← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-11041390-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11041390&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11041390,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001128849.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4350C>T",
"hgvs_p": "p.Asp1450Asp",
"transcript": "NM_001387283.1",
"protein_id": "NP_001374212.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4350,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4523,
"cdna_end": null,
"cdna_length": 5670,
"mane_select": null,
"mane_plus": "ENST00000646693.2",
"biotype": "protein_coding",
"feature": "NM_001387283.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4350C>T",
"hgvs_p": "p.Asp1450Asp",
"transcript": "ENST00000646693.2",
"protein_id": "ENSP00000495368.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4350,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4523,
"cdna_end": null,
"cdna_length": 5670,
"mane_select": null,
"mane_plus": "NM_001387283.1",
"biotype": "protein_coding",
"feature": "ENST00000646693.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4254C>T",
"hgvs_p": "p.Asp1418Asp",
"transcript": "NM_003072.5",
"protein_id": "NP_003063.2",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4254,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 4430,
"cdna_end": null,
"cdna_length": 5577,
"mane_select": "ENST00000344626.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003072.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4254C>T",
"hgvs_p": "p.Asp1418Asp",
"transcript": "ENST00000344626.10",
"protein_id": "ENSP00000343896.4",
"transcript_support_level": 1,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4254,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 4430,
"cdna_end": null,
"cdna_length": 5577,
"mane_select": "NM_003072.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344626.10"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4260C>T",
"hgvs_p": "p.Asp1420Asp",
"transcript": "ENST00000643549.1",
"protein_id": "ENSP00000493975.1",
"transcript_support_level": null,
"aa_start": 1420,
"aa_end": null,
"aa_length": 1649,
"cds_start": 4260,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 4531,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643549.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asp1388Asp",
"transcript": "ENST00000541122.6",
"protein_id": "ENSP00000445036.2",
"transcript_support_level": 5,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 4449,
"cdna_end": null,
"cdna_length": 5139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541122.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asp1388Asp",
"transcript": "ENST00000643296.1",
"protein_id": "ENSP00000496635.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 4413,
"cdna_end": null,
"cdna_length": 5563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643296.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asp1388Asp",
"transcript": "ENST00000644737.1",
"protein_id": "ENSP00000495548.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 4435,
"cdna_end": null,
"cdna_length": 5777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644737.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asp1388Asp",
"transcript": "ENST00000589677.5",
"protein_id": "ENSP00000464778.1",
"transcript_support_level": 5,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 4494,
"cdna_end": null,
"cdna_length": 5181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589677.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.3675C>T",
"hgvs_p": "p.Asp1225Asp",
"transcript": "ENST00000643995.1",
"protein_id": "ENSP00000496004.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3675,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 3677,
"cdna_end": null,
"cdna_length": 4817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643995.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2907C>T",
"hgvs_p": "p.Asp969Asp",
"transcript": "ENST00000644963.1",
"protein_id": "ENSP00000495599.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1197,
"cds_start": 2907,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 2908,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644963.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2889C>T",
"hgvs_p": "p.Asp963Asp",
"transcript": "ENST00000644065.1",
"protein_id": "ENSP00000493615.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2889,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 2891,
"cdna_end": null,
"cdna_length": 3802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644065.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2748C>T",
"hgvs_p": "p.Asp916Asp",
"transcript": "ENST00000642350.1",
"protein_id": "ENSP00000495355.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1145,
"cds_start": 2748,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 2748,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642350.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2616C>T",
"hgvs_p": "p.Asp872Asp",
"transcript": "ENST00000643857.1",
"protein_id": "ENSP00000494159.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2616,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643857.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.420C>T",
"hgvs_p": "p.Asp140Asp",
"transcript": "ENST00000538456.4",
"protein_id": "ENSP00000495197.1",
"transcript_support_level": 3,
"aa_start": 140,
"aa_end": null,
"aa_length": 335,
"cds_start": 420,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538456.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.2495C>T",
"hgvs_p": null,
"transcript": "ENST00000592604.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000592604.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4350C>T",
"hgvs_p": "p.Asp1450Asp",
"transcript": "NM_001128849.3",
"protein_id": "NP_001122321.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4350,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4526,
"cdna_end": null,
"cdna_length": 5673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128849.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4350C>T",
"hgvs_p": "p.Asp1450Asp",
"transcript": "ENST00000711079.1",
"protein_id": "ENSP00000518564.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4350,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4598,
"cdna_end": null,
"cdna_length": 5745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711079.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4350C>T",
