← 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: 3-52634806-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52634806&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52634806,
"ref": "T",
"alt": "C",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001405608.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405607.1",
"protein_id": "NP_001392536.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1704,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7991,
"mane_select": "ENST00000707071.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405607.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000707071.1",
"protein_id": "ENSP00000516722.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1704,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7991,
"mane_select": "NM_001405607.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707071.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000296302.11",
"protein_id": "ENSP00000296302.7",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 1689,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296302.11"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000409114.7",
"protein_id": "ENSP00000386643.3",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 1652,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4959,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409114.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000409057.5",
"protein_id": "ENSP00000386593.1",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 1634,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 4980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409057.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000410007.5",
"protein_id": "ENSP00000386529.1",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 1609,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4830,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 4905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410007.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "ENST00000356770.8",
"protein_id": "ENSP00000349213.4",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 1602,
"cds_start": 1001,
"cds_end": null,
"cds_length": 4809,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 7523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356770.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000409767.5",
"protein_id": "ENSP00000386601.1",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 1597,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4794,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 4849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409767.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000337303.8",
"protein_id": "ENSP00000338302.4",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 1582,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337303.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000394830.7",
"protein_id": "ENSP00000378307.3",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 1582,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394830.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "n.1097A>G",
"hgvs_p": null,
"transcript": "ENST00000412587.5",
"protein_id": "ENSP00000404579.1",
"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": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412587.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.-41A>G",
"hgvs_p": null,
"transcript": "NM_001405608.1",
"protein_id": "NP_001392537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1179,
"cds_start": null,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.-486A>G",
"hgvs_p": null,
"transcript": "NM_001405625.1",
"protein_id": "NP_001392554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1142,
"cds_start": null,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405625.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.-886A>G",
"hgvs_p": null,
"transcript": "NM_001405596.1",
"protein_id": "NP_001392525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": null,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405596.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.-886A>G",
"hgvs_p": null,
"transcript": "NM_001405566.1",
"protein_id": "NP_001392495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 946,
"cds_start": null,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405566.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405601.1",
"protein_id": "NP_001392530.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1704,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 7988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405601.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000875042.1",
"protein_id": "ENSP00000545101.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1704,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 8041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875042.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1124A>G",
"hgvs_p": "p.Tyr375Cys",
"transcript": "NM_001405598.1",
"protein_id": "NP_001392527.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1698,
"cds_start": 1124,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 7973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405598.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405570.1",
"protein_id": "NP_001392499.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1691,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5076,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 7949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405570.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001394867.1",
"protein_id": "NP_001381796.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1689,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 8088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394867.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001394868.1",
"protein_id": "NP_001381797.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1689,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 7943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394868.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001394869.1",
"protein_id": "NP_001381798.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1689,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 8087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394869.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001400470.1",
"protein_id": "NP_001387399.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1689,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400470.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405581.1",
"protein_id": "NP_001392510.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1689,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 7805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405581.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405594.1",
"protein_id": "NP_001392523.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1689,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 8085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405594.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405603.1",
"protein_id": "NP_001392532.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1689,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 8147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405603.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405567.1",
"protein_id": "NP_001392496.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1688,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 8085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405567.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405589.1",
"protein_id": "NP_001392518.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1688,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405589.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405629.1",
"protein_id": "NP_001392558.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1688,
"cds_start": 1097,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 7939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405629.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1199A>G",
"hgvs_p": "p.Tyr400Cys",
"transcript": "NM_001405552.1",
"protein_id": "NP_001392481.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1671,
"cds_start": 1199,
"cds_end": null,
"cds_length": 5016,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 8097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405552.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1205A>G",
"hgvs_p": "p.Tyr402Cys",
"transcript": "NM_001405554.1",
"protein_id": "NP_001392483.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 1669,
"cds_start": 1205,
"cds_end": null,
"cds_length": 5010,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 7886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405554.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405559.1",
"protein_id": "NP_001392488.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1664,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4995,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405559.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405588.1",
"protein_id": "NP_001392517.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1664,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4995,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 8010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405588.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405639.1",
