCAGGGTTCTTACTAAAAAGACAGGTCCTGGGATCAGCTCCAAAATAGTATTTCTGTGGTGGGGCCCAGAAATCTATGTTTTAATTTAAAAAGCATCACAGATGACTCCTGAGACAGGTGGTCCACAAAGCCCATTTGAGAACCCACAGATAATACAGAAAAAGAAACAGATCAATTAGGTACTATGATTCCAAATCAAAACTGTTTTTGCTCTTTATGTATTAGCATCTACAACACTGGAAATATATCAAACTGATAAGATCATCAAGGTCTGCTTATAAAATCATGAATCCCAGTCTATTATTTGGTCAACAAAAGAAACAGGGATAAATTTGTCCAATATTGCATTTTGGCACTATATTTTTAAATAAACTGCATTTCAATATAATTTATGTTCTTAAAAGTCACTGCTTTGTGACAAATTGGAAACCTTCCATCAGTACCATTAAGACCAACAATTTAGAGTATGCAAATTAGTTTTATTACTATTTGCTTATTTGCATCCTCCCCTATTCCAAAAGGAATTTGAGAGGGTGTGTAAATTCATTTCAGTGAACATTTTCACCTCGCACAGAAAATTTGTTTTTTATAATAAGTGAAAAGGCTGACAGCTATCATTAAAAGGTGGCATCACGAGGAAAGATAATGTTCTTTTTATGAAGTCCTTTTACAATTTCTCAAAGTCCTAATATTTTCTGTAGTTTCATGGCTATACATAGTAGGATTGTTAAAGAAAAAAGTGAGAATAAGGACCTTTCCATAGCTAAAATTTTATCACAATATCTACCATTGCAAAATCTTTCAAAACACCCACATTATGAAATTATATAAAAATATTAAGTTACAATATTGAGTCCTTCACTAGAATCAGAATGAGATGATCAAAAAAGCTTTTAAATAAAAAGGTATATATTTTAAAACAGTGTAACAGCATGTCTTTAAATTATTATTTAGCATGTTTGGTGAGACACAAGAAATCCATATACTTGTGCAATTAGAAAAAGGTCTAAGTGCTATTAAAAATCTATTCATGCAGTGTGATAAAACTGATGCCCTTACTGCATACTGATTTCTGGAAAGAAAAGAGGTTATTTCTAACGTTCCAAAGGTTACACTGCATTAAGACCTTACTCCCAATCTATTATTTTAAATTGGGCTAAAGAATAGTAATTGAGTGGTACATTAAATTTTCCAGTATAGAGGAATTCAAGTTGCCTGCCATAATGAAAGGTAGTTCTAAATAAGAATATATGTGCAACTTCAAATTTCAGTTATGCTAGATTTATTTTTCTTAAATATTTTATTATATATTGCTAGTATAAAAATCAGAATTCTATGACATACCATAATCTATTATCCCATTTTAAGTAATTTTCTTCTGGTAACAATCTTTTGCAATTAAAAAGACGATCCCAAAAACAAGTAATGTTTAAAGAGATTGTTTATATTCATGAATATACTAAAATTAAAATTAAAATATTGGAATACTGTAAACACTCACGATACATATATTTAAAATACAACTCTTTGAAAAAATTAAAAATCAATAAATCACAATGCTCACAATAAAAATCTCAAGATGGTGGTGAGAATAAGATTTGTAGTTTTCTAGAACTGAGCTAATAAAATCCCCAAGAATTTTTAAAACTTAGAAAACTTCACCACAAGAAATAATATCAATATAAATATACCAAACTTTTGGTGATGGCATTGTATTACAAAGCTTAGGAAACTGACAAAGACAACATTTTTGAGCAGGTGGATGGGATCAGAATACTAAGATTTTTGGATTCCAGCTTTCCCTTTCTCTTCCCATTAAGCAACAGGACTCTCATTTATACACCATTGACACTATGAATTCACAGCCACTACTTTCAAAGATTTGAAGCACCTGAAAAAAAGGCAAGTAAGAAAATTAGTCACTTTTTAGAGGCCAGGCACAGTGGCTCATGCCTAAAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGACAGGAGTTTGAGACCAGCCTGGCCAACATGGTGATACCCTGTCTCTACTAAATATACAAAATTAGCCTGGCACACTCCTGTAATTCCAGCTACTTGGGAGGCTAAGGTAAAAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAGAAAAGTAAATTAGTCACTTTTTGTTCCCCATGGTCTTTTTAACCACAAAATAAATAGGAACACTGAAATAAAACCAAACTAATAATACACACACAGACACAGACACAGGTACAGACACACACACAGAGTCATACATATGATATAATACTTTCATTATGAAGCTCTGCTTTTCAATATTCTCAAAGACAAATTGGATTGTAAATGACTTTGCCTGATTCTTTATTCTAAATGCCCTGAGAAAGTGATTAAATGCACTTTTCAAACCTTGTACTAGAAGGCAGTTTCCACGGCCACCACAACCCATTAATTTGCCAGCAAAAACAAATAATGATTCCTAGCTCACCACAGCAGCTATAGAAAGACATCTAGAAAGATTTTGCAGATCACTCTGTAAGCAGTTCAATTTAAAAGCTATTGTGTTTCAACACCAGCCCACTGCACAGTGCAACAGTCCAAAGTAAACCCTACAAAAACATCAATTTCATTTATTTAAATTTGTCAAAGGCAAAATCAGTAGACATCTAAGCAAACTGCATACCAACAGCAAATCAGATCTAATACTCTGTATCTGGACTCAATATGCATTAAAGCCTAAGCCTGAATTACAATGGGGTGCCAGAGAAAGGGTGGGTAACTTGTGAAATGGCAGGCATCCTGTGAGGCATCTGGGCAACAAGGATACAAAGTGCTATTTCAATATTACTCAGTTTTTACAGAATAACATCTTTCAGTTGTTAAGATATGAAATCCCATCTGTCCCATTAAACATTATGTGAAATCCTGTCAGAGCAATCCACAGGTAGTATGGGTTGTTTTGTTGTTGTTGTTGTTTTTTAAAGACAGGGTCTTACTCTGTCATCCAGGCTGGAGTGCGGTGGTGCAATCATTGCTCACTACAACCTCAAACTCCTGGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCATGCCAGCTGATAGTATGCATTTTATTCTAGAAGAACTCCAAAACCAGTATTTATCATAAATGAAGGATACGCCAAAGGACAGAATACTCACAATCAGAACATGTAAGTTGACTGTATTACAGACATAAATCTATTTGATTTGACCGAATTCAAAATGTAAAATACATTTAAACTTTAGTTTTTATATTTTCAATTATTACTAAATAACCAATTAAAACAAAGCCCTCAATATGATAAAATCTATGTTCTCTTTTTAAAACAAATTACATAGCTAATATCTATTGAGCTCTTACCATGTGCCATGCACTGTTTTTGAGAGCTTTACGTATTTTCTCAGTCATTCATCGCCAAAGCCCTATGAAGTATGCTCTACTATGATCTGCACTAGACATATGAGGAAACTAGGTAACAAATGAGTTAAGAAACTTGCCCACATCTCACAGCTGGTTAGTGGTGGAACTAGGATCAGAACTCCAAATCTGAATCCAAAATTCATACTGGATCACTGGGTAGCGACAAAATGAGTGTGGTAAACTAGGAAGAATACTGGTCAGCAAGCTGTTGAGACCGGTTCTGATCCCACACTGATGGTGTTACATCAAGGAGGCAATTAACTTCACCTCACTGGGGTCATATTTACTTATTAATCAGATGAAGGATTATTCCTTCATCCTCTGTTTGTCTGCCACATTGTGCAATGGCTCCCTTAGTGCCTCCTGCCATTTCCCCAAGAGCCAGATTTTCAGGGCAGACCCAGGCCATCCTCTTGCCTGTTCCCACACCCGTGTATAGTGGGACATTTTCCCACTTCTTTCACCTCTTCTTTTAAGGATAGGTAAGGTGGCCAGGTGGGAAGAGGTCTTGCTATCACTTCTGTTCTCTCTCCTTCCAGAAGAAAGATGGACCCAGGATTCTGCCCTAATAAAGTGGCTCAGGCACTGAAGGAAAACATGCTCAATATTGACCCATTGTCCTTAGATATTGGACAGACTGGCTTTTCCTAAAATTGCAGTGTTTTAGAATGACACTCCTGGGTTTGATGGTGAAATAGGTAGAGATTCAGGAGGACAGAAGTCTCATTTAAGGCTCTTATTTTAAGGCTCACATTTTAAAATCACTTGCCTACGTTTAGGAGTTATCAGGTACTTGGTCGGATTAATAAAACACTGCTTTTATTTCCACATGGCCATTGTTCTTGTATAAACAGCTCTCCTGACTGGAACAGAGAGATTCTGGGGATTCAATCATTCTTCTTTCCTGACTTTGAAGTTATGTCTGCTACATCCCTCATCACCTTCTCCTGGGGTAACTTGTGGTTGACCATTTTGAGGGTTCTGCACAACAAATTGTTTTGATTCTTCCTTGCTTGTCCCACCTTCAAGCACTTCAGTTTCCTCAGATACGTTAGATGAGCAGTAACAACTAATTATCAGCTTTTCATTCTCCTTAAGTTCAAATGTGTGCTGTAGAATTCCATACAGCTTTCTTGTATTTTAATTTCTTTTATTATCATATTCCAGATTTGTCTACTTTTGTTACCTCTCTCTGCTTCATAATAATTAGAAGGGAATTTTGTTTTATTTTCTTTCCAAAAGACCAGATTTAACATGTACTTTTCAACTCATATATATTTTTTGTATTCTATTTTACAAAATCAGCATTGATCCCTCTTCTGTTTTGATTCGTTTTTCTTTTATTTTATATCCCTATACTTTAAAAATGGTGATCTTTATAACTTTAGCCATGTCCTACATGTTTTGAAATAAAGCATTTTATTTCCTGGGTTTTAGAAAAAAGTTTGCATTTCTTCTTTAAATGCATTCTTTAATCTGAAAGTACATTTCTTACTTTACAACTGGTCTGGTACCCTTTTAAATTATTTAAGTCTCATTTCATTGCTTAAGGTCAAAGAATGCAAAATCTTTAAGCTTCCTTTATGCCTAAATACATTCTTGATTTTTTGAAAATATTCACTGGATATACTCCTAAAAGTGGGTATTATCTGTTCAAGAGATATAAGGTTTTAGCTATATTTACTAAATAAGTTTTTGATTACTTAATTTTCTTACTTATATCTGTCTACTAGAAATATCTAATATGAGAGAAATACATTACAGTCACACATTGTAACTATTTTATCAATTTCTCCTCACATTTTGAATAGATTTTTCCTTTACATATTTATTTGGTTGCCATATTTTTTGTGCAAATAGGTTTGTGCTTATTACTTTCTTTACAAATTACCCTTTTTTCATTTTATAATGTTCCTTTTTATCTTGTTAAATGCTTTTAATTAACTGTAAATCTCACTTTCTTGTTCATATTTGCTTAATATCTCTTTCCTTACCTTCTTATTTTCAACTTTTATCACTTGATTAAGGTGCTTTAACTATAAATGGCCTGTAGCTAGTTTTTGTTTTTATTCCAATTTGTAAGTCTGTCTTTTGATGAGAAAATTCAGTCCATTCATATTCAAGATGAGAAATATTTGATTTTATTTCTTCCATCTTTATTACTTTTAAATACTTATTATTTATTTTACATTTGTTTTCTTTCTTTCTTATTTTTTTTCTGGCTTTGTAAAACTGCTATTTGTTCCTTTATTTTCCTTTGTGAATACTGAATTCTCACCATATTTTTGTATCTATTAATGGTTATCTTCTGAGAAAAACAAAAGCTGAAAAAAATAAGCTTTGCTATATAGAGCTGTAAGACTGTACTTATTTGGCTTATAGTCCAGCAACTGTTGAGAAAGTTGATGCATCAGCCAGGTGCCATGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGGGGTGAGATCACCTGAGGTCAGGAGTTTGAGACCAGCGTGGTCAACATGGGGAAACCCCATCTCTACTAAAAACACAAAAATTATCCAGGCACGGTGGCGCATGCCTGTAATCCCAACTACTCAGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGATGAGATTGCGCCACTGCACTCCAGCCAGGGTGACAGAGCAAGACTCCATTAAAAAAAAAAAGGGAAAGAGAGAGAATGAGCGAGAAAAAGAAAGTTTACACATCAAAAGTATCTTCTGTATCCCTGGACATGAATATACTCAAATAGAAGAAAGTTTTCTTCCAAGAAAGCCTAGGGTTTGCCAGATACAGGCCTCATACACTGTTACAGGTTTTATGTATAGCAGCTGCACTCTCCTGAAGCCCTAGTACTTATAATTGCCTCTTCCTTTCTAAACAGGACCAGAACGAGTTTACTAGCACAAGTTTTAACTAAATTTTGCACAAGAAGTCTGGGGAGATACAGAACTCCTAGTTCCTTCTCATAATCAGATACATACTTCTCTACCATTACCTGTAAACAAGGTATTAA", "alternateAlleleVcf": "T"}, "hgncIds": ["HGNC:566"]} +{"accession": {"accession": "VCV000006637", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000007016", "version": 4}, "title": "NM_007129.4(ZIC2):c.177_178ins56 AND Holoprosencephaly 5", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-08-29T00:00:00Z", "submissionCount": 2}}}}], "name": "NM_007129.4(ZIC2):c.177_178ins56", "variationType": "VARIATION_TYPE_INSERTION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2013-08-29T00:00:00Z", "dateCreated": "2013-10-02T00:00:00Z", "mostRecentSubmission": "2017-04-27T00:00:00Z", "numberOfSubmitters": 2, "numberOfSubmissions": 2}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_13", "accession": "NC_000013.10", "start": 100634495, "stop": 100634496, "displayStart": 100634495, "displayStop": 100634496}, "hgncIds": ["HGNC:12873"]} +{"accession": {"accession": "VCV000007063", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000007479", "version": 3}, "title": "nsv513788 AND Autosomal recessive early-onset Parkinson disease 7", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2010-10-01T00:00:00Z", "submissionCount": 1}}}}], "name": "nsv513788", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2010-10-01T00:00:00Z", "dateCreated": "2016-09-25T00:00:00Z", "mostRecentSubmission": "2016-09-25T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"forDisplay": true, "assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "outerStart": 8018845, "innerStart": 8022846, "innerStop": 8037799, "outerStop": 8044954, "displayStart": 8018845, "displayStop": 8044954, "variantLength": 26110}, "hgncIds": ["HGNC:16369"]} +{"accession": {"accession": "VCV000006632", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000007011", "version": 3}, "title": "NM_006412.4(AGPAT2):c.366_588+534del AND Congenital generalized lipodystrophy type 1", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2004-01-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_006412.4(AGPAT2):c.366_588+534del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2004-01-01T00:00:00Z", "dateCreated": "2014-11-29T00:00:00Z", "mostRecentSubmission": "2014-11-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "start": 139570503, "stop": 139571539, "displayStart": 139570503, "displayStop": 139571539, "variantLength": 1037, "positionVcf": 139570502, "referenceAlleleVcf": "ACCCTGGCCTCTCCCAGACACCCTAGGATGCACTGCACCCCTGGAGGCTGGGGACCAGGAAGTCCAGAGTCTGGAGGCGCTGCTTACAATGAGCTCCACCCACCCTGAGCTCTGGTCTGGCCTGATACTACACCAAAAGCCTGGCTTGTCCAGACCCACTGCCCATGCCCTGAAGCCCACCCCAGCCAGGCACAGGCCCAGAAATGAGCCTCCTGAGAGCTCTGCAGCAGAGGCGAGCGGCCCGGCTCCCCACCCCTCTACCTGCCCAGCCTCGCAGGCCAAGCACTGGGTGCCCACCAAGGGCAGCTGGTCACTCTGGGCTCTGTGTGGGCAAAAGGCCCAAGGGGCTGCCCTCCCTGGTCGGTCAGGGGGCAAGTGCAGGAAGGGGCAAGGAGGCCCTGTCCCCAACTCAGTGGGAGGAGTCCCTTGTGTGTCAAGGGTCCTCAGCTCGGCTGGTGGTCACCTGCTGCCTTAAGCCAGCCTGACCCCGCCTCCCCAGCCTGCACCCACCCAGGGAGGGCTGGGCTCAGCCTACCTGTGCCTGGACTGCCAGGTAGAAGGCGCCCTTCTTAAAAGGCAGCAGGTCCCCATTGTCGTTGCGAGTACCCTCGGGATAGATCCACACTTTGAGCTGCAGGGAGAGGAGAGCCTGGACTGACCTCACGCCCAGGCCACCCCAGAAAGGCCACGCCGCCTCGCCTCCTAAGAAGCCCCACTTCGCAAAGCAGCTGGCATGGGACCCCATCTGCGGAGCATGGATGATGTAGGGGTCTGGCGTGGGACCCCACCTGCGGAGCATGGATGATGTGGGGGTCTTGTTTTTTCTGCCAAAACCAAGTCACAAGCTGGCCCCTGCCTGGCCCCGCCCAGGCCCCACCCCAACCCCACCGAGCCCGGCCCTGCACACTCACGTTCTCCCTGACCATGCGCTCGCCCAGGTCGGCCATCACTGTCATGGCAGTGCTAGAGCGCTGCCGGTTGATGAAGAAGACGCCCCCGAGGTACATGATGAGGCCCACGGGCCCCAGGAAGAGCAGC", "alternateAlleleVcf": "A"}, "hgncIds": ["HGNC:325"]} +{"accession": {"accession": "VCV000006968", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000007383", "version": 4}, "title": "nsv513786 AND Hyperphosphatasemia with bone disease", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2002-07-18T00:00:00Z", "submissionCount": 1}}}}], "name": "nsv513786", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2002-07-18T00:00:00Z", "dateCreated": "2015-07-05T00:00:00Z", "mostRecentSubmission": "2015-07-05T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "start": 119932595, "stop": 120030098, "displayStart": 119932595, "displayStop": 120030098, "variantLength": 97504}, "hgncIds": ["HGNC:2220", "HGNC:11909"]} +{"accession": {"accession": "VCV000007654", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000008093", "version": 2}, "title": "NM_000414.4(HSD17B4):c.974_1209+1del AND Bifunctional peroxisomal enzyme deficiency", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "1997-11-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_000414.4(HSD17B4):c.974_1209+1del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "1997-11-01T00:00:00Z", "dateCreated": "2013-04-04T00:00:00Z", "mostRecentSubmission": "2013-04-04T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "start": 118835010, "stop": 118835246, "displayStart": 118835010, "displayStop": 118835246, "variantLength": 237, "positionVcf": 118835009, "referenceAlleleVcf": "TAGGCTGGAGCTATTGGCCAGAAACTCCCTCCATTTTCTTATGCTTATACGGAACTGGAAGCTATTATGTATGCCCTTGGAGTGGGAGCGTCAATCAAGGATCCAAAAGATTTGAAATTTATTTATGAAGGAAGTTCTGATTTCTCCTGTTTGCCCACCTTCGGAGTTATCATAGGTCAGAAATCTATGATGGGTGGAGGATTAGCAGAAATTCCTGGACTTTCAATCAACTTTGCAA", "alternateAlleleVcf": "T"}, "hgncIds": ["HGNC:5213"]} +{"accession": {"accession": "VCV000007653", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000008092", "version": 4}, "title": "NM_000414.4(HSD17B4):c.1212_1261+2del AND Bifunctional peroxisomal enzyme deficiency", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "1997-11-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_000414.4(HSD17B4):c.1212_1261+2del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "1997-11-01T00:00:00Z", "dateCreated": "2013-09-19T00:00:00Z", "mostRecentSubmission": "2013-09-19T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "start": 118837734, "stop": 118837785, "displayStart": 118837734, "displayStop": 118837785, "variantLength": 52, "positionVcf": 118837733, "referenceAlleleVcf": "TAGGTTCTTCATGGAGAGCAGTACTTAGAGTTATATAAACCACTTCCCAGAGC", "alternateAlleleVcf": "T"}, "hgncIds": ["HGNC:5213"]} +{"accession": {"accession": "VCV000009492", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000010100", "version": 6}, "title": "NM_005502.4(ABCA1):c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Glu529_Trp533delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer) AND Tangier disease", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "1999-08-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_005502.4(ABCA1):c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Glu529_Trp533delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer)", "variationType": "VARIATION_TYPE_INDEL", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "1999-08-01T00:00:00Z", "dateCreated": "2018-02-19T00:00:00Z", "mostRecentSubmission": "2018-02-19T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "start": 107594021, "stop": 107594034, "displayStart": 107594021, "displayStop": 107594034, "variantLength": 110, "positionVcf": 107594021, "referenceAlleleVcf": "AGAACTTCCTCTCA", "alternateAlleleVcf": "GTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTCCTGCCACCACGCCCG"}, "hgncIds": ["HGNC:29"]} +{"accession": {"accession": "VCV000012133", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000012916", "version": 4}, "title": "NM_000387.6(SLC25A20):c.200_326+1del AND Carnitine acylcarnitine translocase deficiency", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "1998-06-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_000387.6(SLC25A20):c.200_326+1del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "1998-06-01T00:00:00Z", "dateCreated": "2019-08-09T00:00:00Z", "mostRecentSubmission": "2019-08-09T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "start": 48921429, "stop": 48921556, "displayStart": 48921429, "displayStop": 48921556, "variantLength": 128, "positionVcf": 48921428, "referenceAlleleVcf": "ACCTGAGCACATCTTCTGGGTGTTTCTGTTGTAGTTTCTTCCCCAAACCAAACCCAAAGAAGCACACGGCAAACATGGGAGTGACCCCGATGATAGGGGCAGCCATTCCCCGATATAGCCCCGTGATGC", "alternateAlleleVcf": "A"}, "hgncIds": ["HGNC:1421"]} +{"accession": {"accession": "VCV000014303", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000015373", "version": 22}, "title": "NM_000426.4(LAMA2):c.7750-1713_7899-2153del AND Merosin deficient congenital muscular dystrophy", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2012-06-07T00:00:00Z", "submissionCount": 2}}}}], "name": "NM_000426.4(LAMA2):c.7750-1713_7899-2153del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2012-06-07T00:00:00Z", "dateCreated": "2013-04-04T00:00:00Z", "mostRecentSubmission": "2018-10-10T00:00:00Z", "numberOfSubmitters": 2, "numberOfSubmissions": 2}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "start": 129805906, "stop": 129810893, "displayStart": 129805906, "displayStop": 129810893, "variantLength": 4988, "positionVcf": 129805905, "referenceAlleleVcf": "GGTAATGATAAACATAAAATCCACATTTGTGGTTACCTCTGAGATGGAGAAGCAAGGAGATGGTATTAGAAAGAAACTCATAAGAGATGCAATGGTATTGTTTCTGAAATTTGGTGGTAGATTTACAGGTATTCATGTTATTATACAGTGTTAACGCAGCTTCATCGTTTACATGTATATCACTCATATTGTGAAGAATATATCAAATAGTCGTAATAAAAATATTTTTGAAGAGTAGAGGGAGAAAAGTGTTATTTTATTTCATTTCTTACTACACATAATAAGCACTAAATAAATATAAAATACAAATGCCCTCGTCAATTTTTTTGTTTATCTTGAAAAATAAACTTTTTTCTCATATTGCAAATGATAAGCTAGTTATAATAAGAATACCAGATCAAATATTCTGAAATAGATTTCCACTAAAGGATACTTGATTCCTTCATCATTGCCAGATATTTAAACACTACCTACTGGCTCCAAATTTCTCCTCTTCAAGATAAAAGAAATGAATGTGAATCACCAGCTTTCAGGATAGTGCTTAAAATAAAACAGATTCCTATTAAAACAATTACAATAAGAAAACACTATGTAGTATAGTATAAAGTAAGTTAAAATGACATTTTAATGTTTTAACATTTTAATAACTCATATCTACTTTATAAAATATCATAGTATATGCTATCTGAAGGAGGAACCAATGTTAAATAGTATAAGTCTGTTAGACATAATTAGATTTAGATTCAGTGCTGGTTAAATTGACAAGTTTTATATTTCAAAGCTAACGGTTTTGATACCCATAGAGTTATTTGTGATTCCTTTCTGCTAAATGGGTTTGATATGGCAAACCATCCATGAGCTAAGGAATTTTTAATTGAGTAGTTTGTGTTTTCCCTTTGACAGATGGTGAGCACTTATCCAGATCCTCAAAATGTTCTGTGGTGGACACGTAACTACATACATGATTTAGTAAATTATTGGAACATGATGATGTTTGATGGAATCTGTCTCTACCACCATAGATGACTCATGGAGAACTGAGCCATCACTGTGTGGCAGGTGCCCCCATACTCCACAAGAAAGGGAGAGCACGTGGCATCAGCTCTAGGGACAAGGACTGCATTCAGGCTCCCTGGGGTTCATGATGGGATATCAAAACCACACTGGTTGCTATAGTAACAGTAGCAAGAAGAAAGCAGGCATGCTTGTGGATGAAAAATTATCTTCCTTCTTTCTAAATGTGGGAGGCAGGTTACATGTTTGTGATAGCGATCTATTCTACCAGCTCAGAGAACAAATTGAAGTCTAAATACTCAGAATGCCACAAGGTTGGGAGTCAGGCCTGATTCTCAGAAGCTAGCTGTCCACTTGTGAATATAAGGGAGAGGGATTTTGTTGACACCCTTTGTCTCCTGATGGGTTTTATAAGTTAGAGGACCAACGCAAGCACAGCTGTTACTTTCAGCATCACAAATCTGCTTTGCAGAGAACTGCTATATTAATATATCCACTTTCCAGATCATCTCACAAGCAAAAATGGTAAATGATTAGAAAGATATTTCCAGCTGTTTTCAAAACCGTTTGAGAAAATAAAGTCTTAATTTCTCAGGTAAGATCTCAGAGCAGACGAACCTGTGGTTCTGCCAGGGAATCTCTAAAGCTAAGCCATAAATGAGACTTCTGTTTAATCTTCAATAACCACTTGCTGTTGCAGGCCTATTATGCAATACTCCTCAACAGGGGCCGTCTGGAAGTGCATCTCTCCACAGGGGCACGAACAATGAGGAAAATTGTGATCAGACCAGAGCCGAATCTGTTTCATGATGGAAGAGAACATTCCGTTCATGTAGAGCGAACTAGAGGGTAACAATAGCACTAAAATATTTATTATTGTAACTCAGGTGAACTTCCTTTGCTAGCATCGGTATCTATCAGTATCTGCCTGAACCTCTGTGTGTGTGGACCTACTATGCATTGCAAAAGGATACCGTAGCTTAATTCCCTCTTCTTTACTTTTCATACTTCGGGAACCTCATTTGCCTCAGCCCTTAGGAGTTCTACCCTTAACATTTTTATTCGTGCAGTTATCTCCACCTTTGGAAAAACCAAATGCATTTTCTGAAGCTATAAATAAGAAAAATCCCTCCCTCTGCCCCTCTTAAATATTACCTCCTCAAATAAGGTATGCACACAGCAAAACTCACAAATCAGCTCCACTGGAGCCAGCAGGCTTTGGCGGTTTCTATCTCATTCAGGTTCCAAAGCAGTTATGGCAGCTGCTTAGCTGTCACAGATACAGAGTGTGGCAGCAGCTGCAGGACCTATTGAGCCTATTAAGTGCATATCTTGTCCCTGTCCCCCTTCCCAAGGTTTGCAGGGTCCCTGCAGAGTGGCTTTCTGAGGGAACAGAATCAAGGGAGGGGAGGAAAATGACTGCTGCCCTGAGCCTGGCCACCTTTTTACAAATCTACCAGAGTGCTTGCCCCAGCCCTGGGCCAGGGAATTGGCTTTACTCATGCACAAACTGATGACTTTCTTTAGAATGCTGCAATACTTTATACTTACTTTATTAGGAAAGTCATCTGTATTTTTCATCAAAATATTGTATGACAACTCAGAGAGATAATTAGTTTAGAAGGACAATTAGAGAAAAAAGAAACAGAAGCCCAGAGACTTCAGGGGTTCAGACCTCCAAGCCAGCAATCCATTTATCAGACTGAAGACATAGAAAAGAACTGGAAATCCAATTTGATGAGGCCTCAAAACACAGAGGATACTTTTAAATGCAACGAGTATGAATATGTAGCAGTAGTTCAGCCAAGCCAATACTATCCTGCAGTGAAAGACCTACATTTACTAATTATCCTCTTGGGGAAAACATTTAGATAAGCAATAAAGATTTCTTACCTTCTAAGTAAACAACAAAGCTTTCCTCAGTTTTTATTATTATTATTATTAGGTAGAGGATTAGGCTGTAGGATGAATTGATACAAAGCGTTCATGCAGAATGGCTACTGAGACGTTTAGAAACCATGATCGAGACAAATGAGGGATCATTTATTTGGACAAACTGAGAACTTTTACTAATCTAACAGCCAGATATTGTAGTCATGGTCTCTGAGGAGAAATGCAAACTGAATGCTCTCATTTGAATCTTAGAATGCTTTAGAATCCTGGTTTCACATGTCTTCTAGATTAGATGTTAGGCCCTTTGACAAACTTTAATCCTTTTCATTGCGGAAAGGACTTTTTAAAAGATTTAAACTTTAGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAACATTAGCCAGACATGGTGGTAGGCGCCTGTAATCACAGCTACTCTGGAGGCTGAGGCAGGAGAAATGCTTAAACCAGGGGGACAGAGGTTTCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCAACTCGGAAAAAACAAAACAAAACAAAAACATTTAAACTTTAAGGAATTTCAATAAGTAACTGCAGATTTGAGAAATTAGTTTACCGAAATCACTCAAAATGTGTTATTTTGTTGAGAAAGAATTCTGGAATTCCCAAATGCATTACACTATTGTACCACTATGCCACTATGTCCTTTTAACAGGTGCTTCTTCAAGAAGGGCATTTTATTATGCCAACTTCACAGCTGTTGACCATCAATCCAACCTTTATTTGATTAAGCTCAGTATATAGTACATCACTGGAAACCAGTCATTTAGTTAATTGGCCATATAAACGAACAGTTTTGCCATTCATTGTTAATTACAGGATAATATATGACATATTAGTGTGTAGTCACTGAACTCTGTGCCAAAACAGTAATACATTTGCTACCATAATGGCTCATTCGGCACTCTAAGGTTAAAATGCAATCTACTCTATAAGCAAGTGCCACATTAAACTGATTGACCAGAGATCGCAAGTGACCATGAGAACTTCACCCAGAAAAAATTTTTAATGCTTTATATGCCTATTCTATGGCATGATTTGTGTCACATACTAGACAAAGATGATTTGTTTTCATTGTTCTGAATGTATGTGAGATCTGTAATAACATCCTTTCATCACAGATGAGAAAATATTAACTAACCTGCCCAAAATCATGTACTACAAATAACAGGACCAGGTATTAAATGAGATGATATATTTGACTTAAATACCTCCATCTATGCACAGCCAATAGATTATTCTTACATTTTTGTGTGACCATAAAGGTTTATATTACTAAATGTTGATTATGATGTATGATTATTAATTTGGAGATATTTGCATTATCCCAACACTTTTCAGATTTTCAGACTATGCATGTCAGTCATCATTTCTTTTCCTAAAATCCTGGACAAAATGATAGCTTTAATACCGCCTCACAAAATAATTGGATTTTCACCAAACTGGGGGCCAAGCTTCTCAAGAAGCTCCTTCTCCCTTGTCCTCTGCCTCTCTTTACTCCTCCTCCCTCATTCTCTCTCCCTTCCACCCCTTCATCTGGAAAAATCTCCCTTTAGTCACTTTGGTATCTAATTTCTTGGCACTCCAGTGACCTCTGCCTCCTATATCTGCTTTGTCCTCTGATCCTTCTCCTGGCATCCGCCTTGGTGGCCAGCAGTTCTTACTGGACAAAAACATCAAACCCTAAGAGCCTGAAGTAGTTACTTAAGCAAATAGGACAAGCAACTGAACTGAGTTTTTCTTCTGGGAAAGCTTTCTTCACACAGGTACAGAAATAGGCTAAAGGTCAGGAAGTAGGGTGAGATATTTTAGGAGTCATTTGGGGTTTCCAGAATGAGATAAAGATTTTAACACTGAACCCTAAATATTTTCTTTCTTAACATCCAAAGTATGTTCAAACAGAAAAAAGATTAGA", "alternateAlleleVcf": "G"}, "hgncIds": ["HGNC:6482"]} +{"accession": {"accession": "VCV000015063", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000016213", "version": 8}, "title": "NM_000518.4(HBB):c.-7305_92+16del AND Hemoglobin Lepore trait", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2005-01-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_000518.4(HBB):c.-7305_92+16del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2005-01-01T00:00:00Z", "dateCreated": "2018-05-09T00:00:00Z", "mostRecentSubmission": "2018-05-09T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "start": 5248144, "stop": 5255556, "displayStart": 5248144, "displayStop": 5255556, "variantLength": 7413, "positionVcf": 5248143, "referenceAlleleVcf": "GTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGCGTCTCCAGAATATGCAAAATACTTACAGGACAGAATGGATGAAAACTCTACCTCGGTTCTAAGCATATCTTCTCCTTATTTGGATTAAAACCTTCTGGTAAGAAAAGAAAAAATATATATATATATGTGTGTATATATACACACATACATATACATATATATGCATTCATTTGTTGTTGTTTTTCTTAATTTGCTCATGCATGCTAATAAATTATGTCTAAAAATAGAATAAATACAAATCAATGTGCTCTGTGCATTAGTTACTTATTAGGTTTTGGGAAACAAGAGATAAAAAACTAGAGACCTCTTAATGCAGTCAAAAATACAAATAAATAAAAAGTCACTTACAACCCAAAGTGTGACTATCAATGGGGTAATCAGTGGTGTCAAATAGGAGGTTAACTGGGGACATCTAACTGTTTCTGCCTGGACTAATCTGCAAGAGTGTCTGGGGGAACAAAAAGCCTCTGTGACTTAGAAAGTAGGGGTAGGAGGGGAAAAGGTCTTCTACTTGGCTCAGATTATTTTTTTCCTCTAGTCCACTAAGAATACTGCGTTTTAAAATCATTTCCTTGATTCAAGTTCCTATTTCTCTTTATATTTTGTTTGTTTAAACCTCCTTTACTAAAATTTACTCTTCTTTCTCTATAGCTTCCCAACGTGATCGCCTTTCTCCCATCCCCCTGTACTTTTTCCCCTTGTACTAAATTAACTCCTCAGGTGAGGAAAAACTTTTGAAGTGCAGAGTTCTGCTTCCTGCTATTAAAAGATGTAATTAAAACAGCAAAGGTAGCAAGCATTTATGAGGTCAGCGTAGGGTCTCAGTGTTCCCTAAGGGCCCTGTCAGTCATCCTGAATCCTGCCCCTACCTGGAAACCCATGTCGGTTTAGTAAGGAAAGTGTTATACTTTTACTTTGCATGTTTCTCCTACTTCTTCCTTTCAGCTCTAACACTCTGAAACTACGATTACACAAAATAAAATAAAATAAAATAAAATAAAACAATAAAATGAAATAAAATTTAGGTTAACCAAAAGAAACTGGATCCTCTATTTCTAGTTATCAGAAGGAAATTTACAAATTTCTTATTTCCATTGCTTTATTCTCTTAAATGCTTTCTCTATTATTGCTAAATAAATAGAGATCTCTCACTTTTTCTACCTGTCTCAACCCTCATCAGGTACTTGTGAAAAAATCTCACTCTGATTATTCTCACACACGCAGAAAGTGTTTGGTTCTTCTATGGCTATCTGGAGCCTAGGTTAAAAAATTATGCCTATGTATGATTATAGAGGTAAGAGGGATAAAATTTAAGTATTTTCTTTTTATATTCATTCCTCTGTAAAAAACTAAAGCAATGAGGATCTAGGCACACGTGTATCCCTGAGAAAAGATTTCACATGTTGAATCCTGGGAAAAGACGTCTTTAAAATATTTTAAATGTTAAAACATGCAGATTTGACTTGGCTGTTAGATTTTGGATTTTATTTTATTAAATTTAAACCTGCATTAGCATTGTTTTAGATTTAGACAGTTTTCAAGACCCTGTTTCACATCCCTGATATAAGAGGCATGTATATGTGAAATAAAGTGTTCTGCGGAAGTTTGAATATGTCTTTTGCAAATATCCTGGGTCAAAGAAAATGCACAGACTTTATGAAATTATAATATAGGTTATATTTATAGTATTCTGAAAGACCAAAATTGTCAAAGCAAGAGCTTTGAAATCCTGATTGGCAGAAATTGTCACCTTCTTAAAGACTTACCCTACAACTTCTTATGCTCAGAAATAGTTTTCCTTTTTCTATTTTGTTTTCTTTTTTAAATGATGAACTATGGATCCTTCTCTTGTGTTGGCAACTGCTGCAGATACCATCATCCTGGCTTCAAGGCAGGGGTTGCTTTTCCAATGGTAGTTACTTAGTGTGACTAGAGTGTAACGCAGACTTTTCTTTCTATTACCCATAATACCCTGCAGGGACAAGGCTGCAAGCTATACTAAGACCATCAAAAGCCCAGGCATACCAGGCAAATAAGTTTCAAGAAGCAATAAATAGTGCAAATTTGGTTATGGTCAGAGCCTCAGTTTCAAATCTAAATCAGCATTCAAAGTTCCTGAAAAACTATTCAAGCTTACTGACATCTTCACTATTGTGAGCTTGCTTCTACTCTGTGAATGGATGCCACAGCAGGTGCAGGTCTATTCTACTTTTATTCCAGCCCCACTGACCACAACACACACACACACACACACACACACACACACACAAGTCCTCAAAAAAGAGACAGCGAGAGAGACAGAGGTCCATTTCCTTTACTCCAGTCTATTAATCTTTCTTAAGTCCTAATGTTTTATATCAGAATGGCCCTAGTCTGGGTATACTTAGAGGATGAATATTAACTTCCTCCATGAAAATCATGACACTCATCTATGGGAGTGTGGTTTTATCATTTGTTTCAAAAGCAGCACTTGACTAGAGTATTTTTATACATGCTCTACTGTTTAGTCTAAAATTCCCCAAGTGAGACATTTTAGCAATCTACTGTATATGTTCCTAGGTCAAGCACAGTCTAGCTACTTGCTACAGACTTCTCTCGCAGATACACAATCTCTCAGTAAACACAACTCAGCAGCTCTCAGAATTAATTAATTAAAATGAAATAAAAATGCTCCAAGAAAACCAGAACCCATAGAAACAAACCGCACACACACAAAATAGTTTGGAAATAGGATAGTTTAGTTCACTTTAAAAAGTTGTATTTCTTACCAAAAAGCAATAAAGTCAACATAGACAGAACTTTGCTAAAGTATATGCATAATTATTACAGAAAAATTTATATTTCAGTCTGCACCTTGTTCATTAATATTTCCTCCACTGGGCTCAGATTTTCATTCAGAATTAGCTTTTTTTTAACCTCATTAAGTGGGCCATGGTGTCAATTTATGGAGAGCAGAGGTACAGTCTTCAGATAAATTTGAGATTGCATCTCTTTAGAGGTAGAATCTTGGCTTCAGTCTGAACACCCTTTACAAACATGTAGGCATTAATTCAGAGGACTGCTCTGAAGCTCAAGAGATGGATGATTTAGGAGACTATTAGGCTTAATTCTCCTGACATTAAATTATTTTATTGAAAAATTTTCATGAACTCAAATTCACATTATTACGTCCTCTCTTCCCTTCCTCTCTCCCTCTCTTTCACACACACACACACCCTTTCATTCAGACATACTGAACATAGTTTATAAAGCAACGCCATAGTGAGAAAAGAAAAACAACCATTTGATAAATTATCAAATAAAATTAAAGCCAAATCTTGAGGAATTAATTCCATTCCTATACTTTGTTTTAACTTTCATTTTAAATTTGGGGGTACATGTACAAGTTATATAGGTAAATTGCATATCACTGGGTCTTGATGTACAGATTATTTCATCACTCAGTGATGAACTTAATACCCAATAGGTTCTTTTTCATCGTCTCCCTCTTCCCACCCTCAACCCTCAAGTAGGCCTGGGTGTCTGTTGATCTATTTTTTGTGTCCATGTGTATCATCATTTAGCTCCCACACTCCTAGACTCTTACAAAAGCTCTACTCTAACAAATAATTTTAATATAACAACAAGGTGCCAAGTCTTTTTTCATCTCTTGACCTCCTCATCTTCAATATGAAGATAGCAATGCCTAGCATATAGTAATTGTGTGTGCTCGGCACATGTCCCATCCAGGTGATGTTCTCATGAATTCTCTGGTATTTGGATTTTTAGGGCCAACATCTTGCCTAGACTCACTGACTACTTCTAATGGTGTAGGAATAGAAGGTATAGTAAGCTATATTTGCTCTTTTTTTTTGACTTTTGGAGAAAGGAATGTAGTTTGTTTTCCCTATCAAGATCATAAGGTCTACAATCTCTCTTACTGTCTTTCGAATACCACACAAGTATCTCCTTTTAATATCTTACTCTTATGAGAACTTCCCTATGCTCAGGAATGTGAAAGTGATCTTCCCCAAAATGCCCTGAGTAGCTCTGCTTCTGATATGTAAACCAGTGGTTCCTAAATATCTTATTCAGATATAAAGAGTTCTCAGTGCCTACTATGTATAATGACTTAAGGAAAACACATGGATATAAAAGAGCTTCTGCTGCCAGTCAATTCAAAATGTTGTGATCAAAACAGTTAACTATAACACATTGTCAGTATATTCTGGCAGTACAGACAGAGTTACTGTGAAAGCACTTTCAAACACAAGGAAACAACAGATTCTGTTTAGGTATTCAAGTAAGTTTAAAATTAATCAACATGCATATAATACAGATTTTTAAAAATGTATACAACTGAGAAAGTTCTAAAAATCCTTCTAATTTTACCTATGGCAAAAATGGTGCTCAAGGAAAAAAATATTACTCCTATGATCAGAAAGGAAATAACTGTTCGGTTGTTTACTGCATGCTTCCTCTTTGTATGTTGTAGCATTAACAACAAAGAAACACTGTGCGATGGTATTATTAATATTGTCCTCTAATTCCAGAAGTTCTAAAGCAAGGAATAATCATTCCTTCATTTACTCATTTACTCATTCGTTCATTCATTCACTGTTTTCTTGAATAAATATTTTCTTTCTGCCCATTGATGAATTTAATATGAGGCACAGTAGGCATGTAAGAAGGTAGAGAATAGGCAGAATTGCTTATAAAGCACGGAGTGTGTGTGTGTGCATGAAATAAATAAGAAAAATATAAAAATATAAAAAATGGTGTGGGGGAGGGTTTGGAAAGATTTTTTGGGTAGTATAGAGAAGTTTATTGTGGCTGGGGTCAAGAGAGGTCACAAGTAATACGTGAGCAATGAATCTTGACTGAAATATGGGAAGATAAGAGGAAATTCTTTACAGAGATGTTCTGGGGCAAGTAAGAGGAGGAAGCTATTTCTTGGAGCAGGAACACTTGATGGGGTATAGTATTATGGGCTACAATGTGCAGGCAAAGGAAGGAGGAAGAAAGACAACATAACATTGTCTTGAGTAATCATTATGCCTTTAATTGAGCACATTATTTTCTCAGTAATTGTTGGAGTTTAATCGTAGCATTACCCTTGAGGCTATGTCTTAGGGTTGAGGTCTTCCCTAGAACCTCTGCAGTGCCAGTATTATCTTTGTATCAAGAGTTCTTGATAATTTCTGCTCTTTGGAGGTAGAAGTGTCACCCATTAATGCCTTGTACGGTTCCCTTGCTTTTCTCTTTTCCCATGTACTCTTTGTAAAATAAACAAGTGCTCCCTATCTGTAGAGCCTCAGGAACCTTCTTACACACCTGGACAAAAAAATGAAATAAGTGAAATTAATCAGGAAGTTGAGCTGAACATTCTTTATTAGGCAGAAGCCATACCCTTGAAGTAGGCATTGTGTTCCCAAGTTCAGAAAATAGAATCTAGGGAAATAGGGTCTTCTTATGGTTATCAGGAAACAGTCCAGGATCTCAATGGTACTTGTGAGCCAGGGCATTAGCCACACCAGCCACCACCTTCTGATAGGCAGCCTGCATTTGTGGGGTGAATTCCTTGCCAAAGTTGCGGGCCAGCACACACACCAGCACATTGCCCAAGAGCTGCGGAGAAGAGGTAGGCAGATACATGCATATGGTTAACAGAGAAATAAAGACTGGCTTCTGAGAAACTGAGCCAACACCCATTTTTTTCTGCCCAAATCTTAGACAAAACTGATCCCCAGGTTATTCCCATCAGCATAAATAAGTACATATATGAATGCATACATATAACATATATCTATACACACACATCCTCTATGTACTTAACTAGCATGTAGTCTATATATGTACATATATGCTATATATGCTGTATAATACTATATACAAATTAATTCCAAATTAGTTTTAATTTTGTATGTGTATATAGCATATACAAATTAATTACTATAAACAGATTAATAGATACAAATTAATTGATTAATCAGTGTGATGATGGGCTGTCTCCTAGCAACGACTTCTGCCCCACCTCCAGTGTAACTGCCTAGTCTTTCATAATCAAATATTCACTTTCCTTTCCATTCCATTTACTACAGAATTTATAAAATTCCAATTATTCCTTATTGTAAAATGATTTATAGCCTCTAAAACAGTATTCTATGCCTCTCATCTTTGAGTTGGAGCCTCTCCCATACCCATGTGGAGAGACAAAAGGATTATTCTAAGTGCAGAATTAGCAGGTGAGAGCTGGTATGCATAATTTGAGTTGTTGTTAGAGAAGGAAAAATGAAGGGAGGGGGTTGGGAGAGAAAGACAGGATATTAAATAATTTAAAATAGCAAGATTGTGAGGAAGGAAAAAATGCAGAATATTTAAATAAAAAATTAACAAAATTTTAGAAGCATTAAATGATAAAATATAGTAAAATGACAAAAATGTGGGAGAAGAGCAGGTAGGTAAAAGAACCAAAATGTAAGATTAGAAAGTAAAAAGAGAAAAGTGAAGCATCTCCTGGACTCACCCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAGTGCAGCTCACTCAGCTGAGAAAAAGTGCCCTTGAGGTTGTCCAGGTGAGCCAGGCCATCACTAAAGGCACCTAGCACCTTCTTGCCATGAGCCTTCACCTTAGGGTTGCCCATAACAGCATCAGGAGAGGACAGATCCCCAAAGGACTCAAAGAACCTCTGGGTCCAAGGGTAGACCACCAGTAATCTGAGGGTAGGAAAACAGCCCAAGGGACAGAGAGTCAGTGCCTATCAGAAACCCAAGAGTCTTCTCTGTCTACACATGCCCAGTTTCCATTTGCCTCCTTGAGCCTCTCTTAT", "alternateAlleleVcf": "G"}, "hgncIds": ["HGNC:4827", "HGNC:4829"]} +{"accession": {"accession": "VCV000016973", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000018493", "version": 29}, "title": "CYP2A6*12A AND Warfarin response", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "drug response", "dateLastEvaluated": "2002-10-01T00:00:00Z", "submissionCount": 1}}}}, {"accession": {"accession": "RCV000018494", "version": 26}, "title": "CYP2A6*12A AND CYP2A6*12A", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "drug response", "dateLastEvaluated": "2017-09-06T00:00:00Z", "submissionCount": 1}}}}], "name": "CYP2A6*12A", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "drug response", "dateLastEvaluated": "2017-09-06T00:00:00Z", "dateCreated": "2017-09-09T00:00:00Z", "mostRecentSubmission": "2017-09-09T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 2}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_19", "accession": "NC_000019.9", "outerStart": 41354669, "innerStart": 41355722, "innerStop": 41386534, "outerStop": 41387493, "displayStart": 41354669, "displayStop": 41387493, "variantLength": 30813}, "hgncIds": ["HGNC:2610", "HGNC:2611"]} +{"accession": {"accession": "VCV000017564", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000019124", "version": 29}, "title": "NM_003418.5(CNBP):c.-14-833_-14-806CCTG[(75_11000)] AND Myotonic dystrophy type 2", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2008-02-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_003418.5(CNBP):c.-14-833_-14-806CCTG[(75_11000)]", "variationType": "VARIATION_TYPE_MICROSATELLITE", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2008-02-01T00:00:00Z", "dateCreated": "2019-11-08T00:00:00Z", "mostRecentSubmission": "2019-11-08T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "start": 128891444, "stop": 128891447, "displayStart": 128891444, "displayStop": 128891447}, "hgncIds": ["HGNC:13164"]} +{"accession": {"accession": "VCV000018250", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000019912", "version": 28}, "title": "NM_001625.4(AK2):c.636_*4953del (p.Ser213fs) AND Reticular dysgenesis", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2009-01-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_001625.4(AK2):c.636_*4953del (p.Ser213fs)", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2009-01-01T00:00:00Z", "dateCreated": "2019-03-31T00:00:00Z", "mostRecentSubmission": "2019-03-31T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "start": 33473829, "stop": 33478866, "displayStart": 33473829, "displayStop": 33478866, "variantLength": 5038, "positionVcf": 33473828, "referenceAlleleVcf": "AGCACCTTTGAGGGGTAGGGATCATTCCTATTCTACTGATGAGGTGAGATAACTTGTCCAAGGTCGCATGGTGAAGTCGCTGTTGAAATCTGTCTTCTGACTCGTTGCTCTGTCTTCATCTGAGGAAAGACTTGTGAGGCTTCTGAGGAGGCTGCTCTCCATCCTGCTGTGTTCTGTCAGTGACACTTTGTGCACACAGGAGATCCTAAGACACATACCCTAGGCCCTCAGAGCCGGCAGTGACTTCTTCAAAATCAGTTCCGGCAGCGCTGAGTGTCCATGGAAAAGAGCTCTTATTCAGAGCAGCCCTTCCTGTGTGCAGAGCTACGCAAGTAATTAAATCACTTCAGCAACAAGATCAAGGGGACGGATAAGTGTTAGAGACTGTGTTTCAGTCCTGACTGCCTCTTATGCATGACCTCAGGAATGCCACTTCACCTCTCTGAGTCTGGTTTCCTCACCTATAAAAGTGAAGGACAGTTCTGACTCCACAGGGTGCTGTGTGAGGGTTACGTGAAGTCGAGGGTTACATGAAGCCTTTGCATAATACCTGGCACAACGTCAGTCTTCCGGGAGTGGTAGGACTAGTCTGCATTCTTGGTTTGCAGATTAGATGAGGAAACCCAGGCCCAAAGAAGCAAACAAACAATAGCTCACCCAGTCTTCTCTGTTTATTCTTCTCAACTACACCATGCTGCTTTGCAGGTTGGTTTGACAAACATTTCCCCACAATTAGATGCATGATGACCAAGGGAGGAAAGAAAATTTTCACAGGGTATTTAAAAAGCTCAGGGAACAAACAGATCAGTGCAAATCAGTAAGGCTAACACCTGAAAATGACTCTGCACAGGTGAGGAAGTGGAGCAGAAGAGGGAGGGGCTGGTTCAGGGAACAGGATTTAATATGTCAGTGAAGACCCTGCCTCTCTCTGTAACAAGATGCCTAAAGAAGAATAGTGGTGCTTCCAGCCCAGCTCCCTCTTGTTTTGGGAACAACAGTCATTTCTCAGAAACCTCACTTGCAAAGGCAGCCCTTCCAAAAACATGAGAGCTTTAGTTTGGAGAAATTATTTAAGCTCACTTTTGCTGGAGAGGAAATGAATTTAAACTAGGACACACAGAGAAGCAACAAAGAGTGTTAAAGAAGCAACTGAAAAGGTAGTCAAAGATCTGGCTTAAGGATTAGAAGCACTGGCTTTCTAGACTATGGACAAGTGTCCATTCAACAGTTATCCAGCCTGGCAGGAAGCAGATATCTTTCTGTGTATATCTGGATCCAACTAACATTTATCCAATGTCTGTTGCATGCCAGGTACTGAGCAAAAACCTTCTTCCTATAAATTTCATTTAATGCCATTAAGGCCAAGAAGGTGGCATAACCAACTTCCTTTTTCAGCTGAGGAAACAGGAGCACAGTGAATAACTAACTGGCTGGGATTTGTCCTAGGTCCCCTGAACTCCAAGCACAGTGCTATCTCCACTAGACCAAGCTGCCTTGTCTCTGGGCTCAAGAGAAGCCTGCATAGGAGCTGAAGGTCAAGAGGTTGCAGGCTTATCTCATATGCACATACTTGGACCTCCCTACCACACAGCTGCCAGCGACAAGAAAGGGCTTCTTTTCCTTCCAGCCAGGTCCAGAATTCAATGTCATTTTTCTAGCTTAGATTATCTAAAAAAAATGCCACAACAGGGGATACAAATTTTAACATATTTTATTGATTTAGGGGCCAAACAAGGCAGCATTTGGTCAGTTAAGAAAGGCACCTCATTGAAAATAATACATCACAGTGCTGTTGAGTGATCCCAGTCACAGGATTTGAGAATGGAAAGGACAATCTTTGGATGACATAGCTTAGGACACTTGCTCATTTATTTAAAAGAGTCCCTTCACACAGTGCAGATAAAAGAAGGCAAGAGCATAGGATTGTGGCATGTGCTGGGTAGCTGTGAGAGGTTACTCATGAAAGTAGGTAGCCTAGTAAATTAGTGGTAAGTCAGGGGAAGGGAATCAGCCTCCCTTTCCATTTCATTCCCTTCCCCCTCCCCTTGATTCCAGTTTGCTTGATTTGTTGAGCCACCATCCCTATGAATACACCTTACATCTCTTTCAAATGTGGAGATGGTTTTTTGATCTTACAGTGTGTGGAACCGGAGTCAGTAATCAAAGCTCCCTGTTCCAAGCTATAGACAGACAGGACAACAATTTGATTTCCTGTACTCTTGGTCTGGAACCCATGGGGTTCTGAGATAAAAGCTGAGGTCTTAGAGCACTGGCTTTAAAAAATATTTTCACCAGTCCAGAGTAAATGAAAACCCGATTCCTTAGAAATAATATTGTGTCTATTTCTACCCCCACCCTCCAAGCATGGTGTTTTTTAAAAAATTAATTTTTCCCTTACACTTTAAAAACTCTCACCTATGTATAAAAGAAACTGCCACACTACAATAACACTGCTGTTGTTCCAAGTATTCCTCTGAGCCCCTCACCAGCCCTCCCTCACCATCCTCACCCTGACCACCCTTCCCCTCTGCCCAGCACCTAAGAGCAGGGATCACGCCGCGGGGTGATGAGCAGTGTTGCAGTCTCGCCTGGCCTTCTGATACTAGGCTGAAATAGAGAGGAAACAAGAGAGAACAAAATGGGTTTTTAAAAACCAAGTACATATCAGAGGAGGCTGGCATGTAAGCCCCAGCAACCAAATGCATTAAACACTGGACATTTCTGTGACAGGTAAAAGCAGAACCTGCTGAGGCTGAGGAACTCTGGAATTAAATGAAGCAAAAACAGAATCCTAACCATACTGAGAAGGGTATATGCATTCCCTATGAATCTTCCAGTTCTTATGGGCAGCCCAAATATTACTTGTACATGTTGTATGCACACGTGAATCTATGTGGACGGATGACAAATATTTGGGCAAGGATCATGCACATAAAATTAGCAAACATTCAAGAACCTCAACTTTGAGGCCAAGTGCTTACAATTGTCCCTAGTTAAAGGGGAGCTGATTCTAAGATTCATGATGCCACTGTCACCCAGAGAAGGATCCCAGACCAGGCACACATAGCTGACAGTTTTTGTTTCACTCCTCTTCCTTGCCCATTCCCAGAAGTCATGTGCTTCCCAGAAACACACAAAGCCAGACTGAGTTTCCATTAAGAGTGGGTGGAGTTGGTTTAGAGCCAGGAAAACAAGGCAGGACAGAGGCAGCAGACACTCACTTGGACCAGGCAAAGAGGGAAGCAAGGTGGCCAGGTACTCATGCCCAGTTGCCATGTGGACAGCAGATAAGACCTCTGGTAGTCTCACAGATGGCAGGAGAGCTCAGGTCAGGAGGCTGGGCACTTTAGAGTCCACTGAATCGAGTCAGCAGCAGATTATGCTGAGGCTGGCGATATTATTTACTGGATCTGCCACTGACTTTCTAATGGTTTTTCCAGAGGCTGCCGTTTTTGTGGTCCTTCATAGCAGTCTGTTACTTCATCTGTTTGCCACAAATCAAACCAGAGACCAAAAGACAGCAGGGACCTTAGAAAATGCTCAATAGTTGGGAAGCTAAGGTTATGAATAAAAGCTGGTAACTGTCACAGGTGGTCTTATTTCTGGGTGATCTTTTCTTGGGGAAGTCCATGGCTATAGCCATCATAAAATTAGGGGTGAAGGGTTGGATCTAGAAAGGAGAGGGTTTGGGCTTAAAAAGAACATATCTGATTTCAGTTTTATGTCCTGGAGAGAGACTGGGTTTGAATAAATACTGATCAAAATGAATCCAAGAATAGATCACACACTGTTTTGTTCACACTTGGAAACACAGGCAAACATTAAAAATAAAAGCAAATAAACCTACCCTGGTCTCTTTTTGGGGAAGTAGATTTGACTGCTCTCAGATGATCAGCCTGGATGTTCAGAAGACAATCTGAATTCAAAAGGACCTTTCACCTGGTTTAATTCTCTGGCAACAATTCAGTTTTCAAACCCAATTCCCAAATAATTGCTATTTTCAGCATCATGATGCAGATCACAAAAATATTCCAATTTGGCCTGGCTCTTTTTATGACGATATCCTCTCCCAGTAATTTCTGTAACCTGCAAAGTAAGTGCCTTTTTCCTTCCACCTAGGGGGAAAAAATTAATGATCCCTGTTCACACACTGACTCACGTGGGTTTTCATCATGGGTTAGAAAACAAAATGGAATTCTCTGTCCATAATGTGCCATCAGGAACTGTGACCCTGCCTGACTTCACATGATCCTGGACTTCTAATCAGCTGCTGGAAATGGAAGAAATACTATGAGGTTCTGGAATTGCGGTCCCTGGAAGATTACCTGGGTTAGTTCATTTTGGTCAAAAAATAAAATCAAAAGTATGGTTAAAGAAGTAAACAGCTGGGCTGGGTGTAGTGGCTCACGTCTGTGATCCTGGCACTTCAGGAGGCCAAGGTGGGTGGATTGCTTAAGCCTAGGAGTTCAAGACCAGCCTGGGCAACTTGGCAAAATCCTGTCTCTACAAAAAATACAAATATCAGCCAGGTGTTGTGGCATGCACCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGATAATTGCTTGAGCCCCAGGAGGCAGAGGTTGCCGTGAGCCAAGATCACGCCACTGCACTCCAGCCAGGGTGGCAGAGCGAAACCTTGTCTCAAAACAACAACAAAAAAGAAGTAAACAGCTGGTAAAGCAACCTAGCCTAAAACTTACAAAGTAGCAGAGTGAACACATATGTGCATGCACACACACACACACACAACACACATACACACAGATGAGAGTAGCACACACGCCAAAGATACATCAAGCAAGTGCTTTTTTAATCAATACATCAAATGATATTTTTGCTAGCCTGAGGAAGCTTCTCTTTGCCTGTCCTATCATTCCCACCCATTGCCTCACAGGGATGGAAAGAAATTCCTTCTTGGACCCAACATTAGATAAACATAACCAAGTCTTTACATGTGGCTTTGGAGAAGGCTGCTAGGATGCTTGCGAACACGACATCGGGGGTCTGGGAT", "alternateAlleleVcf": "A"}, "hgncIds": ["HGNC:362"]} +{"accession": {"accession": "VCV000021089", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000020179", "version": 2}, "title": "NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del AND Hemolytic uremic syndrome, atypical, susceptibility to, 1", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-03-10T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2011-03-10T00:00:00Z", "dateCreated": "2013-04-04T00:00:00Z", "mostRecentSubmission": "2013-04-04T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "outerStart": 196712876, "innerStart": 196712928, "innerStop": 196797494, "outerStop": 196797546, "displayStart": 196712876, "displayStop": 196797546, "variantLength": 84567}, "hgncIds": ["HGNC:4883", "HGNC:4888", "HGNC:16980"]} +{"accession": {"accession": "VCV000039494", "version": 3}, "rcvs": [{"accession": {"accession": "RCV000032690", "version": 5}, "title": "NM_018112.3(TMEM38B):c.454+279_543-5092delinsAATTAAGGTATA AND Osteogenesis imperfecta type 14", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-04-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_018112.3(TMEM38B):c.454+279_543-5092delinsAATTAAGGTATA", "variationType": "VARIATION_TYPE_INDEL", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2013-04-01T00:00:00Z", "dateCreated": "2019-09-08T00:00:00Z", "mostRecentSubmission": "2019-09-08T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "start": 108484281, "stop": 108505262, "displayStart": 108484281, "displayStop": 108505262, "variantLength": 20982, "alternateAllele": "AATTAAGGTATA"}, "hgncIds": ["HGNC:25535"]} +{"accession": {"accession": "VCV000039782", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000033004", "version": 26}, "title": "NM_017410.2(HOXC13):c.-24497_736+2389del AND Ectodermal dysplasia 9, hair/nail type", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2012-11-02T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_017410.2(HOXC13):c.-24497_736+2389del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2012-11-02T00:00:00Z", "dateCreated": "2018-06-04T00:00:00Z", "mostRecentSubmission": "2018-06-04T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "start": 54308194, "stop": 54335815, "displayStart": 54308194, "displayStop": 54335815, "variantLength": 27622}, "hgncIds": ["HGNC:5125", "HGNC:43753"]} +{"accession": {"accession": "VCV000040972", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000033864", "version": 3}, "title": "nsv1067844 AND Hermansky-Pudlak syndrome 6", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2012-10-11T00:00:00Z", "submissionCount": 1}}}}], "name": "nsv1067844", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2012-10-11T00:00:00Z", "dateCreated": "2013-05-03T00:00:00Z", "mostRecentSubmission": "2013-05-03T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "start": 103822591, "stop": 103842542, "displayStart": 103822591, "displayStop": 103842542, "variantLength": 19952}} +{"accession": {"accession": "VCV000041329", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000034230", "version": 3}, "title": "NM_025137.4(SPG11):c.5867-3237_6478-451del AND Hereditary spastic paraplegia 11", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-01-31T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_025137.4(SPG11):c.5867-3237_6478-451del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2013-01-31T00:00:00Z", "dateCreated": "2013-05-03T00:00:00Z", "mostRecentSubmission": "2013-05-03T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_15", "accession": "NC_000015.9", "start": 44862154, "stop": 44870476, "displayStart": 44862154, "displayStop": 44870476, "variantLength": 8323, "positionVcf": 44862153, "referenceAlleleVcf": "GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGAACGGCTTTGCTGTCCTTAAATGTGACTCTCAAGTGCTAAAGTGCCATTCTCCTGGGCAGGCACTCTTCCTCTTTTCACCACTACTCATGACAGTGGCCCAGTAGCTTGCTCAGCCACTCAGGTCAGTTTCAAGCCCAGAGAATTTAGGGAGGCACATGGGAACTGAGTTGCCGACTTACTTCAATTCAGAGATGGGGGGAAGGTCCAAACCTTGTTTTGGGGAAAAATGCAGCTGTCTTAGCCCTCTATCTAGAAAAGTTAACTGCCCTGACTAGGGGGTGGGATGGCCCTGGAACCTGGGAGGGATCTTCTCCCTTTCGCTCCTTTGGAGCAACCTCTGATTCTGACAGAAATGATAACTTGGAGCAGAGGGTTGGGCTGCCCAGCCAACTCTCAAGTAGGTAGTGGTATCCAGATGGGCAGAACCCCCTACGACTACATCAGCTCTGGGCTGGCTCCCACCCTTTCTACTACTCTCAAAGGTTTCCACAGGATGGAGACTGGGGTTGAGGGGGCTACTTACCACCAGCCCATACTCCTCACTGGGGGCCAGGTGGTTATCTGTGAGCATGTGGGCGGCCTGTAGGACTCGGATGATGCCCTCCATGTGGCACGTCAGGGTGAAGCAATGATGGGCCAGGATCAGGAGCTCTGTGGCTGGGAGGGTGGGCACTGGTAAGATAAGATTATGAACCCTGGCTGCCCACTGTCAACCTCTGCCTGGCAGGAGGGAAAAAGGGCCTGGTGGAGAAGGGGCCTGTCTGGAGAGGGCCGTCCCATCAGCCCTCCGAAGTCCCTGAACTTAGCAGCTGTAGCTTTGAGACAGCCCCTTGATGACATCCAAATCATTCTCTCAGTCATGGCACAATCCTCAAAGACAATCATGTAGTGACTGTTTCCCCAAAAGGCCCCCAAAATGAGAACACAGCACCCTCGCCTTCTAAACATGGAGAAACTTTCTGCAGACAAACTGATGGAGTTCCTGCCAACATGAATCCAAGGGCATTCTCTGCTTGTATCCCAGCAAAAGGTCTCAGGGCCTAATCAAGTGCCATTTGGTGTTCTGGCTTTCTAGAGTAGTGAAAGTCTGACATGTACAGATTTAAAAATACTACAATCACTGTAAGCACAATGAAAAGGCAAACTGGGAAAAACACCTGCAATGTGAGGACTGAAGAAGGTTCTCCATCCTTAAAACATGCTGTAGCCTCTGGGCTTTTGCATCTGCAGGGCCCTCTCCAGTCCTACTGACTCCTAAGCATCCCTGACAATGAATCCTTCAGGCCTTCGTTTGGACATTTCGTCCAGAACTCTATCTTGACCCCATCATTCTGGCTCTTACTGTGTATTAAGACCCTAGTCTGAGCTCCAGGAATTGCTTATACACCATATCCTAGATGCTTATAGTGTCTGGCACAAAGTTGGCACTCAGTAAATACTGTTGAACTGGACCGAGAAGAGATAGAGAAGGCTATTTTTATTTAAATTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGGCTTGCTCTGTTGCCCAGGCTGGAGTGCAGCGGCGCCATCTCCACTCACTGCGAGCTCCACCTCCCGGGTTCAGGCCATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCAACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCGCCTGGCCTTAAATTTCTTTTAGAGATGGATCTTACTCTGTTGCCCAGACTAGAGTTCAGTGTTGCAATCACAGCTCATTGCAATCTCCAACTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCTCAAGTAGCTGGGACTACAGGTGTGCACCACCATGCCCCGCTAAGTTTTTAAAAATATTTTTAGAGACAGGGTCTCACTATGTTGCCCAGATTGGTCTCAGACTCCTAGTCTCTAATTATCCTCTGCCCTCGGCCTCTCAAAAGCATTGGGATTACAGGCGTGGGCCACTGTTCCCCATTCTAATATACAGTTTTTCATTATATATAAGAAATCTGTGTAACCATTAGAAGTTATATAGAAGAATATTCAATGCCATGAAAAATGTTAATGACAGCATATTCATAAAGTAAAAAAATTATAAACTATACAGAGTATAATGTCATTTTTTAAAAAAGAGAACTTATCACACATTCTAATGAAGGCCTATAATGAGTTAGACATTATGGAAAATAAACAGGCTTTGAATCCATGGACTGGGTTCAAATACCAGCTCTGCCACTTAACAGATGTAATCAGCTTTCCTAAGGTAAAGTTTGTCTCCCTTCTAGGGGACAATAACGTTCTCTTTGCAGGGCAATATAAGAGTGAAATAAGTATGTTGAGTAAAGGTTACCTTTTTGTATGATTTTAAATTTGGGGGTACTCATCCATAATTTCTAAATTTTCTTCAGTGAAGTTAAGGCTTTCTACCAAGAACTTATAACTCCTGCTGGAGGGCTAGGCATCCAGAGCAGGAACAGGGACCCAAATCAAGTTTTGGAGAGACTGGGAGACCTTTTGAGACCTGTTTAGGGCCAAAATATGTAAGAAAAAGGTCAATAACTTACTGCAAGACAGTTCCCCATGGGGAACGGAGGAAATCTTATCCAACAACTTCATGCCTACCAATGTGCGGTCTTGACACAGAGTGGTCAGCTGAAGAAATGTCTGGCTTTCCTCTGTTGGGTTGAACATCTGCTTATGTCCTGTACAGAGAGGTGTGAAGACAGGTGCTGGTTTTATCTAAGAGAGGCCCACTCTGCCCAGGCTTAGGCACCAGGAGGTAATGCTTATGGAGCTCTGCAGCTCTCCGCTTGCTGAGCTTGAAACCCTTGGCCTATTGGTCATTTTATAGGACAGGAGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCATCCAGGCTGGAGTGCAGTGGGGTGATCTTGGCTCACTGCAACCTCAGCCTCCCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCAACACGCCCGGCTACTTTTTTGTATTTTTAGTAGAGGCGGGTTTCACTGTGTTAGCCAGGATGGTCTCTATCTCCTGACCTCGTGATCTGCCAGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGGACAGTTCTTTAGCTCAGAAAGCCACAGCTACTCCCAGTGTAATCATAAAACAATAAAAAGCAACAGCATGTATTTTGTACATGTATTTTGTAAAAAATAAAGCATGTATTTTGTTTTATTTAAACAAAATACATTACTGCAATCCAGAAACTTGAGAGAACCACATACAGGATGTATATAAGCACAACATCCAAATCCTTAACACTGGGAACTAGAGAATGCTGTCAGAGAGGTTGGGAATCCCCGGGGGGTAGGGCACCTGTTCCCTGTGATGAAGTAAGCAGCTCCCGTGTCACCTCTTCTGCCACGAGTTCAGCCACAGTATCTGGCTTAAGGCCCTGTGTGCTGATGAAGGCCTGGGCTCGTTTGCATCGGTCAGGCTGCTGAGAGGCCAAGATTTTCCGGAGCATGGCTTCACCATCCTGAGCAGCAACATCTGTGTAGGAACAGCCCAACTCCTGAGAGGAAGACAAAGCCAGTCAAGGCCACTTTTAGAAGCCAGGAAAAAGCAAAAGAGCCCTTTCTGAAATCTGATGTGGACAGACTCCACTGTATTCTGAGCTTACAGACTCCTCACCCTCAGCAGGAACCTTAGAAAAAGCAAGTACTGTTTTCTAACCCTTTCTATCATTTCACCAAAGCCAAATCCAGGTAAAAGAAAGGCTTGTATTCAGAAAGCATCAGGTTATTCTCTTGTTGGACACTTATTTTTTTGGCGGCAGGGTTGGGAGGGGTGGCAGAGTTTCACTCTTGTTGCCCAGGCTGAAGTGCAATGGCACAATCTTGGCTCACCACAACCGCTGCCTACTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGCAGCTGGGGTTACAGGCATGTGCCACCACACCCAGCTAATTTTAGTATTTTTGGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGCCCTCAAGTAATCCACCCGCCTCGGCCTCCCGAATTGCTGGGATTATAGGCATGAGCCACCATGCCCAGCCTGATTTTTAAAAATATTATGAAATGTAAGAACACCGACTAAAATACGAGAGCCTTTATTATTCCCAGAGCAGCAGCAAAACCCTCAATTTCCAAAGAAGTCTTTGAGTCTTCTCCAAGACGAGGGCTTTAGGGTTTGGCTTTATTTCTCTTGTGCTCTTCTACTTCCAGTCTACTGTTTTTCTCCCCCAAGCAGCGCAAAGGTACAGACGATTTCTGCTTCCTCTGGCTCTTGTCTTTATAGTCATCACATTCCATATGGAATGCTCCACACAATCATAATGCAAAACCCAAGATATTAAGTCTAGAAGAGACCCTCATGGTCAAATCATCATTTATAGATGACGAAACAGGGGCCCACAGCCCTAGCTTTCTGGTTTGCTGAGCTGCAGCCAGGAGTCAGATCGCCCTGGCACCTGGCCTGGTGTCCTCCCCACCATTCCCCAAAGATAAAATTATGAGGGCCAACATCCTGATAAGAGCTCTACTCCCAGGTCATGATTATCATCTAAAAGGCTGACTTGGCAATGTCCAAAATCAACCTCAAACTTCTCATTTCCCTCCCTCTCAGAAAGAGGAGCCCCACCCCTTGGCACATACCTTGGCAAGATCATACAGACAGAGGACCTGTCGACAGTAGTTCTTCCCATGGAGGCATTTGCTTGTCAGCACTTCCAGGTTAGTTACCACTTCATTACTGGAGGGCACTGTCACAAACTTCTGACTATCCAGACTTGAAGCTGGAAGCAAATACAAGTCTGAGGGGCTCTAAGCTGGGAGGTTCTGGCCTCTCCCTAGCTCTCTATGGCTCTACCTCTCTGCTTGAAGCTCCCTGCACTGCACTCCCATTACTCTGACTGGGGATAGGACCACTGCTGACAGGGCCCCACCTCAACTTCTTTCATTGCCCTCTTCCAGGAAATCCCACCCTGGGATACTTCAAAGACCTCATATGCTACAAAGATCAAGGCCACCTAATGAGTGCTCTAGAGATCAGCACCAAAGATGCTTGCCAGAGTCTTCTCTATATGTCCTCCCTCCTGTATCAAATAAGTCACCAAGTATAGCTGACTATCTCCATAACATCTCTCCAGTTGTGGCCTTAGTTCCAGCCTTCATCACTCTGCATTCTGAGGAGCTGTTATCTGTCTCCTGCTGCCAGCCCCTCACCCCCAGTCGGTCTCCAACATACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCAGGGCTCAATAGATTCTCGTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCTGGCTAATTTTTGCATTTTTAGTTGAGATGAAGTTTTGCCATGTTGATCAGGCTGGTCTCAAACTCCTGGCCTCAACTGATGCATTTGCCTCGACTTCCAAAAGTGCTGGGATTACAGGCATGGGCCACTGCACCCACCTGCAAATATGCTTTAATTTATAGTAAAATTAAAATCTATTCCTGATTTTTTTTAAAACGAAGCTCTTGGACGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTTTCTACTAAAAATTTAAAGTTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGCTCTTAGCTTAAAATAGGAGAAGATATTAATTTGATAAAGGGTTTCTATTAGGAAAAAAAAGTAAGGAATATTTATATCACACTTTGTAATGGCAAAAACAAAACAGAAAAATTTAAATGTATATCAATAAAGCATTATTCAAGCTTAGTACATCTGTACAGTGGAATACTCTGCAGCCATTAGAAAGAAGGGGGTCAGGCCAGGTGTGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAAATTAGCTGGACGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGTGGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAGAGAAAGAAGGGGGTCTATCTATATGTACTGAGAGGACAAAAATGTAGATCAATATGATGTAATCTCATTTTTTGTAAAAAATAAATATTGTGTTGCTTACAAGTAGAAAATGCATACCAAGCAAGTAAAAGATAGTTATTCTGGGGAATTTTGTGGGAGTAGTGTTGAATTGGCTTTTTTTGTGTGTGATGAAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGTGGCACCATCTCGGTTCACTGCAACCTCTGCCTCCTGAGTTCAAGCGATTCTCCTGCCTCAGACTCCAGTGTAGCTGGGATTACGGGTGTGCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGATATGAAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGTCTGAACTGACTTTTTACTTTATGCGTTTCTATGTTATGTGATTTGCTACACTAAGCACAATTTTTATTTTAAAATATTATTAAAAAGTGCTGTAGGCCAGAGGTGGTGGCTCATGCCTGTAATCCCATCATTTTGGAAGGCTAAGGTGGGAGGATCCCTGGAGCCTAGGAGTTTGAGGCCAGCCTGGGCAACACAGTGAGCCCCCACTGCTACAAAAAATTTAAAAATTAGCTGGGGATGGTAGTGTGCACCTGTAGTTCCAGCTACTTAGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCTGGAGGTTGAGTCTGCAGTGAGCCATGTTTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTATCTCAAAAAAAAAAAAAAAAACAAAACAAAAACTCTTAAAGATAAAAAAATAAAATAAAATAAAATGCAACTCAGACCATGCTATTCCCCTGCTTAAATCCTTCACTGAGAGTTCCAATTCTAGGTAAGTTGGTTATAATAAGCTCAATCTACTGTGTCTTTCCCACTGAATTCAATACAAAACCTGGACATAATACATGTGGCATACAAGGACTCTGGAAAAGTAAAAAGTAGCAGGCAAACTGAAGATGACCAGAATTATCATTATCCCCCCTCTAGCAAGCTCTGGCCTGAATGCAGCGCTGACTAAAACCTAAGAACTAAGGGCTGAGGTGAAGTGTGAGTGCGAGAGTGTGTGAATTCCAGAAGCTCTCTAGTACCAGTTTGAAGAGTGGAAAGGGGAACTCCTAATTCCTGTTCTTCCTTGTCCTGGCTCCCAAGCAAGCCACTGGCAGTGGTGGGAGAGGCTGCAGTGACAGCAGGCAAGAGCTAAGGCTCTCAGAAAGGGGAGCCTTCTTTCCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCATTGGCGTGATCTCGGCTCACTACAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGACTATAGGCGCCCGCCACCACGCGTGGCTATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTGACCTCATGATCCGCCCA", "alternateAlleleVcf": "G"}, "hgncIds": ["HGNC:11226"]} +{"accession": {"accession": "VCV000053703", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000577052", "version": 2}, "title": "NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA AND Cystic fibrosis", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2019-12-23T00:00:00Z", "submissionCount": 2}}}}], "name": "NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA", "variationType": "VARIATION_TYPE_INDEL", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2019-12-23T00:00:00Z", "dateCreated": "2018-01-25T00:00:00Z", "mostRecentSubmission": "2020-06-22T00:00:00Z", "numberOfSubmitters": 2, "numberOfSubmissions": 2}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "start": 117251776, "stop": 117252130, "displayStart": 117251776, "displayStop": 117252130, "variantLength": 355, "positionVcf": 117251776, "referenceAlleleVcf": "CAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC", "alternateAlleleVcf": "TGTTAA"}, "hgncIds": ["HGNC:1884"]} +{"accession": {"accession": "VCV000053981", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000577753", "version": 1}, "title": "NM_000492.3(CFTR):c.4_53+69del119ins299 AND Cystic fibrosis", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_CLASSIFICATION_PROVIDED", "description": {"value": "not provided", "submissionCount": 1}}}}], "name": "NM_000492.3(CFTR):c.4_53+69del119ins299", "variationType": "VARIATION_TYPE_INDEL", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_CLASSIFICATION_PROVIDED", "description": "not provided", "dateCreated": "2018-01-25T00:00:00Z", "mostRecentSubmission": "2018-01-25T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "start": 117120152, "stop": 117120270, "displayStart": 117120152, "displayStop": 117120270}, "hgncIds": ["HGNC:1884"]} +{"accession": {"accession": "VCV000057627", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051361", "version": 6}, "title": "GRCh38/hg38 22q12.3(chr22:33754145-33786313)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 22q12.3(chr22:33754145-33786313)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_22", "accession": "NC_000022.10", "innerStart": 34150132, "innerStop": 34182300, "displayStart": 34150132, "displayStop": 34182300, "variantLength": 32169}, "hgncIds": ["HGNC:6511"]} +{"accession": {"accession": "VCV000057607", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051340", "version": 4}, "title": "GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "innerStart": 116457223, "innerStop": 116492163, "displayStart": 116457223, "displayStop": 116492163, "variantLength": 34941}, "hgncIds": ["HGNC:22962"]} +{"accession": {"accession": "VCV000057653", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051388", "version": 4}, "title": "GRCh38/hg38 Xq13.2(chrX:73835373-73839625)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq13.2(chrX:73835373-73839625)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 73055208, "innerStop": 73059460, "displayStart": 73055208, "displayStop": 73059460, "variantLength": 4253}, "hgncIds": ["HGNC:12810"]} +{"accession": {"accession": "VCV000057654", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051389", "version": 5}, "title": "GRCh38/hg38 Xq21.1(chrX:79350406-79835322)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.1(chrX:79350406-79835322)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 78605903, "innerStop": 79090819, "displayStart": 78605903, "displayStop": 79090819, "variantLength": 484917}, "hgncIds": ["HGNC:6173"]} +{"accession": {"accession": "VCV000057691", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051429", "version": 5}, "title": "GRCh38/hg38 Xq28(chrX:149493233-149500929)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:149493233-149500929)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NW_004070890.2", "innerStart": 5017631, "innerStop": 5025327, "displayStart": 5017631, "displayStop": 5025327, "variantLength": 7697}, "hgncIds": ["HGNC:5389"]} +{"accession": {"accession": "VCV000057692", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051430", "version": 6}, "title": "GRCh38/hg38 Xq28(chrX:155828359-155979369)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:155828359-155979369)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 155058022, "innerStop": 155209034, "displayStart": 155058022, "displayStop": 155209034, "variantLength": 151013}, "hgncIds": ["HGNC:11486"]} +{"accession": {"accession": "VCV000057717", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051456", "version": 5}, "title": "GRCh38/hg38 Yq11.222(chrY:17473635-18640716)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.222(chrY:17473635-18640716)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 19585515, "innerStop": 20802602, "displayStart": 19585515, "displayStop": 20802602, "variantLength": 1217088}, "hgncIds": ["HGNC:1810", "HGNC:23921", "HGNC:37736", "HGNC:37737", "HGNC:23955", "HGNC:37135", "HGNC:18568", "HGNC:32425"]} +{"accession": {"accession": "VCV000057718", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051457", "version": 5}, "title": "GRCh38/hg38 Yq11.223(chrY:22028149-22349485)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.223(chrY:22028149-22349485)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 24174296, "innerStop": 24495632, "displayStart": 24174296, "displayStop": 24495632, "variantLength": 321337}, "hgncIds": ["HGNC:21504", "HGNC:23974", "HGNC:16482", "HGNC:31887"]} +{"accession": {"accession": "VCV000057842", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051582", "version": 5}, "title": "GRCh38/hg38 15q11.2(chr15:24873776-24921819)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 15q11.2(chr15:24873776-24921819)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_15", "accession": "NC_000015.9", "innerStart": 25118923, "innerStop": 25166966, "displayStart": 25118923, "displayStop": 25166966, "variantLength": 48044}, "hgncIds": ["HGNC:37462", "HGNC:11164"]} +{"accession": {"accession": "VCV000057895", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051635", "version": 5}, "title": "GRCh38/hg38 4q31.23(chr4:149956405-150119840)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4q31.23(chr4:149956405-150119840)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 150877557, "innerStop": 151040992, "displayStart": 150877557, "displayStop": 151040992, "variantLength": 163436}, "hgncIds": ["HGNC:19002"]} +{"accession": {"accession": "VCV000057925", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051667", "version": 5}, "title": "GRCh38/hg38 Xq21.1(chrX:77490616-77524711)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.1(chrX:77490616-77524711)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 76746094, "innerStop": 76780189, "displayStart": 76746094, "displayStop": 76780189, "variantLength": 34096}, "hgncIds": ["HGNC:886"]} +{"accession": {"accession": "VCV000058023", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051766", "version": 4}, "title": "GRCh38/hg38 Yp11.2(chrY:2210832-2525377)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yp11.2(chrY:2210832-2525377)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 2078852, "innerStop": 2393418, "displayStart": 2078852, "displayStop": 2393418, "variantLength": 314567}, "hgncIds": ["HGNC:18399", "HGNC:447"]} +{"accession": {"accession": "VCV000058105", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051850", "version": 5}, "title": "GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 147400637, "innerStop": 149813625, "displayStart": 147400637, "displayStop": 149813625, "variantLength": 2412989}, "hgncIds": ["HGNC:34918"]} +{"accession": {"accession": "VCV000058119", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051864", "version": 4}, "title": "GRCh38/hg38 5q32(chr5:150368321-150396843)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5q32(chr5:150368321-150396843)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 149747884, "innerStop": 149776406, "displayStart": 149747884, "displayStop": 149776406, "variantLength": 28523}, "hgncIds": ["HGNC:11654"]} +{"accession": {"accession": "VCV000058176", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051923", "version": 5}, "title": "GRCh38/hg38 13q31.3(chr13:91431897-91628212)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 13q31.3(chr13:91431897-91628212)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_13", "accession": "NC_000013.10", "innerStart": 92084151, "innerStop": 92280466, "displayStart": 92084151, "displayStop": 92280466, "variantLength": 196316}, "hgncIds": ["HGNC:4453"]} +{"accession": {"accession": "VCV000058205", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000051952", "version": 5}, "title": "GRCh38/hg38 15q13.2(chr15:30639641-30746551)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 15q13.2(chr15:30639641-30746551)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_15", "accession": "NC_000015.9", "innerStart": 30931844, "innerStop": 31038754, "displayStart": 30931844, "displayStop": 31038754, "variantLength": 106911}, "hgncIds": ["HGNC:15782"]} +{"accession": {"accession": "VCV000058285", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052036", "version": 5}, "title": "GRCh37/hg19 13q34(chr13:114739949-115085141)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 13q34(chr13:114739949-115085141)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"forDisplay": true, "assembly": "GRCh37", "chr": "CHROMOSOME_13", "accession": "NC_000013.10", "innerStart": 114739949, "innerStop": 115085141, "displayStart": 114739949, "displayStop": 115085141, "variantLength": 345193}, "hgncIds": ["HGNC:1720", "HGNC:20311", "HGNC:20331", "HGNC:20332"]} +{"accession": {"accession": "VCV000058347", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052100", "version": 5}, "title": "GRCh38/hg38 2p25.3(chr2:50661-140943)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p25.3(chr2:50661-140943)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 50661, "innerStop": 140943, "displayStart": 50661, "displayStop": 140943, "variantLength": 90283}} +{"accession": {"accession": "VCV000058369", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052122", "version": 5}, "title": "GRCh38/hg38 2p16.3(chr2:51065432-51244648)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p16.3(chr2:51065432-51244648)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 51292570, "innerStop": 51471786, "displayStart": 51292570, "displayStop": 51471786, "variantLength": 179217}} +{"accession": {"accession": "VCV000058444", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052198", "version": 5}, "title": "GRCh38/hg38 6q22.31(chr6:124116341-124499647)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6q22.31(chr6:124116341-124499647)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 124437486, "innerStop": 124820793, "displayStart": 124437486, "displayStop": 124820793, "variantLength": 383308}, "hgncIds": ["HGNC:16443"]} +{"accession": {"accession": "VCV000058417", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052171", "version": 5}, "title": "GRCh38/hg38 8q11.21(chr8:49701257-50862570)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8q11.21(chr8:49701257-50862570)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 50613817, "innerStop": 51775130, "displayStart": 50613817, "displayStop": 51775130, "variantLength": 1161314}, "hgncIds": ["HGNC:13740"]} +{"accession": {"accession": "VCV000058521", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052290", "version": 5}, "title": "GRCh38/hg38 Xp22.33(chrX:537126-718891)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.33(chrX:537126-718891)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 497861, "innerStop": 679626, "displayStart": 497861, "displayStop": 679626, "variantLength": 181766}, "hgncIds": ["HGNC:10853"]} +{"accession": {"accession": "VCV000058538", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052307", "version": 5}, "title": "GRCh38/hg38 1q31.3(chr1:196788148-196827586)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1q31.3(chr1:196788148-196827586)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 196757278, "innerStop": 196796716, "displayStart": 196757278, "displayStop": 196796716, "variantLength": 