"hgvs_p": "p.Asp1450Asp",
"transcript": "ENST00000896343.1",
"protein_id": "ENSP00000566402.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4350,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4815,
"cdna_end": null,
"cdna_length": 5966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896343.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4350C>T",
"hgvs_p": "p.Asp1450Asp",
"transcript": "ENST00000924728.1",
"protein_id": "ENSP00000594787.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1669,
"cds_start": 4350,
"cds_end": null,
"cds_length": 5010,
"cdna_start": 4554,
"cdna_end": null,
"cdna_length": 5671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924728.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4260C>T",
"hgvs_p": "p.Asp1420Asp",
"transcript": "ENST00000924742.1",
"protein_id": "ENSP00000594801.1",
"transcript_support_level": null,
"aa_start": 1420,
"aa_end": null,
"aa_length": 1649,
"cds_start": 4260,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 4465,
"cdna_end": null,
"cdna_length": 5403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924742.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4260C>T",
"hgvs_p": "p.Asp1420Asp",
"transcript": "ENST00000924719.1",
"protein_id": "ENSP00000594778.1",
"transcript_support_level": null,
"aa_start": 1420,
"aa_end": null,
"aa_length": 1648,
"cds_start": 4260,
"cds_end": null,
"cds_length": 4947,
"cdna_start": 4580,
"cdna_end": null,
"cdna_length": 5728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924719.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4260C>T",
"hgvs_p": "p.Asp1420Asp",
"transcript": "ENST00000924738.1",
"protein_id": "ENSP00000594797.1",
"transcript_support_level": null,
"aa_start": 1420,
"aa_end": null,
"aa_length": 1648,
"cds_start": 4260,
"cds_end": null,
"cds_length": 4947,
"cdna_start": 4405,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924738.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4254C>T",
"hgvs_p": "p.Asp1418Asp",
"transcript": "NM_001128844.3",
"protein_id": "NP_001122316.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4254,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 4506,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128844.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4254C>T",
"hgvs_p": "p.Asp1418Asp",
"transcript": "ENST00000429416.8",
"protein_id": "ENSP00000395654.1",
"transcript_support_level": 2,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4254,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 4535,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429416.8"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4254C>T",
"hgvs_p": "p.Asp1418Asp",
"transcript": "ENST00000924715.1",
"protein_id": "ENSP00000594774.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4254,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 4618,
"cdna_end": null,
"cdna_length": 5771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924715.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4254C>T",
"hgvs_p": "p.Asp1418Asp",
"transcript": "ENST00000924754.1",
"protein_id": "ENSP00000594813.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4254,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 4775,
"cdna_end": null,
"cdna_length": 5720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924754.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4251C>T",
"hgvs_p": "p.Asp1417Asp",
"transcript": "NM_001411150.1",
"protein_id": "NP_001398079.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1646,
"cds_start": 4251,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 4424,
"cdna_end": null,
"cdna_length": 5571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411150.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4251C>T",
"hgvs_p": "p.Asp1417Asp",
"transcript": "ENST00000642628.1",
"protein_id": "ENSP00000496498.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1646,
"cds_start": 4251,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 4500,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642628.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4251C>T",
"hgvs_p": "p.Asp1417Asp",
"transcript": "ENST00000642726.1",
"protein_id": "ENSP00000494353.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1646,
"cds_start": 4251,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 4522,
"cdna_end": null,
"cdna_length": 5675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642726.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4251C>T",
"hgvs_p": "p.Asp1417Asp",
"transcript": "ENST00000924725.1",
"protein_id": "ENSP00000594784.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1646,
"cds_start": 4251,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 4470,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924725.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4251C>T",
"hgvs_p": "p.Asp1417Asp",
"transcript": "ENST00000924741.1",
"protein_id": "ENSP00000594800.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1646,
"cds_start": 4251,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 4474,
"cdna_end": null,
"cdna_length": 5407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924741.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4251C>T",
"hgvs_p": "p.Asp1417Asp",
"transcript": "ENST00000924743.1",
"protein_id": "ENSP00000594802.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1646,
"cds_start": 4251,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 4531,
"cdna_end": null,
"cdna_length": 5462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924743.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4251C>T",
"hgvs_p": "p.Asp1417Asp",
"transcript": "ENST00000924755.1",
"protein_id": "ENSP00000594814.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1646,
"cds_start": 4251,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 4423,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924755.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4251C>T",
"hgvs_p": "p.Asp1417Asp",
"transcript": "ENST00000924756.1",
"protein_id": "ENSP00000594815.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1646,
"cds_start": 4251,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 4442,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924756.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4251C>T",
"hgvs_p": "p.Asp1417Asp",
"transcript": "ENST00000924733.1",