"protein_id": "NP_001392568.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1664,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4995,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 7870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405639.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "NM_001366071.2",
"protein_id": "NP_001353000.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1658,
"cds_start": 1160,
"cds_end": null,
"cds_length": 4977,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 7916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366071.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001405604.1",
"protein_id": "NP_001392533.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 1657,
"cds_start": 1001,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 7850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405604.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "NM_001405553.1",
"protein_id": "NP_001392482.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1655,
"cds_start": 1160,
"cds_end": null,
"cds_length": 4968,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 7907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405553.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "NM_001405622.1",
"protein_id": "NP_001392551.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1655,
"cds_start": 1160,
"cds_end": null,
"cds_length": 4968,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 8048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405622.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Tyr384Cys",
"transcript": "NM_001394870.1",
"protein_id": "NP_001381799.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1652,
"cds_start": 1151,
"cds_end": null,
"cds_length": 4959,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 7898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394870.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001400471.1",
"protein_id": "NP_001387400.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1652,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4959,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400471.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Tyr384Cys",
"transcript": "NM_001405600.1",
"protein_id": "NP_001392529.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1652,
"cds_start": 1151,
"cds_end": null,
"cds_length": 4959,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 8099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405600.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Tyr384Cys",
"transcript": "NM_001405574.1",
"protein_id": "NP_001392503.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1651,
"cds_start": 1151,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 7895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405574.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405571.1",
"protein_id": "NP_001392500.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1649,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405571.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000923717.1",
"protein_id": "ENSP00000593776.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1649,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 7812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923717.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1124A>G",
"hgvs_p": "p.Tyr375Cys",
"transcript": "NM_001405568.1",
"protein_id": "NP_001392497.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1643,
"cds_start": 1124,
"cds_end": null,
"cds_length": 4932,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 7808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405568.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1124A>G",
"hgvs_p": "p.Tyr375Cys",
"transcript": "ENST00000923719.1",
"protein_id": "ENSP00000593778.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1643,
"cds_start": 1124,
"cds_end": null,
"cds_length": 4932,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 7715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923719.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1124A>G",
"hgvs_p": "p.Tyr375Cys",
"transcript": "NM_001405569.1",
"protein_id": "NP_001392498.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1642,
"cds_start": 1124,
"cds_end": null,
"cds_length": 4929,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 7805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405569.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001400472.1",
"protein_id": "NP_001387401.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1641,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4926,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400472.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1115A>G",
"hgvs_p": "p.Tyr372Cys",
"transcript": "NM_001405637.1",
"protein_id": "NP_001392566.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 1640,
"cds_start": 1115,
"cds_end": null,
"cds_length": 4923,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 7989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405637.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001394871.1",
"protein_id": "NP_001381800.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1637,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394871.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405583.1",
"protein_id": "NP_001392512.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1637,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 7991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405583.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405584.1",
"protein_id": "NP_001392513.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1637,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 7787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405584.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405641.1",
"protein_id": "NP_001392570.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1637,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 7931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405641.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405643.1",
"protein_id": "NP_001392572.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1637,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 7789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405643.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000966403.1",
"protein_id": "ENSP00000636462.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1637,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 8745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966403.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001400473.1",
"protein_id": "NP_001387402.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1636,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4911,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 7784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400473.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405579.1",
"protein_id": "NP_001392508.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1636,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4911,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 7929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405579.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001350075.2",
"protein_id": "NP_001337004.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1634,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350075.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001394872.1",
"protein_id": "NP_001381801.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1634,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 7778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394872.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001400474.1",
"protein_id": "NP_001387403.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1634,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 7919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400474.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001400475.1",
"protein_id": "NP_001387404.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1634,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 7920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400475.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001400479.1",
"protein_id": "NP_001387408.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1634,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 7923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400479.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405556.1",
"protein_id": "NP_001392485.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1634,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 7640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405556.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405557.1",
"protein_id": "NP_001392486.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1634,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 7982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405557.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405623.1",
"protein_id": "NP_001392552.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1634,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 7891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405623.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405628.1",