39439}, "hgncIds": ["HGNC:4888", "HGNC:16980"]} +{"accession": {"accession": "VCV000058544", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052313", "version": 4}, "title": "GRCh38/hg38 7p15.2(chr7:27154807-27422335)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7p15.2(chr7:27154807-27422335)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 27194426, "innerStop": 27461954, "displayStart": 27194426, "displayStop": 27461954, "variantLength": 267529}, "hgncIds": ["HGNC:3506", "HGNC:40223", "HGNC:37461", "HGNC:43748", "HGNC:5100", "HGNC:40281", "HGNC:5101", "HGNC:24957", "HGNC:5102", "HGNC:5108", "HGNC:5109", "HGNC:31790"]} +{"accession": {"accession": "VCV000058592", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052365", "version": 5}, "title": "GRCh38/hg38 Xp22.13(chrX:18643580-18838741)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.13(chrX:18643580-18838741)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 18661700, "innerStop": 18856859, "displayStart": 18661700, "displayStop": 18856859, "variantLength": 195160}, "hgncIds": ["HGNC:11411", "HGNC:9243", "HGNC:40463", "HGNC:10457", "HGNC:34754"]} +{"accession": {"accession": "VCV000058611", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052386", "version": 5}, "title": "GRCh38/hg38 Xp21.3(chrX:28759823-29094411)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp21.3(chrX:28759823-29094411)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 28777940, "innerStop": 29112528, "displayStart": 28777940, "displayStop": 29112528, "variantLength": 334589}, "hgncIds": ["HGNC:5996"]} +{"accession": {"accession": "VCV000058612", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052387", "version": 6}, "title": "GRCh38/hg38 Xp21.2(chrX:29713271-29740951)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp21.2(chrX:29713271-29740951)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 29731388, "innerStop": 29759068, "displayStart": 29731388, "displayStop": 29759068, "variantLength": 27681}, "hgncIds": ["HGNC:5996"]} +{"accession": {"accession": "VCV000058614", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052389", "version": 4}, "title": "GRCh38/hg38 Xp21.1(chrX:32662366-32758964)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp21.1(chrX:32662366-32758964)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 32680483, "innerStop": 32777081, "displayStart": 32680483, "displayStop": 32777081, "variantLength": 96599}, "hgncIds": ["HGNC:2928"]} +{"accession": {"accession": "VCV000058623", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052398", "version": 4}, "title": "GRCh38/hg38 16p13.3(chr16:3750305-3769722)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 16p13.3(chr16:3750305-3769722)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_16", "accession": "NC_000016.9", "innerStart": 3800306, "innerStop": 3819723, "displayStart": 3800306, "displayStop": 3819723, "variantLength": 19418}, "hgncIds": ["HGNC:2348"]} +{"accession": {"accession": "VCV000058665", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052442", "version": 5}, "title": "GRCh38/hg38 Xq22.3(chrX:105891235-106425782)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq22.3(chrX:105891235-106425782)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 105135228, "innerStop": 105669012, "displayStart": 105135228, "displayStop": 105669012, "variantLength": 533785}, "hgncIds": ["HGNC:25391", "HGNC:26583", "HGNC:11583"]} +{"accession": {"accession": "VCV000058644", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052420", "version": 5}, "title": "GRCh38/hg38 Xq21.1(chrX:77448504-77783428)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.1(chrX:77448504-77783428)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 76703995, "innerStop": 77038914, "displayStart": 76703995, "displayStop": 77038914, "variantLength": 334920}, "hgncIds": ["HGNC:886", "HGNC:3672"]} +{"accession": {"accession": "VCV000058860", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052650", "version": 4}, "title": "GRCh38/hg38 11p13(chr11:31500417-31539732)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 11p13(chr11:31500417-31539732)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "innerStart": 31521964, "innerStop": 31561279, "displayStart": 31521964, "displayStop": 31561279, "variantLength": 39316}, "hgncIds": ["HGNC:1171", "HGNC:26317"]} +{"accession": {"accession": "VCV000058795", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052584", "version": 5}, "title": "GRCh38/hg38 Yp11.2(chrY:2783624-5104946)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yp11.2(chrY:2783624-5104946)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 2651665, "innerStop": 4972987, "displayStart": 2651665, "displayStop": 4972987, "variantLength": 2321323}, "hgncIds": ["HGNC:38712", "HGNC:53998", "HGNC:15813", "HGNC:10425", "HGNC:11311", "HGNC:18569", "HGNC:12870", "HGNC:38798"]} +{"accession": {"accession": "VCV000058800", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052589", "version": 5}, "title": "GRCh38/hg38 Yp11.2(chrY:2786926-2994952)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yp11.2(chrY:2786926-2994952)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 2654967, "innerStop": 2862993, "displayStart": 2654967, "displayStop": 2862993, "variantLength": 208027}, "hgncIds": ["HGNC:10425", "HGNC:11311", "HGNC:12870", "HGNC:38798"]} +{"accession": {"accession": "VCV000058830", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052619", "version": 5}, "title": "GRCh38/hg38 6q23.3(chr6:135397890-135406717)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6q23.3(chr6:135397890-135406717)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 135719028, "innerStop": 135727855, "displayStart": 135719028, "displayStop": 135727855, "variantLength": 8828}, "hgncIds": ["HGNC:21575"]} +{"accession": {"accession": "VCV000058932", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052724", "version": 5}, "title": "GRCh38/hg38 7q35(chr7:146972827-147058018)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7q35(chr7:146972827-147058018)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 146669919, "innerStop": 146755110, "displayStart": 146669919, "displayStop": 146755110, "variantLength": 85192}, "hgncIds": ["HGNC:13830"]} +{"accession": {"accession": "VCV000058980", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052774", "version": 4}, "title": "GRCh38/hg38 20q13.33(chr20:64206685-64261836)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 20q13.33(chr20:64206685-64261836)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_20", "accession": "NC_000020.10", "innerStart": 62838038, "innerStop": 62893189, "displayStart": 62838038, "displayStop": 62893189, "variantLength": 55152}, "hgncIds": ["HGNC:7622", "HGNC:15882"]} +{"accession": {"accession": "VCV000058863", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052653", "version": 6}, "title": "GRCh38/hg38 7p21.1(chr7:18638299-18797297)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7p21.1(chr7:18638299-18797297)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 18677922, "innerStop": 18836920, "displayStart": 18677922, "displayStop": 18836920, "variantLength": 158999}, "hgncIds": ["HGNC:14065"]} +{"accession": {"accession": "VCV000058981", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052775", "version": 5}, "title": "GRCh37/hg19 21p11.1-q11.2(chr21:10953431-15707444)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 21p11.1-q11.2(chr21:10953431-15707444)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"forDisplay": true, "assembly": "GRCh37", "chr": "CHROMOSOME_21", "accession": "NC_000021.8", "innerStart": 10953431, "innerStop": 15707444, "displayStart": 10953431, "displayStop": 15707444, "variantLength": 4754014}, "hgncIds": ["HGNC:15723", "HGNC:15728", "HGNC:18821", "HGNC:23822", "HGNC:9897", "HGNC:12023"]} +{"accession": {"accession": "VCV000058901", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052692", "version": 5}, "title": "GRCh38/hg38 2q14.3(chr2:123969752-124253670)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2q14.3(chr2:123969752-124253670)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 124727329, "innerStop": 125011247, "displayStart": 124727329, "displayStop": 125011247, "variantLength": 283919}, "hgncIds": ["HGNC:18748", "HGNC:55794"]} +{"accession": {"accession": "VCV000058991", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052785", "version": 4}, "title": "GRCh38/hg38 8q11.21(chr8:50478437-50790996)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8q11.21(chr8:50478437-50790996)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 51390997, "innerStop": 51703556, "displayStart": 51390997, "displayStop": 51703556, "variantLength": 312560}, "hgncIds": ["HGNC:13740"]} +{"accession": {"accession": "VCV000059032", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052826", "version": 5}, "title": "GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_21", "accession": "NC_000021.8", "innerStart": 35740989, "innerStop": 35901381, "displayStart": 35740989, "displayStop": 35901381, "variantLength": 160393}} +{"accession": {"accession": "VCV000058920", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052712", "version": 5}, "title": "GRCh38/hg38 11q22.3(chr11:103328808-103570897)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 11q22.3(chr11:103328808-103570897)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "innerStart": 103199536, "innerStop": 103441625, "displayStart": 103199536, "displayStop": 103441625, "variantLength": 242090}, "hgncIds": ["HGNC:2962"]} +{"accession": {"accession": "VCV000058929", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052721", "version": 5}, "title": "GRCh38/hg38 7q35(chr7:146652508-146770440)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7q35(chr7:146652508-146770440)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 146349600, "innerStop": 146467532, "displayStart": 146349600, "displayStop": 146467532, "variantLength": 117933}, "hgncIds": ["HGNC:13830"]} +{"accession": {"accession": "VCV000059054", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052850", "version": 5}, "title": "GRCh38/hg38 9p24.2(chr9:2682523-2784028)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p24.2(chr9:2682523-2784028)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 2682523, "innerStop": 2784028, "displayStart": 2682523, "displayStop": 2784028, "variantLength": 101506}, "hgncIds": ["HGNC:19698"]} +{"accession": {"accession": "VCV000058960", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052753", "version": 6}, "title": "GRCh38/hg38 8p22(chr8:16095273-16164235)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8p22(chr8:16095273-16164235)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 15952782, "innerStop": 16021744, "displayStart": 15952782, "displayStop": 16021744, "variantLength": 68963}, "hgncIds": ["HGNC:7376"]} +{"accession": {"accession": "VCV000059071", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052868", "version": 5}, "title": "GRCh38/hg38 22q11.21(chr22:18917596-19027938)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 22q11.21(chr22:18917596-19027938)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_22", "accession": "NC_000022.10", "innerStart": 18905109, "innerStop": 19015451, "displayStart": 18905109, "displayStop": 19015451, "variantLength": 110343}, "hgncIds": ["HGNC:17864", "HGNC:16757", "HGNC:17227", "HGNC:9453"]} +{"accession": {"accession": "VCV000059122", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052920", "version": 4}, "title": "GRCh38/hg38 9q22.32(chr9:95465690-95468549)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9q22.32(chr9:95465690-95468549)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 98227972, "innerStop": 98230831, "displayStart": 98227972, "displayStop": 98230831, "variantLength": 2860}, "hgncIds": ["HGNC:9585"]} +{"accession": {"accession": "VCV000059031", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052825", "version": 4}, "title": "GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_21", "accession": "NC_000021.8", "innerStart": 35740918, "innerStop": 35900417, "displayStart": 35740918, "displayStop": 35900417, "variantLength": 159500}} +{"accession": {"accession": "VCV000059161", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052961", "version": 4}, "title": "GRCh38/hg38 2q33.1(chr2:199278605-199372542)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2q33.1(chr2:199278605-199372542)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 200143328, "innerStop": 200237265, "displayStart": 200143328, "displayStop": 200237265, "variantLength": 93938}, "hgncIds": ["HGNC:21637"]} +{"accession": {"accession": "VCV000059103", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052901", "version": 4}, "title": "GRCh38/hg38 9p21.3(chr9:20380587-20478578)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p21.3(chr9:20380587-20478578)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 20380585, "innerStop": 20478576, "displayStart": 20380585, "displayStop": 20478576, "variantLength": 97992}, "hgncIds": ["HGNC:41540", "HGNC:7136"]} +{"accession": {"accession": "VCV000059162", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052962", "version": 4}, "title": "GRCh38/hg38 2q33.1(chr2:199309935-199403802)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2q33.1(chr2:199309935-199403802)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 200174658, "innerStop": 200268525, "displayStart": 200174658, "displayStop": 200268525, "variantLength": 93868}, "hgncIds": ["HGNC:21637"]} +{"accession": {"accession": "VCV000059070", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052867", "version": 6}, "title": "GRCh38/hg38 22q11.21(chr22:18902758-19012349)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 22q11.21(chr22:18902758-19012349)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_22", "accession": "NC_000022.10", "innerStart": 18890271, "innerStop": 18999862, "displayStart": 18890271, "displayStop": 18999862, "variantLength": 109592}, "hgncIds": ["HGNC:16757", "HGNC:2846", "HGNC:9453"]} +{"accession": {"accession": "VCV000059188", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052992", "version": 5}, "title": "GRCh38/hg38 Xp22.33(chrX:27245-270490)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.33(chrX:27245-270490)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 77245, "innerStop": 187157, "displayStart": 77245, "displayStop": 187157, "variantLength": 109913}} +{"accession": {"accession": "VCV000059149", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052949", "version": 4}, "title": "GRCh38/hg38 2q22.3(chr2:144461848-144665266)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2q22.3(chr2:144461848-144665266)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 145219415, "innerStop": 145422833, "displayStart": 145219415, "displayStop": 145422833, "variantLength": 203419}, "hgncIds": ["HGNC:50704", "HGNC:56105", "HGNC:14881", "HGNC:37149"]} +{"accession": {"accession": "VCV000059233", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053054", "version": 5}, "title": "GRCh38/hg38 Xp22.31(chrX:6832908-6906043)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.31(chrX:6832908-6906043)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 6750949, "innerStop": 6824084, "displayStart": 6750949, "displayStop": 6824084, "variantLength": 73136}, "hgncIds": ["HGNC:16818"]} +{"accession": {"accession": "VCV000059240", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053062", "version": 4}, "title": "GRCh38/hg38 Xp22.11(chrX:22099135-22109767)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.11(chrX:22099135-22109767)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 22117253, "innerStop": 22127885, "displayStart": 22117253, "displayStop": 22127885, "variantLength": 10633}, "hgncIds": ["HGNC:8918"]} +{"accession": {"accession": "VCV000059263", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053086", "version": 4}, "title": "GRCh38/hg38 Xp21.1(chrX:32432957-32823439)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp21.1(chrX:32432957-32823439)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 32451074, "innerStop": 32841556, "displayStart": 32451074, "displayStop": 32841556, "variantLength": 390483}, "hgncIds": ["HGNC:2928", "HGNC:38955", "HGNC:35309"]} +{"accession": {"accession": "VCV000059361", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053198", "version": 5}, "title": "GRCh38/hg38 1p31.3(chr1:66026161-66280387)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1p31.3(chr1:66026161-66280387)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 66491844, "innerStop": 66746070, "displayStart": 66491844, "displayStop": 66746070, "variantLength": 254227}, "hgncIds": ["HGNC:8781", "HGNC:40437"]} +{"accession": {"accession": "VCV000059360", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053197", "version": 5}, "title": "GRCh38/hg38 1p31.3(chr1:65969909-66128534)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1p31.3(chr1:65969909-66128534)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 66435592, "innerStop": 66594217, "displayStart": 66435592, "displayStop": 66594217, "variantLength": 158626}, "hgncIds": ["HGNC:8781", "HGNC:40437"]} +{"accession": {"accession": "VCV000059400", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053242", "version": 4}, "title": "GRCh38/hg38 10q23.1(chr10:82322554-82359096)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 10q23.1(chr10:82322554-82359096)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 84082310, "innerStop": 84118852, "displayStart": 84082310, "displayStop": 84118852, "variantLength": 36543}, "hgncIds": ["HGNC:7999"]} +{"accession": {"accession": "VCV000060008", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053880", "version": 4}, "title": "GRCh38/hg38 1p21.1(chr1:102915924-102966355)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1p21.1(chr1:102915924-102966355)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 103381480, "innerStop": 103431911, "displayStart": 103381480, "displayStop": 103431911, "variantLength": 50432}, "hgncIds": ["HGNC:2186"]} +{"accession": {"accession": "VCV000059585", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053428", "version": 4}, "title": "GRCh38/hg38 17q11.2(chr17:31223174-31246335)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 17q11.2(chr17:31223174-31246335)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_17", "accession": "NC_000017.10", "innerStart": 29550192, "innerStop": 29573353, "displayStart": 29550192, "displayStop": 29573353, "variantLength": 23162}, "hgncIds": ["HGNC:7765"]} +{"accession": {"accession": "VCV000060144", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054018", "version": 5}, "title": "GRCh38/hg38 2p16.3(chr2:50851255-50995129)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p16.3(chr2:50851255-50995129)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 51078393, "innerStop": 51222267, "displayStart": 51078393, "displayStop": 51222267, "variantLength": 143875}, "hgncIds": ["HGNC:8008"]} +{"accession": {"accession": "VCV000060264", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054138", "version": 4}, "title": "GRCh38/hg38 Xp22.31(chrX:8695720-8700128)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.31(chrX:8695720-8700128)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 8663761, "innerStop": 8668169, "displayStart": 8663761, "displayStop": 8668169, "variantLength": 4409}, "hgncIds": ["HGNC:6211"]} +{"accession": {"accession": "VCV000060305", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054181", "version": 5}, "title": "GRCh38/hg38 Xp11.3(chrX:46456409-46476928)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp11.3(chrX:46456409-46476928)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 46315844, "innerStop": 46336363, "displayStart": 46315844, "displayStop": 46336363, "variantLength": 20520}, "hgncIds": ["HGNC:26007"]} +{"accession": {"accession": "VCV000059978", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053850", "version": 5}, "title": "GRCh38/hg38 20q12(chr20:42560011-42713556)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 20q12(chr20:42560011-42713556)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_20", "accession": "NC_000020.10", "innerStart": 41188651, "innerStop": 41342196, "displayStart": 41188651, "displayStop": 41342196, "variantLength": 153546}, "hgncIds": ["HGNC:9682"]} +{"accession": {"accession": "VCV000060111", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053984", "version": 5}, "title": "GRCh38/hg38 1q42.2(chr1:230693760-230780212)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1q42.2(chr1:230693760-230780212)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 230829506, "innerStop": 230915958, "displayStart": 230829506, "displayStop": 230915958, "variantLength": 86453}, "hgncIds": ["HGNC:333", "HGNC:1486", "HGNC:6546"]} +{"accession": {"accession": "VCV000059248", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053070", "version": 4}, "title": "GRCh37/hg19 21q22.1(chr21:35292816-36834601)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 21q22.1(chr21:35292816-36834601)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"forDisplay": true, "assembly": "GRCh37", "chr": "CHROMOSOME_21", "accession": "NC_000021.8", "innerStart": 35292816, "innerStop": 36834601, "displayStart": 35292816, "displayStop": 36834601, "variantLength": 1541786}, "hgncIds": ["HGNC:2065", "HGNC:6240", "HGNC:6242", "HGNC:14051", "HGNC:3040", "HGNC:10471", "HGNC:11038", "HGNC:1293"]} +{"accession": {"accession": "VCV000060202", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054076", "version": 4}, "title": "GRCh38/hg38 4q32.1(chr4:157385121-157506916)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4q32.1(chr4:157385121-157506916)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 158306273, "innerStop": 158428068, "displayStart": 158306273, "displayStop": 158428068, "variantLength": 121796}} +{"accession": {"accession": "VCV000060226", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054100", "version": 5}, "title": "GRCh38/hg38 5p15.2(chr5:11388771-11462289)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5p15.2(chr5:11388771-11462289)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 11388883, "innerStop": 11462401, "displayStart": 11388883, "displayStop": 11462401, "variantLength": 73519}, "hgncIds": ["HGNC:2516"]} +{"accession": {"accession": "VCV000060251", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054125", "version": 4}, "title": "GRCh38/hg38 2q24.3(chr2:166044436-166079787)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2q24.3(chr2:166044436-166079787)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 166900946, "innerStop": 166936297, "displayStart": 166900946, "displayStop": 166936297, "variantLength": 35352}, "hgncIds": ["HGNC:10585"]} +{"accession": {"accession": "VCV000060257", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054131", "version": 4}, "title": "GRCh38/hg38 5p14.3(chr5:21852725-21964074)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5p14.3(chr5:21852725-21964074)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 21852834, "innerStop": 21964183, "displayStart": 21852834, "displayStop": 21964183, "variantLength": 111350}, "hgncIds": ["HGNC:1751", "HGNC:51397"]} +{"accession": {"accession": "VCV000059399", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053241", "version": 4}, "title": "GRCh38/hg38 10q21.3(chr10:66544198-66756820)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 10q21.3(chr10:66544198-66756820)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 68303956, "innerStop": 68516578, "displayStart": 68303956, "displayStop": 68516578, "variantLength": 212623}, "hgncIds": ["HGNC:2511"]} +{"accession": {"accession": "VCV000060289", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054163", "version": 5}, "title": "GRCh38/hg38 Xp21.1(chrX:32720062-32797373)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp21.1(chrX:32720062-32797373)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 32738179, "innerStop": 32815490, "displayStart": 32738179, "displayStop": 32815490, "variantLength": 77312}, "hgncIds": ["HGNC:2928"]} +{"accession": {"accession": "VCV000060310", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054186", "version": 5}, "title": "GRCh38/hg38 Xp11.22(chrX:53374742-53543761)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp11.22(chrX:53374742-53543761)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 53401663, "innerStop": 53570722, "displayStart": 53401663, "displayStop": 53570722, "variantLength": 169060}, "hgncIds": ["HGNC:4800", "HGNC:30892", "HGNC:50263", "HGNC:26537", "HGNC:11111"]} +{"accession": {"accession": "VCV000060325", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054201", "version": 4}, "title": "GRCh38/hg38 Xq12(chrX:68274851-68352331)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq12(chrX:68274851-68352331)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 67494693, "innerStop": 67572173, "displayStart": 67494693, "displayStop": 67572173, "variantLength": 77481}, "hgncIds": ["HGNC:8148"]} +{"accession": {"accession": "VCV000060335", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054213", "version": 5}, "title": "GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 77085352, "innerStop": 77113548, "displayStart": 77085352, "displayStop": 77113548, "variantLength": 28197}, "hgncIds": ["HGNC:28880"]} +{"accession": {"accession": "VCV000060355", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054233", "version": 6}, "title": "GRCh38/hg38 Xq23(chrX:114991761-115149960)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq23(chrX:114991761-115149960)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NW_004070891.1", "innerStart": 660563, "innerStop": 818762, "displayStart": 660563, "displayStop": 818762, "variantLength": 158200}, "hgncIds": ["HGNC:5975", "HGNC:29292", "HGNC:52202"]} +{"accession": {"accession": "VCV000060366", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054244", "version": 6}, "title": "GRCh38/hg38 Xq25(chrX:123469532-123590128)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq25(chrX:123469532-123590128)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 122603383, "innerStop": 122723979, "displayStart": 122603383, "displayStop": 122723979, "variantLength": 120597}, "hgncIds": ["HGNC:4573"]} +{"accession": {"accession": "VCV000059549", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053392", "version": 6}, "title": "GRCh38/hg38 6q26(chr6:161841164-162004649)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6q26(chr6:161841164-162004649)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 162262196, "innerStop": 162425681, "displayStart": 162262196, "displayStop": 162425681, "variantLength": 163486}, "hgncIds": ["HGNC:8607"]} +{"accession": {"accession": "VCV000059594", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053437", "version": 5}, "title": "GRCh38/hg38 7p14.3(chr7:33130103-33146967)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7p14.3(chr7:33130103-33146967)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 33169715, "innerStop": 33186579, "displayStart": 33169715, "displayStop": 33186579, "variantLength": 16865}, "hgncIds": ["HGNC:30000"]} +{"accession": {"accession": "VCV000059651", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053501", "version": 4}, "title": "GRCh38/hg38 7q31.1(chr7:109678976-110483783)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7q31.1(chr7:109678976-110483783)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 109319033, "innerStop": 110123840, "displayStart": 109319033, "displayStop": 110123840, "variantLength": 804808}} +{"accession": {"accession": "VCV000059967", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053838", "version": 5}, "title": "GRCh38/hg38 1p34.1(chr1:44838131-44841480)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1p34.1(chr1:44838131-44841480)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 45303803, "innerStop": 45307152, "displayStart": 45303803, "displayStop": 45307152, "variantLength": 3350}, "hgncIds": ["HGNC:9586"]} +{"accession": {"accession": "VCV000060084", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053956", "version": 6}, "title": "GRCh38/hg38 3p14.2(chr3:60460013-60532126)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p14.2(chr3:60460013-60532126)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 60445746, "innerStop": 60517859, "displayStart": 60445746, "displayStop": 60517859, "variantLength": 72114}, "hgncIds": ["HGNC:3701"]} +{"accession": {"accession": "VCV000060110", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000053983", "version": 5}, "title": "GRCh38/hg38 2p16.3(chr2:50485201-50531213)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p16.3(chr2:50485201-50531213)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 50712339, "innerStop": 50758351, "displayStart": 50712339, "displayStop": 50758351, "variantLength": 46013}, "hgncIds": ["HGNC:8008"]} +{"accession": {"accession": "VCV000060336", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054214", "version": 5}, "title": "GRCh38/hg38 Xq21.1(chrX:80629216-80762500)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.1(chrX:80629216-80762500)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 79884715, "innerStop": 80017999, "displayStart": 79884715, "displayStop": 80017999, "variantLength": 133285}, "hgncIds": ["HGNC:17342"]} +{"accession": {"accession": "VCV000060453", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000054353", "version": 5}, "title": "GRCh38/hg38 Yq11.222(chrY:17473635-18712542)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.222(chrY:17473635-18712542)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-28T00:00:00Z", "mostRecentSubmission": "2015-06-28T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 19585515, "innerStop": 20874428, "displayStart": 19585515, "displayStop": 20874428, "variantLength": 1288914}, "hgncIds": ["HGNC:1810", "HGNC:23921", "HGNC:37736", "HGNC:37737", "HGNC:23955", "HGNC:37135", "HGNC:18568", "HGNC:32425"]} +{"accession": {"accession": "VCV000065491", "version": 2}, "rcvs": [{"accession": {"accession": "RCV000055678", "version": 2}, "title": "NM_002529.4(NTRK1):c.1354+13_1634del AND Hereditary insensitivity to pain with anhidrosis", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2008-08-05T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_002529.4(NTRK1):c.1354+13_1634del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2008-08-05T00:00:00Z", "dateCreated": "2013-10-02T00:00:00Z", "mostRecentSubmission": "2013-10-02T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "start": 156844810, "stop": 156846190, "displayStart": 156844810, "displayStop": 156846190, "variantLength": 1381, "positionVcf": 156844809, "referenceAlleleVcf": "GGGCTGCAGAGGGCTGTCTGTCTGTCTGTTCTCCTGGCTTTGTTTCCTACTGGCTCTTCCTGACTCTGTCTCTGGGGGGCTGTGCACATGGGAGTTCCAGGGCGTGTGAGTGTGTTTGGGGTATAAATGAAGGCCTGGCTGTGAGGCTTGTGAGTGTGAGTGTGTGTGGGAGCGTGTGTCGGGCTGGTGCTGGGGTAGTTTCAGAGGCGGCAGCTGCTAATTGGTGGCTGGATTGTAGTCAAGCATTAAGTGGGTCTGGGAGGTCTGGGCTCTGTGGGGGTGGAGGGGGAGTTCTTTGGTGCCCATGGGGCCAGGGGTGGGACAGGAGCCAGCACAGGGAGAGGCGGTGGTGCCCCCTTCCCCCTGCCTGCTGTCTCGCTCCCTAGCTTCTCAGTCTCTCCCCTGCAAGTTACAAGGTGGGGGTGACCAGGCATCCTGCAGGCAAGGGTGGGCAGGGCCAAGGTGTGGGCAAACCCCTCCATGCGGCTGTGTCTCCTCTCTAGGCCCGGCTGTGCTGGCTCCAGAGGATGGGCTGGCCATGTCCCTGCATTTCATGACATTGGGTGGCAGCTCCCTGTCCCCCACCGAGGGCAAAGGCTCTGGGCTCCAAGGCCACATCATCGAGAACCCACAATACTTCAGTGATGCCTGTGAGGGGCTATGCTGGGTCAAGGGCAGGGACGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAAGCCCCTAGGCCTGAACGATCCCTCCCTTTCTCCCACCCCTCCCCAGCCCTATTCCAGCCATAGGCCCTGTCATATTCTTCTCAGGCTGAGTCCAGCCTGGCTCTTAGCTGCATCCCCTGCCCAGAGTCACAGCTAGCCCAAACCATGTCCTCTCGGGGCAGGTGCAGCCCCACACTATGACATGGGGCTTGCTGAAGGGGTGCAGGTTGAATTTTAGCCCCCATGCAGTCCCTCGTCTGGGCAGCCTTGTGCAGCACACAGCCCTGCCAAGACAGTCCCCGCTACAACCCCAGCCCTCCCAAGACTGGGGCTACCGTCTGACCCTGCAAGCCCCCTCAGGTGTTCACCACATCAAGCGCCGGGACATCGTGCTCAAGTGGGAGCTGGGGGAGGGCGCCTTTGGGAAGGTCTTCCTTGCTGAGTGCCACAACCTCCTGCCTGAGCAGGACAAGATGCTGGTGGCTGTCAAGGTGAGACCCTGCCCCGGGGGGTACTGCTGGCCTGGGTCCCACCCCCAGGAGCTCCATCACATCAGGACAGAGTGGGGGGAGATGCAGAGGGCTGACATGGCTGGATACCGGGGTGGGCGGGCTGCCCTGGGTGAACAGCAGTGAGGGCTCGGCCCCCAACTCAGTCCTGTCCCTGCCGCTTCCATCCA", "alternateAlleleVcf": "G"}, "hgncIds": ["HGNC:8031"]} +{"accession": {"accession": "VCV000066044", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000056283", "version": 3}, "title": "NM_018076.5(ODAD2):c.382+995_936+335del AND Primary ciliary dyskinesia 23", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-04-03T00:00:00Z", "submissionCount": 2}}}}], "name": "NM_018076.5(ODAD2):c.382+995_936+335del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Pathogenic", "dateLastEvaluated": "2013-04-03T00:00:00Z", "dateCreated": "2013-11-30T00:00:00Z", "mostRecentSubmission": "2015-10-11T00:00:00Z", "numberOfSubmitters": 2, "numberOfSubmissions": 2}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "start": 28270060, "stop": 28275320, "displayStart": 28270060, "displayStop": 28275320, "variantLength": 5261, "positionVcf": 28270059, "referenceAlleleVcf": "TAGAAATAGCAGATCAGAGTTAACCAGGAAGTCAGGGAAGAAGGAATGGGGAATTATTGCTTAATGGGTGTAGAGTTCAAGTTCGAGAGACGAAAAAGACTTGGAAATTGACAATAGTGATATTTGTACAACATTGTGAATGTAATTAATGCCATTGAACCCTGAACAATGATACTACATTTACAGTATTTTTATGTTATGTTATGTTGTAAAAAAAAACCACTAATAATAAAAAGTGCCCAAAAATAGGCAAAATTACTGTTTTTCTTGTACCATAGAAAGTTGTAGTTTAGTAACATAATGCTATGAAAGCTCAAAAGAAACCATAAAACTTACCAATTTAGACATATTTTCTGAAAATTTTGGTGATTTTTCTCTTAAAAATGTGACAAGGTTTTTATAAATTGAACCTTTTCTCTCATAATTAACGTCCCCTTCATCATCTGTTTTGCCCTTTGGGAAAAAACAAGTTTCATTCTATGATTAACATAAGAACAATTGTAAGAAGCTGATCAATACATCACAAGCTAGCCACACGTATTATTTTCATCTCCGAAGGATCTATATGGTAGTTTTAATACAGGAAATGTATAGGCAAAATCCTTCCCCCTTAATTTAATGTTATCTATTTTTCCATTCATTCACTCATTCCTTCCTTCATTCAATTGTTCATTCATTCAGCAAGGCTTTACTGAGTACCTCCTATATGCATGTAAGGCACTCTGCTGTTCAGCAGAGAAGTGAGAGCTTCCTTCTCTCCGCTCTCCTCTACTCTGAAAATGCATTATGACCTCACGAGCCTTAGTTGATGATGTCATAAAAGTCTTCAAGGTTAGAATTTAACCGTGGAAAAGCCTACATTTCTGTTTGTCACACTCTGTTCTTCTGTCTGTGGCATGGTTGCTATAGGCTTATTTTCTAGATCTCTGTGTAACGATCTGTCCACACACCCATGTGTCTCTCTCTCTCTTCTTGTCTCTTTCCTTTCCTCATTTTCCTTTTCTTCCCTACCTCTATTGTTCTTCCATAACAGAATATATATATATAATGTATACACACATCACATAACTATATGTATATAAATACATATAACTGCAGTTTGTTATATATAACTGTATACACAAAAACATTTCTATACGTATGACCAGTGTGTTTTAAACTTTGTTGTAATTATTGAGTAGTTTTATGGTCCTTGTCTTTCATTTTTTTAAAACTTAAAGGGATACTTAGATATCTCCATGCTAAATAAGTTATATGTATGTAGATCAATAATAACCTTTGATAGAAATAAAGACTCCCTGCCCCCCTCCAGAAGGTCAAAGAAAATCATTCCTTCTTTTGTCCCTTTATTCCTAATTAGAGATTTCGTTTTTCTAAAATATCATAAACCAAAGCAAAATCTTATTTGTCTACTGCCTCTTTGTAGAAATGAGCTCAGTGTCATGCTAATAAGAAAAGCACCAAAAGGCATGTCAGAAAGATAACTATAGGTAATCAGAAAAGAGGCTCCAGCATTTTGGTACCAACCCAAGCCAACATGTAACAACCCTCCAGGCAGTCCCCCGTGATGGCTGGGTCCCCATTAAGGACTTGGATCCTCCTTGTAGAATTTTGTTTCTGAGTTCCAAATTTATGTTGAAGATACTGAGGGCAGGATGTTGCAGAGGTGAAAGCTAAGCTCCTTCTAGCTGGTTCTGTGAATAGGGATGAGACTGAAAGTGTTTTAATCCAGAACACTGTGTGCTGTTTATCACTCAGCTCAAAGCCCAGCCACCCAGCCTCTACTTTGTGCTACTCACGCAGGAATCTGCAATGTCGTATTTCTCCTTTCACCAGGCTAGGTTATTAGGCTCCGTCATTAGAATCAGCTAAAGGAAGACTGAAAGGCTGGCAGAGGGAGGAGGGACCTGCTGCTTCCTGCTGGCCCACTGTCCCTGTTAGAGTCACCCCAGCAACGGCCCTTCTTTCCACACAGTGGCAGTTGCTTCCAGTAGCAACAGTTGGTTCCAGTTTCCAGGTTTGTTGATTTTTCACGGTCCCAGAAACAGGCTCACCTCACCCCCTGGGAAATATCACTATCAGTCATCCAGTGCTCCATTTTCAAAGGTCCAGGTCCCAGCTCTGCCATCTCTACAAGGATCCTCTTCCCGAGGTATGAGCATTAACTGGGCAGTGCCCACTCTTCAGAGATCTGGAGCCCTGCCTCATGGAGATGGTCTGAACTCTGTGGGGACCAGCACAGCCTGGAAGTGGACCCTCCCAAGAGGTCTGGGTCCCAGCTTCATAGGGCACTGTCTCCTACCTTCTACATTTAGATAAGCCCCTCTCTTTCCCTTTGTCCCTCCAACTCTTAGGATGCAAGCTGCAGTTATGACATCTGTATTATCTCAATGTTTCTTTTTTGACCTTTCTATCATTTGGAAGCTGTGTAATGAATCAGTGAAGTGATTACGTTAAAGACATTTATAAAGTGGAATGGGTCACTTTGAAGCCCATTTCTTATCAGATTGGCTTAATGACCTGCAGTGGAGAATAAGAGAGCTAATTCTGAAGCTATTTTGGATTTGCCCAGCAAGCATATATCAAAGGAATCTGCTTCTATCCCACAGAATGGTAATTCATTCTCTGTGGTCATTGGGACACACCCTTGAGACATCTACAGCTAACAATCAAAGTCCACTGGCTTTAGTTACGTTTTTAAAAATTTACTTACACCATTTAAAAATACTCCTCCTGCACTGCAAGTAATGCACAGAGTCTCACCATCGTGAGGTTTCACCAGCACATAACAAATTTCCCCACGAATTTGTCTCCACGGTGGGGCTCGACATCCATTTGAAAATTCATAATCTGAAACCAATCATCAAGCAATTAACAGGAGTTCCTTAACCTAGAGTTTGGTAAAAAGTGTTGGCTTCCACAAAATAAATATTGTGGAAATTTTAAGCTTTCCCCTTCTTAAACCTTCTCTTGTAATGTAGACATTGAAAGCATTTTGCAAATGTAATTATGAAAATGTAAATAACATAAAATGAGCCTGAGAAAACATCAAACCTGAGGTATATTCAATAGATTCCAAGACTGTTTGGTTTCCTTTTCCTGAGAAACGTTTGAGCAGTTCTATATCCTTCTTCACCGTCATGGGACTTAAACTTATTTCTCTGAAATAAATGTTTAAAATGTCAGCTTAAATACTTTAAACAGAATCTAGGAAACACATGAACACATTTCATTGTATCAGGAGAAATATCTTTTTTGTAATTAAAATTGCAGTTAATTTTAGCCGTGCTATAATTTTATAACAGCACTGTCAACACATCAAGTAATTAGTGATTTATGTTTAATGCAACATTAAACGTACTCCATTAAATATTCACTTTATTTCATGCTGATAATATTCTAACACTAAAAATATTAGAAAATGAACATGCTTTGGACTATACAAACTCTACATGATATCTGCATTATAATTTAATAATTTGTGTAATAGTCTTGAGAGCATTTGAAAATAACAAGACCACCTAATGTCTTCAGAATTGCATGAAACCCCACCAGAATGTTTTCGTGATGTCACCTGCAATTTTTAATTTTTAGAACTGGAATAAATGAATCCCAGGAAAATTGTTTGTTCCAATAAAATGTAAAGTTAAATCCATAGCAATAACTTCCATACTTTACTTTTCTTGTGTCTTTTTTTCTAAAACTCTGAAAGCAACTTTGTAACTAATTTTTAAAGGTTCCTTTTTAATTTTTTAATTTTAATTGTAATATTTTATTATTTATTTAACTATCTATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTTCAGTGGTGCAATCTTGGCTCAATACAATAGAGGTTCCTTTTTGAAAAAGACTCACAATGAAATATGTTTTAGAGAATGATTGAGGAGGTGCAGATCCAATTGCTTAAGCAGCATAGCAATCTTCATCTTAATTTCACTTTCAGGATCATCATCTCTGGTAATTTTGCCAAGAATATTTAATGCAATTGAGTTTTCTTTCATTGTATTATAATCAGAGCCCAGGATTTTTACTATGGGGTCTCTGTTAGCTGCCAAAAAAAAAAAAAAGGAGACAAATAAAAATTATCCACTTGTCTTCTAGTACAACAAACATTAAGACTAATAAATCCTTCAAAGTCCATTCAGACGTGTTTCTTTCATTAAGCTTTTTCTAAACGACCCAATTAGAATTCATCTCTACGTCTGAGATTCCATTGCTTTTAGGAACTTTCTTCTACTTCACGAGATGCTCTAGTTTGTATTGTAACATCATCTATATATCTCCCTAATAGCACAAAGACCAAGACAGTCATTCATTCTTTCTTTTTTAATTGGCCGTGGGGCATTGTTCAGAATGCACATTCAATTAATACATTCAGAATTTATTTGAAGATGGAGAAATAGTGATCTTCTTAGAAGAATCATCACTAGAACTATATGTGCATGTGTGTATGTGTGTGTAGCAGTGCTGGGTATTTATAAAGGCTTTCTTTCCAAAATAGCATGCTTTCCTAAGCCTACAGACCCAGTAGCACTCTTTTGCAAGTATTCAAACAGCTTAATATTTGCAATGCCATATGATCTTAGAGTTGGAAAGCACATCTAGCCATATACATAATATATACATAATTTAATTATATATATATTAAAATTATAGTGAAAAACAAATACCAATTCATTATCAAGGCTGATACAGATGTGAAAGTTGAACCTAGAGATGTTGAAAACAGAATTTGGTTAATGTCAAAAACCAATATGGTTGAAAATGAAGGAGAAAGTGGAAAACCCTTGTTTAGAATGGAGAAATTTGAGAAAGATGAAAATATGTATGCATTGAGATGGGGGTGGAGAGGAAGGCCTATGAGACTAATTCAGAAAGCTTAACTTAAAGGAAATGAAGAAAAGTATAGTGAAGGCATTAACATTCCCATGTGGTCATGGGATATGCCAAGGCCTTAAGGCTGAGAAAAGGACTTCACTGGGGGAGAGGAGAGCAGCGAAAAGGAGACAAAGGAATCAACCATTTATTGAGCATCTCAACTTAACAACCTTATGACTGTCATCACACAGAGATTTACAAAAAGAGCAGGCAGATTCTGAGGAATGGCATAAACCTGACTACCAAATTGCCATGTACCATGCAACTTGGACCTGAAACTAAGGGTTATACCAAAATTCTTGCAGAAATGGCAAAATGTAGCAAAGGATAAGTATTTAGCAAATGGATAA", "alternateAlleleVcf": "T"}, "hgncIds": ["HGNC:25583"]} +{"accession": {"accession": "VCV000068445", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000059315", "version": 3}, "title": "NC_000023.11:g.153696346_153701690del AND Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-09-05T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000023.11:g.153696346_153701690del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2013-09-05T00:00:00Z", "dateCreated": "2019-01-13T00:00:00Z", "mostRecentSubmission": "2019-01-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "start": 152961800, "stop": 152967144, "displayStart": 152961800, "displayStop": 152967144, "variantLength": 5345, "positionVcf": 152961799, "referenceAlleleVcf": "TCCCACGTCCAGGCTTAAGGTGGATGCACTTCCCGCACCTCCAGTCTTCTGTGTAGCAGCTTTAACCCACGTTTGTCTGTCACGTCCAGTCCCGAGACGGCTGAGTGACCCCAAGAAAGGCTTCCCCGACACCCAGACAGAGGCTGCAGGGCTGGGGCTGGGTGAGGGTGGCGGGCCTGCGGGGACATTCTACTGTGCTAAAAAGCCACTGCAGACATAGCAATAAAAACATGTCATTTTCCAAAGCAGGCTCCTGCTTCCGCCTCTGCTGCTCTAAGGAAGGGGTCGGGGTACAGGAGGCAGGGGGAACCTCCTCCAGCTGGAGCTGCTGCCGTGAGCAAGGCTCTGCTCTGGAGGCCTCTGCGGCCGGCACCCTTCTGGGGACTGGGAAGGGGGCAGGGAAGGCAGCAGCCCAGGGGAAGGCCTTGTCCCCCTGGAGCCGAGGCAGTTGGGGAGAGCAGGACGAGAGTGAGCTGGAGAGCAGCCACACCCGCGGGGAAGGGTGGGCGTAAAGCCATGGGTGCTGAAATTTTCAAAATGTTACCCCAAGAATTTGTCACTGAACAGGTGCCTTGTGTCACTTGGGCCAGGCTGGTAGCAGCAGAGGGGATAACTCTGCATCAGGGATCAATTTTGAAGGTGGAGCCAATAGGGGTTGTGCATGACCAGGATGCAGGGCTCAAAGAGGAGTTAAGGACAACAGATTTGGCCTGAGCAAGAGGAAAGATGGAGCTGCCAGGTCCTGCAATGGGGAGGCAAGGAGAGAATGGTCTGGAGTCAGCCTTGGGTGTGTCATGCAGGAAGTGTCATCCAAGTGGAGATGTCTAGTTGGCAGGTGGACACAGGAGTTCCAGAAAGTACTGGAGATGGAACTGTGCAAGTTCTTACCACATAGAGATGACACTGAAAGCCCTGAGCCTGAGTGAGCTCACAGGGACGCCGCAAGCCCCGGAACACAATGAGAGGGGCAGAGCGAAGACGTGGCAGTGATAGGGGAGGACGCCTGAGAGTTCCTGGTGGGGTCCTGCAACCTGAGCCAGTGAGGACCCCTCACAGGTCAGGGAGGAGCAGTGGCTGGCTCCATCTGTCCAGTGCTGCTGCTGGTGAAGGACAGTGACCTGCAAATGCTCACTGAGTCTGGCAAGGGTCACGGGGGCCTGGCGAGGGTGGCTTGCATGAGCGGGTGCGTGTGAAAGGCTGGGTGGTGTGCGACTGAGAAAAGGAGTGGCGGCAGCGCAGTGTCATCTGCAGACGAAGGGAGAGACAACAACGTAGTTCACCCAGACAAGGAAATATGAGCCAGCCTGGAAAGGGAAGGCATTCCAACACACGACACAACATGGCTGACCCTGGAGGGCATTTCTGTGAAATGAGCCATCATAAAGGGATACTTGCTATAGGGTTCTGCTCCTGTGAGAGAGACAGGGCCTTACATGAGAGGAGGGAGATCCACAGAGACAGAGGGCAAGGGTGGGTGCCAGGGGCTGGGGACAGGGTGGGGAGTGTTGAGTGGGGACAGAGTGTCAGTTTGAGAAAATAAATTCTAGAGGTGGATGGAAGTGGTGGCTGCGCAACACTGTGACTGCACTTAATGCCACTGAATTGCACATTTAACGATGGTGAAAATGGCTCATTACATATACACTGATGACACTATATATATGTATGATATATATGCGTTTTACCATGAGAAGAGGTGGAGAGGAATTGGAGACACTGAGTACAGACAGGTCCTTCAACGGGCGGGACCCCGTGCACAAGATGAGCATGTGGCACCCCACCCTCAAAGGGCTGGGCACCATGGCAGGGCACAGCAGGCAATGCAGTGGGCGGCTCAGGCAAGCACAGAGAGCATCAGAGATTGGAGCCTGTGAAGGGGGAGCAGGTGACCCCTCAGAGCAAAGTGACAGCTTGGGCTGCTCCCTTTGCGTCCTGCCCAGGACTGCTATCGTGCTATGGGAGAACCCCCAGAGGCCCTGCTCCTCAGCAGGCAGCACCCCCTATGGAGGGGCTTTACCCCTAAACTTCTGGAGCCAGGGGAGGGACCTGGCTTGGAATACGGCCAACCAAGAGCCTGGGTGAGAAATACACGGACCAGACAGGGAGCAGAGAAAGGAGTGGCAGTGCAGTCCCACCCTAGCTCAGCCAGGGGCTCTGGAGCCTGTCCTGCAGTCCCTGGCCCCCATCTCTTCAGCAACCGCTGTTTCCAGTTTTCTTTTTCTCCCTGAGAAGCCTGTCCTCTCACCATGCCTGCGCCTTCAAGAACCCCGCCTGCTGGCAGCTCCCACATCTCCGGCCTGGCCCTCCTTAGCTGCAAAGGTGCTTCCCAACATCAGCAAGACCTCTCCCCAGGGTGCCCCAGGCCCTCACACAGCCCCTGTCCCCAACCGACTCCAACTGTCCTGCAGCCCACAGTCACCCTCAGGACCCCTGAGCTCAGGCCAACTGCTTTATACACTGTCAGCCAAGTCTCTGCCTGGATGACAATCACCCTCTGCTAATTGTTCTCCGCACCTCCAGGCCAAATGCCCTCCAAGCCACCTCATGCACCACGATGACACTAAACACACAGAAAAAAGACATTGAAAAAAGGAAACTTCACAGAGGCCTGTCACTTAAAGAGGGTCCTGAAATAGAGACACCATTTCCTCAGGACTTAGCTCCTGCATCAGGGGTTAGGACACAGAGATCAACAAGCAGCAGGCTTTGCCCTCAAGCAGCTCGCAGTCTAGTGGAAGATGGGTAAGAAAACAGATCAGGACGCCCACGGGTGCAGATGCCCTGGAACAGAAGCTGATCCAGGAAGGCGCGAGCCTGCAGGCCGCCCTCCAGTCTAGGCTGGGCAAGCACCTCAATTTTCATCTCTAAGAGCCTGTGCCCACACCCCCTGCCCCGTTGTTGTTCCATCACTCCACTAGAAAGGGCGCTCCAGAAGCTGGCCTCGTGCAGCTTTCTGTCTGCTGCTGGCCTAGGCAGAACAGCGGAAGAAGCCATCAGGGCTGGTGAGGGAAGCACCCGTTTGGACTTTAGCCTTTCAAAGCTCAGAGAAGGGTGAGCTCAGGGAGGTCCAAGGTAGCTGAGAGCACTTCCTGGAAAAGTGGGATCAGCCTTCGGCCTTGGCACAGCAACCAGAGGGTATCGCCCACGTGTCCCCTACTCCCTCAGACACCACCTCTCAGACCGCCTGGAAAGGGACAGAACTCGTCATGAGGCGGCTGTGCTCTGAGCACAAGGGAAGGGCGACAGGATGCTAGAGAAGGGAACCACTGGCCTGGGCCCGGACAGGGCAGGCAGAAGCGAGCATGCACAGCAGGCCGTCAGCTACCCTGCCAGCATCAACATCCTTCAGGGGTCCCCCCAGTTCCAGGAGACACACCTCTAACCTGCTCCCCTGACCCTTCCGCCCAGTCCTCATGCAGACACCAGGCATGGCAGAGGCCCTGCAGGGTGGAAGCACTGTGCTGCGGGCGGGGGCTGCCTTCCTCATGTGCTACTGGAGAGTAGCACAGTGCAGGGGCCTGGGCACTGGTGCCAGGCAGGAAGCCCCGGTACTGGCCTGGCTTGCTGTGGGCCTGGAAGACACAGCTCTGAGGGAGCCACGGGAGGGACACCCTGGAGCCAGCACAGCGCTCTGGTGGCAGGCACACACCCAGCACGTTCTCAGGGCCAAGGGCCCCAGCCCATTCCCAGCCCCTTTCTGCCTAGCTCTGCCCTGGGCCAGCTCCAGGTCACTGCCAAGGACAAGTCTCCTCTCCCAGCTGGCATTAGTCAGAGGTCATCCTGCAAACCTTCGGGGGGGGGGGCAGGGAGTGACTAGTGGCGTTCTGCCACGTTCTGTCTGTCCCAAATGTGACGAACAGGAACCCAGAGAAGGCAAGCGAGTCCTCTACCCGGAAGCCCCGCCGGTTTACTGAGCCTCCCAAGCTGCCCACACCCAGGGAGGCAGACAGGACACACACTCGGCGGGTGGCCCTGAAGCGAGGCCTGGCCCAGCCCGGGGAGCAGGAGGACAGAGAGGGCAAGGCCTTCGAGAACAGGTGTGAGCCTGGCCTTCAGTGGGGGAAACAGGTTGAAGGGCTGTGGCCGCTTGGGGGCTCCAGGCAGGAGAGAAAGCAGAGCCCTCCCCACAGCTGCAGTCACACACCGCACCACGTACACACCATGACAACTTTTATTGCCCTCAAGAGAAACTCCAGTCCACCTGCTCCACCCACCCTCCTGCGGGACCAAAGAAAACACCCAGAGGGCAAAACAAAAAGGGGCTCAAACCAACAGGAAGTCAGCCCCACCGCAAGCCGGACTACAACTAACTCGTGCTCTCCACGCTCAGGCGTGGAAGCCAAGGCTGTGCCAGGCCTGGCCAGGCCAAGCAGGATGACAGCAAACGCATTCTGAACGTGTAGCAATCAGGTCCCCTGTAATGTGCTTGGAGAGTGTGGACAAGGGCCGAGATGACGAGCTATGAGCTGTGGAAGGGAATGGGGGAAGCAGAAGGGCACAAACAGAAGTACTGGAGGGAGAGGCCGGGCTCTCAGGAAGCAGCAGGCACGTGCCAGGTGGAAGCCAGCTGCAGGCAGGGGAGGAAGGAGGCCCTTACTCTTCCTTCTTGTCCATGGGACCATCTACTGCAGCCTGGAAAGGGACAGAAATCCCACAGCAGTAGGTTGGCCGGGTCCACTCCTCCCCTGCCACCTCCAGCCCCATGCCCCAGAGGTCCACCTCGGTTCCCCTCTCTCCTAACAACAGCTATTCAAGTGAACAAGGGGCCCCCTCCCCAGCTGCACCCAAAGGCCTGCCAGGGTGGGAGCGTCAGCCCTGGCCCACGCTCTAGGGAAAGCCCTGGACCTAACGCCAGCCAGGGAGGACTGCCAGGACCTCACTGGGGGCTGAGTCCTGGCTGCAGGGAACAGCAAGGCATCCAGTCCCCTTCAAGACCTGATCAGACCCTTCCCAACTCTGCACACCTTTGACAGGTGCCCTCGAAGCCCATCTGCCAAGCCTGCCCCATACAGAGGGCATGGGTGCCCCCTTTGAGGCTGGACCCTTCCTCCCCACCTGCTGTGGTGCCCAAACTTGGGCCACCAAGCACTGAGGCCAGCTGTCCAAAGTTAGGAGTATTTATGTGGCCCTCACTCCCAACGTCAAGACCGCCTGGGCTTCCAGATGCGGCCTGGTGCACCCAAGCTAGTCTGAGGACTCAGATCAGGCCTAGGGCAGCAGGTGATGGCCACAACTAGCGCCTGCTAGGGAAGGTGCCTTTTTGACACCTTGTGCCCTCACTTGCCCAGGGATCTTTGCCCTACGTCACTCCCCAGCACCCTAGGAAAGAAGGCCAGCAGTGGGTCC", "alternateAlleleVcf": "T"}, "hgncIds": ["HGNC:16695", "HGNC:11055"]} +{"accession": {"accession": "VCV000088979", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000074477", "version": 4}, "title": "NC_000012.10:g.54711095_54731551del AND Diamond-Blackfan anemia 10", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-11-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000012.10:g.54711095_54731551del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2013-11-01T00:00:00Z", "dateCreated": "2015-04-11T00:00:00Z", "mostRecentSubmission": "2015-04-11T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "start": 56424828, "stop": 56445284, "displayStart": 56424828, "displayStop": 56445284, "variantLength": 20457}, "hgncIds": ["HGNC:13179", "HGNC:10414"]} +{"accession": {"accession": "VCV000100637", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000087037", "version": 5}, "title": "NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del AND Congenital disorder of glycosylation type 1E", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-11-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2013-11-01T00:00:00Z", "dateCreated": "2017-02-19T00:00:00Z", "mostRecentSubmission": "2017-02-19T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_20", "accession": "NC_000020.10", "outerStart": 49552800, "innerStart": 49557402, "innerStop": 49565201, "outerStop": 49571722, "displayStart": 49552800, "displayStop": 49571722, "variantLength": 7800}, "hgncIds": ["HGNC:51227", "HGNC:3005"]} +{"accession": {"accession": "VCV000100659", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000087059", "version": 3}, "title": "NM_138395.4(MARS2):c.682_949del (p.Gly228fs) AND Spastic ataxia 3", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2012-01-01T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_138395.4(MARS2):c.682_949del (p.Gly228fs)", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2012-01-01T00:00:00Z", "dateCreated": "2014-02-26T00:00:00Z", "mostRecentSubmission": "2014-02-26T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "start": 198570810, "stop": 198571077, "displayStart": 198570810, "displayStop": 198571077, "strand": "+", "variantLength": 268, "positionVcf": 198570809, "referenceAlleleVcf": "GGGGCAACCCTCAGGCGATCACCCCCGAACCATTTCATCACGTAGTTCTTCAGTGGCTGGACGAGGAGCTGCCCGACCTGTCCGTGTCTCGCAGAAGTAGCCACTTGCACTGGGGCATTCCGGTGCCCGGGGATGATTCGCAGACCATCTATGTATGGCTGGATGCCCTGGTCAACTACCTCACTGTAATTGGCTACCCAAATGCTGAGTTCAAATCTTGGTGGCCGGCCACCTCTCATATCATAGGTAAGGACATTCTCAAATTCCAT", "alternateAlleleVcf": "G"}, "hgncIds": ["HGNC:25133"]} +{"accession": {"accession": "VCV000101069", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000087326", "version": 3}, "title": "NC_000017.10:g.(4907452_4914761)_(4918508_4926045)del AND Spastic ataxia 2", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2014-01-31T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000017.10:g.(4907452_4914761)_(4918508_4926045)del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2014-01-31T00:00:00Z", "dateCreated": "2014-03-13T00:00:00Z", "mostRecentSubmission": "2014-03-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"forDisplay": true, "assembly": "GRCh37", "chr": "CHROMOSOME_17", "accession": "NC_000017.10", "outerStart": 4907452, "innerStart": 4914761, "innerStop": 4918508, "outerStop": 4926045, "displayStart": 4907452, "displayStop": 4926045, "variantLength": 18594}, "hgncIds": ["HGNC:6317"]} +{"accession": {"accession": "VCV000100628", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000087028", "version": 3}, "title": "NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del AND Craniofrontonasal syndrome", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2013-04-15T00:00:00Z", "submissionCount": 1}}}}], "name": "NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del", "variationType": "VARIATION_TYPE_DELETION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2013-04-15T00:00:00Z", "dateCreated": "2014-02-26T00:00:00Z", "mostRecentSubmission": "2014-02-26T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "outerStart": 68059108, "innerStart": 68059111, "innerStop": 68067499, "outerStop": 68067502, "displayStart": 68059108, "displayStop": 68067502, "strand": "+", "variantLength": 8389}, "hgncIds": ["HGNC:3226"]} +{"accession": {"accession": "VCV000101502", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000087739", "version": 3}, "title": "NM_014740.4(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[10] AND Richieri Costa-Pereira syndrome", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2014-01-02T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_014740.4(EIF4A3):c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[10]", "variationType": "VARIATION_TYPE_INDEL", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2014-01-02T00:00:00Z", "dateCreated": "2014-03-13T00:00:00Z", "mostRecentSubmission": "2014-03-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_17", "accession": "NC_000017.10", "start": 78120841, "stop": 78120858, "displayStart": 78120841, "displayStop": 78120858}, "hgncIds": ["HGNC:18683"]} +{"accession": {"accession": "VCV000102513", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000088744", "version": 1}, "title": "NM_000277.2(PAH):c.1066_1067ins6 AND not provided", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_CLASSIFICATION_PROVIDED", "description": {"value": "not provided", "submissionCount": 1}}}}], "name": "NM_000277.2(PAH):c.1066_1067ins6", "variationType": "VARIATION_TYPE_INSERTION", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_CLASSIFICATION_PROVIDED", "description": "not provided", "dateCreated": "2014-03-19T00:00:00Z", "mostRecentSubmission": "2014-03-19T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "start": 103237556, "stop": 103237557, "displayStart": 103237556, "displayStop": 103237557}, "hgncIds": ["HGNC:8582"]} +{"accession": {"accession": "VCV000143794", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000133341", "version": 2}, "title": "NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?) AND Atypical Rett syndrome", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2014-03-13T00:00:00Z", "submissionCount": 1}}}}], "name": "NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?)", "variationType": "VARIATION_TYPE_INDEL", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2014-03-13T00:00:00Z", "dateCreated": "2015-04-22T00:00:00Z", "mostRecentSubmission": "2015-04-22T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "start": 18627031, "stop": 18627032, "displayStart": 18627031, "displayStop": 18627032}, "hgncIds": ["HGNC:11411"]} +{"accession": {"accession": "VCV000144097", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000133599", "version": 3}, "title": "GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.1(chrX:77829855-77858051)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 77085352, "innerStop": 77113548, "displayStart": 77085352, "displayStop": 77113548, "variantLength": 28197}, "hgncIds": ["HGNC:28880"]} +{"accession": {"accession": "VCV000144128", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000052335", "version": 4}, "title": "GRCh38/hg38 Xp22.31(chrX:8627004-8736337)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.31(chrX:8627004-8736337)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER", "description": "Uncertain significance", "dateLastEvaluated": "2011-08-12T00:00:00Z", "dateCreated": "2015-06-29T00:00:00Z", "mostRecentSubmission": "2015-06-29T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 8595045, "innerStop": 8704378, "displayStart": 8595045, "displayStop": 8704378, "variantLength": 109334}, "hgncIds": ["HGNC:6211"]} +{"accession": {"accession": "VCV000144786", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134190", "version": 3}, "title": "GRCh37/hg19 1q21.1(chr1:143646652-143908838)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 1q21.1(chr1:143646652-143908838)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"forDisplay": true, "assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 143646652, "innerStop": 143908838, "displayStart": 143646652, "displayStop": 143908838, "variantLength": 262187}, "hgncIds": ["HGNC:33593", "HGNC:33996"]} +{"accession": {"accession": "VCV000144783", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134187", "version": 3}, "title": "GRCh38/hg38 1q21.2(chr1:148437320-148490103)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1q21.2(chr1:148437320-148490103)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 147909430, "innerStop": 147962225, "displayStart": 147909430, "displayStop": 147962225, "variantLength": 52796}, "hgncIds": ["HGNC:49454", "HGNC:33996"]} +{"accession": {"accession": "VCV000144790", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134194", "version": 3}, "title": "GRCh37/hg19 1q21.1(chr1:142604414-142642753)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 1q21.1(chr1:142604414-142642753)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 142604414, "innerStop": 142642753, "displayStart": 142604414, "displayStop": 142642753, "variantLength": 38340}} +{"accession": {"accession": "VCV000144802", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134206", "version": 3}, "title": "GRCh38/hg38 1p36.32(chr1:2651321-2701929)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1p36.32(chr1:2651321-2701929)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 2582760, "innerStop": 2633368, "displayStart": 2582760, "displayStop": 2633368, "variantLength": 50609}, "hgncIds": ["HGNC:34297"]} +{"accession": {"accession": "VCV000144784", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134188", "version": 3}, "title": "GRCh38/hg38 1q21.1(chr1:146073716-146244094)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1q21.1(chr1:146073716-146244094)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 145194054, "innerStop": 145361282, "displayStart": 145194054, "displayStop": 145361282, "variantLength": 167229}, "hgncIds": ["HGNC:31992", "HGNC:31862"]} +{"accession": {"accession": "VCV000144803", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134207", "version": 3}, "title": "GRCh38/hg38 1q21.3(chr1:151360648-151427484)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1q21.3(chr1:151360648-151427484)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 151333124, "innerStop": 151399960, "displayStart": 151333124, "displayStop": 151399960, "variantLength": 66837}, "hgncIds": ["HGNC:18801", "HGNC:9541", "HGNC:10719"]} +{"accession": {"accession": "VCV000144792", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134196", "version": 3}, "title": "GRCh37/hg19 1q21.1(chr1:142604414-142642753)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 1q21.1(chr1:142604414-142642753)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"forDisplay": true, "assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 142604414, "innerStop": 142642753, "displayStart": 142604414, "displayStop": 142642753, "variantLength": 38340}} +{"accession": {"accession": "VCV000144814", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134218", "version": 3}, "title": "GRCh38/hg38 1q43(chr1:238512952-238590128)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1q43(chr1:238512952-238590128)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 238676252, "innerStop": 238753428, "displayStart": 238676252, "displayStop": 238753428, "variantLength": 77177}} +{"accession": {"accession": "VCV000144811", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134215", "version": 3}, "title": "GRCh38/hg38 1p33(chr1:49493753-49583808)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1p33(chr1:49493753-49583808)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 49959425, "innerStop": 50049480, "displayStart": 49959425, "displayStop": 50049480, "variantLength": 90056}, "hgncIds": ["HGNC:25892"]} +{"accession": {"accession": "VCV000144818", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134222", "version": 3}, "title": "GRCh38/hg38 1p36.32(chr1:2659405-2673815)x4 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1p36.32(chr1:2659405-2673815)x4", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 2590844, "innerStop": 2605254, "displayStart": 2590844, "displayStop": 2605254, "variantLength": 14411}, "hgncIds": ["HGNC:34297"]} +{"accession": {"accession": "VCV000144800", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134204", "version": 3}, "title": "GRCh38/hg38 1p36.32(chr1:2651321-2701929)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1p36.32(chr1:2651321-2701929)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 2582760, "innerStop": 2633368, "displayStart": 2582760, "displayStop": 2633368, "variantLength": 50609}, "hgncIds": ["HGNC:34297"]} +{"accession": {"accession": "VCV000144819", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134223", "version": 3}, "title": "GRCh38/hg38 2p22.3(chr2:35596740-35731555)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p22.3(chr2:35596740-35731555)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 35821806, "innerStop": 35956621, "displayStart": 35821806, "displayStop": 35956621, "variantLength": 134816}} +{"accession": {"accession": "VCV000144812", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134216", "version": 3}, "title": "GRCh37/hg19 1q21.1(chr1:143504612-143540851)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 1q21.1(chr1:143504612-143540851)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 143504612, "innerStop": 143540851, "displayStart": 143504612, "displayStop": 143540851, "variantLength": 36240}} +{"accession": {"accession": "VCV000144816", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134220", "version": 3}, "title": "GRCh38/hg38 1q21.2(chr1:148425519-148437320)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1q21.2(chr1:148425519-148437320)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 147897667, "innerStop": 147909430, "displayStart": 147897667, "displayStop": 147909430, "variantLength": 11764}, "hgncIds": ["HGNC:49454"]} +{"accession": {"accession": "VCV000144838", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134242", "version": 3}, "title": "GRCh38/hg38 2p16.3(chr2:50822507-50894953)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p16.3(chr2:50822507-50894953)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 51049645, "innerStop": 51122091, "displayStart": 51049645, "displayStop": 51122091, "variantLength": 72447}, "hgncIds": ["HGNC:8008"]} +{"accession": {"accession": "VCV000144843", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134247", "version": 4}, "title": "GRCh38/hg38 3q29(chr3:195631406-195699004)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2014-03-18T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3q29(chr3:195631406-195699004)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2014-03-18T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 195358277, "innerStop": 195425875, "displayStart": 195358277, "displayStop": 195425875, "variantLength": 67599}, "hgncIds": ["HGNC:53743"]} +{"accession": {"accession": "VCV000144850", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134254", "version": 