"protein_id": "ENSP00000594792.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4251,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 4445,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924733.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4251C>T",
"hgvs_p": "p.Asp1417Asp",
"transcript": "ENST00000970840.1",
"protein_id": "ENSP00000640899.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4251,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 4427,
"cdna_end": null,
"cdna_length": 5561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970840.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4248C>T",
"hgvs_p": "p.Asp1416Asp",
"transcript": "ENST00000924748.1",
"protein_id": "ENSP00000594807.1",
"transcript_support_level": null,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1644,
"cds_start": 4248,
"cds_end": null,
"cds_length": 4935,
"cdna_start": 4377,
"cdna_end": null,
"cdna_length": 5320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924748.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4254C>T",
"hgvs_p": "p.Asp1418Asp",
"transcript": "ENST00000924750.1",
"protein_id": "ENSP00000594809.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1638,
"cds_start": 4254,
"cds_end": null,
"cds_length": 4917,
"cdna_start": 4458,
"cdna_end": null,
"cdna_length": 5266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924750.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4218C>T",
"hgvs_p": "p.Asp1406Asp",
"transcript": "ENST00000970841.1",
"protein_id": "ENSP00000640900.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1634,
"cds_start": 4218,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 5213,
"cdna_end": null,
"cdna_length": 6156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970841.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4185C>T",
"hgvs_p": "p.Asp1395Asp",
"transcript": "ENST00000924730.1",
"protein_id": "ENSP00000594789.1",
"transcript_support_level": null,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1624,
"cds_start": 4185,
"cds_end": null,
"cds_length": 4875,
"cdna_start": 4384,
"cdna_end": null,
"cdna_length": 5532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924730.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asp1388Asp",
"transcript": "NM_001128845.2",
"protein_id": "NP_001122317.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 4192,
"cdna_end": null,
"cdna_length": 5339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128845.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asp1388Asp",
"transcript": "ENST00000924734.1",
"protein_id": "ENSP00000594793.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 4605,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924734.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asp1388Asp",
"transcript": "ENST00000924749.1",
"protein_id": "ENSP00000594808.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 4622,
"cdna_end": null,
"cdna_length": 5775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924749.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asp1388Asp",
"transcript": "NM_001128846.2",
"protein_id": "NP_001122318.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 4192,
"cdna_end": null,
"cdna_length": 5336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128846.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asp1388Asp",
"transcript": "ENST00000896342.1",
"protein_id": "ENSP00000566401.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 4498,
"cdna_end": null,
"cdna_length": 5666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896342.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asp1388Asp",
"transcript": "ENST00000924718.1",
"protein_id": "ENSP00000594777.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 4484,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924718.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4161C>T",
"hgvs_p": "p.Asp1387Asp",
"transcript": "ENST00000924722.1",
"protein_id": "ENSP00000594781.1",
"transcript_support_level": null,
"aa_start": 1387,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4161,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 4459,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924722.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4161C>T",
"hgvs_p": "p.Asp1387Asp",
"transcript": "ENST00000924732.1",
"protein_id": "ENSP00000594791.1",
"transcript_support_level": null,
"aa_start": 1387,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4161,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 4356,
"cdna_end": null,
"cdna_length": 5503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924732.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asp1388Asp",
"transcript": "ENST00000924751.1",
"protein_id": "ENSP00000594810.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 4607,
"cdna_end": null,
"cdna_length": 5755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924751.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4161C>T",
"hgvs_p": "p.Asp1387Asp",
"transcript": "ENST00000924731.1",
"protein_id": "ENSP00000594790.1",
"transcript_support_level": null,
"aa_start": 1387,
"aa_end": null,
"aa_length": 1615,
"cds_start": 4161,
"cds_end": null,
"cds_length": 4848,
"cdna_start": 4360,
"cdna_end": null,
"cdna_length": 5504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924731.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "NM_001128847.4",
"protein_id": "NP_001122319.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1614,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 4331,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128847.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "NM_001374457.1",
"protein_id": "NP_001361386.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1614,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 4328,
"cdna_end": null,
"cdna_length": 5475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374457.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000590574.6",
"protein_id": "ENSP00000466963.1",
"transcript_support_level": 5,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1614,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 4592,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590574.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000646484.1",
"protein_id": "ENSP00000495536.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1614,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 4426,
"cdna_end": null,