"protein_id": "NP_001392557.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1634,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 7780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405628.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405630.1",
"protein_id": "NP_001392559.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1634,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 7922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405630.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405631.1",
"protein_id": "NP_001392560.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1634,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 7777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405631.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001394873.1",
"protein_id": "NP_001381802.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1633,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4902,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394873.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001394874.1",
"protein_id": "NP_001381803.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1633,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4902,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 7772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394874.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001400481.1",
"protein_id": "NP_001387410.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1633,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4902,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 7777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400481.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405561.1",
"protein_id": "NP_001392490.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1633,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4902,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 7979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405561.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405575.1",
"protein_id": "NP_001392504.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1633,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4902,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 7917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405575.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405578.1",
"protein_id": "NP_001392507.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1633,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4902,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 7775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405578.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405585.1",
"protein_id": "NP_001392514.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1633,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4902,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 7637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405585.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405590.1",
"protein_id": "NP_001392519.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1633,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4902,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 7920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405590.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405632.1",
"protein_id": "NP_001392561.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1633,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4902,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 7916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405632.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "ENST00000923721.1",
"protein_id": "ENSP00000593780.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 1632,
"cds_start": 1001,
"cds_end": null,
"cds_length": 4899,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 5275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923721.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Tyr384Cys",
"transcript": "NM_001405591.1",
"protein_id": "NP_001392520.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1627,
"cds_start": 1151,
"cds_end": null,
"cds_length": 4884,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 7823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405591.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "NM_001350074.2",
"protein_id": "NP_001337003.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1618,
"cds_start": 1160,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 7937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350074.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "NM_001350078.2",
"protein_id": "NP_001337007.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1618,
"cds_start": 1160,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 7938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350078.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "NM_001366070.2",
"protein_id": "NP_001352999.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1618,
"cds_start": 1160,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 7796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366070.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "NM_001350076.2",
"protein_id": "NP_001337005.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1617,
"cds_start": 1160,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 7935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350076.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1124A>G",
"hgvs_p": "p.Tyr375Cys",
"transcript": "NM_001405586.1",
"protein_id": "NP_001392515.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1617,
"cds_start": 1124,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 7727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405586.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Tyr384Cys",
"transcript": "NM_001350077.2",
"protein_id": "NP_001337006.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1615,
"cds_start": 1151,
"cds_end": null,
"cds_length": 4848,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350077.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000966405.1",
"protein_id": "ENSP00000636464.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1612,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 7752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966405.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1028A>G",
"hgvs_p": "p.Tyr343Cys",
"transcript": "NM_001405595.1",
"protein_id": "NP_001392524.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1611,
"cds_start": 1028,
"cds_end": null,
"cds_length": 4836,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 7712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405595.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001400484.1",
"protein_id": "NP_001387413.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1609,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4830,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400484.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405558.1",
"protein_id": "NP_001392487.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1609,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4830,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 7848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405558.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405565.1",
"protein_id": "NP_001392494.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1609,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4830,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 7703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405565.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405633.1",
"protein_id": "NP_001392562.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1609,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4830,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 7705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405633.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405635.1",
"protein_id": "NP_001392564.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1609,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4830,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 7847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405635.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "NM_001366072.2",
"protein_id": "NP_001353001.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1603,
"cds_start": 1160,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 7751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366072.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001400487.1",
"protein_id": "NP_001387416.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 1602,
"cds_start": 1001,
"cds_end": null,
"cds_length": 4809,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 7824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400487.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001405582.1",
"protein_id": "NP_001392511.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 1602,
"cds_start": 1001,
"cds_end": null,
"cds_length": 4809,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 7682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405582.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001405599.1",
"protein_id": "NP_001392528.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 1602,
"cds_start": 1001,
"cds_end": null,
"cds_length": 4809,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 7685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405599.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001405606.1",