3}, "title": "GRCh38/hg38 3p26.3(chr3:1798595-1880775)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p26.3(chr3:1798595-1880775)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 1840279, "innerStop": 1922459, "displayStart": 1840279, "displayStop": 1922459, "variantLength": 82181}} +{"accession": {"accession": "VCV000144854", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134258", "version": 3}, "title": "GRCh38/hg38 3q12.3(chr3:102481295-102566368)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "conflicting data from submitters", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3q12.3(chr3:102481295-102566368)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "conflicting data from submitters", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 102200139, "innerStop": 102285212, "displayStart": 102200139, "displayStop": 102285212, "variantLength": 85074}} +{"accession": {"accession": "VCV000144855", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134259", "version": 3}, "title": "GRCh38/hg38 3p12.1(chr3:85408307-85566418)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p12.1(chr3:85408307-85566418)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 85457457, "innerStop": 85615568, "displayStart": 85457457, "displayStop": 85615568, "variantLength": 158112}, "hgncIds": ["HGNC:29849"]} +{"accession": {"accession": "VCV000144862", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134266", "version": 3}, "title": "GRCh38/hg38 3p14.2(chr3:60102627-60254729)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p14.2(chr3:60102627-60254729)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 60088353, "innerStop": 60240457, "displayStart": 60088353, "displayStop": 60240457, "variantLength": 152105}, "hgncIds": ["HGNC:3701"]} +{"accession": {"accession": "VCV000144785", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134189", "version": 3}, "title": "GRCh38/hg38 1p12(chr1:120014117-120092791)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1p12(chr1:120014117-120092791)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 120556740, "innerStop": 120635392, "displayStart": 120556740, "displayStop": 120635392, "variantLength": 78653}, "hgncIds": ["HGNC:7882"]} +{"accession": {"accession": "VCV000144844", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134248", "version": 3}, "title": "GRCh38/hg38 3q29(chr3:195631406-195699004)x4 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3q29(chr3:195631406-195699004)x4", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 195358277, "innerStop": 195425875, "displayStart": 195358277, "displayStop": 195425875, "variantLength": 67599}, "hgncIds": ["HGNC:53743"]} +{"accession": {"accession": "VCV000144874", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134278", "version": 3}, "title": "GRCh38/hg38 4p15.1(chr4:33519132-33716358)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4p15.1(chr4:33519132-33716358)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 33520754, "innerStop": 33717980, "displayStart": 33520754, "displayStop": 33717980, "variantLength": 197227}} +{"accession": {"accession": "VCV000144797", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134201", "version": 4}, "title": "GRCh38/hg38 1p33(chr1:49463753-49522404)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1p33(chr1:49463753-49522404)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 49929425, "innerStop": 49988076, "displayStart": 49929425, "displayStop": 49988076, "variantLength": 58652}, "hgncIds": ["HGNC:25892", "HGNC:41482"]} +{"accession": {"accession": "VCV000144871", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134275", "version": 3}, "title": "GRCh38/hg38 4p16.3(chr4:4165045-4247526)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4p16.3(chr4:4165045-4247526)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 4166772, "innerStop": 4249253, "displayStart": 4166772, "displayStop": 4249253, "variantLength": 82482}, "hgncIds": ["HGNC:19656", "HGNC:28201"]} +{"accession": {"accession": "VCV000144878", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134282", "version": 3}, "title": "GRCh38/hg38 5q35.3(chr5:181338808-181463112)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5q35.3(chr5:181338808-181463112)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 180765809, "innerStop": 180890113, "displayStart": 180765809, "displayStop": 180890113, "variantLength": 124305}, "hgncIds": ["HGNC:8300"]} +{"accession": {"accession": "VCV000144875", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134279", "version": 3}, "title": "GRCh38/hg38 4q35.1(chr4:185717485-185738139)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4q35.1(chr4:185717485-185738139)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 186638639, "innerStop": 186659293, "displayStart": 186638639, "displayStop": 186659293, "variantLength": 20655}, "hgncIds": ["HGNC:24098"]} +{"accession": {"accession": "VCV000144882", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134286", "version": 3}, "title": "GRCh38/hg38 5q35.3(chr5:181356054-181398789)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5q35.3(chr5:181356054-181398789)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 180783055, "innerStop": 180825790, "displayStart": 180783055, "displayStop": 180825790, "variantLength": 42736}, "hgncIds": ["HGNC:8300"]} +{"accession": {"accession": "VCV000144860", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134264", "version": 3}, "title": "GRCh38/hg38 3p24.3(chr3:22079119-22213537)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p24.3(chr3:22079119-22213537)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 22120611, "innerStop": 22255029, "displayStart": 22120611, "displayStop": 22255029, "variantLength": 134419}, "hgncIds": ["HGNC:26191"]} +{"accession": {"accession": "VCV000144805", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134209", "version": 3}, "title": "GRCh38/hg38 1q44(chr1:243786629-243870496)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1q44(chr1:243786629-243870496)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 243949931, "innerStop": 244033798, "displayStart": 243949931, "displayStop": 244033798, "variantLength": 83868}, "hgncIds": ["HGNC:393", "HGNC:41304"]} +{"accession": {"accession": "VCV000144879", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134283", "version": 3}, "title": "GRCh38/hg38 5q35.3(chr5:181338808-181448620)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5q35.3(chr5:181338808-181448620)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 180765809, "innerStop": 180875621, "displayStart": 180765809, "displayStop": 180875621, "variantLength": 109813}, "hgncIds": ["HGNC:8300"]} +{"accession": {"accession": "VCV000144813", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134217", "version": 3}, "title": "GRCh38/hg38 1q31.1(chr1:187674895-187776567)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1q31.1(chr1:187674895-187776567)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 187644027, "innerStop": 187745698, "displayStart": 187644027, "displayStop": 187745698, "variantLength": 101672}} +{"accession": {"accession": "VCV000144887", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134291", "version": 3}, "title": "GRCh38/hg38 5p15.31(chr5:7422048-7449225)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5p15.31(chr5:7422048-7449225)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 7422161, "innerStop": 7449338, "displayStart": 7422161, "displayStop": 7449338, "variantLength": 27178}, "hgncIds": ["HGNC:233"]} +{"accession": {"accession": "VCV000144894", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134298", "version": 3}, "title": "GRCh38/hg38 6q27(chr6:170628371-170699009)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6q27(chr6:170628371-170699009)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 170937459, "innerStop": 171008097, "displayStart": 170937459, "displayStop": 171008097, "variantLength": 70639}} +{"accession": {"accession": "VCV000144817", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134221", "version": 3}, "title": "GRCh38/hg38 1p36.32(chr1:2659405-2673815)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1p36.32(chr1:2659405-2673815)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 2590844, "innerStop": 2605254, "displayStart": 2590844, "displayStop": 2605254, "variantLength": 14411}, "hgncIds": ["HGNC:34297"]} +{"accession": {"accession": "VCV000144821", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134225", "version": 3}, "title": "GRCh38/hg38 2p22.1(chr2:39097156-39101653)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p22.1(chr2:39097156-39101653)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 39324297, "innerStop": 39328794, "displayStart": 39324297, "displayStop": 39328794, "variantLength": 4498}, "hgncIds": ["HGNC:11187"]} +{"accession": {"accession": "VCV000144880", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134284", "version": 3}, "title": "GRCh38/hg38 5p15.33(chr5:22149-163286)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5p15.33(chr5:22149-163286)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 22149, "innerStop": 163401, "displayStart": 22149, "displayStop": 163401, "variantLength": 141253}, "hgncIds": ["HGNC:29399"]} +{"accession": {"accession": "VCV000144899", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134303", "version": 3}, "title": "GRCh38/hg38 6q16.3(chr6:104177975-104341827)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6q16.3(chr6:104177975-104341827)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 104625850, "innerStop": 104789702, "displayStart": 104625850, "displayStop": 104789702, "variantLength": 163853}} +{"accession": {"accession": "VCV000144903", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134307", "version": 4}, "title": "GRCh38/hg38 6p12.1(chr6:57052810-57085760)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6p12.1(chr6:57052810-57085760)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 56917608, "innerStop": 56950558, "displayStart": 56917608, "displayStop": 56950558, "variantLength": 32951}, "hgncIds": ["HGNC:21360"]} +{"accession": {"accession": "VCV000144910", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134314", "version": 3}, "title": "GRCh38/hg38 6q11.1-11.2(chr6:62566683-62638936)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6q11.1-11.2(chr6:62566683-62638936)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 63276588, "innerStop": 63348841, "displayStart": 63276588, "displayStop": 63348841, "variantLength": 72254}} +{"accession": {"accession": "VCV000144833", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134237", "version": 3}, "title": "GRCh38/hg38 2p24.3(chr2:13138650-13277869)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p24.3(chr2:13138650-13277869)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 13278775, "innerStop": 13417994, "displayStart": 13278775, "displayStop": 13417994, "variantLength": 139220}} +{"accession": {"accession": "VCV000144837", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134241", "version": 3}, "title": "GRCh38/hg38 2p16.3(chr2:50822507-50839440)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p16.3(chr2:50822507-50839440)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 51049645, "innerStop": 51066578, "displayStart": 51049645, "displayStop": 51066578, "variantLength": 16934}, "hgncIds": ["HGNC:8008"]} +{"accession": {"accession": "VCV000144841", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134245", "version": 3}, "title": "GRCh38/hg38 2p22.3(chr2:35350936-35596740)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p22.3(chr2:35350936-35596740)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 35576002, "innerStop": 35821806, "displayStart": 35576002, "displayStop": 35821806, "variantLength": 245805}, "hgncIds": ["HGNC:41683"]} +{"accession": {"accession": "VCV000144900", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134304", "version": 3}, "title": "GRCh38/hg38 6q26(chr6:162449337-162512065)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6q26(chr6:162449337-162512065)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 162870369, "innerStop": 162933097, "displayStart": 162870369, "displayStop": 162933097, "variantLength": 62729}, "hgncIds": ["HGNC:8607"]} +{"accession": {"accession": "VCV000144904", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134308", "version": 3}, "title": "GRCh38/hg38 6p12.1(chr6:57052810-57085760)x4 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6p12.1(chr6:57052810-57085760)x4", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 56917608, "innerStop": 56950558, "displayStart": 56917608, "displayStop": 56950558, "variantLength": 32951}, "hgncIds": ["HGNC:21360"]} +{"accession": {"accession": "VCV000144908", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134312", "version": 3}, "title": "GRCh38/hg38 6q14.1(chr6:80863139-80990147)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6q14.1(chr6:80863139-80990147)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 81572856, "innerStop": 81699864, "displayStart": 81572856, "displayStop": 81699864, "variantLength": 127009}} +{"accession": {"accession": "VCV000144857", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134261", "version": 3}, "title": "GRCh38/hg38 3p26.3(chr3:427445-462035)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p26.3(chr3:427445-462035)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 469128, "innerStop": 503718, "displayStart": 469128, "displayStop": 503718, "variantLength": 34591}} +{"accession": {"accession": "VCV000144861", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134265", "version": 3}, "title": "GRCh38/hg38 3p26.3(chr3:1780588-1939069)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p26.3(chr3:1780588-1939069)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 1822272, "innerStop": 1980753, "displayStart": 1822272, "displayStop": 1980753, "variantLength": 158482}} +{"accession": {"accession": "VCV000144869", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134273", "version": 3}, "title": "GRCh38/hg38 4p16.3(chr4:78578-117990)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "conflicting data from submitters", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4p16.3(chr4:78578-117990)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "conflicting data from submitters", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 78470, "innerStop": 117871, "displayStart": 78470, "displayStop": 117871, "variantLength": 39402}, "hgncIds": ["HGNC:27196"]} +{"accession": {"accession": "VCV000144873", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134277", "version": 3}, "title": "GRCh38/hg38 4q32.3(chr4:167400142-167555986)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4q32.3(chr4:167400142-167555986)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 168321293, "innerStop": 168477137, "displayStart": 168321293, "displayStop": 168477137, "variantLength": 155845}} +{"accession": {"accession": "VCV000144877", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134281", "version": 3}, "title": "GRCh38/hg38 4q35.2(chr4:189953302-190022219)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4q35.2(chr4:189953302-190022219)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 190874457, "innerStop": 190943374, "displayStart": 190874457, "displayStop": 190943374, "variantLength": 68918}, "hgncIds": ["HGNC:3954"]} +{"accession": {"accession": "VCV000144881", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134285", "version": 3}, "title": "GRCh38/hg38 5q35.3(chr5:181356054-181398789)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5q35.3(chr5:181356054-181398789)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 180783055, "innerStop": 180825790, "displayStart": 180783055, "displayStop": 180825790, "variantLength": 42736}, "hgncIds": ["HGNC:8300"]} +{"accession": {"accession": "VCV000144889", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134293", "version": 3}, "title": "GRCh38/hg38 5q35.3(chr5:181356054-181448620)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5q35.3(chr5:181356054-181448620)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 180783055, "innerStop": 180875621, "displayStart": 180783055, "displayStop": 180875621, "variantLength": 92567}, "hgncIds": ["HGNC:8300"]} +{"accession": {"accession": "VCV000144905", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134309", "version": 3}, "title": "GRCh38/hg38 6p12.1(chr6:57052810-57085760)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6p12.1(chr6:57052810-57085760)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 56917608, "innerStop": 56950558, "displayStart": 56917608, "displayStop": 56950558, "variantLength": 32951}, "hgncIds": ["HGNC:21360"]} +{"accession": {"accession": "VCV000144912", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134316", "version": 3}, "title": "GRCh38/hg38 6q27(chr6:170628371-170716383)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6q27(chr6:170628371-170716383)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 170937459, "innerStop": 171025471, "displayStart": 170937459, "displayStop": 171025471, "variantLength": 88013}} +{"accession": {"accession": "VCV000144924", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134328", "version": 3}, "title": "GRCh38/hg38 7q31.31(chr7:119226617-119385676)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7q31.31(chr7:119226617-119385676)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 118866671, "innerStop": 119025730, "displayStart": 118866671, "displayStop": 119025730, "variantLength": 159060}} +{"accession": {"accession": "VCV000144932", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134336", "version": 3}, "title": "GRCh38/hg38 7q21.13(chr7:89941939-90066509)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7q21.13(chr7:89941939-90066509)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 89571253, "innerStop": 89695823, "displayStart": 89571253, "displayStop": 89695823, "variantLength": 124571}, "hgncIds": ["HGNC:40820"]} +{"accession": {"accession": "VCV000144913", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134317", "version": 3}, "title": "GRCh38/hg38 6q16.1(chr6:93778112-93876782)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6q16.1(chr6:93778112-93876782)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 94487830, "innerStop": 94586500, "displayStart": 94487830, "displayStop": 94586500, "variantLength": 98671}} +{"accession": {"accession": "VCV000144914", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134318", "version": 3}, "title": "GRCh38/hg38 6q27(chr6:170628371-170674315)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6q27(chr6:170628371-170674315)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 170937459, "innerStop": 170983403, "displayStart": 170937459, "displayStop": 170983403, "variantLength": 45945}} +{"accession": {"accession": "VCV000144919", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134323", "version": 3}, "title": "GRCh38/hg38 7p12.1(chr7:53404348-53515432)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7p12.1(chr7:53404348-53515432)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 53472041, "innerStop": 53583125, "displayStart": 53472041, "displayStop": 53583125, "variantLength": 111085}} +{"accession": {"accession": "VCV000144944", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134348", "version": 3}, "title": "GRCh38/hg38 8p23.3(chr8:137572-178199)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8p23.3(chr8:137572-178199)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 87572, "innerStop": 128199, "displayStart": 87572, "displayStop": 128199, "variantLength": 40628}, "hgncIds": ["HGNC:19583"]} +{"accession": {"accession": "VCV000144921", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134325", "version": 3}, "title": "GRCh38/hg38 7q36.2(chr7:153460303-153790178)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7q36.2(chr7:153460303-153790178)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 153157388, "innerStop": 153487263, "displayStart": 153157388, "displayStop": 153487263, "variantLength": 329876}, "hgncIds": ["HGNC:3010"]} +{"accession": {"accession": "VCV000144922", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134326", "version": 3}, "title": "GRCh38/hg38 7q31.31(chr7:119226617-119385676)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7q31.31(chr7:119226617-119385676)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 118866671, "innerStop": 119025730, "displayStart": 118866671, "displayStop": 119025730, "variantLength": 159060}} +{"accession": {"accession": "VCV000144926", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134330", "version": 3}, "title": "GRCh38/hg38 7q31.33(chr7:125538149-126150923)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7q31.33(chr7:125538149-126150923)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 125178203, "innerStop": 125790977, "displayStart": 125178203, "displayStop": 125790977, "variantLength": 612775}} +{"accession": {"accession": "VCV000144935", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134339", "version": 3}, "title": "GRCh38/hg38 7p22.3(chr7:46494-65558)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7p22.3(chr7:46494-65558)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 46494, "innerStop": 65558, "displayStart": 46494, "displayStop": 65558, "variantLength": 19065}} +{"accession": {"accession": "VCV000144960", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134364", "version": 3}, "title": "GRCh38/hg38 9p21.1(chr9:30424071-30520900)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p21.1(chr9:30424071-30520900)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 30424069, "innerStop": 30520898, "displayStart": 30424069, "displayStop": 30520898, "variantLength": 96830}} +{"accession": {"accession": "VCV000144964", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134368", "version": 3}, "title": "GRCh38/hg38 9q34.3(chr9:135265814-135391712)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9q34.3(chr9:135265814-135391712)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 138157660, "innerStop": 138283558, "displayStart": 138157660, "displayStop": 138283558, "variantLength": 125899}, "hgncIds": ["HGNC:28581"]} +{"accession": {"accession": "VCV000144968", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134372", "version": 3}, "title": "GRCh38/hg38 9p24.1(chr9:8065133-8187842)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p24.1(chr9:8065133-8187842)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 8065133, "innerStop": 8187842, "displayStart": 8065133, "displayStop": 8187842, "variantLength": 122710}} +{"accession": {"accession": "VCV000144942", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134346", "version": 3}, "title": "GRCh38/hg38 8q23.3(chr8:113187763-113326162)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8q23.3(chr8:113187763-113326162)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 114199992, "innerStop": 114338391, "displayStart": 114199992, "displayStop": 114338391, "variantLength": 138400}, "hgncIds": ["HGNC:19291"]} +{"accession": {"accession": "VCV000144945", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134349", "version": 3}, "title": "GRCh38/hg38 8p23.3(chr8:137572-178199)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8p23.3(chr8:137572-178199)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 87572, "innerStop": 128199, "displayStart": 87572, "displayStop": 128199, "variantLength": 40628}, "hgncIds": ["HGNC:19583"]} +{"accession": {"accession": "VCV000144947", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134351", "version": 3}, "title": "GRCh37/hg19 8p23.3-23.2(chr8:2133991-2349876)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 8p23.3-23.2(chr8:2133991-2349876)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 2133991, "innerStop": 2349876, "displayStart": 2133991, "displayStop": 2349876, "variantLength": 215886}} +{"accession": {"accession": "VCV000144976", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134380", "version": 3}, "title": "GRCh38/hg38 10q21.3(chr10:66719462-66839674)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 10q21.3(chr10:66719462-66839674)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 68479220, "innerStop": 68599432, "displayStart": 68479220, "displayStop": 68599432, "variantLength": 120213}, "hgncIds": ["HGNC:2511"]} +{"accession": {"accession": "VCV000144951", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134355", "version": 3}, "title": "GRCh38/hg38 8p23.3(chr8:90247-195465)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8p23.3(chr8:90247-195465)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 40247, "innerStop": 145465, "displayStart": 40247, "displayStop": 145465, "variantLength": 105219}, "hgncIds": ["HGNC:19583"]} +{"accession": {"accession": "VCV000144950", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134354", "version": 4}, "title": "GRCh38/hg38 8p22(chr8:16094502-16164176)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8p22(chr8:16094502-16164176)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 15952011, "innerStop": 16021685, "displayStart": 15952011, "displayStop": 16021685, "variantLength": 69675}, "hgncIds": ["HGNC:7376"]} +{"accession": {"accession": "VCV000144980", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134384", "version": 3}, "title": "GRCh38/hg38 10q25.1(chr10:105349304-105520966)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 10q25.1(chr10:105349304-105520966)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 107109062, "innerStop": 107280724, "displayStart": 107109062, "displayStop": 107280724, "variantLength": 171663}} +{"accession": {"accession": "VCV000144954", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134358", "version": 3}, "title": "GRCh38/hg38 8p23.3(chr8:90247-178199)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8p23.3(chr8:90247-178199)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 40247, "innerStop": 128199, "displayStart": 40247, "displayStop": 128199, "variantLength": 87953}, "hgncIds": ["HGNC:19583"]} +{"accession": {"accession": "VCV000144958", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134362", "version": 3}, "title": "GRCh38/hg38 9p21.3-21.2(chr9:25527397-25616021)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p21.3-21.2(chr9:25527397-25616021)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 25527395, "innerStop": 25616019, "displayStart": 25527395, "displayStop": 25616019, "variantLength": 88625}} +{"accession": {"accession": "VCV000144961", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134365", "version": 3}, "title": "GRCh38/hg38 9p24.1-23(chr9:8903382-9014802)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p24.1-23(chr9:8903382-9014802)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 8903382, "innerStop": 9014802, "displayStart": 8903382, "displayStop": 9014802, "variantLength": 111421}, "hgncIds": ["HGNC:9668"]} +{"accession": {"accession": "VCV000144989", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134392", "version": 3}, "title": "GRCh38/hg38 10q23.1(chr10:82377919-82510252)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 10q23.1(chr10:82377919-82510252)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 84137675, "innerStop": 84270008, "displayStart": 84137675, "displayStop": 84270008, "variantLength": 132334}, "hgncIds": ["HGNC:7999"]} +{"accession": {"accession": "VCV000144962", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134366", "version": 3}, "title": "GRCh38/hg38 9q34.3(chr9:138167115-138216026)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9q34.3(chr9:138167115-138216026)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 141061567, "innerStop": 141106476, "displayStart": 141061567, "displayStop": 141106476, "variantLength": 44910}} +{"accession": {"accession": "VCV000144965", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134369", "version": 3}, "title": "GRCh38/hg38 9p23(chr9:11927681-12007047)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p23(chr9:11927681-12007047)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 11927681, "innerStop": 12007047, "displayStart": 11927681, "displayStop": 12007047, "variantLength": 79367}} +{"accession": {"accession": "VCV000144963", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134367", "version": 3}, "title": "GRCh38/hg38 9p21.3(chr9:25259015-25346914)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p21.3(chr9:25259015-25346914)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 25259013, "innerStop": 25346912, "displayStart": 25259013, "displayStop": 25346912, "variantLength": 87900}} +{"accession": {"accession": "VCV000144969", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134373", "version": 3}, "title": "GRCh38/hg38 9p21.3(chr9:22212554-22326166)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p21.3(chr9:22212554-22326166)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 22212553, "innerStop": 22326165, "displayStart": 22212553, "displayStop": 22326165, "variantLength": 113613}} +{"accession": {"accession": "VCV000144970", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134374", "version": 3}, "title": "GRCh38/hg38 9p21.1(chr9:28191463-28320733)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2013-06-25T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p21.1(chr9:28191463-28320733)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2013-06-25T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 28191461, "innerStop": 28320731, "displayStart": 28191461, "displayStop": 28320731, "variantLength": 129271}, "hgncIds": ["HGNC:21207"]} +{"accession": {"accession": "VCV000144997", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134400", "version": 3}, "title": "GRCh38/hg38 11q25(chr11:133676308-133756534)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 11q25(chr11:133676308-133756534)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "innerStart": 133546203, "innerStop": 133626429, "displayStart": 133546203, "displayStop": 133626429, "variantLength": 80227}} +{"accession": {"accession": "VCV000144973", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134377", "version": 3}, "title": "GRCh38/hg38 9p23(chr9:10249116-10340720)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p23(chr9:10249116-10340720)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 10249116, "innerStop": 10340720, "displayStart": 10249116, "displayStop": 10340720, "variantLength": 91605}, "hgncIds": ["HGNC:9668"]} +{"accession": {"accession": "VCV000144974", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134378", "version": 3}, "title": "GRCh38/hg38 9q21.2(chr9:77828133-77845836)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9q21.2(chr9:77828133-77845836)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 80443049, "innerStop": 80460752, "displayStart": 80443049, "displayStop": 80460752, "variantLength": 17704}, "hgncIds": ["HGNC:4390"]} +{"accession": {"accession": "VCV000144975", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134379", "version": 3}, "title": "GRCh38/hg38 9p23(chr9:11713632-11868524)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p23(chr9:11713632-11868524)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 11713632, "innerStop": 11868524, "displayStart": 11713632, "displayStop": 11868524, "variantLength": 154893}} +{"accession": {"accession": "VCV000144984", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134387", "version": 3}, "title": "GRCh38/hg38 10p12.33(chr10:17839748-17920896)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 10p12.33(chr10:17839748-17920896)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 17809523, "innerStop": 17962915, "displayStart": 17809523, "displayStop": 17962915, "variantLength": 153393}, "hgncIds": ["HGNC:32077", "HGNC:7228"]} +{"accession": {"accession": "VCV000144987", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134390", "version": 3}, "title": "GRCh38/hg38 10q11.23(chr10:50729367-50759170)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 10q11.23(chr10:50729367-50759170)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 52489127, "innerStop": 52518930, "displayStart": 52489127, "displayStop": 52518930, "variantLength": 29804}, "hgncIds": ["HGNC:23456"]} +{"accession": {"accession": "VCV000144990", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134393", "version": 3}, "title": "GRCh38/hg38 10q24.2(chr10:98907968-98937040)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 10q24.2(chr10:98907968-98937040)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 100667725, "innerStop": 100696797, "displayStart": 100667725, "displayStop": 100696797, "variantLength": 29073}, "hgncIds": ["HGNC:18374", "HGNC:50199"]} +{"accession": {"accession": "VCV000144991", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134394", "version": 3}, "title": "GRCh38/hg38 10p12.33(chr10:17767524-17839747)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 10p12.33(chr10:17767524-17839747)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 17809523, "innerStop": 17892239, "displayStart": 17809523, "displayStop": 17892239, "variantLength": 82717}, "hgncIds": ["HGNC:7228", "HGNC:23473"]} +{"accession": {"accession": "VCV000144992", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134395", "version": 3}, "title": "GRCh38/hg38 10p12.33(chr10:17767524-17839747)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "conflicting data from submitters", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 10p12.33(chr10:17767524-17839747)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "conflicting data from submitters", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 17809523, "innerStop": 17892239, "displayStart": 17809523, "displayStop": 17892239, "variantLength": 82717}, "hgncIds": ["HGNC:7228", "HGNC:23473"]} +{"accession": {"accession": "VCV000144994", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134397", "version": 3}, "title": "GRCh38/hg38 10p12.31(chr10:19157661-19521781)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 10p12.31(chr10:19157661-19521781)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 19446590, "innerStop": 19810710, "displayStart": 19446590, "displayStop": 19810710, "variantLength": 364121}, "hgncIds": ["HGNC:24331"]} +{"accession": {"accession": "VCV000144999", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134402", "version": 3}, "title": "GRCh38/hg38 11q14.1(chr11:80945608-81191865)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 11q14.1(chr11:80945608-81191865)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "innerStart": 80656651, "innerStop": 80902908, "displayStart": 80656651, "displayStop": 80902908, "variantLength": 246258}} +{"accession": {"accession": "VCV000145025", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134428", "version": 3}, "title": "GRCh38/hg38 14q21.2(chr14:43387283-43754611)x4 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 14q21.2(chr14:43387283-43754611)x4", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_14", "accession": "NC_000014.8", "innerStart": 43856486, "innerStop": 44223814, "displayStart": 43856486, "displayStop": 44223814, "variantLength": 367329}} +{"accession": {"accession": "VCV000145029", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134432", "version": 3}, "title": "GRCh38/hg38 14q24.2(chr14:72172189-72198910)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 14q24.2(chr14:72172189-72198910)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_14", "accession": "NC_000014.8", "innerStart": 72638897, "innerStop": 72665618, "displayStart": 72638897, "displayStop": 72665618, "variantLength": 26722}, "hgncIds": ["HGNC:10002"]} +{"accession": {"accession": "VCV000145006", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134409", "version": 3}, "title": "GRCh38/hg38 11q12.1(chr11:56555514-56584888)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 11q12.1(chr11:56555514-56584888)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "innerStart": 56322990, "innerStop": 56352364, "displayStart": 56322990, "displayStop": 56352364, "variantLength": 29375}, "hgncIds": ["HGNC:15290"]} +{"accession": {"accession": "VCV000145011", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134414", "version": 3}, "title": "GRCh38/hg38 12q14.3(chr12:66783512-66855222)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 12q14.3(chr12:66783512-66855222)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "innerStart": 67177292, "innerStop": 67249002, "displayStart": 67177292, "displayStop": 67249002, "variantLength": 71711}, "hgncIds": ["HGNC:18708"]} +{"accession": {"accession": "VCV000145014", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134417", "version": 3}, "title": "GRCh38/hg38 12q12(chr12:45273857-45388630)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 12q12(chr12:45273857-45388630)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "innerStart": 45667640, "innerStop": 45782413, "displayStart": 45667640, "displayStop": 45782413, "variantLength": 114774}, "hgncIds": ["HGNC:25240"]} +{"accession": {"accession": "VCV000145015", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134418", "version": 3}, "title": "GRCh38/hg38 12q14.3(chr12:66789696-66816559)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 12q14.3(chr12:66789696-66816559)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "innerStart": 67183476, "innerStop": 67210339, "displayStart": 67183476, "displayStop": 67210339, "variantLength": 26864}, "hgncIds": ["HGNC:18708"]} +{"accession": {"accession": "VCV000145019", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134422", "version": 3}, "title": "GRCh38/hg38 13q21.33(chr13:72252165-72443196)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 13q21.33(chr13:72252165-72443196)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_13", "accession": "NC_000013.10", "innerStart": 72826303, "innerStop": 73017334, "displayStart": 72826303, "displayStop": 73017334, "variantLength": 191032}} +{"accession": {"accession": "VCV000145020", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134423", "version": 3}, "title": "GRCh37/hg19 13q11(chr13:19327344-19380812)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 13q11(chr13:19327344-19380812)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_13", "accession": "NC_000013.10", "innerStart": 19327344, "innerStop": 19380812, "displayStart": 19327344, "displayStop": 19380812, "variantLength": 53469}} +{"accession": {"accession": "VCV000145027", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134430", "version": 3}, "title": "GRCh38/hg38 14q21.2(chr14:43387283-43754611)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 14q21.2(chr14:43387283-43754611)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_14", "accession": "NC_000014.8", "innerStart": 43856486, "innerStop": 44223814, "displayStart": 43856486, "displayStop": 44223814, "variantLength": 367329}} +{"accession": {"accession": "VCV000145031", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134434", "version": 3}, "title": "GRCh38/hg38 15q26.1(chr15:93674817-93791360)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 15q26.1(chr15:93674817-93791360)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_15", "accession": "NC_000015.9", "innerStart": 94218046, "innerStop": 94334589, "displayStart": 94218046, "displayStop": 94334589, "variantLength": 116544}} +{"accession": {"accession": "VCV000145026", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134429", "version": 4}, "title": "GRCh38/hg38 14q21.2(chr14:45352239-45510467)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 14q21.2(chr14:45352239-45510467)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_14", "accession": "NC_000014.8", "innerStart": 45821442, "innerStop": 45979670, "displayStart": 45821442, "displayStop": 45979670, "variantLength": 158229}} +{"accession": {"accession": "VCV000145035", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134438", "version": 3}, "title": "GRCh38/hg38 15q21.3(chr15:57363807-57456076)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 15q21.3(chr15:57363807-57456076)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_15", "accession": "NC_000015.9", "innerStart": 57656005, "innerStop": 57748274, "displayStart": 57656005, "displayStop": 57748274, "variantLength": 92270}, "hgncIds": ["HGNC:25931"]} +{"accession": {"accession": "VCV000145036", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134439", "version": 3}, "title": "GRCh38/hg38 15q24.2(chr15:75249521-75296694)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 15q24.2(chr15:75249521-75296694)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_15", "accession": "NC_000015.9", "innerStart": 75541862, "innerStop": 75589035, "displayStart": 75541862, "displayStop": 75589035, "variantLength": 47174}, "hgncIds": ["HGNC:32206", "HGNC:32204"]} +{"accession": {"accession": "VCV000145039", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134442", "version": 3}, "title": "GRCh38/hg38 15q24.2(chr15:75260306-75296694)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 15q24.2(chr15:75260306-75296694)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_15", "accession": "NC_000015.9", "innerStart": 75552647, "innerStop": 75589035, "displayStart": 75552647, "displayStop": 75589035, "variantLength": 36389}, "hgncIds": ["HGNC:32206", "HGNC:32204"]} +{"accession": {"accession": "VCV000145043", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134446", "version": 3}, "title": "GRCh38/hg38 16p13.3(chr16:22769-32412)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 16p13.3(chr16:22769-32412)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_16", "accession": "NC_000016.9", "innerStart": 72769, "innerStop": 82412, "displayStart": 72769, "displayStop": 82412, "variantLength": 9644}, "hgncIds": ["HGNC:38609"]} +{"accession": {"accession": "VCV000145044", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134447", "version": 4}, "title": "GRCh38/hg38 16p13.3(chr16:22769-32412)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 16p13.3(chr16:22769-32412)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_16", "accession": "NC_000016.9", "innerStart": 72769, "innerStop": 82412, "displayStart": 72769, "displayStop": 82412, "variantLength": 9644}, "hgncIds": ["HGNC:38609"]} +{"accession": {"accession": "VCV000145078", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134480", "version": 3}, "title": "GRCh38/hg38 18p11.32(chr18:14316-69754)x4 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 18p11.32(chr18:14316-69754)x4", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_18", "accession": "NC_000018.9", "innerStart": 14316, "innerStop": 69754, "displayStart": 14316, "displayStop": 69754, "variantLength": 55439}, "hgncIds": ["HGNC:53604", "HGNC:24983"]} +{"accession": {"accession": "VCV000145082", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134484", "version": 3}, "title": "GRCh38/hg38 19p13.3(chr19:91171-202952)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 19p13.3(chr19:91171-202952)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_19", "accession": "NC_000019.9", "innerStart": 91171, "innerStop": 202952, "displayStart": 91171, "displayStop": 202952, "variantLength": 111782}, "hgncIds": ["HGNC:38538", "HGNC:15381"]} +{"accession": {"accession": "VCV000145046", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134449", "version": 4}, "title": "GRCh38/hg38 16p13.3(chr16:19193-32412)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 16p13.3(chr16:19193-32412)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_16", "accession": "NC_000016.9", "innerStart": 69193, "innerStop": 82412, "displayStart": 69193, "displayStop": 82412, "variantLength": 13220}, "hgncIds": ["HGNC:38609"]} +{"accession": {"accession": "VCV000145060", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134462", "version": 4}, "title": "GRCh38/hg38 17p11.2(chr17:19601336-19632996)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2013-06-25T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 17p11.2(chr17:19601336-19632996)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2013-06-25T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_17", "accession": "NC_000017.10", "innerStart": 19504649, "innerStop": 19536309, "displayStart": 19504649, "displayStop": 19536309, "variantLength": 31661}} +{"accession": {"accession": "VCV000145061", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134463", "version": 3}, "title": "GRCh38/hg38 17p11.2(chr17:19601336-19632996)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 17p11.2(chr17:19601336-19632996)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_17", "accession": "NC_000017.10", "innerStart": 19504649, "innerStop": 19536309, "displayStart": 19504649, "displayStop": 19536309, "variantLength": 31661}} +{"accession": {"accession": "VCV000145094", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134496", "version": 3}, "title": "GRCh38/hg38 19q13.2(chr19:40942916-41005044)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 19q13.2(chr19:40942916-41005044)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_19", "accession": "NC_000019.9", "innerStart": 41448821, "innerStop": 41510949, "displayStart": 41448821, "displayStop": 41510949, "variantLength": 62129}, "hgncIds": ["HGNC:2615"]} +{"accession": {"accession": "VCV000145069", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134471", "version": 3}, "title": "GRCh38/hg38 17p12(chr17:14464946-14519690)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 17p12(chr17:14464946-14519690)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_17", "accession": "NC_000017.10", "innerStart": 14368263, "innerStop": 14423007, "displayStart": 14368263, "displayStop": 14423007, "variantLength": 54745}} +{"accession": {"accession": "VCV000145063", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134465", "version": 3}, "title": "GRCh38/hg38 17q11.2(chr17:27664946-27734947)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 17q11.2(chr17:27664946-27734947)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_17", "accession": "NC_000017.10", "innerStart": 25991972, "innerStop": 26061973, "displayStart": 25991972, "displayStop": 26061973, "variantLength": 70002}} +{"accession": {"accession": "VCV000145110", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134512", "version": 4}, "title": "GRCh38/hg38 22q11.1(chr22:16786503-16809385)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 22q11.1(chr22:16786503-16809385)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_22", "accession": "NC_000022.10", "innerStart": 17267393, "innerStop": 17290275, "displayStart": 17267393, "displayStop": 17290275, "variantLength": 22883}, "hgncIds": ["HGNC:28778"]} +{"accession": {"accession": "VCV000145084", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134486", "version": 3}, "title": "GRCh38/hg38 19p13.3(chr19:74459-113418)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 19p13.3(chr19:74459-113418)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_19", "accession": "NC_000019.9", "innerStart": 74459, "innerStop": 113418, "displayStart": 74459, "displayStop": 113418, "variantLength": 38960}, "hgncIds": ["HGNC:33581", "HGNC:15381"]} +{"accession": {"accession": "VCV000145079", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134481", "version": 3}, "title": "GRCh38/hg38 18p11.32(chr18:14316-69754)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 18p11.32(chr18:14316-69754)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_18", "accession": "NC_000018.9", "innerStart": 14316, "innerStop": 69754, "displayStart": 14316, "displayStop": 69754, "variantLength": 55439}, "hgncIds": ["HGNC:53604", "HGNC:24983"]} +{"accession": {"accession": "VCV000145092", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134494", "version": 3}, "title": "GRCh38/hg38 19p13.3(chr19:61112-113418)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 19p13.3(chr19:61112-113418)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_19", "accession": "NC_000019.9", "innerStart": 61112, "innerStop": 113418, "displayStart": 61112, "displayStop": 113418, "variantLength": 52307}, "hgncIds": ["HGNC:33581", "HGNC:38246", "HGNC:15381"]} +{"accession": {"accession": "VCV000145122", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134524", "version": 4}, "title": "GRCh38/hg38 Xq23(chrX:114983873-115160979)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq23(chrX:114983873-115160979)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 114218436, "innerStop": 114395542, "displayStart": 114218436, "displayStop": 114395542, "variantLength": 177107}, "hgncIds": ["HGNC:5975", "HGNC:29292", "HGNC:52202"]} +{"accession": {"accession": "VCV000145077", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134479", "version": 3}, "title": "GRCh38/hg38 18p11.32(chr18:14316-69754)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 18p11.32(chr18:14316-69754)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_18", "accession": "NC_000018.9", "innerStart": 14316, "innerStop": 69754, "displayStart": 14316, "displayStop": 69754, "variantLength": 55439}, "hgncIds": ["HGNC:53604", "HGNC:24983"]} +{"accession": {"accession": "VCV000145081", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134483", "version": 3}, "title": "GRCh38/hg38 19p13.3(chr19:61112-168688)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 19p13.3(chr19:61112-168688)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_19", "accession": "NC_000019.9", "innerStart": 61112, "innerStop": 168688, "displayStart": 61112, "displayStop": 168688, "variantLength": 107577}, "hgncIds": ["HGNC:33581", "HGNC:38246", "HGNC:15381"]} +{"accession": {"accession": "VCV000145091", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134493", "version": 3}, "title": "GRCh38/hg38 19p13.3(chr19:61112-113418)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 19p13.3(chr19:61112-113418)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_19", "accession": "NC_000019.9", "innerStart": 61112, "innerStop": 113418, "displayStart": 61112, "displayStop": 113418, "variantLength": 52307}, "hgncIds": ["HGNC:33581", "HGNC:38246", "HGNC:15381"]} +{"accession": {"accession": "VCV000145104", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134506", "version": 3}, "title": "GRCh38/hg38 21q21.1(chr21:22354814-22461210)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 21q21.1(chr21:22354814-22461210)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_21", "accession": "NC_000021.8", "innerStart": 23727134, "innerStop": 23833530, "displayStart": 23727134, "displayStop": 23833530, "variantLength": 106397}} +{"accession": {"accession": "VCV000145134", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134536", "version": 3}, "title": "GRCh38/hg38 Xq21.33(chrX:95161438-95207591)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.33(chrX:95161438-95207591)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 94416437, "innerStop": 94462590, "displayStart": 94416437, "displayStop": 94462590, "variantLength": 46154}} +{"accession": {"accession": "VCV000145085", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134487", "version": 3}, "title": "GRCh38/hg38 19p13.3(chr19:74459-113418)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 19p13.3(chr19:74459-113418)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_19", "accession": "NC_000019.9", "innerStart": 74459, "innerStop": 113418, "displayStart": 74459, "displayStop": 113418, "variantLength": 38960}, "hgncIds": ["HGNC:33581", "HGNC:15381"]} +{"accession": {"accession": "VCV000145099", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134501", "version": 3}, "title": "GRCh38/hg38 20q12(chr20:42438777-42478707)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 20q12(chr20:42438777-42478707)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_20", "accession": "NC_000020.10", "innerStart": 41067417, "innerStop": 41107347, "displayStart": 41067417, "displayStop": 41107347, "variantLength": 39931}, "hgncIds": ["HGNC:9682"]} +{"accession": {"accession": "VCV000145142", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134544", "version": 3}, "title": "GRCh38/hg38 Xq21.1(chrX:77798947-77887557)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.1(chrX:77798947-77887557)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 77054444, "innerStop": 77143054, "displayStart": 77054444, "displayStop": 77143054, "variantLength": 88611}, "hgncIds": ["HGNC:28880"]} +{"accession": {"accession": "VCV000145150", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134552", "version": 3}, "title": "GRCh38/hg38 Xq28(chrX:149563232-149570094)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:149563232-149570094)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 148644765, "innerStop": 148651627, "displayStart": 148644765, "displayStop": 148651627, "variantLength": 6863}} +{"accession": {"accession": "VCV000145124", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134526", "version": 3}, "title": "GRCh38/hg38 Xq28(chrX:156006941-156020513)x4 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:156006941-156020513)x4", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 155236606, "innerStop": 155250178, "displayStart": 155236606, "displayStop": 155250178, "variantLength": 13573}, "hgncIds": ["HGNC:6030", "HGNC:38513"]} +{"accession": {"accession": "VCV000145154", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134556", "version": 3}, "title": "GRCh38/hg38 Xq21.33(chrX:95093476-95133723)x4 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.33(chrX:95093476-95133723)x4", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 94348475, "innerStop": 94388722, "displayStart": 94348475, "displayStop": 94388722, "variantLength": 40248}} +{"accession": {"accession": "VCV000145105", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134507", "version": 3}, "title": "GRCh38/hg38 21q21.1(chr21:18039705-18229810)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 21q21.1(chr21:18039705-18229810)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_21", "accession": "NC_000021.8", "innerStart": 19412023, "innerStop": 19602127, "displayStart": 19412023, "displayStop": 19602127, "variantLength": 190105}, "hgncIds": ["HGNC:17807"]} +{"accession": {"accession": "VCV000145128", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134530", "version": 4}, "title": "GRCh38/hg38 Xq28(chrX:156006941-156026127)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:156006941-156026127)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 155236606, "innerStop": 155255792, "displayStart": 155236606, "displayStop": 155255792, "variantLength": 19187}, "hgncIds": ["HGNC:6030", "HGNC:38513"]} +{"accession": {"accession": "VCV000145158", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134560", "version": 3}, "title": "GRCh38/hg38 Xq11.1(chrX:62712219-62927396)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq11.1(chrX:62712219-62927396)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 61931689, "innerStop": 62146866, "displayStart": 61931689, "displayStop": 62146866, "variantLength": 215178}} +{"accession": {"accession": "VCV000145132", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134534", "version": 3}, "title": "GRCh38/hg38 Xq28(chrX:155492709-155547057)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:155492709-155547057)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 154722370, "innerStop": 154776718, "displayStart": 154722370, "displayStop": 154776718, "variantLength": 54349}, "hgncIds": ["HGNC:18308", "HGNC:44261"]} +{"accession": {"accession": "VCV000145115", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134517", "version": 3}, "title": "GRCh37/hg19 22q11.1(chr22:16054691-17450189)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 22q11.1(chr22:16054691-17450189)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"forDisplay": true, "assembly": "GRCh37", "chr": "CHROMOSOME_22", "accession": "NC_000022.10", "innerStart": 16054691, "innerStop": 17450189, "displayStart": 16054691, "displayStop": 17450189, "variantLength": 1395499}, "hgncIds": ["HGNC:15553", "HGNC:18325", "HGNC:15404", "HGNC:133", "HGNC:28778"]} +{"accession": {"accession": "VCV000145140", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134542", "version": 3}, "title": "GRCh38/hg38 Xq27.3(chrX:144675423-144761682)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq27.3(chrX:144675423-144761682)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 143756944, "innerStop": 143843203, "displayStart": 143756944, "displayStop": 143843203, "variantLength": 86260}} +{"accession": {"accession": "VCV000145123", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134525", "version": 4}, "title": "GRCh38/hg38 Xq28(chrX:155785125-155806648)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:155785125-155806648)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 155014787, "innerStop": 155036311, "displayStart": 155014787, "displayStop": 155036311, "variantLength": 21525}} +{"accession": {"accession": "VCV000145121", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134523", "version": 3}, "title": "GRCh38/hg38 Xq23(chrX:114983873-115160979)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq23(chrX:114983873-115160979)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 114218436, "innerStop": 114395542, "displayStart": 114218436, "displayStop": 114395542, "variantLength": 177107}, "hgncIds": ["HGNC:5975", "HGNC:29292", "HGNC:52202"]} +{"accession": {"accession": "VCV000145144", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134546", "version": 3}, "title": "GRCh38/hg38 Xq23(chrX:116810579-116913080)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq23(chrX:116810579-116913080)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 115944547, "innerStop": 116047048, "displayStart": 115944547, "displayStop": 116047048, "variantLength": 102502}} +{"accession": {"accession": "VCV000145125", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134527", "version": 3}, "title": "GRCh38/hg38 Xp21.1(chrX:32557406-32754551)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp21.1(chrX:32557406-32754551)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 32575523, "innerStop": 32772668, "displayStart": 32575523, "displayStop": 32772668, "variantLength": 197146}, "hgncIds": ["HGNC:2928", "HGNC:38955", "HGNC:35309"]} +{"accession": {"accession": "VCV000145148", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134550", "version": 3}, "title": "GRCh38/hg38 Xp22.31(chrX:8098997-8216172)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.31(chrX:8098997-8216172)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 8067038, "innerStop": 8184213, "displayStart": 8067038, "displayStop": 8184213, "variantLength": 117176}, "hgncIds": ["HGNC:32907", "HGNC:18158"]} +{"accession": {"accession": "VCV000145178", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134580", "version": 3}, "title": "GRCh38/hg38 Yq11.21(chrY:11549246-11699355)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.21(chrY:11549246-11699355)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 13704922, "innerStop": 13820061, "displayStart": 13704922, "displayStop": 13820061, "variantLength": 