"cdna_length": 5579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646484.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000646510.1",
"protein_id": "ENSP00000494772.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1614,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 4445,
"cdna_end": null,
"cdna_length": 5595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646510.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000647230.1",
"protein_id": "ENSP00000494676.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1614,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 4404,
"cdna_end": null,
"cdna_length": 5554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647230.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000924739.1",
"protein_id": "ENSP00000594798.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1614,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 4639,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924739.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000924746.1",
"protein_id": "ENSP00000594805.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1614,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 4639,
"cdna_end": null,
"cdna_length": 5787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924746.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "NM_001128848.2",
"protein_id": "NP_001122320.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4183,
"cdna_end": null,
"cdna_length": 5327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128848.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000444061.8",
"protein_id": "ENSP00000392837.2",
"transcript_support_level": 5,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4251,
"cdna_end": null,
"cdna_length": 5393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444061.8"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000645460.1",
"protein_id": "ENSP00000494463.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4315,
"cdna_end": null,
"cdna_length": 5457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645460.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4152C>T",
"hgvs_p": "p.Asp1384Asp",
"transcript": "ENST00000924714.1",
"protein_id": "ENSP00000594773.1",
"transcript_support_level": null,
"aa_start": 1384,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4152,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4534,
"cdna_end": null,
"cdna_length": 5686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924714.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000924716.1",
"protein_id": "ENSP00000594775.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4510,
"cdna_end": null,
"cdna_length": 5660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924716.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4152C>T",
"hgvs_p": "p.Asp1384Asp",
"transcript": "ENST00000924721.1",
"protein_id": "ENSP00000594780.1",
"transcript_support_level": null,
"aa_start": 1384,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4152,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4471,
"cdna_end": null,
"cdna_length": 5618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924721.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000924724.1",
"protein_id": "ENSP00000594783.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4545,
"cdna_end": null,
"cdna_length": 5689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924724.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4152C>T",
"hgvs_p": "p.Asp1384Asp",
"transcript": "ENST00000924737.1",
"protein_id": "ENSP00000594796.1",
"transcript_support_level": null,
"aa_start": 1384,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4152,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4310,
"cdna_end": null,
"cdna_length": 5457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924737.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000924740.1",
"protein_id": "ENSP00000594799.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4563,
"cdna_end": null,
"cdna_length": 5491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924740.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000924752.1",
"protein_id": "ENSP00000594811.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4596,
"cdna_end": null,
"cdna_length": 5740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924752.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4152C>T",
"hgvs_p": "p.Asp1384Asp",
"transcript": "ENST00000924723.1",
"protein_id": "ENSP00000594782.1",
"transcript_support_level": null,
"aa_start": 1384,
"aa_end": null,
"aa_length": 1612,
"cds_start": 4152,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 4407,
"cdna_end": null,
"cdna_length": 5552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924723.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4152C>T",
"hgvs_p": "p.Asp1384Asp",
"transcript": "ENST00000924726.1",
"protein_id": "ENSP00000594785.1",
"transcript_support_level": null,
"aa_start": 1384,
"aa_end": null,
"aa_length": 1612,
"cds_start": 4152,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 4358,
"cdna_end": null,
"cdna_length": 5506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924726.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4149C>T",
"hgvs_p": "p.Asp1383Asp",
"transcript": "ENST00000924753.1",
"protein_id": "ENSP00000594812.1",
"transcript_support_level": null,
"aa_start": 1383,
"aa_end": null,
"aa_length": 1612,
"cds_start": 4149,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 4313,
"cdna_end": null,
"cdna_length": 5125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924753.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4149C>T",
"hgvs_p": "p.Asp1383Asp",
"transcript": "ENST00000924744.1",
"protein_id": "ENSP00000594803.1",
"transcript_support_level": null,
"aa_start": 1383,
"aa_end": null,
"aa_length": 1611,
"cds_start": 4149,
"cds_end": null,
"cds_length": 4836,
"cdna_start": 4330,
"cdna_end": null,
"cdna_length": 5270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924744.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000924729.1",
"protein_id": "ENSP00000594788.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1605,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4818,
"cdna_start": 4349,
"cdna_end": null,
"cdna_length": 5473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924729.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000924745.1",
"protein_id": "ENSP00000594804.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1605,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4818,