"protein_id": "NP_001392535.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 1602,
"cds_start": 1001,
"cds_end": null,
"cds_length": 4809,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 7827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405606.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001405638.1",
"protein_id": "NP_001392567.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 1602,
"cds_start": 1001,
"cds_end": null,
"cds_length": 4809,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 7826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405638.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Tyr384Cys",
"transcript": "NM_001366073.2",
"protein_id": "NP_001353002.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1600,
"cds_start": 1151,
"cds_end": null,
"cds_length": 4803,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 7742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366073.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1148A>G",
"hgvs_p": "p.Tyr383Cys",
"transcript": "NM_001366074.2",
"protein_id": "NP_001353003.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 1599,
"cds_start": 1148,
"cds_end": null,
"cds_length": 4800,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 7881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366074.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Tyr327Cys",
"transcript": "NM_001405597.1",
"protein_id": "NP_001392526.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 1595,
"cds_start": 980,
"cds_end": null,
"cds_length": 4788,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 7664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405597.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "NM_001366075.2",
"protein_id": "NP_001353004.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1593,
"cds_start": 1160,
"cds_end": null,
"cds_length": 4782,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 7721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366075.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1124A>G",
"hgvs_p": "p.Tyr375Cys",
"transcript": "NM_001405564.1",
"protein_id": "NP_001392493.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1591,
"cds_start": 1124,
"cds_end": null,
"cds_length": 4776,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 7791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405564.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1124A>G",
"hgvs_p": "p.Tyr375Cys",
"transcript": "NM_001405636.1",
"protein_id": "NP_001392565.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1591,
"cds_start": 1124,
"cds_end": null,
"cds_length": 4776,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 7651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405636.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1124A>G",
"hgvs_p": "p.Tyr375Cys",
"transcript": "ENST00000923720.1",
"protein_id": "ENSP00000593779.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1591,
"cds_start": 1124,
"cds_end": null,
"cds_length": 4776,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 7540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923720.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.953A>G",
"hgvs_p": "p.Tyr318Cys",
"transcript": "NM_001405587.1",
"protein_id": "NP_001392516.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 1586,
"cds_start": 953,
"cds_end": null,
"cds_length": 4761,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 7637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405587.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "NM_001366076.2",
"protein_id": "NP_001353005.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1583,
"cds_start": 1055,
"cds_end": null,
"cds_length": 4752,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 7691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366076.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405609.1",
"protein_id": "NP_001392538.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1583,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4752,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 5181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405609.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001394875.1",
"protein_id": "NP_001381804.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1582,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 7622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394875.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001400496.1",
"protein_id": "NP_001387425.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1582,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400496.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001400500.1",
"protein_id": "NP_001387429.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1582,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 7766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400500.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001400501.1",
"protein_id": "NP_001387430.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1582,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 7767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400501.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405555.1",
"protein_id": "NP_001392484.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1582,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 7484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405555.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405577.1",
"protein_id": "NP_001392506.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1582,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 7826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405577.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405593.1",
"protein_id": "NP_001392522.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1582,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 7823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405593.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405626.1",
"protein_id": "NP_001392555.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1582,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 7825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405626.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405627.1",
"protein_id": "NP_001392556.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1582,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 7624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405627.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405640.1",
"protein_id": "NP_001392569.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1582,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 7822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405640.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_018313.5",
"protein_id": "NP_060783.3",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1582,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 7622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018313.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_181042.5",
"protein_id": "NP_851385.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1582,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 7764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181042.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001394876.1",
"protein_id": "NP_001381805.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1581,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 7764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394876.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001394877.1",
"protein_id": "NP_001381806.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1581,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394877.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405563.1",
"protein_id": "NP_001392492.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1581,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 7619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405563.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405624.1",
"protein_id": "NP_001392553.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1581,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 7621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405624.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000923718.1",
"protein_id": "ENSP00000593777.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1581,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 7607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923718.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "NM_001350079.2",
"protein_id": "NP_001337008.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1578,
"cds_start": 1160,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 7818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350079.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001405572.1",
"protein_id": "NP_001392501.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 1576,
"cds_start": 1001,
"cds_end": null,
"cds_length": 4731,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 7604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405572.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000875043.1",
"protein_id": "ENSP00000545102.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1572,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 7262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875043.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.911A>G",