115140}} +{"accession": {"accession": "VCV000145129", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134531", "version": 3}, "title": "GRCh38/hg38 Xq28(chrX:156006941-156026127)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:156006941-156026127)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 155236606, "innerStop": 155255792, "displayStart": 155236606, "displayStop": 155255792, "variantLength": 19187}, "hgncIds": ["HGNC:6030", "HGNC:38513"]} +{"accession": {"accession": "VCV000145152", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134554", "version": 3}, "title": "GRCh38/hg38 Xq21.33(chrX:95093476-95133723)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.33(chrX:95093476-95133723)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 94348475, "innerStop": 94388722, "displayStart": 94348475, "displayStop": 94388722, "variantLength": 40248}} +{"accession": {"accession": "VCV000145135", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134537", "version": 3}, "title": "GRCh38/hg38 Xq21.33(chrX:95060190-95120944)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.33(chrX:95060190-95120944)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 94315189, "innerStop": 94375943, "displayStart": 94315189, "displayStop": 94375943, "variantLength": 60755}, "hgncIds": ["HGNC:35331"]} +{"accession": {"accession": "VCV000145182", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134584", "version": 3}, "title": "GRCh38/hg38 Yq11.221(chrY:13988013-13992240)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.221(chrY:13988013-13992240)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 16099893, "innerStop": 16104120, "displayStart": 16099893, "displayStop": 16104120, "variantLength": 4228}} +{"accession": {"accession": "VCV000145156", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134558", "version": 3}, "title": "GRCh38/hg38 Xp22.31(chrX:6837101-6900626)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.31(chrX:6837101-6900626)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 6755142, "innerStop": 6818667, "displayStart": 6755142, "displayStop": 6818667, "variantLength": 63526}, "hgncIds": ["HGNC:16818"]} +{"accession": {"accession": "VCV000145139", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134541", "version": 3}, "title": "GRCh38/hg38 Xp11.4-11.3(chrX:42471865-42582707)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp11.4-11.3(chrX:42471865-42582707)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 42331117, "innerStop": 42441959, "displayStart": 42331117, "displayStop": 42441959, "variantLength": 110843}} +{"accession": {"accession": "VCV000145186", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134588", "version": 3}, "title": "GRCh38/hg38 Yq11.21(chrY:11520247-11727435)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.21(chrY:11520247-11727435)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 13675923, "innerStop": 13848141, "displayStart": 13675923, "displayStop": 13848141, "variantLength": 172219}} +{"accession": {"accession": "VCV000145137", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134539", "version": 3}, "title": "GRCh38/hg38 Xq21.33(chrX:95060190-95120944)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.33(chrX:95060190-95120944)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 94315189, "innerStop": 94375943, "displayStart": 94315189, "displayStop": 94375943, "variantLength": 60755}, "hgncIds": ["HGNC:35331"]} +{"accession": {"accession": "VCV000145160", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134562", "version": 3}, "title": "GRCh38/hg38 Xq25(chrX:126057696-126167905)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq25(chrX:126057696-126167905)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 125191679, "innerStop": 125301888, "displayStart": 125191679, "displayStop": 125301888, "variantLength": 110210}, "hgncIds": ["HGNC:32950"]} +{"accession": {"accession": "VCV000145143", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134545", "version": 3}, "title": "GRCh38/hg38 Xq21.1(chrX:77798947-77887557)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.1(chrX:77798947-77887557)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Uncertain significance", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 77054444, "innerStop": 77143054, "displayStart": 77054444, "displayStop": 77143054, "variantLength": 88611}, "hgncIds": ["HGNC:28880"]} +{"accession": {"accession": "VCV000145190", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134592", "version": 3}, "title": "GRCh38/hg38 Yq11.21(chrY:11567346-11589758)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.21(chrY:11567346-11589758)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 13723022, "innerStop": 13745434, "displayStart": 13723022, "displayStop": 13745434, "variantLength": 22413}} +{"accession": {"accession": "VCV000145141", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134543", "version": 3}, "title": "GRCh38/hg38 Xq25(chrX:123473778-123593934)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Pathogenic", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq25(chrX:123473778-123593934)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Pathogenic", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 122607629, "innerStop": 122727785, "displayStart": 122607629, "displayStop": 122727785, "variantLength": 120157}, "hgncIds": ["HGNC:4573"]} +{"accession": {"accession": "VCV000145147", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134549", "version": 3}, "title": "GRCh38/hg38 Xp22.31(chrX:6531603-6536054)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.31(chrX:6531603-6536054)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 6449644, "innerStop": 6454095, "displayStart": 6449644, "displayStop": 6454095, "variantLength": 4452}, "hgncIds": ["HGNC:18159"]} +{"accession": {"accession": "VCV000145145", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134547", "version": 3}, "title": "GRCh38/hg38 Xq23(chrX:116810579-116913080)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq23(chrX:116810579-116913080)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 115944547, "innerStop": 116047048, "displayStart": 115944547, "displayStop": 116047048, "variantLength": 102502}} +{"accession": {"accession": "VCV000145151", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134553", "version": 4}, "title": "GRCh38/hg38 Xq28(chrX:149563232-149570094)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:149563232-149570094)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 148644765, "innerStop": 148651627, "displayStart": 148644765, "displayStop": 148651627, "variantLength": 6863}} +{"accession": {"accession": "VCV000145172", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134574", "version": 3}, "title": "GRCh38/hg38 Xq23(chrX:117007957-117061129)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq23(chrX:117007957-117061129)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 116141925, "innerStop": 116195097, "displayStart": 116141925, "displayStop": 116195097, "variantLength": 53173}} +{"accession": {"accession": "VCV000145155", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134557", "version": 3}, "title": "GRCh38/hg38 Xp22.31(chrX:6837101-6900626)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.31(chrX:6837101-6900626)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 6755142, "innerStop": 6818667, "displayStart": 6755142, "displayStop": 6818667, "variantLength": 63526}, "hgncIds": ["HGNC:16818"]} +{"accession": {"accession": "VCV000145153", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134555", "version": 3}, "title": "GRCh38/hg38 Xq21.33(chrX:95093476-95133723)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.33(chrX:95093476-95133723)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 94348475, "innerStop": 94388722, "displayStart": 94348475, "displayStop": 94388722, "variantLength": 40248}} +{"accession": {"accession": "VCV000145176", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134578", "version": 3}, "title": "GRCh38/hg38 Yq11.21(chrY:11520247-11589758)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.21(chrY:11520247-11589758)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 13675923, "innerStop": 13745434, "displayStart": 13675923, "displayStop": 13745434, "variantLength": 69512}} +{"accession": {"accession": "VCV000145157", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134559", "version": 3}, "title": "GRCh38/hg38 Xq11.1(chrX:62712219-62927396)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq11.1(chrX:62712219-62927396)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 61931689, "innerStop": 62146866, "displayStart": 61931689, "displayStop": 62146866, "variantLength": 215178}} +{"accession": {"accession": "VCV000145159", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134561", "version": 3}, "title": "GRCh38/hg38 Xq23(chrX:117275824-117332780)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq23(chrX:117275824-117332780)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 116409787, "innerStop": 116466743, "displayStart": 116409787, "displayStop": 116466743, "variantLength": 56957}} +{"accession": {"accession": "VCV000145180", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134582", "version": 3}, "title": "GRCh38/hg38 Yp11.32(chrY:20297-39498)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yp11.32(chrY:20297-39498)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 20297, "innerStop": 39498, "displayStart": 20297, "displayStop": 39498, "variantLength": 19202}} +{"accession": {"accession": "VCV000145210", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134612", "version": 3}, "title": "GRCh38/hg38 11q14.3(chr11:89898811-89923744)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 11q14.3(chr11:89898811-89923744)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "innerStart": 89631979, "innerStop": 89656912, "displayStart": 89631979, "displayStop": 89656912, "variantLength": 24934}, "hgncIds": ["HGNC:43973"]} +{"accession": {"accession": "VCV000145161", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134563", "version": 3}, "title": "GRCh38/hg38 Xq25(chrX:126057696-126167905)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq25(chrX:126057696-126167905)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 125191679, "innerStop": 125301888, "displayStart": 125191679, "displayStop": 125301888, "variantLength": 110210}, "hgncIds": ["HGNC:32950"]} +{"accession": {"accession": "VCV000145163", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134565", "version": 4}, "title": "GRCh38/hg38 Xp22.33(chrX:948314-1152369)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.33(chrX:948314-1152369)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 909049, "innerStop": 1252522, "displayStart": 909049, "displayStop": 1252522, "variantLength": 343474}} +{"accession": {"accession": "VCV000145184", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134586", "version": 3}, "title": "GRCh38/hg38 Yq11.221(chrY:13988013-14282011)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.221(chrY:13988013-14282011)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 16099893, "innerStop": 16393891, "displayStart": 16099893, "displayStop": 16393891, "variantLength": 293999}, "hgncIds": ["HGNC:31751"]} +{"accession": {"accession": "VCV000145214", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134616", "version": 3}, "title": "GRCh38/hg38 6p22.3(chr6:19479716-19570142)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6p22.3(chr6:19479716-19570142)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 19479947, "innerStop": 19570373, "displayStart": 19479947, "displayStop": 19570373, "variantLength": 90427}} +{"accession": {"accession": "VCV000145188", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134590", "version": 3}, "title": "GRCh38/hg38 Yq11.221(chrY:15159149-15172469)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.221(chrY:15159149-15172469)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 17271029, "innerStop": 17284349, "displayStart": 17271029, "displayStop": 17284349, "variantLength": 13321}} +{"accession": {"accession": "VCV000145192", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134594", "version": 3}, "title": "GRCh38/hg38 Yq11.21(chrY:11466379-11728747)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.21(chrY:11466379-11728747)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 13622055, "innerStop": 13849453, "displayStart": 13622055, "displayStop": 13849453, "variantLength": 227399}} +{"accession": {"accession": "VCV000145173", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134575", "version": 3}, "title": "GRCh38/hg38 Xq25(chrX:126191293-126226243)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq25(chrX:126191293-126226243)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 125325276, "innerStop": 125360226, "displayStart": 125325276, "displayStop": 125360226, "variantLength": 34951}} +{"accession": {"accession": "VCV000145175", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134577", "version": 3}, "title": "GRCh38/hg38 Xq27.1(chrX:140526750-140959316)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Uncertain significance", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq27.1(chrX:140526750-140959316)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Uncertain significance", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 139608915, "innerStop": 140041481, "displayStart": 139608915, "displayStop": 140041481, "variantLength": 432567}, "hgncIds": ["HGNC:1798", "HGNC:27865", "HGNC:35388"]} +{"accession": {"accession": "VCV000145196", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134598", "version": 3}, "title": "GRCh37/hg19 1q12-21.1(chr1:142594227-142642753)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 1q12-21.1(chr1:142594227-142642753)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 142594227, "innerStop": 142642753, "displayStart": 142594227, "displayStop": 142642753, "variantLength": 48527}} +{"accession": {"accession": "VCV000145226", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134628", "version": 3}, "title": "GRCh38/hg38 9q31.2(chr9:105935122-106247033)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9q31.2(chr9:105935122-106247033)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 108697403, "innerStop": 109009314, "displayStart": 108697403, "displayStop": 109009314, "variantLength": 311912}} +{"accession": {"accession": "VCV000145177", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134579", "version": 3}, "title": "GRCh38/hg38 Yq11.21(chrY:11520247-11589758)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.21(chrY:11520247-11589758)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 13675923, "innerStop": 13745434, "displayStart": 13675923, "displayStop": 13745434, "variantLength": 69512}} +{"accession": {"accession": "VCV000145181", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134583", "version": 3}, "title": "GRCh38/hg38 Yp11.32(chrY:20297-39498)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yp11.32(chrY:20297-39498)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 20297, "innerStop": 39498, "displayStart": 20297, "displayStop": 39498, "variantLength": 19202}} +{"accession": {"accession": "VCV000145183", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134585", "version": 3}, "title": "GRCh38/hg38 Yq11.221(chrY:14050442-14076802)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.221(chrY:14050442-14076802)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 16162322, "innerStop": 16188682, "displayStart": 16162322, "displayStop": 16188682, "variantLength": 26361}, "hgncIds": ["HGNC:31751"]} +{"accession": {"accession": "VCV000145204", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134606", "version": 3}, "title": "GRCh38/hg38 Yq12(chrY:57158248-57190847)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq12(chrY:57158248-57190847)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 59304399, "innerStop": 59336998, "displayStart": 59304399, "displayStop": 59336998, "variantLength": 32600}, "hgncIds": ["HGNC:6030"]} +{"accession": {"accession": "VCV000145185", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134587", "version": 3}, "title": "GRCh38/hg38 Yq11.223(chrY:21927773-22091977)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.223(chrY:21927773-22091977)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 24073920, "innerStop": 24238124, "displayStart": 24073920, "displayStop": 24238124, "variantLength": 164205}, "hgncIds": ["HGNC:21504"]} +{"accession": {"accession": "VCV000145187", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134589", "version": 3}, "title": "GRCh38/hg38 Yp11.2(chrY:948314-1152369)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yp11.2(chrY:948314-1152369)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 859049, "innerStop": 1202522, "displayStart": 859049, "displayStop": 1202522, "variantLength": 343474}} +{"accession": {"accession": "VCV000145208", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134610", "version": 3}, "title": "GRCh37/hg19 1q21.1(chr1:143134063-143284670)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 1q21.1(chr1:143134063-143284670)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 143134063, "innerStop": 143284670, "displayStart": 143134063, "displayStop": 143284670, "variantLength": 150608}} +{"accession": {"accession": "VCV000145238", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134640", "version": 3}, "title": "GRCh38/hg38 Xq25(chrX:125968010-126153202)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq25(chrX:125968010-126153202)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 125101992, "innerStop": 125287185, "displayStart": 125101992, "displayStop": 125287185, "variantLength": 185194}} +{"accession": {"accession": "VCV000145189", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134591", "version": 3}, "title": "GRCh38/hg38 Yq11.221(chrY:13966017-14054658)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.221(chrY:13966017-14054658)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 16077897, "innerStop": 16166538, "displayStart": 16077897, "displayStop": 16166538, "variantLength": 88642}, "hgncIds": ["HGNC:12668"]} +{"accession": {"accession": "VCV000145191", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134593", "version": 3}, "title": "GRCh38/hg38 Yq11.21(chrY:11567346-11589758)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.21(chrY:11567346-11589758)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 13723022, "innerStop": 13745434, "displayStart": 13723022, "displayStop": 13745434, "variantLength": 22413}} +{"accession": {"accession": "VCV000145212", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134614", "version": 3}, "title": "GRCh38/hg38 14q21.3(chr14:48317570-48437083)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 14q21.3(chr14:48317570-48437083)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_14", "accession": "NC_000014.8", "innerStart": 48786773, "innerStop": 48906286, "displayStart": 48786773, "displayStop": 48906286, "variantLength": 119514}} +{"accession": {"accession": "VCV000145242", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134644", "version": 3}, "title": "GRCh38/hg38 3q26.1(chr3:161717568-161802775)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3q26.1(chr3:161717568-161802775)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 161435356, "innerStop": 161520563, "displayStart": 161435356, "displayStop": 161520563, "variantLength": 85208}} +{"accession": {"accession": "VCV000145195", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134597", "version": 4}, "title": "GRCh38/hg38 20q13.12(chr20:45722054-45741776)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 20q13.12(chr20:45722054-45741776)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_20", "accession": "NC_000020.10", "innerStart": 44350693, "innerStop": 44370415, "displayStart": 44350693, "displayStop": 44370415, "variantLength": 19723}, "hgncIds": ["HGNC:16130"]} +{"accession": {"accession": "VCV000145216", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134618", "version": 3}, "title": "GRCh38/hg38 10q21.3(chr10:66684077-66756761)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 10q21.3(chr10:66684077-66756761)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 68443835, "innerStop": 68516519, "displayStart": 68443835, "displayStop": 68516519, "variantLength": 72685}, "hgncIds": ["HGNC:2511"]} +{"accession": {"accession": "VCV000145246", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134648", "version": 3}, "title": "GRCh38/hg38 16p11.2(chr16:29714273-29727067)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 16p11.2(chr16:29714273-29727067)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_16", "accession": "NC_000016.9", "innerStart": 29725594, "innerStop": 29738388, "displayStart": 29725594, "displayStop": 29738388, "variantLength": 12795}} +{"accession": {"accession": "VCV000145197", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134599", "version": 3}, "title": "GRCh38/hg38 19q13.41(chr19:52824788-52849347)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 19q13.41(chr19:52824788-52849347)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_19", "accession": "NC_000019.9", "innerStart": 53328041, "innerStop": 53352600, "displayStart": 53328041, "displayStop": 53352600, "variantLength": 24560}, "hgncIds": ["HGNC:33105", "HGNC:30951"]} +{"accession": {"accession": "VCV000145199", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134601", "version": 3}, "title": "GRCh38/hg38 Yp11.2(chrY:820336-858435)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yp11.2(chrY:820336-858435)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 731071, "innerStop": 769170, "displayStart": 731071, "displayStop": 769170, "variantLength": 38100}} +{"accession": {"accession": "VCV000145220", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134622", "version": 3}, "title": "GRCh38/hg38 3p12.2(chr3:82116407-82199434)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p12.2(chr3:82116407-82199434)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 82165558, "innerStop": 82248585, "displayStart": 82165558, "displayStop": 82248585, "variantLength": 83028}, "hgncIds": ["HGNC:52844"]} +{"accession": {"accession": "VCV000145201", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134603", "version": 3}, "title": "GRCh38/hg38 7q11.23(chr7:73324677-73352304)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7q11.23(chr7:73324677-73352304)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 72738675, "innerStop": 72766313, "displayStart": 72738675, "displayStop": 72766313, "variantLength": 27639}, "hgncIds": ["HGNC:3722", "HGNC:19017"]} +{"accession": {"accession": "VCV000145203", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134605", "version": 3}, "title": "GRCh38/hg38 Xq28(chrX:155971728-156004327)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:155971728-156004327)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 155201393, "innerStop": 155233992, "displayStart": 155201393, "displayStop": 155233992, "variantLength": 32600}, "hgncIds": ["HGNC:6030"]} +{"accession": {"accession": "VCV000145224", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134626", "version": 4}, "title": "GRCh38/hg38 13q31.3(chr13:91521052-91597567)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 13q31.3(chr13:91521052-91597567)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_13", "accession": "NC_000013.10", "innerStart": 92173306, "innerStop": 92249821, "displayStart": 92173306, "displayStop": 92249821, "variantLength": 76516}, "hgncIds": ["HGNC:4453"]} +{"accession": {"accession": "VCV000145254", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134656", "version": 3}, "title": "GRCh38/hg38 19p13.3(chr19:61112-202952)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 19p13.3(chr19:61112-202952)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_19", "accession": "NC_000019.9", "innerStart": 61112, "innerStop": 202952, "displayStart": 61112, "displayStop": 202952, "variantLength": 141841}, "hgncIds": ["HGNC:33581", "HGNC:38538", "HGNC:38246", "HGNC:15381"]} +{"accession": {"accession": "VCV000145207", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134609", "version": 3}, "title": "GRCh38/hg38 Xq21.31(chrX:91959316-91991062)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.31(chrX:91959316-91991062)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 91214315, "innerStop": 91246061, "displayStart": 91214315, "displayStop": 91246061, "variantLength": 31747}, "hgncIds": ["HGNC:8656"]} +{"accession": {"accession": "VCV000145258", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134660", "version": 3}, "title": "GRCh38/hg38 2q32.1(chr2:186215422-186309002)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2q32.1(chr2:186215422-186309002)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 187080149, "innerStop": 187173729, "displayStart": 187080149, "displayStop": 187173729, "variantLength": 93581}} +{"accession": {"accession": "VCV000145209", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134611", "version": 4}, "title": "GRCh38/hg38 3q29(chr3:195654549-195699004)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3q29(chr3:195654549-195699004)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 195381420, "innerStop": 195425875, "displayStart": 195381420, "displayStop": 195425875, "variantLength": 44456}, "hgncIds": ["HGNC:53743"]} +{"accession": {"accession": "VCV000145211", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134613", "version": 3}, "title": "GRCh38/hg38 3p24.2(chr3:26019191-26238094)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p24.2(chr3:26019191-26238094)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 26060682, "innerStop": 26279585, "displayStart": 26060682, "displayStop": 26279585, "variantLength": 218904}} +{"accession": {"accession": "VCV000145262", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134664", "version": 3}, "title": "GRCh38/hg38 7p21.3(chr7:13116890-13262814)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7p21.3(chr7:13116890-13262814)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 13156515, "innerStop": 13302439, "displayStart": 13156515, "displayStop": 13302439, "variantLength": 145925}} +{"accession": {"accession": "VCV000145213", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134615", "version": 3}, "title": "GRCh38/hg38 13q14.3-21.1(chr13:54579853-54883578)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 13q14.3-21.1(chr13:54579853-54883578)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_13", "accession": "NC_000013.10", "innerStart": 55153988, "innerStop": 55457713, "displayStart": 55153988, "displayStop": 55457713, "variantLength": 303726}} +{"accession": {"accession": "VCV000145215", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134617", "version": 3}, "title": "GRCh38/hg38 1q44(chr1:243520743-243531432)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1q44(chr1:243520743-243531432)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 243684045, "innerStop": 243694734, "displayStart": 243684045, "displayStop": 243694734, "variantLength": 10690}, "hgncIds": ["HGNC:393"]} +{"accession": {"accession": "VCV000145236", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134638", "version": 3}, "title": "GRCh38/hg38 15q26.1(chr15:93262301-93346577)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 15q26.1(chr15:93262301-93346577)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_15", "accession": "NC_000015.9", "innerStart": 93805530, "innerStop": 93889806, "displayStart": 93805530, "displayStop": 93889806, "variantLength": 84277}} +{"accession": {"accession": "VCV000145266", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134668", "version": 3}, "title": "GRCh38/hg38 13q21.32(chr13:66753669-66774687)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 13q21.32(chr13:66753669-66774687)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_13", "accession": "NC_000013.10", "innerStart": 67327801, "innerStop": 67348819, "displayStart": 67327801, "displayStop": 67348819, "variantLength": 21019}, "hgncIds": ["HGNC:8661"]} +{"accession": {"accession": "VCV000145217", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134619", "version": 3}, "title": "GRCh38/hg38 8p23.3(chr8:66046-106814)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8p23.3(chr8:66046-106814)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 16046, "innerStop": 56814, "displayStart": 16046, "displayStop": 56814, "variantLength": 40769}} +{"accession": {"accession": "VCV000145219", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134621", "version": 3}, "title": "GRCh38/hg38 15q26.3(chr15:101395679-101452091)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 15q26.3(chr15:101395679-101452091)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_15", "accession": "NC_000015.9", "innerStart": 101935884, "innerStop": 101992296, "displayStart": 101935884, "displayStop": 101992296, "variantLength": 56413}, "hgncIds": ["HGNC:8569"]} +{"accession": {"accession": "VCV000145240", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134642", "version": 3}, "title": "GRCh38/hg38 5q21.2-21.3(chr5:104996709-105137553)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5q21.2-21.3(chr5:104996709-105137553)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 104332410, "innerStop": 104473254, "displayStart": 104332410, "displayStop": 104473254, "variantLength": 140845}} +{"accession": {"accession": "VCV000145270", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134672", "version": 3}, "title": "GRCh38/hg38 Xq28(chrX:155327369-155348480)x4 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:155327369-155348480)x4", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 154556681, "innerStop": 154577793, "displayStart": 154556681, "displayStop": 154577793, "variantLength": 21113}, "hgncIds": ["HGNC:2063"]} +{"accession": {"accession": "VCV000145221", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134623", "version": 3}, "title": "GRCh38/hg38 3q26.1(chr3:164286799-164617339)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3q26.1(chr3:164286799-164617339)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 164004587, "innerStop": 164335127, "displayStart": 164004587, "displayStop": 164335127, "variantLength": 330541}} +{"accession": {"accession": "VCV000145274", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134676", "version": 3}, "title": "GRCh38/hg38 11q21-22.1(chr11:96937589-97402356)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 11q21-22.1(chr11:96937589-97402356)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "innerStart": 96808589, "innerStop": 97273356, "displayStart": 96808589, "displayStop": 97273356, "variantLength": 464768}, "hgncIds": ["HGNC:53588"]} +{"accession": {"accession": "VCV000145225", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134627", "version": 3}, "title": "GRCh38/hg38 21q21.2(chr21:23154277-23250240)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 21q21.2(chr21:23154277-23250240)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_21", "accession": "NC_000021.8", "innerStart": 24526599, "innerStop": 24622562, "displayStart": 24526599, "displayStop": 24622562, "variantLength": 95964}} +{"accession": {"accession": "VCV000145248", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134650", "version": 3}, "title": "GRCh38/hg38 8p22(chr8:14714802-14757672)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8p22(chr8:14714802-14757672)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 14572311, "innerStop": 14615181, "displayStart": 14572311, "displayStop": 14615181, "variantLength": 42871}, "hgncIds": ["HGNC:14075"]} +{"accession": {"accession": "VCV000145278", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134680", "version": 3}, "title": "GRCh38/hg38 8q24.3(chr8:139311194-139387068)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8q24.3(chr8:139311194-139387068)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 140323438, "innerStop": 140399311, "displayStart": 140323438, "displayStop": 140399311, "variantLength": 75874}} +{"accession": {"accession": "VCV000145231", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134633", "version": 3}, "title": "GRCh38/hg38 Xq28(chrX:154154679-154332155)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:154154679-154332155)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 153420154, "innerStop": 153560505, "displayStart": 153420154, "displayStop": 153560505, "variantLength": 140352}, "hgncIds": ["HGNC:9936", "HGNC:4206", "HGNC:26952", "HGNC:51831", "HGNC:2563", "HGNC:11835"]} +{"accession": {"accession": "VCV000145233", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134635", "version": 3}, "title": "GRCh38/hg38 1p21.1(chr1:105517749-105715876)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1p21.1(chr1:105517749-105715876)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 106060371, "innerStop": 106258498, "displayStart": 106060371, "displayStop": 106258498, "variantLength": 198128}, "hgncIds": ["HGNC:52464"]} +{"accession": {"accession": "VCV000145286", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134688", "version": 3}, "title": "GRCh38/hg38 8p23.2-23.1(chr8:6185679-6303909)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8p23.2-23.1(chr8:6185679-6303909)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 6043200, "innerStop": 6161430, "displayStart": 6043200, "displayStop": 6161430, "variantLength": 118231}} +{"accession": {"accession": "VCV000145237", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134639", "version": 3}, "title": "GRCh38/hg38 Xq25(chrX:125968010-126153202)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq25(chrX:125968010-126153202)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 125101992, "innerStop": 125287185, "displayStart": 125101992, "displayStop": 125287185, "variantLength": 185194}} +{"accession": {"accession": "VCV000145239", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134641", "version": 3}, "title": "GRCh38/hg38 Yq11.21(chrY:11901735-12368356)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.21(chrY:11901735-12368356)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 14022441, "innerStop": 14489087, "displayStart": 14022441, "displayStop": 14489087, "variantLength": 466647}} +{"accession": {"accession": "VCV000145260", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134662", "version": 3}, "title": "GRCh38/hg38 14q12(chr14:27754886-27787614)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 14q12(chr14:27754886-27787614)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_14", "accession": "NC_000014.8", "innerStart": 28224092, "innerStop": 28256820, "displayStart": 28224092, "displayStop": 28256820, "variantLength": 32729}} +{"accession": {"accession": "VCV000145298", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134700", "version": 3}, "title": "GRCh38/hg38 5p14.3(chr5:21288685-21377167)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5p14.3(chr5:21288685-21377167)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 21288794, "innerStop": 21377276, "displayStart": 21288794, "displayStop": 21377276, "variantLength": 88483}} +{"accession": {"accession": "VCV000145302", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134704", "version": 3}, "title": "GRCh38/hg38 2p24.3(chr2:14041885-14138712)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p24.3(chr2:14041885-14138712)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 14182010, "innerStop": 14278837, "displayStart": 14182010, "displayStop": 14278837, "variantLength": 96828}} +{"accession": {"accession": "VCV000145268", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134670", "version": 3}, "title": "GRCh38/hg38 5q15(chr5:97716206-97793969)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5q15(chr5:97716206-97793969)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 97051910, "innerStop": 97129673, "displayStart": 97051910, "displayStop": 97129673, "variantLength": 77764}} +{"accession": {"accession": "VCV000145272", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134674", "version": 3}, "title": "GRCh38/hg38 Xq28(chrX:155442674-155492709)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:155442674-155492709)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 154672335, "innerStop": 154722370, "displayStart": 154672335, "displayStop": 154722370, "variantLength": 50036}, "hgncIds": ["HGNC:31850", "HGNC:14455", "HGNC:38389", "HGNC:18308", "HGNC:44261"]} +{"accession": {"accession": "VCV000145276", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134678", "version": 3}, "title": "GRCh38/hg38 16p13.3(chr16:16203-32412)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 16p13.3(chr16:16203-32412)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_16", "accession": "NC_000016.9", "innerStart": 66203, "innerStop": 82412, "displayStart": 66203, "displayStop": 82412, "variantLength": 16210}, "hgncIds": ["HGNC:50840", "HGNC:38609"]} +{"accession": {"accession": "VCV000145267", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134669", "version": 3}, "title": "GRCh38/hg38 Xq25(chrX:128196443-128438818)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq25(chrX:128196443-128438818)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 127330420, "innerStop": 127572796, "displayStart": 127330420, "displayStop": 127572796, "variantLength": 242377}} +{"accession": {"accession": "VCV000145261", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134663", "version": 3}, "title": "GRCh38/hg38 4q35.2(chr4:190022219-190091407)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4q35.2(chr4:190022219-190091407)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 190943374, "innerStop": 191012562, "displayStart": 190943374, "displayStop": 191012562, "variantLength": 69189}, "hgncIds": ["HGNC:43904", "HGNC:19136"]} +{"accession": {"accession": "VCV000145271", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134673", "version": 3}, "title": "GRCh38/hg38 Xq28(chrX:155327369-155348480)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:155327369-155348480)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 154556681, "innerStop": 154577793, "displayStart": 154556681, "displayStop": 154577793, "variantLength": 21113}, "hgncIds": ["HGNC:2063"]} +{"accession": {"accession": "VCV000145275", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134677", "version": 4}, "title": "GRCh38/hg38 16p13.3(chr16:16203-32412)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 16p13.3(chr16:16203-32412)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_16", "accession": "NC_000016.9", "innerStart": 66203, "innerStop": 82412, "displayStart": 66203, "displayStop": 82412, "variantLength": 16210}, "hgncIds": ["HGNC:50840", "HGNC:38609"]} +{"accession": {"accession": "VCV000145288", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134690", "version": 3}, "title": "GRCh38/hg38 3p26.1(chr3:4052583-4189675)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p26.1(chr3:4052583-4189675)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 4094267, "innerStop": 4231359, "displayStart": 4094267, "displayStop": 4231359, "variantLength": 137093}, "hgncIds": ["HGNC:20376"]} +{"accession": {"accession": "VCV000145279", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134681", "version": 3}, "title": "GRCh38/hg38 5p15.2(chr5:12819940-13030492)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5p15.2(chr5:12819940-13030492)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 12820052, "innerStop": 13030604, "displayStart": 12820052, "displayStop": 13030604, "variantLength": 210553}, "hgncIds": ["HGNC:53087"]} +{"accession": {"accession": "VCV000145292", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134694", "version": 3}, "title": "GRCh38/hg38 5q35.3(chr5:181382803-181448620)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5q35.3(chr5:181382803-181448620)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 180809804, "innerStop": 180875621, "displayStart": 180809804, "displayStop": 180875621, "variantLength": 65818}} +{"accession": {"accession": "VCV000145273", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134675", "version": 3}, "title": "GRCh38/hg38 Xq28(chrX:155442674-155492709)x4 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:155442674-155492709)x4", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 154672335, "innerStop": 154722370, "displayStart": 154672335, "displayStop": 154722370, "variantLength": 50036}, "hgncIds": ["HGNC:31850", "HGNC:14455", "HGNC:38389", "HGNC:18308", "HGNC:44261"]} +{"accession": {"accession": "VCV000145287", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134689", "version": 3}, "title": "GRCh38/hg38 4q32.3(chr4:167910776-168056380)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4q32.3(chr4:167910776-168056380)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 168831927, "innerStop": 168977531, "displayStart": 168831927, "displayStop": 168977531, "variantLength": 145605}} +{"accession": {"accession": "VCV000145291", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134693", "version": 3}, "title": "GRCh38/hg38 12q23.1(chr12:99564637-99611495)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 12q23.1(chr12:99564637-99611495)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "innerStart": 99958415, "innerStop": 100005273, "displayStart": 99958415, "displayStop": 100005273, "variantLength": 46859}, "hgncIds": ["HGNC:24600"]} +{"accession": {"accession": "VCV000145289", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134691", "version": 3}, "title": "GRCh38/hg38 8p23.2(chr8:4867646-4891747)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8p23.2(chr8:4867646-4891747)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 4725168, "innerStop": 4749269, "displayStart": 4725168, "displayStop": 4749269, "variantLength": 24102}, "hgncIds": ["HGNC:14026"]} +{"accession": {"accession": "VCV000145295", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134697", "version": 3}, "title": "GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 147962225, "innerStop": 149418924, "displayStart": 147962225, "displayStop": 149418924, "variantLength": 1456700}, "hgncIds": ["HGNC:34918"]} +{"accession": {"accession": "VCV000145293", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134695", "version": 3}, "title": "GRCh38/hg38 19p13.3(chr19:127601-138477)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 19p13.3(chr19:127601-138477)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_19", "accession": "NC_000019.9", "innerStart": 127601, "innerStop": 138477, "displayStart": 127601, "displayStop": 138477, "variantLength": 10877}} +{"accession": {"accession": "VCV000145299", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134701", "version": 3}, "title": "GRCh38/hg38 Yp11.2(chrY:2343433-2443358)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yp11.2(chrY:2343433-2443358)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 2211474, "innerStop": 2311399, "displayStart": 2211474, "displayStop": 2311399, "variantLength": 99926}, "hgncIds": ["HGNC:18399"]} +{"accession": {"accession": "VCV000145297", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134699", "version": 3}, "title": "GRCh38/hg38 20q12(chr20:42596264-42683848)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 20q12(chr20:42596264-42683848)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_20", "accession": "NC_000020.10", "innerStart": 41224904, "innerStop": 41312488, "displayStart": 41224904, "displayStop": 41312488, "variantLength": 87585}, "hgncIds": ["HGNC:9682"]} +{"accession": {"accession": "VCV000145301", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134703", "version": 3}, "title": "GRCh38/hg38 9p23(chr9:11659296-11927681)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p23(chr9:11659296-11927681)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 11659296, "innerStop": 11927681, "displayStart": 11659296, "displayStop": 11927681, "variantLength": 268386}} +{"accession": {"accession": "VCV000145670", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134996", "version": 3}, "title": "GRCh38/hg38 3p26.1(chr3:4149345-4282551)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p26.1(chr3:4149345-4282551)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 4191029, "innerStop": 4324235, "displayStart": 4191029, "displayStop": 4324235, "variantLength": 133207}, "hgncIds": ["HGNC:20376"]} +{"accession": {"accession": "VCV000145682", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135008", "version": 3}, "title": "GRCh38/hg38 8p23.2(chr8:4479463-4557063)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8p23.2(chr8:4479463-4557063)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 4336985, "innerStop": 4414585, "displayStart": 4336985, "displayStop": 4414585, "variantLength": 77601}, "hgncIds": ["HGNC:14026"]} +{"accession": {"accession": "VCV000145690", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135016", "version": 3}, "title": "GRCh38/hg38 2p16.3(chr2:51087233-51240324)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p16.3(chr2:51087233-51240324)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 51314371, "innerStop": 51467462, "displayStart": 51314371, "displayStop": 51467462, "variantLength": 153092}} +{"accession": {"accession": "VCV000145694", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135020", "version": 3}, "title": "GRCh38/hg38 5p14.3(chr5:21351725-21377167)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5p14.3(chr5:21351725-21377167)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 21351834, "innerStop": 21377276, "displayStart": 21351834, "displayStop": 21377276, "variantLength": 25443}} +{"accession": {"accession": "VCV000145702", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135028", "version": 3}, "title": "GRCh38/hg38 4q28.3(chr4:131834333-132170605)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4q28.3(chr4:131834333-132170605)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 132755488, "innerStop": 133091760, "displayStart": 132755488, "displayStop": 133091760, "variantLength": 336273}} +{"accession": {"accession": "VCV000145706", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135032", "version": 3}, "title": "GRCh38/hg38 Xq21.1(chrX:81947241-82059309)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.1(chrX:81947241-82059309)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 81202690, "innerStop": 81314758, "displayStart": 81202690, "displayStop": 81314758, "variantLength": 112069}} +{"accession": {"accession": "VCV000145672", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134998", "version": 4}, "title": "GRCh38/hg38 8q21.11(chr8:72684692-72723399)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8q21.11(chr8:72684692-72723399)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 73596927, "innerStop": 73635634, "displayStart": 73596927, "displayStop": 73635634, "variantLength": 38708}, "hgncIds": ["HGNC:6232"]} +{"accession": {"accession": "VCV000145714", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135040", "version": 3}, "title": "GRCh38/hg38 9q34.3(chr9:138138686-138248277)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9q34.3(chr9:138138686-138248277)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 141033138, "innerStop": 141138727, "displayStart": 141033138, "displayStop": 141138727, "variantLength": 105590}, "hgncIds": ["HGNC:34080"]} +{"accession": {"accession": "VCV000145676", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135002", "version": 3}, "title": "GRCh38/hg38 3p26.3(chr3:1880775-1920995)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p26.3(chr3:1880775-1920995)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 1922459, "innerStop": 1962679, "displayStart": 1922459, "displayStop": 1962679, "variantLength": 40221}} +{"accession": {"accession": "VCV000145680", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135006", "version": 3}, "title": "GRCh38/hg38 4p15.33(chr4:12998655-13069906)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4p15.33(chr4:12998655-13069906)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 13000279, "innerStop": 13071530, "displayStart": 13000279, "displayStop": 13071530, "variantLength": 71252}} +{"accession": {"accession": "VCV000145722", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135048", "version": 3}, "title": "GRCh38/hg38 5q21.1(chr5:99875465-99988993)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5q21.1(chr5:99875465-99988993)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 99211169, "innerStop": 99324697, "displayStart": 99211169, "displayStop": 99324697, "variantLength": 113529}} +{"accession": {"accession": "VCV000145669", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134995", "version": 3}, "title": "GRCh38/hg38 Xq21.31(chrX:87173532-87218675)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.31(chrX:87173532-87218675)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 86428535, "innerStop": 86473678, "displayStart": 86428535, "displayStop": 86473678, "variantLength": 45144}} +{"accession": {"accession": "VCV000145684", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135010", "version": 3}, "title": "GRCh38/hg38 Xq28(chrX:155999253-156010898)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq28(chrX:155999253-156010898)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 155228918, "innerStop": 155240563, "displayStart": 155228918, "displayStop": 155240563, "variantLength": 11646}, "hgncIds": ["HGNC:6030"]} +{"accession": {"accession": "VCV000145726", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135052", "version": 3}, "title": "GRCh38/hg38 Xq25(chrX:127018314-127212010)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq25(chrX:127018314-127212010)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 126152297, "innerStop": 126345993, "displayStart": 126152297, "displayStop": 126345993, "variantLength": 193697}} +{"accession": {"accession": "VCV000145673", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000134999", "version": 3}, "title": "GRCh38/hg38 15q26.1(chr15:93607405-93674817)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 15q26.1(chr15:93607405-93674817)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_15", "accession": "NC_000015.9", "innerStart": 94150634, "innerStop": 94218046, "displayStart": 94150634, "displayStop": 94218046, "variantLength": 67413}} +{"accession": {"accession": "VCV000145688", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135014", "version": 3}, "title": "GRCh38/hg38 14q21.1(chr14:40264666-40421739)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 14q21.1(chr14:40264666-40421739)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_14", "accession": "NC_000014.8", "innerStart": 40733870, "innerStop": 40890943, "displayStart": 40733870, "displayStop": 40890943, "variantLength": 157074}} +{"accession": {"accession": "VCV000145730", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135056", "version": 3}, "title": "GRCh38/hg38 5q23.1(chr5:119693226-119799149)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5q23.1(chr5:119693226-119799149)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 119028921, "innerStop": 119134844, "displayStart": 119028921, "displayStop": 119134844, "variantLength": 105924}} +{"accession": {"accession": "VCV000145675", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135001", "version": 3}, "title": "GRCh38/hg38 14q21.3(chr14:48317570-48422383)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 14q21.3(chr14:48317570-48422383)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_14", "accession": "NC_000014.8", "innerStart": 48786773, "innerStop": 48891586, "displayStart": 48786773, "displayStop": 48891586, "variantLength": 104814}} +{"accession": {"accession": "VCV000145679", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135005", "version": 3}, "title": "GRCh38/hg38 8q21.2(chr8:83820378-84135153)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8q21.2(chr8:83820378-84135153)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 84732613, "innerStop": 85047388, "displayStart": 84732613, "displayStop": 85047388, "variantLength": 314776}} +{"accession": {"accession": "VCV000145681", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135007", "version": 3}, "title": "GRCh38/hg38 5p12(chr5:45935267-46055335)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5p12(chr5:45935267-46055335)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 45935369, "innerStop": 46055437, "displayStart": 45935369, "displayStop": 46055437, "variantLength": 120069}} +{"accession": {"accession": "VCV000145696", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135022", "version": 3}, "title": "GRCh38/hg38 9p21.2(chr9:26274520-26405994)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p21.2(chr9:26274520-26405994)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 26274518, "innerStop": 26405992, "displayStart": 26274518, "displayStop": 26405992, "variantLength": 131475}} +{"accession": {"accession": "VCV000145683", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135009", "version": 3}, "title": "GRCh38/hg38 1p12(chr1:120026791-120092791)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1p12(chr1:120026791-120092791)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 120569414, "innerStop": 120635392, "displayStart": 120569414, "displayStop": 120635392, "variantLength": 65979}, "hgncIds": ["HGNC:7882"]} +{"accession": {"accession": "VCV000145685", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135011", "version": 3}, "title": "GRCh38/hg38 Yq12(chrY:57185773-57197418)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq12(chrY:57185773-57197418)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 59331924, "innerStop": 59343569, "displayStart": 59331924, "displayStop": 59343569, "variantLength": 11646}, "hgncIds": ["HGNC:6030"]} +{"accession": {"accession": "VCV000145687", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135013", "version": 3}, "title": "GRCh38/hg38 4q35.2(chr4:189158084-189238295)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4q35.2(chr4:189158084-189238295)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 190079238, "innerStop": 190159449, "displayStart": 190079238, "displayStop": 190159449, "variantLength": 80212}} +{"accession": {"accession": "VCV000145746", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135072", "version": 3}, "title": "GRCh38/hg38 1q44(chr1:248128267-248176638)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1q44(chr1:248128267-248176638)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 248291569, "innerStop": 248339940, "displayStart": 248291569, "displayStop": 248339940, "variantLength": 48372}, "hgncIds": ["HGNC:8268", "HGNC:19576"]} +{"accession": {"accession": "VCV000145704", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135030", "version": 3}, "title": "GRCh38/hg38 15q24.3(chr15:77430520-77444701)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 15q24.3(chr15:77430520-77444701)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_15", "accession": "NC_000015.9", "innerStart": 77722862, "innerStop": 77737043, "displayStart": 77722862, "displayStop": 77737043, "variantLength": 14182}, "hgncIds": ["HGNC:5001"]} +{"accession": {"accession": "VCV000145693", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135019", "version": 3}, "title": "GRCh38/hg38 4q26(chr4:115992538-116176261)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4q26(chr4:115992538-116176261)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 116913694, "innerStop": 117097417, "displayStart": 116913694, "displayStop": 117097417, "variantLength": 183724}} +{"accession": {"accession": "VCV000145750", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135076", "version": 3}, "title": "GRCh38/hg38 Xq25(chrX:127416540-127573485)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq25(chrX:127416540-127573485)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 126550521, "innerStop": 126707466, "displayStart": 126550521, "displayStop": 126707466, "variantLength": 156946}} +{"accession": {"accession": "VCV000145708", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135034", "version": 3}, "title": "GRCh38/hg38 Xq21.1(chrX:81947241-82059309)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.1(chrX:81947241-82059309)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 81202690, "innerStop": 81314758, "displayStart": 81202690, "displayStop": 81314758, "variantLength": 112069}} +{"accession": {"accession": "VCV000145697", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135023", "version": 3}, "title": "GRCh38/hg38 9q34.3(chr9:138179401-138231605)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9q34.3(chr9:138179401-138231605)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 141073853, "innerStop": 141122055, "displayStart": 141073853, "displayStop": 141122055, "variantLength": 48203}, "hgncIds": ["HGNC:34080"]} +{"accession": {"accession": "VCV000145712", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135038", "version": 3}, "title": "GRCh38/hg38 19p12(chr19:20274508-20374052)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 19p12(chr19:20274508-20374052)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_19", "accession": "NC_000019.9", "innerStart": 20385317, "innerStop": 20484861, "displayStart": 20385317, "displayStop": 20484861, "variantLength": 99545}, "hgncIds": ["HGNC:41525"]} +{"accession": {"accession": "VCV000145699", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135025", "version": 3}, "title": "GRCh38/hg38 Xp22.33(chrX:2200415-2371604)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.33(chrX:2200415-2371604)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 2118389, "innerStop": 2289645, "displayStart": 2118389, "displayStop": 2289645, "variantLength": 171257}, "hgncIds": ["HGNC:18399"]} +{"accession": {"accession": "VCV000145758", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135084", "version": 3}, "title": "GRCh38/hg38 Xq21.1(chrX:84775973-84877015)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.1(chrX:84775973-84877015)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 84030980, "innerStop": 84132021, "displayStart": 84030980, "displayStop": 84132021, "variantLength": 101042}} +{"accession": {"accession": "VCV000145705", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135031", "version": 3}, "title": "GRCh38/hg38 9p23(chr9:11573531-11713632)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p23(chr9:11573531-11713632)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 11573531, "innerStop": 11713632, "displayStart": 11573531, "displayStop": 11713632, "variantLength": 140102}} +{"accession": {"accession": "VCV000145762", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135088", "version": 3}, "title": "GRCh38/hg38 12q14.1(chr12:59973621-60061113)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 12q14.1(chr12:59973621-60061113)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "innerStart": 60367402, "innerStop": 60454894, "displayStart": 60367402, "displayStop": 60454894, "variantLength": 