"cdna_start": 4328,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924745.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4110C>T",
"hgvs_p": "p.Asp1370Asp",
"transcript": "ENST00000924720.1",
"protein_id": "ENSP00000594779.1",
"transcript_support_level": null,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1599,
"cds_start": 4110,
"cds_end": null,
"cds_length": 4800,
"cdna_start": 4433,
"cdna_end": null,
"cdna_length": 5583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924720.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4065C>T",
"hgvs_p": "p.Asp1355Asp",
"transcript": "ENST00000924717.1",
"protein_id": "ENSP00000594776.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1583,
"cds_start": 4065,
"cds_end": null,
"cds_length": 4752,
"cdna_start": 4391,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924717.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4164C>T",
"hgvs_p": "p.Asp1388Asp",
"transcript": "ENST00000924747.1",
"protein_id": "ENSP00000594806.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1582,
"cds_start": 4164,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 4310,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924747.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000924727.1",
"protein_id": "ENSP00000594786.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1580,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 4361,
"cdna_end": null,
"cdna_length": 5410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924727.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "ENST00000924735.1",
"protein_id": "ENSP00000594794.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1579,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4740,
"cdna_start": 4320,
"cdna_end": null,
"cdna_length": 5366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924735.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.3783C>T",
"hgvs_p": "p.Asp1261Asp",
"transcript": "ENST00000924736.1",
"protein_id": "ENSP00000594795.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1490,
"cds_start": 3783,
"cds_end": null,
"cds_length": 4473,
"cdna_start": 3955,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924736.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2811C>T",
"hgvs_p": "p.Asp937Asp",
"transcript": "ENST00000643208.1",
"protein_id": "ENSP00000496074.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2811,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 2811,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643208.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2595C>T",
"hgvs_p": "p.Asp865Asp",
"transcript": "ENST00000646183.1",
"protein_id": "ENSP00000494915.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2595,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 3496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646183.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2553C>T",
"hgvs_p": "p.Asp851Asp",
"transcript": "ENST00000646746.1",
"protein_id": "ENSP00000496331.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2553,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 2554,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646746.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2508C>T",
"hgvs_p": "p.Asp836Asp",
"transcript": "ENST00000647268.1",
"protein_id": "ENSP00000496176.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2508,
"cds_end": null,
"cds_length": 3198,
"cdna_start": 2508,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647268.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.2538C>T",
"hgvs_p": "p.Asp846Asp",
"transcript": "ENST00000643534.1",
"protein_id": "ENSP00000495802.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2538,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2539,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643534.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.1710C>T",
"hgvs_p": "p.Asp570Asp",
"transcript": "ENST00000642508.1",
"protein_id": "ENSP00000494154.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 798,
"cds_start": 1710,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642508.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.801C>T",
"hgvs_p": "p.Asp267Asp",
"transcript": "ENST00000645236.1",
"protein_id": "ENSP00000494603.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 521,
"cds_start": 801,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645236.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Asp127Asp",
"transcript": "ENST00000586985.2",
"protein_id": "ENSP00000467796.2",
"transcript_support_level": 5,
"aa_start": 127,
"aa_end": null,
"aa_length": 348,
"cds_start": 381,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586985.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.195C>T",
"hgvs_p": "p.Asp65Asp",
"transcript": "ENST00000592158.2",
"protein_id": "ENSP00000467200.2",
"transcript_support_level": 2,
"aa_start": 65,
"aa_end": null,
"aa_length": 221,
"cds_start": 195,
"cds_end": null,
"cds_length": 666,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592158.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4350C>T",
"hgvs_p": "p.Asp1450Asp",
"transcript": "XM_006722846.3",
"protein_id": "XP_006722909.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4350,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4798,
"cdna_end": null,
"cdna_length": 5945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722846.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4350C>T",
"hgvs_p": "p.Asp1450Asp",
"transcript": "XM_011528198.2",
"protein_id": "XP_011526500.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4350,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4602,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528198.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4350C>T",
"hgvs_p": "p.Asp1450Asp",
"transcript": "XM_024451658.2",
"protein_id": "XP_024307426.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4350,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4599,
"cdna_end": null,
"cdna_length": 5746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451658.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4350C>T",
"hgvs_p": "p.Asp1450Asp",
"transcript": "XM_047439243.1",
"protein_id": "XP_047295199.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4350,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4801,
"cdna_end": null,