87493}} +{"accession": {"accession": "VCV000145720", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135046", "version": 3}, "title": "GRCh38/hg38 16p13.3(chr16:22569-32612)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 16p13.3(chr16:22569-32612)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_16", "accession": "NC_000016.9", "innerStart": 72569, "innerStop": 82612, "displayStart": 72569, "displayStop": 82612, "variantLength": 10044}, "hgncIds": ["HGNC:38609"]} +{"accession": {"accession": "VCV000145709", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135035", "version": 3}, "title": "GRCh38/hg38 Xp22.33(chrX:392358-426983)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.33(chrX:392358-426983)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 353093, "innerStop": 387718, "displayStart": 353093, "displayStop": 387718, "variantLength": 34626}} +{"accession": {"accession": "VCV000145724", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135050", "version": 3}, "title": "GRCh38/hg38 8p23.3(chr8:90247-106814)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8p23.3(chr8:90247-106814)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 40247, "innerStop": 56814, "displayStart": 40247, "displayStop": 56814, "variantLength": 16568}} +{"accession": {"accession": "VCV000145711", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135037", "version": 3}, "title": "GRCh38/hg38 3q29(chr3:198136564-198219662)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3q29(chr3:198136564-198219662)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 197863435, "innerStop": 197946533, "displayStart": 197863435, "displayStop": 197946533, "variantLength": 83099}, "hgncIds": ["HGNC:34079"]} +{"accession": {"accession": "VCV000145713", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135039", "version": 3}, "title": "GRCh38/hg38 5q35.3(chr5:181297242-181324872)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5q35.3(chr5:181297242-181324872)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 180724243, "innerStop": 180751873, "displayStart": 180724243, "displayStop": 180751873, "variantLength": 27631}} +{"accession": {"accession": "VCV000145774", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135100", "version": 3}, "title": "GRCh38/hg38 Xp22.33(chrX:1674587-1823312)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.33(chrX:1674587-1823312)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 1793480, "innerStop": 1942205, "displayStart": 1793480, "displayStop": 1942205, "variantLength": 148726}} +{"accession": {"accession": "VCV000145732", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135058", "version": 3}, "title": "GRCh38/hg38 3q29(chr3:198094867-198168298)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3q29(chr3:198094867-198168298)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 197821738, "innerStop": 197895169, "displayStart": 197821738, "displayStop": 197895169, "variantLength": 73432}, "hgncIds": ["HGNC:34079"]} +{"accession": {"accession": "VCV000145719", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135045", "version": 3}, "title": "GRCh38/hg38 5q21.3(chr5:106443466-106530076)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5q21.3(chr5:106443466-106530076)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 105779167, "innerStop": 105865777, "displayStart": 105779167, "displayStop": 105865777, "variantLength": 86611}} +{"accession": {"accession": "VCV000145736", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135062", "version": 3}, "title": "GRCh38/hg38 Yq11.222(chrY:18782131-18855730)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.222(chrY:18782131-18855730)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 20944017, "innerStop": 21017616, "displayStart": 20944017, "displayStop": 21017616, "variantLength": 73600}, "hgncIds": ["HGNC:23950"]} +{"accession": {"accession": "VCV000145723", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135049", "version": 3}, "title": "GRCh38/hg38 5q35.3(chr5:181425760-181448620)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5q35.3(chr5:181425760-181448620)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 180852761, "innerStop": 180875621, "displayStart": 180852761, "displayStop": 180875621, "variantLength": 22861}} +{"accession": {"accession": "VCV000145727", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135053", "version": 3}, "title": "GRCh38/hg38 7q36.2(chr7:154125945-154207385)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7q36.2(chr7:154125945-154207385)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 153823030, "innerStop": 153904470, "displayStart": 153823030, "displayStop": 153904470, "variantLength": 81441}, "hgncIds": ["HGNC:3010"]} +{"accession": {"accession": "VCV000145744", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135070", "version": 3}, "title": "GRCh38/hg38 1q44(chr1:248128267-248176638)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1q44(chr1:248128267-248176638)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 248291569, "innerStop": 248339940, "displayStart": 248291569, "displayStop": 248339940, "variantLength": 48372}, "hgncIds": ["HGNC:8268", "HGNC:19576"]} +{"accession": {"accession": "VCV000145731", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135057", "version": 3}, "title": "GRCh38/hg38 Xq21.33(chrX:96474424-96590435)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.33(chrX:96474424-96590435)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 95729423, "innerStop": 95845434, "displayStart": 95729423, "displayStop": 95845434, "variantLength": 116012}} +{"accession": {"accession": "VCV000145790", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135116", "version": 3}, "title": "GRCh38/hg38 16q23.1(chr16:78624328-78711823)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 16q23.1(chr16:78624328-78711823)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_16", "accession": "NC_000016.9", "innerStart": 78658225, "innerStop": 78745720, "displayStart": 78658225, "displayStop": 78745720, "variantLength": 87496}, "hgncIds": ["HGNC:12799"]} +{"accession": {"accession": "VCV000145735", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135061", "version": 3}, "title": "GRCh38/hg38 Yq11.222(chrY:18464608-18538217)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.222(chrY:18464608-18538217)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 20626494, "innerStop": 20700103, "displayStart": 20626494, "displayStop": 20700103, "variantLength": 73610}, "hgncIds": ["HGNC:18568"]} +{"accession": {"accession": "VCV000145737", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135063", "version": 3}, "title": "GRCh38/hg38 Yq11.221(chrY:16162825-16443680)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.221(chrY:16162825-16443680)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 18274705, "innerStop": 18555560, "displayStart": 18274705, "displayStop": 18555560, "variantLength": 280856}} +{"accession": {"accession": "VCV000145794", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135120", "version": 4}, "title": "GRCh38/hg38 1q44(chr1:247995637-248042653)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1q44(chr1:247995637-248042653)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 248158939, "innerStop": 248205955, "displayStart": 248158939, "displayStop": 248205955, "variantLength": 47017}, "hgncIds": ["HGNC:19578", "HGNC:8266", "HGNC:15011"]} +{"accession": {"accession": "VCV000145741", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135067", "version": 3}, "title": "GRCh38/hg38 3p26.3(chr3:1755760-1984526)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p26.3(chr3:1755760-1984526)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 1797444, "innerStop": 2026210, "displayStart": 1797444, "displayStop": 2026210, "variantLength": 228767}} +{"accession": {"accession": "VCV000145798", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135124", "version": 3}, "title": "GRCh37/hg19 10p12.33(chr10:17809523-18273895)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 10p12.33(chr10:17809523-18273895)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"forDisplay": true, "assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 17809523, "innerStop": 18273895, "displayStart": 17809523, "displayStop": 18273895, "variantLength": 464373}, "hgncIds": ["HGNC:20860"]} +{"accession": {"accession": "VCV000145756", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135082", "version": 3}, "title": "GRCh37/hg19 1q21.1(chr1:143428345-143532171)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 1q21.1(chr1:143428345-143532171)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 143428345, "innerStop": 143532171, "displayStart": 143428345, "displayStop": 143532171, "variantLength": 103827}} +{"accession": {"accession": "VCV000145745", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135071", "version": 3}, "title": "GRCh38/hg38 11q12.1(chr11:55973062-56053540)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 11q12.1(chr11:55973062-56053540)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "innerStart": 55740538, "innerStop": 55821016, "displayStart": 55740538, "displayStop": 55821016, "variantLength": 80479}, "hgncIds": ["HGNC:15261", "HGNC:8343"]} +{"accession": {"accession": "VCV000145802", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135128", "version": 3}, "title": "GRCh38/hg38 Xp22.33(chrX:1123219-1202712)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.33(chrX:1123219-1202712)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 1223372, "innerStop": 1321581, "displayStart": 1223372, "displayStop": 1321581, "variantLength": 98210}, "hgncIds": ["HGNC:14281"]} +{"accession": {"accession": "VCV000145747", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135073", "version": 3}, "title": "GRCh38/hg38 11q12.1(chr11:55973062-56053540)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 11q12.1(chr11:55973062-56053540)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_11", "accession": "NC_000011.9", "innerStart": 55740538, "innerStop": 55821016, "displayStart": 55740538, "displayStop": 55821016, "variantLength": 80479}, "hgncIds": ["HGNC:15261", "HGNC:8343"]} +{"accession": {"accession": "VCV000145749", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135075", "version": 3}, "title": "GRCh38/hg38 7p12.1(chr7:52227381-52512934)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7p12.1(chr7:52227381-52512934)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 52295077, "innerStop": 52580630, "displayStart": 52295077, "displayStop": 52580630, "variantLength": 285554}} +{"accession": {"accession": "VCV000145764", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135090", "version": 3}, "title": "GRCh38/hg38 Xq23(chrX:113585463-113959540)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq23(chrX:113585463-113959540)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 112828750, "innerStop": 113202825, "displayStart": 112828750, "displayStop": 113202825, "variantLength": 374076}, "hgncIds": ["HGNC:45056"]} +{"accession": {"accession": "VCV000145753", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135079", "version": 3}, "title": "GRCh38/hg38 8p23.2(chr8:4132365-4211848)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8p23.2(chr8:4132365-4211848)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 3989887, "innerStop": 4069370, "displayStart": 3989887, "displayStop": 4069370, "variantLength": 79484}, "hgncIds": ["HGNC:14026"]} +{"accession": {"accession": "VCV000145768", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135094", "version": 4}, "title": "GRCh38/hg38 Xq26.3(chrX:135159111-135196179)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq26.3(chrX:135159111-135196179)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 134293036, "innerStop": 134330110, "displayStart": 134293036, "displayStop": 134330110, "variantLength": 37075}, "hgncIds": ["HGNC:26047"]} +{"accession": {"accession": "VCV000145755", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135081", "version": 3}, "title": "GRCh38/hg38 Xp21.1(chrX:33577064-34060608)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp21.1(chrX:33577064-34060608)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 33595181, "innerStop": 34078725, "displayStart": 33595181, "displayStop": 34078725, "variantLength": 483545}} +{"accession": {"accession": "VCV000145757", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135083", "version": 3}, "title": "GRCh38/hg38 3p26.3(chr3:684961-758641)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p26.3(chr3:684961-758641)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 726645, "innerStop": 800324, "displayStart": 726645, "displayStop": 800324, "variantLength": 73680}, "hgncIds": ["HGNC:50309"]} +{"accession": {"accession": "VCV000145772", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135098", "version": 3}, "title": "GRCh38/hg38 15q13.3(chr15:31823548-31856744)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 15q13.3(chr15:31823548-31856744)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_15", "accession": "NC_000015.9", "innerStart": 32115751, "innerStop": 32148947, "displayStart": 32115751, "displayStop": 32148947, "variantLength": 33197}, "hgncIds": ["HGNC:20718"]} +{"accession": {"accession": "VCV000145759", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135085", "version": 3}, "title": "GRCh38/hg38 2p11.2(chr2:88838079-89030495)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p11.2(chr2:88838079-89030495)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 89137592, "innerStop": 89329992, "displayStart": 89137592, "displayStop": 89329992, "variantLength": 192401}, "hgncIds": ["HGNC:5715", "HGNC:5716", "HGNC:5719", "HGNC:5720", "HGNC:5721", "HGNC:5722", "HGNC:5723", "HGNC:5741", "HGNC:5742", "HGNC:5743", "HGNC:5744", "HGNC:5815", "HGNC:5821", "HGNC:5834", "HGNC:5835"]} +{"accession": {"accession": "VCV000145761", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135087", "version": 3}, "title": "GRCh38/hg38 Xq25(chrX:125673312-125741448)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq25(chrX:125673312-125741448)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 124807304, "innerStop": 124875430, "displayStart": 124807304, "displayStop": 124875430, "variantLength": 68127}} +{"accession": {"accession": "VCV000145776", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135102", "version": 3}, "title": "GRCh38/hg38 Xp22.33(chrX:610551-629902)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.33(chrX:610551-629902)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 571286, "innerStop": 590637, "displayStart": 571286, "displayStop": 590637, "variantLength": 19352}, "hgncIds": ["HGNC:10853"]} +{"accession": {"accession": "VCV000145784", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135110", "version": 3}, "title": "GRCh38/hg38 15q26.3(chr15:98010889-98142484)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 15q26.3(chr15:98010889-98142484)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_15", "accession": "NC_000015.9", "innerStart": 98554119, "innerStop": 98685713, "displayStart": 98554119, "displayStop": 98685713, "variantLength": 131595}, "hgncIds": ["HGNC:51416", "HGNC:53149"]} +{"accession": {"accession": "VCV000145834", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135160", "version": 3}, "title": "GRCh38/hg38 Xq27.3(chrX:145260580-145397053)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq27.3(chrX:145260580-145397053)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 144342100, "innerStop": 144478571, "displayStart": 144342100, "displayStop": 144478571, "variantLength": 136472}} +{"accession": {"accession": "VCV000145792", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135118", "version": 4}, "title": "GRCh38/hg38 2q37.3(chr2:240976892-240979817)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2q37.3(chr2:240976892-240979817)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign/Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 241916309, "innerStop": 241919234, "displayStart": 241916309, "displayStop": 241919234, "variantLength": 2926}, "hgncIds": ["HGNC:51677"]} +{"accession": {"accession": "VCV000145771", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135097", "version": 3}, "title": "GRCh38/hg38 13q21.1(chr13:57219220-57298363)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 13q21.1(chr13:57219220-57298363)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_13", "accession": "NC_000013.10", "innerStart": 57793354, "innerStop": 57872497, "displayStart": 57793354, "displayStop": 57872497, "variantLength": 79144}} +{"accession": {"accession": "VCV000145785", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135111", "version": 3}, "title": "GRCh38/hg38 2q21.1(chr2:131310498-131508954)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2q21.1(chr2:131310498-131508954)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 132068071, "innerStop": 132266527, "displayStart": 132068071, "displayStop": 132266527, "variantLength": 198457}, "hgncIds": ["HGNC:49265", "HGNC:41580", "HGNC:33187", "HGNC:30272", "HGNC:24071"]} +{"accession": {"accession": "VCV000145775", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135101", "version": 3}, "title": "GRCh38/hg38 Yp11.2(chrY:1674587-1823312)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yp11.2(chrY:1674587-1823312)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 1743480, "innerStop": 1892205, "displayStart": 1743480, "displayStop": 1892205, "variantLength": 148726}} +{"accession": {"accession": "VCV000145800", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135126", "version": 3}, "title": "GRCh38/hg38 Yq11.221(chrY:13879546-14054658)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yq11.221(chrY:13879546-14054658)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 15991426, "innerStop": 16166538, "displayStart": 15991426, "displayStop": 16166538, "variantLength": 175113}, "hgncIds": ["HGNC:12668"]} +{"accession": {"accession": "VCV000145789", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135115", "version": 3}, "title": "GRCh38/hg38 9q34.3(chr9:138167115-138248277)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9q34.3(chr9:138167115-138248277)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 141061567, "innerStop": 141138727, "displayStart": 141061567, "displayStop": 141138727, "variantLength": 77161}, "hgncIds": ["HGNC:34080"]} +{"accession": {"accession": "VCV000145779", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135105", "version": 3}, "title": "GRCh38/hg38 2p11.2(chr2:89200535-89228087)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 2p11.2(chr2:89200535-89228087)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_2", "accession": "NC_000002.11", "innerStart": 89500023, "innerStop": 89527568, "displayStart": 89500023, "displayStop": 89527568, "variantLength": 27546}, "hgncIds": ["HGNC:5715", "HGNC:5735", "HGNC:5783"]} +{"accession": {"accession": "VCV000145804", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135130", "version": 3}, "title": "GRCh38/hg38 6q26(chr6:162233059-162327256)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6q26(chr6:162233059-162327256)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 162654091, "innerStop": 162748288, "displayStart": 162654091, "displayStop": 162748288, "variantLength": 94198}, "hgncIds": ["HGNC:8607"]} +{"accession": {"accession": "VCV000145808", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135134", "version": 3}, "title": "GRCh38/hg38 Xp22.33(chrX:1947725-2248818)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.33(chrX:1947725-2248818)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 2066618, "innerStop": 2166859, "displayStart": 2066618, "displayStop": 2166859, "variantLength": 100242}, "hgncIds": ["HGNC:18399"]} +{"accession": {"accession": "VCV000145801", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135127", "version": 3}, "title": "GRCh38/hg38 18p11.32(chr18:1664566-1783662)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 18p11.32(chr18:1664566-1783662)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_18", "accession": "NC_000018.9", "innerStart": 1664567, "innerStop": 1783663, "displayStart": 1664567, "displayStop": 1783663, "variantLength": 119097}} +{"accession": {"accession": "VCV000145791", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135117", "version": 3}, "title": "GRCh38/hg38 1q41-42.11(chr1:223891383-223992662)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1q41-42.11(chr1:223891383-223992662)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 224079085, "innerStop": 224180364, "displayStart": 224079085, "displayStop": 224180364, "variantLength": 101280}} +{"accession": {"accession": "VCV000145862", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135188", "version": 3}, "title": "GRCh38/hg38 9p22.3(chr9:15310273-15378137)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p22.3(chr9:15310273-15378137)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 15310271, "innerStop": 15378135, "displayStart": 15310271, "displayStop": 15378135, "variantLength": 67865}} +{"accession": {"accession": "VCV000145809", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135135", "version": 3}, "title": "GRCh38/hg38 7q31.1(chr7:112092584-112144255)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7q31.1(chr7:112092584-112144255)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 111732639, "innerStop": 111784310, "displayStart": 111732639, "displayStop": 111784310, "variantLength": 51672}, "hgncIds": ["HGNC:19192"]} +{"accession": {"accession": "VCV000145866", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135192", "version": 3}, "title": "GRCh38/hg38 12p12.3(chr12:16041251-16120196)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 12p12.3(chr12:16041251-16120196)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "innerStart": 16194185, "innerStop": 16273130, "displayStart": 16194185, "displayStop": 16273130, "variantLength": 78946}} +{"accession": {"accession": "VCV000145795", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135121", "version": 3}, "title": "GRCh38/hg38 Xq21.33(chrX:95499982-95801651)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq21.33(chrX:95499982-95801651)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 94754981, "innerStop": 95056650, "displayStart": 94754981, "displayStop": 95056650, "variantLength": 301670}} +{"accession": {"accession": "VCV000145870", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135196", "version": 3}, "title": "GRCh38/hg38 10q21.3(chr10:66562861-66684077)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 10q21.3(chr10:66562861-66684077)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 68322619, "innerStop": 68443835, "displayStart": 68322619, "displayStop": 68443835, "variantLength": 121217}, "hgncIds": ["HGNC:2511"]} +{"accession": {"accession": "VCV000145799", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135125", "version": 3}, "title": "GRCh38/hg38 Yp11.32(chrY:20297-233335)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yp11.32(chrY:20297-233335)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 20297, "innerStop": 100002, "displayStart": 20297, "displayStop": 100002, "variantLength": 79706}} +{"accession": {"accession": "VCV000145817", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135143", "version": 3}, "title": "GRCh38/hg38 14q21.1(chr14:41378491-41593828)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 14q21.1(chr14:41378491-41593828)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_14", "accession": "NC_000014.8", "innerStart": 41847694, "innerStop": 42063031, "displayStart": 41847694, "displayStop": 42063031, "variantLength": 215338}} +{"accession": {"accession": "VCV000145824", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135150", "version": 3}, "title": "GRCh38/hg38 Xp22.33(chrX:1055101-1420616)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.33(chrX:1055101-1420616)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 1015836, "innerStop": 1539509, "displayStart": 1015836, "displayStop": 1539509, "variantLength": 523674}, "hgncIds": ["HGNC:751", "HGNC:25811", "HGNC:14281", "HGNC:2435", "HGNC:6012", "HGNC:31843", "HGNC:38967", "HGNC:10992"]} +{"accession": {"accession": "VCV000145803", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135129", "version": 3}, "title": "GRCh38/hg38 Yp11.2(chrY:1123219-1202712)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yp11.2(chrY:1123219-1202712)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 1173372, "innerStop": 1271581, "displayStart": 1173372, "displayStop": 1271581, "variantLength": 98210}, "hgncIds": ["HGNC:14281"]} +{"accession": {"accession": "VCV000145825", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135151", "version": 3}, "title": "GRCh38/hg38 Yp11.2(chrY:1055101-1420616)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Yp11.2(chrY:1055101-1420616)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_Y", "accession": "NC_000024.9", "innerStart": 965836, "innerStop": 1489509, "displayStart": 965836, "displayStop": 1489509, "variantLength": 523674}, "hgncIds": ["HGNC:751", "HGNC:25811", "HGNC:14281", "HGNC:2435", "HGNC:6012", "HGNC:31843", "HGNC:38967", "HGNC:10992"]} +{"accession": {"accession": "VCV000145844", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135170", "version": 3}, "title": "GRCh38/hg38 12q24.33(chr12:132562876-132588256)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 12q24.33(chr12:132562876-132588256)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_12", "accession": "NC_000012.11", "innerStart": 133139462, "innerStop": 133164842, "displayStart": 133139462, "displayStop": 133164842, "variantLength": 25381}, "hgncIds": ["HGNC:29308", "HGNC:50139"]} +{"accession": {"accession": "VCV000145894", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135220", "version": 3}, "title": "GRCh38/hg38 Xp22.33(chrX:1691430-2443358)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.33(chrX:1691430-2443358)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 1810323, "innerStop": 2361399, "displayStart": 1810323, "displayStop": 2361399, "variantLength": 551077}, "hgncIds": ["HGNC:18399"]} +{"accession": {"accession": "VCV000145841", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135167", "version": 3}, "title": "GRCh38/hg38 4q22.1(chr4:92535045-92633791)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 4q22.1(chr4:92535045-92633791)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_4", "accession": "NC_000004.11", "innerStart": 93456196, "innerStop": 93554942, "displayStart": 93456196, "displayStop": 93554942, "variantLength": 98747}, "hgncIds": ["HGNC:4576"]} +{"accession": {"accession": "VCV000145848", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135174", "version": 3}, "title": "GRCh38/hg38 13q21.32(chr13:66733239-66832341)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 13q21.32(chr13:66733239-66832341)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_13", "accession": "NC_000013.10", "innerStart": 67307371, "innerStop": 67406473, "displayStart": 67307371, "displayStop": 67406473, "variantLength": 99103}, "hgncIds": ["HGNC:8661", "HGNC:39896"]} +{"accession": {"accession": "VCV000145845", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135171", "version": 3}, "title": "GRCh38/hg38 8q24.11(chr8:118190541-118231528)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8q24.11(chr8:118190541-118231528)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 119202780, "innerStop": 119243767, "displayStart": 119202780, "displayStop": 119243767, "variantLength": 40988}, "hgncIds": ["HGNC:31750"]} +{"accession": {"accession": "VCV000145852", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135178", "version": 3}, "title": "GRCh38/hg38 19p13.12(chr19:15631691-15692480)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 19p13.12(chr19:15631691-15692480)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2011-04-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_19", "accession": "NC_000019.9", "innerStart": 15742501, "innerStop": 15803290, "displayStart": 15742501, "displayStop": 15803290, "variantLength": 60790}, "hgncIds": ["HGNC:18857", "HGNC:2646"]} +{"accession": {"accession": "VCV000145902", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135228", "version": 3}, "title": "GRCh38/hg38 Xq13.3(chrX:75201035-75243922)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq13.3(chrX:75201035-75243922)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 74420870, "innerStop": 74463757, "displayStart": 74420870, "displayStop": 74463757, "variantLength": 42888}, "hgncIds": ["HGNC:28334"]} +{"accession": {"accession": "VCV000145910", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135236", "version": 3}, "title": "GRCh38/hg38 Xq13.2(chrX:73008114-73093602)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq13.2(chrX:73008114-73093602)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 72227953, "innerStop": 72313441, "displayStart": 72227953, "displayStop": 72313441, "variantLength": 85489}, "hgncIds": ["HGNC:27989"]} +{"accession": {"accession": "VCV000145827", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135153", "version": 3}, "title": "GRCh38/hg38 Xp22.33(chrX:1202712-1228390)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp22.33(chrX:1202712-1228390)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 1321581, "innerStop": 1347283, "displayStart": 1321581, "displayStop": 1347283, "variantLength": 25703}, "hgncIds": ["HGNC:14281"]} +{"accession": {"accession": "VCV000145868", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135194", "version": 3}, "title": "GRCh38/hg38 13q21.32(chr13:66641542-66825751)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 13q21.32(chr13:66641542-66825751)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_13", "accession": "NC_000013.10", "innerStart": 67215674, "innerStop": 67399883, "displayStart": 67215674, "displayStop": 67399883, "variantLength": 184210}, "hgncIds": ["HGNC:8661", "HGNC:39896"]} +{"accession": {"accession": "VCV000145918", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135244", "version": 3}, "title": "GRCh38/hg38 Xp21.1(chrX:37379580-37660460)x2 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xp21.1(chrX:37379580-37660460)x2", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 37238833, "innerStop": 37519713, "displayStart": 37238833, "displayStop": 37519713, "variantLength": 280881}, "hgncIds": ["HGNC:24767", "HGNC:9469"]} +{"accession": {"accession": "VCV000145835", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135161", "version": 3}, "title": "GRCh38/hg38 Xq27.3(chrX:145260580-145397053)x0 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 Xq27.3(chrX:145260580-145397053)x0", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_X", "accession": "NC_000023.10", "innerStart": 144342100, "innerStop": 144478571, "displayStart": 144342100, "displayStop": 144478571, "variantLength": 136472}} +{"accession": {"accession": "VCV000145865", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135191", "version": 3}, "title": "GRCh37/hg19 1q21.1(chr1:143753740-143984287)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh37/hg19 1q21.1(chr1:143753740-143984287)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-10T00:00:00Z", "mostRecentSubmission": "2015-07-10T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"forDisplay": true, "assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 143753740, "innerStop": 143984287, "displayStart": 143753740, "displayStop": 143984287, "variantLength": 230548}, "hgncIds": ["HGNC:33593", "HGNC:33996", "HGNC:35237"]} +{"accession": {"accession": "VCV000145839", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135165", "version": 3}, "title": "GRCh38/hg38 9q34.12(chr9:130600160-130655199)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9q34.12(chr9:130600160-130655199)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 133475547, "innerStop": 133530586, "displayStart": 133475547, "displayStop": 133530586, "variantLength": 55040}, "hgncIds": ["HGNC:4005", "HGNC:50242"]} +{"accession": {"accession": "VCV000145926", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135252", "version": 3}, "title": "GRCh38/hg38 9p24.1(chr9:5352284-5426040)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p24.1(chr9:5352284-5426040)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 5352284, "innerStop": 5426040, "displayStart": 5352284, "displayStop": 5426040, "variantLength": 73757}, "hgncIds": ["HGNC:23633"]} +{"accession": {"accession": "VCV000145930", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135256", "version": 3}, "title": "GRCh38/hg38 21q21.3(chr21:27839757-27986029)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 21q21.3(chr21:27839757-27986029)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_21", "accession": "NC_000021.8", "innerStart": 29212076, "innerStop": 29358348, "displayStart": 29212076, "displayStop": 29358348, "variantLength": 146273}} +{"accession": {"accession": "VCV000145847", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135173", "version": 3}, "title": "GRCh38/hg38 22q11.23(chr22:23859833-23930947)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 22q11.23(chr22:23859833-23930947)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_22", "accession": "NC_000022.10", "innerStart": 24202020, "innerStop": 24273134, "displayStart": 24202020, "displayStop": 24273134, "variantLength": 71115}, "hgncIds": ["HGNC:7097", "HGNC:27669", "HGNC:14239"]} +{"accession": {"accession": "VCV000145880", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135206", "version": 3}, "title": "GRCh38/hg38 3p12.3(chr3:75721211-75742414)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 3p12.3(chr3:75721211-75742414)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_3", "accession": "NC_000003.11", "innerStart": 75770362, "innerStop": 75791565, "displayStart": 75770362, "displayStop": 75791565, "variantLength": 21204}, "hgncIds": ["HGNC:38339", "HGNC:29448"]} +{"accession": {"accession": "VCV000145855", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135181", "version": 3}, "title": "GRCh38/hg38 10q23.33(chr10:94647983-94760469)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 10q23.33(chr10:94647983-94760469)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_10", "accession": "NC_000010.10", "innerStart": 96407740, "innerStop": 96520226, "displayStart": 96407740, "displayStop": 96520226, "variantLength": 112487}, "hgncIds": ["HGNC:2620"]} +{"accession": {"accession": "VCV000145888", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135214", "version": 3}, "title": "GRCh38/hg38 7p21.3(chr7:8636370-8767696)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 7p21.3(chr7:8636370-8767696)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_7", "accession": "NC_000007.13", "innerStart": 8676000, "innerStop": 8807326, "displayStart": 8676000, "displayStop": 8807326, "variantLength": 131327}, "hgncIds": ["HGNC:20693"]} +{"accession": {"accession": "VCV000145892", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135218", "version": 3}, "title": "GRCh38/hg38 1p33(chr1:49662713-49727771)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 1p33(chr1:49662713-49727771)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_1", "accession": "NC_000001.10", "innerStart": 50128385, "innerStop": 50193443, "displayStart": 50128385, "displayStop": 50193443, "variantLength": 65059}, "hgncIds": ["HGNC:25892"]} +{"accession": {"accession": "VCV000145946", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135272", "version": 3}, "title": "GRCh38/hg38 5p15.2(chr5:12819940-13227589)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 5p15.2(chr5:12819940-13227589)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_5", "accession": "NC_000005.9", "innerStart": 12820052, "innerStop": 13227701, "displayStart": 12820052, "displayStop": 13227701, "variantLength": 407650}, "hgncIds": ["HGNC:53087"]} +{"accession": {"accession": "VCV000145889", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135215", "version": 3}, "title": "GRCh38/hg38 22q11.21(chr22:18907322-19022936)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 22q11.21(chr22:18907322-19022936)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_22", "accession": "NC_000022.10", "innerStart": 18894835, "innerStop": 19010449, "displayStart": 18894835, "displayStop": 19010449, "variantLength": 115615}, "hgncIds": ["HGNC:17864", "HGNC:16757", "HGNC:2846", "HGNC:17227", "HGNC:9453"]} +{"accession": {"accession": "VCV000145893", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135219", "version": 3}, "title": "GRCh38/hg38 6q25.3(chr6:157523929-157547682)x3 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 6q25.3(chr6:157523929-157547682)x3", "variationType": "VARIATION_TYPE_COPY_NUMBER_GAIN", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_6", "accession": "NC_000006.11", "innerStart": 157944961, "innerStop": 157968714, "displayStart": 157944961, "displayStop": 157968714, "variantLength": 23754}, "hgncIds": ["HGNC:38885", "HGNC:20341"]} +{"accession": {"accession": "VCV000145954", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135280", "version": 3}, "title": "GRCh38/hg38 8q11.21(chr8:50082603-50792866)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 8q11.21(chr8:50082603-50792866)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_8", "accession": "NC_000008.10", "innerStart": 50995163, "innerStop": 51705426, "displayStart": 50995163, "displayStop": 51705426, "variantLength": 710264}, "hgncIds": ["HGNC:13740"]} +{"accession": {"accession": "VCV000145897", "version": 1}, "rcvs": [{"accession": {"accession": "RCV000135223", "version": 3}, "title": "GRCh38/hg38 9p24.1(chr9:6312800-6355675)x1 AND See cases", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": {"value": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "submissionCount": 1}}}}], "name": "GRCh38/hg38 9p24.1(chr9:6312800-6355675)x1", "variationType": "VARIATION_TYPE_COPY_NUMBER_LOSS", "classifications": {"germlineClassification": {"reviewStatus": "AGGREGATE_GERMLINE_REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED", "description": "Likely benign", "dateLastEvaluated": "2010-11-30T00:00:00Z", "dateCreated": "2015-07-13T00:00:00Z", "mostRecentSubmission": "2015-07-13T00:00:00Z", "numberOfSubmitters": 1, "numberOfSubmissions": 1}}, "sequenceLocation": {"assembly": "GRCh37", "chr": "CHROMOSOME_9", "accession": "NC_000009.11", "innerStart": 6312800, "innerStop": 6355675, "displayStart": 6312800, "displayStop": 6355675, "variantLength": 42876}, "hgncIds": ["HGNC:23382"]} diff --git a/tests/db/to-bin/varfish-db-downloader/vardbs/clinvar/clinvar-svs.jsonl.gz b/tests/db/to-bin/varfish-db-downloader/vardbs/clinvar/clinvar-svs.jsonl.gz index 50b713c218b0a28e545febf91a511e9af7d6790e..ffd3abfe6c91df953bc1a3aa9c6edfb9f58ae350 100644 GIT binary patch literal 62274 zcmV)3K+C@$iwFP!000001MK}*$OiK@y%WFj3AE0()2_xL}*dj8_Y z%MTx}-@N|S)sz2oSej^&wqN>G(u?Uo93zb;>*8({p+h2PldDYAhikhnQWx`jZ|JJ z^UcdwPvW0{|KzVPKVHAS{&@Z2$=mDiet7x%#0^YX)s_t$UxkNC&)S3lNo`qlG~-@p0p35X z*7x|gn7>T@X6f%=efjM7U;gpS^4sTV*ZWwrT-?5YIb0^(pEh&pjTK7U`P zi#2&7SSjjDZ{C(yY@-_6_+pRi4{u*R|LN=bwf$eFL+aFd{qc`4Uw`-U`}`+qW$?ay zq3^$Y{o)VbRDAf=zjS|YucR=>{OW)H-~Z1^xac8AIDK!(5y9Pj4|NlA$Veiu6LIz3 z(=UY7y3y9^XZ%z6^)tNcl%-dV)8f|*K!16k;ph82^`AWd;rjKPkMEzq{_yR~_s>7P zeDcl9yb!MQBmL=fTsGU_NQ58{jXg-S9ggl}5vzj3x<4EyS* z_dot4PqU0z-~aT@`!Zb%etoG9|9<`Yo9ox#J$d{7&BvG5uP+MHvI%Wo9Cv0|Ys~u? z;Om$j=kR6nH3!kGhOfoze*yRsN8w964P$PlOhz>4M%=2rqODhR02*C;6MsfSrtqVJ zC@;T#^WnODi+_9Z?eInguHL`Q)T4aQ`0CZmS1;-Bzv^P!#x`}Sjj8;T^8fNL`Ty&` zW9-TgZGE}zx_oW^p$sVhUq*EKiaa>~+~!})AKLOR`IT~Uo9df)9p1CNU%o2;r@TX+ zjroQ8pNK2V$HekeekosF|5HYn3uFCXdA$se<(~7UbY=Z~`gFRg+)}+d)sM?pmqYf|~A{*B(Ke9Jn#e!Kep%Jullu^6>{HTuX{ z$9MIPQZYKdON8mjh~=Mp%jMeqYF95!<-^PW=s#_J>v9+LUU&rgmh+p|*Xma)Z$w|C z{!qScy~T3Fs#EFqU zxuf}9-nXNLT<@aJjZ`0VS0N!`CbVQ|n!a^9l{po;zDplK5=D0=pFuJSiX^>MUy-c(D_jHq9yF8u;w6<_K_ z2?nf7d01EghgeNQKXzDgbyCtN(&DawgXtI}exdhdKC)CouHC(_)m5Ldqw zy$cz=8iT;1{F5<^eytN4U>Sjen9ai@<2hFGkmd!MJXNE&!(XbkE2iN))9OtGiLria z%M+FD83A{+8WT{je#tc0BjGETXW2!zcDzAoBqpngm1g+ybyIS7QXgPIw{5-|$v!cDNt?=J6fbjz9rBzcW zN{ak^>TTDFg~wXopdwwQ&6ZFR5L>@0j7smb?~-1Q#$d$hcZ(3|rPNfVovcf{7xbzMK_`0-)i ztSC%-Pe&`FK2=N|A`x{5?`X+ae54&c(%P!uzF$l+0#kTq;4a#JA$PoT6L0mgK5^RS zTYSY154QzjNX!>_U|n}DP_N^SjNXtp!$`MFfYuQdRx&_)5CL4jjgWgUi? zY6(^o$VTdj0hO(#&UHfJYJJ*sz)~bHtvTV0i(Nd6Kuh^6K|a1C8U!-!hq~J0?--HZldMFB1;6;JF=5_xc?=+Au1Y zuM-l~rz2S94T{XzGUK4-Ss8KL@*YNHIPnNtSYQPe(e74+D!y1GQH>$JAW-b0V0p^DLUH3um%`b zXlnpLzGPxZOot|V{%nT2u)K)(=d7Wyb57tTX%vpbs%2>fUl0Rirzs__2&Ef0+ z|NrmDruo)>mu>mv!%wd>Cgz3z87|JP=@8Kz8g*C1yTyi&0qBlda1M0g(1e4qtATFu z`cDsZ=BUWT+{8Jdyb?kvJpf&K$p+oXg;eb5>PaegG-!r(UfQq>GTKVL9%PK0fXp38 zm-V-&W33MAss5t<HIwSgrCl?`VD=S3Krt(@=b;^W~2Vv&+TclF*Al()!HNXBBpi=56l~PcOFvd7% zoHk~}rOGQtm<6%N=-QhAGa53JdNj?9OyPZwlPPkDk;JGWzK9n%Pl135f>cPDMfR0z zJcfdH6hEO*NB>J7GeA}m@yqI-Qyh+B)s%52}!8>Q7!w_9kP*h zK^ME0b2E{G2z|!1g?Ha^U@9S(&~c8HVjX>)7~dNi$Qs3H`P2 zl>lDp5T2(!j`DGR_KP@4$5|F6)FS6-TA~-6o1s*9AD$obHnC48_hKX57*c!HmbCpL z0@Z?cbVxEHuho+j%7PQg;H{HIMW9yL@Oi6lq)o{6w~%8HJwXDPr(p}x9CG_e zj5DXiokIN7fy`0fw1Z#;TA2i%SJxe9g-B`FLSMn!ma0SGC?zyQSXX50NVz^Jxa#M3 zl-yx9jmJ+pqxz1iPq)$?BnTxU<>lK5i67}OklX7O5wX_^BqTh$o&b`tgR`xXzeh)J zM&FK}7SdHLt)a9XQe8+760r9F;O@G1nB@#wk)?NS>enAV`4%bh@uw5O zv_0`A`9kX7fMKX(97sqTM@~L=aCNW}pyI4I3egSJM=kcA$XP>%ki;S!z(<{|lwZa} zAX_9XIVc0M+Q_}>C?8wQw3+M+udH0p_Jg~3EvFWKlBzUIg;kBGq8}rzRL(We@(BexUgImEaq(!0<=c-X!>=A+t!Aut6^4iZO0|Bt7GbI|Ht$ zQ@HZ_!#_l0ows6#k45+x478)fqeBU&#&zBK6{n?Kh=-4^ouLE|nbjWI&@^X23Eed2 z-Y6lbLaD{FZYfc6{9m349~vvAES1JSC~J&*_FwuU?yugzDYJYcak?Zu6D^c*5bNr< zfBR(Zb5Q4e4qw0c{`!BvdHenQ{9T?u(Vw~5-(P?Dk0;+gfAR6n`*YcSfe5ZK-UUJZ z|M$s#%z6a(H%KiOuiuFK^8UClkp5jhFUQ35T4eo=VpM_0)XvFJFDFO6H__CWZS= zCccb4|B~nb^Vc8#K^JRL4v@=o?XY)TrDR)IE6#?<%vtTAv|F*N`giNxd~J+ zat?+o$vO%LM=Ifn{096cR6)rhc`EN|sm`KC)KQL~A|m%SdfahwRt=R>E&$cTkqTLn z$EmS+iiJ`xFm_zfL8%l<9iX-m-;Ts0h!%I0T|iWt>lZoah9dij!mnEOS#LB_E)QJ+ z5~{qAT1i|sIg~b1DQW74N;|^PBcS|VTZ+OvWK&RrN{KPd>zWxs3Sl;{(=e~c^@yBS#OxY= z=jdo-jDw*rB zoOlINO?r!DAbJeYqO9LNF-S$OrAHz+L2g9_!jyo)N~0tcmUo{8K`x09hU#^B{Uqd2 zJCc?`OGR2WR8Y4q^%+3^lB%${l&j+|Ahoux*RUZuLT`(?+Q$AD%JX!T9itnMw8#hq zQL){1$Su*_YdHm44M4S%>E=p}ZRDHn=n?hni{~Rsh-rxvI#Ok3LWMM|vuJ*zP%Uw$ zxr0QE-WrKh6jg9mm%E;D(I{6HN4kb@F5)$o4{+kD1H_^tJmS7NZA(uS3O34J4ps3~ z(no-ZOe?<)mqY?}u}{$5_T4_XG!WB)kp{h5XfFalqn`$)N2#bDf{czcbd;p4Hlat> zb$yX%%h_YneBgU>wK6FHNN+*Pi>~D+BV23PQfViOfhn60v(n}4;g?%SWgY5bAaba_ZD-JLrFCbD`WSrXFuN05#slxV=#9MXxl!2~?1{ zjU6|epww(%pp51fBn>KGC$=n^z+x|x8;Ny78l-z8O=-|Zss`?;w6$U*fmR28h&(@f z7uCsJw&J!nUaE|Mi6(?k^xoi>L^JEg+ahaCEP$D6+fvbU8Af+oXA|8@{e+e`>WZGU zy1|O;TI=5|)u-AK_iahH)X~k>8}1;Up(&H-wbb&xktzyon{FQLo9;I;TdSX0KB@&p zNnB?}bO5semCdO|AsTH_cx!a6!CSQ?5MjFCv28jsPU7YWFkwsbCbBwz514{BS-xGE zir79jf)))I+OFfJj7dV<4YMyIvH;(%U#C2$x(@4w91twr7SE{8f|kG;?T2XBB0@^U zu0_o>J$^{H>rV+!gSZ>r9f^au;{(|>0mW1OmZ>9K&hijLa}v)*hjh8}zRwO%!X0P;pKxl*{`Qm=YEI6U&21Km=)d z!{CX#i;yH9>T}4#Ay}j7NShmBd!1!1)Zw&7AyJA@Hbn@nVlUU}AP8$o|3s7(27^!q zpVhI~3YbW3WUm!nspd{b3;(oU%f<545g-oDL@LtL9?Rq%-3lhY^C=lhdqjp}OmM3s ze@5DS_xCksT6m=wWhnNkkXPS568q^QNd*!F81xU z2f12?zI^@X+*CY2dL4Wt?Kmo^jc`)vrKsR=^)xCt44TQ%gYe4*pQYD*SdTk)DpT2B z>|&c~W%|6TTm-f=vCoZLp}*;DU=w}{pwV4o??auE zxpD-`eNL*iDJ?&e>hpK_1vL;6o)U5>v43YcNfggQ034wz#5LRA&ud{u&eEY6pySXi z`(P1nI!ELC1QdVAj=vz{%=M02%*mE3Yv_GztgwC|o|Ej>R$mf@7F52FFekfy&bHlX zP7>nOZ`NW?){pJ_IZ5Ux{~Lk$jw)CpXX3hkO!{j!QhCs}R z0tT_8a-w_)61{05R>bLO>=UV*?h{<3+x7hyJM=g0 zZ9t)O@>FIq={p+%_#9J5xNs`781bNp^zQfxcDN7LN7T-gU}jYvz)2@0C@6qS zERG5VV;>ZaeOX@Hr9R?2n3!_Yv5j2)MYO6#J`I^{yi6g?M1qPmB(XZ01Y8h_+A^BO z1khb%b41QKH`C*gApm2D0{>QXRp$BH_#-XlqB zEE;MlsUhZ_=uRdz7OwxCn^<}wjUHz-ys&PmoNl;sT1vqKW`RZF=7B|eo8xiC#I6rP zWXpjtLdpoHT|u;E#Uq4G;NS${9NKGpBGVGe#}*wE5@b#YX4POz;!U6462h^zWiO0$ zn8YcFm=bAA;C?N+QKZ=+K^!6s;Kigp?Dc)b!8@V^Al?+j;`?VM2#GOCa!5)v;zs1( zQZx-B>I5MId-1W4UJQx$)OYVc7G>*(M0+KON8)U>JFked(Y{P7n2u#DY3@GtE+mK9 zXj7+W7on4bAOk!L5tX|2jzsEdB<5w2dO|GjhWFI*zXqETMQ$Oo>UyOm>6=Kzjc^>z zg*v&2Q4yt}_zmA3;tq({;`#I2)f;bl6K)Z@X6Fa4Ky`LNV&JvmZYdH(egVXa%(y^~ zy9D>2$QbExQo@r;9Fa~4gSClO^AUa?{;vazYkOu0lGJg4st$$Dk0ewSpG?eGdaZmy z2%M}(Uy`m&Q1&4iK!0YRvV&HLBABtaW8!B-hU(WN^fNRiYOH|*L9u0F7feX}3+{il zG|~DF8d^M?DvF^M-G2k}I1y=y6qdw9C(nxXYzd655059FRp9q6Bwvw(ko=`+!BO6% z^1?{45JBO|2WIz}AT5$0kGwO?KGNJE{!{O|WwMEgEXC^6b2M2~?!!5-<;3feH;TE@~WhAsD7$nyYfg1V} z^?_G3ZTp}Yyk=Sr^{)|*EQDN~|LFsQEl2g?7I!#IBle13%vH#s`amju3wC@X@Dvde zTJDGrb_l|^kj%$~wM0%QYd-t9ZAZ=vM=}yJOdQPV;1APNA(yp>1n?q;maH5^ZKst8~zQA4>ciCa5N`v|ui87BhHg#1!hJ>wo_IOUaE@U<3e z9Z?}7B)xNrcW61&*>bcX!Y!tK1CgbUgR}@twb+_Ts)>9Q2n~H2oaxx_Zp1ify+rot zF^za5NhE;>e8$9nKG;Ibe<8#Haid31%a{Yf1P~n}FdfJ9`lmv1eVWe{icFwi;1TVO z(FATBXK#txBt)@>cZj2R=nyjNkSt?uH+H}-aSW7Laia7x6Bmy7MEX*ccL09yVgTv^ zL=zXn@ZLtB&>}Gy0o@66ftL!+6wYtbY^|oGa2akD_)B?xinqo=gU&0Sm@IEZ*cb@t z=zC%LAp8!0qGP5VnNYWkP%V|I)pYHZ%5XK^vR%lsgH_-1%T)h^KJWskSX?!rAyXJV82L5KswQp z!8^*xv9+LA2b;p)3ducILd4cfSwYIAVt=JAHz9tG%`T>%k0(sJ{&{hTs_QLBp|f5) z4o1o>zD1!G@rwjf-wte%wvd*;dH;ZkGg20krxX1~p+H()2~q#Vo+T0)9j#ABgci9A z-W;)*<0!P>Qwxe00(5z6p~(~B>|p2T#2TsB6W)nDD_R5CnrK!hd?cql>7HTZ9_TsI zU2~-PUxMR`%oY;Olwih27$Xy$ibS-PMM8lV{z2pzCkqT>*H8PznbJt1Yl`+FSJHzD zyOll3N}Oo}6&@w5X=OnvM_LmfPSM3y2cd?J`Eu`$lsBE`&sD+;+%)|BEH zY4Aaar_g3Wn>wq_a9Kk7u47Wiq&*?&n4mRDOakEZxjY<_ zLohkkw>9Nm?shY`d+Mnfq}`>1wm#3 z2{bi88`!et$yDDbal$5YZX&Y6rsD@hYl^c!iG6)|ur${p5g_=XH>6v|dy;=c(VNsK zT_|u0S2`kyL@*yAkQw5oj4%TQ$FuC?+6exTufT7PxG8->S|hYNaXlh494_G)M@-PG zkY)xk9H`pJ0f4B9=2D`2ph9V=BO=W)8d76QWC(;+yS9fkgiBj~(6lYFcx1S<4)JWt zE3%M+7IoJPloFOZ$Fz~GfxS4M&5jOhxVp%alL$!`EpOUA5~d6=gghT?|A_+uiG^7$ zzCg>mZw|o6UI&8s5QTnY1n{=KJB;lqwLnGw+9@%{$3BS70TNn5_--AtD5SZqHcWjq zpO<-u_yfKcRswIEiMJ{2LXbBSERows(29T?+%xqZ{1r<7I z(6Eq@cOYRlJs}bVQ*0%{#i!?8r+mV0TOSI?4~bb)B8?_R3$u1u>m9-%iSzliee_C8 zTAVGO1}~b#f~eT_kGchS;ZPZ9Eq^B_oDp9Hsgkbas4)RlWb1d7?gYfQ7}h1sUd-gg zdlkM9&)dk0rmitAun^K5K;o{L=&piHJtWLlIo5Id&qVb{}$j#HKqfxWs4BIg<@k4i~UY-16| zL$18T4g&g%9CE@_i~|j7K`97j5Y2C~2}Q6f3UV@F^byvU87CkSoGCIwb9OlPAz@D5 zlG37Wds9x77KxP>sT-^0>6W1o991-plon~Gw4iSmnGqtVh45bN%|ux@`gB@tSh)Cf zWDby>fiAM+IYHC8S6Fb69^MamnoA0c9&XaqXdN>6sbi&hjLdH6Yf(y@o&X|^k!7s( zG$ZK!@b515Kl5KZP{jnPF6eUVHv~$Ak%tIwnffUiG1uq|betzm$O_Zd5!?)kqWYZh zV&wOw`XKl`WM#rebkC_@ou@B-NY8Gu$Y{=!Ya5Z|qb(YFs20?hmq|CImnd$I@IFHd zZ6+O&UU-^a+dt$8@TJ&5WXG~)WlsxQ#|w-Rza#VUJ{&pn-eO_)+fo~u!gEA9!WHR= zeUo1tQ|v{$w5U4HsT1NM?A?cfDMB8xk49$f<4gr{OLDYY3OExEVTa|Z5IG@<7(^uh zsO7DQ@>`Lq1@eD~Ssq*~`WUQN_Ww8?$d-od z+ObV}&uYo{;Ve&wI0LV0+UAG})4!;UG;t)0H%hWuU7#KFTVCKytLa(xJ32cwJmGjB zWPZ;e#hzsBiD<$-vFw30d}OV`yP*V2;%Ecm3}sbo%%$yb0Zcl=AB4-)a%6`^r&K*Sf(ILgehP5~p?=IoEbZK4f@b2bDbltXJffHdXGyS`|n>thi}GjY@k z338fMF%9}RWTqp#aIs^8)v~X``STV;i2NW1jIK`=CDseH97IZO;#?CJ1x5KN6gK4d zVoE*P={Sf(Q5eLIXm>}HjU^}aB~S;III#`F+fqo3zXTj4O#Y5CTnU^ZaR#f;T_p_f zI8p}Rkqk^^j?2j?^42nMWAZ`1E18EtsN;!Ep@v8fZ=#r2N?3|W2GTx5yB|3hL~|m@ z6L$W@&k*}{0`UcrpvB$w42;68y#vvKsq(S{6RG%f(RU<>1cx| znX~k1`9DyF}#57+J;f~Ovk<$%2hyY%1q6E&t zri@r_yc$TdhP{dPtVn?)aF9T2;4pCbf^A7ea0rnS#4|T)6FeOv_jFG!Zmee!#NAUb zDjKXv_}Whd3KF#~TxmE$h||-bu{97-6Qkkx!$Rt}wPCWeGaeD7PW@y7*W+IZMI+o` zY}pA897U=q`H`42VSVsY!S+o!!9m_pT!TC)gz({K(1*3y8Sz!%eiDY$K1&N56e%S{ zIa@fb6l$R_%fYXHv*djYILyzNKpDJ;87_83Y*cuq#a5n(oD;3)2hC)%PwLQj;8Z`p zE^h>hqVN<#;Aul#lDXNp8AcO3=iI#`XClZv04s7F}Pq$f+`s<3|)m!A1QPI z9#F9HDu6rOyIXj+#0MzMNIMiQ)RuV*vlqnt6Dv94GH-;@)lV5JO3b4Rk|w z#Ne}ceVm#0mdNVz-e;$zN5s^i@@Czjg*ckl#I3O1xi*;#6{aro^g$^3nHhR0wpJ8c&fkn zfBw+QDy(ttnQ;F4^#@}~mh|S;o44=Zd?-qXx8Fa1_0tpcIcjG%pE#oqjX%h6rxRyR z8EuUS=?{O#H~Sndc^~^N9XYd2h2+YSGt&LiN6v_&XU+&UIoePZHKEpF)aQ*~S~}Tk zboHbjlLsx=ZA@%}ePX;xUbZ(f&q`Z0r4{{NTnpTD~P-!H#;^6L8S zn{R&l@bUedx8MInJtf5FxYF*@Q$pNXaea$H9|vqLn{WtRV{MpFfeYrKD-)$=^|phbo5IN8d2g4nL^Zo z(f5nPXCd#^*Ky%-!?aX?N6!h-Tucjuswjy_Pl+N>efSAS;zUx`P;phq)3F;aZI>=Z z&0n9BCaXkBp;AN_A4)=2{;~fa{7v{X>UTzIHfvT$iAFO9*=8ymqzBL<6Bm*HCK&~Z z!Lat|a2HAql1i(scL8k(BBnH>JKPo$aK&gRx?3*?Wt24Q*-Wth-fTwsiEE}8-6}+1 z^3MAH?e}j!y#4<9$LuxzaQ*zr|GNJ8{gZ!xQ%-~@SL$=zU+;1NygLYgXGdyP;N=1s z$)cSWPZoEFX1yb|c>SkmB>pHP@zb!22qCZC8)27h9+kO^UtlDot0#r0*E%tm2_;bvJ zpYo{j&!hTO2=A3?L^Fb)`jXU3QQy(k6ZjbongwB&{2_X$CLHyLQZFeaQCkP{NvsUA zmX?GEHN{3}&m}Z`h@6}wmQ2#b`feR0HY7TOB!ndwoOOm|iM3)ZuSqOsqiihef)Wz2 zy-*MJm>pzcT&I)P_pfv_f(b~vmu+DF!PJ%VbD5|H< z(m>L6b|lM+s0K%L>y(ds4$KRBidUO4Pvn0lCtohKMlq(T5$4~uk$QR$y=7(?NiZh+o#>DAB_yp()+hYDY}X7)lc#L zclqD+!`Cn0w?BP|A6|d;{!RWl{q+8iFMp)JrkC%3T~RtcfBoI{%lDV#oM#vbCE0&h zD89VsyiVhhw~x>9;os+xFCHE$x9l8?*MHWTkH(px8!1Lx2fd`04i6n&J(YJ1gJziz zG4C`pey1aekB;grs6_Jkrhuj*9UsDus5>P_NDV$D9Y}WyaeIq8i=niLTYhqBQD20C zz;@d$??CHMK+QBwEyXrA?LRWCP`)+FyQlVxum9Le6J=ANNjA+hCG8L&X`jD;ogd2U zmrtI*`03S){R8ZyI8>1Vi!_wmPJ6Pa9;fg(eiP?5r|Ex4u( zMawOUI4I9WnNlR@I!;eg%^?~@l8~QXj?{&e4zIgIiYk8{u^K+LYVHl6M!D&GEXJ2* zIrjLE@lUY|M4U6tK{%nFIiKl6erSqe^iMC}=ZEyVhsuvnUJP2CAAbDs;>TCdGh=2E z&gZ!FH!A~W1p#+Af$=)qJ_a~FX36`9oc*Dy5`Sr_@rHBkW$=v&&G^)p{E}#VP;)>X zUp-BE4TEN9zXU(WRDP@DZ4bK+4GstwsnD(E`lGHdJM2*XN>ED5iPUlPHZFW_sl^HD zclhssXbLuyTm;pKElM(|1~5`ko2p)8q!!1h&_+!ZTAgv-VnY9~h?gT39(7!%+Lt=j zo1%6hD5L4{iKxpOss*X62K7#T0Up9R=v4r9O^3ocE*GN$Hm;V6T_sgZI{pg1xyVc{Zi5Q=6L+JaLfD~bhf2w)@j#nUP)xPuT-(RBXh1t;d?G;Gs)lp#=&Ml5;uYxbx z*Ryu$7{M0!cM~h^QZCTtwL{5GJ)O86)d;++n9j@&wfB zQ0k3G#HE&zJ05T;a*IX*_5Bm-8qxa^^ER=RkLDra85+u<0ylPj^98EprnU(Pp`)P% ztWLSkHgaKgiWkW@Y`J(HBeiwbrzfIPyaiz20KSmAEYmIniXN?FF7R-CJ%*((-PCEdl4bB+9q; zZ7;aWKlPQg6hlgB2oBYJMTh=x^ebSwE)UX*(gH&gICZEG#zu&&H0Pk>up^*j0LQ85 z#$cJ)@^eGodxR1Z)3WU+H%oabF%HQm-3LK6Z48Vv=y|}m&9d1x@!E`iiEHc;j*D4g zr_8Sl^hO zgnX=|CD|;mDSRT(oQy}fGF0Icj`iz?=vLw%(HE|72aMW(AT;JN?VF639dEOE_YP-8 zM6OjPTF5%t$ZI_EK0r~;mIcGaJ&8$CU3tW2-r>z?ZO6VSpEaexD0-~mN!&>Q#l~C@ zO`8gu9>$J8ofP2-kC56((2|R&Q%1>nqO=CLcOia3aGF?IF?1n_k*klvFcRd`yvA<) z7oA)Pi_toS_Bk+;`X0a_Y)q7Csix)UKmy)~a|3~{)J!OGnSMV*I_{9r66{jf7Uq;4 zwT>h0Jk4iNM;?z}Ni7s5sU2n-ej*imqTUi6!BfP3Lximxs1Q1YM0AB9tfQIPfl@~{ zGhbZA$3rfPnq1sSMv?3UQuoNb0471Q2{_orNe95xx7wjt(72lbaG3gQbSPrzot*Ju z^^tR8Lpehn8VW>a+bx9pk#k~+b7FkL4TbE-4FwW+Q@hbnAXWi<#O>Yq7v?RS8YC5D zKA}wsT*bW_2Oht=8ZeL;4l$um52txaO7s8%uMlBx*l_oj^y-XOoJDK z+lc+W!8xqoG47Oa@V60V)hh8A{tCPbwpiJwGbT4Hu75QV&931lAOHN5>&L2 z`;*dWgi{FfBNgMM{z-!o(_$sJti@i7;7J!5u0YgV=C$mC@-nD|iX3=mLcDwBf1ODE zE+-VM_HuPX!Q8)>fUr_b-or2C6O8ahviG~+m5BGjsm44D@;AZ`CnWvw=DSyK{{8y( zlRv(E`{sR3!(M;<93$JC%U{fWYIRRp?s4P@mhHDFS20^su8Y@y`jo3U+Dt%*n@UF` zwHJD%b2QSJ#f0l{<<0ECFkqS+a9XHYZh+qAxWciceHxL_VbAX1Z&462ViQ3DA&sCq zL*i~7#Z+4k@3gG?qV1FDY~2?Sc3~-4A}_2ZCPu8J<1L`;J+2NkihXEel6_Szhrve$ zvDlQ55diVy%45U?`k)bt~EMbw>RDjnQidUxCp1ws&KL*F`- zLne^fjyvXc_2g_Jm< zeZ8lx37G;!a63E%e3xosifcxA+#ohBvuE~P5y3@FI-yf7-#1Se{&Gk>z}6gPVs1PB z2V|W7X_3)s@f%;myq?4ZsV5K-B)tWp;|{NhJQetT^wnbI7!5f?%=+Om#kP0rVJ_-J z1{x7Ld>A=4MzIG3X8FnBT9C5X_NoSAwF#e2K}d2JQLIf=iChXIk))kKS3V9kcI^6- z_lTv~A#znen`4m>I5TPL@BzdiJNE5)RWKD#pusKr0-|=hlE1cNmmZXvGh7iJ-VkAC z(w-2=hqp{Cf@7}4dYOb#CV?Y$q~ahNN>n!@lE)2EQwt^y#~{Vn<5eFrrb{`%jL>Pv z^Byh>1vVm2Spuz&(;0}uaM+;*0VQX(qZlrEz63IGD9Gb#Ihabl2MJs1%p}LAgG0|5 z&OW%4;GbYsMR?hqPC(>`$UCK%x&a_KBRBt7%fEE}%b4+zyDPwjLGX;8Cl?ZRxZA|h zPDUn*1j1EKeeAd!9&G|Z@*;s3+QNB3NIT(F1b9Jk1(2R$w+COFKZ-B|HB6MOW3_)m z#4T|^n!jsgh-i@q#rshhCvpOa4HWxMS77Q8RvBekV7DTxB9$g?2^&KVBcxoA&j2f9j8&g8~tK+>B9pVuX>o~tfZ_Z4IpCDr5{RD}OLoMR@pa`4^r(iB3jJ=d& z2vYJ=PC&$#lh%o{;;{vr?fn4icLRdPz>Q=H=a{fDkzLa8zwvfM_uB#th;*`YgZN9^ zcB6;K%d_KXP~-$w!p=d@HGyH%N{=xP^O~Cs<8fnirN1z@jFAa8qH7F9WRniA62U%z zx$RS(J$u5o00VRY;6NY0zz^D7F|

u%~^5gHUI59Q&e0(}BxUEUV9vC*G%!!2!y2 z1edHW0-@3SqX0J>pU1;c5P-QxRXW=?lbQT}Q+E)+IPqmirDiKg46@GZaE**^*ajVdBg^YZ73$VWo$QaBK|*m zs`No{##tvr`xl`axCbW_N!dftLkWWfFC|6>5~7xfZDY1`PP9Xoq~pDjXJprF1Zd_) z+T1B}9znFoJd|Exr9_K-3MG~(IMI=Hh}|XRs9FdVndYR3C_8;**MA?{9YC2Q78*Tj zBCvc9th}MM!2iLfi%egKya~H8ME7aQqzW9gPxYWk+a678@|yZ>D8fUAO zN42C6BKYFuVuCs+A{|F$0B-`%D1y{=2%BIBhS4Y!fK`W`h23ykL%hv(Of$e_cy$Bn zG0`F~J>DkhOSXL~9a5SI5}8__^DSrDXcWy;whEXz)=+{ZiCrVO>(pS22n8Y&kRu=s zmpTygL2nR|q(~hO>IHyOTnG+XN|2ZI{|_Ys{@3;tw~vhsT(fdU z2sR?m*AD&+?KnFN1#1pLlf2`UL>YJVcbPR7@uU&;H zKrg9muH!we(6u~rdni78^F}W7;0QUJ>c7$3MOhod1$iIm#JFgwDDfZy8B(NpYt_SwpcATnZ z7RB>}a`*JjTiVv}sCr5dz(gD?;h5^no|REP932t^042QE$jj{Qq5Z*37TwLC2-<(m)yh;aOw zG{v5<3L z%!)NP>odHb^%D#?1RCw%zmn1ZCm~~1V*K~#@4tQi{`&Qk_b)%ZEeAY&j>>_N2IHIe zKYn-PUXORzTz{OyZ=bBS?WEtMw5M!4{CXiqEoZufLt{5pP`?afm$^2^?u+F@mUEJk_R z>7^3c(fdz&4h%!4A{f6e2c5co1^>9$~JrQ(E|^=8N{v zzx%36#e_b1rJmLQZ){-!|Kkg1o(YlP^4I^9YWIJ7^YP8=>laTZXJp9FaiMM2-PL|X zch%i(v*sEQ`_muVzy9UxY>+?xF@M+3(Zct!>rxAp(x1?8Xo0eD{pZ{QMM&?1&|^g& zzvPx`_J^ydHTxK}+#y7Xj38^_#!EBl&bM9B8#3NZ;ATP6E37o7_1k}|O)RXk&;FAR z)E4B6w@<%*`Cbb3?FZ_c_t%#nulqhA<$RtG*B?H|1+W=n!hNK@D=qlo3DP}Gx!71q z9hBJ8SZRL!FQD>0iYj8#{9Y;Tlpi-%DzA8N7j(X(Yi~lzXvnOWX`|*{K=4KGi-185_IAiV*EAj%W|8}z5bA4jI!pf=JNJkQBJje2!449X zL?QgJmD8@iymB_KzNO}s$PH=DutKTS3LwXa6i&A)mbDc;7ckL+Q zMd4FQz99Y3k;H*R`3ZU!%Aq6ANwMx4xga4}*N3g}%_!kc#-fk}VqM()k7Am5U&Jgr z2t_ECM`4;Y#EYQE!V~C4&A4-l*-#dvK01DZB4{)xdVvrroU4+O^#m<+CKRDz)e2(a zeQh)awD@U5J=7us)KOv%O2Q6Nt#SMYK|zXlQ!t0pUwz+$jz5eQ3P^2I;Id;YlEx?Y z_17Io@YpUK4n*Z33t%aD)r*;0h%BL)giwhr3^7_CMdTa~MaXG=(c|jhpR&)CGQ!M` zkj}BLfnvFlz6nL-A`)bYD<%;e>-r4;AUbZ5Hi(?oiI9)9P}Oy#IUOm`#sSyVt7VY; zsQ23SD$A}-9OH{aa<5K>4q^6=A2U7i4%$P0k<8bjdXiQOWb_CLcSz!LRXwC6kg8#= zrk1nButh?7ZA4OnGm!|zvm}*tmK6MkiVorj3K^1q25G+7r-^u-v7Q46!GV;|ub!n8>CMtoPa4C#7N6~evHJ8^6mG60ft(O)=4hUjXq$mtV5^r-|9 z_+y8))KY$q@;AWIIssaw&Y(ZwoPA4=p*};@?jmK}B9hFd014KONb!)SuR}sG_SrTT z;&mjMZ8^?PnHXedBLo|iuxfb{lb$0%FVGFaYf3*O>L1(KhsJ5Q>X2KCh?zqYTOk*z zcv55}sG8cy_m7>ZuTT9#Nu&P7wcHnCtYbqtZjppZ;viih4CghkoKjGQ0$;~0$j3wcce^7iNm_*UNXUnQ9?JCY_|+xy<#5} zv`s7!#GkjxaOmnCBr;Nyv)@OYlwfq%vdT^2}#PbFXWWQKtMk zNi*;aA{a{#jxD}x>Zqd@0Y6KuA{HJ*{NyB2t}=pqM(+4PRE@tZ?av9EmUjFUk^HXk z3eg0_S)5Ggi9%+Dn}eJz;W)TF(OJUW7I}XN7HJ|wMuLnxsaa^_gj+#Ogp=Ap1mHUa z6U23puJ53F9SO=v0TP*Nf@dY-=Y*jhrg9s35=FR&ywb1{MBqarQb)+yv52Vu#<4Gs z>9y!|6R4d_tm0vUz)XiYLyPSO^FP9=>3Dy`H>c-HuK;VR(1!Ob%BIue=5NdUS&NMl zV2%5)_(QyxRTo_^uu6bW;uFZAk9Zpq&aM|hBvLl;hRvp?mD(}j;~u+?=OJ$g{nt*U z4oIX0W8oE{I~*R=%(nPIQaaEQ0_TKup9O9Zn??|Ujtob185bqEuU&%7KQT)j<^mpB zFIpnRqum1}x`XgHp~+B(jVZBjoO&Q(oa#ti3~z?aO1BV4ZHCAXVtFXB9nwzo4Pqzh z8Fe=hMw(rT*d{DA;2CbCpHIvna6wP}TNZxAo*0nMv>kXnePUNBe~i6{fhP?IZ*IAS zl|~8@NQG!ii=-wb`i(t_6`j5Atp6wSw#9xW(c{!>)F57Ceoxy);;IRH#{4&u>LmEE z^dR6avXZc)2SM7B#FF_4=|}{N>O%=wJ=nNffK3N^S7ItucNgqbZSPtm+*LPfDrh2u zP`wigncxv_?nAEZ>aHQO^cTKoO0%S`m)>JYF^r<4SKmGTLImrC^v*t`pMvziepX)% zP6z#relptrdfZXu)lVOFxE4=dXVIB+}8zkMP;#~AwN4&|bRy{8SZ*CZzHWB13AsaUq{#T=7)d#2)s zj-#I-Qz1t`UnWY9e(p@99Q{mMNS%&8W0E=@4Vor8yf$_@rK&xh)6Kv5{ug0`Z`J~# z3N!ha+6sh9+AvAjnpv(@cp>Cd^+o#Amw!^eHUiQ{|3*x0#J>vo*of444Rz<+ypP@gsndQ@w8i3rWvEmdc<=6 zz6U@m)ikF?uXSNLEt;qDi+}mc-&&!nf=X%~+%u=_Z=~{pY1)@BKEC-TuZQQaiZ&!$ z?8Ei*C*ikGzJGrG{y)Ede*LOq)#td9?r>^Mp$_tHK()f2kA!|LnsKomoZWV0%)<4* z0R56jWwdgFO?iiEya?lla9Szj#lpF_qiZKE;f5hITymDqhMFHbE2J3+lyYYE5wyAq zZYnO@jzE5@sZ}=s==Fzxh{igvH9Wx#FRwrR$4`f^e*EUu^Z)2Q!6)`}Tn2Z+l_sx= z&A2j{>G2@P+)#^-o5?QT7RPOV{pWmQcB8zMCfwjOD)Sbj7dg#v^_0^LgJ#F~g<$0W zU5N=o$@>PBl$NSFg$ZR7l}0G{RDbdHSDmQG6&r8eK}qGFS?&Bm8!<$W-oO0jI-B69 zCm-JCsdW9~$=m1epTB+e^1IAW#AO7DRFPaxwUH|c$vRs;5@1<0pfe1ag>>@#`t9sgPiZE9QU_tGM7#`>8^0+g=LYf!;z z?L`aO8VNlp8wG6!^i;@*QPv6x8t&20JvT^n(e}!mmhwWBX6slFL}?VxF;k+i>$CEZ zFh%ZHgKQX*+2}GyvMJI|kl>|*Y^&|FFnzuf3JMg6CrCt6pN)-Zqk@JnoaRf&WN^xi zzBE)KWQCf@?9gw9G;7GMN9apq$5|C5UXfnvkokoQrHzBJA^Yn(sPa+%-j=iBXcN()EkOAbWmzG2 zh0G&Ch=ZIC1hO4hZ1+X`EfgRf6vcga5#-jORw6A&WSv1oW*P>hd_8y7=v9vV^gE=1 z`?L~nn6v6#P4)GS6Y6~=BN-J@)vw`g1)y! zUb$cIP;;?pjJxA?klxWePkje2))H{Prr1K$6k8URL3fb&0kxcY=T-xx!i>mYL&$}G z3W=XXKlc*}Q^^pJwkN3B66fSwx(7VdwpU9~e!BiYM7<=hVudC{1*PL#e!vhFK&K9E z50pqGNlOs*Ak)nnZ4zA}qe*IIh#v^5ku`52!lM~N7+5}lW^i2$eU3Cj+>ls&oA_Uo z{{SsX(2C^-2!dvrfU@hT?HeStl=bHCMB7TodhOAc0Bt}09gyF3Kr2X2A!@6iN^)`B z8h;BkIwAoc?I@@U09H_!myVl0K*x$U4>&jE)aKW#I8!&$@{KIVo668UthZ9czbkbgY{rjDqMSrd}Xd^ZE1-?R8iX)E|&!4`}lOT@obE;2y*^NJ~SK z9+K=qg~L)C=;zTXDnT#<)pTNs1+W@o92S`ou3}6iAr9Sk$Kq$68H|;ru)!R!tC08F zYL0~Zhpt!PBmfKvI}%hNKy0dTAsK5o2q_4V*>q^61i1~#ud#PW2$AYvAp3@bvKRb8 zM1&mz0MMdx0t$Q(1E?y=s=RV(yKK>riO3kFND$Jo)(*^S5Tiv%x)OfsK;f{FLDCv| zmx&-lB&CU5jnhk)BQ-O_WI_P~Y6Vd1(PFD;JM`{CNd@VbI^I1ZLu+ECa7ti35&OlU zuj3|Uv;uKo01tv!2!&~vj)R66ig)5p9nArLYi2c=K6NoeCfSnqo+t!OP`ZEmG-yCO zsBV}4(*t@M03DBS4Csl~%=A$J^f-bdqIV>@>jpp{{+<>9oj{x(Pul}}y9nrA+v9nf z;5ndajOV!74r;Kp&Y9`>CR!MeEC)qvBuQ?45|PD!-1H54EeJ7NZq|b@!Qy8ArB}$^ zxMtXcTNbGGvplgln4VcBu#jz$UJ@_>Nf&cTKuybT5L_g3Wq7(KR5sAA+@V+z5;*7+ zJHkQw2yzuVsG-T3sixtrjm(s86dmDxX!7=;N*i3q3=Fd27E_#6e}qSE2d9CE0$5!K z1u<46{0OjX#-|7w+90f^U6s(7%b^IbB5T}9)kh2&JJXUX>1e!3m565WCRA}ElHjts(j6fT#OiIo^RZ)u+e)M< zCPD)jki!6VVq*VHX!?b1hj!%pcsi`K$i)eKCI>a-|a$MnTmf+Dtb4|gr#M?v{ zIots$dy60v2ZD$(KlHs1x&zCZ9zprK~lsN>dU43_a(jgpmD~X(M@zD znWhR9AUylq?NFrC!YP0o&R%frqf_)Y6vB(_zSRjEF#~#NZ<(^w{dN&W29f6qu_;1A zNR%Tpx)!`8LE0RtjFBLQ%X~mPsKPAuaRUlNwUEYxgwQf0Hitcf<~zs4dM@2^Y^X(T zTt{0YsBF)XR&cqQb6(dD+}}9ias=G;P>5)Q%XKqI@44KFMzPz;>y(}IuI;HD?vlL# zhV-}$=^f7ss?kVLiFa5BOKgs#f;0!)K4yR^fkzx_( zNXmhjv2T=UE+YJiP#3)iZK*w%#=g%in1TTGcJ=!v1l#H==omXuNDVY<8Jmf1P+W9` zneaDopxzuaQ^zGpGyfO1OgAyJyBVs(rydJvrXDoGR>`LwK$AkeLqL=L^$r+#(gp5$ zFfINTlmMacdKW|%>1a8G3Mtx71f{OdK1k25Y#KN;JYx>NW7Az)Rh&p6Cjb#@tg6^? z#T?OY;Aw)VIEE@rZQ4KEo*wi-F{~;C5n}&5Qa9||l-QcBD%39G6B0vdM6VW(DI|Ed zi>oSf&o(4Ba*~MY{rBa-9Z+hVg{j}@ctPHgrqM!3Y1gVMjdIOB8$}!E z8ndL#oE+q>gM6yLX#Z>aYZ3h@>BTdptox0$o+>3MeL?Mxf2zW%Z?FIT{hLqJ@o%Q- zdG_@m{@nfX%V%Hz>+k;bhm`+z2HjLR2zij|HrbBlvC zYqe9dDROQpS7@i?QSHYiAYSzeMtH4CcD(bW@G=4jBY z!Lczj`PBHGmi1FDV(u-HKNQI&E*@FXLs;2D3xtqI;%ptlOCV816*{iUr;HtC!4h^8 z3byq*&yx`2Y|uy9^w7!&ag%WFYZ_RledVX^q;@S!WN-= zfYZ;6`i(91DMEydZZd>lYIFGWU!Jvpj9-8KhyVJAmQZw+nD+IXk5AsdfAf#)Z!#LK zSIDj~#Ak)^TdXs)$-M!4`T9>UcHIQnBHy=>Hvl`oB;7J#_gBvVn+Dx~jXO&xjohQW z&j@8FIB~POuNu$)=kLE${)v?DYWZw7qm)-lIirO(hx~)LN~mA|Q`DvY^~;w}UOfNs z@^TnpX;hwh%Vy>LHsh^_Nk!NpW|xBiTb z#p^#kxX7c$eNv*i!i^pZN(<8nH9ZWYoJ}BAvw$+A0h5N%!;l#%l){EZ?6GG3K^GZ& znloUJo)q!uqu3+lJE@;aQPz);*2BhdQJ2aDH# zmgU7aySNCe%W*tv0zu{Vkbz_2Lx+oiAh+4v| zfuX;>6Y8lfi|B7xPI+aNQ-|_HzG?Fi5$Ip@)O!E%`St53AFjW9UGF8o@^honZDzbE zAUczYF9wwUc9a#VC068AV~lL3jit)VLE8mZG#YRdkVZqMc%-FSJ_<}oFIKmRDsZIF z07sMZXmbLNq!EkXMGJ0YG* zSwkOxzYCUrmni0 zIX72Q`wY=8PluA+^x{E=wLYQl;8x>Z6k_e7gEb9AZ^D!j!iSmUAir#FunVn3M*}7> zH4K>t)EljrkHT`=4oD=5Xkh~q1#@pCvdXMQBK=O~wN!V1T|&bdly#Gx9+Rh3@Vfc+ zKh=YSqF;tct+3=)T}nV9Mhe~O&{$y)`TI-lgxD$4YW2Z_>2`v2`5C^G ziUXS|N>dMWxuH0)&NrC|&7o&BV4^q}hRg+-O<2YqzagCN^H;bx>Nqe#g;!K4Nrz48^zZ%!W1IbK4p1UAH>tfRVlyDKZ2rk;jkr7lZKJVbx& z(_zp$174IHwqwzn6NhiQUfStAE7Z*O(!mR5<-+NA;~^8*Ycyzf{+$*w_~p_#rGxMr zkVu64BhmEGyW=d#yi;{6H&@x|R5tJBqC_%OuwJVjgHB=4ZKm7N=fcqE)?@P~;1gWl zkNnj4Dz7`Mo2ApsM?+@d(+`?~PbN^u^h~9uWIgmadvE9oQz!03ZcLRxYK@}`brpnG z*}Zg!AguIK$cGsC`DFsqw;S@JoU%P0Jt0NvXwGagCKP1jwJ=lBcaYLIdMRl(8gLVp zMnmSOdRirxgF;%bKLpr#c?QocOxx9+PS~qH=d3al3|5PSYMi#lJjiJDF9b@r8gd7v zO9rKFiG0@!!Z^P^LFO~%x-TfnM%}Lb zc6lv{P&asu?OkLKRfV9#L6kJ15&A)fias$Ytv2LEIc<*xl)ioQ{`Uj|`PYx{e|%Y> z=VxM1{j{07bv%g{+`7?_X`7Q_&^)V_iOUhc&dHG^yir1oe^WPq+W>1y-@Bkiie_~b zT)veCUCpjcW34y{-30w0o5B4uBA7(*`cO~ z4T*B7Io}9DW9sEmbO=U zm53tD%sX?bgb7x=hX_2ME~~b}dKZN^dt&X&XZ9$@*hNKko(sxpKdny7uY1|Ju+(XC zG-SeTMuTQ9m{+PfQk84-8?N`P^!-}}WW*C|A;`b$l`;NG2iJ%Uv4`wy+5)wEyl5>L z-D<}@Ty(*(Fg< zymx;$DZ}b$&)?pbja^Z#f>BOLdvL=0u*a|0mwTMD;f_TYj71ykKJs4WXCWW!f|Uy{ zSby89r-?)QxT1urJu=?W`)9pZXVL){IQENAg(3}Wb z%USm#r>zJ}YNFAANgdiSWG1`L$R&@Id}PnAM1(e zjk5YW7&rct9RG6T{f2TlC0y77hWBr{E0tZ{ouoQ80*+0oUs1+4hwRxX?}{!*?r3=0 zDLiGni*gKiINaV^*IO%GGtJ568DeZ+=nJfD7%(Aa!;rb)+X#E)U`nA!3Z)>m8ljxF z!*8O|BVbe7ZK+A}|b?(6?d8%!gFk9I4nfA#7+{V#OJllApw|P8>~877va;lfem< zxociLPB+0k$VmDp#+?(U+i~ZS<4$m@9OyX1oxDXgb_sWe0aM)Rhs@kYXZ>;w%2wDp zL$qpoTHJ}lE8h-{#+0-+J9qY=O5`_Kz0;jrVdsSDcG!8`u#@M6Z?vB_vCT8YxyCQl zlZ*yTYTt$-Go7~0@Uq-$JID>~N$mZbv`ID9Ql2=v+rAYFStom?oM}{J4yv3gRZdsj z+0Kc4-7TiuVduhHLyDs^N@15uZhezy#56{(yvXxoK|wiOKEa%Rz&s+P#jt7Rz?-nq^#{b+A7-VQsDo9&2lO0|)4CK70j zwV@G9?XX8fCh_Repeg(qrJOg*_+wNUrPHkOqZqU(zpV$SGl&MXTrZ-$+3#6<)96Dc zeO_tlcWBzsDtl(S9he?BFgfcQ6~gqOx9m`IR=TN z5=tSKd@@lgP3^o5lCeU%g-rcuz_blgKV+_+Jl2^_pu`NcNQn&{wB7xWGm^$n$kd5r zA;(SV^B!)cK9sXjg0?#iTHU>WX1JXMT^Imu?A~w7!97z7q=S>eyE*y{m)``RVZbc= zRnB}o(ydl`Cq_!fOsz&zZsWxbosb-zW-G=GkjmM%gX&R8?*>g}{)Dh0@Z_hhjP3+! z;f|1IgDg?Spo7_iPFo;tVz?dB9y_GzV5dd7(%U>k7Q)=a<&%tlKVSxFg1WyH(#h36pnInb6@dv| zvf5s{gV3%VB`5awZtJV*ZZYEyNf%6}HdfZ<8Deb+V%GguTW5?A3tdjeL#9n7he0z) zDo2SN>2gxo&w5Pq_oqtEtv*jlHl^)7wdjz|mDRGb)|*5A!3wYT9s{R4P2O(3i$bH_ zo%`|`CBGN_xn?O(XQfxZQBzWsUoIyCEX2r1111elh9NWYfDvXHew>v-o_wX1pjw+WFD__>s5H1vx$cwiILA zAeY$DFkn_{%R^?u%FJqxh`EJs>=uX3-@j(ox!bG!ar}l9Z|kwG?>Js7#g%A+QCgLw z6J6u9)(;VwJ^@48Xu^vErAtGmS2-(OD0?p9eAL8t^8On(x2i^(Iz4C=r z!3Jk!>0T|3vU}^@4X)s=hPAx8 zY*z(wgnRiL&76!28@iW-a0VteJ(ccwnCeDjYtv}wwJMFRU1&mhkU^@?ph5VO9WRQ9 z?I3k^uLj{lm1(iiAiPn=ES`%O)&S9~tb1JYA6YKc>=6Pghx~W3ncD zpLz0V>s+IC^APdpGtezm+) zW_l#v{{Hqj|NQ7kL!obeX>UBBR-k)R`)r4Q4XgYesfX|zXiSFpvxfS z{c~xv$oTQ}eyCAdI3B@hYiwu^a?MR6kvLKlr4VVH?KV*hG zE*$AKqJ_~zlQt*RhS;>QX9)RB-(xiiQceC}-N$vY$WDT`ke~(Q?Ih^Jfane+C_CR~ zi3C}1mPCx>A#)PMgXSd2+q00M#@#a3WR@0VsE-YzK?hXK>xBK?rLOemORjn{5u!=%^4c_kZ@Vcy>xnZo*#{J*^| z2^~If-brl^(lt6fNNM#aJ+}6!*>)_tFf7`7R#KS`GaPclEX14n+9?F#>IDD_Vs*J# z5c>Y58e#e#r@SmKcgmZz*4hfMOO-(_IIs^g#q}w@tlNyYds!ETD_h%m=yIHq7Bg(o zMoa0{Lc{*?kZD=QFlgSiU+E)lJWO_+1__X{q8YXD*WM3Jij*tpvzqoub?>OOniYZE zMtgAJq4i3JJke}uY@^lAd~RnxM=iILp9=%2jpQf0K~1I%6Ns{2>c%hVqle2U-Dmp& zQ*d%hs3Vmc){FI(8bRuNhk#VGJ_KFYjljB*vJ$!MG{{WpoOQqcXR~9@Y0NogyB&2N zH|pf6Ae=O_3Nb09^L{D(JPepbpNAoH=gS@`R`p>M@Z7)AwQ9WG06hKC&PwXMVHd_J9$nR(YV=(w9;pnYpG}1Xuw2XI1HJeNZV+?j5{)ndc-Op z%;1cvj1e2$FLi%Wq7q?st(bVLpllIW);7`#D-PDmauUIVY%282NTF{t<3-`qE``2{ zRY#T3jaYQdtj;V&PqE5cr)}dFn(vPWOnkFp$SiVHf=bKBJ$g3^4(Ud3$=0j;7u9EU za(6-}6Kn`g$jeGdZ`6bA!2cPb(}EdyblTBr1UAZK*Jy@LCTO`-s4*HaMW=qq!qFgB zF2|1UgHHPXCt+t^xH^y|nsQER^-4r@m373P)Cne z6N^WydEMlxA*M~yvfn1WHwy}*(SVx}H5xK=_N+NleD6Y7?a$fLzvSMSrea=?n()nVb|$H{y|&yFgu}rLioAW zcsu-D8vGn>2rJxTdMy~!h?#d*(jj?2}x=u}mH7V?(Be%_0Bfd?ST?h>-LNgVVPf@1lTc4-#$8jg=R}0$f^cyo++!E*Y1;ee?eJ1OoZjkMDncS>WgA zYDZ1;WCB$@YvxEb8ZfCB8HUVxk}d~zEW2)v9ZE#39JOz>P#^-t8Z)ZoZ${UNM!Vrp z<*<;U0!7HMy3vu%RPx>}Aa&zbm%-_G3JX?W3FA~rH;F_3DenV8?4IFjN_M*;FN%`w zzTr*C(?{u3 zc8l>Y3WavP!bkGntq zOixogjz4)D#}YC{SZ<_~=1{`^*`eDDY`3tXlV-dq9NO8?eb`W)9$rl)19h?pzog(E z224Wa!;tyWu|k<;&46&DfRYg^Y^nYa_wHh=q+Sh9r7V=|)|)G9jn*RggSF0BFCS!I z>|d_F_Ou~)fVyCS+FD<0y=qi2Q_^I8_N0tkh!c$lOq)mcLuRTbA+0>pOv!9fSxSFz zP|{-B2<~LR+EFJmC-W`HgDMB-DyM$^Pq{`WE-@L88U9r{pc7Zz*XZ8Ks00!Pl3NVZ;xIgJL~grm`rSt2Z2OBREe81Vg$B5?S$6JBaDy^j203=_WRYsGM=5)MWu=_< za5{-n2FpvT%oL51c{-IAuC;~7j#8^p>ZBQWl-gNSFIJMWI7f4BrIb#p;1;@}jE7A0 zO`}0`O?P9CP$zBNhC{W@{SU%bYI>;laZIxBq%DidUWsyys}NQngw4>aZ8@!e4=b(1 zq}$B6W6}jPCwmN&8oR8y%m{swkg4W!7&H%%D}AK8&f6`0QB1gZ zzc{7U>O)OjFBWuHN(t47Mji4Gd9N==DDIfF4wG&(fo*_zv?21i!lE{v}@_IqnG#)aoj2i~c+NI?A*Z7t7 zxF+OzdvEmd)9$$^k9gC3=7!D-#S0}4`3GH&On8VA?@xJL$!XJVMVrrB)P2c~PkyF` zOxmbM`DO|*<>gFm7NXdr0h4BM!;o3!+p$8EVAh{gVw+~##_cYx;LIf6eLOCtit|vF zGV01Ux-?Z(2V2ThgxoujtVW>Q%y>}V~*ufu3)y z3{u#GZ=98;*>y#C(m5`fagX|3a3p%G&M|ne=aFb%4txt?fd!2QOteMAkXa;JDe0F( z(ZVUcK|+)rzk36cn!d+zK>B+<0FlbD{+{nuJ7twQ2%jN2Bijy1Ya!`&L++q-!5r!D zM?pz1HE1iR#F`l<$;Laaizjo`FThq!&CjmpVMFeoA~wB zi>F1m{u`m56=lOWFJD!x`(?J%zW#9i@%kUvAAfrC@y(OBWyb%n z>yO_*dH(wQ>u=t_`EdP7Ao0(Cc^1F^`pdsoq?j$(`#XktX_o(*%@DZ8s%wDn_h0_; z%ktajXw3VVa1Lh@zv9gx5J=0 z->L$ow{ObgeDnI>UVJ;eRZ|Gs`lQ`g2W(obppzx=N@ z|9^fxmEX!Qk$!LMFI{YLZF#lBJLGq3WBEOncWCPycjfh1|6SfI|0hqp81rQ@{~aGv zFDW0^UyBhPy&JttYUy*z2jQLSz16Rf|CWC!-zdL(su$I(%FpGxHh)~cx%|iao^;=l zf1qzuzeuVt^Os2UR&7gPtfOy5w^e?O^_8~%-0_X@khU7D{9pZ|Fj)DpV$bq@+j95S ziny%YUN&{H4c|_zpP4_OF6in-^k*_LuBI1atnXCsw}ox#X_kMg$@yhGP_kc4Fm4^0 za5vSw4*T>Cv=2 zZ|hAZyltc#pj*oC6mfZ(a>ek&*KYB5d~|t;sjh0CgfwmGj?2U1Ct22FnLzcv+d7F_ zEUAc9Nz0&p7Wjy_FSDuMWWu<%!$XN!!)?E6+Pbpq?1*)zc$GJ$ z*LmB!iNC)(60%e4GX*6{abFMF%4w!R&A6f{@ua8bi@*Fn{$3VVqrCi02Gf-@8(VdO7U~u@0-)o$A%8?s|3KEc@&DU*#?E zpSEtlk^UQF1jmc?eJh(OpH{hWwbQRQRnebxOuM%ojrU1&)8|5S(9 z`>R_{q_^$pgNS8Dd{#AH<;Y}}uEV#1p<>-zi8e-B%|7wzCo4LcCyL?*#A zYVq9a6Q=*Q^#33b^jf{mG+aZBxJ~rHVtrE8WvPUcrcU|j%1+6>p*dY=ah;L;{`75H zX3R8%o<;Q@Dn}}})e-ZmQ=uA?cw?O$Z31tpvnA1*>1d+YVKhB8LYKW1_XgtCzqf_7f~s=11Qx;TzGQ zNQdwJvf314rqerRL_B&g~sXbZO~lB*JFhV&CP(POReL9f+2 zugtSRAeK3S4W>;6A6^~_2uNOcOV6#t%@Dn<7UJ)ca0^{a??e7#1?YNr{Cv7s&!~;GQfTE@gID_zN_X&yBL1IjPA*kl{&`Xo zh9z>1Y8)a(IFt#_QT3wgicbl4t&fMkKDmXoP4>4*-V6C5k-VmeFad%r0!o$v=%Fzn8;4e1D1D{|=^3fWp*Min@d-y1*dX_KO@&V14ir?lVvi4n6@M z;ScR~1QLn16GFfGNgeiHLOaZzgncSigajHzW(2gcAZ$XgMYEbdh1PqbU|z%qMh5N( z*&}wq7{N$7?87yBhVTaBXY};rupn^nb?(t^(EG&1TNJGW3K`UylxVR=GH?ChHsWm) zO?TSNJAC29d?*o=*A>^l7~8~=gvcQ@+OH9np%q%A6*T4BeuB_PM|z-jS7+dDX*G0k z_9IPnvM# z^bMpj2DKDwMHHl#>AC+K3eq=p_ak$X9DEf?8=~qZy_1P_>}R#AEt(iC_CYOD5#Xnz+Eyk8~pf<^|MG4u?Drk znN&57hC>cIoa0W3@pKU?$}71vKtfoL@AJ*&ruo&cq55mHSF$O}z$0l-;l7_zSVkA- z0hOqqt08+nuMhL#Vb-scD#>ZK_s)Jz(&NuaqJ$?+i2RMWGELrvDY-ZSe_??^)u`F7 z_gOi5l?rN^yxFa%5*+i#>ucWg?sp8>T)pmDOmmCD803u51BnLCEYp<@M0BgP;8$`% zxko1W2~IISv^>E`%bJroGP3KKv+N!}qP!U*yu8971ig~Vh$$kZXlq0Tc5zu;L$6&E zgAfJ#!r>4LVC`M?wOK>ohdD8NXUWUA)qhFooWEkZC|z<7b;9u3NCpNVmlw8L;->y0 zN&-d#MA7KMkE0>oQ|ble!gbv7vSWxQsQgX8Qw>N2+<6O(MxD;Lt!o#zTN{bfc%tGg zwn=Q%@8qLXE;88C`Zl}CVjh1ld6}seeHMF$*2wBG14zWiUf#+!iYRPy7&xI^zJu1y zHWPa;w&s$msX>Z~Ls!UMJpJ;AQ;q5-?C!je_PeR}{*a;(4(4qyu3qU3jd9UJh2NHC zTj}NOpF1uU;SLVrS?;G97Q(cXY0r~fs!+=QAcY~Kz2Uy4R6kq_h8-ZYq=xe2T%q}M zxm^;8AyHoo{YvtAFt+>M1ic(v?I^k)yv4@W)pLI8h57QS;12bh0o#dNXP}HEh^}xT z7WXTHUKBzy#q~`v^wPyHLC#uMr`I5Tle~$?$QxrS`8<0NHupo|56PQ!75dw8TDME+ zdfBj4u_DRE%rN(9WQ>Rs*;p^hN95hC9vTVh;ARS?085s8wUa|Q1r({?P{J=>UD&78 zN*%0QahT&@zxHVv&V0v+<8$0z6E!`S8C0RM;7KHpx;jD4y9c^mg`r|k##kZJw(PIF zH5G#dWHpNy`j6eTX~%Rn8okc3i>vElR6BtV_mADD6T2+!&i6-F-vb;HU$6J$VXg&| ztdEzwvXhtvCPBh*`h)S8lLaPUFTMBM>!+rwn@pmPr=#9MuBxhR!Kcfa|G~Fgdk551 zEi&idR;AMG2ClQU_V*6Z59n9yvz&()LIV`b>KFkDUi6Mm zVr^wEg&wJcWccmpP>KL*ij3dpdV_es;DmWcx|@hpAwo6DN2GH_Jp#C|p~-t92!kk1 zh2q#mE2;4%u9%labE3`3K9S0=30DT>2#Pt8O5`~4+5Dzgut1mGZmMdl6fw>d`xKUl z*p3h+P+|hJHsd#2(^p(;wTecQ>4y1DO}Z&A*qdMrO}%pAHuhn*Q8K&xr+nWGwbHa; zZQv`!Ej))gOmaBqR;8;IGl+UUG?v*t`4$>8qa*r2Q^M=-avBYdgYTOY>G3KVizEU{ z9+IMI>{b}cZL} zpH#=o9QlR59)W11_*QM*Xd^I!UkQDKf(A40WJU~WB}2bz4kvkiD4~5Y9vYYk`zsmj z-q+zUxqY?TE$!F*x@cvQ2IPkq zeJTT!?*`Pv->qXF$dgl2OwVHZgf9LfpGXvd7kyA}-;H+o6`0>n7=q;3+k+S*w1irpsXQyO$;9f^sI%q#vQbugYM=C4%aXe z1PH>}imK$Hkf~Cm28k&D5S}NK&O}N2s?iJ-OvT`DV;4L|#}H(i&T>d{&f-jk5WgwB zDT4QBPV=FoR}s<8v#Om4;%qw$nZPgb_7R~hwtuMIB+xHVj1fjl zv2aEl$b6>8)W27WbJ-n?7(Yy*FssN$FJD|dRJY3r_#DT1F`1>M|z zeCBLcHL*iqLtCciC-1dH6s))dq-MBkI6JKj(4N^K(57%a^ly`sc47kK;J;(@{M@KL znREb9GxgY2$e+(HO_C?yXYl(nx(IISKTs)o`%%M4ws(HDUaJ322n!|0LnE-+W$5gU zuZTCTw&!s0FDlq8_XP7{-GnK31U_CNIP^0UwCy~pU?xV*oX-&Kyjt;C77&SqF z^g|9A-jOtgG5w5pQmlFlx^3lE3;TT*#MN*wclOU9Ys;|-lp{pdW7gtaP|Cx6`uno{ z45me5MD@Y1!Q>60s1NTXXCtBtEV+gkSk73KMb!4AUmz2722n;MqE$Y%84p=6vVppg z>?^|^a@5RuZiPrA?-aryCaK96Q~nXP9L1Tcg-H5D^m&GGa~W|HD_QegOnS!ZciA8k z_giI@>Wyv`eE1Mb9JLTn)j!)~6fiRU$zw1B=f;21N!@g+YBQ%pavoB4o>Z!j47Qp0 z9y;gDZ`Mz5PE#mlmBuQ;P%E53c1+#($?wFB-20nm`R!Or^qg1^+vm|@F~drN)#K>e zS%y~-{n(Hl)DwCYBK>1!j3k-2f*Tlu(KMZ*CSuVJ#)jn9Tw_ZDwZw;HQ$iNWd5k1B z;kequ&uZFj`SuC2nompI**}B3&yYD8e$_xwv@_K2mt_n~C@}@k;G=R|H)+XlG;DAD zvIj|mPb&9Lk&lQ9Q=$kR*rRnuhTvAvnOn88%&%`9-|oYx`6a7n816A4&tb%T9#=4+ z_GLKD90MB+R1FyL>;4rjzigg+UIxr8%W1|R7p_LfDu_7(T{>TSRG}L0{pTqX~vW`w%F(BU{q*v>YCj4vF|Ijp|K9 zM>u{u2c9)TLm)jx5#(JTkhF=SnUT$+CUa&b2wPxwO}8xB8Jmfx13F3vq{c);3+8oR zeZMRp(^YsR`A$YP?JrD>SS@Rn zjas?Cx!qWa=iHBw*Q^D9Ug4!$O>f=9CW@d zWwB^YbuGZBNCdH8lg>ZPYqq`PnBTe9dnq_Pt*4U+M&lD795B%cdexyj_^ch7dNiB+ zEG4y-JSTYUmQJ{nT<3G@%Bjq_Rb2-4lMKGO^EV{Gmzi;AnCwjw* zf4jBwa!^$U?R!%Ojr3=J;tTWbK=I0q;`j7?QOU|#&6y;`Ps;*kV_O{8195m&J~aIh z$}+k3(%Pco%RTX8UcU|V?3b+qi=>+@K5a86;Gf0b+ditWFDR}SX{Q2zKQ8agavJ#QFw6%3Oee6+^*=MRK0=KI15Fe*XkYvF3 zW&iC0Uh}4kWaHzpw*0OEd^@G$dkm$KQ{vn>hG&_{$L6m|H658fZ_yyC@YG&>ngBb7 zpX`pAq{X^?>T9=|KfOWFo_6F(_{Da?#LSzrn!JkjStubW*|%OkpbVHCDQ^dcudAVOtyUxJU9{7X8;P zG-NZI$SbTK(f93H#Bhu91nHXhktFXa`^)sZ$J_SHN%BQicD;KZzo1tl-s{~9Vi`xN zm*KLFlL^TpNXr$u@oj4YZ%se~b7QbNn_me;L1SdM>P|*b)xQ}zLuZwahy zGl=CEI1DT*g(5RC1TBjHR1mi2GjCBSxw2B2M$>G0A!cPtQ1&QgdK-7H2!wYxZ0h{5 z^JO=&OvXB?du2**YG2%YV(_XId|B$!G$U-{?)dZPf(Fd@=7r1 z>XQJ*xYGf;fhOS;?GNJ~d>9WXkOZZ(1->By(GqrrUVk4q+dr4Ni(Ks$(CxW!Ya&Y& zS2X8OMT;Xbu0x506%d%={G)8;LR4qh7T{^ACSe|x;2;C>jKb5j1mW@cP6Vim-8Tq3 z(y=+XBZpmz-fI189_h%Mo5yz_5)2vu!e8SsGcLCD-xxiiHrfRm=+g>sKFxogu*|pV z&r)!9xiJ+yiH6bX!*fN`0vo6|zq1Wzko0D~!&Rk+U|l1n<|qj2VS7~r&TLFhe0Cfe zsjcKA#jB*_;Lr_W^-NXTSf`0D+uvU=Y=gd9pEx^9>FNkTR{nASvzINLWpj+PC6Uea zwSsf`Ksv<7LQ*rE0w{=%d_wl01sU0e%1mJd8P#d_{0YtYj1dHTbDnrup6ntH^8+}a z!G~<$*j&j)pVe+PR#zfkB@w-;1&xpUn+yZXNg;3Joy%zPn0*UicGkL93 z^rxQ@^Iqll;}HU^tuFiOCcm8*%-&3qY!jcl8pXpBJj;TEua3B3`@{`|r!%)Yg% zffKu?Rm&A_^OSfYYwGzlfOq?yF&T?Mn=xu!i`Fg>Nt}2@A$M5Y&Wvv~@}Pd$rQ?SC zNj?j5UV}#_?qGq9*}Mg784o!X$`z2q^G9Xa+d}4qvV9sER%xeXQ7A_ta#DPfA#`Ha zeKK9xB1FW*v?{q=u3| zPaawBENId)L}wyfEzbpOVp-){=P50N=9oV0qIV?hRk+gHvfhQ8C?xVYApc!FRlhvZ zFd8u7aT%Dh8xI((io>;%9Xr6-WHlRgNT!NwDMh$P+P*TW61_id4_oH*lg~RWh1Rw& zhne=;na#Ay#WbEmzA+JeJi$4kQPU0TA^EmP)OMURmTblQ2#={68XU)R}nrQ=B) z-^mW`!~P`SG>aC?HMWZ4_;V2GkW=6jotFO$L?^%aF!CGI~1SMe=-kp4Kt>J9q(0UfeznYM16*#$@?_wPvPcaK0SJ!h23h!_8KZM73 zU)#SQa6;wpO<+m}zWsm>h#Z02; z66b0E_h2_b<`_&EuaRk_Z1?T{ye(Fn`pg4Gtok&=J%#$#F+Ot!rj>cty-n4O4(zrj ziDODlQOIckVe~v&4A%>3T8uBb)&Gn;j`isrioEQu^*A&3EzR6G43zw1O46vJ7FE9c zWgFO@tf$lY==S#9O64vr=z9%xSV6ug=CO9nvTZ_*)0J^|7G_5m6+z8UmbC#1$!AFZ z*C*?eHL9k-qKPwi0i-ktC71I%7*bZVPkD1|VRI|fuvu!+Ojovv*(M#ZRt<}Zof3~@ z7V&4@>4Wgp?u@v_ zJ6tBN;xDGNkgQn9ukvQIsk!M;TCIW4m#GA5d?_)Do~z1z-Vv#b|EyOY|e zdDm`av%wIdd4c&@t?&d#dK$t;_9R?q+GJ=Oh$2d>ISrd!aO+iNXnhA7!4jMgAz)J* zag|970$Y!JjZ)U36`QSrOpMsl0>7aG*1&BtK)1uHypG=h#{stEW{`gA$6ReRE#QRu zB~Pi!SdnwY_d9KdawT_PIA{O5PW~K8eMikG%7+dKn#jqbgwbE|I!Ah<**b7EpW`5O zX4SM-B9J4QsCY`EMx1G$h?;_c%c|<9X)vM;$1*Uv{}%vwK)ey;NAA{$SKlTIW@=NN zBDpIITc+B&9Bw{qWORq%g=;X~bE{14!r$nqtM6wOwc{o%t-}j5I{6PV;T#2I=8u_o z$t3`_=7*B$;E^PAvy1;D!@qrtT&^djbEI~&)#G)xe?NPVy^0$%e4MFAzEhm-v7|e0 zPFMu+lj}Mzh1SI_?565xrq2uPxufqY|7_d3hF`sf+z(HSBp*cv1#mP<5FG6#eX7a! z5ONhF==`VM-KG+Z9n*rLOP$y~M{=#;PK6_^OT3-YoBVIhJO<90aV4EqLTQi>`KC+G zfO3F~?TcI%2^r+AG6*~sdqlI*o0BT?t%3JX%=Ojv7iHT2J~Z zv!&i`RT29yWt_#tefr#Vt*FM{@u048@jn!84I?WpmQ0MfahyzVnPQ|bapY`sx8GA-Ig%^F zF~uLCkrl(oNeb_j5ZS*ChLzi*R6%H1opGdStudnxuGI?9WkjgS!XACHvk+UvXs`fp zigTQpcwf|u$4gge@7u64;a9ZL-Cdv}n|FA;U%hZ`?Co7`AHbxqjJdGrJEF$xB5hiq zU6uZrBrCz&HeaLO>ru|0n2LqpkAxZD9$0$09+lqC5$BbLqsb$<8N5qvFv}#>pJX9x?41>Ye_Di0iRn!^qVYsm&rR~V^sJeRB zGzkWrGKJ24EuuC|%t2mC%*tCP$(SbtMS=n}jG2oW8fTIbyW?$c3uU1UihWd4u~WCf zxyH?}l(9&Vro&WJtF?n)=aTS)?1S-xs{e_1cf?ngV|jklHmY;n>&tyr4fnhkeIV}u z&JU43Bb5HBl3z`Ph3x{=UP;Xya?iHtj4_pY?vN*+v9LPOU<;F@ei(>Q-LPGLX-TWf z5O_bGzT7?F23r``NI+2~Gaz@YLhckD+EWE;=y)hjP-1YWQyYh34G^nR+pey+zV`i+ zr;=?PRA+=TY9v0uN}#v${>-{(a?$g71ZW5&v>{|{sgWq7K5=M0cE9m_VNxUY7~*r8 zKeLjhemb&8AU|jtTA2=4`V@Y?;+yb`CC|9vA)_T9xT0{>~n{^Vx`lhrxWnlO(V0H*mh zQeXJ(_xC>-Wp9OTQW3@EcJj0D^SVpZ!y6vX)vN(#imf|Nk*lk=O^ChOnH%Mz8K*)x z&}&$~%9WQr+czZujm|O*s>puGs8ronHKa4lk4(*qzwzFHHxWac+D`9B)?qOue zXlfleL79b!5b;q{>#Wdij&=WrPQ_ZQvCfE)Q{1Ehv15aBtV1u)iptk!m6wgVr6Z$| z=D#`4b@{_dj&@7Npfo;tb{>y&8>5O}GT_N8N4poYn`#-w(E}?x{)c-c8q0PDu_%uG zNLD%1D_9d*YMXi26rQv^0fSm1Q(~&IU7Ahn8Ck8}M9%FVE<}DFzzjrlY%nC-S{5ZZ zT_PQE8g2*okKGJ-5%@DslQS8bBvKwoSQpa#*f)huqqtrJKK}20VLwwV+F|Jne3Jt_ ztJH&`S}#|2qV*Id6BQ}2@Wow!r?l8$-w3yB`d_l>_XhI z)p+wjnDB>Z7XzRd>Jxf1!xedazXC#^9Zi0PH*S8?VY=mi>%$!*VkcS58~_P zZZGqRe0hjtb|rhwPJc7Vtm&#>A3Sgam$6{0#vI%9wJE1~$BN3n_vZw)%;b1n?^*_& zi%i)VTgmCFWn!jJ@z*L6CDzI(;$5;2<4AbV;hiZ=1zVQoe*Fm}GY%~Uz8YOAp^${t zv2P~azl0g~{{)lGXiqbngKb&cSx%P5vCz*|h1+>om1CfQNvR^7cqt`Q>?C`k>-)Oy z@gt8kRa9gC2!&YUPAqHwu#i(7=G%luB45fmTJCUe3(_xks})Bb)2`rME6<>)hLnNTDhvlx+3BHgGM z5z3+*1i2i@mQh$RpIzt_5qxU!Ekl6nZf(yv%jIs3LUBVb(a}|Tqe39%Ub4*U=fACz z%q{Cfl=XD$11_8%JMbcrHhz18C+`|j2JE=J?Tvd}m7VIh2}M!TpE&5v4y&k{<6D)1 zaLSr=*E3i`Ph+FRtEI8oFe+;5XNKxyMuI2HL_uF362NS&@N_+%Ru$>Q)_)Gf#o>yR z^4RmqX6o;m&9f{JqI5PE$V%AIzBHtjG`lJr-%KK0ksapIg93}NlDJw)FW~;J8rBi1 zFb4j$?!zL9q&st_irp4*v2W8>+yklu0yLl`7lz1$Wk}ZM(zU$~15a8xzOlqK;4y5& zr)Kdm1@i4iEovO>Redb+Q5QVb$E9e|yRx{|Enuwniy(+)Z_lZw;?&b1k70-Yhk6zP z)Dz_EO(}4qF;@S!mzlG-9#YftN{QpD|iNG_n5HZ#F6BDWS1!?@g6omlKDx8ae|Il;#;>3aOD16FUA5DdKi`?rjG8F5%)eEf2oUXZ;xy3Ef z@XjsqAg?jq+DaEEGy^1g0bv}7a=J{QM#5pZHN$!$ga6tBWuUB!S7sU!o}y`(>og;e zKt35}H6F6&WW8Hc`O1%{RO{|^wu128VAUy`;aM5TjJjsACap7cGVnPbe<0Q^7Up?^ zzis0d!gT3UJKM;Dh+^TFB6x@7(af&Icr{Pa=32H?mP*O^(sFB4vDt=L>gGc7V?bTI z!j6=d2tqho4K9h`4Y<~;PBp^H!UX;Bc=)m8lX@tFV+5G zcd|T+Jlkm6yR7Od%w)A0H%?cj01jyz!*XRUitznF{cIGSO3x4_J8Gr&;fx!1Q>wMX zt2UfpVE!izY*f-xM*|o7@0oZ4^j$*$+W+(isMAS??aP}>vcEUw^=o-AFxP1^sBkL- zS*O#+rfve*Y2m1L_gLcUx`r#nJw+ppVG{@jnUe;V=fRqjG)(Q9#*{l`Gx4|~LXKe- zR|Zc7=tnnBt7v(d{{1?i1}kizNk$-w7Q?+wHH1q8aMs#i=~2?6`Ik)1U9`q0r`#2uu9e@t|@2t)KEVYhoO%@^=iiJks@eMUv#jz zK`|{5j3*V1n5lzO#>|+M)B)}+A*ox}>EGFqQZgwSA|G7ZwRXWdDpzIBw0ShnAI=+J z#($u1LD}qeFUt;=&wzevY|}Oo*qG7d_)`Yr%Gi^qedDHCdkRRHF|WL%gaUL_^gz>* zyXeG*sJ~@Jg@Uff-L2$;mKF?_{oB^YAi{(KCP!F&(o>h!E-9oa6#_<#nIVDSX7B%(Amd%+n;&CTo z#a>M_g;&rOm_J#agfr<=ucUeZj?7y^S9L$%%??)|J4a8=XPmV$^%SK)sNFIx!~BL% zl{UGkaoY52`rw0s$c7!C^*68s7Vqd+&oc7auj2Au`LTU@BJ9mir^wii%`%?8L5Prl z9Ghh%t|cT^3yq#AF8np3yR7e%z@$ZWT76D=#==l0!aa#&FBK}?LTRBI zeT{Zq@o1WSloflFRlS5l6@w`cJX&*qcNW-qz&^CG;?pH;#KVx>YGXFBVi(qsk^9?3 zT~1ee^81|-BvYcJP+&lE5usmg@7R>&s73x6w<8&M9S3;3K@t3q#_me<-?lQt_i<)@ z6Mz5Uv08H%*7LaOT5aGh~8(1HB-(<~7)L5a4IQjl9>FRU^nyBF!a!^M z1@or5WD5Cd_<*yqy*PjP{T}*888#yb>0pSNPj-UF2wxegPdGmfN-RvLQWFpRtn2$vU`2lnQyT=Nu#t;sNmijQ> zHm&VlHz}7|a6;i#o`9rAgcnIk==scUKy>;k`tM<|?0~+oqX7&hI~#U^Lp}s1Ge9!$ zG>zEu%q?XKp&y*j+Ef-y1T`L$w*QGzIli70CBjd)=v(?X&X9VFo;#e!L&A_Ysh#qJ zYI;olu!b3*StuTOh-uU>;-gDBNODmtXt~G_RYCLP&&y(0@@Z)cXg`Hb4u<~@9E6l- z)TD;#5YJ|OBXTO6B1T`-=5!|et|1E>R%}45sx)HWI%xo!z_4i0o~!}f5}+wyQ)Y)E z#a?jN$ZSjtrsood`j(#&g)>?Yv1q>2j&WVFmu=W2Bd)c=gEm}>b=0IGqihY-|Nl)@ z-h2d&=c#@!nzk65=SP|xudc!yaym^C85e+`#+DLzcS-86EK!>Xhv~98m%thTKz1;3w3n8ts5Z>!*mfs=UO83K zvft9}66&6T*6V06V$95joifI(zr0^d!YVi>`vMHjK@|!eDp5C<*^=ygxK91ZF@ZO< zDwMuxj0qG-E)1){Vv`EBmG*qZ?u79#U@%wrkVZ*AG+luDaS4!^;Wxr;j6y3Nv`5~L zfmEp%T>aDMG*grr^J!*d7vwH;hd-U5 zKEWoocOmjIoN0527e_UED#Tz}i_WN@WMp9DB`yRw8%ULd@L8jvQ3Lk)f;*cXW`BTCxpDm#>KKG7Fj_$tErMNtSx2F9iJ5WuG`m)kyge#%m4HR;bHW@WOrpzz z4aGfFMFo6ayhT9O8YfP*87^~omcbB~XTsdJBolsV;<7`EP_yq;g6%w4KKcbzw8oe1 zk>vHI#w%E+Yy9g%nGY1Mh~pit$j1Ef!klr=yI(wZ^O|f7&O<5%aRxOwKw0^_3j~xH ziY`mOuNcy*>0lP+k)gQKigIBg%O2ES zV7OHhol&~!4~ko|kIjaM_v_c(y6R-DsQb{@TtqXbl~*#O z!~_FuuVE&F($mkLKo1Ia0uD$<3$MfeA7%#;ivWwhx4K=;@`*pA7~(mq;q;>W=@N`gv{csyKieWSrwxr^<*o(Ay*Rt26dxNtb3O;3F>%$E3!XLSOd4BX@ZR%cHEkH?;gqVj0)7=n59sJqbkuE*R*0|g=g9~q*u3_0rx$-`JCifgHf^3}2s;H*9pcuQ zjpqxsr56Z?#Y2#xqw%c3UDmT6LREN9m-~NjX{kB7LtaIyIZycmV+_YF@^x^Nm%IxT z)psJNdRAyWhnZetHTnpx0KBo3YcOUgr#$1~ZRznZ)H)v@ zq$!#_;NXM3n~HaaUXwxOZcDC^h3ui$=!D?z)@8X%Q^5O*G?ahg`y4;-!g0OWB;5U@ z`e$nMlD(qxMav0Aiery<44e()YH_W^)Bt0yTq-nX361nxP#}jM@6m=|gqcsmoJ2`f z)A)0A7M?O#Q6PsZ>=F}Vd&g>*j8`$6o87C&4QF5SO;%_tBzd-jy*ZT_2>ocjI^ke@ zuRv4y@&xfNZT{^P$TzuN7c@mTkYBPoU{3BacvVuol9AX-(qM*21nwU>J<0ON(Dqld zwr2I3_kSX5$0rN4k2e>Zmf52^eXaEQ`Bjdg1_BL!qWsJybaRf4LfZelR!|pcD!+7s zZZH-kVG>PDPu26srARgaeqgd7B>+j!6Vv#)>>wO(>(v1jZ!Zd;_c{D^Gzn^!J=TG0 z!lJ!?ALa>12?*6@xz>zYx7LAU zy?GlUmTL3*PmOz9EnvO>vz3c2TB%2PJh>Ra{veX6CHH8a&l$1bo>3A73g@?NX)dh} zTk2kWGBNp4=TzCvtgpEWAmF`%zy`zigo&(NtnNxd^Yg~SX}<6EPfHr(72>VTUhaL? z`=8PFkf?GFs|DPN)=fs3&`l?wW=zoTbHrv6fUJmJCP7f%s%1Tq5+k%yBeZ$_9D@0J^zX*&4PHUqRoCBM)aM3*9U#gqh~#>};Dfab(y3V~8I-w)~Vd z1E)q2j`o1MhhM{+Kxd*s*kJNI;b#x8om@Uj&od>p9WiB|*D}=f8D$%@*V2q+Am_Dt zvK&ovOiAK=sRk`gCn5e3_6VXlWRb)y;5ydfEPSwBQn&`&9M$q9wya9g){#-NCHZhy z$PH;FPWK4PB0WF#vQV8m8~8bLhPt~g<=Mog@FEvoDpU0nYCkT+*Iv%m`BkFcOIB*) z>FtoYDvva?1sc6R+mFGcpA!e{`--`Ou2lrjFP5v{Gq6}RB7bBFp2Ry zjBxmySCUB~7^sE4<2b_Z1>E>c=!jI5l6wW1mL7o_ssbW`n%pb~Kq?RvVer^+%#ZGh zpP%Iwto|Y9$%1l8BoaE24;tRjXmJhdJ`Pd4hh&%h7a{f}XCLdwUHDqi_?B>~Q8W?D z=IZ0^sdcbr)w|-S{Eple0Q`mONH-R|ll6*+qJL$}kdZN6e5P0{H__BPRM<7Nck3QE?DI4*L5gVLUO({l*y#Sc<`|rc5E4F8;PGOB4uQ+MM%~zwaY53N^Ord0(jH zBWTQ~gxTefg04rV{4DTX1&v`qWYjfqpzden7AqG1uX~K#Y-e^p5sqI&4-W1yye7{# zGakUW50keXdi)=cZ|N7;$8J|rulbm!t+?eaAyP~*cAWnt!5r=o#}-5VEvF(}GEb)f zYA~P!hGMI3cKxiYk{8}}5O!mDBdp`c0h!l5SF!m=`sIJ50qH`e#R$BZ=U|ywIgdrH z#IA^ri=joCse)%&L)}ar-ROz9ddni0Aug*8Aq!HPbIFxj1?stcL%ZuVtR4LM^)~gO z!*Wi4?(0_qirKwPS9{8HhiPM+ULE4r?D{VX*PNB*Hm3NSum3Cpwcy5q>&vAvyZJiN zV)LH#xr6=|wN>W94mP#j!pkF*u*kgP!|6Mwa3D=rh( zr@d39(ZU@x;AU73#HuCzuq?PgahG-cDF0)jW|nA6%N=N^I;6WLU)fiu)+B6cAQA!MOHC<;uM2k#yN7Bq$3`mLOyAZ3{(dmlP! zT+G5{9_gY?yD$d4f&YCQUUwTx7yw8kqLD=1%2{k(j^5NnO|z`_--DrSq7Hp$afHdq zad35&Em2dP#t&Uzp0ZIv_p4o5bK*csDVs#L-A3C7Kf~SY$>4)v2R-SHBM0FCR4O?} z(dcJVWXK}q5MZFf{$prm6aD+hOWrXAO>aD*=7Mo3K|>;%WwWhOzG3bJ>3Hf0yn-_2 zLxQK6g^dnz8A{$EG%HsEsvOeeu;dJb_{#4SHrUE+xvcz*8iOK8`a~zqVbd+N;H%hD zzW<~TpEWJgk)JbONKOrR1C=TeIS3AJ2Gh4y9|ttwz9SY1xPNrS!>l4OWw$)r3HonU z=I*yOXJ*fHCoClX5T^GVHy@&(T}9OleIB|imV|fz@Zm5;P^ZEhE7eU--goo%zt4#o zK3j&^GbHd2w-B1m15|N=?`E~fKsP|7KwS*VpIHk4g|%tGSl88=4&vRWM=tLYpwCS6+O*@nmp3%&Lw zdhNtH3=ms+fc3hXFdi5YyDC9H_R=>+>|vRLzSyE-kObtaV0((Lno8uLe|{SHC;kNg z>FHENss@dSn6VRHu-6ao8IEd|^_d#4gc}0Bocvx3mHQmYZ|5f@c;kd+!TITxzZF(2 zJ44{3yrWPN55li3z3nMoSMs?_0a zuT^5)TM%sATV!?Ono(?{ciSV>4TS~W*}t0~=lX*D;l0^~pf7Gf#v5G5gNl0k;xAt4 zDJlT3t6mqPZ;QngxY=9I74${!NT_C$75L{CPu+=_j){#R_n9o;AItm1>d9#j9HE^g zVn%TU+h7E^UA_%{_Er*LR5QVK&aWZ(DDG`!f_YaMAmf^Un}(dn@r)~cYrdNPqTIn_)k%1Axd4R zFRfjm6m{uSN)Cu!gmuINu(io(qBD$XZoo~2-#3x?N$QtGt)fYy@2jt;KhlclUScMy z^aP(`e@eB-ypB*A@KDLRv3xy{-S;j>--LAmF0hbC@MTgH?AQ94fAQUR0@&VjA*PCd zRoONy^^;B*xmIy5AWP2C&mwc{EW0p@Sv^C{n9Bill(x8K4cR?t92SreSz9p9yg*8W z5?yyrQK>Oi6;T=0Zln}O_$?YEy5rlSUQjAk@5?h29e+ymrc#A#_$30f2s#d=v=-%l z(a}4|K6NR#)<2f0@>A0^v!Jl zj9b;fBT}Rk%yel1af%#o@I zc#|?UEWQ5k*2T2N9jcP^Lj=dG4*O=%Ugmvpr|T)>xs3&@V1+Mz6@dXxOf!(2?SexB z%m>%kZQ+KS*=E1BFhI|}sbwUGj7Ai|jpEYy}TF58-9) zF32psVPr)Hk1fgwn!60eV*t{@6t-p&Q%IDZV)TsD+g$@SN;#c$ z5ZM@~%~+TZrDvasCu$1+?zN=SzT+vx4p=dk-KMIgozx<^*_ugm`5R+0Wf4e4X!=*! z=#+m!J_e2!?GMgoK{H9NbmTips)=}Cb&O<%FA6+1fO6@ZC!fjbr?8w_D%Ky3>NNG^ zjN|@@>_{n(-+N<&dKUv%ruX-d`N3!x zfki&z!rD)Fd<}Io9~!VA8eUu$`8SVWHwhc zM3w~rGqnK8BB@6C0n?)n-d{M6?uySxGPScnb8rl|NQ-f%j_E-}W{lr(U*MMMWq)tW z>$6FH%T`=gJAy72YxtQ5g*b9Vi+WrBqEKGPZ_$D180V6BwuUh#XMX$n^PX=~?Wors zl9&A(mPdlx@)7b@5?h9$piN3k`$=a~$5=dYGfPi85k^7^U6Kb| z-ycLweN+_50!PCf-IPFs4x)?)|Ath zUe`Lbryh1FMQq&&8?ERw={5)DXv5`Le`S>Cof`A3=RT@?shzy{1(K+!08$D~oQ7t8 zXSg1AHS^MV=gO>IUsbEja@_ZwSH6`()@t(C^jGoORFhHH^IJX7HGmo{xX1cqis zOE??e(3WMp-)}4x>D63F0(#|Bt2;k$Eq`ADkW3JxBP7M zh*)bRpM{(s(RN9DF8Nx8K02PmOkf%s*iz#s35b?O0gV9Ka5}QVhHT+^w#c6{tK44D zw=A`G&t?p{^@ga}Ytpn+ie~Y%tU2ni4pU|-1ZEhfrD|1{jfk3SdRFeJqnyF~yJYb$TJ{e_E*VCGHXicu>(S*u^4 z8N?@#Z5Whj>64K9WnHT?=Y#|~h4$AASshmW50|I0z6#;heI(&k(}+Womx^C`wb;sb%3O$lG1_&tYiDX5xH>uBzgQpD?WBH=EcGy-q z>3jHx@5iN$l{^Z__15Ql(#FNeCGx{R2GS4{VYwPrZ)lGioN?TQx7!ts8>U>SThOSN z=vBL|Q+nVhqJlO@&4*M=0O>gk_RONGx7q5L*Le)Bhx6}kb+E1fopX{TUF4r{%um%l z^x4n$eep@HDQ=?^GgW)tCL!mO?0?b8#td6iz1*mhP!oXs+Ly-59J~%Uik>7egV|vl zk(%pz76(~PBf1#vGOms5)W`^!fi3^6d{0Kc$=I2-9ZZ>X{PNssY|!;*v@X=^78>;ig2qArxu`( zjQq%NRRkfi&N7?8a`_C)Ap_E#iiG??$ego(1jh%JQ)rH<_u@KT74VbW)VaQznpIxaV=gEsL zYC1V>dV432X?4-FXa@4%Tv=j_M1#6CW>K1lMx|^qfF+oqDCcm8VWa)gP(SV6`cNj9`HPQvM z!H+tFJU6VC=Za8#08LV{aAl;I+IfG-Ka>OD_F8~tM7iB+djjcFAmwP&77>=}j+Bx< zdpHwF$uFByEHsCd(SS+a(J*9wIHR#g&P!9G88xD7!j?iuF~yBL6*{ih$c&`!UN%bE zgEu~VjysLHtukP0uARVK2-<8*SG&C0-4tq^4Pr^g+h2SWX8Ox#WdU9^&4x~MXE;(? zu0B#)y%mxcgUX9R2&?ns%Rhvm)qbG#a!TnIlkFICAsDhTp_He9HOBY}jCd(^-d`4i zyQ2Y< zzpm7z>S#V>qL&#B`nj6HWD<1-Pim5uIc=@?uESML-wlXNHiL76NpAbW~ps!gk8iTt&Q4% zL*@)PWLCGm6X9((nnFs&3QSongR)>kLEY2bVa#d_0>k z)MEqJIYajuySn>~e5WK;_sA>ZtrSL=BY(VA<&c&gX_m_sZZ+D4d0CH_^~j@fWw}@q z`IqIDZC>RXJ8f|nq zl%GOg9S<~9wLZ>pmIV1N2D~sPb5G-54A^X~zYN8P(X)QP`E{LXgj;HGH5xJjo6(@z zNsn5aGjxxztGh?Iw_GRau7nc8=9|qAGT%i; z)E!M0^*6VeY)6v|L6eR0n>-gXt(`?=gi?*vYRO3&227h<^+V=iViV;0awj?E6?ft$ zt93O(y%YMW8jf*SSEd|A>y0`X?Y%N?KM3+zj(d&ec5Jy2Y}uOHHW?>W@KY7BDU-x4 zY5PV4CUsB4kXg95QBK+o;Bx<-G*+xWR!O|mnp*B>Y%IAeotH~#yi?kwKg@Fp^`PBSC(iMZ>9I<~pc!3hY&cR$8McI2 z)EU}9Oiw^Kfi$LX4=2o3DAZmx;t*6(+_(p-+56cU%&kV-$;+jnjX6qQ%z|nrDBl>P zrV-uzvJbvlXwo?vFiBMpLuM6FS~|BO%5nxkvFiavRT+l_voCF!l(nJsV{+R19Z`2O%LEs`+_lqF{uR!2Msn9akg}fX{Y_qr8JmL48Hrq~9E(Az6dOn3e zDC7OK10J2nCc}d7GafR@3XKL$fyLNz=E)*cF*a=Jw|Ry(Gt=`Ajzf+q1YaIFpIVlW z4#B#nEFUA3%Uc~H7uYL3Df9f4qHk)jBi7o_CHn(}u#@OuEOcAAK zlU-Ok7G*SK+U8*xG>^H6BTPm%c1y}=>iFErd0MZ^y>XzBmOi@xdF9xW;8rT^p_kiF zVOlcU4mTG9H=9pk(oLg{pC3t^S&9+TEx^ra$n+GZVbDzSq8g(&)Ev1pG;MI}n>L6{ z^A8erc|u$T8#1-`;Sik8NNwy6EQ>LjHFn#vW{cJ3gv1K3F2TwXNh zEJwZFYP3fbh`DT~ojeLQc?Qf6sFg))V!{+`WNF52>_Xd^(SWJUt{*b1n>N92IiL0n z%^1w;W(@wVl$2c++6nC&dB{H)XWib2;aEcYguxyWkX$xv*_x9s=Z7jWi@%ie9N`!G zy^ID-+@WE}jI~JbmU~bM-8i#>w74^1j9-s2@1$l8M`I@-WwK}9bPKD_F-zw@bB}*oZ z*&*e&?9r0Rc0johK-ruv5je#n!1dJOtVMBpoM(2GIEi@WDFV_W#+dY zevvkq;pBo$jnvR>GkaXB|3&0KZ6QHZthp0jtuMZQ+ZPXCiN+Y=oUUpRCo;_1%X7BQ zQXzS((H@b*b=i@djWv>@w0ddO?EJUVchz_u7LKnS51DFchCwsT3SJyNyh+6c z!ikf^<&%o0e!vWBgwIaY28ZhmbxUeXe{ciuL7I|uE3-q|%=cvJKilkJve{%il3WOq zY<0M#p>lyKd6A}sc$a$HjfYIg%V^LHQM?ghO9#GJt?vS$GW_u9lLNI09Vc0@9QffUT223Nu{gAnA##+6ljl&u038oD< zPefSsJ3-wD^p$k3^kuV${DXIPudY54U%AC(JD6Mum!ZC}$d88kn3TSbLkv z9ub&acBpn+wPT$ME=-e4bz(@jAm|+pm|)2;WY%BGYp+&giE8fO#oINjyLijDEai|z zsiTF@3qxq3vfFlntufDX+|ey2dqh}r*~Db)VMlo;6r0T49O=AQi*8OoVCv@dLuP{A zOj!H|FXs$mx@qP0siq9V&>kDg#wr_o2&Gsv*bB_)oQ0O0G}t2w!S1AFRAuBEBf<(sDHSgt;CO&$(=D682~$ z*DeqpTV}xomwcHMb4=n(Z{iVOJWDNGDVEO;FpbyE2z|;K^y?AEo)hrwhE1hxDEq2o!4Vj8shC#C)R65h6Em`O@ z)Fs)~bxHc2GSq88Ux{)wyOg4wq}(*2RB7(v-X%=A-DtaSbs?y7G!fnCn_@0{X46Uf##QoBD3C=u3iu0fUc>NzQU;Xst-#<-Z;|b$k z7~tH~uonYAmmav8RwmvBeZuNAxOzJ@r`3&-#;b$Q49+^U2ZtBC`JOb`9<;d-_iAG& zU!7egX{UXBwNyfxg=5-=%Wq=MFkpr@$~EB_yHReFCv}G6B)_^i$-ET^Nf-)r2AyY) zYE+}c1En}WH^kg#vI`?Nj~8S%9(N+W%zv2`JC=!Io2A1}h5-{VY8bL`7-aU@k972H zyxV{?;S4&Quv&*>O6ZeM3GzaD>9a48f704#UbiF7vZn7gqwQGpII+ezz6rjWg^Tm+ z&ScML0c}P@CU7$vGz%9SFE(g|rxDycg=SXwnz}`(wx6uDS=+attaK@1m|fdQ6`How+33(NQvDzwk2*C=W!yX!5PDb5o zv`2(0m+ei7qxF_zvEDM|+2FO9v7hRH$;CpcVZ^k_<}ha7SjL-W@r~5BX||A)rv9JCL@X}3eo@%Ea>47S6}g}}_l&YIaPGMRHsKt{XlecPohRDby- z3)K&pONK?W+;_aR!P=693TM#Rgw@Brxzg=T9Qu}T?#gBuwc7cEE#E2gw>?0-gfr_5 zw+D4D1aG!B57#bODdmjT=ujjPaw#V@8ZvDpF$`LAmRz%}woy8WEeB0bouE4*&-&vE z!XQu!S3)}5lfAna8Ym zo)SWZ1e9}3uA29266|&2;>>2qyVhcYxL;7e6Q73xpHRxO`n=4(K>r1N-T3VmM z((kdC#h!Y%m~4-}TnNO-<|xKAi{Td`r4BRAj222r?H5i`8V#64V1^;H4xP?;vwZZM z^>RJVs3`@x6OCD&PzrBl<@A}-3u}T5Hcy?9iJBLehcf3#QJ*&0Bf^-=PEQ|ogPO3I zp2l35dP0~P3%<}WVB!r8LuOIlvX$A@4$-XX<{gkE1iKbVZWQ1M9h5eC_w~}43q+E$ zS1ip8_K1+=vf0Ykilx%TL53+;QKc))!nsMqOmX9$wZL%F>E(BvX9%EpH5_*1k zwGpL*_fk)*(SVyUGa51@GDbB)u6Ku~HH&va6M4r2mXr}rUh)A;XR5D0X|g>>bRlT6 z^?;>36};MVz*0Y8^#M!LXubY`C3pV=mNJ&C_I&g^>HD%6Rlb_a`>aq>WG>(As{bRk zM7J4jXD1heCtGWYlyt^W8t0~NB@+sfy_bb>?P$nUy)q1%odBt2)8%9(m;o;2AbVknoL{@GYX?S*Wl4b#@(zIZjx zEM%BR114SVh9NV5Cy%k~50tfMIBzLT52ZccF4NbgAt>7Dr1jbcdB|)_Dit0moP64z znYUW-!qDYsYMlAtux4ZY)+rP0yb#(ctBh3((*Dtan^-d%GGi{@HGVOMYo*$tW^v*S zK^MI`=n~#3L=Zye{H1Y{^|q+grS|d?mHlT?wA^a63j?0V3pHC+Em|~6<(V*bl(Z-( z70c!GX!{}4I-+6FTtKM0mIK zl~o+7l-cRB#+1ggHiX7r9%(sCboVx!JtEF>*-)}MxLcw$ZiXeQaV25A6x!_v%)0UN zkeS3qNV7ik?Bp4;MS69%$n-%TGs2{4nFLC6K?O^y|M)_?6{HrmEIZ{^)Ma`26OG@d_ecs zKpQY-09Q3^!2bIQ=1VG)N{Lyzhh;O41+dHWSH4BprY8FNX)I_o%siDQ?^O|vSza|U#_uIrS_>=urT`>{wj zP{gh4#%(%nph_pG0;|~-sAg9fypy7@KeENijw^lr3xh1XGMf~8i~_^{4qW;Cl2?m{ zcJD?5zULi*PiZ)kMPy=UKTn|8AD|qvT6)uIF9axkx2wQv?Faa0EdYgGpwzgQ0Sa57 z>>^i4%EBNUZk|obsl#Azu>G|kI-r#7cbAg=eba?M0Yr&}corxMF#>lQ@$ zbXD09Wp`EiJnC{)CQ{O*JEfCyn%nlHMP+?D=z+@yMd<`h8pnZ@1ED~UChDF2K~3Ct zVUX37XOm(a2snfW#5l&O*_gay=Op1-OMlCfYQclv1`yE1`jwe7an0v}Av|`1+QG zQ$oEom;_V0ifC7Zm{gM{8!j8vq!To0U1*3d={G`ND^7|i#zAU$vNXvXP-df|T+F=Lv=^2XV~2T`BU)9q zo%TXV(|4;%>y&bIE~I0S6Pjp0QDm-)9?T}W?7?hQtR-^@4U@`zK)xl{oqG@=y)$3v zKC%L8N<^lsAVM83IXtBMZNp_RlyB)9P#Pnoq}63Fm?C{^-zW7zt_UA2O|q2B!l)Q8 zR0>$-FLoBswX4gjkLX)g2?ck+7-HUP_qdb)s(A+f6ate=c}u(Cv;(?7Hgi-b|6`}U z5S!^cZffl04Ny^!z2%Ic7uLIAym#tx|&;eOs*qsID zca&=c0RB9^t9Eq6Uf3vOG2)tX|3jC(5Xb2oW?F+LkO(BP$O1!fDRozqqg(-O8PV%?#q%r72w>h}Hk;Uv3~uv&#mebb=`DgUvo^3KR|g7FN5! zQfbCrniPZ0ccXG@$S`Ps16|0sqCOQ4?Vdy2SZjfuA<7qQ0>Kvwg_`m(t`Sk(H$#*^ zEw#WLT=H+zpqFc&HPs zfmN`9SX;H~5^6xM^MsC-RiH$gg+W$AnoV+?iP5vK;tYdF-;&8aU}zEdOX0pDUM1&$ zIT?sL`|D0f!QRhfIG`RRJ@(i@nNCoqF-AfFB`qq|s8P7WX6D;7h`AdS@ln#}4^@b< zf0d!eek$V+NW|n4yE_vx9D~}pdW-}2}aoGTw*8~}5M=olSh+!aOycH_5 zFvt=yvq`D40FE2l>vDyJrvjthQvvY}Zy5#fNrWEkfCM0+5f-ftGd^(GK$1?7q%{F^ zJqvmM<$5wI>6h7{s5#$E%I+5PdIOTk0V$ST?D9d11>b?Mnu~by(cZCwFo|;l07C() zo@Ci{+CY>}5ap8atfpD81}Wl_{ISa$<}57stg#|1w=nn!DGQUL^*?ajFMS*EfF_oF zeBc41$Q#hLnN&`QUgDHwX$CW?W61+|4HW4GMPwC4q}FwdWxKzoGf~3F?ba-?x!znx zHIBJn2vTt^*^^u>;i-7%xdbgmB(D>r#350+BR!k@YoJOesM44>vB1T}yw*$_0#uq; z?l*q~miz66jvNa%biv^PLqU0O?gLRui~cXKSUp9DoVt%hf%|J%IYf_g-CHlzsnR!e zG)hr&ItCeXBrV8FJafA>lTEnZTo4kmKiLl(xo*l+tYf$OB)wxyj{%(^Dv8S00^xD2-Q^)f=W_O$y2Q{L>5oAJ!1=#Toqw9DpDgxTk0}T#4fZ% zIJtt#Q&_Wmn9wId5xQ=wP{3#u2`9TEWDOmn%@M7&+fI8Syy?5OwsF0Ox^xt{=&ZHx zJ!q)G&B7#un}tyhHyDIqKYt0I4|~AvU&*}80)PbeYQIWFBIpoM4$qsE9(y4)>6^W@ z4ikn*Tr`|O^|T{Wan=ztn=-v72U4swxILL&7biaoA&KZ2QT zx$K3Iq;FpGL>!csS(fT>L8FJ76y?&Sh=cA%IiduMoa&k?&2i8Hl^)(*>GAj7T1M%e zFcXWU1f(bDf{b#{%9_Isr;VCVCwS8s2RVy5q7m5~ZtU$Z_D3~cm4!(LHw&X8?IHpV zaS$CKMw$1?J=D;KpAoOJ&=$!Vo~8y+RiC!F_Qzlj($U^<+6!@*zA>duOB;>OvMVPE z!M+oy=&CFXvN508q@*w6T$R2cMc*>9oU0o=MPHsx<1+dnE@dRyLI504vnP#PaoT{I zPN1eajjJAm6b<_JeehD7^;wz}Y23R}k;X-p2Ks^rsIK_ksw?50Bww*RGr4vjEtC$jgz7%mkf{IVlJC2HUuBYgd-f;y~7A6^}ER2en$lhO2 zPr=x)q=CZl0nKt@zk>E-9s1tD<_o0zUkPgZmW+Eb>Hd5m`6-^WyWQ?Q?|&=4Mq$G} z5QELq!=j*&5MfQeq&GgbO_7X}}3XJJy=c;;Gm5XH|A zA_6oFBEBczTqo;-3NoQiK?9_gjsYn3al|dB4Mgb#QCf!*RlFkR9lUlj&LhSpqAU!u zRUorTZL+z(LlH1E$vfr4g-?~3TGq6FsFtv>IGsRK6TAAbd>rLZ{NwUE>d!MbPb8gxk|}7qy2I zFfl5nzBDFJ2x07}uS3wL(*^?l!4c>O1y%RckfY7*Y*gT8VUn*E6vIMXB3ys4G>0Md>i7X^3e*ol*CBX$ZjG(hwg7QveM<O>F`=3G56au3UfCob~7d*s>6-Zp{CUD0p;$n zyWG9`mhLV6`z6%ol~TZ+SD{{p+Jt-z`zhertwa;vZjVqndBl{8g2|(?qew$Jygqcf z;j%$)Isu)=kxM%Z(H^}*K^!ey5vo+476uvU%qC@%jrX1#_N*N+RhbVoJREMibAIyb zS;$TZMIX=aV>i&G*<~+8Vfsds)=();*lO^_0QY&Bt75Ihv@ppRH_k@IP7`B3p+1ek z-uaeE%3ST?DeAIYh334$11}pq(u!LWKXF>N&DvkQblA$1Rfi3r=>%vRx1LbcsG74D zb`q(k5;5QY5n^V8VgwG(Hwo5_QZV8ku(M!kbPYd8c8D!_b|g93Ato|k)!OzJCV6&vHY&-E3%=e^BaTB0*Eyi{ zt-DL#zr5XgLw-3C`4F7g=`qZ;fAo7I(HE4U9=fbEXm@Aob5{zOSi#j{S7M$H3v zSWY^mioNNy7s8mnqas)p28Nn2Fd=|ZgMz6butu(IHCPyAOl3AHA|irVpQA(OIio%slk(~lDZHljfRh$rgcWCsYIGBmyHZ?Cpd$vTn1}gMkA0ty?I-n zM#2~)mN>I8$QaFRQj8WvWLFmo_Td7Iw-2)X5EmaVY7e&$u>63_548Be%iDN)8-KWs z=MTF4>*(^oqqMw@d`s^7fKhU7Q5p5uv@05oNShreyE1R^sE)1Xsvo*+pkpWK*xa+s z_M)_RWCoAv`{23O*t0ara?=Z=93e%aW%eq3exeidF^Zid5CYD7n8dK&jRA=50f^jR zFBH%XC|Pz020+bgTs}IXN-%f7IqMC)-Chzb@^y7|u&}D716dCc=7Rm382r6R4E_|= z&WviDVp@^J%7d(|B#kzlHt0$x7}JnOcH%IDX@mX$9f&z z11|$O0&d7xU*oIKL65YwD~Ee~N>Yt-UhOckrx@IKRR#Rf`RZ+_y%6;DJy6~nDW#Rn z2(D;ZX6BHfq!KADOmdlu*{Fmc;n1>?;ecsz$f{uLeS`Q;*9Qbo$Swxah|~GX-p}7u zCH-sr2De?nk4PBZ2rX@cx!TQB z1^L}+V4zu3iq1Lni0G!Y1V>3aBshn}R+~U)BQ6Pcis8fmuokrhbi_am2_f4mDMrU3Z zQ5p$Mn#&Y*q1gRRh$0>WO43BWp-E%E9z68#%<<;H-m-q_fJG{DLP*_`eK+X z=tjpwi=s|0O7T>|YX7dPd$UX0gc8_mNMgRJtUExex;*Bg!v;Wg0#J>MV*(Rvk3 zjO}-~$fa+d3Xq-~por*_Xy%l7nmQe5vpqmjaoNC{POzqVfWn`P;{TNoP}6G#$zc0NvaMHtYJg?Ci| z+H%<_OmzZ4vI;;_B|C!R*~KD_EEtRkYb~}~nB>9LY*gs0GeoU|kcw-lgWC)90I1pC ziC0}m5INZMGNHu?3fdplIi$<)vBzGB>Ga)j)7avNPDCKrRYwp}A4`y#Z_iq7?gr%s zDu=u>#-J2idWrK|(Nn47{jD~df&)572cY(T7WN_&7y}a-C8v6)&6dwz2xj``Gq5U3 z3R=q)pHD)Ox;dYV$_T@Jd&Xq$1_jJObg^ZH?*Ui>`?2JmVd4~OUbaCR)lVb$O7;de z48#E_Yk;!LaRXI)L6y}gsk%lJQ^!hln#*?C_n?lX)-Aj+$tcXis3b9f>h>44<$(DF z-L29U&(!`}Gw}ot15I`j6exVRyvy#s`9rEr8=mVX{qi}lc7rdiC8x`gD3UOj15#_3 znGG`HGMf}C5kY0Yu&BBNYD%jriPowY#Sd383^SUZXw z>@*aM7h+m6C%ytF3xiCVW;QA0jO~<#hSW3jPtc^L;BfgJP0N5$ZcOFA%jKUh*8wQ*7xuU8_NsoD^pTqO00FJbiX^-h|up&l=y(SFE6M)YTkLb-v-?~PzX~=C&-kpRL>L51JEAy z@9c2jz_q?`t+|DV2q>}?M9RJwR<5M3mnONs=xkJ^m^^7+1qUNthP|%~%!l zkc9YTDoP?Sxe1wx{I{DE{|~033dao?>I;TiQ&9?z3V9r3MTP~nRMh?UY~<>0P%tc` z^PygpZ=D+F113FX_oOGk+jDa+5Ai7)hI+?-iYOM$#&6eO_@#)m<+)K;>kD#L%W95m z#3vGaftUw%k-XQe0IJwF$&`Hv=Yos_y z>W3m8xU;<-=ArWj^z;Qity^O3NVq`79H<0#!l9yHu`tN`5NDGDd!mt~6(ug26Gs#^ zHX+dg$?SZ`)jASsN?}~Y8uSFl`=avJ~RAe{~JE~L9jA&8L#dR9_D z>gQq@3O5j;=spibh`WL4mv?)VuIba@(|e5kWEV^kzg^qV*JhqKJokDK)I@=L-$@>r z(P_vTkbNx_e1!ll3_e28!la--s4Mgbm53Wq2R=WJinMzi_5AGM_1PgKkpMi|MI>?f z-IiN@J?cF0+(4bah)*l(AYzCuyrWZYZzKYka2O72)$xgn8TaL+W##2LI(mfkINnnka}k7B>Q}$K2x=BWN)Y#pn^dQgO3=rFewO-I$djW=CGK%h%7DPSFW%8RLfzDreU}x zOzppp;?kpJR}_Qu^rwHhfkF?o4L5u@$k0pU5HM3BDn-SenS=UJ8(m$PwIKcwu6&4{$eIDoO4?v;ni zCh4?N2}M4G^rTmDXWKR{?&Oe?J2|L21EFI&k@_I(p%c}va+1Gdz!7^;{J?C)5_ug* zoNuH}$fB!9C-wux_MCmjhCQ9U>Y3tPFWv;!vkpb0zBq^!n5i0`Xv8p_L}|e35K=Xv z?m=}Mn4@-%h@3mPq9=>dfgBOM?`Z+0uCZ&+MX%?-uKXh+qJ_z>8suiCx^K?aS+{vF z`>zqSZHNLu+xDpOli&UuJ~^P8;F_dC?bHwo;s9;%0}>#vU{UJ+I z5Qqbv#OV;{dhI54o<$uvy_VTVsE50Pf(IAMCR9+g8xF;qJBNUx^*x7FnIKB$I`=a{ z^Z~I?xGnYp_)c@TUjHOuFpR7baRD^YDa}++7cke0H?LL?Bh2Z5pET~E;b~0Z(npCH z`Z3&UIU47H0x>zHI^1~gxjnzk>7m0Si0J;6Cm5Ra6F+e7aktMsxSQYMY7gyX>fx7= z+E2*Sgi;4eS1UJ(^eiHss(~D~Zd$ezg2QUyn7yo?rD4Kz2q>h_IiwzF53W5>5$*Yy z83alcN4ifxP$i4EEAh$E3ja>BaH*a6hBGITHm`XB+ zt7>8@c2EFlWStKI#SEYvQeD41P&~=}2#mD8#}7ym{cR~?`1+f>2x}A+3~q@*f=t`w zzFT{D-6nFLg`7dd_GtUSRpKAJ+9Xf*nm76Fzj2cTYT1uRIH8Rb9mq4s(q;XhaC3js z#@F_!UP(nDcw9&Wgb-%`MfaG~UAKvwXW?d0^~26X#LA%EURES(sGbi2MPVz4RP#01 z@kyKM4@B-)w&(+O^l-b5&R?EiE!w==U+qU{n|6b(_zll%FPVVv#7(T)Zx}p zABbSzsVBc zl5m_b7AY&9eE>Ligz?bb?0v^V@V6ZcY_B-XQt zC8wt)X^NjYs8L4hA&5aG2Hz;rA4AG9h&ib4%&3=!)BSnS7fUy@Mb9G9;52A1+1}0u;9A$#{&1q{*Uw)xx_DLACE&>Y2*;9Ch)Hs85}JK- zW_Qsl1jc0m%edK3GK|^%@2mE*E!NhCAw#l>_;pyW;j6W)>++&%{PitNJikIb7ZEqc zX4;djH}K+X1)65vGAH3K_W065#FxJhs(*iP%=a#N;8$6tbde<1{8Cg@(p(L%Kg@m({`|XmO?|p5gF>hZ!0}i`PJfHS6sp_PIBohzQQ%!((n#6hDw{2{JJ}&sv!543~pOHPd zlDlxhk4a+dIT+BF?Z$yqZO{TzOB&&y#xjsiz%@;>D|&~C&Bw|!CEE#H;Q})*JPpn3 z*IStV+$kG=+m$A=TPI`TE{xf@)w?rSQ^mZL!JSOovV$3y2RlQ5XB@XS3=K|FAtV;| z)G{*eAO$lKL>lrK6El=D&Qb3kHk%ZPlvheeT(5u`Bn227Dfs`1X+z<9Qv{7&<$x$djIOFhA!Q+SV7d3akV(myo*mXEs9DQ+~m>tvhqdBz~M64Lk0e3;EBwAoumL! z5nU@#J7^J!IQ)IFzs$G8Ik*~v5w-1-`;P$_a}l#pe$8 z*fG6X16&>}k$m122;E9nw}<=fW^^X&|^h^V5nS6twK&662jo@W_rcr!NKsBVgmNm}L zL3iOej7Tv)oc(*7e2OXyiY%*0;lo*a3Z(GIpw)n=g@^XfAAnJr;MEFH_i@>?lFHfz zX)>+gzcDFGG4Im}r!h1MG7!V4CB}4&?B9qWiyKkqa#mRl&}}sxb)5~o`(aRH-exkL zyjh^!$Lz&1m~%2vD<;}(&4za4S!P})-5K4!*sbGXrypa}s4OEeq!n;&i5;L}>p%;l zR=+?s$Yz}t;n<=hENPlbpt=UVt`Yr>Sj-G7h7doqSpJ7aBkx4`@051|$>~o4#;u9F zX*C}Pl7d}1j;2cN0JssQ0WchAwDkD!o|=E=znjyu=dWf2m$-r{o0o{}+T-NKY+7yl z-p3ZZeg>yicb((0{QtHGM7t8_bK+^&MC=F53R^`lMAAr9S5uR3Cqc6I&b@Y6^ z1V}N5U9yhz_;?rir^Zra$_L#P+8`5pp)ax89R)kbwcDH-5kzFsSKB<8EU${lY^)$q zGB=(xH~+aUCFit!u&mzJ+oTyNQM_*n>S*1nTmrCR55a6Snd(L=s{hwzS5oxnR88fX zYJcM#KP#y6O4M2;p%rEiNzdT8k|b+Y1w*9Ukuw4dS;Y#hr|Ge9xG?Mq%? zuqw<-2@eR+ydtcVxER*hGKkq+!ZPsg}eI{X>XU;dWvgSgg z)>r|USDi=K4wi?ncMOP!3+>2o@I%kd4cPr8uNh!fZV@8AOy+R)rBQm1Cj8!+|Xj5$kE#! zgx?8@F1^Gooo7*@Q_HHjs9F|L@!|1gv|6*i_I|zgsG^K2G&Qra^qQ>oSPa&9rf%1$ zyT#RXIE#R_{yemRV_#yi1p-B`FT2SX`_wnlQ%6S z#)ySbsek^RYn(^_`gYZf_I~g2x!!>Xkxks`t$g7+|Xkq znD!P=Ib2GrzY!TW5*0y_6TLpMCR{}Mcp1_OY#F?8%LtLr)Itl@M!?*nzoktVmB|5>$Of2iyAUaB>zBPasebPe25T_ZgI8wY7aZ&@On_aYvQ9@ z@b32ap=!OC%se0ebA2bg+AjI|*6wrt>~D*tUzb-ese63-$=k_mueXboedh|^{f&KR zyt;b}oR44)9q)T-It?NmxagYl0@(Xj8n&0^yzW#23yZAL}FED1#9+jh6)c56MO0 zRA<2-18_9cx+U$538`#>Z`J-{bbt)8u^cI z+)JwhUN*z;U4P$QtWL4n;x0GodW}Jy84jHu(9LNb47Q|Aq>yw1989)S$*PvZvax{m zIo)e~LjeE^?lQ*BQSsoDX z224+;c+J1YK3TcUk$n=D!9~$~ z3h;jbqOrOm{&EKNhaZe7=z;wpSO0Dkg1A9TjKede%}ECt<_Br#2NK&Raka^v&-a1; z?Vo3YeJG-m>1${T@F^=u6J;6`Ehbz z8`zxM#$_GeS%m+;x`7?e|4G4ZRZi|!Hp$fw?H*nbRlSXS*4oZJMtINb;O-PJJvj~R zezNQ2zDoQzKexkak^+ZWDlB$EpP^VKYUl-@lCJXXW<4cM_xSZoNspZ~qaXS>B##nd z0mB2JV(8pngkVv<)ukcm%48$KtyKCx=AnRtObui%fr+Rcq=lFR7?VW8C|-kB9l*Sc z7~feN)cm|d%Ax#_Kw%TOkYVgg?9s;CT#itDGg<`*Ab5tg1qk3`V=HjB47r0i4Qu+- z8*iGB0BzuG5_`m?41g~zl}mC2-nUxpY;sQ|m>!d;^?u!j2)qG=ZtA5#HfBjO+Rif+ zfsP^RPnYL-9O#*S| z6Cfh~gI)8QK_o%+!&V97ADkA#{Qfjywai9@G0=Oyn~^T-XP6!!n}^UC6QAzP8^x}_ zO$w*aZFaj3&d=#2xT=#ah-5tiALYl9Nsxh^jTluZBjia|K3z)#STphqnu`^#aDD#! zz5MY4iMSbN!4kP0+|2c5dcNSPA2#=e6aK?qFiII(82nkhZ2-ha!_}n`Qmz0YIRO*! zY?R@J2Api>gJSoHgahID?wZW|jwV%D?=TpQ>&hDihcA}kfslVDLKJbCd;$lMJ3Kov zkTDGs)Q#-wInz!TQMuLK`7ZueCQn8<13nLJdpk_EaJZIhx0J>rHLv&59fUI)^ElV~ zUa=56I|s|{W5PxWm!mTh40a4Trcx_BxQg0X?3!kAJUiiI+LJ+sW$lh(D%7yzm&pV_ z)2Bx!j)Mn9Yc!2w91L%fTCkk7?|JzOCDSQWib404ah-nuv9I&!*Np}u%W&CRARVMu z4l2-%D_X@4rpOeM<+QMxMH|tyQn?yLA=RYe4x^>ZIRIDRjn+y^Ny+M}lyW&Iq-2^G z^x>=@Ugv7lnDnfdHT~>HUS=E5*^O`iCOtRb`$GLgamr0}hQI6cp{A&!sUN0jIB~}v zQ-#ePq6ioxofT!Mk{xz@4*cCQ7p_Qe>G_N@?@Ry`4_3w=hsR-@I7Y#>NkZTVQ-&6% zDQ#30iT_I zqCiQ+l{JG4oOKgJJhaw^PHnit#x{DWf_eE%YMf$z$>VYpp{hS0Tp;=d*UgV7Qer?M z6IWKb+?EcuZTH$CtnV&!C`LoZ%X8mEspXr4av^5Emy*#l1^8(Y6R@l701d=@a)W&^FWwv;#9MS1e^8G} zFV>)bN*n2V-QhSHwRSv_-ttt}>Dc(?Um)>(%_AJn$L|T}8qeQ*9>-%r<19>Nwmt=s z>)G9LRS&9o-rKJn$72I^^WiZ%ls-CDy2J5DEc?;K(=9yC2eA0>K;j=J=Ogxbu%wfx zZITbMxSq7S{=vl6*U3b^U|A~XqgEL49;d_ce`+bC|Bd}>IW0eZ?Ebn z6VvshiSlrPcag;T-baZmHA9K&7<<(rVXpfVe-v@wUM8=}&d2coa)sT_68__p`z}%U zQ@Z&_`Qf~F^S5*3)!Y2z-agqM70us|qdCiWlO)(_?=rgfuf%PPP&B}0;Ys|Epsc?*F!JMY8wngGdKqRB;vB;F}nu7Wr1E)WQEA+4q&oz@Oei>vqR!*H-# zOq&?AJ__b06dGQD;QIq-bel(KC2MBTo6sfqo8v+pE1YF^PIj>+3|Nvm3X%IMvppOG z>OK_#<{sAO1~aneqm3{Lj{^4w&%1**eIlIH1Lh7NpREC$E`VLtJ+#utAa8Sf!n}|_ z$RnQC?RNWuDSux_fF_TCjvkO{(z+V+eoETjOy~hc?#$4*y!yL!I`88$2QD&!`>{uZI_|XXO@uu{ z%<4YgXKQq07Ty*{JhVOYxbT175V?W4Dksj_$#JoE;xTe0HP-y!d75gdBaetMDqCAi z-tnLrByFQ-)rQ)Wcp}eA8{&%zhM1q?Ma==T$sBbKM-(C(B}vOYzU*{@vPR5k-^+Rh!-oVuCSw%a_N{7~VGxJ4j2VE!-c z03iyL_MOD)=!}kwt2DbJ! z&iV4hCZX&~N|Pk^s2fF9Qugzum=cTb#+O;u(6)k$q;_%`@^ReKzqt0ot0EoNsFAFC z!QliJT)6bGjLN)1Ly4k-wL(K1aJ=dT1`$Q}jF3ZXi1@vra7Sa%TZ>CB<9Va{q=Rxs zMprdkCmc9)cC-c*0O=E~>xQkY z?8iT!N7*DC+RN9Zxes@(q7|f*OHTh3Nw#N&o9wh6;+ur0J<>CKo9w50tGg_I$GJa* zR6dbXc*P4@#S5#>MW&Mbu+9tA_6}h?F7#UO-tA|m&4zj99qZ#VcTV|henQ)0h6!$2 ziM!WQ(XG#@ko2fYOTT@#qD zim=VE7sOyXT{CsO-jA{4J_@5v?Zwr&l8H;nyJJWCf4&$ROa-~kUlOw>|9;?XLN{S0 zQL(kAk@gR>T8INJH#DBW7eNZ>gIz(*R?c0fx;9UZqZcpzKem zdqI~8R(&DgVyVNSg)XIE<%S^L$G*c}HYkf-D53ox<_f#wHq8$Llhf%Hs z>SnnTt{ULlwu-w5&!ybrsjA3O?-n~82JvF4dih=qmRJ0N>up>>R2c_`%gO68g)V=n zib&9Jiz-y|+z?Xzw97`_!h{uA8Lc^36lsXGOQ6s(;wqNNxm-%Yn`x=|o0D;b-G3NNd~p7omWJ9GuK&T=mCfZivc3`8{+|5t#aFnpTCN5RvY}CWiyz@Z$ED$O>Nu;RAr1XHVNpyPe z1_~=}E@3lB9oJ%zs^-jio20m?@tI7#OBS_Z{-Bmp{lbenH?f3b`n)-~O5y3z_%PQD z!$Nw$OjMp|$vtxwB<9zp{@fGVX*lzNXJ$2IO8s{!q~o*_bx|jNR`|OLx4PItU!59bgBv5<0i}vu!yMB4 z?7kY{J49Dd!~3X~0r{-IhT1z&x>9~fXy0TFiyPsF@Ah!dT*w*x8zg&~UWYG~k!hl% z3zqvbr-(yZVlc2Ro;Zej!t+-+UKkislBP4r3UU|eV>W~1G7bZ!4oyQNDMPKZJO~uf zIGG%C#wiTVBppO*B8A0KrsuXO2zk;h+NCaWD-wVm@VCWr3`sn*e(2JC;^U}$89x*u z$$@%@Q`v3Vb4XI7N^_zMQyw?Q&?8v3cXpTukU82KJwJ}&s5Zl@CCr>@Y^u;P;jhs; zoJegF?Mzs{O_T6Fm;|}R^)<2wO~|@^2fNhA5pz{?FR8{Ru<1}J$^4IJ2gEUGHeU#x|_sGM7E2@ZBdV8PR7Z12oQLMjcV%0 zU@;2xa-!r+>;XJ9zPEfQZ`cYIQs}e+f#+n03o9^6KQ`j z0m4Pvakg1RUS!;8cHoVdq;XGTE*Bg+w{hsA47$i5Shh+@99G0&h-L_O1UEKJ#!Hou zPfM~;%EX~m3C0u&#%}3@t{q*dMq4u|_5f|Kax}z3X>iI14LPs}J*9z6lN_qVp%jS& z-BN}s?U73w&_2ZUr;2KnI+3VKk*HFUs9KSzVxg!)_jDlY;6+6!^A$A7e^sI+=jZL~ z>6n1`Z{op(NSjVF#lkHdV=m*7MWc#Kfbw-)T#cqygJ4*z;CD>`5sU|Kspj}XsU85M%E|*M9lxHhM zQzVL}Nf}U*GVL;kDXB9CthLBVD=l!Ol$fAGNnL(TDUwa8l1?cSL#m%_O|J10 z+uMrryG=8AkFPr0*Tcg9mzdf%rf6x67vC0YeA;L2P2;Q0;bUKU`FgCbHwYafB;G4~ zxN@oMSJfka9fvLST%EOnyLtj+UGD_JvO%miF)P3Bf#v9|iccN#I~Vf<914NpX^8~T z6E=Wv+~(`6Y7`!UnpD?MRVRAZL(+;X-Gqz1(_6yr_EoXbXxfh& zg-c=}p%v)s-G(WppgDpt(h6aMNFxPI3x~^uf9Mh{A31RtnHEQYbb_1LNlmXI)QW2q z0U;xsjzDx{R&S{NPY`T5;2}z|&9~R)RcsUvTdnv6~bT=K({5h65WTUCQY0cfkm|e zPS@yGIbS4Y5>2==Y>&eU_^lTv&jAz+m_fBkb7%)u1qhIKHb`p1!urs)CAtdHWpY*l z(#(E{HVLzB5Nb#CuGbeDYe(_AOs$qK@oVlB38Bu}F@G?dAvxAub=Cm#3$SYg^J9o; z_6cO8zBP_*5#s4cr2bh4WO6tWeNF_~jO*3YivUHiN9YGULr|wPw)t@n>9%Cp zBM264UO05|g58bEd0E4Io#)%U(=v{S8#rTYog2H4kd=om*?UN3s7bO@A-LX2aNMcQ z=x$R2FULlmW0~ct(MAL|CJ@qt1R)rb;A{V^kYUJZv;!QiL0Lb>o|G_Rtn2q8a9?=t zItmNrRz%H+0J*RURnR>EU@pwDaP-aqUW-YcmEEXnkewFVtU; zx8OG23Xi{kUSe*5oIKj_eJ>~R=#Du2?{b4pu-fq&WSspx>56%&jW1y{V5MD6FI`dx zQY9EtB^f)VBg1G=F-HEBkOl=>BFJrcGMBog*o`j+{wF%$9+d&L>jK56HoOgK zD5bD@!L{a2TNPC{{%v^eGf}@A>9y(axVisSaY;)zRH^R-vxmkSDQ)mlheBap{U3Tvvrq7>wVNpKy4$WRT297`Y$pSi z^IK{0dY?774iV-5zvPf;{Er;;NM5zJ2L-MDn`m$@@o|7?`6{=mz5f{at_P31%vwh; zllX)~*YCVVj)#gb1=FCAc&SL8Q2nS;xG@r`tNiJ^7DK(#An~T*n`n~H6)C4n?zIay z4kC0CfxcdCnD4hDCszGl^CEP}iPjAxbWGB@Y@No{5IUJgp+)HGvL;l66Rf0;ot#AI zigArzMUJ@;J3qyak#t7nMCzJ6UsNM?W|bhutyk7bok;2WwTRL~Ez=~9Y@CB8Ql$w7 z!DSM(oojT!Gg8gZDp;%L7a0>|UqnvbkO^cwueEH=opt0y#C4 zKh%o@1AmIhu{2^!4~NO`Wy7aGdfl3x&@E~gJRp@%!lyZ3O_|*scY|PC(w*Pt_t;y#~V8*vjCd5HU{Pc3!&NWw^!%vV1091ff^&H+eAy$KoK7#*Co7TEfsiY zexp8XS(UwY=+>AM%~x~1n#|P>mO)skzG4L^Kd z=*2cYXvF~59i{}(1L7EZPMcfqi8Bu;DRigyK&m@%gaAqQRrj)Z+6^J&!eo65p5x;J)8} z#=c)aD9^;=d<8ASTRR{w+K03ovW;^luzE7#`TMyu1utfZ&?dxH;wVIRM+QO_@UK-; zb#a)$F;ceMtlEfIyLUo5vVK1x&EwcPnqtrIsF{cly??yx>{?S0aF0P~T*gdyQr&n& z;f`WhjbuQLlq96$j@T3$3)jI{igL9|55cHNL?vwIz!GO4l!-vy zQIUcUUJ;o>$6ir|QYRWwB^psC8c`=6RwN(^rgBM23UGc&OAaut5@9vq%i3LaOR*dA zGu36ce=SqAUyqYvwHojvnH97QIyd0MZZ%X>ZRP(+%vAkHnjefW!raOD9gxzFcqkA> z)u0R@LCQm8aY60fVjw}OtTt0#Duj}ncpB9p8`U5j)S$MIak(I*KI6`m--nzi?$kc! z=BVr<;)M+kuGrb5rH+njo65%can|U$DJ|F(+P&^q^}R=2r~Vh(+u<+har&*hH;t_% z=g>au={PBEKbp<7obms`OXvR|FFB3tn`m>)U)8n;+t23`VGn`(cqGCi%GZKuJ-)uM zpnGv&Bd8=a!j@ZnRA*49{{JBbM_pk}f7AjSx)L>}P5MQIjAsPTBvNLvScypapk1hO z*b$T%^!4VS8N?*Adc)5(uOq0u&fwV@RMz$kQZbdncnROf2wh!4?qKX$XOM{JQoEIp zB6C#%?9H44Xsz;GJF@D1M`aM$PN?OcBq~j&ntn3ngvfDpn2g|Ks&e1x@9$t_kc`F} zvf_PbL=faOkiNAf%C;e!;vu^X3eO_F+;cSY&!I>^2jAyt@_D3S%AoXAZ#=g*02?hM#JiDMi(4nJ1(a+j5d2_9I5Tb{aSDNR76ho=A8({$Lj>!@IsM23{jrW~M zavhFc(t+XCYJI=H#$*Wi2GD+t-7=rPAboKBK{Q01(_Jy{F9U4*XgM^LseL=*UhH)miMjKMDGHvqhXc@DsOI-Tg4v5hHE z9@p~t^KMCDIPcy{2mMlDr?aC3!Em57cZ`Pp1xth4<)8i_cp%rfmS_`z(w)kew$VRW zy%lnX*K@$Ko|=#4BP+CSO^eIX#XcJ>Vt?d22eR#|2}_94^Z-l9Rgb6g#8+$>!Hq&o zcjpWfx_3tTa~Cn&jyDI-;XWsPL!DY=dloECL^F+*=8!W%rptC^puR)11LKe+2j*Nc zU_ajAdSpmXmwXnUlrTqND6fr2+l%*m4;6lJqQwoT6q+}*`wKN@cr^H&z#{%1223H1 zs~J#xO*k0}NW53#E?MiGC8I4wpR{QL7OYP{A^|@m8EJBSU*>uASvedw4Z7f2DXK$D zWDMd3{(>1KGYg3MwCoETTCu!vTWvX?1Ndmtu)k~Ak65-$`}^b&T^{COjJQH-vN0_% zP8!BEr*WJIW=^|%A6WGoeESEV8{j$_``%eOEgC}NqWtW(ISj^+kI|1CcUCxkW~|f| z>P2(?U!+Ety6J0MFn2e|suTK2H92ubZdeqycd2L63h9Oc8trvivFa)+V)~n790faR zC9!W`Z6~-qL}Vol5N`qMg`!))+INQ^JgDDiY2KEgggr>?#h*n~r#l5VQOYpw&nPB5 z_u%6&rWX=_LCsI)z6HVp)XK~1+dult+dq43ov$^ws^p7hi=fg^m#>nAa#Q{jXj~B0 z#47(iIbSn{(bf0Wt0xR;z%ieX(SH3hL6nAzImGcIGC^qIvCz~C!f0-kYl)&*NdUTnRiiNuSkjmzlXKKjzAng^p;OYZ6 zYTVBurjyk7V&!rVc6GwXCPK2OD#e5qhAzUwEe=%JMuaxQ5|$Bq&i)MuB(5Ti6S;~l zK|%~xmuA`&BBP7?FN6A_a-D``aw=A0j;j?mQHzyS^4w|mT+~%lPjM%)aVN8JC$*c8 zf0sakgUxMl#^tymWLeOx2pD#QVqvQX8<)=r^$x*^bqM=L4t8z89W0uZ*88-r((?xB zU87_=`?&6f+DV?a^)j0R+F7-)dmJq%F6mBP(wsY`Ik!r2pLC^*dF?x9B6QNGetUp|jGpx7 z@G3H|5}zLmj9bVoso*H!A)_m|v8usFHg+o>DSJE=VH|PHE0~{S&L*Jk}m4+h4aJFe~4H2dPWO!V_e#P#LYD9L|x<`@51bW$|?K z=+T8&X{Jb3@2|Mcji#rk&AWZb+qQ?V`2FD<-^^c+MTNAN}Om5c3WpX#6lA`i-iOxc`d)gs(00ti`S{IOl$p&20_+wAeVml$x? zY7J0Gh7MG~We}7$@{}8vY+!MhCDFDDRvg8bb?3-D#SDwy*t#VRSkJ1k;59O&x%tPzm?YN61f6km{8M}4>3?bz zZV){(UBC6<8I?DhNmrVd2u!@$JX9C|lJ=lR;exUxsU1ifGPe$P9;K=J5I@i1Z$Th6 z#n2OAxC(L!m}<+&m@|YW?5s9((gW+3>eFRsD>l$*n7-v+N>q6LX~H#P%+KK2DcPs9 z^LzA|{11&fPtnVg2Vny%IR#1(!_Qsc)<#N3i@QD*h(|_(UR6TE>hhbvp<{SZubrSw0-948$v)l zE}C(`ZhQAl$ZxDkEntl9Gi)yF-_V^1MOyuy`}Dvzoi1he&^jdyL%^6QtMd&-fADuV)E$E-gCKL z2DT|I^bQk1Y%=(&svKo_o^7kM!EzXe6W z;(K8H8X%!Z_^g5n&t+Z7hRJjMIiFrN$2`p9)J^8G4=0sSiG0A^KjM#q`WZbt`EEvs zLKU)a-Q_Xz0KrrO{tfvPAw+AqKJ$nShfn%J6^G=2J?!!U%)J6#=w&E0i66szeGTeu z6Lne$Je9WP1Uy3tO=~qT>7}$TeFu+W_`Y)j&bmA2XTL`%MtDCU2VAJgp6H+Tab)hR zRol)I-+@=U{RXf?ry8Jx5PQRg`5~udg0e#lxjN`&hvlh3lhN%`pC9Y*6Mz5!+rapv z`Xlus4wD|h3E8|g^yu2JIn;4$&Ey}YHxoz(y=4S(& zxIcSR(Fj)xKi1MI3#}~9N&h3b@AoL&y_yTYgn5ORJLa?3_wCg2>&orZf^i^R>yy;~k(ai0PHhR&NBFv7H+!SET?$`rr z&^(-na|2?MRlYuT17u2;of==i+uMcP(~sY?WdG~&a)s5qau3!GkY4dA7%g|}7AZMM zIaP2EOZr|wkb{Js(rZ{0MCK^vB>7Y@8kBdKI(3+OHuc8lFm0B-V}~o}*%@l@47Eqe zt#D%GCqSU?{=5Mkp3-yY!H1#dE4Bq2vf?Ps2Mkd)(pL$tfyw3Sj7V7%fSi~LJ9#c3 zsOHvqDvz#_P7Youu4D;gT1}M-P&LD?)1L&V6;P8WAnLCg=dGwE1!&)C!mGtJ#_XMi+=++@gEXpF%I2bb3LteQc?`y6fhf>`uKiS2nX=i&{eD&Yl6f$~hk?cui26 zHoG20Z!lYd&M_p(=T`atQ=gLlM7r_kF{O1?PV|3|-X#T|qzEzZ*6IQ=%VIy%ihW3!3eQbInW zF!vUMvu?_Z*q?V5SrU+y7eS}uzQcR#*0*p3)k>IP~+$gnpW;_s&tX*d*9WBiM}V}ltSsEXJ=;D02Ow} zrxV{gkZpI$bkF{c+-@17*|s}s)Z^EBSGy7j%Y~!GPR@vAzsg)=D*7deer3Lf#y#h9FtTL0B$_>RUIqT}i3=9oH zE}BQXI=bhUg#VdW>1>^j#L#|w`ig}Su?a>KY<4Kmd_5NJwZ>yfs7YpS|1Hy_*fgyi zXPGSWn6&R@|MdY}8sHKH8llGDj>QbyC2=q#M~dW$n>*m3(Wy|rA{x()_898Qk(4<( zoRRzLr3CK!o(pB zKzWZfWj<`qVX3|4xN>j@D}VaWK{P>lqzF1G$~2^o`;CEUciylY23`7_Qo>`0=G7Dm zP7RwDo~h)0f-?yQM71iUE|~2)to^qcta~4JC4<1MCqq{g!e-^eZUzghgom2malk8s zFktkkPufCAd^C@RRl;KeF~9+gEP^9B(!n6;<3rYwnZ6Ug+Ki$wLuoVl0&|3u`QS*T z@bEB<$#B{-i>)R}a^>LIGzd2q4k;!oS1%Rov>etP#yUuFx})8P@zi#ou&Uexit(ko4I_&4?1lb_G$SJYb+$B zBynJCDatVxdt>`5bJ4;z*hH$5BKpCQRdF26SCae7&+ zZwb5PBtofbQ1ZtsF&d_YrQJBTPWrhz?1XB36mfptb`7a<-`Tk@G{0Z}XAi7j`}Qx} z$x+i+`w`JUP3j${M;_4}W9%PeQF%S~{kS;e){tFMQ2eR6ERy;Td_r_}o!gmPW&QW3 z2D}^A9rcMEB46vb({-stiIn`!4bH!Halj@|W#oQd!Hp5)x)lAeHbtm8{ftye5bmm= z%~(}j@W>!X)b&c(U-l~4j8hw|_Q2dGsl%IUCh5?l1AnU)AWc;;)nISl?-V+SMpCJG zOh${$o^bSyP*!i^{T&w7XL7gS6F(*gLmsm-D6Lmzd2d=8 zJnTCnTbD75L+TuH;DuDabXPYQIA_0F?B&8KJz;0=TK|3>VGe%bH4cH_I?GdzxmRbY(3vdS~{yoyuqOAY;pA47G@V72ZQA8-oj`8u2(yaLpT6 z5EYAK)rohWA`?2e19EgIY_f+vBI}U{n}pCSPB6~{Ie4=#ffP80DGB5+d=Et#3+_`{ zvzp>4^La@>ciid#_&~xS$x#JTVdJY5Hl^-yU6E9>UzL~3Bv^V}XkLz^^o6X+Jn)SV^w)&OAE;VT4eSKy^%l+MFWSFCiV8tZbjr_O)rd zt=&GFW_$BiX`28~TjP&i1H^AWie)QIR(ek+-B_@jq@e!aOP8+Ff*Hv`LB;#No5W;}c z1%~%En4k_z%O4X^z|Qa0lEfpniMny+%$_K5dO?IHMK0Bt(DQ#K(^U6Tx7Sp&h;cpz|vj_hP3FHM`KFy}xD;7#GQ>OF?w z!Qd|{<&b>(AhWQxYSXmCM)g)SlrGh2kx+S;Cq;+|Idf-+h`DM2$wmzziD)e%foD3E zKwEAX-~=a=msxlYMu7D^oE((SV(&&W; zamg#Er!TMSmk!d%CQr&T*gi0f!_W=@c|tWHohMNK5P&#!<$W*U9QJ+>;B6(f-m>>X zknS{0LK*ias2v-NIi+CJBv%5qc_0>EMm z)tIJ~0qH~yFv(yICV^%;mcXOj4!|)@X~R;pDG{RUf?I;b=BNOXWw{-J(;#Bxo&Wn+ zwKbB&136yY(T9Y(9DW(;4Y+4y4O^qdBnr9I2UJK(=hS3AC?NMzu|4)WlE7K+9CqYd zfg1t>j*=dg9Z?5_`-0zYN8eLTGA$IX2-o%3v!F!?WM6pz!T_NiM#z|^hV<0hkLK6? zY50CM3U=vnYN%IRb=kwgY<05gQi4mMu%1i@Y+;Xl0cX9}Zik*8(bcm-lv8Df7*Q0a zJ7JPL03(^k9$TG0l_t5hBb^{8ue>AOpoaw~H3XqU5X^7(Z^7JO>jVJ3|Fj)B@m_~XdqZc zli$@mdayu8tE}ser$L@9*)UoA)pgpI?LpZdRGzlUn+Pn0+h)6weQY6baxx^|)VMqf zcOyHeU&w3W4H=x-p5$$HhzCLT;pE$Kh&}E_Z*tGOk>k&DBYX{ijNasE1wJ&M;Q#r5 z5)9QPSv-~FL_yFQWPc*}q-P+`5MMkdDap_j6#F zRYGtXVLA>}aBdhfgT5W(1e=+nkeJOBr3Teel9VvsVI7Y>!mJTocS`Kb)WRHBx!bOW z^bA8>3`{a=g^7i$0C7U;P&`n%mjHw+P!+I%OQG%idJzu5BFDQJqOK7M2ofKg5Q(w`8-z49Ze*Bw*YDt?sVx_jUe`vz#1e&4>?lurf6{6%v86gl+(m23`MpSl8wp!*Gm*~#i*Cqnp?W6`u zcu5@)jS6|(<%J;$2@Mm;9Rg4OVp9@WYZZmoPQG~v!S#sGU_D8>Ol}MZb|V;LYA*%l zq$+(G1Psyf@Z#?JM|uT%Rr4#t#UW}kece=c6GW<36UhGHv7fWQ{7dQ_=zj5&igbSX zlaQ)nfA~G{2|&lee(_h0YUh6O73Nxn5zl`3d;Y@PEBH*Jt-KOndklYUOdN`d2}!&0 zCrqUuJm~(IQ|h-$d+1KH7*JfW-rX7GveNVnPAu5uf#nlWO_JJE;pj#?4-L{I>RdZz zb%<~}YNw0KW)b2d+&tKBFb2I>Lc?~Dxq3r@Coy45uPxa?bR8srIEkEa!GavjttMJL{xy2lQWVkwPc^MFW%d2fgFN* zSve$eTWvNmH+6UTj?T&BqHX}|qmdLGQU~Xu1qJc)KEurHDLqsiwaNo68y>7&YuMs@ zO{gRg3>38q2FkD1%)CPR9@*RnTejL+5W$iTYfg1SDl$r1G*`;w`w-evxJQlye*UOr zBwAuBQMg-*#YpVkxloDfe32UGrD>rfO?<&eAzKz(wy)XlQnOBfu!hxE=Xu99Q@Q*L zf4}X&pMPbJ)3|@V-JfHEp0&yxKfLZ|_TZH=O*oo%fDsGHh^h&&pV1mk!D(3Pmu7Zl zMyuc7A3&&L>x=kP*D1$r%B&7$2RRA*4MRhKjfjH4DG7Xi+tjv(W>GbrG<$Au z>~n1sOgDRn7Z5MqU%K6nq5Du|$7*xBX73$kYqTb>ij-_mH+9aUiyA;*7bq8;`rKYP zY{*vNGHi$@dDr2|u^#;;TZ%i1+?)GevLM^_tc0+jp!`>XXLj(%W_IOxMuaYgZ99x9 zZ-_g>(cvdujsNB90Ie6MDOL}h9m4YH?e2H9O^G?axaW4j3wBk2X>;pcAYPT{QrY?8 zfZWiQUG;Zd%6xQIwbf23T#J1qZ_N7=eM;ll@h)w@GwQ(`WG*HEp^@v%gzyRHRH9tm z2|0;UP=Zl}fJ!)n!d? z{;5(-nNGmNgI14;V`dNt&NclV=mlC{9J9SjOlJi|GUXynKjRdi$}g{ zDdZ|Ns%3z5#2k;D$^(v3!=+l_c*}Q6rc*N3K7l-}sfSl;RwNmxgDD|k;s8s2y$q|w zuu9b3YaHm8)cWm3j0!1kXmBmCt9A5X zRin$QYDe#mJqWbDp)()P`3CZ!sm?J>q|rI4xiTl9>eI}w)%5~$sGvzt-^Grqwem-5C}skD zh;a-gCI%_JxLnvm>Y4lFf`MaLyCpSfUL4pQ!;UB^Lmtg08qL{ht=1A@#>Sc^JDW-h@a;I*s+E{?Jo0PHhtQzcUH&rX%h@n)7Q0z4M()WUd@$nUU| zVnX&;7G5-X%a%9QaZP7LsvNahnmXI!M&Ds?zV2a{2`y{S7>*Ot_aYlJJh-rmskLmP}Q=fJrh%8 zL0$=W1Xv!QPf3Hn^^D@kJ_T*CU0fSa-0;^L5i7(9!!f(v5+={u`W5DbXj zFOvmhbryitSm#*99+4V({k_bK&8=^1bN7ii4#Wn52=AShgZxA=(7TzgDG-`Go9vBe zL{2CP<958W8oE}J&PfGRt}u6yJ+WDl1_STCyG2 zJ0S2oRhs)zVqn_m?3?OY^g~%xj~r#Ci)TD0V>RD*I2phhh8ff7fICxfr6I9;x}K0R zVscFIGjko~6O|3$SuU%*<{c9a(uMI)-fRT&odu>Ih~{8U5;qL@gfZ~$Pn=h1bJ3P^ zYCtQ2+v}JO(Q5ndm~g=cb3ki`du4cQhFUcRtT5SK+3p3_9n}_TY)E!Q;X}|L%RktE zhUa9bAyPBzZNUmtA9337Zv#mbbdB!KFiI09T zBoay^nPieGqkz{Lg7#$W<#Neh|Ow!Y~a=_7S`D`qm$FM{=wYIh*gTUX2Y)R@pKVg<`P&D-+Y#6EoM757p=Q2rdwhH za4=p4RX|||M2D%8h6ewHZejwvv@{yZ|46qzU`Y@)W0h#fhmdo^@*;)0C?dh-?h7YQ zjmM+u8=)&lYCR6ZuZ|Wex!lfzAS3LIU-kXN&OGVh7*ze#~lbM&Bf3%tF ze)V^V5XGJ>U7D;WiQFJr%}&HI&3^=K)En-y)P0T$HD~l4n=u2mi#!Q(dH*GTKg}Ia z&==3E{3eU*%Mo2x`hr1aj{e-NDFb2iHX1}?3odNsesI|zXA)+!GILhO&HmVFDw;)Z zrf}B|`)>~c^rR*IPSHBk29+lUhggqm^4*vq;oa;5)9-D2g6reK_jh*&Q1@0f0py(m zB31CA$o>v#Y;%Bvs-EAI)kB#e;ThxLQ(m_QKXz6ug0HTeMr6Mwix#`P1_=87?{ZO5 zoH{hQ!hWY3l0M1ArCnE+A1STiluNsv-&ZQBaL6lPX*64bdAwu!?!)-UxuJk<9oylz z_4>0XUt~f*?)eAdGQE*cSf9Hn9Y{!b7A`{UE*!a%OtT`qpDX*tNy`~sV?wJBi>$jo zU^z8Ew4krtA94{t&s&*DD*%w~Ui1I_)B)-bt;q@g~J^oFg>&H9RzUW6|w~)Ba zZJ#;EqF)tI8!z@!)bE9Ir^F_~@%*^JDAl0m2&vMf8&()KH1f*0nS|Jn6&&R)(~q}J)p`3oRw;*pk61-<3}XsNWvmm4gw!` z(6-dkxKJtd?Z1ovf~0tDk(i$Zf0Y{jk(Vcv^|)(bX{Cd$=&zWGY?gli@9C%1j?Dir ztTFxsV?iNKhS?( z>CmmVuOBJPR`aB4I@2ocsXWyjA^~2{^<<8k@dt8rHi|d(&xzOVhjKcWisKB68u+vveW_(Vpvk)xGRV!ORyez5( z>6R)IT^(xKi|j=fA`3ePe0;n6b*hEfvIZ5tm%1Q8uLy@Suh$Otn~e*EY;6q#2lWA- zkihgUqbS#)E6eT1SR>AFYom3U=ocod>hl1TrV>?5^)%p->=7;qp_FaF;W$(Davh)4 zJL>9ym(mC9YvV)8wVZLI$G0lOn@bx}W>|hfP~+B|TP|dMv!^nOG}llC0?8_P+Ji$vlN-E5M5I9Boz;D-fOeIh1$TEaBXUxiLFFm8=m z<@+|_eRHcuH+nYC8txQdn?JIE^_1FD`6kf@BmLM1ncnRE^mXT_<=8JR!GmwbGR!`H zYG!&fUXo>1m9GOa6CFmUtu4tek8+e1Rhf0a4769&w4YI|cLI9eBwyBBV=KXgRgSkw z$lUR-wOzV^jS&K}Fb}$jRt6yc3RGDDs_>b;ljo~RYF0P zsZ;ls!d-K=p`C@ z$(YQrlOXzFhBJM=Z1RelpLWk=CTV^8J?G2JD<`MB$0L~z9Yv@%;m0BW*@tFf9TdV9 z9D*fSh=d6~7EY;zp((y~-<ID(iP2r1=n95(B_M}5n*gYyHvrTl!vRAe0OP#m@f zhAkmd;)CwrR1PnUlT^w2BZ=ba%oC_s)d5-xZ1{8-;Xnk|3lgud(PEBFUshN~`dj0M zbU`i5$gO8{9OBa~b)o*&tlhrVVE(VSS12%r_$2)S+pPV%FnSTuzPjH#rm?gVW$E;$ z@|A6~onx)hGGSE5?~{!oFs=7s`(D@0V%JaA8X)@I(eWr&%|XS(^_@)%pkst1_m4sX zJ4c{afhU>IxjTudMp$7?rnZqrbmaKL(WSihI{h~-lgiASpslm51tnw!Z8pSM#3g#i z@;03_9cr$6CXOf^LUmWzJ@DhILCjQVjK03lPg_rJP+V}b6f%!L^ItQ8TqB$()9WdD zK$fWvt>ia&h`t(8;?qKdU)0y|VGpCKW7FX>TGB7{Y-}wpm+V|?GQ_9>A6|ban;%3r zUmxT{600(uHdNjCwH0wiG(DD}HuxXlTHHTUAr_Y?DGsR z@m5n%JBIasGf#XyTX`qafet)XztO$@>vF?@qetySOTMvK?+)n6f~q9 zp>nTdmLWL1NKw=%VeshYa2ciai7}2y04BCwMjVVSQyanfGBdOpS8lz?G{e_>8f9Wz z<_RHeu4nT~4R;w#MXhs{Hivgd>SjNe^X)8l!v?p`=TTH7a_Z4Y8*Vcv8WsEu^J&(LcY`!`1Ib3?%R1 zaus}|*R`m7{@${Flt(8I_)FXVKs<||-&oHF86B`KlET$EB|5KDUw)o7EU0S?oR@I0 z8inZB;~g2nr^Kh>ts#Uc0R8E?4-p(z$ln4hMQhaWx&eWfwm9XrMc5K+Z$GeW$C_5j zIpxioC2^|*Hz)is>cE$_Bi_H#?|{!3c+PPwEAQmfa6ilq0}o8^gI1+}SPjxNo8iyc zfZ00rh(w5)jgGbLH|1N6mi6qfzpBiwT5ucOl^4o9U9^0{N@+FT2SZe^Sn&s-23IIP z+!~p#D!eA!g(U3(CvO4VGm{31ELZql`2AfU=Mu?3~Nou=Jg4ilF zbim?KLda~?dnKkn2LC6tKx8;qfM)ijk$+lZcNE7^6LDd%h@X!9`W0e|FFbm)#+Hb@o z41(P}2bIFfC6pq|$ZQ7zqf>5LLHGu`pN~P&Xip4H(j1gKpda6{OuaC%@Bnszml)Uu z@*LROj!8uRCZ*jCqMG2L-RywA39`5REsny&Sz#9{ZN`)X%!^a#8tO%C3xqIsdfQtN zkMsNRzcv3sOAjCf6?jh9cuZz{T zEsch@(gBI{CDs7%UyozK>yMSb*VyDkf$dJI<6a5vDz#9y&?WtF3T?{E_1Wtzs~R{Z z{uCx+z@!B6j+9@L)i?GIi|+zuul6!ti>ZG_l=$CYWMA!|qHgMDk>V9C5oWJpU|!J4 z#$9r&74%=$-eN8gU|JMBf<)zrN}ZfuTf3e>i6vcOAs`8*P(q?q;T|7EsJ|g`ZL;2Q zk~!A!U`X#eNDBAJ+Rl$vPRe7GR3@l~Ea~gHX`ZOeZKLxnJ#IlD$z|ePb^g}B3K|2< zjwAG{#~qAu^cAg^gC!Za;;50;i2!iGicz2Y`IVU4mCY?`07(xZIQ~Gv6MUlOJEu^) zq2|Ej=<~`aXQKMe$K&w|BiLf-4?3(|!JgAeN4UbayKwVT<4AE(>Tk;Znbe;XCrnzl z`hu_?oSDA4g;$8diMddI`F&_wY)@Kt z3$Q;>D^M66evSASIlwm1%cwu>E^dd3w*1Yf-cixRAz^_{(| zct78?enuVSiUKru_>EbORnGn}XIf)7Qb(YH3^_dS@b>HBW+uKFEOqp~(Bl2g58 zybXAaAMj1cWK4!2C#TGL0dqbJ*Utg+H@^eLhokF@rDrAl*p*DN2O^ zsWcN9YVlIXnh2&3ns_J0JeT_gm&v+=p0P4cbnW`4%bl|I>kCX&0l9}}=_BB7F;u+N zu+PDA-F3U}43Op0Hua5lpb}RjBWgaRSm=Mm^TxR!vE%iLPjV)oRSCwuJ$0ldJ>j6vZ^KbsnCvE?i%d?22|194XHFy5cL$~YlgnO<#MyInt^PJhhJ8wL(H zMomqSgao=!)9Biqn9$NYb-BD6;HQ<;GAU}jZ8u-jveopd+i_u!_?n0cdbKdW{*Wn=~*B>Zy z?^fo1MTl0tXwY85z)>SndJz*J`oTqv3oU6Pq)if`W#AqJ0tNh>2prr#5x;?8X{qKR z(ROXK!T~QyA!A(H zX2_B_CKJ~O?~Dcl!b|$hg*ZdRHi*52xY(9XH?jxvsa@bhM~KQvoPnLUZ7B!=mxK9{ zc7)^>;iZ4(9go<`6Cb;s3UMR@m5IV>(j*5Ba3Q4nYru=i|;lwfh2=`z`f9DQ)wW?HCZaYB9#0xsEz%o>-h^?N*AwEeMI0Z;Tf8D zvdQ@Ss)sZQ#5DM#=s|2Bc5Gj;SinhZY-u2+BJ`V!4Uot|M?N?*^>CL`dKR#dHx9rP z!@^`212Rl&p^3(aH_R+%<1xtIFp-Exx5RXk2uA&WDapK5&(0!RLWI8s{s;t_m1+e8 z;Eeo(gdirIUFMNeetm_A6c2tL%SxrsGsCQE{vr+n;r#^?$)a9NjQ9Gc*7dVxfE2oJ z?6lF+MkXmB6O5l1If1y&XOC5HsJ3j{LVJ^1{c1Vs^pv`Q>EK;u^*Yu-SxS)4^Dwvb zKsdUpgD;J=h6eFS>jE3$CRl+T_oL-IJ(RHTH|^_#ep)XhE8fGk}OC#hUZwl&k5>p27kCSJweuNuMbInS$B!SL9-*ygTq^=9YG_@xm< zQNYKO39SJgZzolbhZGep&vkjNR#>z+0^IaBI+Al&{o3Kb>+N1D(z=T635^j16=%4~ zRU38BBKs4|@YyrpLsn)`BE6%L!s|)44>hBl?&E>HTwQ?lKmK|Vl(UtByt~^&W*?gM*PB`Yv4G_e^lnz!a3Y80%_m$qZ5kdlu1;af0 zEqf6WlQ|KTD#Toe?9-o9JnYj2E6jRGIuf_Vb&hQAtQ5B`?>nuUAmzo4)w^}4 z?v>~<-VhSs#WTRC?h(LrsG9(|dKaThfqn{8_kEei-5%TjpFz<+r&JdSM)yN@D6~Zvz?zrk4ppy@og@!NX}#+-Jyb2R#Y@@raVG<`S6-*pMebknKUGKTwwJ4JE7RQoL4 z1b|wo+-?8!cD}2})}g`y{_AjkvD{k{&qMOUmEUz87OPf>lE>N8j#l=H6&8KCf+Qqhw`_I>hKoY-RV)x+1eZ-!iI|foE3s^D{eg$N%A8pOWuKM*eY*1N7 zc4e$T(z-Gyd>m|argw`<6^UKytk{7V#=f=kkFHw2mbtjJ>K=+o)9hwnW z-={4{ETx=X|EPXP$;AAoNL2wyO6rOdT63)cHQT7h&C{);zOC#kDSZw{)Q}js+oSJI z8mzenj|tE&N?(@8MSrV2cf;FiQZBgWr!gbv=?_pr!?2}0qm8K?8T7ozA-C18LUVC1M}4ek1F_S|eje8TJvz+<~eLQzwI*I%w@9TU-^S+rZJ zuZ+lP&Pv}R>=q|G?4J8nlli{zZpEZM%=+3CPx9`LDNS+o@XezSM^sCZy1sqh=g z!o`l|EWWD2x~qz_7FBQi^1-z-Fcz;E3q)<3f0&PrhZj8q*EQFr5k2~lN9gK-GDcZW z+>%#B3&!(nt+~?EHvkK-lKD>k@3Hp?<^6lS$ATMi_Nb~~Me7J;^R_Yx1i4`KW6 zaQ_@bJ>gQ~3b%C|{)${Fyk9f{UMyVu;r3TigEll_Etpe02@cpboDoQrmHn4uW|&qD zWF$BZgr61n&Tax7o&R`vigIJF19`_PfQvyniI_Wic6x^Sul| zpGxsh$q|Zh1bntdhLTfP(KgFz-Kll@PzQH|&a|Noggpua-WR4O(eVB5s{`^mU^&g%;AFR8(Vs6CPgC9K9!?%gO21AmSiF^o-6YC zp%BPG)IFfp&M}vY04paXD3-9Qh^JtNrfEeml2j!JS2?~OlZBTRh%{qUr@+ z%9GA1cl=G6hjH}%*vt#OMdg7Y2atFLR2-R&X@%9)^AzirE8ky^rfC5^9-$e$jA%$i ztGw-A9|A&H+Z?caSi3?|+BD{>ka zHm~=!D()&$@B1B!NT@I*Sq7s`+!F=f7azae5Q45V$;+2CSj_qz1CR=b&mt~<_^mRO z_S`TsbRg}|JstxLsD&2*6NcL!t0N)|XlE4E{iSd;xLe65ez*5Hn90fMv&4t>Pk`*9 zIou1V2D|;L#X)VE5WVzmYRg0TO*hdKx)Gl{DqUSBl`&aLA_h!-&sQcfneU_xfE zwdJtf@7hE)yysEytsMroJ`0_iYT<@tX5twiFXdX%S%;{v$w9|mii_p;u*>L?WP*n; zZeal84@@ct9*SziRhN;^pft1%021QSidR;OlZsNA3G#@fU#W3%Fe-GwdQf`6r;!ns zqAqc0kRhUr>_N#2?>kl)fwMD}1c!Vl^XZNLE(hXgl4R*I)*E&CF!KZITp}6X_RN8( zpwEfL9Gek;6_IVChJn90fiE?;shU)IAsV`sW`X zg_yISBohfKC;WiiM4*qN91Tp^>c%Gk3ZkRTpQ{Bi0*&CHMLo?%8HU?UXE$aT!#S@N zP9xu-yV0Xk=mD2ZQ;G7AFe7=II1KkSYdg&h7H{t)oS3GQQ8-9^jY0&{KZ&8GfI{)p ztSl~8FDU6_00b;+(Bv3TBeAsE7CR|5D=&Y$T__I8*L`FUVn39(t|-MfaJSgeEUrtX zOWmv%A)G>ewMBM`rtwm3;a9K}5-1K$Ux(B~8zxBzN-MU&Ig)goO~6=->^Bk*AkaPk zui-Hfa~rqWaV1p3Lmjpd5P*jqZ&BqWa(u9J^cFD`dlEoNkg)wl`kD~uB`H2lnIu^P zKV5oX99Oopi2h`{l)EQpVA_?#+L5SZUC_D?dU^$LgAmpq)zB(pFEWtFNCM$ia*Y-{p334U`)1R zpO?nHO1Z;>Xw)+1nFDzOdzA?f*}qtL@g@G1r3iHgJzc;d3;ViJygp@EgNI;NxMm2n zJTpxt-ncMjjU5?~W;@9V#8@OM3x2A&zUo;qdfm}|Z5xQ66XDRAp~6<2 zaAYVz%ksB(9cZBRSl37Tdwz?(PS)J#qz;%R@rfc_GLNus7(R04!IlZBDSv{npYBXL zIwUmUxF6^7_%RWUR*R#gwI@fAxn`asBl+%$o(yR0CzP%=a20g$TCX-tsxyEsJR!;H zvY21&rHwNUbfySvuv4x2$cs^Cn@~sw_GmQpZH-T3#DU2;@R70p>(V;3B3<1$p6itU z>S&)3C*|CgM@KI|BA~I~Umz{QL5yP|s5;;}Ypz^=KyZ^fM!Fu=EA~PDhY|T#cvFX1 z+90_TwfSox{aH5cWd_YK9g(YYI=+Bdi4u^Z;GE7~WxL)2>B1H2|CWcz_abjOorRJf zP&?_aVOLDPu%s0Z76I_;?`?P+?KTEI`1`8BktJSu-SB5Q!RfG49Np);G{Y_9xSIsh zn0euM*tF|KEfw=mhR?T7gN~F50Z)3B2#QAu&3E}x_~7z zWGOy@4c|mfE2jG^C6HP`$!wP^P`t`tmu zAtgHeA)@-P-a~>G0#=5T8X8)Iazc~@)o$G*sad%r*D*{%pt*{ED z^**XLPE8gOd0xPrbXK{<^0j#;*3}h-m%mtAzw^io9; zfx^X&N>mr|T@FdgDqqYb7RP;l5)_nZv99uRfu`UmdZ<=)O)`X^2pohUJ|+l~zlba9 zCp!4=q`BhN|BW0Lq{T!b*_ncAH%^2!9;LRg;UKz$WV-BvtgTTI{wOYA{z?YsG(~72 zbMdvFhl(3-6^sZ@7orTqaADfS)R8>ZdWTG0g_&+*NAyDUuiipfklh4S_EEEP&Cn)+&v4BMVv`euT zq_zhaQzq&GUo$Ve9%&fVSDrkn1;*24jC83OlGIY5P))ZdZbjRVr$Zd2tD}6eH~}h( z0G?XUH3ZPO-il$!*R9D z)mk5b$VuRxgiEKd=Oep@{V7^5RB-XN3zZlHfQ^5{! zd$8*4{zPWugUmnp{uv*^g!l3sHX|E;F=_}bFi3F?ruQyM{(sO|!3Q_Bx#kN3ZEifr z18!mN<%>Per<}0VBkwHEXO>d4>O&)nMB-vIZ$Yld=_m&^(S7*@1NRSAp$P*c!V_py z@(=E*p8LJorJLgiq3Hj(v4(>AbKXd;(gcS|sz7dxk-%3yNceKMJ2SGhB(ePj!+CZ9 zgX6_1dvv2`-%PY3x2zdS@B@JiSCnds3}Ubpt^UR z47-Jy2vWH%%?Y#Vg40uWgRRbt?zRS7FeRG2=!N)#UcqU2&?t0*dlyKYB*l@B#`62L zaXwa`De_n%XQtfJnhjDpzy=_Ax%^1Thl2Kmw)z zARYtZP|%H64j=#n#-cPIqr2$PJ(p4S4+v7X62R33EwX9WVSD}AXq(W3ME%^&kV=%_ zfM=VuNNzylHu>WATBap&=OZ}pWE5DetnSpk7mt*~nsYCuI|+Say-e0?xk93yGNVc` zB$wU!rY<7Qyz?KZrJXHQ#0|-lwE2McvU+Wfz(>kMOIp$B-@cj9P|9`$hUYw0*wIwR zMj|7}uPo5FQI8$-`T5f*>bU4G6b|kFMUe2zzGO}lcCcSfn_!dqTc>YGcP2vW?Ur{P z0jIJI7({0J@IslWqT_L4+sdsslM2|-rwrv@dR4}6d^h-{X@u zH2XCVMHh$K5Iv}Hay^a?Ies0vs8}dM9g_y4x<{O4ZT^=Frhm9QXSl>ZQ_lWTC-G5) zirs&4yWsG?IlpUQp>=M}&d^aaQjcAeg0Z=CGxTK70@c@T`OZ-?d(s%=p!^P(C9mZ-f+ml75- zedkitT>MeawNu^})M}~2Kb6?OKoMA#SM#sH1zfeaE=B4U!0yiO3u4G(K!Gz{1@kz8~_`>J8t5?Jq9Mjfzy~wog?z$!%&FS z3f?#qalznkNB3H0A!uZpHL>_VYrj5&#Z?T?s!!snCbz7#R=U&lYMA}mIcFdbJH=O^t04|lmKOK}`o2>FV&~CZXi^OT zquClO{DH5tCV)}xs1fc!eprADj2D>i1`=R=<5INAAef(Mfg?zCUhf>KT6&Tkyz~c5 z=tcB0@dYd>aAt#p7GgY=H0{v3(q7g00)Hx-~e!4 zX2#2E1d?L-UU(yx@}&#_$S3CYTy9L!l0mFX$8$p=N36on^q)$bI-?FsZ`!~CYi-0q znd1U`Khu*nAv^68Yis=3y`oNu1}RYHShR%NgV&%sH8X$4$iSAyU}F6{9+3IobHDKp#% zPB#-hL1QY+_6Rk0*w-yjmed_noZh`po}NUQO!<)XC&sj?K=Ce}S!fy5mN3jrE3hN| zn|D+G?I(4btl}^6FY4Zu+{AYK>&K>W22~E-A9fark32g1R``m1s+luvs{a}I^VNbY z5#tV~15|@q9y^!y$lq4~`j#{qEHL&;JQx3bYN+V+N>6;1eYsnh7E~(;`S_Z!m@XrW z3qpf5I^`^`kq<{q5HR#9O7_$lrQLfgE>nNEFE&{Stz=nfwM^#_h8#$)UW~O4V9X4D zo2AMQ1NMEOjNtw}cfd~m73`B&d+Y9zDs+Gii5ATE&X8$bpEU(F`F?Spk9WwRZ=EL( z-FoX(r;*!a%{!>R?Iz29u9X}YL58&?G--*&7)f)pC*hR(uox}zMklj*fK*i`r`hoC zoy1@bZ$3Q0MsUQ#Mu#niZ?)vw1gAedxmzL>xiWdU>x;fA^(W%6H9yUiwPA#R~04Ra{ekpHSH8D*5gu5lZoCRgg1GmuxW|9xpu0bz?H2;8C$Fejsa zs7|6!4!qHRQzz;Dc>h)IRzao%Y$1Or%8^lW)lCx~t3wV-MMO+fNj3ns=e=2+AXJ7Z zCCJ=|qlVIkI3UpX=DAZ!xcUfZ{|=*xKTr9xjoAkDTbV_VHu6uzO#Ujy%lRZ}LVIG~6$xVe z@+aFqSt|!8IKHkjKFWj($SygTzDt6p z+pcnz&w|zWBSR%UtZ1<}UY;AOJB{%un3YYtG1W=|$t8dBIiew@C{m6?UQ@tUHX0=& zJ#*2795O|XK$q8uJl*Zt_I?*_A8b9?^-h<#?|jty5)m0Nny6W0Z5T!FIcs-z(42v^MWZ|qCR^VuJmUXx3;V|Q_CgZX@S(1%9-I#<7 zvpnk>@{&1W8f^q(Pmi7JfuR@#hu2E{)!@tK{}gT6u~yP z+0fTcsYYWV9_xLkg_U7^$kqul<(h&F=BOTENm!X+S`${Di{}GhPJC=aK2TTsUbkgX zyL%CDW1my}CKQYpMWmXLk(mkysi04jB{P1bZC{!y^V-UxPxC6b(TVoF?o~c!7Uqkh zsPd#jO!PkERjyl*DpNyxuTKLM$C5Pdz&8DZz97hZFsM>;7A8dE?0D6aW5h zz(M6K%OvtGlH|;yRPymv$*06PO(${p_UnL~-$s3AII*9U82pOWC3i*En@d0T8W+P0 zy(!S zt*=0rL4aJ&dL2JDUzwLKFZ@SmXP%KL-rkueEQPpr<@*wkwG%k37?1u|{dM1>cf*8swsyb?Fs&_2t;xh^-B+R*AsK-PeW8c89tDp2g}=WVW#_?FzHA=9LQ32AS1`Kd8%(^e0kGi$q-YnQ-M4n z-`|^~xBcl~5C|kA33|ZGb8GZ#pfH3rWe!d0sOj!R~+39@+B}tZIggeNOw19WfIOJH2 zMWJof8Zfx}!+^_?p!Lo02&3pt4>I>xEI4d%xUoe4_1!~Bp<+t^n_Kg)W%30!RIjWr zQ(Gh$#-^-$bxi>7_|QR^0crF>@&$L6orLu-l*v2go|q%j*UkgDg%d>f80;BrHqF1v z)<{F5J`9r9;)A!QJUFBEUqrPxAO?_vvIR0)^Uh?P5iRdnh!PSPdi*wyW={DN&?&Xd zkb^*=l}QK_Ux>TESmsD*vI}sfh9-Apl`;qp5&C@H10q%I?JAx_X?p+X@TOu`??ROcnsLqX=_u9EyToO3Z12}dNN|n1( zx-=T1`ac+GXvd`f+V4OMe!MI+c6$gTYYDjr@9w1wCvKioh^I-U_4wakq`)3|dN_3< z1j|U26%S0|t~d!DW%sE6{9`4ebe>L;Zdt$xUVXVFyF$g|_^0o47Zm-*a)QQRGBFLC zPkW!oy+J_|D%OOh|7X!G-e%0T-`=_S) zMUxoR?1_;j@-ovBqcE@oundHxM2eB|3U?zRCP}XA<{1|TZ^**B@oukSLQvC^WcIdP zz-}iK%Qln}Ok#bGGr{EJ6vjdq@(tnTRHqAg3AXcb!O;n}PEgqEx%4-<5K*CM8!4W} zNIJT;Era70UclFWM^2Q{ztD;AT(FUgbfdZ6y9FgIOU55qvc4YRlGhgad$;b?QoMCP zSUb6)dy{a=hTMc+o^P4*(0_RMSwB{?X>HAtx8{n^MlH{{3HJWoJErG8i)B<7i-5V$i+%H6 zS;N=PsV#hN@+gh~uTl@_I(05+W_~T0y#KOyzE5>N>McuOIySX?)D(C(XlXphxSum< zc9Jsk|1%}xRFpOV3oyaKb-NoJ}UEC&Zq-S!yg|%XZE_0oN*O9}Ld+L^+!!dnKOCGD{9Jh_{QGr#jJT4!^M3$iK%Bq)S1)+; zL<^M)3b+`sgkwA`whlpGYBntsW(acyO$PIcm5{q5D? zUj3b@zs*;_>s8#sQ!ZzA2TH}YYsjMMejm?kE_4+QqFsxV@+5_~yYwa7Qkmige@8~S z(}Q8h`{aT3|mZkl~HY^;>q3u~T(l zeEL0-fEa)G!(cA|BQKJ*V%S>CqVChXdv&==hAwZ^ah`TzIF6U`WTbBo&5Z}a^Viom zAO9mjGz>YA*X6t6jpQ4{ade+wmQaL3vM7n47s1zfBm0gD+7uD!n^BLC`$}$%g4IGE z=_twcFPpsm$0wpL@6~3S`F)J4`WPxNJ~_f{liURQYFo%IQNpOyU8<)ZEB#S+Q7eQ* zZLSc6fU0Y2HlP-bIN6tlnZ9JYr7g%Lceo1PUiE^%4K`mTP0f434_CoY@{7;$?PRWh z{;T}-|Jl3t-nNk>|5b&)(m!lI|#Hy+q}@EhLr5_0{7jo zs+v!c6iHFBof-X;NEZ85?0WyY`sTrX5QSflgj4wP30OUV-%k0H=c~x^JW#^_JQB{} z`!$L;{&X6|ipf15PPnZxv!PKWTwe`2>5<5D2X}4!s*&;$3H-vofR{VGjcDf_3d2X7 zoN%#%|0%w4B&gc4Fq9>IfcqG?fN32i68d!y8LW595lK@-5|Q{|ufl{yw%;$SEWo23qVW0pyf7AgpX#QzWPJToO_pf&^*vlWcQ?-OWm+;tmMtKsjDZpv^p!dt z$fmw+Zx}sdyf;vM>Xd1{=EbNdS(5NB7;_qb*mkXa-;}n@mXp&pn%r*s(s$UGvBSR1 z9rk7It}jDs)mI9%sNtXE`y-|)Oq$}qW>Y78MoFeDo7FkY$~1L$#Jcsj5oN<-$Vnor zv}ycFRr+2$TMKhpA5%@ol)vX?w=9OYFibldvV_CZCssRbCu|Gnd!puD{(+ z)f@IJjSiB69WRc~y%(m+)1hZGLn+PSOW--Pm1l=_`UQv(g8ImT6G}?vCT>@uV{XP& z2~C#^*S%$P=1;X0z5ml~=CSRJUgBaIgguv_8EWGaY9#%;pLd=9eE$=#)rddH)TI*CegA_@y~@1!L8e}1&HNZsuQZ;1kf~QYD#gifMyHI&q>qw5Elzl`9qo&ebKaMB0;+Kp2c%TS~>PGzPgE7hEu zK3>78Nwc>_z;@&!Q!@=#;36g&np$z>_5_uHi`Vb(|BAZ<=r=0UeNSGkJOim985vR0xXj5Z-?2`UQj;O!kQp!S(O3nl?p8LuV0$OP-HU0JD7297`)xzAQo9Qa>ehE|+scz*7n_F9@l$ zOb70Zz_k!Tk*0m3h3yl>U-{c0wTqHmkeVbkqHpeEflp<>z)Evrio&Em$4eXg=NMFR zhW`9(7|d6*2HGH9oMQO z%rv<(7xu_YSFmi_>4)`BKV+SL)Kta_P|a#cCun+0&p&r_HU4sXB5+7vjMc~bE4n0g zh7)6|Ex*ogjZ@lvbC!WU!wl>uB6jNhypYlBIX)K{sYbR`+ zD91QkyTnWD7Hh)9fR6R-85frcOh>geMJIo^fTrFc@d-B6PKJt&xN1cqtFjSSoft3E z^WUzAlT%?hxgLML_)Qp}38Rbg_4x9HrbRd>%I9vzOvAE7fky1gkkGBHnjMtmO-nYI<=N7K)Rh^{R7w)w>W031dhRqfW_2 zTO`q7Yce-~T=hpjy3(phBG}$0twi0QU#SprV4UCQycJ75q{Ia6UAyQpOa{wfFcOGc z-MpE;AjjjWe3UYFoxWa=N8FBg^PU(vTR1=AG65h8qnrRB(;nvFM#x@Nz0^taAWx2u zQ^F#rU_WA=l7q>`*9+zE0yA_|mk!rlqV$9$Q_<&IEx;*o?8jt=w5EhU0-c8B?Z^$o zdBpi+J4^UPh-AD6^@%4`y?{sr+lbd&^}+dy;19R_UIX3_8e6vD0j0u$BXUW4DvW)rATB(dukfVHI?^d7Px^whH<`X_6q7T1Vc&Y>ug*jF2|K`X zU@jq-OZejXk{)eg2JT-3z952X=|J+@vm`RpSpf~>qpr(>kBefKi)JADEhr99A4`-p z@J8T8uV!3E(_!DxjS}Y`J9&1!Iqo}=MuF{>?M4b;^TrF1C69J)XM$32VeK3Z3=@x8 zFXaNht@*~gwnbbZErQ30_=Eg_N8lCV8wvvfD@ePT z=6ndA6V9O#v3q)Jx3nmd2e6zKZ93Dq-TzaB$!X94!}asaY@+s1@E1ja&|I6e~e< zzRKz{IWAqXl8Mw%mx%sYyci#f&j{{Dd~NpsVy|(++~!fdj4_Ez zlBxD!6HC(+N!NBsXgXxN_(5Vjai1o>Tjhc>^N%9es zj~O@}m^D(5C&!~EpQYiDie_2);kP@TQn8M0kEQSx;#m#8Mh$xtzth1G9E_hwF&Wmg zWp#s99|x&8vauN&%B5^W)zaS?c$7VAme#?oh_XevRZLjZska+SzzDC7be8kN+kShlbZhZ^7675hyhi9uOg|P`PL}%t!&Avyn$~k z%IW5tWiZJPKkb@hcg|d(wX`C0nYt<0GFSX~1#>0M)>dEUHOV9bzCK7))8!4|51q+! z@mi{8kf^0OGY4}tn6Wj?af97Qy@O5q7GT8*57#UnT+g+I z`N~1RuPXEdZp~^LM8P9o=NNFCzf)~e$yAu$xjZL&Rwt)tm!r$mtI=B(Lc;`5LGJLnvDM;8ULfDSbDFTs1#~^y{#}h*-WxYd~Xw8HwH@PML0O0 zTpwn$fN#JNnxtUi%6Q%D?p%2?aXegjbkNIiqsPLec-^@>;Vv#IvWppF(m^X6?e5lI zktI!&wr`(MXzTV&RwT1ed(G%IzRYy3&-k*U=xUGlhR%$7FwACAy}9JCs>lVbc^SWI zs9L=VQ_F{$zBQyB0$9P|)0;A58AP>8TN5OtpS~0u0js7?XSbRFtEq`Jom^axzkC{h zy}0~*ITTKQITa>jp|z?Kn~?C?H2yw48D+2K}E zP130=$gi!#04F)i#Q}!yodvBKi~+WbLj|LBrtiPq!(tK4X;MSSnx(zUkel>#g9;J z>(bA3sT}Npz;~fzI-)*94*(+=bUTKi>cYw=*@E|y+=cEpcrJvFg#!dn(*U9%%Z9E= zhv{_|{E`kj6pGA7a6RK8iqIFX zR}Xn7?;N(W?Z1F+!r|}B2XK8B0mu~e3R2^ZFNlW85t>?1eNS$8!^c3l306QAq}I$% zhPRjTkVnEb9s`lSZ70VVqOE;l=@aErLaoypNwD`qR`>0>$lm z*bs!FlqT|&*E&(|$s&J^uPKA=5@2kV(68B?&4^sJQ1F0KY=IxnqzU|NO-3SOP^ z4;nk1;@>Py(c~%rV6wySTIE+iviM98vZCOq_(8L1CZ>)!mMQ;WTD3E&LVEduKY#~Z zu6k=oU7~T9ih(4do2v%uzstR_Vf@TpWi2i}uEhns2;@l66Ukd8O8KQ9G?x2;Fcrxw z&-Il1yIFneTGkpctBJi7C1X z->0stRkuLr9xlJ?q|qCf|7+xs+`g3*OEU{AH$j|M)&9#pTwZz7s7YuT7L(ov)Fm@x zLq=4`V}Ttj|0$X&ce(xAP)&pBg@k;??bi%svt=~R6fY<<8go0<_^|a$rW0?4>``tZ zyAiK3LD8$&D#&>`+)hjiaG+V3UQo>|+QZY_rj2%A`YvCsuWuQ`#PEDa1qfBT)v-+T z;=3x|3Z4>u?Rs!}nf-8grfT*qFW77q(@1EozXb?y-SMu|WmQaGTY^kxT31+8aUNnf zC0f%ZSE9{vLLNA%!GknIqvG@2nBw%^QY>YSz_1ezNxrNfA74DYL>LnT@6<=0^;~|3 z=q>oE;A4kj@GRWft_OAv_hMZigKsFLLO1$G!3%74@56xLw12JXFINi4UM#}k4;SPE zW;_gyA~ES5v6%08a_1}Ci^SxLQgoUzX#W^+513?M;CaC_@ZmA$1i~fN65_LrN5%@F zesY~C?JE)fgscs}!SAVzO8xiM0&%sl%8xJ@^bTJ<_wg1c0#YFiX3pZl_F`{7SUfD@ z8;T43if+s@!1@+;$OA7}6$r5~uzVm(7~E4%?#ZblZG6uyk`RECi z?}pJ5-uuj+!)k-OrITct@##4ANU7|sH(Zai`o_QU2oBH|Lu)gls6E3%ERQdahvlX4 zQQ9`JW0>+Y?i0L8R+EyeWN!j+5{2dJ5f2vp_X=aMF#B-nQVAC?tylHn*t}Sk@65i5 z^g_g1a>f1FKn{A*Gk#yK>*x1G65%?k$NF89PKq){yZZDmFlku5Z20E9JO|;L7ESX}rxA0|sk^k4BP880@(3IA* z(U>J~F`EoHgb6R$U-v7Q?uvJc4bO(xXQCiW5*gpC(8E7IESHPpj~}0(pO5ai2s;YG z`;Q%ztI$Ud3xg7_ddcmrm(}NUu++mAnPA3=Crg@NwGvm z4!MlH1~#+98SJi=KgSYbN$(`&(%xzRX1&KN=vXb2RMiHwp`z-R)`T`RHx=7G$0H!3xA4p8ed()EKa}RWxu2Gm#?2s z@s{7=n_?6KUp9wil1VDu zVh{_|9=^p;IABawO)Q^10v{{LTOo1+8?LBe9U<-%RXAqXLo8>DIwMu|Nx71*$ zLxhQC=&yw^iEA^MynK!(>*!BOQ}|$Ns?IuMOp1Nui95|y_=!73g;A!Krdy3yaBnUv zv}vm1_bM-Ba&U~MXo{}L<`h0yro^mv;FBiM2r)<_XvF-TvF#BfW?lA{2%1mda?0wt z^erc`R)tZ>J-n8_%{6LD-|9@axga+>q zwgH*|gW0PY`7^V?^_=+t{}Wgr+y+-LeSjO?w!f@uh3#*E_Ef4$Y2_X+ZU3~<+u}C5 z?Q%_GMt+y;vLRI#5z9SX+U04ZCdRkG{@DFhsBLf?mbn&uUUNruQz>{N&A1Jw(cQ#7 zu54_wCaP9d0SEzc3~JYG0EA%0#3E{>iUjD9u`K~1y-^e~Irwdk%BOdPrbw|aw+^@% zeh#rRI=R7*bYqM{rYHtT`4KmY*U&9Ae;fQVxlW&x*YBReXKKu7ituo8*bjkWfo--m z0;9Fn$T1jT&%Ol);}ds*>^WF_GdrBQn6B;yxlk?B>QzalXO#Z zh()bXb0S@5m6HJPF>7JGQr04kU$89?z_yR}8;Z;@+Ha_`EbS)RPh0O@Mf+7l&sDgG zzkstwCl#y0o$taG};Lb_R;=* zw0|G%-$(n)(SDt^iuN~>01b=g>+AQ?{>o^-Rf_h<(S4OWIBU0*+9kXJWX7d)Ecn;HT5+)Svf0I@dz$Ao*KjI3BqLM zyAkjMKaCexVK^O*F9Z~&Cb;$>OoxwH@gOf^)#4Gyg318*O)z4`5o?s;*U7(01n_fs z$*IG%C^jz{Atd`qxO0dEX?u8Wu=yN33m7fvG6En;Tmb@qr>=X5cumnYrm4FPoU5v` z#*^P2?r-s{c@O?ERb1ylM|eY9$Wdsck2Xt5SyveeuU6thd#EtUg)xh89YzFecG zK%Z=OFUQs#`+Vi#w!HxPYX5=vLT?|+Mz-h^$Zme)`4=aHe=ersTzFx!#wwE*xrfVd zIcfB^f$WVdXXTYkN@3-A*Oytla(cLOe=BC2{cTB#-jO6bxew%}k>#2E_?N=nmIcUEu^OpGvZKlF>9ss`(ejc%u6(=pKqc#H7r5Jj9V3JzAa z8sJS#OOYFQ!EEK>JtkPd0Yo7@#VaAaECSoRU13=M(d`(CHBD9S8j0mI98^pvdhzFB z@aS|kRd|O>EQ@gOf~{+VVLR~LZ_c(oo@T@oX5ggVI-Y04JZT_K%@WzVO?i&6K|Vmf z*D_JMUi(Ttf1sW}@SZ2aAXx+<+| z7LqSh5tiw+>T$dJh&vjqj*7b<>~uUD4lepFuF9nETKsXikq6?vB^)4as;ffI9$at! z5Crp>sX&E9UhquC2(vkC z-@(!-_VVE+xeN`fA3oZ?d*?)P;TKp!eqQ&W1qAo;|JnN&=C+Y!T@?K*h(0l~>|;{K z`{9nePQb7l)*9K?me9SX_uUf?h=fFpNrFv~c5Cig|NZ8p3Is@i1V~D9ce5Y1L<055 z%F4{j{3`P{9^+=VTwGY%3bn} z`&Z&Std2$bVI=h>edRP0sz)Z>^F=bsY&K5rF~K89vf7lI$|(NIW#5g=v{)c zd!C47p2R4NIaZw=oGAf(mN55JiNDA&xn*1=i^PIvpt!~`Zv}`Sr_)>!$w2YY1FEY` zj34nsO4gM3lwo>D4n)kX2_$Bx$soJO?FA%DC$l)6qnX7dyiH(6(xcQl8Kt$QEPUu+ zzf;m-gAlp9OW9v@jk6ZUO{sZLca4K^7nCK^*1ZlnE3Gw<#<6o&8k*C7G@9W);%HP0 zjI^~5cICM||LNlmW{K3)PJNk(?Z!