"cdna_length": 5948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439243.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4254C>T",
"hgvs_p": "p.Asp1418Asp",
"transcript": "XM_047439244.1",
"protein_id": "XP_047295200.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4254,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 4427,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439244.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4251C>T",
"hgvs_p": "p.Asp1417Asp",
"transcript": "XM_024451661.2",
"protein_id": "XP_024307429.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1646,
"cds_start": 4251,
"cds_end": null,
"cds_length": 4941,
"cdna_start": 4427,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451661.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4251C>T",
"hgvs_p": "p.Asp1417Asp",
"transcript": "XM_024451663.2",
"protein_id": "XP_024307431.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4251,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 4427,
"cdna_end": null,
"cdna_length": 5571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451663.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4251C>T",
"hgvs_p": "p.Asp1417Asp",
"transcript": "XM_047439246.1",
"protein_id": "XP_047295202.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4251,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 4424,
"cdna_end": null,
"cdna_length": 5568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439246.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "XM_047439247.1",
"protein_id": "XP_047295203.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1614,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 4404,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439247.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "XM_047439248.1",
"protein_id": "XP_047295204.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1614,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 4603,
"cdna_end": null,
"cdna_length": 5750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439248.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "XM_024451667.2",
"protein_id": "XP_024307435.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4331,
"cdna_end": null,
"cdna_length": 5475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451667.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "XM_047439249.1",
"protein_id": "XP_047295205.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4407,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439249.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "XM_047439250.1",
"protein_id": "XP_047295206.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4328,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439250.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "c.4155C>T",
"hgvs_p": "p.Asp1385Asp",
"transcript": "XM_047439251.1",
"protein_id": "XP_047295207.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4155,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4603,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439251.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.2692C>T",
"hgvs_p": null,
"transcript": "ENST00000585799.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3842,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000585799.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.2227C>T",
"hgvs_p": null,
"transcript": "ENST00000591595.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000591595.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.747C>T",
"hgvs_p": null,
"transcript": "ENST00000643929.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000643929.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.2925C>T",
"hgvs_p": null,
"transcript": "ENST00000644327.1",
"protein_id": "ENSP00000493905.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644327.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.2742C>T",
"hgvs_p": null,
"transcript": "ENST00000645061.1",
"protein_id": "ENSP00000493690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4035,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.*1007C>T",
"hgvs_p": null,
"transcript": "ENST00000645648.1",
"protein_id": "ENSP00000493521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645648.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.*1934C>T",
"hgvs_p": null,
"transcript": "ENST00000646593.1",
"protein_id": "ENSP00000494341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646593.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.757C>T",
"hgvs_p": null,
"transcript": "ENST00000646889.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000646889.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.4254C>T",
"hgvs_p": null,
"transcript": "ENST00000704344.1",
"protein_id": "ENSP00000515855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000704344.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.4644C>T",
"hgvs_p": null,
"transcript": "NR_164683.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164683.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.*1007C>T",
"hgvs_p": null,
"transcript": "ENST00000645648.1",
"protein_id": "ENSP00000493521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645648.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.*1934C>T",
"hgvs_p": null,
"transcript": "ENST00000646593.1",
"protein_id": "ENSP00000494341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646593.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"hgvs_c": "n.-49C>T",
"hgvs_p": null,
"transcript": "ENST00000645387.1",
"protein_id": "ENSP00000496135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 627,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645387.1"
}
],
"gene_symbol": "SMARCA4",
"gene_hgnc_id": 11100,
"dbsnp": "rs370380553",
"frequency_reference_population": 0.000014882668,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000102717,
"gnomad_genomes_af": 0.0000590978,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.027000000700354576,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.996,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001128849.3",
"gene_symbol": "SMARCA4",
"hgnc_id": 11100,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.4350C>T",
"hgvs_p": "p.Asp1450Asp"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Rhabdoid tumor predisposition syndrome 2",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Rhabdoid tumor predisposition syndrome 2|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}