&tUHf`{F8VV&W~F5Fb4vtWb1e^!L))`bYHNp| z4tkG|7rJ)LkUX^3{a#&*(+S1w4?Z6Bc82#|iy&w_!~62I_}P#Ae_&pwbN~AC*Z!xE zH|J4L`R|M9z49se`SR0;Ptm7qI0;_kQ#6V9zg~UvFW>(B;es+c?FIrA&P?UFot2RS zppG>R;I~H#0HHSB#JiCK>pXQr3baKE6rrL{NP*T~jX!6e%e`Vqf5{M1tGtAb+T;Wy=c^e=SHb5->vA;f^{*&wB?#q3xG zGqZBrdm$6}>iyeUMOzSJJNkH2bJsfx@fNn>Ij;@R6L9TBR2Rqi5MR)i8H1^)xoA)( z=Vf(MB0xTZ11u^mQRZQlLYO9-<01ThHIFi&u2dFWX5xi?fgS@!ydxdT^+sy6Z4wVg zLeCyljoWZcO+Pl?!EB9ppt2-67E(c$-52$M+4xP*aL$Yuxc-=o-&Q|!7LgaTv*01u z)z9I0scUrP%%f!fQkKPtrV#PGyVdk;@F;Bc;;8Ko88e{?#H?vQqv>2@?yAXvB+8Sq`T6n<7M-L-Ve zqp7Ku9rz7YZ_|_pCrR%NPyeptIgJb0vTCfu33_-RnA}?LvFgG)d@t9qOvAF==FaL$ zzt%TgERw!skwBF$5-jdhx71g}dYGC>gNEt_%6^SvJ$YS&g+F4Wz}RlfVSdQQ2~|7_ z(DlRkl}dva1vwH0)0ur;N&F2f`$paZ`!ro-|qypCg^;^$K~<@Xr1<+d1gt=SC6h!w0PxU zitdK_)sU3BcMc-y6N6)m(>d4~I7bp6qdeJNjA;YVNnaO@p<ZfqX;%G$Iy_Yyq# zJg`~K++O<{tc%JWu-&Lx-O}3D7UJf2-!m)2X>UGWl}2ybjt!=aZkOMm=i9)s0oe0E z1CfzokWGbCf|D}fNkK_|pUs*4!f%%5axksnv!aVCaMs-)ID3GXMnGuIXMxautan>B zLuR5RUz89nmI-J2^71#MHOpPST6Oi>(#*<9q#gjFp#{|$!g<*&-dAVMVS+A5CA;eg zYz<0!WZyRY+hH;v#p5Bc`z6+C9w>j0mv@tRIxRf$d$-t^P4z|7C5Z5Wimiz~aOsgn zFkQ%Xa-V`&eNbM6(e=yKio$OoPb}TjbhnOmTE1_&mZ3KbM)tecMIU>IV>pAAgC8$@ z&r`zujpj+hZf7V`<8V< z9wwuQ;arqIXOgBvWQ~{DZ-Us}obgLkDs!##K{m%Sl*(WZgh%}7AjUjDMR?^lxx-T3 z1g?c;d7$>DgerxV`4&H{A~9mF@T6vo_OUK{in^8a{x9>SG*6PE<5-sa#a6}Y_lF5` z4J|byRA&!8&VZEO!RTjHDYP+KhQXm}ri`=cJ%McD=>nX3ru?^vHRTDXMgGcAUR>fj zG%ZpC&JvD!aL6-{J;Xl=!v+jV8uvAVp8PUCLV%DWzGC6|8qki*yFE5tm_eV=5W! z$$8FOu)Iy`D6|4P-zJN1h?&JY-il_?dg_*>J8rybHtko2`XVD|2?jyulhy98r-TfD zWAXVZ_V-ZUktMOikypvrLY@fzuE?A2CFa$~LiJ*8?8DNjiBj}tms0dQIyE~^xG8tyfYf|9_UI{53%| z2cU@K@dKle=1cNYP0}Hp|Iv$-E$>I{LYim)!k*yUQJl_s;&iDP-BU4=Xc5nc%y}=~ zU)|_GDz@tChVk-D`5D8OBoooY3HkzhU|Vx^{a+cvclbN1cD{)M`w&PsSSVm>z=Ii_ z1ra8JrVk~f0t;e!e~+HuuVie*pxWoCO1>s}N}dK~g1bcc%0Q|}&mlSn=wWuLe8b!8 zn0#A!JMe-u-&G!$_#?^Bl=s;;yzAa$qXjICQ8LZ>I`L#V6{Ex1=J|w^bAL@@q8*uU zG@7yUB?Uz@S6+PlJD1e@`1h!f4o+pdWb=du1bb~cNQ%s&K%zb_;Q;UV6!(1O9eT>a zor`qbBI;G#`5~^8P?eRJ8EHn6iO4V89z00aCE)|zgTNk@ykPTeoUCpi73)@*mg#g# zSxb>3m|`SfBoiJcFD#RW%&UMr-uYjD6@JF<=H~)(etD z=poTe$Lu?*qkjfEsjob}RB`n{__^+Aj_nZ~Rx@-*^kS(-(Mxv}G!MUd+*^>rm)Bu6 z7#qHS!Ee0w(u4aO{sDH*ET*K4aWf|PF zYLRv3VV{m^*s5uNh968**Q|C$iz?XRjv(NCHb(C*+S)U`4}KWZv+&_=!y@ix(~iKz zr=P>FU9sN;hG0$~K6>l1iA>bO2pI{}D~Z$0q4rA3K3&BOWfaTzZTKf)m712Rs`5 zgxbW(MEr$lJ)#%5BX}DhpgGfQ@lkpVyTu=5TY@A$b;_f~UqT`dQ571)PH?RFHx5M5 zHsaqSNfXgCj+lDFF8qK$MRE}_v4256{5qsJBbs{@($7SqAQDsad6j92X#uE7oDO{$ zMf5Co&oJ=Gjm*Oalxe-m{`bVpU(f>=W^D1&HB^{R4iB z85Oq^Zw#Nf0sAMaA)AD}D%5~@d_``bSsFix_+7!7yv{-hi2dmkKhSc8q4+ppCgCl` zTt@2?(aN&8UUKW(_5Qqe!qLJwl62EKXBpX(MPENM@pTqA--J$?L!wLEriVQ zyq^QPh(1p(jD+~%26?EWP1?f9Dv{huv^=!I)%(A`5v;NEjlNSn4Pe z4GH-c`Ydn);v;ID^^BMx?-Aae;(6W|p%{T(lc8~!O6QJV)e?~JY>xx zMWfgWQf)?3O$jX&@|I$;gpJaG#PYDY!<(OM9M*MY2Na5n*;I%g)~(F%tZ#(^B^kp5 zWSc4~cBU^jvDl_O{y?gwfRz*P11YtH@Rl}D$fC~|AF@D*#2#kzO4@QP4*6qZN8VL| z?@Q|_64E>h#g>s>1iUC-cq_DxbNPKN5z9AZUpzw%hb-@yQ3IlQDD59s)kMUQN5dPNNy>B(hLK=r z+9r|Ewh^;bl^Vy#Zm{tc3}grFl*(Uq`~QniBO}$3=af5$u$v@HuQyfrYAzN z7nmS|lOw6C#C#;*mi`n1f^BYQSKea0Eg~tBSrF1V#O5gYfEiJ2gfNghLNEzi+$^|@ z-Naj88WbeI$?%qjJc$@yhJvjnHwJ~BE3}{x%1r8rNy`Q=_sMcYNcBK$AQmBkkdh&b zc~%3Y`*6H|p~iecyihzMG>9;N17TE(RrFV8P#{bSmNG0Kgk>t2F%X9%UkVJSjV}%x zg4Se9vd!d62_5)C?$HS+kme={HQJUzK}u?j#w|`m_-82QNMD6~ievkd#R82iqNe$z zL0g>dezFsSg5GjW{5uZk~C%EHQHWfHQ{D^8kh zV@8sdc^?Vozz54f@Eadi{HQocONk#c`J^5u%`V2qQ<7>a@TCbK@kqtu@VTKl7yE1% zv1ARnm4LS|OFZJjfK7d$Z6KE0Y=udST^LUx?>_E;CrFkD%ORm*B`ff@h=fJM!ZVP@ zMJTM5(3hq~5QtN(TuEtn$gd+lp^_pAB+HWF7ly(Z3#=TK@X(;>*a#ypOV@sI-z>}XZ3_aeYyxAk^a*>NCY)@&1 zNjoDbG`c*{NQRSoP}=uWNXe6=Ul^j17*oiige?o^NR|MhRBNoSgtvj^46P%rrJxC$ z_IyAW=Rt8~3Z!R5N;9EBeQBi7XOYlRKRuB9DAOkQ}cSefxjRoF~{FjGnP`0@znhtj|b}v4&z#Fm8i5+VIUrZd|@!nexy3+xistzsie#qA4S>N8a%aVQnme;~ZU0Sgp% zugI}R?4ymO*pw?5NNw+nBS+!mj95xUg)>_4s8l#CxP%iyx@baH@J!Q42r%~i(HvN1 z2p2Hh4bntlUMHe3(}(Qj4TLom2}h66#LO?k!%b3=lv=oQ-Uje#;#m$5lc575Pv7{F(kWMHmT!cyr zh4~T47CDB*)_Noj0UWS2GYt=a97v2e6`IBZn)1PUb!-ocV|yrkD3S0Du%)whW)BNLGwT*QG_e_0IO+>Oek84UpY8V` z6t06}4D6fWQ@QXQP?zPidmzsC9Bo~l-G%EC4+raKcfWjgXZp!Ai~J`P{z9>VBYDba zY0mP1H!?3%v3NrMvPD$5zQpESy(<`zf2WhJ2!{xTM~0U;z6Zim6v9bZU2N6z375}= zYz#?GU<)RYik8pn>=UwFC-p|c^+UWEd?<$ahmc4w+BKK%8`qpsPswu zLE+u=h1{i53QZZ1q852^wgD)-3VuRBs7m+=fu*X$PplqZ$4{(YItG4XpUhHXaMlSx zA^7M7pb#d!e*#cMf&Bgipf~|2d|~jN02IRcP9C5WfWjBN!ya6@v-}f)LO5to0E!cU z;sl_G#6CU&D54X9qOkLW6M*6bpooOI92E-T1fVzpC{6&1-~^!XPXLN25XUA~D8hI= z0Vo35^a(%_6k>#T;R!%-0#L}4>Ip!>q-3M@1fYn7Dm?)xP5=saL$Q210VoPTek85< z6M*6bpeO?KR4_`{OwBx~ zU{sgXXd85u6|4%<20oD1vaQk(G1uF3RF!(4%qQ_Q|MJkkS`NqYmsK4Uy}rgmeH{W- z(>$zw)~)8#6^dlw5mA$glWR7l6g@;PV}{R$iVem!2qA2lTi3!$U$oeQEt>hfDXQANH z)z_Aa$t2+iQ&nH~lqr@dxt}bHgt(YkImgl`K$u)4SEbCjGt2-x#r(cVwgd~TypPj4 z(h4mKPKHVX>)Qx3r$R44+;7t#F;DAs+haiNuUtF{s3eCTV`}yx*5A1wEsCN#n86eV zlwpY;MI`?f`P4bR=O!mmJsnQ8Nt8lS4Nt+~mT68o6q8vBMEIT906s`DE2wM->mKC` zOy#+pU>5sqJ|D&RNss1(QhW8F$XH56fQGAq(85iy0528n;fh6z45omYQjx`p6$a^i zu$&Ciyr`+flLXW79`*nxe!Z&UTPi{WdvQPsXva&MImy7DEZzeo8pKQN9^?g>f0JDD z1y^VS+mg!(Q8gqW7EIzEs}xcm>IBHB2m>^RUk9)#XG&PNU2yqwOijzBv~IKI0<_%U zD4S_b8J{!dBd55XzEAs!l7*h)U^fGc}McwwBYeJ%ddCUFCENoAvYi^Xm`($D6uFq@2)?6IOp!RSJa{D^c0bCv2|PJYC2wD_4>TH?W*bE6szfejncw5SJUzO zn%d`z3a4s1?W^gO>k@RSrqljZ^yjRmb1GPHDp+tTSa2#>a4J~v3VCn!}p zXy^EAGCH5JT2|E{+oMcYC3*JKmB%VV0!MYZK0$q~Z6@#0OJq54o@zFI{|Y6tu&U#q zutXMo{a7U(QG9FaW{p8|w3W&olEY+x9;#`Irj)44LN3;EI?INjcu zEC{Kp%GD=VUBe5S)3;oA&E6AkwwN^=$kDrnFbk3iFFF~?Q}Hwws|4zeA2ijz!z#NP zwpd3^U^8hB!F=;ok7(J;AR5)fPNt>f2f6InAXq;dB*XN6o+P}gR~eX|_vrO}Q2hIN z{tbRC4M2Z+NL3-tvmH>m2Uiu+Oh>a^M?Z2|A=}Wa!d7ck+s7y?WSg3PX1-tsMHi7_ z+n<4xUI8~Bt)LKA3eg>^6N1f~p8m?y)IBQ+@rY|ix_6}>?@ZIN_761Z*s7&{rk@6*i(2ARPJw=7v|;H&;_9M*=*xQ#zU(a!iDC%ZM|aTzaZf@_ zE0C#5#0{ZP+=pOnq_}#;W8^Cn;{Hbv$-733Ko|GHcr={jf``qtLy#rkx)3)lLqS6E zJKwPsSE~eOJQS!$qBCRf`SMvPlQ3ZSyeMK&0q1jIY_+_^=m+u=l$>Q)EQ`-wgvG@v zzMv5B1s}emCQzi}VjthV4#X8ZL0~a#T0FvMhQ5G+2b_Z-6!*dS$^oMq8E(jb6n%+n zF=25rC6LR@zlCBdVx<|p7|1&*A>T3LRbqf@flkHc=ey~A+nsLYOLh!bj|O#*hT>6q zWsRxg^9?Hoe2Y#w&xQQ4n1`H+?1SbUh(#AyTKS?nbBwr*7V=b?#NwikFRsV&Ela*D zF7{p!3ivP6h3QD0FdHLG&0_3}CSlh8Yv#McT z4UUQp8dg4DqhaN1yHN5#KJEA#w+%>MQ!UHdijvnlX~hXU>~IM4oI#?ZT}r=DpqmD}V#olb>cSa_JxTboc= zSSh)c4};s=j&=~-zMadk4bWb99M3Y#KzrNJp95$gw1_|`6m8d0Deeg;m#4W zESi25u9|*zS#J7O1WmuvUTd!IRbYz^@J3yAw61Xex7R;^{NLx7mqn3lIl5O4$Ec3yb0rH5Hhwl6uI5kZFYckGeh&@@t-p9BX;@WW>gz}ip z=GpJ*1aFx|fQ@Rjbxo*sjidFc}}r zb6Bm5fuw9@Zp1G03jHQycSjG7xT;6hf%{8>>`T_ArD2v!M_0q!{qaoN@$K~dy_$pM z^^TF_+ZFaH3Hr_3`$9+e{qLT$bl}ye`07&}`-@(Vp-T`Mzza8@zDJGB?o7NL!`BWHBC^6us&9j|lhyJAvGV9gbKK)RVLqP>R zB-^E{k~nO+){JOLSKP%Ta!k+}7-+cpWxIooK+E`+gWywGMw@I064+FI_7ZuC0pkiz zwHg*CT0E^x`}={Kz5?s>Sb$^mWbetjr|Nyq)bnNDnzM3|k1NeU|l3d>g3>#)m= z&9A`>L+fd(P}X@B@cQdBQ6~iKoRU@-gxdpU7dTr+N!wKTwH9uP(zZo#YPOTpzMnT- zoa&t~FK2heu^B$^J33$G-$9>?=Sj4gU0lVD(!vIC3>jh%T}RF$LO=y2nlhJiu`(iU z9(TW7a#V3k)ceyXfLyqwUs-`e|Ay@3<)ZVPMgNT%jLQS5?S&O&PnF~Rt1{L*WOfxz zi#{a6)((=%@50VC5rfrI-Qs^g=vOlqJLkZ&t(c2w1rXXiI5h5rou7lFa$`3 zN>LX0v_(SX9FWlt36)s=c9O=07-tsp8D&y*6CkN^$Qh?s1oB6cHWOfxi~&WTjTBTs z+8+)GJ^m>GNjM50x)qp+KPx(I6>60c5~i2_py{(i*(I0|IMZv$gw}mLG_M_|18pC1 zZ(iBNOQ~W|F36?1L9c;3Dt%eLeGrbw(L05zYLPK;KOOY)b{$enFgypfx1t5upG;z| zAxsLV$cUa>cK|pdCnJ)7hzt8JO6hgZu^i)_)>Qg=5_h zax#FyzWkPI?|%wquAi{_d(!atP4Ikj2#1~>_v#xQrQZzd%`XW3`*v=9zp~(&4qJ3X?R4X zB8(aTMI-?1I80(z{4vEyI3=(@0QLgIjA@NN1G~PX0^I{~e~~3Ve1rrO%Ax{Vh?iDFyWz%n5My0)=YEhQ#P-ZWB)J^o6_VENBkj^$;kE2o8P>- ztM`I9#Pzs!pU4rJOQJxI{WC6nV1@{m7*6+v_-UKsahkqxW|y{U_A72AUF)SAZNj+9 zE5i&c-=SDdYnvGln6`o7s@x_}u@vlv(hnBT6Wz$NTyw?j$|5g~qCYB3Y;CAIvEgX%oXJb71o54h1GB)573z(Gm`f z>oK#%8e&xBQl2NG=?L>M-Q}PaeqcI}~M0DezV~;0qnR%1%yhwEhy|<@! zV;f)ajJ+*1F1Z=ZRB(_KCbIV8Vab5c$h*R(fk-*D105%3ho{_RKsDY7M$K?6iE6{z zo^`;G!qJvO;FN@}>@EhzIVOZdzy!~Hv2MDtd$b1H=HOf*G$8gb0|&C_yYiTWAZv^1 z(Uz{>Ys4+f`>^59Y8#y{J6gkDI+9VM=0g}-A)bhCDYpnK)K0SMy!jl$2WtOE41yZZ~^EI;N= zC27WT1>}3z}*H3*{7qlxLb z1m&GGfgk)%%$lxCEeP4o1Uq;$T&z;GydtNo_+OGF4}3jbKYl%3F=tsc*HQ#C?@H9Ll+pDV1Y4v@|>=}na-mbkbrf)P=>%wO#Q!mf#3V$5{f?AShNhX{R$ z3r_@H@$(Qp3@bISm$W#7&ZSO+x~?qB%{ZN^p&XQWI)i&jIvyrl^DE`G0@c)`3@pvu z&YKLl-8Fam=ljv+=ycaW1nx2UJhE?m+jFe|acX%^zyz2v+ga;+vhF0i^vpufFTw=Y z$nzv?kY&-QeR$eXjYX=@>d&m%ff!#&@xdX~pxAM^imNo4{o=z)G}|1%Q-7liR@E#6 zCH6EB8jbig9$a&5A%~bjU|TUg6b#3wlaIMSKHvKTw-i2ij!rdRug{+ki=bIvHM6^4 zI9a`lHa>P3dMy4u^9@xa z;8gl6-}e6e<$|9ZN^H}qoZ0dA!|c$%bg|SE@r+l27u=)2yPWSn@mJk#}Fl+GCH@nA-C^JPdDlg)^Zk-4rvW1lJtbt7(^E;#I8?WI)2+| zKefVbmWGIjc9&Aiy*KuvpZ81b)659Ipn^`NJF}O545FCMm**7+BiNr1ib+Y}Ud%4b zuS0SSEOu^kKYfa>iHAbDeR;lyKdBN-gEtkuVxvS@n z`P7Ob#&XpkY4ToU0A+V!)c3r2xH9(P!s`I=j}Vz>Y#18 zpl4JotzA@<{(&HycU{QXI#Pv{M~3z6$l~%@o5jX+HwRW}QPY3xtE;U9 zY!9o!S#Hywy}{RBPfG;8c%859(mU4Ab**Xa$xmw8@IxON9!t{R(ghGgfM+flrCG!p z7vJ|n_)N3eV@@hLf#kM-7ujdtaENR3K@B|$^LBM~A4`tDrqXF|(60a^cWrjE1?08Im8`84 zQ}=K)OpZ)d`G=t+NkQ@qII9{-u%)calWqsrrTNla1jdTQ~E(WD;Kq} zq2n&TO4VNFvb#3NQ|-XdiaR|Q)m=&Dg0{UyVV-t+7ysVunbT#LcTpNR6RuVXdoo_> zDy&%REMzT@E$^(<*)Yb2|6BF-Ed`NJhjl`Kv9&KXv^`&{Fexa(s!+zRtD5i5?8aB| zpKe$h%+e1jb`SZxUJLgc#u5;7o2rK)4s3gT{tyWN#{h-7FtgCo@SYV%yTYb3qi1lw zd3wCrnT377`h=yettfcc^7deX-mB*N$$lC+t{B(^h_}S71AJhJ*wa+mr@GsZ;AidT zYkhMcZ_#NRLBTuKcM6ol`n$Kwz&0ZIqS}3kwnWz-J`s0^zH}ZN%rfsqxw4vV3e3JM zr?57g&C0tTTRr~*mZ=GDr_SChbJ`HZ3~wHv)Xn_WJ?jKopEMa3kPzmb#Y%aX7-ly4 z23ay^C9E`9s3Nkp`r|&CjeijEB{$jz24CO6UFS3xVHEv5tSsrNU=wiiUd#~kz^ph1N<7E9U+=!ESY11TiGV&ac}}%0=0i(GN`!6F zXB5P0cFGNZm4O(eUC{N*@wR=vFhl@VP1lnfLT}&*Wtx5<0jM3RE=`773Q8Ea+EN1T z;ZA%vI%Jem%1ZSN?KmQN?g>#pQ&-5}tAJ`SLnHADsn9ebVRq!Y)!fKwJH-tc)6TB3 zU?J1Z>$U`XS{S3G1HPpV(&rpxU8rjKqo{H<_<}D3PXDx$s0SbhJ&Gjs3UE&8<*L*V zp=GDlC#T7|-ycs5y&(8;w?ua>Rh(QrSSteGhv<0`k!&)O0^!sBw9}$aH+HKi|5ZZe zSpUJ_QQbz9JJEmM;QM>r!q<1B`zYJl(mY}yyPwMnWv}m9QMu6qeK7FCJlcPN8+(>( zvuI!2==+Wj-ckB9e^$q2(Y@$!)y;C-lqDAZSo1WI@#_{$0#G;ew%~oOZkewXs)(Z4 zdh&UG5L%z!xPB07pH_lv*o&=aSFEI|+)ebOVP>5!&|BTytnDS~cxn|r*doyr?X?FV zCd`AZ=x?}%RxeC?Jlq1SBU4@8iln#cS-$Moyiyf6o?BikVUp&wA0fpj(+KQ%>z9dwtW43!T_YDH(pw0uR0dOjS?-^KKD!$%zHFmie@8-j*x+RfPj< zja+MCH#d$$SNb~?{oPbl`ET42yggifzWRHWcD_6uozHjovP1uyhw|{fzj;@5LVQB0 zj<(&9qmizD3~`~1{~ zfVXX;yzo=#>wbTKds-~<>T?(}*ih1Hv-u$63ck{0mJ$3!7 z$A0hQ#Q#A%J9s~LDz_jh@^e!O*q zKPKg@c^aKWS8%;9&VDb;J}}>@U6k?6rT@PFrf?qR`Z<>hesq;xPyI3S{yKc1NWJ<> zOkfCuyQ;>W(f@$0i4fPdH0}YYuxf8+ksanKLw}>rImI9=jML@~8)bre*)kDwW0g6j z^L&DG7PTEy(ms$t_rQ9z74JewZN1yq4_TK^LI;*o1UwuSTej8#K~6Mc@EAuN6yU~J z*a_1t*W(4z>SXa86k)uPSfhXa=hM?YX7YZkJ_BsD$Pm;84|I`Wqdh|teGAt8;4 z%-Btu27F>MPJadRIJo~Wv}9NLh`bbLF4gc=L%RdItU?zc>#KG8K~~~!eGTb+D3JU3 zlO^YD3A>G(egbSHxqJ+6>*ldz)(h|_wE36sMuoR=)F^uBG9x4-Ydx9P> zas0X|;H*KC-OlKx=@&-KbJ{5EH=kmS2s{UeDaR>ncc1F%5lL_DID4kFkx}Y{l$Yf2 zSF=-v-M=~zWcJA%3VgkKGlt7o`vBd56|q}-W;No~h*EeliZqZ@a0;ElD-_UHr!M$X z^NgLYL-;{7^NMn=(ELaxV1HVT%SsmmP7+MVtw@)OV~x#w(Tr;Bl-5E&*XI_UFKKR1 zXcYTOa^tuJ<1|rW3e1?xs|Yaby*LfGAc)YV{y&SGuwo0&few|n;Kb)8$7Lz?K*Zt6 zm$>M0MU`sGn$4TQ2}Sa|^y*KN0)JyE)fbEg^ts7Z>zS7#Mw4rCo=5TmYw=#cSVg6Lo4_n@)=VwN-KC6!~VK*FkZpoikuGmRTYmVzmX#in>itBD_kCx z+Nwpv=LLqd`!D^GnlD$h6nuc?d1%SV6TX$mEQU^84Ho+`Ja z*qhm@@tWr_#31i`G%tU)8FdwA(6j1w6U$uZ^JsN+!-O%8kce>(rDU&Xy2Q=ens>H` z!quKr=Kz+xB1(~1H@EZ+z2iB=c3U=oFjPU$q?!k@k#Kba#;S8yaY~EXM-Hb(Kmj>~ za>7sVg_0U}U>!0zG>R!VaKg@@`5-ATpXPP!;=wpULZG)iswupmW% zc2jG{WE{uz4U2QI>%tKRVS9j|Tz8uwJ=#F(EX?UwD-iTEB!=%ZIUo!(fFW>_w8bDaAcnSEZvd=OY*T}WZ%PBy^+YbPxkv+R_V|$Ds&ph)0H}Urs3_& za_#k>_%~LJmOA&8uAvT};Xur2_(!Cz@}^IKageD2eo?E z@~~Y;mGs_o#3tWGXL>zd$n=y47MK>rt>thk(^8Q)F{zY!#GnyQ8Qm%|M=|?6NKvJC zJGom--w^xVF1!Jyu(#D-F0t{vc}6VUI`05o9hE$S6j%swD!Q(@d=e|H-T*KdjTqU4 zhN7`i>K&GAD~X~b6K(*j&wW@dxxC)|hNIoLeBOQ-p0eh-yn4?Pp-+IEBGX-?_Hnrn z;9392xCOoeCh1{ixeUJja0xTHNTwff?DG`A{r-O&+~GThXa8TzYcqRfVg!%zpK_T9d5Pu9O_YB zcXdShhibsFSG&<5sVYX&u>tz zZ&=Q*JZqOxZPsf^7cW|timinj+?{UWZX40TmKj34kwt|U>6J~p$dxHpvK;B0aE)#6 z!L2GUGvKFZB-cATtk_1`Jfa+{+3`BHejLC$M-qKsh_p(zUPSa_`Tr4Hy-&t5RC9m6 zp~2bAD)czv*;efIIN1~ff0(*m%j(|VajSdMNJ3wgo@LEWVAG+NzHRTm&#}C6K7Toi z{)wU6M#FPph5s2#waF}XxRPvr7f7`+Wayi=Y&}J}K#%|Os>d;?cZRA9ERJhv<-!A= z6=FhusXHW4X?29wh%A4O*w|UnjDbzXs4kazzp$_sh#!QX$voX_Y zy=@$6yK{DaIDnS-c{unP&vuR78@6>dbJw8zo(Q}nkNHf_ek_aenyhLcd_#9Vs?^bC zl8N~owL9{>StMIjein2)1B2-g$_8Bs^l`ymc9T-|>8$b0&VGBh4RH)((zSKkKX0D# z+V=D1QQf{fIYbZHcXz(|e2}!n>wd6gDQDR>y*srf5s&8URhyGe2wScu8NVooO{mi0 z0u%4yOa1PQ#1539wu?AF^uKULh;3bW;=m}R=9$Wmjn>6Gn%nIrQ>iR-Z#hY_RU;D0 zEYUA-j_mR1GQl5P&H0z`Z1X~AZK>MoEK4`LGpD@jlC`m3i??g^cF?SiUJa|truAX} z(pM9?(qXzjf_B;iw%KSnp}pO#`u2-!+ht|`kh}Fk*CzY=$VLmK;sYO02;n zw5zS5O>UhE@x5sxM@ABls6x03T>u3DSJ9huW*1gDG~+hL=@! zt=MPizi(GDq>Gnk#e})hyI1UxPBgs*?BO9pV#wvaClj+8Q@^pkTbLiaT5G`-*iAI zpx7ObET?&fC{*Hp>NfCB;ae4M8E2TnO8nQ8iQaHppyP?&ms;A{L1=ts>r$=gjGOb& z67LRko;Q=9cC*9fifGmMU*VnrN?)86O|H||mn+pW{y95PY#d@J zk|>~c4sanvly}uBq-4IMNFzbiO@)U;DG()jrKw0%1cQG^dbyCFoGQHoQShpF6TOE< z>HqkMAANU6fZ3fTsW2U(yFA4qYb{;{-2E+oCx87zB|tBXEDE!{8P%>L8L>%}plZa7 zhG{b>V7Pm7sU2lHn#W4arvPRJTw;q}CuCBbVtCu}g@-#SOo}EVBaxZ;=`T*gamY%} z52|GEZ`Jm1kVJxZ5#17@K!8@^W>K>E&HL80w@By-p$MwcLL20s(bate+!_3?h4~ou!|alsr&*7A zHCiYZ7o!J(`9roz){{Qk#!JMwtRMl*YXC{p+Iawu+$&71>w#LvNj!$+tp9}}5=aUs zR#<|RWrz2T7rB_7?acVa6}D@kxqI@9DJl;ts{;OM$LS^l59;c%5EGTG^oxW0Vf*mR z02ajK5OaC+^zfbbn`2-U1MIZOxpbK#I9?CgKl5l!)!KZZR=iHDoS>IFD?fZ?US7i4 zzHc#Yd-xX_de0JbkI{r_oSp=3^hTS`ixNW_@JFrETA&{xhBI7EJ>$p{k$xe)5J=}nz8QBUvV9;7&NKhDs`;|6nibBGUDJrlyP+) z;W{RtAn$o&2g zn}%plmi%TSs|bZg!fkvu@2oi7>K_g6;VWFc1||p%BRnP}w&^4TkBJcLX4@v2NAAvA zb8qDj;J=p@goe@*$q3}@C{tgB5arMk80r&w(r^$MgY38kKFRCt;P4aB)BcG??+S0M z6G^sZi~5JN5Q0#e(1|*`WDzA4@OhsC);gqvR&SjNeW!;^ZkQ|kB+TF%INMuUCytCl zffAUgv_UxC6lT!F5@EE!x&oJ@=CZC6HkpC3O#~wfkF@nI z8BLKz=mdS!1{>>0+vmp>PL6yKGfF(Ssh(};FHcK~d%1e4ef4{Z2@tVV+luEt5gz|? zF~51Un#vP=If+dzI}Bt6$g+7$V-g?M2PsJZe9?=W2@hW`72C~>5&>{jMW`?enhJJ7`k)&x;mY!vjx8X;Jbmd0ZUqARevt${b~+-d*F0R# z`fvVhcE38C-2Y@u!_w!>DiLW#?h6+97EC(G*@401`K01+Ii5d}Xpa9xqAB5wDIC2E zE%LPIjtX7uTlqF3F*#m@vZ)GfAosuftz_J2n4UnR zz|-x*%}2jqH%*#d zg(KU`w#(euB88TACj||!Ld27^{qfR>MnunZjc(x1&QHm+8{skP` zV>RM;T$XvoyuuiCm_?vAxvbI0+e+AJDF(t(Fs*+?+R42q+_1RIm8bb0v|b)`d4+sB zmRGeSf3fN;rz$O>s{g1o;nDGK*h#`@iGewoen0LeRPh(;fHOj%Ilt(kDenlxS!K_I zUuVap9=+!V03_xXOjZE_=xAzZi-BQVNPIHy;BWpX2PL%t3NtH6&SMTll z*|-@tznImh3LdlW5S?wfvlg;@D|cz6=G>$@CD{*gn7Uyc0JlYeU9$}Vtn;bMclC&e z0iwCXgthZnD`d1e8Ovt{>S>Ob9L&2Hz_zMeDbyRsPFbj1q;-M1m%2c9xt6+7yP~@h z)bSJ(_3dwKTplp13+}pnqY7^A!WTj2Log>nJ@{;?D?)=HtQmfxY(4?hCbf8wD4nt5 z)%?BC&%6zbTR~(o|I_o=+X6-hsMLV5co#RQ3pnu_;Yhpm+O)03RJkR$*fK^nm8kjY z4y+P|j>pzzjW%=087I{**8!=d;ymVbWv0u`&HJP>)x|h;8D^2Gy3jUDC5@|#a0kQM zG`3Hq$(!nA#(BEHZA#>nPgYS$%-6TmBRsnO=Mw$rovA|B`qZu?sULS|$E%AHl-&td zlKL!}vdmF{0`Yd0#@W_OuXS-5%o&KCLv?$grzSn8Yvpfl|NcFPU63lvOb3s{wgYyp zigi~DcddeU)wxG~<>kiwovCxqXvc!f8+zRLA+hPtIuz2#9yL3E%!wQCjXvYuFTsv| zZlssbFCp3v&FI#U12+OcTgP##x8w;%O*R=aMwS?U8vqS+x9ogxLaF`zoi?`~9X^KL z;3tXmupoTB**O2}iwQxDLPNkP{Dbm^#?p0qag+f++YSH~4;=o3IBRZn9hxq;m?S8U zXIK1~CI}hxnpPkvr?o&&ctm`Gj1glXDcQI;jJCtF5Ia=DqH~tdFlNI~L?!FY2+GWG z=q!pa6jNz})FaFi!A53dP@IEO$USe4)WL_nOXuI!e}4(j5adE{wixo4kR)*EW&bXr zVGEC%vm)%gY#QCe8kSuZ{9Rpg2=VEA1D*?EMC!Apv!R{UjktD72?c6< zRY@yY@bbF7g>W;dRq27h@W-;)l%qVMdAgL-oBZ2_Xmef zKd8c@qa972Ph=pB59VD;wcexJRWNrsQ|ngW#5GtuXvm{oq6;N3#kh{`BAFUDKzO+q z6mtik2j+DB7XHw=66O`mXj4)oJdqr{yfcfmH=iXG6ZR1%8^5v>NL;4RqXP~hHWbsD zSz66+v3O{2l}g&P@&}?NzPy7{Q`z|tLDqt97Udq9hjNF^HY{k7C@|j@l!-b3@FmlR z@*W1_$1@@Vu8L?;p=XQIjm)lJ1&DkAk;w$>F2l`zUrSFB;eaF`$rs#tCvpK89=U2&;iZk=rao@U&kldrH=8q}vTIXazud z$;5E*1EK65b>2n>Ntq*KNfroF&XHymtnH0G* z`U_iT^g5byUyD@uRPp`;=?#UmXSD+upm}QlL=}v9hoU4E=x9Ksu1%C`2JQ8{5Fc{jd*B2)QJ(w{Moc?2CsZDMc?<%|$}soOCCrjE1r zeJFD=n?No%-$aSIUNZE9=B?2Fk4X5_Ri9A<+s;f&!*8*kdDnElZj&-#2&oW`tCoAU z-3h9hvfaD9ZY}!q7Xr$da3eOH5NXL{%Q<+rC2(_MABu@+yrgmAxVN~thD{U|RWpfR3;;sxLQsnm$t1&$oy%vw)&EnsYNvBprvnHh54AfZSh`vocBIn{BOCydv1R>u4^C4IqQeN zy+qScrLC`T|Ibp~G2e~6nUZGc`r(a>_KP>otP*wj2R{U&h=;`8FG z9UFEH7-k#QD!420F-V<=8jP)i`*7t=tRqXh3-At9#;S#XFF)r zvVpKFGvLMNq9BiLG3G5`k5`<~y6g*Yhy7!lY#hBzJFPCXTk~lxFDCc#ixe zeuyO zDC4hc{d^jJkv)QZ%bS7ntdT$3EAlUsjPxELCnH!0UUnuKHT(Yt8FMuK8f`z}Z@KmR z{GK#p#&7*rr;_f4eh=$lvAd6Z1^0W`&+AW;4HP|9nv^vu*%KNX1*-zw_kp=UKfp+t|G?41rRwx}YQB zP7`Bbe(1JaVM3Q16BdAqQ*^4jEOAEEjm^bmd8AnM!caW5-3EZXG!G6EiZ$Dzt3WFb zp+S^exS~XHk6AECFUR=VL!&7Xdc^9|rTa15ZIn4mRn$D1p(3K)t$=gtaH>dfiPRnP zoM^}_x^@$#nVp!-e53D~dj~=cHtsexCwjWMNo6J-9z_AJoqls2(oN6~djl01+0jFX znr(%5mCt0d92@#6>P(u^(1Ai0Y?toJbWxFqv-gc+(!%){w14 z&4C~Zs+Tn;wnS*==2pF{(+>#(rNNb5>z=}l>qgNQA{8RfBASlR=Mc1~ zhtq5K$gEwbYRmWz#*t~n0(a!&V6NmTA;8T9%@$R^E{WVK!!COxF!sm3uAqxQ1p%lrIzJZWCcM*1!T0k>`zAl97bx3S&*{o*vJTJ!uYKCgD6<9#n(!M}-7+11}&_m7j~^G@sxpH@>h zguccKSZyn%vKk-%QxDG8qm9{|K0k`IbM}lFO1+L|Wa@f}rK-ZBRY`U|jH%{*L$y=B zsMRK~$pz->ebb6rGF)c1AJw*ttSy<7FiOWZq;@>gW8)f;g!^vQZBkz8=aFw)Th|?( ztD&OV3XidK6?<7E8SwB`EsOCJgK%f>_P9-!_~mt#?&l34GaE1Z`xlY;c^TbQrju!~Td@3A^spLm zgWGND=k|Df0@?w{C?0MJa4AbpAi_@B8bT4^I{4u_rOOZlkYW~s>8rvVrbgOc+Y;gD zl`2XP#NXQN?IfF57&W-<$BCtxsOS1jN1%V+z0Y*dS@B}#EeYU8eRx4Tc8MRi`|Y4F zZ~ES3SXfpWcVBG>Ugqy6FY780Y6oXCO1Pk{S+cq-NHOzNq~W+MGRki^qlgy;3g@Yp z=Vz|2tx^1MNE7tPcLZ{$0p-1?U6`XUXqqi8Jk@p&0wf*IX{@UMso8r+QquM-95{Pu zTVGVt*1$(?o|06wczvleSx*lFDJ?QhvsQsQh-vXlj`?ZTVJ_<@e3V^p{!D(n74E)F z)3^Z-)=7ungUu!ETX?n>of7~pHwKOxsn=NATApwL0WIBr-lDb2(cSiJ?yo=$#TaT^ zo3jd!VQ@8VrJY#gx^=g$0pmX)x*p;!*YO^dte0Y~z;?U)bmJ-;e3_V;j(nFPRWkTl zTA#ofM9)*5!cp>8jN>XjZjV^b`cqT<+YJi1D_;gf`MXBQ*b`l+lUyUnm2%$kUPel! zJnf2I%LCm}#O>z|`7v~ta4BCBG>`f|cjklE$y`jP)C%99EJpQ(U?!gWRn8S-!Ja&2 z5(4Mqr=m(z`T2VCO|7HpPp$LIU7PK`B@OZ}j!x2ZWCNht=YU13%iYr+9YsK7akznWq)an-uEr$kxTH*ys)B*s;2}IuJy=sxT!uZnkAd6>lv%DP<)r-l zB9q&4`qqIvH$+jv=E$$roI~=p;d^bT={(&|y6O3xzpzs&Iloicdrr$a@Ll5hOYK}n zjO!k2BXBH%CRbK}yQ7OpC|C^*Q-A8ae5BJXm|0 znwvK-+h2>wS!B!WeYYRVYKJ^suRXfMSHE=e^@Su^y|YXA-y;ulrt{9e^zCgrMwOed z>A;)!GY6w1)e+*G_a&ijH|tm--S}XumCp4$&ziy@O4DkfV1FP-2_uGq%gRWUWGG-7 z_bLsL_lNQ`<1ab%Q*+e-6ZK~Z&o14fKA`|uWrFs%^j$f4f!2<`1#GqfU>!|3JWh*s zAynX&pGv4?No1zp*rKO)>WN^d~2dIJ;- z>I9{ZOY-D3{_OwEx7d==*;Mo23Jcmhsx9a|p%fz(bWtI1Z19t?*(>DNyAvMf_wV7) z4KkkiNb7KlZL=aYA}aM3K+D>U3Sd&xz9~~QgpG_9Bb6*OXc_X^RKKN(6RNaL7C*jm z4y7iP?WTq6)?uRqCq@uVgiK4-i3oKgilq02##cZH9jR|kJRD)J&F()E1jvmhB zJg4v4I1%i$R^rIX4xKv2W>N5AVm#&Z6w^rDV;>jHOB}!rvB)xMP+^tkX51eKhyTDdEI<#x2Ni$}SiU}etC`sCyQD+`fJ<=gJgP4@eRN!|=k8M-CKqGR$*&%5 zt*Oa!{DhVSM0x*vROb4DA5r0FxU`P=!AbKUs)JpvCl2XDL}uk~OuOUdryd2&VJG5F zH7OS^oY{%C$T7ug!8noEKyh4!wNYY=HmG0z!ba6vn&QP3(1Rn9x2Ilq;N{9GvFOBF z2Le&l9+ji$mJEGqDeQMjBW*H0gWze%o_!5GG+VN`t(ViED;LSeLYo>3k%858)oLzZ zv^Ll6_#^ihN}QR@6q-E-7b3%+vS$D+YE}mCI;_CGgu^P8!Pk%D3dMZ)1IHzzj2#^h4l2PFPc(h3Pm$cwy}&VDYU7Kj^L(Ul{QF zJoHWomB|#0Np-6&;?Dwt+x#xuitGRphXVes4NitAKP(t7URI6lL|AOlC7 zA%SvGc}AH6PVJxm@QC^vYQ|&m&?)_$HC!B{ypzJ10Hi1Jvcb+IG=cE;LBk#u_>dyP zCp%m8BK%BAivo+rU8oAP17wkSf^viTD~cBxyL}jl7#qMz9!sdF@xdJ-7Bf(4BXoqm zYbtTiHkAKoe)UxTW6DYZ<+a$C@D2W6nEV9!f${GWYqdVX8Y&r~SZh7;7>7Q&PkybL zBYnD^5VuHOaKS=EeGqL5^^-Vr7)fFE;bVfh`0OX~ z8HEv^Y%zC41}Kq6@RJt#TSzlRwBLJCXmD8RwYaA`f>xMwezICPMDRfMtAfgcl$cd* z5pX5xjUPs$IxS)NL1RE3Trq9_K7)4CtV(m;G|I2HMF_V;e+>| zaP@gmUX=&fU>daqv~wQYv8uzZ~o!BbG4sIaDR!V)oy8bN|M zq4{287m+ys7TPN+kAMde0$12c6j90739|2;r2&;nllVB?fxD_IJ<1`3`p9020h-<+ zs3~C?nutO{;}yC=su~Tk%6;%Y(F+y>%VoJ3qw`-dFeWYHDas=2p@ATuqu6oMLBxc) z!uxrokSP#Bt=G?-S*6MTs=n0#~2OZ3AFdzx7 zP`br$t)u-SPOmmPIn>#=;Wt#=sBpK$e<@}0e*0}G5RDXmcwTGwQj`x95v>ERqBI%l^R(d0UeJx(i zi9y$&4o8@m9Ioj@K21oV^_L(+fg53--7rIhy0D)gSG_;ZhQmJhwn!2`jSd;`f-sL< z9V5Qo;EV!Ynp%XoinY#Gy-~FD#XW@hjIfWWKL9!vIzY^VC^#?9vQX-iA9e>VJ$T3o z8JrYSBiVo`Z&TWTlh2<$74jg+bl6iP`wCFNPS=Qc0McJnCXN{yF#Cl$5<*X%OPY;T z8hPwrDt)y%>c03SS2Q$RGMpmr+-z!+8$Q6xM7<(*Pa)yKkbZ@fI%#Kk5d5K12)hrX z5tsl24?#`p+n`r&Eb2>9^SgLsd2CPso$8uc|6Zylp2Xd4NNl0o89Hx*H!V&wsH;Ol zW+pKi+1Qwb!~eh38~9(~MxR|03`BbJayGmo;wN><R*$h+6f%kkWy@o@ zFFKKdUmV&i>ZqoXG?my%s^GHJxv&3iabfA+=BqFHv&+t>=Wz6G5`fm4J6O=*bmdlC zJKA{I;)=0`1>W#obePIAmi`B&f;q-K)5BSOak_NRiY4d0#5_}{?1=`UxjEarX8I38 z7aj4Q=*_#&`uQ2~;d5t;!fS>OLzPyR;_Q(&L+&*}(VhvK81|oN{Gt5)ku~cu_gCWP z0c}^whC&*n^lOB&;FP3A?@PnH_O|l$>vY{Jz2x2>nqhm@>>X=&F4}9v;fkaDF@7vB zkWhv&!)$`UkBsV^r?+(soz7!Vv)@^?+V$|=BUH+i`XmF;-MQczFA(LCn*;MlE~lXl z9YoXgb)jaAiH9mj&%Z17nfRTuL?Y9N^L#@WN}S?$_4g7Z!J>?GT~EnQZR6A}{U{Tx zg);H|1(LZ$^OvRaEwy8-4bps9%w4(qYe^Vy*3h!kt3(eWJvKFuicSTme@;S}u7#f} ztF_%UTvjP*VJ%c)#T`!Re>WSew0zw4SaDC%?tdL-1D{~j6z?~-)w-1UU3tAzY5crJ!hNBwE@=HQ=w-*9wTyYfm^xy z`Oay&?bg$d0yIp&2ibTF@i${IuJJc0y1VRevp+^Hd&hda@|a8#-(TiZw)q>m^U64k z$<4-8OKkt?7Vcb^xijo!kNQCApY7WlS%}n0_5rc2vl|ro_LL}*OgGGKbVQ&P&>0mv zac7ulBDBh8Bny!D=VJW z7FYgL5EwB@UMVP57 zT7}-4JnyU%-J4MfcRDIU$PE-%@Txb)$tV`(31^W#uP- z%kEm7a~ws<4@%#PpeN|Lj#4a3!YCRRX}gv;lGMkSn^eP#ATw^6qR$ECt3R!N&hNQ9 zZ`*Qkl0KH{pl<$_WKxb7tlQ!!itKfkyH;wYoGiSrmvQU8C@YBMN7I(&uj8?NXCA%D zVzB>S--j6N&r&UOq+?1Aq`uRX9vK=8oF!|NJ)e#4&5*8E9mHByj_%wZ300a_`>$t> z*dx`NC>|F3zQInKfAv`2FO9g17RseQ&7bas*Jg&*iJt_{&#gJV_#-`dC-`5EPfguZ z``?ns*T(Q2K4ObOy zzMbCgY;5jyUu}KhrZQ4j5jwo=qkFyzG`muu7GOimv`ws$%mpE@V3TGav#HTiMPj>! z0sWl+09y4unK7+uxGEyS38cqM=IqM*ktG@@Pm992_w$A%NeLzT;S?|yruW_pJc{$^ zLlep!2sI{EXvLhTjmSJ0XPj%Mmy}e8n`y#g6WOobAxm)I=O7%B9UsN4D-STy!^9j} z7GJQR|El$mzX3qY&5&6(nCW6KM>I2b2Ff2O4Fjgyb5RGE8_@9X!1#j__!ZNcLhXKlfA#ZyXl0jW;eN3oW4(3pAq z(BiSnFRsASikaj|HLvWmFr+v`ud3&f`sq~i>qcskO!VJYpSwOFO&1TaT*&Y(fn7bV zCmfMxyY3#6*hWDJ))l6O$fKCx_$PJS}^gDHg54 zU3S50<}ouEmdz6VrVQGVDtFqRx~dc$Ia_RSSu>i;x+bTrvrY}5dqr{#5Y`L+Z&-(s zIhK0-UyN!UTFg+etCK${TaAtvPN9$1%paCZmsD$)RvSl+&mH4@WtVHG;A-Vr>(Awy zFfu&S!9P?}Waza5|IGb;l4Peo6DHBdXgGa^kC5&w_g={}5o0l&7VND9tuqN#Jd6D8 zCnhZRd^7{Ry<^FRqq2t{0(U0`7C|EiX?xp8MWb(us8A^qs`=wu*1W<5ikvvn=|Yty zO_HHeAC7>(9GEmJsMP4iL$?LX^_V0^kU1uh;;P2d_L+`Dd1c{^ndDsBxaSt$9FAUv zU3W;h6Qv_(d=ljeuZzsl`4WHz?m5?-;$>5~_0?+_9^-PCvh>-wU!jhES4{$-PPDae zZPE5$Dwxx}$BvbPx3QuaFS~9jeix2-L2h)j^Q0VE);YCN)zzT%>72v^P&3TXtwH*U zmdWw@W+2N_+~<`X#vB)a&{g^Acir4QQ-~w8872Au0@WGN-g1cE&mM&XT2@BknqtIO zk)`E~e^x5BisAX{Y%ssAai&?3DXl}%XY_L?_!!gQd5ou6B-oLSy|R8h8!`ACfvl>W zF#{bn1gRZId^&r@o~}@9;TxGgK-ifk^nBV!;|CglCvlJK;hGXJc1wkp!yHD#+H9Q8WDkTVSrcNKhius)gLqQo|Etew-anTLD z{2Eaxh0CY_W0h`v^img!f%t?fOZG_1NnHY5PF#5KXeHg#TR$`J-Z=_y)s(ph%4bE! zTN~-da@(CcON_HC8CQs^yk2;=#hx_DA7%P~~P9c;aMG)`|hPvH86+X7$4(rL(C5L9HLHswMmm(}&Jf!R}<|+CS@#T*+ zIJzgj2RiZV5KtR0h@o3kXs+ibApX1lcmROUj44s!I5Cj!2Q&I0c{TaIkfCEy{~978;*juWa7=4~vtVx0xDBV}dx*ajxce4rJ1zXaV3dSU=vEs7e27(L zb89J2CYeYw&3?D=^#34T-iW+@le}5^uM`J@wHMJ(f=WGe0zIW1LW6+z*%mul8HCKj z9p2pXm>aX3loT3RP~%n8>F3v8JMg=u0gA$n>~2tOcY!5SRV(Fk{h8UmBfc0|O!mrw zMrGB#K~KEg-%HlUD$Lv?bMh=ga)=O^;a?D8BoRf79;o9R)&l+a>eHTS7fA1ejQKc8 zj6pkcka`m^Zd!PgqT{)Cp5{w4rxeQc_@+uu{d1LBo>-7WU!b5$TdHqje=i%!h0!IG ztv>^fA#(}_;83l)k001?XQRf$TfSHY>D@J#=?1Axai!1u64FW2ktcbF*q3p8TB^8E zH$aptNi((Hf)SpM2+WDBV!2klJS(lHT=qBPxVl)gK+@nV>NZ@yDE**R#v3P!lH_{n z$|zT|jADQbU8Q|p9<1QER{OYCC<4jw4P_tY?7QuPb(Dej2_4vsi}lQv6xyu&(B~G~ z%<=3tzX~>jvH!RVq=cdKB_X)=&XZKQe4#8=ypzBwcRKj*3k;<~*=`HSuQ+yIB9xTx zQ8BCRqZmrL^=kQ5WG0jp@%=(_4x!TSeUl~ss|%bd_VETq^~Fp1U33h-%;$Xg8W$c zWUh`N@wqw}b;t?cZdm5uRWN+{U47a`IJ^D0uc5kIz9ATi4zM+Nlo=dNyKU5j6?HJPaU2T<>S?d0__4JY}OLMC6BnW3;QVA2-w>B~V zHbb+Z=_P8I)y2DX&We$?Wftw<7%cfF)Q1ivF-w3*AtI2-tA((m)#SO&QCVTaa4%I* z66g=zRbg8)R{Ov#u70u{huRD*GdS!ckeX3ex4hz?;taF)U&MjD6}5PIRf-`^vv$p& zk3>FAv5!UHmb-PwTxckcjg5e?hZceTepK@EtHP!7LKMJa>GdVCjKZpqzXwfb09fMy z))NM8|C;5X*^G@MK9S~W#a8ACGpL3M;Ncs=Ud!guK#sbwxf zgt{304NShxZwy(B3aS!}NOSjgD~oJhdk_hFLvH{h061ips7Oqu{3r%YZpnMky=~(X z;!NW~eNC0SB=A8*;(7U}0YsZ-9!z;xx4-VNZU-|>-@(=9!;(}~xA_I09#FUWkb+_t z(7M=ups%j=Y=(6{`)<(PfJKSN=tNh``$@j;?)FH(BuPF!pU0XHyiYj1&kH>%-l46J zNFGiYg1au}U%mY=?6n&k`d#gMS^6>Sc+M4fLjh;m$rT{E`4VOcP8gxzf*1(7diGKk z>)Brdq1~Vmo!{*n5jz9nE>!g(K?<+G`d{0$rvS3KCFWl(YU3Rb6S(gL1+39YbD*#Z zN{$-^Fm@gvxiHk!zT>8&5H_>8Hu5n5P6AksOdQ{v=7CCfyU5tDR-nJEX*#r2X}pMS^6ntxcHKdd`X zeF2ly=a+Bz@|szl~nxhfbaE^ljJsoFj{a#qJc`utvVSqxT}hmbBB142sxG5U3h+Rc0C2F!SY1N4*jPPAYCjfWoP{vGYKW>3ygv#x7#A;0N^fnT1!O@>MKf7_+8WJVi~JEB*zA!6kpf6RxNxkQwL1xw|dUrR&k zS$1qXpQY`Bmi~O>ld!bpB2)s+fiExQAwWw3k4$(@vdDC0`$vpiG#9&F!3BxZic+J`f&#|PsSVp20u2?xbabNfPsMeg*r)f;BISpwt%~|FOXU@DAJ5W2BT2=~ z!9LX7T_U0?NoF-9Z^|Aw`W5BQm|ZIA~%d39k~b!lT_9v!JyODUpV3 zpQ)hPiC2E@cv6fKz7};tFMn)BrHlwPGI2lRDLGN3BLe0?M}yGgyfITyN0neqg)x7D zG3E@%?kd%0WuoryyfMR!(2Y_NGF;vAY|fhW%3zHT;t!$fGh9x{&K}+SR5E{CdvBeKv}{{ z5x39F@}7T>`V4HB{*z0KmfmDp^_>8bN|*eB`A0Br%m(YNN9>Hf3>q{=J^@d&O@?87 zngV{F!tRBp_8W+8tj<}QYY~t1>`MV z9PspxMs$K{(kX8H0JS?b8?jC;z6y%?&rI6JKC$7#UIb_7s_WTrPx;VRZ8VN2vk-Cm z_)X!<|K1||M&v=Ql|3T;)?h$lgMY5P)$HVnmR}9|cA0xkoIA};nLEAQ{^xu>btkB_ zqRz~-W6tS!ZmOAk_8NEp_Ej=b`g6AaGYcbOrl1LMzkX$zAC)rz&FS5R9j;XnSSW;693S>Jf2TdXrb4iP#VjUC_7C&1qhcuBZ%g_f@Xrw*QdZ*mG&+( zq>F#-;Ka+D!dPJ`5TsKC5YnpfHLNsE!EOjO%%mtBoP!gr84E?&82cnIQ@ZPtr}4iVIyPc5=?vZEdw(lrW1fH4xqKSWAC3tpAQpuU;y2KNoNtxzP%w z`}3gA_n0^}8C-JD3NTA8T=W5Fm9F!?cix9y^koJBohdPCh}n9%KUGNl6>ZT-{1?Ep zoB)lo|NZ_y*8nvXwz%am16llX4dsmq!%2}sfx_L1c% zd+*-*nj3P9z7DC&6fr+h_Md$0=M|KSaFR_!FrNtU`do!WIe-AgSlMTlNzNRgfY8Q` zzwN9MVJ|DPgq$dus;Gc15NJqnj(}yOaG-^H?L(}B#D)LD=l$9RleJ)WP;<5XZ6V?e zSi#?P;Zc-*k9avZn62D8$BOT#9C6hiIY;Uj9RmyO=O6Ic`G!9yy9mp~37|iGg?nc2 zQ6KqfJmHGV7dRk?OMR53w;J443vOs63800q8rnFGWJ>UTu6|Vn<#;S+BAZCe+ zFS$YQOd(aaPRC?W&1UJbf0?4wq2)SYglzrWseJ4*ReS8J^iMa!k>%zbQ23Dkjc{*| zAqktez!jl-ZSu3~@%DY&eo42?r^P|4+deQZ>tuJGoUr6kZX|l`o*4Hp4oG7rFzIjJ{^n14)k{M1I+kZS8Yo4ixv!_Ub9Wz>K`hy$h@sJqZR zwGx2s80y>(C79)r4%qUe7`$4&zq~FjHf_CT=nHQ*F@M$+gyB{VC>FdGIKB`jg^xTzGoNt^9bxy+{6t_a^mi>)5Hid19mfAqMy zLl7CNeXj6EZURKMDJs<*5`u?HA|LNm7Mt6jgCP#``Y(VTj5y(7J*QAEim1PQ3ut!z z;PK^~eZtiHz3v=E-tZ=loWd$FkY8l$xyT|t$-Asg(}uQoe{RZ~LRTZt;=k=R9QVs9 zqt@TQ>vfm!hOYN>=~DwWl`@`2bR6ZLk6VkNf`_LuT0>@wW#2GrGpg|M1{Uf$2p=T$L`@ENf}ZOAaos; zo{|lPawQkECr%+p!9U^D=1MB$QhK@{0#8>a^gPEqA~WPx@_z32eLv=gN@67+FH|ZB zCB5pc!40oS9M48Q>{f8jTAG^UE!dZn$3?V81Y*(C_uOFoxzErpn&1u<1T;FNh-*Hk z^INxFSg)?Y@A~LvV&_Ay!|tkt7tD?)GxYdWQ<+{L_s;J>@y4NK%wJMEhNNAU<|8VEVDhiyb02BA+5dhD6&w+LK-6r|xmbtiQy8jX%<`4;5N2l+n zwU?5Bhl88oO9ze3yR{N@@S{P;;cGZiFxI5-?tvEssp6@P;UPnt{z9@d|3TGGRJ|r* za()mMJX15jKY872n7*x4b*3r=$TTP{e$Nn!Yyv@W!HG0tzbJ@>Yk`E@H@JqXw7I{% z;l#^b(loy`xVlq2I7gc-1dpNeYm3a*ybj7N60B8DRgq>@o9*v0W70t|0Jo=n^D~67 z1v4zOmDkJ-IlDLcs+xxKYPHnHfnWhG*H}r1u~s9FbQ>F}wvK8`YwWt_l1+Q*8jd4bob{oHbEac@ zw?Wme!1CB8R_KjAnX0`p*OyJim?lwNrt)4ghT@ znU;1y?ds{@sEiih?+2Nmfw!k0p9`>?nVOFjG+#ck%!xK%$89A|6Ji2hCbri~l=dP5 zwDF^kkhhl0HY5yQ?QSlw>`+tPHbB`|*G%e%?@;6Kn+-Smd}bm&ME7qM<|7c8q=dS` z)Wid<>?V=!z(=e4X~E33AA^vQBKvqR0=19{4o2({`Vt6JkiADTJ3Ab{$AvQ-aW?5~ z`oIU@;WxNM3TDh5x#Yw>k;1{=0N}vH`s-OHH#jGN(1zAfG_3=$&J)gGnqIYHgfyeH z9$2UfJD+1ZB6~JjAOhb^ygE9s_{m%*W3}I>GU{0nk}vXA%5h>?CAJ;$SZ*EqfdKkP zQP~4Wwvx+W%UNpoXrk@iE7VD#e;V~2eVh1n;vee74P$8xuK5p(>dw|soSHxOJ|!4D zhlvuT!&tRYQP~BKhS}2f?r;yH&?r&1JIV8#y;uXxxTb*$&mgw&C3jLse`U{o{YSOz zYgDU;|2Jh2E1QDtw3o5~On4uS38aA~zIV*wn>NGXy;9u{#`G;N8|pD@>Mjsqs5}X-(eKO{wZzdOQ(-)sK?d&> zE)k@-(C!x{8JfoFx4#HfY0f%ejScMz&)YfvOXawTTPo5ST!{x;V;|zsUwO+HOjLlz zrfV2CerYY*4g8ei#8ryJU9}ds0uepZ_g{0%bshu#MSi^jCfXJ_(FZ(Dbdw-Aj;w8x zR?Hn#7A{DNelbj7Q3KyIUGjiJOD~_!GcbgmmBy&*E5AHwdA1vMWY2N3h|ig6IO8#K zgvm>2F$9JfsjC2)5^;oGm$w&O`wVX-2pL!Gnj&XkGZVtCwX9pkau52o6u1iFUN<_h z2aeMI%WDC$7SD5&%x~jD{t?aGbxP@E?&5R%^oB87W&PIG`4nAdAKGyp*_pcG`TmQQ zTz0YUit5{gb^*%g1!@&cs0^3ePnE6GG&qf<{yyeFD7(C|eLrsNpCx2Fcb*yW9Si^1 z1IVdxU*Dhp7iVo*UI3eI*hhtv9a?pm4y*G@=(_zJ+g+c{de{{&{EQ=(DM16;lT$Rv z@&iT5S%{0#ARv~_37k^;Poj%Ws8MRWD?W2RHJ+zT-vid_o}DF9njb$$p_`z9mrZs6 zcrTMFK>YV!8a`?UL1{^_in#ABksoC`^cEjmY5y#n(9#Y;X}%*v^9>Qy%>O1HU)%Iu z!j;4|s@x(VXO4ubTtdXmTIzGlSg;)mUXneDaNr1q9_-1{lB7CWpD=yy2`=~?ehBO; z@$8-&RBL3f15)QSO6niE0!wASh9@IXb)Kl7Z;ZhARfg`6pcP6yd?Zc80b&S zg8K83QO5VRisi##KX6K1Z{11nn1^yH;zxfv%h|K->V5P!0E%Fqv{+xOH&8Z;>CVIuk(-E7MGn3EJ* zA1w~I!@#{Ys`HpFe8thKDnJyhqC^hBFyc%Sg+$p(5r3-EA1$1T%+8Are=G^FQg0|F zZ8ij@_9bb-r>ht2H?#@ok_W~NB=I;+nhi0T$EScC-v#C;CRHl-q(VfPzJ}cqkgP&= z3O|(!mR!x#77?&3er4Lt+EH3X8pRBeESgY#`|DSa?SWR?Dr4`R;YX|>?WRz#*p{Fs z5Qs+quPh;g5x0p%Sl)5hTGGBVg`VGVN8+;vWoCZ*1M}fK(=5<9Z2C^u8LhI}jsbKm ztg|>(@02$iZbW?ns$!C$O5xe1vdg5Ja_m~qbHZWsxv8afL>J6WCzP5u-6jndHGf>tY+mNxf9G=>@}vaTVreB9XR| zY>C(R`{QGGi|l;r6r99(!$m8LK_zfOW$3CE0_jnEWi27kuHs51@qm+7diF}$vho2V zRw1woPP&WrRzNbN1Bv%FmMvJTV&`!0N9X|J%JTCjh>V-qc~79sixaHwXCI#jVr~PV zlZ*Np)@FNGxcL(#Px+aGMMfhEn~!CRd4rEB+SK;`l*qK0!J7KU(;G!s zPus%W&9nRtBL=I6c|5Eh$f_vKY#U35sdh5%g%l71<6R$U08bw(us7^yj3uK_ZF6LF7 zTcNxu7)jAtt*bLyVYk9s2kIqoRdT`alI%;h*I63UywjRgautTE`*HPgn(BaV0-Wt+ zr<;WuBjyIZ)5U2=g$^U;QbWsDU$b7VofT)5 zkWzAvZhcJ`%OY0n_+y!#g8VL=#Po49{lP0h+ zwPIMu14pWDVcoOFx@ol8;5Hr?yHS-67&nMnHY2-{E8KLZBKc*KAb_`dSC1lS@P+j% zm_i!4$b1HDAGWHy81ykVQO*EUuwA=5bPj8-5@!bPPk>j!((Osid21}{62rH+LY5dM z`>hw+As$0%gROOO$O5Jz(*z;HF2Ej!ilYo%)aC9%(UsCQGkg_gW3+f_q`hH>W(L&V zdfLlyBgj8)(C$Wex5EmVm=R~95qrbxy!_krqx#}> zO0Cb|U0J;m<>zKD;;gmYL@_#8NUN^7@!oq&a%a=|=hH__tD&doVNP>HbmKhXCs;qv zMnOX7LuO?LwlpY@%`{VNPT~1R>ert5`Jq_;$olnB6uR>HQS`g`2PtZyFB4y16^z-> z3NTtFTm>u>)aWE7jB?))Q(6(a65j4{rU9v+DB8@XlEc2tK017WzCA)k7k)nxj2LTH zpgwn3tk20qygjp+onyWn9Nv_jCoe zeRk)_cwrB-ry18lIfv-*^}&r>4y?f85U9o{fzKvszCDjtNN82!$&Xa$rdMzONtQVd z6>^(9%Z!0^9PhTM1v&I7F3)#Q;5X>Zwyr7#rzZKw%iY}@p;IkD4sYNg7A@Yl%#0zAj(!sC821Qe%^Jy71PM_nPU-^oa3F^wPoq&Qdqe#vB{0HSL=u;_YKq;*m5F4ZFea z*?5_e-6VG@7KD=9cIObptjz)4XH4bQeNVyTZQ{#TsCP|HnT$(PnoC!23Y&K|jfzeY z;mm)LGy=+|zRC5YC?4MNpYO^0SM4s({8K=OBr`RJ> z?C0R09n~6>J$#9rOj(~X`47VM!cXiUhUjQ1wjy`ikg&rVw$coA12o;YFO~rY%eU>QdmBx1U=eh6MqNw2=~$L znhqk-+jOeq1$#xK3bBgEk)hhqyfq_=63i;=mmo=uenW4_ca~_Rgyns(7mVl^ZQm#NVlZ>-}md^(pnXl~sJ*lu)rr^`C>< zERZRgXwY~gTVPO8Wz@C0^QjKvVZ!JqnYTD)y@1BL8W~>hYMX*+9Ne`jcde5WJPd#c zsz>c6;-u!Obd~2`xn; z}3Xt@S>H$QB^^VU}(6|RsnfQb;e?DIQcML$X# zamL_z_*$2iNQfR` z8M5_B9I}Nn>K-tMp5pT0sa}7u3~j`ZDd#cMjKkbrSRfQrQy4A)63e)X;iI!tZc^TI zN`Jag-6cPDs1WGE^j;dU%|T*cM`f^#<0-|%Vn~-2OC5>}bvwXN{Ju7;y!0$x zF!d+1DvZjkI4$%~HFh5W)*moJOdA9M&A7!26mT$!;ce3XyvJM2-`hNBVIM&HBdY-i zdpTq@E=HmXrkCS8U}qkJsL$>P!uCq<1lDZ>9_THX?p7||-3k6a-RaAlM^!!PdSpZtDGgL?Xn^vU@7BE7$!)m^DOJg-AAZW3&VK|Lk}J6>r@ zObS+f&X`skj{!LIuvKgqVW567yMA^`iSRI=y}SWCJJtA^f+E}626!<{coV{Ggn6EP zjE4qs3T-mtG&vsnCiiv#7~Vr!uVU9xqe9?xVHXdsFgJ@c15HHI{9W*L9PdcHJHLpY zQoirR6UmAZtH8p+<5uTF&gh_0ek%lp?v}WbGbAiv=KL_te73Os09AHM4^l*`K&F0^ zNb~f7OoLG&D7SKEb4`9?au|C3n0*C=wp%4_(YZe|xE90A@RRuNX~V%ah-P6v?r33) zg+6_+{`v&n5Gdi{dx>wZni`h>R->QcVuDAedPEc6*@?GHc^?8-0R}NTsl3{lyY<=h z9Ae!H=+tx z_zIfp@I?U%P<1nfKubd*CMbuQGX*Wu(!nzD-m%{_`I&%S&Cj0LM8k+Qf}Nq|gd@*u zHely3yFWZkT0n)zLjZpZVmVcVy__{tb%|ZUPZQ?F&Mm>+j$U}&qkqg zCWm;`I9il67#>8z`Vd|P(g5~p0S^&Q;U@E!c207Xk`z%(@bXr^kyM=}fsoM9on{CQ zqBm@8bV5i94O8=zae99z;#_6XIT{cM}t`Z}dHC;{}8caY6s4b<;mib`Y9d z^PEZ_Le5G~TjIk{Ee-q%Nx*Bp*^qA@64(LijW|z3itu9LIznAt%pmW~jS9g`go!;n+ydK z)esdfShxUzX)A5-)ipV05#oW}RwUmB9^9Gc(2#*&RrWVTIse2b}-BuAHbkh7@VVyv@(a$(w zMoRc53X29Aa*0 za@wOd_xEI#>7Zv!V=eRz2VI2Hf)R$)yx>0+{=9LcHS&dS8b_&Km?6~A+7QgeJ*F9Y%t5>Bc~S5sV{tg5Rx875XMx49rf zWK@bNjZ#>9W&|)jUPjP_V0GNt7$i;(;~~jO!q*%)(m`Nrcd`B6sSuXCkklGwbn3z& z0$OR?<)nW42z4e9Y6~IOnKhW+Y7hg?I|;E%_Iq04JY_)Z#?autnd2~a&jvw~eaR2M z5VTqJwOK@)J0}0xd{e`v8BxPz6mBfOXbr5Y=PY= zp@;-PNQ>!Kxed?8a=>}$WW9NFqE`nA2~H#D{xy+-!-FcSLgoZ;(**giqR&SVBk8$? zjuOHaWk^PVCGP=fd2F`t!s*tBfgwjI0b21Jin*sEYmb;I^YXtL5UVKb;UVgii;P2y}=%oYwqp8 zIssZxBG}FQNh-M1ewUPGe`c-KbA;sD*}?9(!~l*Upi~u?Ln$l~@h`z5;d%CbZ`9!V zs)-W(1pGoQK?6guZg~275+6cjPOilBWL5$$IxoF!*F!eyyuy@VIVkH-a2E6k=Y(Po zKAJ7U{Zs8Yh1KqSuzF7Ky@8ZvdL@ZYGU^a{^UnT@(QG5#XL`z3_P9wBVKZ_TAgwv; zYlfP-RPcyCdYHl!vN)eMe)Mr{xOg$Ex`p6%BrpeqLeyo7jz7lyLnj5b+$_jqvHhWA zVkmnO4_`@OX*{{uTKcAOX3k|Bk{j+vj*vnUvIJa1*^rPG{HbUC5_EDy6*5?3LIQg& z|1dcc$cFgIg?yx7g%x!<(F0T*=U+|#1sRF;_e>U>(s53()*rC6M8_rM)m_u(?*fPwbGH~&}V6=NPelVvUNX-&Js~)8G{$F8%eYn_N`p1 zBdVs~NKxQ-(RQj0b|b^K3+@P4jKcU5uSyPw75WOdE{Rx+yA=!x2-hQeeg?fG3s$p( z#A8AqQfRnE*#(LTMxkA6@^*&F97Q%%%@Xy;C4ZBuZp`B%Y}?wO6Q=cX%8ml@QDPc( z#J_%orsp2HAek+)`5{Fg!uQwjuMesD&?zr~ZFrVZ$qV3kR#RR8`S5050Qu7M)_mvy z!q8OJsAfdaRL#@Ox)L;{hc`hO@}*rhA2iF-o~P!6Zf~vmV0bWvjTAjwYd)B|U6dHF z&#v_EZx_i+nTjDv#sG z;O&J1yuoRgR+$VP&9e8dAaTRhU<6*KLy-v6v~;yJ3d+Uu92Fui@{H4FuL&zmxGj^T zV)p5ax1EYaXa?r#@0b|;B7Fa@v7_}8qq^g6vSG*mTFzZ-7!vNA1u&vN#xzoc(jJm6 zzv7l(iI!ijT7HEsztY~mHeA=(i%>YK{nZ9G(KN4?q;8kMJ@hek@35gKOu@>rBMjpbst^WK&msk&pjmZNRYk!l-Svl!e;6yDLAr#ECsm8rRUTQj7}++Nh0 zW*C-cw$6}RkxP_0w8K6ZNx>TPpwd{#2-uznl~bnmwT^`=a*5vNOs4A#*0`MIOs2?( zfAUPGYbi|Yb$gIaf!m5?m7Jl9Ov?UVYlO57{vJba%li=;HOFkp6O! z=82Gtx~H_(%-qy^<;SB_feWJ1aq%a zwN|p^t$p+v(~W+|y3@ED7|(Go;+3XDE)ky2=(??BV+A&Su6X!N94%6LJn?9oLU08a1TWbGvv~;DW1}9ssszi-ak6Y7~ zdVSq&P@)bdxi-{erYqghVLe&Bb7hV6HgcABEOu`{PO*E~s1sR2;LlU-zFBDfL@MLG z&=}=SLbnGwZ5nn`g$0^Q+Lpf&`{*TWB}Dn4N{= zrDj>ys*)tIZ6^45HcU&BQFG5U^^Iw{o@bfPn<#n{?asO?>&w@bhSzk%TxhG|>`|Xy zOl*4_TkF%~AVAzZy5s4)-rtfr*3@0YrOdIdTH2Z_mI-}-CP?jx^tO+Z6&CvPuq(rK zJUGTRbyZ)XzOLC~QS{ZK)TYgq1@7w>WTw3-apoR%=T+NQHLg3~(9CyL9KD8(_b85j zF6X%|SFh&&rX5rrU2~g!)5N!B-?U)hawYH8CmZ#M>%Lll=~>F73yIfjzWcW$-qXV2 zzm=-h^47dnOQDX^CmTeq`)d8A=P8fQ{p*KNwVefiwDRa+wq&z(pj`Fu=kaujwe>6| zhU4;V6yJkEoM7cXbR*owg9AfnsHhK#oORozs%p7fd6QChY_EQk%7-^LY4Or3fYg76 z&{?OQq&t>V*-5a^4b`mQN%G;1om9NEHuKGmrFjljTz~r5ndLZe!r9_Awp82g7Ch5E z!_eAROxIM)u{6)nDxFkHrW>}dI{G0c)4SNYt%6~;YMQF)mIq0;`*Xy@eu0y>l0Qs` z^K6oItcz}1de=yfe=91L&S%S9!D@Y3zMQ}h3o3M|q?5^VnynlHT?0|v{;Po6e-()K z;RkO2)x}!-ue+CaUvGjd5)Q@**mUD`_IehhlcQJ6iOYJ<(tGsL@(Gzr-PTg#5b^%Y zMR0M`s;V)ZE6k>HcaI(6GKuj!76Bwq+Y;c?Tnk0f_5hb=dd8L-fZK?|z6RaV8X{cM zo73AG;gaqk;kmF4*XdLPu$3U9=vQ@D_jUxha433<02k;&&3z+nEa>@rEA*%7ea&kd z9y2{t)obd(><*8uuXZCZ{E-X&b@wLjSMAR(SNm%hYVsv9K9C!)s$hZ-p%Ti9q&d|b z<)Tpg6=Jm)e8LG9rF^vBSJfXd|p)73o`N|2_hgpA0 z=lO!GQ!C%%9GDYE&UK+>>1tH7$?vmtj#aI>961+C2M+!hJVNiqSQvXr)u%O2`IaPK zayZWA%qul? z>*ZX|`ffSL;~t$SkrU!+JbuX2{OpJ4h+Q>!-JUi?B@eB~FTU5P@V6J=OSe?t`)7lg#07S>Z09 zwhS@Zo`tgP4W|YR-uT;O;ZMuy02wD9H#+i*C(z$=JI&@3W|i)~d|lTzYS5PBR88bs zqm#IWMD@43$Gqy>Y-+4c@X9cCOQYbG=4h^Ie#XBnwN0z70$IGE)@S~!bFsbmh*P<`x+_k# zjrIPyBkVNOv@=6{lDL!Lw_f4b6^z&0bnC7jUGwU$UfE1a*?aVu(`r~v!4V-GpDyks zw$nOM)kdP4O+;0XLDYR>POEVpM%5>dJB?$kQa?o-3#-#B@pv|h73~lQB&qKw3NYE8 zsX3;;VjM@)9LIBN8Am?4#yG22{wTqv+F84r-gVae%Fe)&W2??HUCMGzU30cv%d%8M z-#ol+jV#%w+d8nMV_?ZNRnKe;EP))i)xB?09nI|Jv5>j`9PuL`4nJ^o>*F=G1Vq|k zv4pb>uv~nbj?={he3OBZkxjA%`Z{KF@%R8FQ1XX2Bt`A=J=u>RW;$COiYov^^+dICucr z8p3TJD_@UsEX}Boixl31-nO_%;clSjVCUPK;dKg(9JY}t0C9Xi?(K-Wz(g&_wtG9n zE;m2Fbxp_hbax}%axu+;5O97aPh!YN8s!F^mmGsZr{dc*14|wcsQ6J&`FWa>^oB{v zs~^hSY&xxwwZ79X@tBIMXm>mY`Pp)fJ>oGNT-L~g<#>#v^3?vC@tAsVWb`dlZqr$e z;{&D`6*nrDxiVRb@CiCO(Z`Lpr$ReU`39SSJ>@;++bA836qpH&>yBgO3+O-j9c&Qs z=4=FvigbIUFblm2D6$A9i>G>C@So9-$~<>$(=jdGQAHz| z-)Vuy9Jv5lhQWrl7aVRh=04(k3g(*z_rP%!`i38)2uMurz~JF*lCNd}KU1lfm;M{@&uae(`gN{cXFjR)(5z= zGQ8yX0ikK-_~UV&Z5txbp)x+;J{-;huP5TwJ`4llljXjVJqxBgt4etEVhvMrPNJ;1 zpU0D&qg5Zo7FMq2*)3lI#5lY%7~|^PJ@E1sbInUa1Go@Y$RD6ALxRBQDAIaginMNQ ziX3II75$}1iCm$;;%!AlohgBML_}KREgf&)k2S4>*1q~6wrUZj0utdt zl}8#E(oPv=i+q+X=pDWK4(>ycVT-Xx{($=vXf_cisXO47zTP-oy)T{l-(S6)ksZNWQq42FL2 zEKKjP7IeeZ4{Jd+RY%_E>>UOCu+_s+f2^+$&(zA3tx$@NQM;!PLBeOt`Itn-VljL3 z`t`SO-_B&unRxRI4o0tU=h-*d-LJ(_=5zja`Witlud4ygy@4X%nLGRF&=cWQIr2?q z6OK=7A^UQ=kFAIg_|K_7KO>&e=Uj=2j#v4fL#fGG6e zbmL4v07IcShA)w8%JIvBeR@R%v*4rNW(>3Z_*xXR{Mts~vg>8IJ+Ktzp*6+*cZB?- zHlg9IwAHG#72BgsTd_}SX}fxSgSM;J4yNrskc#ry_9yNW11diD<3X}`7~hYVgDgjL zH0f*o*(l4w5?v(hd4c!9+K^UiF3ePPY}_WG#}CPiOA78F^hLLQY+9!0RraxKsGe1K z!MFVQ<~}Z7du9|yx2|89pA0d ztcu2pH7je?^0o1Y?9I?TiRAvmCm;N6q)BW;8y>y1QMgYR>*4bDtXt1?Zc19r_` z>62lGxl-k2DL6GxW^>?^DpUXg2xY#9?f-%%|B|ey^)D~}&r&sRwb%5QE*`CZ__9ZD zmU_SwdI@=OUidm|5iK-c>v#2`-w8BF^DCW3E`(>s_jr6i393v}*4pK#uXb3cX& zL72cP`aV(ql>zAmwjlqK5^?~n^1&C7q{AL&zDeV;atDN?HZZZkAdBaD!b^A$wtMAu-u>{2+VAXmd<~ z-2%umc#yOJqRwMPa6lXQR8JYh`YLyGGQ1aKpg4v9Gm78SV`mt4mux@`n`6jq)!8(j zqhFn0Oy}R?hg{5W9uELPqEu7=xCb zXEjCY(RM_T5XlRHpJBclWy>*2haPgFAPb0U3ig_ij?>*N1nV}$PGPD@xt-f1X+Z< zSEa4;@KWrl6*J@oH}p^?qF0ocgJl%aZaBo8>%--E!P4sL5K+n_7*WcUWS;(;3(~;Y zatbXARwCxOqnp(WI8`H$U*IeCg)~#QXhi{a^jt(1s-&kJ5p*Z|Ebi=Qz$MjV~RRy~TFSqCNqg zCMuqlwWGx#>yvJy9f69WumZReiOPP-y?_&{p=ypU4yCI{-)7mDn^7{ps}iMHlJfD9 z7LJa`x3}=i`hs>$QA4MgZ8aEd$1ogcI~v<^?B-+kRuk?x$GNLKSq`)Q`{jHLrtmBq zKMWso77>S?b+Fr4hW{D?p5++84VZ|x@49ZSl-y2!EH z9iC2yr_+U)SZMpm1Xcn%n zLmQq`e7a8?(rqr@eZ6G|)j>BKYspUAU41c7*E6`U#uBjmn%dWmV_tpfRCSgW(Ey%~38GqR zyq!w!{YkFAe4j~Db=%fBb4{y?d&|OWv8Pz4TZEu39Ln?fB8ooZ!NS%x-Gjz4a|PzM zQ5{WhQFu?~J1vfDxt`@&RCzCIeW_*3xJpB+Ez!0s5vgHld`;3YJ;Q`nx;LU3hH2nyQ$;9^Wm;r6MK|ny{Q%CZC|aC-ECj35!WqWt&`9#U#*kK?OrV;Fd4xOS6}tt z4DFDcuZ=gx)Qt;s($4O!Zj6bKYAmB~8Dl=WaXj1egbGJe z1<00C`aI?OqkmWi7HF>T-yD=uyxSJlbys&PTNF+vx>lD}y!`m)7A;;|UFv-G!?8DK zo2#3es$vaRyMimNxsPd@8dh?xYNSWv63hxWJ&-S+kS8q9^(s8!s*c$pTvm^7@sYpPH$RrAcqSqN;8w#{jcBi0ZQC{5qqRt?Y7jB?wRyXm^E!tw8*N&y|bzFqI9cl9W@ zx}&aIuIssWg$U>@Z-|&Z@*VY@F?$ExW#ATG6)n6rJ+~q%8t_m$P`4;L@z|x69Z%Q0 zmJtvGECaS~-me~er>el&cJ+Y`M3;`9q>3cONYDz>SaWdZ(6V7wYYRv`&0bBJm0BHz zkl3p+mlMXvn>fwcfjg(W==9y&Xt19Fs-K zNp=FwFqk9`P|*MPg)FoCsx5OEwm_D_6m)AZWZC+%H!{T^8CljThRvRqhA4IiWZ54E zwx#cf+tQB?+>)@Z9cZk>V(T{qDSV3D%}3JwZBb98nw}5!)D%yDTDX%qXdfW~Zi88| z6P>gZob(;Tk`SV7*JL`~4NKDds@beY4E$C#pB0wWG7B#XaQzXWNFZD$h!5UdlyAyZ zEagy4cwI=2ks@>rO2KPx-DKpu66q?tEB?BG2?3iXn6Uaxd4U9bsSJ||Z0f~4<|6iZ zaf#{ndKIwhDH>P}@J-m0hwJl8KhVXw8;dafyog5%V|4jinTzwo3FA#ZRLJlbURHYX z{wmOa1Y6H^4Co$SHWaQwK+@$*xsU_ET^K9Vj?+hVC#j^w3&0rP?18My9!%?wr{#h-dKJ zfa@lX4e!(3GF^Whw?L6;4gy#}J9)N+#kJoA!7f$T0;QzcmS^jv`ZP;#!t?AvUO9#X zqoX!#!`%-s#bk0;^w}HiWVxzK2qoRN)Fv!h%UsNk01YwKt;Yl?VP7is<>KK~?}krm z$h9n(Z$;H`Kg^A0d8T0!d9LyAzd?EwPDAIhd1Srd}(J0+%_%a=$oib1RSgweQTy~%djg+ zxLbt4P0e!~!%}tapP~D$+zH*>SrsWPceoaeHC)G2Z9{KP6s}{gwnJjE9ga?2L$MuC zWvwEynxh+LY5sWDe2ysWRn_&-Q$|?87S7=Fhn}K$tNISBTm(AzlAP%9XjiEnT_PL& z-my|U4|huh)vydt(<>3w&72sTQO&H;VWjj345BGmDIJQv=3r&XBguh5-L;KQvC6j0 zO+mjM+|t`sTivn@lGod#mL+lX`Re-9P2@-CO5lGC&aZpQ`}6DbcNdX={j2D)63vv< zFQ!P->M2_P?G^jx!Y)mggOxyPr>}W!gOw^xcAsG7`m#4N#VS}?#4cOJDd&lBrTt-| zlx=ffti0OzSn@kpUj1CS5D!sp?PHxSec&f|_sQMeJKWvf%6w~7LQhh^b;~KKBA9nn zZ~d4}H$t+Nx1Tl!Tb%NaX+U=l=7i`?=hun{xBWR5m4~r>ix}+ie}oDroLRoGC;TR z(%f>2#ZUiEU=oEw(>%|Cr=#T@OVgLsoB?`9BwIlxr#O25cDB-VIFiW%0dVOQ7AOHC zLf9MXhogboIbWWh@_w2}wniN$<59gubq!3+F*xEw54jQ~@n zn8H=J6Dhf_}KZAf1CbOq1y_1CoFuuIAaz z=Afa{f1^l0Q{E@kQ9i&dr!Z2~PjJE+V$R}ej!OVTAuR^;%3#%4`R2)@WcE; zS&pZO<^jG0i{Orn62W8G7Vu9DZO`Jd$Z#4fw?OTolFZWkakf~bs6Fcz<_@dR!vRA= znDTV-K!|gseX&G6<=ZG7jFfM2t|0UBTf!EZ#V7@YdXATvSvFT-;37qE4A$WTCOxGo z-F&=~jUl>;SBUawQu11IQ!*v+_jOL;)e10!taOPgy5|`cW*HzWz4(@nhqx<%Aw|CC zqL&G*H4p+P6D!f{NEsE`wZwx7SP%3JbcWxT5MDUVC8ydYQv_!yMjg`}fwRaWR#=2E zSyofPr$i#683WEL8^ikF<5NIWk;hitHku(<>zJ`M8;mm8r^ts3yktiAl6uOA zD7w*=7nY~0uEnXX;iF6Ok!8I+#1hgi)6$)$z&{?#+co5Yp0W*N3xI$!dDe;Hip+c> zQ49)>jjyA~;A&TUfh9DtIi@_#rhVuuWn-kF;|^VRh{1E?##-a#R_iqf|D2g-o@x6>{~Dd{ zs&l59Wv9ETdA4n+rFet*r0(8b>ESh}d+DVo4lrz;s!^FLs38HX&yY~8Y>EX?p%a?Y>$sAjCj$e?vO`uG7j4dguHQUm=UKKSB&1>|t z3~%v9V)4Q>&%YXutyzv%4Th~f^;J`C$K4h;;E|poB50>uvK~GS1}b?uwjE_G{FE%y z7l?*aUBYd>Ece)S8}noE_ChJFkpC&)Gp+dPco;6>`sx_-s<9I4lNGdxlGge7No` z;I(S-ipWzm)=WwG96OHZ57T?BM?4rMu(kuLA413YX_5gQ;j?jqZJ~QXG$87pKob~s z7^ZMATE=5h1%_J3$zypUJSI;E8IWbLKqnMmro@vsx>3H;#g{ze0vNRn#)ZQCntrg0 zK`cuANd8@`dc$?1V(d7tkf6TIo>#}(B^0*EL$S&xEUByqd z6l;Y-G+fO*9`eD_4T8IOxTU?9N@pBIgG%k~06-X)%1LXs10YJ)-{&j;^77&)I=}9} zho6+2Uq8OP2F1A>`GC{vq5bvtO1b!W!`5FX$!hxAG#be{+!r{Q}F2&d^!c6PQj=BjLcQcsDmw7ideNl zjx?B2O;#7rv(w|&=Ht(c4BBG2>;VyKXy<9cLekIOYQ@`X<)^?3HQ0#)B*a_~4|ZRA>}>1|0Pu@&G8c5Wvl z*Mk0R{ZDP_lJ@zb*`Xa|Qy?_e)#iG%D`vwMGI^Yiq z1UPz*o#q($Q;56}<nB@3W_HVO;f<>wf3kHr8&B(i^OBLjntsO1U2@_p@Jl?r|q8ERBXp)hpFM%w)z?W z)OI$wz3h|CWuN3ieilF2)NJpu>Oa|>%Ei(R&9N=xv-rVm?6oe@3c|?h%CcR5Rt>|@ zF%!k~3|8T@tJP3xXXcC)WyJJAcC_^hT%sW<$yUzmnDFDNhP{=)JC1p^k_tj!Sk4|g z1#Nr2l4dUX=TXOV3FLMy-i?I>EShCQR$`UNCZ+E z*nY)5!WL+)twhzTL}igvCMwIGTA~&YZxFS3=~?oClt#8URi7B&c>Yr#eb34;n_xm* zw87wS-17$&OCb~H5R7A|4XLY!saH0n=V)FX#X`o|!I|Cy(KfiS}ON0M5!XH609&^}Io>G*zDIF=4%c9~y zPx*P8lHOT7$e=Gftl*(hHcu+EukWpmQespYVz*%;~?=#i%4*IyDnylNn;s+SJeK98S{=#EqDnEL<-DK}N$G z{(e~aDxoz)h$TYfax7IqcW=atwJz*m3NG99VXKDc>~cgKGhIJ3x;diD-XEjU`(vzm ze+&aGdDSdAqQxh5j_A_EYu=yIOPg0(dw=xn+xPJp&X-x94iV*in=InP^hS93_8_Qfhc}kDcn8P}aU^R!Z!x8p;b<@B2rT?~bN!4ur+cM3H+r6*ezBXN_;`yn$x2pr=ndTlB zcVU>y#V-w`T(>3-_26r=VtT799dA22I&r{e=a=f%h%bI#{L+00&8?XYlx+44axuN5 zP3EogLXfyQ&vut)Bhl<3iVBvji7qWUtPXPC^;R{i%RZ@j1hC5TcM4i}a}WT^;#;Q7 z3XdsWae${5DHv!9P$kRp-Zb9onaB6Zs)093_(4GTd%N;*zn;_(DcX1wo`;${06IQ@R{01fnC z!oNyS)7|P9=vV-I@^w61ju$vW8g-@RnlaucFc$plE`wnpl{8(Mz$tl@pD9;(-x=?E z!_g+aOLF10r@PZYB4{OE;%N@Py`N{_=t>eO z({#Z1fGB|g7+7EdkbhvX%*N@zsgoa(dT1cyH?U^7juT*nX@-_FjvV&P^gg4)i1{pA zpQGabnkYD` zIrKV(#y}f`^vf5?1gme#0|2GI&2a_tS&X%S=`uXbX&%qgA>O{3vk~y40!%&~PT{v6 z^c>&Gp9Zk@x0F!<51K=GzgJxJ>H#4WLeC6Sy!j2QnkM2#RyL=EAaEGx1;P8^t7%`t zTET>n-(tM(jw}ot1rzj+=1HQEBTzEP1znfFrQupJ-m38&6ymqwUWUI={csmb9jf1 zjtF$oZk9g`MxeHk?_^zA+Q2|G!7{Xi2HAYd$quq5g8)a#ECyzSlO!DI6F3VzP=Bv8 z%)UGyrf|y7(B<&(BT-8TA!ukh$Hc`oc^%4gnI_9Qo)Ag=(a3w1@AEHUFcJH&G9l-v ze$!IYgBQFHkxjll%tnPIi@(OATXmyDq%9o1bxJfN4dI05L}2Ut=2FV*)gR06GR-MR3VL1;-6I~XNu5Kwd}WIsRumk zX91}-%H|7&4l$_CZh>^) z6wQLRQI4Wyz`W+Dnvmz1RRc!muD%U`r)w5%h1nY^3rl-XN5sJXR5CO^5bxqzMBA}Uj@IdxT z*TP$_8apBa0^@uodqjZBW!2KG%n<;psJz7jSPGuG=1-YquknZD5}*wN#Qd>?&dhRSKn#KnIA1um(~8#gz@I?k&#)w`*;ePQKll zQx8tLL*A(bajiExE!GO+tvm{^(vAlNkTpZ)rfxx%t{ufm$OD>`z1-|(#7B{d@{`!&@%!!R0Ie^ z<5RuD)Svco$6eF;;0){+8whF~cgzfctO(=DG)Un`cqTL)2=)xmclA)&F4dNKHvPM+M)Vrb@^O&?}`P>4aoO zlHd}CUZ6a@qAM5>Ri%mo{g{31cLOs0?nD2E*h3NQCf$-$L*H5NBmW6>9B;+`X)i%1 z_Cg@Fn0)JwVTXd13hY&XGyIi?%VORmnjY-H#ztodC-7)5XJmS=vC9{h3<~o0X9=AfZ zhf8w25+FOXw4Yg{{g#7;|jJNa5K~S`Z@iQsmYfN|WJyGZM zr7!l2GiA%M1Jn?$%kUWHQxX;gtEPJ+{Al>~56}>PU&1q6c(8Xh_O8*nqUc*Pe3NyM zsAPCNPYdTc*gkyIgz$%&Fcxe;9A;V~f%|RV#8n`;6e~)oDVAiN@JW5JSBcA{o|9cR zfX1`XWfwe-;JiFS!y8bHa)ho3Pb_?zw3Wg8^d-Bv3zTAwcP;bK3CuG`~OuYF^5 z&OSTnBw$`ck_uDO6?Vu?GmXd^UgZdy6~Bo8Sn#%e5hd=C67LY_nE!S=QZ4{O0}@9ubORywP#GZO|l(^kp z)%eWLbjeT&TvU>Q?$>9?CMH5ZfvNrC1*pa1(hVG!*v9+u!WO;sfIIv##pt51Qxup* zH4fl#z$AnO8s2OnP-AXtsJBGk2=9^N9O%4>*rl{m8s3R|tHRR)ZFCg%RfvON`n4?a z6P|xE3mR~ zOx+PhFhpSjXK)kwXDqzVb*_Ob)mgjt6ATc)&3Xc>e9L{M%wx1{%x0mKwEsfd3n6cy zYjnKuB8}@U`&H4*yVzyrLImn^!|KOB<}h0{d7{MnbzH2Zx*;jLZ0JtV>oi@ex=eQ?v2k+iiB9>bt{q! zWbMp|u~NA}T+%en+=M?qRl-uS43U_UM!`4hDo_3l;sw)5ro zuHJwD1;pF-b-mxbs<2P({(IJGUth7?F1xv9cir31?N0rgbw2hQ*G=}RS^sd;>}9Hi zC?wE=DPDLTs$D)Lq^%Om;xHS5Zi!6AQ<;E*f@o5Wgnh%IFdNf|>@#*iElLsABelmR1U zz(^S|a@v5AEc{&T;U2qU>g%+b`Mz$PL|Q1LR!$wYQiiCMAu8Wph)Nlc@;8b{DT7b` z-oYnX1eD!I@mH+cozY%=L0X zhLT<#ZE+V3Q|_Wc=q|##NOsI!w2ItC+wSu2G6{y6J0CGH^V67{=7!vL($XDN;tqr@ z1wTYdDtH05JMu5-2}krt*->ID=Bmm$YJ=)YIh*@cVTm2h*=;tbOWvH^pw~C(hI|uj z*qhL~c_CZL)Z8sK6w%y^#wjK51^ZOL{?P1JKh?XJAG-!BX1&*}Fp(wOqyT`7wefc6xMV)leS5y`MelpX!6R04-hfZ`>}l*)KiTeJ z?M_(FuLKEO^0Zn6iNo3CxgA#wG|_LirNTK_Xt-^<$L8?+s~cwZW#ZnPZ>{Hq#gC|H zRt0Mv`6bTcMYXWI8Cp>7CsA{bY#ukg!0+QM;-$1ap$Y>jT+hhEAk+>~$q>GVeg{Fg zoWWp*j;aL~GD2teaJ+m3tvaAbdM;Y>VbW z(L_IB0Sj)~L#nbxrJ?W)Dn5!n94!c2;s*Gm!dkzM122XP-=BMa8N6f_JP^7?^~I

BReX(tP(?2;??Eg zMhT56Uej*57_aA4hYq_P!O1=5EuK4)Ep8+S zSmKkwl3$ac4oq^e_G0zRjP)7~G9bb!QI!}ecZDq@p^a@;*aB6P8waowG}GMw1=F(j zmf+gW0tEhnYG|iLQ&9g*G=)D=FQ^=bW00sWdv-Vml*T?@*SqZMORwL(y?g(qDt>BR ze`(ZjL|7&}Yuw(nnm6r!{aS#l2+0kX3vwL%|F%=VZZ~@v^!DYh8P4`JXb#_Kjs?LW zq?BFwhXaEsF(66|h!O+h2MK5_F(Asg$1?7*#DFM+9LpfbGRX1A4{|IqAj(L~5(A

VXb*^@hv`rl)a%lcN%J!hz;;!E&~sO*Yf;0 z9X|TuDMD68mNtW)8K_yL`k+_(D-Ph>RQ$mDA}mJMRbAJ$lcs5KRT1&Zu~)j2!4yr? zz^#N`tX|#;W&rznD1Bmo>Os1zeR&4l{9Tq`E74#MLoFN%J6eGJg*NBq%5jS%9^hsc zNj%`@uGo8S)&yRE5KOP5?FE$7N*H>NpU8%xRW>87~lI@r5( zE535gloV6bm1yPgiHhIcvhvuMQ!9@(O09e&;{YC{nR7=@lW?GNeNRL`*ECH{$Ulb@ z4s=V|op7+NdlJ+4zs8D|S=R{bctnHVa{= z2;LJC@qZ4X#OrBJ2XihPpFkOUfQ$x9wGvPM7CZRSpEkDVi?${QkhW7^S@T zPcV?h&ku*QZClCyZsHMVR#noflAJl>jFz-1;vSAT69egG#98i$vrzBN9&wgO0{Cl2 zoRtdk@d|M^o9iy}{)#r&BUIvT2G(r=i$HY0itx9yrUt6$NhSSnU`^d%Ij6RP8oFtv zY@kXdiwP76D6dM!PS%5=(AFtUpyC4&AOKnttdpVdXm-5u6B#6O&>z6~xn7W?af8gm zYX=%Td^`<(PjZx_taTPwj4h(fp9rcVX^K|U&h9!r88bReka=|J9{;CVFu*@=OkFoI zr6Usz%EDPxq5rA4>N^HIFw8z1pRttjJFjHqgH7TTF*S2A0s}phb9+U65fj#etZMRp zE<{fC(OMcFND=FwvC9G`88xmZOkkEFS+X$N`DQ%0hZ5p}Zy3PBuWnfWf+nwP_}jZ` zC28{HvZ-6~Rja0k(JrFo>4f8Q+EiecC(I-;y#Y`(}Ku5p@Pp~FASQC%dq?xc*MSZO`{rf1~ z8~CXATmAl>fVzQyT=>MmuOTleWNfx{Q#A^K-Q*P$#IPvMyoMS2`egxJ+4Hd@b|+OM z7*Z^yS|$Lci1_VB6nPJt!w6Jb_vH;}Yt=hv_5vq3_1<7=4BS(A@^2d0#C`L#Y`(v_ zYczhAtqVmlcp}SqM>eu%DxuO_6#F5$7hAy{C;$^R5R7_tr`{92n_;*VMtX(I&Klju zxqw=r4?>gzc#{rcLagT%<^cD@tFW~@UEl*GpaT%hrm(ZI zUn#lnY>g-Yvllj*O`QR%9?;V{bo7LO^u_~whyl0E9^o^!Jp>vEJ{y8KKlMMwi9Vqj z$FVWz;}JiFZb0p!wT37HlzviU;=E}6B1X~AU=sEhToi2aa!iB+;|wXu$@84yl!EIh zpG_p5z>W#4j=ygLT7pspC}|)J@`QIz$OBt}2T})jHm*%-xJ58^*eVYe>MwHy!jTgq zUW7YvUSscJ)4!rgi4wekR8Sl&xv|y{pe|CH5CtpGVU=(Qt8o+yP8R{zKY}i1&eG2@ z^v2=gPrcZ+IlO}0;0B!U_B90QQ1dZH4S*b;xbuNY>S4VY2CTC%BpTPXq$rgaQjK$| zPfEkTvnw5<3oEh>DquBYG zMv?c2?F*eh{8#Aw;lD!XFUv-u^OH5L(D@mbS!n;EeG&eF?F;R{smX=bZx-V}vT5<6 z?F-!>(<(-PEr}PQKZ+z3;{OU7ItsNfB!6idR}1k^Y+vO5L3_Q(`@{A{-XFFva(^|M z7kdBLzS#J(TIBs`G9o$`Xm4tT6}`y&!}dkaPq!?t z7i+H-*?$8Q+6uI{I5&#iAB)Snass$POUeN^$Wuitj)fas&WFjV7^x$k6;25PqIcXtRcC|P-M4LR39^3YSjiHC3v>%B&|M}zTPgK4^?>av+{u$x}1 zL1U@802_T*O>(Sm!c3o9RHM@(d`ABwhB0~~d3!v9OGv1hsb-z}#ZBY=T~jnB5Bb`i z;h!E?tL58^i|6O(+G6;)98YSFJGmG+!!;S-FNW^$0@2Y_P5)Vz-oZA&|GdZXc;&$l zXPsUf{%0>n@NfHl1O8o!*Kl52jvkVeJhX|u)-6p>O-;}9=jTlvnq1&;s0JNggdKVp z0&WE+PI^Mt)xd&Qoi3`OsTJA_L)=fX=Xf8u8G6oeIu@~5t(V1k=mW3bF6bwC z;xO5B)(Bi5cfr!aoBx*ef|-ytSlIGn$b*r+i9-5qe%u5wS4!q)9b(U_c+g3 zs%j~Q%yU1$+XG{zsfq$TTD9bS<234bz4)8Rx_>GN6q=TQO&85xM=VUsw}}b|`kj-o zgbzO7foTTk+%mEgmX6~-`4NyuEKSiA&C+u&?P`soAH7EFn8VZI=+K&&Z!cTNtWA|n zEcTv#D-j{t9olT-I_u>zi&H?>NvAPp;tKgz=6l`K(!|wmJIN8H8eClSVltiA&~0Di zmUP72^jve(71PqB)E*q*ayN}OySw_e!hFGuTo{o<@faeD(~!Az+%zu9)kLnaI1dri z$cOAq^U%!W=HWZ$!d+=N>xGB!W0G?YK*G`t=a9%3GJ#xIQ{lQHn~IgbnrVJv$Z$#0 zw{`mYcH-i?Du zG7on;xc9+ZY_;B=<)khi3W1g=iK!&2TAV0&{qJvP4p(szDKWO%3Md*&BIoRL&Y79- z8;rcrOAYjeJM2E$Q;!OVdfO~X-_0H7IrQBMUjIcg2KF&@T}Q`YP5^E#8|xE^;Pny; znWAo>yyA4)g`+A62DB2@P+Noaf$O@iQx2?rs84P*M{Nb_(;Rb*7YGB5mM}7E$8C$AshR{JKiXY{lP3?MoJdKwb&m?!h)m_&6PR+ zA@)Z__;B!D0RRvM0lX6Wr(nEyD()vea>)x?=B%SLVTQzVcssCQ?fMx$7PdgKOOY5S zB!rpT6B{om&$eI>z3WAQAA!k&$dLet>w^|JuM<}U1%lA=u`DE#H|;`wux`$;+}`@G z+aKCpq?2kuy$=WOY}!+#?GM8cb^Y?^TVg5(>?ss?>%>)2lGQd5JnrCg5EjBO6_%DTVXR)jN308Nn*ehmF4gy)D_0&=v#6aE~7|6(QNX@0Cct8C_Z z_AH@%f~aH9-nb(WB&M0FF0ayhWooJjy)3@6S#&XGAkwvla&U5b#n=g+gqfsCZTO!K z1qcU|#@*CaB&kjRV5*sm;TZmY=LH*Mx(084PPz_B_1IpNhIwR~OjlLSIJ!8!xHx^l z|407h|6iwQ*QaB~=rl<-C?hiy6|K!gl|k*}Cgei0B*`$1hRg+-C`j2%kXI?4S4vV% z?9$C-`D3&)Hfe$=c;4ywl6*KyDD488s2irzU`KsuqG&RZhySdVICm$)5W`X90waUn zZ}8#P<+k^SfkN@%hwS%o+3;VJjY1`1#%vF6lU}AlWoimDnb`LJP_xR^Q_4)2A9T4~ zpvyg|b^74l(L~Tprs>e*w3cL5Y|}q1SWBCT)m50Ep-jeQN?XbFs;c>76^Zd>zm-@G zR)T1RG83vKF7w(Q+Qi6yioxF;eHRnyj0r#AjzKUJ){2(TrhPk}liMY{fV9YL!B!$d z!^(SM(D{q_w_UGvnmXLwN@wZaovm@EQvNNUC{OtV?g5-CZ!=~ }6>D81ty_&!G z)&iKN_e~s4nRs{wXc>7a0j<<(6{Aey*NJBpZa;T=@rs3qd2XKYo_NDg5IzCY>W}=O zQ2@W1+p|WzXK|+y)o9PsH)#mg$is=A4PM&1XV(K()4DdO*>+u9>`sffJi27ijl{p! zZbEd1M^&Ep%0Gx>hE+@~bg~WXn;(IkxCzLf3-bVZ5ErJfG6sL&ZCA3X)S09>sW{U~p zDg)}PklHi!fX(nh52#IUD^6@Rb}=hr*9kI};J9_+N05x`Zx*Cj^j3CbwO(DP*F#Vw zC17|PV+wui(`P~5DPbEI8#p@PYoDsbOYHUpr?x&^W`@r1m|MmF$g|d^+sZu1uGa=H zzdAuqu`WDUm0zKTH%99z6>n6gQ`CE8shhA;(%q(kJ+YSSHuVjXoN>`KG+B|#_)Rz0 z6y!#Yt*_b|Cn{7=)%iw|??nYQ()xTP$r79t6JAqXqG#W-oSt5{$pxLBlB(z;-!4lM z9u~9)*P>2O2^C=ppXbneauIS3pI*oDS>6E6Z$%j<=xl%Jjf<>&++d4b!IAWWkwi%# zZ;1K0B3bQVnGQft&4h#g*c~08z55_E$91|i3Nd;JNw7u^(l~aUE>TrjM6iV3RBP^K zZTcWwdd$SM#{H84XbsY@Jhc_(=DnQl{JY=U{xPi+E4n@5MYq2|(QPbx zC)}7j?nNl%ASmO^%(Q>Ltot&&k!28aY;?~2;f_$$PIs{}td#ap*Twh-RG9Wqu1ndB zyL;Nhe@NiND(#`9y;zbG9w#BGticYhTbC4hXX;WLF7qIoewCOklj$1n_b?|-sZD<{ z#Qjvjf=FeTD>cuaD@`QWmO)d#TJn>{ycO~yZk6){#$y}fmy~4z5~T)*4f$3bMOQ>w z)FQ?&1$3He$Z3f`A`h>afFdu2CZPAPVEoE$Ig7VkLnyNvYdI5TEzNQqc{tf}|D~0d zCyZZ)$cS_P6>^>^vX*E1GG(zO`=O5Ml=ke0d-lUU`{B0ihs;pwa6k`oPLt`(<2_XH zfy?XLN5<(8an|tU@3=*5NrtFzWvJfz@ZfPH!jb1S%*%Uj#636So*Qw`jkxDVjK06; zM%;5FZu9=08*$H#xaIqMZp7{0-*Y2w_x_$6ajWjy@EXaeVradOY*bKUQbdZ@^?ZygU1NGBZQ(YVg1 z5}mlx4l~Cidy0Xrxax*B_qIaA>EsejKUxo*vSKEDv_{TwDO|!m#f6Is)J$mMnXg6* zckIvIgX7t9G(op9h6Ly?; zQ8&aD2-2Q+@y$`;fb$Z(i>E})6NX8JEtuM~#n6kj6D*7>nIMgiAMI2hDRpLJgF;G2K;)Y@PF9$vHqv7|=i5o+e3{{deCB9Ly$VQb7Rg&tWQkUe6 zjmks~Dpd+q+Kf5TgNPReFG0N##aT6Y$=4gWoy-SN3ujI{@%duvPHe7(DuhA8FXP1s zj_>U`9r1Bct5I2=!Z{|A86I@E!r{jLq?2#@>n-Y>D?H&f&tl8#;o?qIFve#SfRrZb z=-*1r;&h$JnUx7{o&_0t{6jLz@jpeeCXZeP6Ic^TZZN_H`tT8^DooXMlcPikHv(Tt zk`7n!S`uv%eS8IO5`8TJFwq$!2+j`xn7kmTP{+0UK1AH(68hY1Hn+i3eKfW~Q{|2` zTN!7#6Ts;}_oBp*+VbNJfp(g~HC<)Q}vN%2{(ie@U6QuOhZS?<5KmQu*j zOu2fFt|G81iK($@l{l$}^V^P7j)s8ZPB$RL+iXofisCO-PE%awLIm^!oh$eM-oquj8i zOtq3CF3+#G@wL}Ss z1oZYk;b~~wWK)_<9r$7HhRHa-x(j$~U|Z1f`)969@7jWQN$333!s-1r4E@0+pE|PRE8yg*^>dqlr77TVnz?eL?dlHnD5l zllo{e>wu09D&@?m{E<5gczHNk50!TGd6g7N-R3Ia3fl|LO`$xN(rH zZ0Pjt4e z!*0A|prL4&%Iuh+)JPA718mnhV$Q{b9CkakCmd?)33_B?4MTARZu6%dU$O!%#+5al z*AX~(2z(dq0c>&50a#DaEcTf9YN4LM!E$@}4t7X5T#NDC849?l36zI(oEEG#UPcxz zml|KJ$&tgFKjEUB+To%^I5ND`9k_0nPn)g_x9|>`y+J#U$w!>V9ALaqxOJ^tq2O%+tL?7}6;(LjgJdoJED~V?KjM96+Z+RXDuU zw@`p|a=(piv`avNvt-Y{gL!~;U-Z$FL{7L_Y-!*d&@5U`BkN1JhFt9NXKUv0mDsVn zcmG5lITOlRI|?;7svN!f|J2qd5g$O z+D`7V-QLMJBHqwtX{&nx#ZhWL7^g@aC2vjSbg*e0Wm;|EDyyi*O3c&)(gqJbXWrpC z8v9^|*Pjq9y5bdIOkFyo+lXuBuG%uOHE>Up#FFX%KK*=odUorF*OYM#dneJTW4Lu0 zK6Zv6g*YEa!gEX}TR9erdpn)Lvb5*nQ>J0)IgGZs=RJBvGEF(d7wsE%YuUc&h-H}j zdQG_c$x2~obnFsI&gG(axY|0ev#yz@q14v8odZK#JM65Ozxk$lc`uy6>ComgEWTcA z$Tdqg1|DvCYK@+z4l)QvM_Lu@*ifSCZ6sZ$>dBb?B4YwFoR~X?ve=Fs$-2o>_ zjfSAh*Ek-HD)RKgE!e>$7r)}alFMYRH)L~XM?rr^x?|#ny~f<;pG(7Y1{;sh!s8L{ zFrK)R{?-I!r1dmwF577TrKvxF3*D3J$M(Ic${)^DLzI7jKU`vU(Wpy$mHu!f zKK7d@BzCkyuJDSz+41RuPwO{T*F_~3tF!Pgo*{aYdG&VHd(a}`%CWsGE_;I2_QnP=-#61wgP$)-AJ z1#<`v#g4bJ)Pu~kP{I#(MMKvrnyN*TyWm&4%(OIW&*i#Ut05M23rv zDFc6?GV|(3s`)jX&yRK3tA4k;!f-j73|urvIz8X~?ema%S>d@7i1`cC#y7*ZguuWY z&a-qEWApm@)6H$@%oWsP{z5}iwsq&O7F`n_>sQU2pU=;PyZhUV`}0<-`S~1O&L_ip#@c=Pf6^r3nCsU<)k-`;#Wy*j^bHDM2Ioqs;RKZk!mwNB6P9-1f3 ztLDS6!o%&0)$J-}HU(sV47-v~yRtzIDRSTYa^L$x-?Kx|`=yg0-7VmhIdmh;nx$Sp zKlu!IBRn7C>D2Q>&K9$d4d+{=fF~a*0oK2dLF|J4;l`yaxsj+-&h13Me_ayt;fxp(|YNLG|46qBFGd z*M@Mmob|2I$m$Q>rv=`>M~>AH()Ng;D@WGQ>0|r7@`&*jy9_&vB0;!=I}xn|H4zT@ zZxQ}la%p1|YeF}rGCb4Rb_$qEgXP3cK0*Y+HV!QL`KiXP{{&8I%DaRmV4P8M%(!zrEajw* zH4J~|nKmxnZXel?ar)N0ai#c)vD-ytFCQCWVj&4ICT>Pox;uRK!*_h>WN8v!xO@C4 zH@I$!+l9lD8(cL?&e7ADz(+Lw9x}eR3NBPXg z6^PCVocA~OVoIz$HQ{nGMwmMW{y>kxk;BN;#RyO8iO==2Eu#T;Fo4f9e+uiLz0PqqDLr{BqtR-w{vjx}-da z7)|O~YlYc-y6DUo(v4tB0&&@c4?H_|0?I5)VZVcW+ z;VC)raemxFw<$IQ3F7(A<$LaYN_8*HaW-8{C;)bV5rsq4_%rA!p<^wAbh4D!LPGlf z39-my?%9qz?m5#DuX^BztKXg8*M$2A{x2~DdAvDU-<3Mk?q zW7yl+TfB3|{_?oxVwbdPvl(iVhUB|3H6KlP$^n^UR>r!VW-$Gcw!O@*;5b zIure^vO*6khUy~M1ilfAf%#?N%>R*oRpbsg6eT(R(lwPg-28SthbiE1KAU=4k@0}Z zvMB0CLpr#*f4pHxjw8#O@}9{|Q7-=DYXg`zt~XOBT_>UeDY@Q}Dk{(xQ$IRAdRV7N zYsgaqO@R%~?zQYcGU{aLM8qIVsvN0Il%%PIFjK2gm|=Lrj4Fi5o-os>K$udYFjM8i zWL8BpePOb`y)fOI8nPl*P&27QVWu|#vMN;|%$pjr#wzGD!xyGh&}UjT!qETR&?>1G zlT|oJQO0OlG4h24fgW6%?^O;ZUbI1=0bPb?JJnDn*<2?oH)ez@Nf5==q;dM6hqO&Z zHVTzc3o^ZDl||JSHQj{6WmZ{wN?GZ0gOO75N9x)g+GJ!qMWZAS^oU9F;{PJMR^rUp z@|mt~$8)j~ga^PD@y{_$iowsr3E>&%*35?AcD2gcify;6oT^uLy2|Mqf48fgdP>;s zDyN=BcDu@{hm_r}a_UaJ+f`0I*zb0gQ&0RmUFGz{<8D_u_3*sgRZhJl?RJ$@ufn@p z<*XY5H@2WZ*&4Qqa-hvImF)m6|0Zfi5*vsvMH^G#4rTBSXHd3h!rj#UVt2TiI3f+7 zd*D8!3^p}s!nB55j!!Kb+$?!Up+tBu-5JO#=Edv!mxo#q-5dF4HMlqRr`4B|v{JQ- z!<*q(%>PXOspn2FUVLc3^@ff=@rI&uEkB}X<;RBtA=9~i%Hn;>FGtmzSIyESN(@rhsd8mx@a+{Ln# zGE*WCug;Y4rPpP+E3-zJqH2m1ZMmeHnx4k)7kN0*^5CVl>~;)VNqzM4paN6Yb3g?e z<}0Ieih~M#X0+78KaE3<6+aY6xUuJ7-RbW&;ieg(P|zgHR=QoSZt9j*SD0!&NLgl()q&5P7AwpkWinIzWtl-TVhFNBxK7>C#N!f-@Nv;p z_pgi;Xq7Hl_=<7hUc8rMcN@a(V(JH7y`6>e>NVl(z!}<6@;QtNrYM3QdQ7@5OvIUO zkFZ0ZkRPp&>|#AxfB$un2rCD{)5NS}4Djr{NFMBNVRPu6^5U zjt5BUWvyP#O-y>xN;5H{ zVE&)Ib8Bwf*7o>U;q)n;Bip!=fFC-eDv6ylPT~_gJ$>nTXp5F~N{cEbCGp;~zx!DL zFCs-sBq+pETFva)nOY3&t*SZMP4|Wph8t z2K{9|<~QSd_4eCafw+x>GEe?fwJcQO-DmSWz z^@4@`ppkuAB5E!7TTr_ddLRud4^_!qL z7-Zi}dNM(-<>q=5-bY`Z$1wPoh*GB7u`?_k28EKsvs+6xFXz>Vcb7l+oX@X6SaWF!1|Naal}~)z>9^qns^4lG+tE{>lX!^#US2OtCu^Tq{)}HZw&S5HxiICZ+!5)qtzlHhz| z>~`0RIpLC>(pNXvpWeLImq<)fNZNTdJG}{F?DEI?&rSL*%ug{or-D)`5I^sq_xnwA zb*9GHP#}^Qq=S+p`=~sPuKEom;Cr-wLt@F@rj)kIH@FU-30d&yOB9Y~{lP0{Aa2HDEy$U0Q73eprF zUIS?gFYN>1D-^5~Yc}Y&pp&-Nsw`Kk9w=_HQj?)mTdDcOl}gQD+6%!~C|T!PePM)e z4)e`&@tntcd-K~Ru5&1`lRp8ywCzIp8I4cERgjv}_~ag8b>4Fe4_C)$_R@Ym2b&Bc z&N$+@G>DjF8@@b$xH^ckmzul=W5lT3kK17EVsD!#DHlm14MW(%hC+Mzug`y-!{eM& zNl>zJ*#P2!J?ZTL;u#r-ZD2f?3r`9nMTy2!M(;joym!<4C{DJ_3b7kzPSpOhgV!`7 znMdSWoQ9@=Sy#&Zh@D{J_~B`nC|!tplCDMR`V=Hw&2V*el4p3+A6&lvFvvo583hD$ zC6jC6$gb06$hm)N?DF%)$Fu9p zi?=JRq;<{=#t&v|IcG69O4;?p+1Nk9&RfMU==#>#F|+KbWUfGFUFXBEH@BZYboe;x za-u0^qiX&9;SJ>2;p38wBacyXq3J-hy&w`Vu+ z-@fnCZ4e>(6xX&LZ~mOb3n*P-4lt}>7fa%C^N%(kk`%)iVuISwH>zHBK5~=O$F(?r zFr$@M*J_+U$zhtLWhj?>(%VMm7F;dWP`QQEycBeFk4a+wMs z)oX-uec`&4F^#g8P}}~~ef;dCWcj@Kvk6yAkU|-eY|qtVA$aw0tC6d1dCJ-=aNup)s`M-5(6AUGs+6;%s*tcv|flNpaG9p%5okS&-K=ygv$M>j&&bTz8Fvfm?O&<(4SHkK5^px z5P)%O!n!hMn=ri${CMF!Eo1m!>vB*qp)6O-4b+E1lO|6_3>ShyZJC>Z@u}%wwfdN# zEw&MX>p-E0Dss601?H(I6K=w_3?&^JX9vH=iy(xxVs26|6k9IH>tLqv7U(Tgjb^8j zmRpyI6Jfdg{<;kBm6}Ig@|)mL*mm!Y<_QL=f>}fheFCjT76z@wEzdD;{Rb6O$DcpL zZfX%5%)5vZ+w~Lrqlx(ffGM{;w6CJCCmNqKY#i6J=mN%cG@tpyiHaRD1GC#`89>Z( zwOoLuA4kDF3ACY=S&!lJn+dLJ8+IP}kHLw*JP8#&I|s|kWSLC5&3<69I`H6S@vGH6 zl?DE4!-x~77uizrPTsJh-xWs%9mjO0$KBwouHBi&NLj0k+nbrO81 zf{1*b>6A*^`|@tr%?GnfMB2uj@0Lp9z|KXT+gPXKHl)&q*rQZJcno)GnRN@!IgCb}i0LT;%Mm8K$hDvp;I zr%HUbN{Fl3clA+j=Z2?DibBJS-4bG1LIibgc%2a6lF%U`vGuF6q2tb%EpN@refZ@q z+fIjH-m*b*_~k9zgNI(;b&LF<%Ufg79e#P;AFRA(yZeC4Tix><$zIs6D|4f1LrB3f?UkkttQ0x*(?WNyPN!m!A z2odEN8|z9ZCa@NQwO2Y}52crpb=g;yPRwPLxwM$cn$k(Bv37AeZg8K|TIl3K$;(0~ zqz_$>LZ_q9=_qtM3Z0HZr=!s6V1!QasZF>|Df~d21#@Se6QSBPYS1|`2CKg|4h}=+ z#FD}sWlnpLIprjlddyhnl=h^f$|?EC!y?goHO}jM%|a)^T_MCjSm<<^-gR?V`hM)p zgIQ80)fWs3`Grp?p~r#h4~pz%G+vVixK zF0wFWT{QP@s@6y)Y`Kqy&(7CiG8!B7A7))Iaafu{Rhm#m!twu{g1KVSW2_5F{7HKc z%uo{)+s*&KRdfo~DzJ`4_Y>vO)}%UY>lwlHSUT`uBNM?K5w=w|*TLL@iDhaOJHWHO z68suR{_x~pkK++6ekO88YFR3mHcV{PF4D6tk5e_Gu0c%1MMQj$c5$Y`!=EM+J-sux zSc&~JLI3KEzV+WGHRf8Ecevg@#Nu8*ukjyXyN3+B#;cE((?40 z*i8>nxO@u2&?sC2vOIRK(~utvV{xf%vH0u6cmq@Et4^hTQC!b*QEt_Z?H5@4VC91? z=soP^O+rQ?LM_iN2PW12-^ozLvV%$HN$n=Vf_qk{A6ZfT4B{P!86@DSdTuJz(nY12dQQ zf4NYXAN~1^32_lVH_AT=)$&gjrj=q3o!_1hnr5^XN;+MzRgt=?-!NfPBeuQklT|he!+8hBc@$^t;bWW>^|>^mp;Oh2+Jkm}JB#5@ z>c%F5@#;X<|EErhdpcNdo}7Aakldzhpmu-%i@2wxJGJ|JIu}(SG2O%U1f5Y|Sy%6^ zAhE)qDv((1Z?7;HD-4dKI_vDhwZ}Vs%3K*G}mw#B8+Hh7&6S6sP8SS$E(9Ie{H{{s^M7S$Sr+6 z;Y3#V#gdA0#nF<8?uyW=va3g)%h?)1p1mNGqZsz*-s$f+JV)gz~BpHr1?)2U&J zQ*E_i?hL9*)CN=)u8RmOqo%qw_C%_}Y+4g-@<^)c*E*7_8%~t}=(RdhR*!XY&ab=G z5nDaPGxc64@BGpug8hS`)&6oZnWxjRzO7al#Si02I2=dN4b}0eiDy|4TSli|D}Gi1 zOK~)xJ5P}kEEfn{6Fx;+X6>?~JwnIdp=1~d+vH3iX3eRdO@_gv8jH!zwlc)Ns2KBE zTeq)050;z1H7R&79=H$2o4o?U{Ap(%3=!Mo?NEG^9~e`k4x6GOjO}NGj!O{|Y>$LU z%{AZ45+d2r_>TjKfT>d6L;S4(5d#n4BrEVsKp_Kv`JfabFA-nrN1;NHbY*or`+`)6 z%dvOLU)@{{u-hl+KVk=tFg{r(rGF9UmIU9Xp4vljlce#=_>)A~#M06hxX9{}f(4Y5LC*Tz@Q3Qqm`Pe3mRva@ zb2kjj^x?{|%wJle5C8R(?Ez_h@KE9v2am_8w}y699rcXE9Huyx@If`5;rqnaYAO82C+>?R2_e1 zuG$vya%$i}M@ZW)jjkibNd*4Td5ETqI0_BeBxbuGzmB6QG;)Rly9di{H3%akk5>fS zCN&N)Z2NB!tlee}qqi#dy$Gr9v4lE#1k-I9nmFQ8-h}?vNKHoeJw2;!YqGg(?^Msa zgQJ!EMKC{>PfiH?YPBUX7+Ku%{BjA?Z`oBQYzbz|xdSFs7|o5`x*^ZUnvSo$Kw;u;Db2%%YQ~a&)vM&CITy@q%*bz0`rvoC&Ykd5_ zAZq4eEKb?0+fVO4s)J3BQa1SIR-J5K#}O>`{3=*Bl4dIIIXYL!t0!H2J~+Q^n$wy| zv!r0FB6TIiIFT;Vs2OFFxVR~)t&CXmp`+9EQ;ABfrZ-q_!3W+k9DHf3doi0N7- z+iSIv5tE1|-iKCQVLy8RolSVmzH5s)6HpP2f1y`+CK=aoJz$ z!p2p8T7PLjQ9SePHxW$5gA+5DX-b2WW3<6j&g$Vx zPs(4~FDzy-gmlzVQTlKs*@hUn`NP!@&t7U`#WZ+?tPiU;te6K)vn`Y*7P1s&vIQ%q zke}A97==9z@{lM2Y3rdZxyN>5#Y}9&HmDfol2DI$Yfgf|1U{l-M^x;HiXBn0^2Z%f zu_G$BUsMdL)C?7CwPfy0in&6YmrY)Rgd{{HN``|##Z>sb-VqhEiHddd5|khOcEZN8 zZgu3w4)Wx?*U3!~m{^n_xv>M|#@<2YKvg{~6vqIwj&JNohA`WaErZFw^woq3BxU=K z`M`ZTz4upPEggU1+=Fp9HV7xlgmu8;5k}nvR+Fb40!s?XELYTrAe#DWq^Z)3!smzJ z$?zK9c6_Tic!~_51Wc*rD)}`S`(GxJqC5N*N@3EQZBv@RP3CI)nLN$>No?km3~^*R zir)4+cGW4m5)9o5XlW!nT!{OmUA^0^1H-R2V2wfgq!r04nf^*Q^gsH>LgoaHIS5-N9QZFTiAZ~!_adqx7p{} zJXD@1he{7LOHkg&$$W0KR3dJ>nbzW+^pfkoTcj*s)9K)JE_2rlL*!5IJy|>l2{&3x6yR844lQJeeGaGyu3`-&ne?<+!xhSj+|Egn zG^t&6A2{(1oYkAS_@!UhyX*)*a3V5+%p`U>MVm4+k$$9&L>d~YLHi-4E3kV?&x?KT zP_-Ym{j!7jqp!bnyZ8hD#c+4&2TmuPDr1e;T#@D-u$NQT#XqfM*7d(tUfYNKqnQ6D zt-^&)b%R!+-vVCWTCr%YVw1sEs@VKbH5FU)TjjOAh(L-3=vuSw3{-0>kmY;~W>j{2 z*2&1#3*#;l52Hco5+Won_7#^A%GicMm_J_WE34P`8w}cLq$t@I<)yFZ()DPa(xdoz z_3QK3nu0+Kb(u`9kDgXq4=T3=gLaW%s1&KWjn>0O*uXC^CESC0DrT~-^&o`op!F~@ zFMG~+wOlt@qBq%wDz(wyt({j~UA?(_bB75=d_$|&DN~q#P9~+Z8E-G1PQ^SyZI7UVV4gqX2xe+tUo7K$J%buFn`@aZzk#_lh~OC`DFU?)JElvSf`^CBW9ZLj2EJys+i2VT zNT8W}jWQd+|Jb!nJ5Ik%0yCiqwTxyQOo;IVLuqdPFf^A!Ae4xk_5-cdUKhSBwUQs` z|2Wu+I`b-RCjM5~ia`i#c0yh*g!K_sSwmG&a_`Z`r|1we&*q1&ZlVb6qfhy(ix0nI zeZT-F+8z8Kg|u~qq~|%M-rc(}pj7Cirg?upZ3(JiPk5A}^ZxDNylD<=_9=>qAe_o% zS}PQ@j)Z7REBR^*2_=O}0YOO0+n7=t?1jM|HgR`~k?=fzr~mPqQfx)PB#i+dtN+!d ztm(E^85rzg;R$q?{7W`vY32k~HyvGTx{H1{XQ-IClDP_6(p{Y-U7ZxV`VPs8EZLe7 z)G1k5*LmwS8&RIg^f87>1Lp0tVLEU;LY><-_;B4cME*GB;?_+w2U_3_bJ-u;k*67T zPr=}M0pKE?czP?(lF1Czt8pxuKf3N$GJmD&N3!?*o!utuSZ@oF152Dvb_0}iVHM&? z=hb43>It^CMzcpNHJZJ$bB%WLb*r-X#xPO6C_jeLPm7x-Y4W4sonW77x};=B zElH}RmLHYqryHY=n{2~5QBgHS>EOqw3C>B?PYr5#~hAePB*|zEzqaiZs>GO;y(PJfaAmWF4ZYLlkw0q7G4%A6$nh>JUY5izrf6 zr46EJR~foDz(}G@Yuo}bQbb)7j|g9+l-XiCd=YE*3gywcBVs2wP_&aeG|X-0&9DjMhrlgS=u*4^Vu{4;=i&|{ay)PBOFhHTkP*ZPXdIoj4v#|)tducQj% z?K$vY+GM$<>Y)>Uy?35x0`YhzqJ`zQD5`CGOy1Yy!F(2@D!e>E<(p8FT%Ck2B42+<|jzn)?!VCn? zcW5$MEiKRXS0SU8*Kt)b)El$Z38a#>R5o)ONb?<_p z11F3{JDg8Ujdnk}ePjm}{<4+?ZjzOYJi^x&d3M(tJlU6i4|EcI+rp*0T(N~bxrT2B zr+vcG1cnxB=r|AyF5)%vW(BPKd>?qT;!A$Yd&4iKbnNVPGj`V`oLO)k00U^Xg3iui zbWS)UxTnKqu>pKGbGs%w^3?Tm^+$x9f_4Zy$@NKn{_42W>r_^m^9}7&r$u& zG&NN`%j~h;0An&06!hk>~3B? zJ0#*_!t$q`+L?9jj zSEl=&(og9VT`SIqSi5vYOCEjr?s;TA=i>&HO8E!Q5`O$Ltz8v;Wk_^Sz3wqb$an%H9N2w{AN`^yxJ-!9T zZjhQ1ggTppK)6k3)3A1bcX^)MO~1$JZyeH(~WDM22 zMbDw!!@Hnn^7rnR{I_?$x8Z6o7^q&)tsK9#o6LRVOQWradKX>2g=qWV1G~221!d@Y z5vK_MDAzWnEI(i8+OCi+vchgw=yYYdkqjBa-1q*l9oHq(bvT*%-W2ZXr5y9?*b9TU>83KJ^1y3Z!)bZy}fj=iyBBO=n;e|X0Vd3z!Y|$kyz=aNS z4W!y+MrK$`FS4D$wLZ4tg&8haQwJ{hlaV!^*};qDW&%4zh5r{M+PM`>tlkF)v zRPV_N=GZH;19KNL7YfX1A`H0@^aCN4m+AY7)eGtLWAiBEdWSin)@Y#m+a32z42rvf{Z463_?X@+w| zzWbidw8gOxWO+qB559ESPx0^J?PadlK6&rIz@~#u5}o|XdKoXj?YUO)jJuI9?ZR?` zFvAow$@+{pP?5S2_v-|_wx4GOn5S&=B|0vA?`8(Y$>Ah0)bTUi9^Wx+gIzpqKv^!W z#Ue_j2((;S+#VvBu>v{oEsQx2=je<8CfpV7%y19AP@+1O47DPnaYtZ^WSXXum)x%m zOc528_LURdgJ_q)tB;!{2JAX}2>h+M6iGpZgryG4TNMhTbVkl2Tluxu{7W6E0XxlcH z8aA#5<%o(R^_%igO-3_xrH;%oK~FZWisMDeY+OmZRI9`F*a7S^7_yd+_w`_xKNphJ z=V>lKEhz0vyW?K|ta3ZEdo1gB<`<5Tc%75Ki$3R)FY*oE0`HP^eo(Yab|ybn&ZJU+ zE_5?l4~3}Rllhrs5+gH{@!uOWx%oxD!J7bvlHUKesjSqT+&mpQ1{%7umsA^^vXj!kZjj^E-PD?TjiDr>xXia$wpjMqJy%jP`)D?ra zh4fr*cG(Wu_1`N|w9UF9?0$m}|F~>~He&9E5;tnAiMY7mtFJOA>1N-H)tEUy(BkN9 zI9t$2zL?n_+V0_3%()P(=4dHpc3z%p0R&l^Um+C8#9D>+l#JKh?(cZv>M8kMWMnOu zu06E$TEL0-%suG*bO|KDCt1iHGWD(=SfW!B8QDX$38MvgnsghFVCfSNq%L~Fo^WJ2 zcB1BU$DNin?h}MJOjqtQay}L2LWnKG3!nQ2p*^rgP;RWkLSIP0UoFX#&HfJKA3NM5 z@nYjJxjmTmi{CL5vI}wsI8U>%z*RfNW;yyo;^DHm9sAar+U^SG7l``7+*z*s=K$K@UOH6!(Nj#;_D$nKz3(IYG$W z>$rZt+q2L>KbgUV2MEh#_HOjwhA~D2et@U~14g#{4UcZx}}8 zVhG9H5A4)`HI4Tn@^51jfsnhO;*-TZ5BXh@9--nni~J4NIB}IF3tX|jY+CC7T@z5HQ@~7U5J%)f-MRlQ!z^ z{8uVbwfa)L9z4P!m{weYc%QJrKU%>1WhOsbq*h3hk|gHd$w4B@B9+Z3^IrPXbKn0m zn%VACULQzClhtC_n3+bHq`%9~MJw!SBunek;7M4^zNP|qt)$>8hprzGS89l|*{TR< zBbAE5N^4aVVGE8_G2sOuY{ijgRNK$PtH+z(A6GZSA-ViCx_A$Z@_0Y`aD@PwpM-6| zQSR(c42R9BWs#yrkJ2_sQAMG;k$1*5N~srhWNv}c2pv+i8n)9MDcbb?^#2+u+TnRR zJWq$`>F_)qp63vFo<=zDa#gTObL97DndbP0u<(LbwF4}?;L3eHSa|FRIHZO3HDKYj zitFEj11~7B9S*$1fp>air#E(bW2ZNEdSizJ?{MH94!pyGcR2742j1bpI~;h2UdAsw z9C(KV?{MH94!pyG|MbJ4qB|UThXe0$;Ov8A!hu&?#=|w5t>$($;1BC1!Rk9!^gQ6h z<0OAhNdBCVdp7~Wi<5Bgy^7~Kqh5?Vtro6*`AfLTb@`NIJ)9dF{UruMW$Vs=Q(&ZFLW)H{!Q z=TYxG>KziZLt?%f5;Io8@-MM!_4TkYOe#vMCX0DBwiyf)6jcfJeNeQUhnZz5J!&7TzOwS|Aimy6{cbT z4Cj##gcg;`G?JLhlkD^-pS997qnn4Fkm!+KfC^A<0coeG=2hdJAWEhv(?XJI`q~&J zxXa{L}W zi85Dwk1FDxgp`Pox-TL1P=vHY5z-GuNaBPfRo;`3d;mgJ(=}?ax|Ka;k8Q;0nETU_ zR0Gs1KCr#%DEsq+6HV3q`C)Xl1JThBM8`M~9dmy=Z2#zNy<}tGgCR10_NT+grRv7c zbhxD0_l{i9>^?Zyk>xVhahzZ^Ha8wQNyW_QC(a@_20n9z=!-3>$CakIN&4m@sl zH;j(Q&2G`QaNOJ$%{xcU?S{SOuiD@>8H3mMh*)E=v@+N}vy$MKF&aNMmk0@PKl4cu zx?lQLvC&(^TV=Z6DY#|OAWW!sPHACInOP_|r|~BxbGrFevC*5v3uXG>byAyQ3Jw-A zG+!-;3FGfi31wESif4Mi*4Ea{I+HcQm#^&^IMJ|?na zC}M8prXuo|W(`E0N}?ib_;>RlA)QK5@(@H7 z!rH_RX!{$^*H0fXr!+5y9+HW(Oi^oti`#30&<|`j1Rj4^V{Pm2v$guTXz@dHw3m5$31bGy${P; z%Cc^#Fpc7|vn)|^GWt*QRql(wkcf9#0RbjzMv?ar2tey#ont)#hrk%-Hp9{}7X~KY zXO|WHu+hjc4C;3)IKY^scuX`MlWM?NW#z5LRDmtK@wm7G=ApNdKXL5knz49o!3E-@ z7Y89X@a20DdQ)eKtbSO{p@)#1+;}7B`u&H~^f(qBHoTkPRzQVZI@Yu2V|Y+V?wrXC z1QEIMIN;bOBg-TIwSxa#SPO?;UVcheGE^)~UlY2g8oI8Va4%-3B^SD9s=7({3*D;( z%d`*Idks>hOI{M~CsL|vW_GF&nA8qFc$jFv%qC+PyP&tg4?@(&@U+xM{FMajaTP(t zg!Jtq=I-nylx-As8VZ>+P!Y3dkKU)9U$Q(wTHCJibOj_GH@|3Gk+@)Uw?U&yG?#}- zri1;N(|ae&N=>bVa#k`c8gVsB7O`P0-WPlQ;s?{R^_f>rOj)Ci-Idu;4U04^=93&r zS=3dN8u`p+i@=&JF+%Wp1;RE4Q>OJ7ZU&DREHWgD_iKphR%KJ6y4tQU6jSf+M%S#v zxHv@9m_!P19xWe}Sh~UMf)+(d*K{ctV@Tm8RS{&EKyroZAj1r%mxnCEwlrmP8;G|M zW>|h}ve3e&w~(+Uyik%s4O0wZYk;ApsItKk^|=Vb!F&unL`O8tem(tM{_rRZ8k8iA z<)gG=&>*D-D37~TZQvbA6+wg9rA>ndHQ3R~M-2i8U2E)v^65uc@axxZC;@m!kM(rv zgzaI2yM=Yg%zmcCmvF;Ym}9~;+O{$bU7;9m{8#PE$|jl9lMXTszT%;0QQ0huT;sY7 za-n8K&7hh?Vm&P}3Wh>iZ^c>jFEX<1q`b2vRX=lR~=eEr>`@tN8c&65z zT*N!(=7zVN_^uDz5g%bo6!zI5GHiM~y6L^gKHq^N;QAqZSFoYSkz{rnCN^G^oA(#w z7{@%W{C%;g7MvY&{BaGT1=SjQs+l#mr{8Z=T(9bkUK8*^YO&wn2i`9>cBXi=w zzw96u{$jSyMkMKebxK z4?133Y+^@@WVVzO@_B}pLr#D*E8asrth9x#<3rQua=JRU*zAc$FE)Bq#TIXh4}Ryy z;-*ypDvyE~#P{qii`B^86lpgBY@sOH0Tvfa!{J@ZMn9U&?796Jg+y6c+bVF8)NHw2 zglF&G@vF4&O~y{&bLV}}nf0IjukW6g@5XCq`c9pNU%lxU?VW{ve~wbcevXY?lU(1Q z!?f@IV)_){Xg_8=Opfz|#J(IXYOgN-qvG9~hj=zKksm7TF1Bm8kCiKV_*JOA8MW!+ z;|&kXi-a(0RSK09s%=*gFUQKS!EfiIf7||*-t&Wx>-FNx=-%qtw{ux@X7`uBQR&b(uO)@)~OllDZdg|?~7Dm*jt+9qwJ zZSsz)w9U-7skW(#s-c+w1a;GOzSy7w6}8T4^LTu!SkcEYRn#&nR!(P&0^NUBQ_Txh zg2#KG1Xg>AHO@tqoCE&=wQnncrvcEIR^IDkIG&)mWau3v4;Hjqpg9RB$N^#&mD zcn8`f(ng~w8AU<*T%Jy>AaFouz~3@u|k>Cps(k&GHDa1q#W@!|lx_oP9|KP2QlVJXe7QVj!^MlmpREF}o0` zdQ5)cYVaLSa5LC*o_T})JgR$&P9Qc(7LTRpns=P>0c&+Gkzo%spQn{KiLAb{P6_`% zT}_seE*uYis~#B3wXOk)QKN6JhYqtNj8_$PO^Yxk1KuN(8KyU3X}XeWj;|o@ zR_MdESJY|K_fkQnO~h|VVm*tivqOI6JS11nHZ3*{VXo6+vqDJ#U4N1>Ks6VO2UB*@ z?Q9!0v&Fp1q(`c?5bNCc_$9FcnMN$|TnkrCf3?E0bPp6@p@+nb*A!rHQj1?uXaa ziL*>q$HZAMFXUtZe~gNWv+hBwgssCeNI|P4byb?T%GyZJ#2^JoEH#`mqa$dfjCWSe zJu2azmTYIblWheqD!FLwT(Va1^A#p6bDn4Lxi$A!yzKmZc?rrWh%TGM6+qJk)#v}% zyVmA3k|q0BI=pfBO0j^us^3!VL||E#J)?(L(#-5c%!Z?ZmLS~FTpFZdc7Ob4W>xiz zZfG7d@(lhY1NF|T%B(zj5_825!X8}R$wK93YDi=x)qG${A0?%iQZf=&utxTQEcuyO zXF28Y^OV5HD<(=!Fj<*P zh*_95#q|uXyN+{mwhm`Ub+9|PnIVEcWT!R>!xqC^UdQsZKDKr8*kZ27+*QSwgkF0qYRad zW{aA*?V8J~c}wW0$OMmbb$Vtg=)U_7Be-cZLtt#BNL^C4(SaJD@9!=VqiHfa3e z9Km6r-p)pY={7+GsJd(uM6ljQWj088ZlfBe%ge%eGCyA2sH#wkrEk93^%mXncCtLn zuyWhUadlo6Y?Jx%;&xJn3L{_KU9RcveuveGBCt%JqsuQu5jdt}8`-Ci)lmcJp$I;zWs36Y8xiJVcddVy1KDKSS*{Hb|tR<=g|Pw zoS)vMrG)DIZ@;u}zv$es-DM##B)nVXv0<5cOMvZShz=W3q7IpO#-8$aevzP!(jx6z~jId4==;PG!j(L1NceqX{Dk0vuPAZ zNTc0DJQO|_v$Zn4aMR*zXL|X3dvkGnes}ljmvim>zwgg)uiKZ}&F7EzAKRB#H=i%h zFFv&!TKnhwo4cDU`071K-gW!>zN&8p!KAmkg;Vu^>Ks=U{l!PXt(#trAr}EM8ZmDV z7TzdPh?}H!i7XS*q=(OxNR&PSS)w;9#Ien0upP z5&XClJm52);2Iw)TTkow_>6{+g5-f|X;)D^O&{a3&PL&;j)p-)gYlAM5t?ZvFN^^_ z-^PN{{SicXl=koxJ--3`3`xiv;`dP)M$b47bOVmMp?Lj8G#`5QV&UT#!+|pgAM1Jo zI5LP;S|9&0KuiHXd*b_}>`BFxPSEI+uGGQk!5?+!#D`CA?H=5+{V3|Sw01a#UpGI_ zz&ISi-PO-v^|hn+$Gc+~a!Tnw#Q7>dj=~VpMcMZeU>Ho0q8%^pZhsK=u$88GFCAyL zJB|o%`XN4Y&Q*;412dGx~N5_LOz*(qX#wD{POwsE;eMX-#tip`ieGEeVtO=J+hxTWX z&bDxdOQ{sk=(5&EQmvc~Q78Te=eckbK)f{^AW zZ73b$(cM}5Twz4S4@LoItSAUi`x;~?*MZE*l<9%G@^CTzxNwC{g09*LqN#MxU46Q3 z-yKUJbZ)XU-RaF^Q1$xgRl^?^FU_O7He78mm^MkQr~d<&0e3n&BUD`F^_|4~i0ZMT zOcRv9Vv?S8P}vx^@E>Z=PM=Xo2a{f`gdh4l_>&GrTFsCS3p_laYY)kf3Vl6IV=xmT z!_+4}Zs~S%wWkv{uA?;^`4hPCj!Vy_Yz5DO{}t?vSe*HoNE0fA%{Op5GTE- z0Rl)m0pX?aZkR7-@_~EPM{PXB35~@4K+~cSW#U*))`bols0vQIc$$XUR@^UmHOm8# z&bhANLm9bwz^f8Yql}OxdxsLRq!K3FQ;40z)m6JGQkNU{6qZZ0fnHtJMtf1=t0@#c z5(?O=QfElEv9I7kBqWI-(h@(w%_vL(yn}iOrxN$R*q#F%5ww;)L*YF8gCJk&Xd7~y zHJ}CshQhOX@^t{UAZ(~XdHo)tT#x>TjpNG@N-qc&Oz1P}Jqb<>hX9@Z9j!?^t!quf zIGn|e-{0V({r=_*=Howpe{!;mj_^~?dQpkeFj^9H$Xw*du$Nfa%d80j&2|_s4^ga>2QdR}q1qhg z+17diigoO3idK9{d$qA5!qEVM!_dGL@b%1t#+N!4s`l%r`;Xeyr~8|;kFe;spU_f; z?!G_2Jiq^RbA4A~!Zx%O85nUkDM^rUE`77kWK%fWO{Uk!$Ll)HaUOk8FNLFMD3#Ma zrf~eeGB>7pu4TB?&ED*G4)Htyy$(RHzck7BgW-05kFo|!6TUPGe zT616bXxwSax{7|k;Dx{2q<6Y$T83xmFaB&`+@`>4hiDk~3#^`DEYQ>^qQgw(%PwV5 zXY_={;&p?p=OWa0Wo$3L^!k%-|C{EsyQW@U!TByw?Zv|Svch+YuIz(&`OWREQM6ee zJi{|gtB?oJtUPpIC=H&)z}ULF`^d@I(j6D+EWp@0o5x^?-OpF!YjuuEcT7C&OvBwp zPCS=#;>pfzoNmcwEv$yQuD)^VC!C$-U0IPK$vt^&Ij+I%?J^`Wo#45(YFeHliHi(L za=E-0&5*=Jh9uK*bi)!eSk~6M8ImlquuB$YMQOgO^jg?p*ekG8eyjU)DHme|?8lj>qR7&9%mbXlFvXy3UXSr9Le`GKr$cm zEzrok3V21wRTg-q&aFlQyvlr11YVVXRV=g*Fmk5(7o#d)I;Si@r{a9h&S~<=;+&Rz zRV=g@Fmk5-?}w`VE}<&tTTzvR0=EtHajgxg8@lb}g~f9Xy?g_zAD0M=EVN&$@^!X} zZRlLLawBKDVV6;rXMVgma#d&*Rk@4FC3e1ZYEhLV6?vr>$<{qX_ZA+NmQ$4*+&WN| zAE?R?ROM?@l@}q-y5(3P==uGZ!#Eo-4re=%bIo^w4LG}NzcEP*6 zWgqxy^gPi+8aiXvB(83U;YZ@`{EVc96M7cj3BniQbI{;W`)96u|0EBMd>yTMp8SNU0XoDSFrk6M?A*|YDi`OpRV7*rK#FSy!bozJ z<XbMjd?xo*}iC8wJFHqEo+2 zc;gyLj)O?M_Pc^}s~1Q%(`*Inuz|4E66bYn0UCwU9*<6q=vtvQj>4T-GB-a-}6YN9FXx7=trMwCRbq9 zu-DQ)4TrN)1ZO+Kw1OdKL78W$p(%Eo7mH+y_UcCRN2sSqT7Do;b}%{OwAm#YNHv+`2scon@@@s<1Addbyu#5Zwm z7xk{4I-@Oz*{+wrKkUZ#&S->LDdwylIipJ$Qgtntr#ymrdM8hJ-2%YUtvt@Yjr-ZtCDxbpS?6;yNlcWd+|ie zlWikUw81`X=81Mbye3byMXx4Vr!sv~?ujmZRV=hWPc${Zk<;}41w7H7-Y9sYy>jPb z$ydcfd-Oz8`n{;)iyb#|2xDXlk);|AM{8AJiI#=!wIY%rHu>y^Tgac;Bq(`Vb< zW%hcd3})G$;d$$o^0)^^le0SKHhIOJ52XpWkNhx>WcD{ix2Z$nxS`Ptgiyz``L)4p zQ~4U<9LW(PJ0n#N>#cLquu zV7th@FdQHz2dpkZd?53A_wckC4v?`7Bz26tq%3!LLPhlu%|x<6;*%Rjy+9=W4$_Qz z#Z2A_a|6NohQTzG$2-|3sOskv9k#Ul#Z-Y%K?wBim7za{c>y8u2gn&Yg&Bh}KlhPeEE*z#9Ifl~Ana+xkAc=+FTg2A z3=2l1Kbp;F?)?OjI^~N)iP*3F$*EzSn6BIOV1+LKeKs40r_(=Sgl$zy z6wq!#$c1jD-E^m?wrQQ1X4A43dsk=%3Sh^$cLJJ<)wGS{^36i$g&=RsC3MUjF0f4r zMDYNN5fOcqVg+fyvJAS!hzk1(7BVg{%Tk_1N{%Y?NaD(gWTVKe`>z=Y0^J->fq=>m zh%FVFA(QrD^-nZ<;RTC5%BGLST^&Lvsy1~)Ch<)97G=)k zMRr(q79QRALHuGU^)6YZYg{8zXvEr@+J~TXYT74Ecbb%>G<#s@6T*WeCycr6`_Fg? z^`fDVE$dl<$TybKX83q0Xq()pr8A*~A!Ce08*T#e#-3= z%ki2XPh>Z}8Mhv3HG3o6%T{6Divh*kBc({X(A_N`DsTcd7g z&>Drq)@aagJw{J&AEs|R^Fi;e)sLS>y|4CLAKU&SjmIzQ>Ast5`%9d*-5U2El%n;0 zVzPFRzuH?G)*_hXd%4R;Gttkj9!$z|+LOH?d~!nD8j92wp!zXANBfBE)n`V*LL(2Ubj8QgGP90B77zMSG;uH})3pW&Mgp?R3a z4NFH6Pb6SsZXCI?>z5j~i-#OZ#M+dzzvhnzbfUBkO^@Rbm2_ zbrj@`#FD*%rv(X0hLu!$z@>f)t&L|wtwGxwzqt_3>h@!5$i4@iu7gJ55!}$j_WR?4 zsgW8u1xq7it>sPn&&g%5%Bo;qQ^)AOJvt~? z(WYH5}gDPIeD&T)Zt6*0_TaIH|j#cgT+B9ejP6n&V^%oA> zTA|#MPA($r*9g_JoAN;TK0>u#@pdo9P&r<~blYzX6?1h*asssDv8@~Jc(g_gm8Cmu zcNCtoGh4?{*}Atah3As4)QO?8J+rC{YsOI3si}4h6)YG3RurCK6tNvscrIC#8ZlH$ zOK%)QmF$|eW2owstQSKCHCcwUX-!G+({>$NRn4VD^;fQtaIy36Ao41ar0*p1N}Y!r zL|(lI!Mffc^6EW^!1e2iyuyR8k&C>NpOi&jEqqlhw6Dl3+59Wv0L25okqf4gpOi&j zEqqlhw71AB+5Uk8^bmP<}q-h!lH?NHOJ2X{-?`2I`W- zoUJ0oN)OB3Mv6I(&BgP?2AH<{<}dG`*u{9%{q4WH_H^#w{Pg9^{xNNgd`Pte&ph45 z;HHMQZuVZ;P*vbrMri(yn6^d7-^S23KSmHfocw9H5q;!8=D}^cp;T$uLB?BRU?m8* zFHmFxx4$L;PJ&Y6^$~8%F)7-Sg7i~d5h&}R)Zd=}a(=1BT><==1aUtKd)g2Gsp&1J zp$X6rY$_WRSd0`|7ulv_BnF6<Qbc#qz+f<`f)--5&bGp^x`2LD`xeDoT+TDH^E+ zvc_%CLh5@3PorQ75KSSAS_TJzOY&hb8V%xp7I}khmtxss8N;N?Bw=BBEL%PZOj`&G zYr+`7NFhj;I7-v;=q~qk!$nM$YdD_m;mC9ZTG@Gk9=9Ev!MEJ7Ow)AOrWiHFfw~qz zEz`GRk9G=1EAL!oFUkOkuNQQ6DNd{U*sBz&uuJS!`HgzOUi}5Y7%zvtN?n4r`~e5- zmBe1@jC+<>t@tg)UfCEmQLgwI6zjF$?9DatRyuF$o+9^t-FU0~rYr1oykp@eLmev` zfswG2ZT@Mb8QN?_I|*)ycN7250ck)mxfmA^t7z#!UM5|9=Nu~i63m1C9CVC7<{<@* z%5Z}2TsuPRfa%8#?cE>@gGndoepLaMN4O}*GA`bL8}lg$lQ2V6ZeXC=*>9gY6OYK5 z=UWVyWU6yQaf07=;5P3gT)z{c-kej82=6_>_0ygP6BQeZgAnL`aW|t*I2%nHX_*lQ zR;D8+LV)%~a~d@-E;RHKNtiZfz7Zplw><8~@f6huREl7tC@;=P3omsu^`@5iUbAq}Q$)c)DfFSGTT$0`OGS?W=9 zOcDEr{tqn}{W-_S_9R>cG^!9R5S--a{v6bF3UY}t4!Bo2yCMvBM5~yrZn}J+S~Q=1 zftnYK0UyuhhP0524xA38v4eilq?07&Klmp>W~h53`}%I0#4;sgv;8 z3~~O@E}VE2vi~sgr9VNXXu@FVXe@2A#5m)glbJeBs;O9USnEkIFSZoHjGPYn!DweF zV)t1I6D%3nN8MFcn}|e!O%e418u8>2(DxE?Z< zaWEM3_b{u}m|g~%YUz5*JEG-i3zjC&X!78sbH$0DLP(fqc=pE~Ah ztnA`J@#_0ren{rKow@S51c1$3E5F?FhSqLgG_)pPj()Yr91b31a{#Pei9-8-_O3*? zaU{w93Q@oUHkwlLKB}+-sARQmj4#-pp03?q7_>y&L{XxelI+r8cE5ciA~Si3lt@W- z9ZjHtF5Ap2GBYwV--`&Vz`qk3NlsX3ncoyyXr+HD7Wx(h*i7?PTutVNQo+?cuEFeE zD^s-~Q_{RSnTp?($aM8j#X{eN0GnxlTcI{0z$OpaXsyohbs6r~ap+CAG#t6H$QWDq z0pmRJOT;eZ*t5&Ns#vz8IEu0hNw(Q0wH-UZNevY=f5j%{AFnPbQRwYSvKvNzd#75q zX4u{Qz;)Y&eVrM%j##i=Htgin;;54%uR7=&EZEGd$sZiAv;pvV0f{3xb7h!{h>-{v zTDV*DA9~W*$CydG@x}R8d%NA>7^+#=4OZoD;2)Rm2J5@s4Rnj|>bZd%wq@%XsyzI{ zbxZl;>8Hg}Cq=%;L8A&V3o1afT?fN^q?7IFidk-+h)-9hS`_(S2fd>A9K6To^`2Fs z_r#|qde3@&y|=@l-Qu8i*UI`s=(+(DSLQX8e!4PfQRI6av{PK(mTH+wc6nQdQ$Ewl zrz^`_6#2HkFAXi^;;ln*4Wm?-r5~4A$h^=d-xpn{$Z&7(`l6bSyTSos$ z&0-crY2#(p<9mKCi3tTTOyh{IA>u>tF`$*D<@zY7_~m3V&I*@6U=I)YHqW1087_g( zL0RTX5*(CwrnZv<0@5ivRI@eJ+RY(g(-SizWa3l!x1h84IpPHJ#3uuE=kZ3cG2#DD zP%uUcbKps%1;qxg#5OC)=H*OY1+EcJZt=#`CvW1<(@&A!pL;ziVb0q~cT!;!Hzj=c zcO7f9)(Gp_x;S*>B<)7$D2Yy&8AXqe;v^kKHI@FFNCufOvlpNKuChS0HQDZL`!Moi zumYd2!@t$e<;l?@Vr#f(#~6qkH#?FWF!&xql^Yh~LBDr$C`+EWbs)I8m`Ae+qwT?! z9Jl{71tW{%5n^t^_bUSs$L=b?#S z;D`QKf-l)PBdtAifx_m$PA^1?Ja`Y6Nrgt7nnqo&T30z zjPG924oqvNA)am^TLU!pu!srRrU4Pc3R|w4mmnSdpJx6C&Gu@v{@Ee5TLFs)6AspU z;V7c1o%lS+c^dE88^PrgV^AObvCuTjv{_@>HoDS<|8gJ26VCt0HI=Ri3XbQ^r8t;< zp;IUf9{diHdZBuv0OSe|;X4-cI-UP4BcM~Hm}FYw$Z#s~kP{Y=SVW7Pc8*w&!EF3d zdhlVR`0Luh{v+vz&j2F(b6CnSUES@K%63FUMaR&y3OfhVPd`P`mzyU)e8``+NsC#N zg8D@USK@_|?QibAWJ-kbp)WlOu4KL-@hE%!TL~KX=R~6<^Ro~Z`{m_jH752w^m+Ck z`e=gbW52%-ChuViDbRIBJa@v_>5csuiDBp&5&Dm$8PAdB0J};A3TIt884Paa4Tk~m z>K20yAEOvn%9z}O+#Lq{TL5NR=i<}N-5~UzkuY+n+LtF+J4zt!-)0FYZlzmO(Ps)w zGz%^VHC&noH~r%qlCRRlX$p*Auq!>4C*{YjP%M1LgKpF=V2P5jJOtkV^iDy|O4 zY-+*guTYE%xN<|wIHu{EYgYKB38twmt@BG0R8^|YRt!sP=#^G^b0J@}ecc@74ZdnR zzO~95J=HRI(!1W#_28m+CY^k~8eCtU^=?jkuy!sljt3W~x4ko2I{L>zy1m3soqRsJ zzWn_&d^3=a2EU&6PX`zM&+s+;=H|37-9i=bMC-znO-yAXFD@fl%Av8Z+K-Iqn`+T| zuYdF1uJ;OBNw{dxE#I`Pt;9i4pz0Pf9yH}RI zdtkIo?3Rh$GO=4GcFV;6zM0r{p6aXZ%zb&UZBL;om`fGWHbhky(PYITu7v#dc8+iv zcEUbElg4g!TTH;d4b%VKw}+l#=mifwO_BdvE_w!8j7ICCS8f<4b`&ET(Q~IK=^ges zLgM-4hmT|}!lCpS`#eQb3Kxu`aWFwm0G)q~`76G#&82Ai1m{3FjzES`jd=D(?o%`w zQAQk0W=b(2$TB=oP1`cisQe8YJ&r&K{y1w@s)tzzcu&$C%K+U~I8E_zxw1+0waljfiLq=BSw$O1k`{!%knm2{@BzP zUnHTVpc5EGA;QHr$HXw%grCqN^|4a+SA$FGVC;Pj#*48OMkDDzC8MjTEcc5)_aqF0 zq3~3lIfGO@fAjG=>8$`w7!8|NO{k|sPw|wqZBHoY>)< zRt;UXD7IF~(;Y`Fo2~jY4|e9<_X;4hqZoxvt&1ar}q zeuYtG{(`31>70cCA;XlJ>xc~^(H|w z7S(lJhU478YJ)Ll|Kyg0)<_oMC>XIMU`!56*d-iP6xpK_GmWnm_?775j+U5WyIREz zH;AC6Shl6>yVqlDre#zF;@WD(-9}8z|MF>mnI$_D(_L6xJO~Gv)#)ql1HC%W38zJE znc$(abQOW&;=y@ZSk9cp!B=zI2Gi3Np#=WBd2lHr4e?p=F54LeF+ULCW1_kSGp03I z9sDjBgHEBCJ09hzrd2US@N9{ZhA0m$%UGQWlj2E+*?GW_JR*D!DdQ<-yPnLGG}dq= zAt1iw;f*t3%BlPpQnC?8H^sp%~f2>yW-^^fmr-q za&*w511ki@hf+^&XdYaUJ2+mrC$qkRtdp5ZLK}hQ3sUV?uC?^;@3C~%DOyZTPoB{5 z8?k!W;^4jFE0Qm&DV`XZUwb^y*#t7in3+-Jn+cwDvII&G@8@9vi{}xl@zJFRy1Ua! za5;^2sz}V>CI`c9EQ6Shj9eNv^);#n^Q<}Xt=yw^!!4wUQnkuE`K$OxYnH2b^#e3V z3I9QZ^>4=*nDCbD(Ef6^F>?=k%_<)pSJyDz--p`|L_FNyQ`)vn<|)lOv!!b?+{SqZ zv+b*4(pg`}TE}D<3i=Z}uBz|iQ0!=`Lz#PO)wI^5m`&DWmrs{|`!_}teGQLdXv?Lh zKzd*;S2fklp_t}m!@O>hdIx5TQtu?ozIN&z(@uj&l1n5nrg1eM8!4*5n$Frzt#S7s_web zTrQhcE_03Mn7Xl(qgu_oe&b9qKWV+|s0ufNq{-iQPV>ziAN~HpGBw+DDpp%b0vz2? zH4%P~=dCapKlrUZ2Cw!3mda&NpxVfb5R=h5Oe+_SNty2uIjThq(!6xe+)bG|0vX!Y)&9 z!=XQg%^xANg%dTARSMOzSp3r<^ry2WC&VI3Ka?K4AOul%rM_rS8ZVxLhNd0uzV~Mc`(KxD41*FiYA%(hO{;i zD)FIT&-f=+2KgPRKj(1K!=;`!H1!D3n!|2{pN7jJSqh*k=kzAcWC_O$tWC_~0Gk5D z7vd9qD)6M6_;eM;FavY%EBeWt56*9Thp?z$B*sp<_c^OkNE-y0u1XrEs8vp?<E&&z+xM_ih+}p&;x`cSg$@SmaMg5W^3P zhvvae4~{k%OpjKqtB?;W?sUXdMYhO`8>Z!W^;l7+2@lnBoN79#YzkZWtJt&imx%Fw zXJYX~e}jLKQl!}oNm-!sfUZ3x9~JugG0iNQEHcEKJ>1g05{K+s6srR-h6C@gR4-*K zc=5e26Mr^KA!5)r5j!mWC4#fFAv(F{xKq=4qLtHjp}+Xc159Vf|6NiiukSEf;BX&NJ zSU4k!dv7Q6LW%~e0&O=FJ_;~|it`1JX08B9&kem1u93?JVjjrZMV9OxV#KE_jB#r) z#S_l1*iDH~IrbE$i?x9SMbSoYOWxf9Va|sVY*lVEB-_{%>0@Y-Bny$I_yJBvcC*4W zXoQqBcJ8z78Q_S}RV|}KL7#o4q)O>%Wxma1s6oUQLERjG37{4P?q&3Liyooeh<+j> zJ`}>$JHup8(hJ%>N%9{Y0(ABdy!4Z{t|f$NxR}X*yu(TR<6R%*@yj3Y4jcMo!<~08 z4%v=Y-ys|Q%$hr7H|UM+uK3Va_C^TcmAd2DhHKd7CYN5@Q4CGBYq<2DpEI9cyO{$k zzZk7?U{xL6aEx^i7VB;k%q!DYwLN;Ls;<${JGIU=o%~c^^S&x?@?AA7$B{Ssu4dkc z?&{o7rGK8@o=E4Xx0n4BnDpyYys1KWj|OLh+tbU7n~E!}yvdIh0q7DJ?WHM82?qFP zoyj}1s!D@2jta>*Pm`&Y#!)qSLmO9d>&#l^no!@FweAz>PwmXw`Yg0Q3qOd@LLHB` zN-LptZTNXy8@BR4*vk2#^-yR%6j~33pWH*Cbw{Y>j9>|C$%{Jv;Rqu45ZU{-UnRb$t3+>?FP7qHcE-r=ux9f=@s8Rqtr_ z58%_k^k*yAVmykxc=*)pKFrllKfR&QRw}r8SatJh=X|6L&9>FrDI`Y=%YG#PFvCYvIgE8q0M4J7Pi%W10H=!XNJGxi9r@Vhl zZ`y`xyV=RN4c*d9xvuHQE0doT`nI(4wIk27d~MUQR4bFu!m(}Bbd}O&pMG2%d0J>A zt=w`!d<|u?FJ8H=t_hfGDW>AAJ~pjSX#uwJj#ObA>`}EM5O9iy!HQEgbr0!KejF~V8QvAsf;>a8fcfBp*;v|JZNueG zb)EN53dOfRoKZ*>`|=f58%@dEZ7h`2o3)lTb9QA>=XX>Y$4xwjJ_q=8DtW^N1udQW zlM(UICQCS5AIA&!(nXJnjBXgPXG)?92aiv4>0tU4K|@c`ec(~Ll-U@wj0}C`<$@hJ zgukMzp+BTwAt5*TO6MbEFo~W-aSDTw<%WD9ew-aL z3S*LyrL0QHBThJWoAGwNuYRWe=YaA&!F?a@dDDo!Z}S`??E4{-7%7gcKl_kih~5MT zg;jT6pbyOQ=?Ee6Qr=f21wzjb84rBqFL=RmFdBva#-a$_P7dWHFA0d4S1@~u;`zq% z_poLTInjNE-=54!PP`&IFzMUS8-77qJuD`}B=l?|Nyd6*$##&MckRL5WGSzENhVx0&sjvoUzt-Bn)!tkENp;P zJwl*@TV~K40RfDl-eoxg@UUUAWC=h+cqCgvSGo|pOOPw!AB$K#CZ`nh7vKLP;y_bg z6z(R#_HgCKypL&T(*Ep9pJ3$qeNGRD0b5x46rLj^%fnf}q@?KLETF5v~9yWPZ zD%=NwrovqIpr6zGbfQ+HtF z#}RsJ(67QJst;t=J~C7T*2)NK%CtIxW6=v`D9jkSED<_v6t)PlPK1dh-;1%2BL7W7 zl87b@fPF^XE|ex-95cTTu})K5o-!?!IhS;$BcGv*9KC0qp_Pl;h{OUrZ8|4j^e}p2 zPo^M&F?7S5J}sMO&@t3C9!|%->mw-`Rh)$n5194?WPqDn;ue3Vde<_Q-N~S41NtQ& zjl4VivPh}aRg9Zmpj6%>LxsJ#c;Wj2KHb7(bPx|5<(nKV;^-JbwwXxk(=1^KyPB-! zTN*B*>FW}P7;eI>ZDh`*9)X5oS5Pv=8@XIf$;>>mv)WX{(lxgcDYMokmPnb!JEXjU zNU5rtZ5cJvfYf+2{Wmj@V^O36I59P`O4@!lS0ShTDMj7$y??VQG)A^-xp;71}%b zQT`bapIyP~@|#^9@M9x}(-^OL>k#$g`ua9e<=L}?XzMjLQX_YaO*^tY&+skSiT+s1 zfQ4v9Q5p`Lf%<#I!w|MwZtR403@NiwRY^^RHo+PH(77brfc#h*5_8tF+ z1NHy+`LBur_6kNWeC(=sy5-u=|GW-5UbpcwX*=H!&`raTvp_eEM=k}r#mB2awMe48{YxHuA?zpNc%^Iv}cmh*)ytbo8}q~+@jilWmH?;9@Q>cQ*VT7+p4M? z<{kfsm9ggxmUZzC>|k4Y9aOt^<7KDF_k(J)VaQovlg1;L0h`IktH7oxw1Vf66yz4w zZc*(P)ov)07S$$Hdwcio9S@8Y)z({7yG6BIRJ%pBTU7gXT5D157S(Q1?H1K;QSBDh zZc*(P)&5JN+NMgOA-6=e>t1SiK(+DVqA9Aq+O4!#NvD1WRC`V2+!obtQSF}!{drYX zyOzdiQSBcc)mHUA!rGc)Ij*u*@N%8Dx>c@%HLas+9nIJ$ti7TFWr0kkho8JHw#_@N z>>Jx2`EVzAj=pE*M)CbC6S|Lsaak9a0B>#mT56n&6vkgg+*l=I@pjDVnJBzRiL%1P=wUo)_-49QcK0*0w-u4-wfM!ZXg%E7NR!&M!ONmRu0vY!{gylk;I04}rRwJU*3 zyQ>*h6`I?GvQ`dHr&kT#o=a(eG6!wvMkZ-M(9na>`CW2-AG$3{{GS5 zZD}@-BT%W!&dA5tTzqPHjHAU=(nLlcxKj{tdhYv^hE`1%+E z+PmR8Xaer9)vAY>N<^_pP#Ma5_@*!Vmfo6%;o?IK%5fWtssa74Z{Dfkgkq zNc1y`f8#f8h}Y9?epK^4Za{> z9KmvP5v+=Tt094_>}2l+IB|f@-QQ?8TX6~M8t=5ko9g@DDM_)O*0$2CH`~L_rvYT( zH}W#h40QSHv-Ng0%`Whq;!#br_$30m56nwbC~< z*%8=$-r=SYSzo!r?+^Zy(7FJ|cej2loSx$QCBCBpRj<1$dL1Tt?zdOB8MQe0&gaC_ zO>6w~FXQBMLdV1eB}~}(H)4DNCztB~S}>f#S|mkG_`rZ%Hn+h^u#fghP|Gj~?Hj>2 zK4x`I)F(op2z?^-|0h(?FsOWMJfClUQ5Jq05bxd%ut53=?QY;FyJ}SI7LBF$xCGA# z$!QPkBn-mmT><=j#2P|_GSa3EiW$6wcD?=n;r^S6cKt42OC86Q%MY~)brPgJq1&ffg%TKn8JbgIMKA`S)yt6*lK-i znNWI5UwoU3*&YGPF>(Pz;k>xzTPLNLx3+>zW1LDo$T# z^>TVBe}-i-!{oisqe}kzkRqkbNDOhudeNJhrH&Z4EnOWk$2Mw+seEUD+{6Jm~4DUV|2WS3N}__pGt+kQjI1x2!yG zMXuaJRRC++R1{ea{7Phj=OzM!Jy(nYjvNR_FQqJ)tVSsV`%Gopic*DPfoYlQ%molr zXD&>OQI*7)LSkGUF-B;eXsA>|6D(B1Ciso#&6gr)331x<)_wMlSFg2Jr<|SB-!d5p zTrc=aY*f*!O%%chln}0tm{IG}_aWw}d$lPzCd!Cej>5;}Dit*+RNZNE!WDu+gxBd- zl}hJZY4qKAw_15gG!T;44eYZ!mv$jI&yDE4w2M(z=>xQj!D~&8QWtfzbmO5>2{r6i zDHEMJ_Susm@=Kee2!k2Dz-aN{r;Z{r1O9{+yQ?t4`AmxJHo*Y+d~cQs4719j(rKfo z=JY*IkP}lSu-{|m$E)oy6ce`1PniCz%(zc{uliVL>pVHgBbGi1`8Z zjr`I^ePdF??DZCi2S0vF1Hq~!0lk8GK^&hq_Y-Xi>v2Aw93!>x<1ktPiw4;Yu9Fg* zs*oq$V!Ea4`!nn}f^l*?Y11b|Oao%YB6kb@DQA-&&P}6HdI+@)+qC+*xMk#YNCtv& zg&7FO)p^U7!`o#$hrJ{Zf&Uy9QQc1PnE13BK$stBn>wxJ5aax+&>;uH{Ps3qHogS7dr&`(z9cNe*=^+0bDw0Qy9cNidvmj?tTermh#;qF8>g%dR+u3Rx zB>pB4!yFgBtPC9;=^nEvcc|#}Zf+i%++00U$NKyB@!?Hg*E7zs@o~`e*~D)yFXa(ltmiZTVjZk5 z*8cM1IsEVO@HD~NDjFhER?f0J5<5lQ #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Case_1_father-N1-DNA1-WGS1 Case_1_index-N1-DNA1-WGS1 Case_1_mother-N1-DNA1-WGS1 17 41210126 . C CTAGCACTT . . gnomad_exomes_an=31272;gnomad_exomes_hom=0;gnomad_exomes_het=85;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|18/22|c.5194-975_5194-974insAAGTGCTA|p.?|5307/7088|5194/5592||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|17/21|c.5053-975_5053-974insAAGTGCTA|p.?|5247/7028|5053/5451||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|18/21|c.1882-975_1882-974insAAGTGCTA|p.?|1989/3696|1882/2100||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|19/23|c.5257-975_5257-974insAAGTGCTA|p.?|5370/7151|5257/5655||-974| GT:AD:DP:GQ 0/0:29:29:87 0/1:23:36:99 0/1:15:32:99 -MT 750 . A G . . . GT:AD:DP:GQ 1/1:0:2757:99 1/1:0:2392:99 1/1:0:1621:99 +MT 750 . A G . . . GT:AD:DP:GQ /1/1:0:2757:99 /1/1:0:2392:99 /1/1:0:1621:99 diff --git a/tests/seqvars/ingest/db/bootstrap.sh b/tests/seqvars/ingest/db/bootstrap.sh index 490d5b7d..dc062a81 100644 --- a/tests/seqvars/ingest/db/bootstrap.sh +++ b/tests/seqvars/ingest/db/bootstrap.sh @@ -2,7 +2,8 @@ # Helper script that bootstraps the database for the tests. # -# We include transcripts, clinvar, and frequencies for BRCA1 only. +# We include transcripts, clinvar, and frequencies for BRCA1 only, clinvar +# and frequencies are augmented with chrMT. set -x @@ -10,14 +11,18 @@ SCRIPT_DIR=$( cd -- "$( dirname -- "${BASH_SOURCE[0]}" )" &> /dev/null && pwd ) export TMPDIR=$(mktemp -d) +# Select BRCA1 and chrMT echo -e "17\t41176014\t41297797" > $TMPDIR/brca1.grch37.bed echo -e "chr17\t43024028\t43145632" > $TMPDIR/brca1.grch38.bed +echo -e "MT\t0\t16569" >> $TMPDIR/brca1.grch37.bed +echo -e "chrMT\t0\t16569" >> $TMPDIR/brca1.grch37.bed -CLINVAR_DATE=20231231 -CLINVAR_ANNONARS=0.31.0 +CLINVAR_DATE=20240612 +CLINVAR_ANNONARS=0.38.0 MEHARI_TXS=0.4.4 S5CMD="s5cmd --endpoint-url=https://ceph-s3-public.cubi.bihealth.org --no-sign-request --no-verify-ssl" -MEHARI_FREQS_VERSION=2.1.1+2.1.1+3.1+20200327+0.33.0 +MEHARI_FREQS_VERSION_37=2.1.1+2.1.1+3.1+20200327+0.33.0 +MEHARI_FREQS_VERSION_38=4.0+4.0+3.1+20200327+0.33.0 GENES="BRCA1 OPA1 AKR1C3 TTN" for release in grch37 grch38; do @@ -25,12 +30,13 @@ for release in grch37 grch38; do if [[ -e $SCRIPT_DIR/$release/seqvars/clinvar/rocksdb ]]; then >&2 echo "WARNING: $SCRIPT_DIR/$release/seqvars/clinvar already exists" else - mkdir -p $release/seqvars/clinvar + mkdir -p $SCRIPT_DIR/$release/seqvars/clinvar wget -O $TMPDIR/annonars-clinvar-minimal-$release-$CLINVAR_DATE+$CLINVAR_ANNONARS.tar.gz \ https://github.com/varfish-org/annonars-data-clinvar/releases/download/annonars-data-clinvar-$CLINVAR_DATE/annonars-clinvar-minimal-$release-$CLINVAR_DATE+$CLINVAR_ANNONARS.tar.gz tar -C $TMPDIR -xf $TMPDIR/annonars-clinvar-minimal-$release-$CLINVAR_DATE+$CLINVAR_ANNONARS.tar.gz annonars db-utils copy \ + --skip-cfs clinvar_by_accession \ --path-in $TMPDIR/annonars-clinvar-minimal-$release-$CLINVAR_DATE+$CLINVAR_ANNONARS/rocksdb \ --path-out $SCRIPT_DIR/$release/seqvars/clinvar/rocksdb \ --path-beds $TMPDIR/brca1.$release.bed @@ -43,11 +49,11 @@ for release in grch37 grch38; do mkdir -p $SCRIPT_DIR/$release/seqvars/freqs/rocksdb if [[ $release == "grch37" ]]; then $S5CMD sync \ - "s3://varfish-public/reduced-dev/mehari/freqs-grch37-2.1.1+2.1.1+3.1+20200327+0.33.0/rocksdb/*" \ + "s3://varfish-public/reduced-dev/mehari/freqs-grch37-${MEHARI_FREQS_VERSION_37}/rocksdb/*" \ $SCRIPT_DIR/$release/seqvars/freqs/rocksdb else $S5CMD sync \ - "s3://varfish-public/reduced-dev/mehari/freqs-grch38-4.0+4.0+3.1+20200327+0.33.0/rocksdb/*" \ + "s3://varfish-public/reduced-dev/mehari/freqs-grch38-${MEHARI_FREQS_VERSION_38}/rocksdb/*" \ $SCRIPT_DIR/$release/seqvars/freqs/rocksdb fi fi diff --git a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000010.sst b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000010.sst new file mode 100644 index 00000000..a69c51a3 --- /dev/null +++ b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000010.sst @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:c03c534774835828294d1f47f70215d45734cd2515bdf7a5381a3fd5022ac393 +size 1363 diff --git a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000012.sst b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000012.sst new file mode 100644 index 00000000..c690ca4c --- /dev/null +++ b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000012.sst @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:aaafba8d7636f0f332c355e8736cb3b439274adde53f0a1fa9b91d359468f60c +size 1428200 diff --git a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000016.sst b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000016.sst deleted file mode 100644 index c54861b2..00000000 --- a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000016.sst +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:d81f9f638c31152ff38e865e08276692c04067a2c04fb2cdb66051d50d798e66 -size 1343 diff --git a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000018.sst b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000018.sst deleted file mode 100644 index 0b08eaec..00000000 --- a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000018.sst +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:94323c9b71b402dbcbdf0dceea42ffa78219151f44d6c01313c46861b3f1c2e4 -size 606469 diff --git a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000020.sst b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000020.sst deleted file mode 100644 index ec4c1e64..00000000 --- a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/000020.sst +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:a25c4f901627b76d8588c287feb0222d2f890c08eb5998d069b0432ffab99b26 -size 51476390 diff --git a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/IDENTITY b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/IDENTITY index 5a3cf726..f51f7833 100644 --- a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/IDENTITY +++ b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/IDENTITY @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:d963309bd4f4c003cc481b4368e57ee302edf79e1db6a55f7e18056f3aaa3275 +oid sha256:dd07969a88d5ff1c727f087bf7cc45c1575d02358ce0cbd3df8b6ed44cab8c7e size 36 diff --git a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/LOG b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/LOG index 724fecc4..5a1233b0 100644 --- a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/LOG +++ b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/LOG @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:89eae08687f8ac208e505e2fccad96704f20a3bbef658117e39c6349f009ae84 -size 83231 +oid sha256:f8d8d0fd124e818dec5e221e2892a23adec06808f27da463d59cb19ea5c503f6 +size 81743 diff --git a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/MANIFEST-000005 b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/MANIFEST-000005 index 2ef2c320..7609f326 100644 --- a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/MANIFEST-000005 +++ b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/MANIFEST-000005 @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:c927c5b03c439187bc3303157656c461fa439dc787a9f68af7778ab619d726f1 -size 997 +oid sha256:a5aa676435392c8086072c805d9b1a026d702c7ad3e6122c930c468935537414 +size 771 diff --git a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/OPTIONS-000007 b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/OPTIONS-000007 new file mode 100644 index 00000000..b0e72407 --- /dev/null +++ b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/OPTIONS-000007 @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:d1309510ad143266883cc9b2df6de2296820e7585c3b1da41ec245bc9d6885f5 +size 20876 diff --git a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/OPTIONS-000011 b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/OPTIONS-000011 deleted file mode 100644 index 4374ea5f..00000000 --- a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/OPTIONS-000011 +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:ba42beb80657b1cc3c14f4ef1065b3acdb48cba00c30436ddd27c219b8c510bf -size 19624 diff --git a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/OPTIONS-000013 b/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/OPTIONS-000013 deleted file mode 100644 index 4374ea5f..00000000 --- a/tests/seqvars/ingest/db/grch37/seqvars/clinvar/rocksdb/OPTIONS-000013 +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:ba42beb80657b1cc3c14f4ef1065b3acdb48cba00c30436ddd27c219b8c510bf -size 19624 diff --git a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000010.sst b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000010.sst new file mode 100644 index 00000000..efd62828 --- /dev/null +++ b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000010.sst @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:3c2ed628019644d89fcb6c6c224fda8ca62dc0fbd6fab9b2366987e981a18b8c +size 1363 diff --git a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000012.sst b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000012.sst new file mode 100644 index 00000000..e500b821 --- /dev/null +++ b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000012.sst @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:8417837734b76cb0ecef3de9561837cdee39e794d1881572a005484abf120496 +size 1248959 diff --git a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000016.sst b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000016.sst deleted file mode 100644 index 8cd2cc36..00000000 --- a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000016.sst +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:d361398e2eeb07be48552c882719ee2de46be67b3af47fa340fc8cec3e582635 -size 1343 diff --git a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000018.sst b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000018.sst deleted file mode 100644 index cd047a6c..00000000 --- a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000018.sst +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:eb22f6822c42a70db63e68553dd7847936a8f6a5868eaf6bcf3186c1c9474426 -size 606114 diff --git a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000020.sst b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000020.sst deleted file mode 100644 index 65c132f3..00000000 --- a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/000020.sst +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:d0a7e466f3469ecbf3a9ed13a0e42566ede0165356b744c1aea42b77da9ee338 -size 51269953 diff --git a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/IDENTITY b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/IDENTITY index 5896ac9c..50a29bdf 100644 --- a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/IDENTITY +++ b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/IDENTITY @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:43e96ab13897cc45daeb423ab5bce63bae3d50fcbebe64cf90d15c01cf297ee3 +oid sha256:ab21135ec6be40112774a2a2218d992ab833b9d05e4249a072ab49e2af0d2b0b size 36 diff --git a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/LOG b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/LOG index bb437106..69accc7c 100644 --- a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/LOG +++ b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/LOG @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:fbdc2f6fb04908585aa4de47c75bf696affc0a2ec01f0a42a87d703b3b5cae33 -size 83231 +oid sha256:ffe6d6eb7c86986b0e00c52186028987b8eed0ecca08897aef0364b47ad5cd89 +size 81741 diff --git a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/MANIFEST-000005 b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/MANIFEST-000005 index 99993e9d..24e5ae6c 100644 --- a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/MANIFEST-000005 +++ b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/MANIFEST-000005 @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:31634804c2be6cb6e2beae67edc24417c0f0839161023b1f87c6cc285003387c -size 997 +oid sha256:f7c22251677cfd74063e19bb0c0c05aff40b8b549becaf1136079773d760cb7c +size 771 diff --git a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/OPTIONS-000007 b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/OPTIONS-000007 new file mode 100644 index 00000000..b0e72407 --- /dev/null +++ b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/OPTIONS-000007 @@ -0,0 +1,3 @@ +version https://git-lfs.github.com/spec/v1 +oid sha256:d1309510ad143266883cc9b2df6de2296820e7585c3b1da41ec245bc9d6885f5 +size 20876 diff --git a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/OPTIONS-000011 b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/OPTIONS-000011 deleted file mode 100644 index 4374ea5f..00000000 --- a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/OPTIONS-000011 +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:ba42beb80657b1cc3c14f4ef1065b3acdb48cba00c30436ddd27c219b8c510bf -size 19624 diff --git a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/OPTIONS-000013 b/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/OPTIONS-000013 deleted file mode 100644 index 4374ea5f..00000000 --- a/tests/seqvars/ingest/db/grch38/seqvars/clinvar/rocksdb/OPTIONS-000013 +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:ba42beb80657b1cc3c14f4ef1065b3acdb48cba00c30436ddd27c219b8c510bf -size 19624 diff --git a/tests/seqvars/prefilter/ingest.vcf b/tests/seqvars/prefilter/ingest.vcf index 2cb112ee..21d6716c 100644 --- a/tests/seqvars/prefilter/ingest.vcf +++ b/tests/seqvars/prefilter/ingest.vcf @@ -52,4 +52,4 @@ ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Case_1_father-N1-DNA1-WGS1 Case_1_index-N1-DNA1-WGS1 Case_1_mother-N1-DNA1-WGS1 17 41210126 . C CTAGCACTT . . gnomad_exomes_an=31272;gnomad_exomes_hom=0;gnomad_exomes_het=85;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|18/22|c.5194-975_5194-974insAAGTGCTA|p.?|5307/7088|5194/5592||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|17/21|c.5053-975_5053-974insAAGTGCTA|p.?|5247/7028|5053/5451||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|18/21|c.1882-975_1882-974insAAGTGCTA|p.?|1989/3696|1882/2100||-974|,CTAGCACTT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|19/23|c.5257-975_5257-974insAAGTGCTA|p.?|5370/7151|5257/5655||-974| GT:AD:DP:GQ 0/0:29:29:87 0/1:23:36:99 0/1:15:32:99 -MT 750 . A G . . . GT:AD:DP:GQ 1/1:0:2757:99 1/1:0:2392:99 1/1:0:1621:99 +MT 750 . A G . . . GT:AD:DP:GQ /1/1:0:2757:99 /1/1:0:2392:99 /1/1:0:1621:99 diff --git a/tests/seqvars/query/Case_1.ingested.vcf b/tests/seqvars/query/Case_1.ingested.vcf index 1a20c31a..6540534f 100644 --- a/tests/seqvars/query/Case_1.ingested.vcf +++ b/tests/seqvars/query/Case_1.ingested.vcf @@ -53,66 +53,66 @@ ##x-varfish-version= ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Case_1_father-N1-DNA1-WGS1 Case_1_index-N1-DNA1-WGS1 Case_1_mother-N1-DNA1-WGS1 -17 41249263 . G A . . gnomad_exomes_an=31398;gnomad_exomes_hom=0;gnomad_exomes_het=56;gnomad_genomes_an=251304;gnomad_genomes_hom=0;gnomad_genomes_het=369;clinvar_clinsig=benign;clinvar_rcv=RCV001353617;ANN=A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|8/23|c.591C>T|p.C197=|704/7088|591/5592|197/1864|44|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/22|c.450C>T|p.C150=|644/7028|450/5451|150/1817|44|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/22|c.591C>T|p.C197=|698/3696|591/2100|197/700|44|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/24|c.591C>T|p.C197=|704/7151|591/5655|197/1885|44| GT:AD:DP:GQ 0/0:52,0:52:99 0/0:46,0:46:99 0/1:21,21:42:99 -17 41252332 . T C . . ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-435A>G|p.?|555/7088|442/5592||-434|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-435A>G|p.?|495/7028|301/5451||-434|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-435A>G|p.?|549/3696|442/2100||-434|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-435A>G|p.?|555/7151|442/5655||-434| GT:AD:DP:GQ 0/0:25,0:25:75 0/1:14,14:28:99 0/1:19,21:40:99 -17 41252691 . ATATAAT A . . gnomad_exomes_an=2368;gnomad_exomes_hom=10;gnomad_exomes_het=80;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-800_442-795delATTATA|p.?|555/7088|442/5592||-794|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-795delATTATA|p.?|495/7028|301/5451||-794|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-795delATTATA|p.?|549/3696|442/2100||-794|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-795delATTATA|p.?|555/7151|442/5655||-794| GT:AD:DP:GQ 0/0:9,0:9:27 0/1:4,10:14:99 0/1:12,11:23:99 -17 41252693 . ATAAT A . . gnomad_exomes_an=3866;gnomad_exomes_hom=244;gnomad_exomes_het=618;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-800_442-797delATTA|p.?|555/7088|442/5592||-796|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-797delATTA|p.?|495/7028|301/5451||-796|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-797delATTA|p.?|549/3696|442/2100||-796|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-797delATTA|p.?|555/7151|442/5655||-796| GT:AD:DP:GQ 0/0:9,0:9:27 0/0:14,0:14:42 0/1:11,11:22:99 -17 41252695 . AAT A . . gnomad_exomes_an=5066;gnomad_exomes_hom=546;gnomad_exomes_het=795;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-800_442-799delAT|p.?|555/7088|442/5592||-798|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-799delAT|p.?|495/7028|301/5451||-798|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-799delAT|p.?|549/3696|442/2100||-798|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-799delAT|p.?|555/7151|442/5655||-798| GT:AD:DP:GQ 0/1:3,6:9:79 0/0:14,0:14:42 0/0:22,0:22:66 -17 41252696 . A T . . gnomad_exomes_an=4200;gnomad_exomes_hom=29;gnomad_exomes_het=334;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-799T>A|p.?|555/7088|442/5592||-798|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-799T>A|p.?|495/7028|301/5451||-798|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-799T>A|p.?|549/3696|442/2100||-798|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-799T>A|p.?|555/7151|442/5655||-798| GT:AD:DP:GQ 0/1:6,3:9:78 0/1:10,4:14:98 0/0:22,0:22:67 -17 41252697 . A AT . . ANN=AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-801_442-800insA|p.?|555/7088|442/5592||-800|,AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-801_301-800insA|p.?|495/7028|301/5451||-800|,AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-801_442-800insA|p.?|549/3696|442/2100||-800|,AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-801_442-800insA|p.?|555/7151|442/5655||-800| GT:AD:DP:GQ 1/1:0,45:45:99 1/0:16,17:33:99 1/0:22,11:33:99 -17 41252697 . A ATT . . ANN=ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-801_442-800insAA|p.?|555/7088|442/5592||-800|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-801_301-800insAA|p.?|495/7028|301/5451||-800|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-801_442-800insAA|p.?|549/3696|442/2100||-800|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-801_442-800insAA|p.?|555/7151|442/5655||-800| GT:AD:DP:GQ 0/0:45,0:45:99 0/1:17,16:33:99 0/1:12,21:33:99 -17 41254393 . G T . . gnomad_exomes_an=1936;gnomad_exomes_hom=0;gnomad_exomes_het=167;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+1746C>A|p.?|554/7088|441/5592||1745|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1746C>A|p.?|494/7028|300/5451||1745|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1746C>A|p.?|548/3696|441/2100||1745|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1746C>A|p.?|554/7151|441/5655||1745| GT:AD:DP:GQ 0/1:29,8:37:66 ./.:.:.:. 0/0:32,3:35:47 -17 41273700 . C CA . . ANN=CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|2/22|c.80+2333_80+2334insT|p.?|193/7088|80/5592||2333|,CA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2333_-8+2334insT|p.?|187/7028|-8/5451||2333|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2333_80+2334insT|p.?|187/3696|80/2100||2333|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2333_80+2334insT|p.?|193/7151|80/5655||2333| GT:AD:DP:GQ 0/0:14,0:14:42 0/0:6,1:7:10 0/1:5,5:10:65 -MT 73 . A G . . . GT:AD:DP:GQ 0/0:3975,0:3975:99 1/1:0,2871:2871:99 1/1:0,3320:3320:99 -MT 119 . T C . . . GT:AD:DP:GQ 0/0:5417,1:5418:99 1/1:0,4039:4039:99 1/1:1,4112:4113:99 -MT 189 . A G . . . GT:AD:DP:GQ 0/0:3069,0:3069:99 1/1:0,1721:1721:99 1/1:0,2204:2204:99 -MT 195 . T C . . . GT:AD:DP:GQ 0/0:2599,0:2599:99 1/1:0,1592:1592:99 1/1:0,1815:1815:99 -MT 204 . T C . . . GT:AD:DP:GQ 0/0:2180,0:2180:99 1/1:0,1424:1424:99 1/1:0,1304:1304:99 -MT 207 . G A . . . GT:AD:DP:GQ 0/0:2115,0:2115:99 1/1:0,1408:1408:99 1/1:0,1277:1277:99 -MT 263 . A G . . . GT:AD:DP:GQ 1/1:0,1288:1288:99 1/1:0,1204:1204:99 1/1:0,1031:1031:99 -MT 302 . A ACC . . . GT:AD:DP:GQ 0/1:157,687:844:99 0/0:1005,6:1011:99 0/0:800,3:803:99 -MT 310 . T TC . . . GT:AD:DP:GQ 1/1:0,1035:1035:99 1/1:0,1411:1411:99 1/1:1,1090:1091:99 -MT 477 . T C . . . GT:AD:DP:GQ 1/1:4,2129:2133:99 0/0:2266,1:2267:99 0/0:1725,0:1725:99 -MT 709 . G A . . . GT:AD:DP:GQ 0/0:2494,0:2494:99 1/1:0,2186:2186:99 1/1:1,1813:1814:99 -MT 750 . A G . . . GT:AD:DP:GQ 1/1:0,2757:2757:99 1/1:0,2392:2392:99 1/1:0,1621:1621:99 -MT 879 . T C . . . GT:AD:DP:GQ 0/0:2853,0:2853:99 0/0:2784,0:2784:99 0/1:1351,547:1898:99 -MT 1243 . T C . . . GT:AD:DP:GQ 0/0:2674,1:2675:99 1/1:0,2198:2198:99 1/1:0,1655:1655:99 -MT 1438 . A G . . . GT:AD:DP:GQ 1/1:0,3815:3815:99 1/1:0,3653:3653:99 1/1:0,2900:2900:99 -MT 1824 . T C . . . GT:AD:DP:GQ 1/1:0,2668:2668:99 0/0:2409,0:2409:99 0/0:1752,0:1752:99 -MT 2633 . A G . . . GT:AD:DP:GQ 0/0:2535,0:2535:99 0/1:1648,761:2409:99 0/0:2269,0:2269:99 -MT 2706 . A G . . . GT:AD:DP:GQ 0/0:3200,0:3200:99 1/1:0,2847:2847:99 1/1:0,2020:2020:99 -MT 3010 . G A . . . GT:AD:DP:GQ 1/1:0,2841:2841:99 0/0:2385,0:2385:99 0/0:1685,0:1685:99 -MT 3505 . A G . . . GT:AD:DP:GQ 0/0:2580,14:2594:99 1/1:0,2363:2363:99 1/1:0,1664:1664:99 -MT 3784 . T C . . . GT:AD:DP:GQ 0/1:480,2456:2936:99 0/0:2504,0:2504:99 0/0:1991,0:1991:99 -MT 4769 . A G . . . GT:AD:DP:GQ 1/1:0,2689:2689:99 1/1:0,2549:2549:99 1/1:0,2108:2108:99 -MT 5046 . G A . . . GT:AD:DP:GQ 0/0:2876,2:2878:99 1/1:0,2466:2466:99 1/1:0,1661:1661:99 -MT 5460 . G A . . . GT:AD:DP:GQ 0/0:2905,2:2907:99 1/1:0,2759:2759:99 1/1:2,1968:1970:99 -MT 7028 . C T . . . GT:AD:DP:GQ 0/0:2577,3:2580:99 1/1:2,2201:2203:99 1/1:1,1945:1946:99 -MT 7864 . C T . . . GT:AD:DP:GQ 0/0:3588,1:3589:99 1/1:0,3465:3465:99 1/1:0,2746:2746:99 -MT 8170 . A G . . . GT:AD:DP:GQ 0/0:2051,1:2052:99 1/1:0,2257:2257:99 1/1:0,1774:1774:99 -MT 8251 . G A . . . GT:AD:DP:GQ 0/0:2360,0:2360:99 1/1:0,2317:2317:99 1/1:1,1624:1625:99 -MT 8860 . A G . . . GT:AD:DP:GQ 1/1:0,3278:3278:99 1/1:0,3088:3088:99 1/1:0,2241:2241:99 -MT 8994 . G A . . . GT:AD:DP:GQ 0/0:2793,0:2793:99 1/1:0,2368:2368:99 1/1:1,1917:1918:99 -MT 9007 . A G . . . GT:AD:DP:GQ 1/1:0,2959:2959:99 0/0:2442,0:2442:99 0/0:1735,0:1735:99 -MT 9150 . A G . . . GT:AD:DP:GQ 1/1:0,3163:3163:99 0/0:3538,0:3538:99 0/0:2767,0:2767:99 -MT 9380 . G A . . . GT:AD:DP:GQ 1/1:1,3320:3321:99 0/0:3222,0:3222:99 0/0:2547,0:2547:99 -MT 10097 . A G . . . GT:AD:DP:GQ 0/0:2660,0:2660:99 0/1:1680,508:2188:99 0/0:1851,0:1851:99 -MT 11204 . T C . . . GT:AD:DP:GQ 0/0:3168,5:3173:99 1/1:0,2922:2922:99 1/1:0,2418:2418:99 -MT 11674 . C T . . . GT:AD:DP:GQ 0/0:2890,0:2890:99 1/1:0,2666:2666:99 1/1:1,2179:2180:99 -MT 11719 . G A . . . GT:AD:DP:GQ 0/0:3339,2:3341:99 1/1:0,3052:3052:99 1/1:0,2203:2203:99 -MT 11947 . A G . . . GT:AD:DP:GQ 0/0:2579,2:2581:99 1/1:0,2273:2273:99 1/1:0,1804:1804:99 -MT 12414 . T C . . . GT:AD:DP:GQ 0/0:2852,3:2855:99 1/1:1,2545:2546:99 1/1:0,1733:1733:99 -MT 12648 . A G . . . GT:AD:DP:GQ 0/0:1812,1:1813:99 1/1:2,1662:1664:99 1/1:4,1777:1781:99 -MT 12705 . C T . . . GT:AD:DP:GQ 0/0:2359,10:2369:99 1/1:1,2137:2138:99 1/1:1,1621:1622:99 -MT 13406 . G A . . . GT:AD:DP:GQ 0/0:2539,1:2540:99 0/0:2216,0:2216:99 0/1:1224,733:1957:99 -MT 13611 . A G . . . GT:AD:DP:GQ 0/0:3838,2:3840:99 1/1:0,3717:3717:99 1/1:1,2834:2835:99 -MT 13928 . G C . . . GT:AD:DP:GQ 0/0:2947,0:2947:99 1/1:0,2700:2700:99 1/1:0,1880:1880:99 -MT 14148 . A G . . . GT:AD:DP:GQ 0/0:3019,2:3021:99 1/1:0,2820:2820:99 1/1:0,1962:1962:99 -MT 14766 . C T . . . GT:AD:DP:GQ 0/0:3318,3:3321:99 1/1:2,3111:3113:99 1/1:3,2355:2358:99 -MT 15326 . A G . . . GT:AD:DP:GQ 1/1:0,3716:3716:99 1/1:0,3560:3560:99 1/1:0,2690:2690:99 -MT 15884 . G C . . . GT:AD:DP:GQ 0/0:3595,1:3596:99 1/1:0,3167:3167:99 1/1:1,2733:2734:99 -MT 16184 . C T . . . GT:AD:DP:GQ 0/0:1406,1:1407:99 1/1:0,1969:1969:99 1/1:0,1478:1478:99 -MT 16223 . C T . . . GT:AD:DP:GQ 0/0:1405,1:1406:99 1/1:0,2018:2018:99 1/1:0,1472:1472:99 -MT 16263 . T C . . . GT:AD:DP:GQ 1/1:2,1476:1478:99 0/0:1994,0:1994:99 0/0:1475,0:1475:99 -MT 16292 . C T . . . GT:AD:DP:GQ 0/0:1652,0:1652:99 1/1:1,1913:1914:99 1/1:0,1476:1476:99 -MT 16519 . T C . . . GT:AD:DP:GQ 1/1:0,1759:1759:99 1/1:0,4094:4094:99 1/1:0,1744:1744:99 +17 41249263 . G A . . gnomad_exomes_an=31398;gnomad_exomes_hom=0;gnomad_exomes_het=56;gnomad_genomes_an=251304;gnomad_genomes_hom=0;gnomad_genomes_het=369;clinvar_clinsig=benign;clinvar_rcv=RCV001353617;ANN=A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|8/23|c.591C>T|p.C197=|704/7088|591/5592|197/1864|44|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|7/22|c.450C>T|p.C150=|644/7028|450/5451|150/1817|44|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|8/22|c.591C>T|p.C197=|698/3696|591/2100|197/700|44|,A|splice_region_variant&synonymous_variant|MODERATE|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|8/24|c.591C>T|p.C197=|704/7151|591/5655|197/1885|44| GT:AD:DP:GQ /0/0:52,0:52:99 /0/0:46,0:46:99 /0/1:21,21:42:99 +17 41252332 . T C . . ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-435A>G|p.?|555/7088|442/5592||-434|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-435A>G|p.?|495/7028|301/5451||-434|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-435A>G|p.?|549/3696|442/2100||-434|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-435A>G|p.?|555/7151|442/5655||-434| GT:AD:DP:GQ /0/0:25,0:25:75 /0/1:14,14:28:99 /0/1:19,21:40:99 +17 41252691 . ATATAAT A . . gnomad_exomes_an=2368;gnomad_exomes_hom=10;gnomad_exomes_het=80;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-800_442-795delATTATA|p.?|555/7088|442/5592||-794|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-795delATTATA|p.?|495/7028|301/5451||-794|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-795delATTATA|p.?|549/3696|442/2100||-794|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-795delATTATA|p.?|555/7151|442/5655||-794| GT:AD:DP:GQ /0/0:9,0:9:27 /0/1:4,10:14:99 /0/1:12,11:23:99 +17 41252693 . ATAAT A . . gnomad_exomes_an=3866;gnomad_exomes_hom=244;gnomad_exomes_het=618;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-800_442-797delATTA|p.?|555/7088|442/5592||-796|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-797delATTA|p.?|495/7028|301/5451||-796|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-797delATTA|p.?|549/3696|442/2100||-796|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-797delATTA|p.?|555/7151|442/5655||-796| GT:AD:DP:GQ /0/0:9,0:9:27 /0/0:14,0:14:42 /0/1:11,11:22:99 +17 41252695 . AAT A . . gnomad_exomes_an=5066;gnomad_exomes_hom=546;gnomad_exomes_het=795;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-800_442-799delAT|p.?|555/7088|442/5592||-798|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-800_301-799delAT|p.?|495/7028|301/5451||-798|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-800_442-799delAT|p.?|549/3696|442/2100||-798|,A|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-800_442-799delAT|p.?|555/7151|442/5655||-798| GT:AD:DP:GQ /0/1:3,6:9:79 /0/0:14,0:14:42 /0/0:22,0:22:66 +17 41252696 . A T . . gnomad_exomes_an=4200;gnomad_exomes_hom=29;gnomad_exomes_het=334;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-799T>A|p.?|555/7088|442/5592||-798|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-799T>A|p.?|495/7028|301/5451||-798|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-799T>A|p.?|549/3696|442/2100||-798|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-799T>A|p.?|555/7151|442/5655||-798| GT:AD:DP:GQ /0/1:6,3:9:78 /0/1:10,4:14:98 /0/0:22,0:22:67 +17 41252697 . A AT . . ANN=AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-801_442-800insA|p.?|555/7088|442/5592||-800|,AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-801_301-800insA|p.?|495/7028|301/5451||-800|,AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-801_442-800insA|p.?|549/3696|442/2100||-800|,AT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-801_442-800insA|p.?|555/7151|442/5655||-800| GT:AD:DP:GQ /1/1:0,45:45:99 1/0:16,17:33:99 1/0:22,11:33:99 +17 41252697 . A ATT . . ANN=ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.442-801_442-800insAA|p.?|555/7088|442/5592||-800|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.301-801_301-800insAA|p.?|495/7028|301/5451||-800|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.442-801_442-800insAA|p.?|549/3696|442/2100||-800|,ATT|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.442-801_442-800insAA|p.?|555/7151|442/5655||-800| GT:AD:DP:GQ /0/0:45,0:45:99 /0/1:17,16:33:99 /0/1:12,21:33:99 +17 41254393 . G T . . gnomad_exomes_an=1936;gnomad_exomes_hom=0;gnomad_exomes_het=167;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+1746C>A|p.?|554/7088|441/5592||1745|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+1746C>A|p.?|494/7028|300/5451||1745|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+1746C>A|p.?|548/3696|441/2100||1745|,T|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+1746C>A|p.?|554/7151|441/5655||1745| GT:AD:DP:GQ /0/1:29,8:37:66 ./.:.:.:. /0/0:32,3:35:47 +17 41273700 . C CA . . ANN=CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|2/22|c.80+2333_80+2334insT|p.?|193/7088|80/5592||2333|,CA|5_prime_UTR_variant&intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|2/21|c.-8+2333_-8+2334insT|p.?|187/7028|-8/5451||2333|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|2/21|c.80+2333_80+2334insT|p.?|187/3696|80/2100||2333|,CA|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|2/23|c.80+2333_80+2334insT|p.?|193/7151|80/5655||2333| GT:AD:DP:GQ /0/0:14,0:14:42 /0/0:6,1:7:10 /0/1:5,5:10:65 +MT 73 . A G . . . GT:AD:DP:GQ /0/0:3975,0:3975:99 /1/1:0,2871:2871:99 /1/1:0,3320:3320:99 +MT 119 . T C . . . GT:AD:DP:GQ /0/0:5417,1:5418:99 /1/1:0,4039:4039:99 /1/1:1,4112:4113:99 +MT 189 . A G . . . GT:AD:DP:GQ /0/0:3069,0:3069:99 /1/1:0,1721:1721:99 /1/1:0,2204:2204:99 +MT 195 . T C . . . GT:AD:DP:GQ /0/0:2599,0:2599:99 /1/1:0,1592:1592:99 /1/1:0,1815:1815:99 +MT 204 . T C . . . GT:AD:DP:GQ /0/0:2180,0:2180:99 /1/1:0,1424:1424:99 /1/1:0,1304:1304:99 +MT 207 . G A . . . GT:AD:DP:GQ /0/0:2115,0:2115:99 /1/1:0,1408:1408:99 /1/1:0,1277:1277:99 +MT 263 . A G . . . GT:AD:DP:GQ /1/1:0,1288:1288:99 /1/1:0,1204:1204:99 /1/1:0,1031:1031:99 +MT 302 . A ACC . . . GT:AD:DP:GQ /0/1:157,687:844:99 /0/0:1005,6:1011:99 /0/0:800,3:803:99 +MT 310 . T TC . . . GT:AD:DP:GQ /1/1:0,1035:1035:99 /1/1:0,1411:1411:99 /1/1:1,1090:1091:99 +MT 477 . T C . . . GT:AD:DP:GQ /1/1:4,2129:2133:99 /0/0:2266,1:2267:99 /0/0:1725,0:1725:99 +MT 709 . G A . . . GT:AD:DP:GQ /0/0:2494,0:2494:99 /1/1:0,2186:2186:99 /1/1:1,1813:1814:99 +MT 750 . A G . . . GT:AD:DP:GQ /1/1:0,2757:2757:99 /1/1:0,2392:2392:99 /1/1:0,1621:1621:99 +MT 879 . T C . . . GT:AD:DP:GQ /0/0:2853,0:2853:99 /0/0:2784,0:2784:99 /0/1:1351,547:1898:99 +MT 1243 . T C . . . GT:AD:DP:GQ /0/0:2674,1:2675:99 /1/1:0,2198:2198:99 /1/1:0,1655:1655:99 +MT 1438 . A G . . . GT:AD:DP:GQ /1/1:0,3815:3815:99 /1/1:0,3653:3653:99 /1/1:0,2900:2900:99 +MT 1824 . T C . . . GT:AD:DP:GQ /1/1:0,2668:2668:99 /0/0:2409,0:2409:99 /0/0:1752,0:1752:99 +MT 2633 . A G . . . GT:AD:DP:GQ /0/0:2535,0:2535:99 /0/1:1648,761:2409:99 /0/0:2269,0:2269:99 +MT 2706 . A G . . . GT:AD:DP:GQ /0/0:3200,0:3200:99 /1/1:0,2847:2847:99 /1/1:0,2020:2020:99 +MT 3010 . G A . . . GT:AD:DP:GQ /1/1:0,2841:2841:99 /0/0:2385,0:2385:99 /0/0:1685,0:1685:99 +MT 3505 . A G . . . GT:AD:DP:GQ /0/0:2580,14:2594:99 /1/1:0,2363:2363:99 /1/1:0,1664:1664:99 +MT 3784 . T C . . . GT:AD:DP:GQ /0/1:480,2456:2936:99 /0/0:2504,0:2504:99 /0/0:1991,0:1991:99 +MT 4769 . A G . . . GT:AD:DP:GQ /1/1:0,2689:2689:99 /1/1:0,2549:2549:99 /1/1:0,2108:2108:99 +MT 5046 . G A . . . GT:AD:DP:GQ /0/0:2876,2:2878:99 /1/1:0,2466:2466:99 /1/1:0,1661:1661:99 +MT 5460 . G A . . . GT:AD:DP:GQ /0/0:2905,2:2907:99 /1/1:0,2759:2759:99 /1/1:2,1968:1970:99 +MT 7028 . C T . . . GT:AD:DP:GQ /0/0:2577,3:2580:99 /1/1:2,2201:2203:99 /1/1:1,1945:1946:99 +MT 7864 . C T . . . GT:AD:DP:GQ /0/0:3588,1:3589:99 /1/1:0,3465:3465:99 /1/1:0,2746:2746:99 +MT 8170 . A G . . . GT:AD:DP:GQ /0/0:2051,1:2052:99 /1/1:0,2257:2257:99 /1/1:0,1774:1774:99 +MT 8251 . G A . . . GT:AD:DP:GQ /0/0:2360,0:2360:99 /1/1:0,2317:2317:99 /1/1:1,1624:1625:99 +MT 8860 . A G . . . GT:AD:DP:GQ /1/1:0,3278:3278:99 /1/1:0,3088:3088:99 /1/1:0,2241:2241:99 +MT 8994 . G A . . . GT:AD:DP:GQ /0/0:2793,0:2793:99 /1/1:0,2368:2368:99 /1/1:1,1917:1918:99 +MT 9007 . A G . . . GT:AD:DP:GQ /1/1:0,2959:2959:99 /0/0:2442,0:2442:99 /0/0:1735,0:1735:99 +MT 9150 . A G . . . GT:AD:DP:GQ /1/1:0,3163:3163:99 /0/0:3538,0:3538:99 /0/0:2767,0:2767:99 +MT 9380 . G A . . . GT:AD:DP:GQ /1/1:1,3320:3321:99 /0/0:3222,0:3222:99 /0/0:2547,0:2547:99 +MT 10097 . A G . . . GT:AD:DP:GQ /0/0:2660,0:2660:99 /0/1:1680,508:2188:99 /0/0:1851,0:1851:99 +MT 11204 . T C . . . GT:AD:DP:GQ /0/0:3168,5:3173:99 /1/1:0,2922:2922:99 /1/1:0,2418:2418:99 +MT 11674 . C T . . . GT:AD:DP:GQ /0/0:2890,0:2890:99 /1/1:0,2666:2666:99 /1/1:1,2179:2180:99 +MT 11719 . G A . . . GT:AD:DP:GQ /0/0:3339,2:3341:99 /1/1:0,3052:3052:99 /1/1:0,2203:2203:99 +MT 11947 . A G . . . GT:AD:DP:GQ /0/0:2579,2:2581:99 /1/1:0,2273:2273:99 /1/1:0,1804:1804:99 +MT 12414 . T C . . . GT:AD:DP:GQ /0/0:2852,3:2855:99 /1/1:1,2545:2546:99 /1/1:0,1733:1733:99 +MT 12648 . A G . . . GT:AD:DP:GQ /0/0:1812,1:1813:99 /1/1:2,1662:1664:99 /1/1:4,1777:1781:99 +MT 12705 . C T . . . GT:AD:DP:GQ /0/0:2359,10:2369:99 /1/1:1,2137:2138:99 /1/1:1,1621:1622:99 +MT 13406 . G A . . . GT:AD:DP:GQ /0/0:2539,1:2540:99 /0/0:2216,0:2216:99 /0/1:1224,733:1957:99 +MT 13611 . A G . . . GT:AD:DP:GQ /0/0:3838,2:3840:99 /1/1:0,3717:3717:99 /1/1:1,2834:2835:99 +MT 13928 . G C . . . GT:AD:DP:GQ /0/0:2947,0:2947:99 /1/1:0,2700:2700:99 /1/1:0,1880:1880:99 +MT 14148 . A G . . . GT:AD:DP:GQ /0/0:3019,2:3021:99 /1/1:0,2820:2820:99 /1/1:0,1962:1962:99 +MT 14766 . C T . . . GT:AD:DP:GQ /0/0:3318,3:3321:99 /1/1:2,3111:3113:99 /1/1:3,2355:2358:99 +MT 15326 . A G . . . GT:AD:DP:GQ /1/1:0,3716:3716:99 /1/1:0,3560:3560:99 /1/1:0,2690:2690:99 +MT 15884 . G C . . . GT:AD:DP:GQ /0/0:3595,1:3596:99 /1/1:0,3167:3167:99 /1/1:1,2733:2734:99 +MT 16184 . C T . . . GT:AD:DP:GQ /0/0:1406,1:1407:99 /1/1:0,1969:1969:99 /1/1:0,1478:1478:99 +MT 16223 . C T . . . GT:AD:DP:GQ /0/0:1405,1:1406:99 /1/1:0,2018:2018:99 /1/1:0,1472:1472:99 +MT 16263 . T C . . . GT:AD:DP:GQ /1/1:2,1476:1478:99 /0/0:1994,0:1994:99 /0/0:1475,0:1475:99 +MT 16292 . C T . . . GT:AD:DP:GQ /0/0:1652,0:1652:99 /1/1:1,1913:1914:99 /1/1:0,1476:1476:99 +MT 16519 . T C . . . GT:AD:DP:GQ /1/1:0,1759:1759:99 /1/1:0,4094:4094:99 /1/1:0,1744:1744:99 diff --git a/tests/seqvars/query/dragen.ingested.vcf b/tests/seqvars/query/dragen.ingested.vcf index 757d38a3..edf56dd5 100644 --- a/tests/seqvars/query/dragen.ingested.vcf +++ b/tests/seqvars/query/dragen.ingested.vcf @@ -50,4 +50,4 @@ ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT CASE 17 41256074 . CA C . . gnomad_exomes_an=20150;gnomad_exomes_hom=2725;gnomad_exomes_het=5476;gnomad_genomes_an=0;gnomad_genomes_hom=0;gnomad_genomes_het=0;ANN=C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007294.4|Coding|6/22|c.441+64delT|p.?|554/7088|441/5592||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007297.4|Coding|5/21|c.300+64delT|p.?|494/7028|300/5451||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007299.4|Coding|6/21|c.441+64delT|p.?|548/3696|441/2100||63|,C|intron_variant|MODIFIER|BRCA1|HGNC:1100|transcript|NM_007300.4|Coding|6/23|c.441+64delT|p.?|554/7151|441/5655||63| GT:AD:DP:GQ:PS 1|1:0,80:80:99:41256074 -MT 750 . A G . . . GT:AD:DP:GQ 1/1:0,35:35:99 +MT 750 . A G . . . GT:AD:DP:GQ /1/1:0,35:35:99 diff --git a/tests/strucvars/aggregate/oneline.vcf b/tests/strucvars/aggregate/oneline.vcf index 254d96e1..839c1944 100644 --- a/tests/strucvars/aggregate/oneline.vcf +++ b/tests/strucvars/aggregate/oneline.vcf @@ -61,4 +61,4 @@ ##x-varfish-version= ##x-varfish-version= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT index father mother -1 586412 . N . . SVCLAIM=DJ;SVTYPE=DEL;END=586439;SVLEN=28;callers=Delly GT:GQ:pec:pev:src:srv:amq:cn:anc:pc 0/1:59:0:0:11:4:.:.:.:. 0/1:22:0:0:8:2:.:.:.:. 0/1:10:0:0:13:2:.:.:.:. +1 586412 . N . . SVCLAIM=DJ;SVTYPE=DEL;END=586439;SVLEN=28;callers=Delly GT:GQ:pec:pev:src:srv:amq:cn:anc:pc /0/1:59:0:0:11:4:.:.:.:. /0/1:22:0:0:8:2:.:.:.:. /0/1:10:0:0:13:2:.:.:.:. diff --git a/tests/strucvars/query/Case_3.ingested.vcf b/tests/strucvars/query/Case_3.ingested.vcf index da1e4712..3c7a4b93 100644 --- a/tests/strucvars/query/Case_3.ingested.vcf +++ b/tests/strucvars/query/Case_3.ingested.vcf @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:536b6d2cd9415825e1c62c17f9fc91098e46c4b7b975409611b823bc2d808559 -size 448994 +oid sha256:f3eff9776061524f3b63285f054a04b4bb9f81d0a354d7b981b08bcf722d23de +size 455637 diff --git a/tests/strucvars/query/db/annonars/grch37/clinvar b/tests/strucvars/query/db/annonars/grch37/clinvar new file mode 120000 index 00000000..5e84b7ae --- /dev/null +++ b/tests/strucvars/query/db/annonars/grch37/clinvar @@ -0,0 +1 @@ +../../../../../seqvars/ingest/db/grch37/seqvars/clinvar \ No newline at end of file diff --git a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/000016.sst b/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/000016.sst deleted file mode 100644 index e8c7216c..00000000 --- a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/000016.sst +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:c73062de541dbba52d037efd468aee4946e8d65c2660bd13103909ab7122a77d -size 1350 diff --git a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/000018.sst b/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/000018.sst deleted file mode 100644 index 8db3f1c0..00000000 --- a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/000018.sst +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:834ff89b1e521d0649e603aed9fe5d46c7f77d3efb4d0151feef43ac71b001ba -size 100667609 diff --git a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/000020.sst b/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/000020.sst deleted file mode 100644 index 2fb72d7a..00000000 --- a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/000020.sst +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:d2859db907952ee3dd5d1272d89954305f8b93fd51093a3e40328f3afcffa1c3 -size 51476397 diff --git a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/CURRENT b/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/CURRENT deleted file mode 100644 index f8d50486..00000000 --- a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/CURRENT +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:9c283f6e81028b9eb0760d918ee4bc0aa256ed3b926393c1734c760c4bd724fd -size 16 diff --git a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/IDENTITY b/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/IDENTITY deleted file mode 100644 index 51c972cf..00000000 --- a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/IDENTITY +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:2e31d9d0adebdbfbc0c4e0e444543ca4e205007fcc38d21420f065709da264eb -size 36 diff --git a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/LOG b/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/LOG deleted file mode 100644 index 6aa280ea..00000000 --- a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/LOG +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:0b56f46d22840815d2924b05b574ffcb2ca8e30e069b14334e276af30dbc1abc -size 87267 diff --git a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/MANIFEST-000005 b/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/MANIFEST-000005 deleted file mode 100644 index faf543d8..00000000 --- a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/MANIFEST-000005 +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:d763584183e55416be1ed1c2280fae5e8f65fcc43e01e7efefa72e3aeb1ab0cb -size 1002 diff --git a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/OPTIONS-000011 b/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/OPTIONS-000011 deleted file mode 100644 index 522fb070..00000000 --- a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/OPTIONS-000011 +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:7ecbc486d3c30488e9cfb8fb0f13639006c5d05a978cc8271c5cbae80e71f2d9 -size 19613 diff --git a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/OPTIONS-000013 b/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/OPTIONS-000013 deleted file mode 100644 index 522fb070..00000000 --- a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/rocksdb/OPTIONS-000013 +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:7ecbc486d3c30488e9cfb8fb0f13639006c5d05a978cc8271c5cbae80e71f2d9 -size 19613 diff --git a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/spec.yaml b/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/spec.yaml deleted file mode 100644 index 74e40fdc..00000000 --- a/tests/strucvars/query/db/annonars/grch37/clinvar-minimal/spec.yaml +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:2c61e9e1f361cb88d5dad094a5890eea77d7a1800609653cbb42789e49333029 -size 656 diff --git a/tests/strucvars/query/db/annonars/grch38/clinvar b/tests/strucvars/query/db/annonars/grch38/clinvar new file mode 120000 index 00000000..bd76fda2 --- /dev/null +++ b/tests/strucvars/query/db/annonars/grch38/clinvar @@ -0,0 +1 @@ +../../../../../seqvars/ingest/db/grch38/seqvars/clinvar \ No newline at end of file diff --git a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/000016.sst b/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/000016.sst deleted file mode 100644 index e37c58d4..00000000 --- a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/000016.sst +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:f450d6a4a7e10d2872916cfef3afa44eb5c7e16b4fd96db1818c895a45335e56 -size 1350 diff --git a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/000018.sst b/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/000018.sst deleted file mode 100644 index 4b8a5e3e..00000000 --- a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/000018.sst +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:d31b7f23cdf9c9f07f6ddd93490dc2efa6f1113f26d6833489a98a8c5f69ec85 -size 100958472 diff --git a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/000020.sst b/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/000020.sst deleted file mode 100644 index 82e7628c..00000000 --- a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/000020.sst +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:48a1ec81b7818ae1f2bc50750a73e3981cf9cd98d4c468721fc0db98c59bbe44 -size 51269960 diff --git a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/CURRENT b/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/CURRENT deleted file mode 100644 index f8d50486..00000000 --- a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/CURRENT +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:9c283f6e81028b9eb0760d918ee4bc0aa256ed3b926393c1734c760c4bd724fd -size 16 diff --git a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/IDENTITY b/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/IDENTITY deleted file mode 100644 index 66d5c03a..00000000 --- a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/IDENTITY +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:35bd83cc25e177daebb92a736af7734f86e5b3c22f0a54c9afe20983bb4fc492 -size 36 diff --git a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/LOCK b/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/LOCK deleted file mode 100644 index e69de29b..00000000 diff --git a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/LOG b/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/LOG deleted file mode 100644 index 0c0414b8..00000000 --- a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/LOG +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:c19e308be72d7272ab25c21ec9b20250858a83abf7662c6a6d9c634103325581 -size 87269 diff --git a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/MANIFEST-000005 b/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/MANIFEST-000005 deleted file mode 100644 index e8eda1a3..00000000 --- a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/MANIFEST-000005 +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:151b9e4933543d94241ac46cea3ecf60c44e805ccd66dc9eca91d244bb32207b -size 1002 diff --git a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/OPTIONS-000011 b/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/OPTIONS-000011 deleted file mode 100644 index 522fb070..00000000 --- a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/OPTIONS-000011 +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:7ecbc486d3c30488e9cfb8fb0f13639006c5d05a978cc8271c5cbae80e71f2d9 -size 19613 diff --git a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/OPTIONS-000013 b/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/OPTIONS-000013 deleted file mode 100644 index 522fb070..00000000 --- a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/rocksdb/OPTIONS-000013 +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:7ecbc486d3c30488e9cfb8fb0f13639006c5d05a978cc8271c5cbae80e71f2d9 -size 19613 diff --git a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/spec.yaml b/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/spec.yaml deleted file mode 100644 index ca7aa073..00000000 --- a/tests/strucvars/query/db/annonars/grch38/clinvar-minimal/spec.yaml +++ /dev/null @@ -1,3 +0,0 @@ -version https://git-lfs.github.com/spec/v1 -oid sha256:9ff612e0bfcd40ca019382776ec2b2f681107dc07d1d328095d321a7370658b0 -size 656 diff --git a/tests/strucvars/query/db/bootstrap.sh b/tests/strucvars/query/db/bootstrap.sh index 4727dea5..4f9b2c49 100644 --- a/tests/strucvars/query/db/bootstrap.sh +++ b/tests/strucvars/query/db/bootstrap.sh @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:969a4f7c6048cb24ca50f328e62e33b456b28995a6b9907b29e481548015952b -size 10897 +oid sha256:7c0ecd30718828017973a0cd7a1b7ce36e7e126acd59f47ea7340e683d618040 +size 10342