"hgvs_p": "p.Tyr304Cys",
"transcript": "NM_001405573.1",
"protein_id": "NP_001392502.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 1571,
"cds_start": 911,
"cds_end": null,
"cds_length": 4716,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 7589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405573.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000966404.1",
"protein_id": "ENSP00000636463.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1571,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4716,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 7754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966404.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1124A>G",
"hgvs_p": "p.Tyr375Cys",
"transcript": "NM_001405580.1",
"protein_id": "NP_001392509.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1564,
"cds_start": 1124,
"cds_end": null,
"cds_length": 4695,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 7571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405580.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001400490.1",
"protein_id": "NP_001387419.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1557,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4674,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 7692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400490.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001400504.1",
"protein_id": "NP_001387433.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1557,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4674,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400504.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405592.1",
"protein_id": "NP_001392521.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1557,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4674,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 7689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405592.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405605.1",
"protein_id": "NP_001392534.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1557,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4674,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 7547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405605.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405634.1",
"protein_id": "NP_001392563.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1557,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4674,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 7691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405634.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000923715.1",
"protein_id": "ENSP00000593774.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1557,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4674,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 7554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923715.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405576.1",
"protein_id": "NP_001392505.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1556,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4671,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405576.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Tyr333Cys",
"transcript": "NM_001405560.1",
"protein_id": "NP_001392489.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 1549,
"cds_start": 998,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 7526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405560.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001405602.1",
"protein_id": "NP_001392531.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 1549,
"cds_start": 1001,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 7526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405602.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Tyr333Cys",
"transcript": "NM_001405642.1",
"protein_id": "NP_001392571.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 1549,
"cds_start": 998,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 7525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405642.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1061A>G",
"hgvs_p": "p.Tyr354Cys",
"transcript": "NM_001394878.1",
"protein_id": "NP_001381807.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1519,
"cds_start": 1061,
"cds_end": null,
"cds_length": 4560,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 5055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394878.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "ENST00000423351.5",
"protein_id": "ENSP00000387775.1",
"transcript_support_level": 5,
"aa_start": 366,
"aa_end": null,
"aa_length": 1459,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4382,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 4385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423351.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "NM_001394879.1",
"protein_id": "NP_001381808.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 1457,
"cds_start": 1001,
"cds_end": null,
"cds_length": 4374,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394879.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405610.1",
"protein_id": "NP_001392539.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1431,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4296,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405610.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405611.1",
"protein_id": "NP_001392540.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1405,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405611.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "NM_001405612.1",
"protein_id": "NP_001392541.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1132,
"cds_start": 1097,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405612.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.929A>G",
"hgvs_p": "p.Tyr310Cys",
"transcript": "ENST00000446103.5",
"protein_id": "ENSP00000397662.1",
"transcript_support_level": 2,
"aa_start": 310,
"aa_end": null,
"aa_length": 1084,
"cds_start": 929,
"cds_end": null,
"cds_length": 3256,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446103.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1187A>G",
"hgvs_p": "p.Tyr396Cys",
"transcript": "XM_017006725.2",
"protein_id": "XP_016862214.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1734,
"cds_start": 1187,
"cds_end": null,
"cds_length": 5205,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 8286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006725.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1187A>G",
"hgvs_p": "p.Tyr396Cys",
"transcript": "XM_017006726.2",
"protein_id": "XP_016862215.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1734,
"cds_start": 1187,
"cds_end": null,
"cds_length": 5205,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 8344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006726.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1187A>G",
"hgvs_p": "p.Tyr396Cys",
"transcript": "XM_017006727.2",
"protein_id": "XP_016862216.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1734,
"cds_start": 1187,
"cds_end": null,
"cds_length": 5205,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 8345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006727.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1187A>G",
"hgvs_p": "p.Tyr396Cys",
"transcript": "XM_017006728.2",
"protein_id": "XP_016862217.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1734,
"cds_start": 1187,
"cds_end": null,
"cds_length": 5205,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 8285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006728.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1187A>G",
"hgvs_p": "p.Tyr396Cys",
"transcript": "XM_047448442.1",
"protein_id": "XP_047304398.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1734,
"cds_start": 1187,
"cds_end": null,
"cds_length": 5205,
"cdna_start": 4253,
"cdna_end": null,
"cdna_length": 10967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448442.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1187A>G",
"hgvs_p": "p.Tyr396Cys",
"transcript": "XM_047448443.1",
"protein_id": "XP_047304399.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1733,
"cds_start": 1187,
"cds_end": null,
"cds_length": 5202,
"cdna_start": 4253,
"cdna_end": null,
"cdna_length": 10964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448443.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1178A>G",
"hgvs_p": "p.Tyr393Cys",
"transcript": "XM_017006730.2",
"protein_id": "XP_016862219.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1731,
"cds_start": 1178,
"cds_end": null,
"cds_length": 5196,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 8336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006730.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1178A>G",
"hgvs_p": "p.Tyr393Cys",
"transcript": "XM_017006731.2",
"protein_id": "XP_016862220.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 1731,
"cds_start": 1178,
"cds_end": null,
"cds_length": 5196,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 8276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006731.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1175A>G",
"hgvs_p": "p.Tyr392Cys",
"transcript": "XM_047448444.1",
"protein_id": "XP_047304400.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 1730,
"cds_start": 1175,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 4241,
"cdna_end": null,
"cdna_length": 10955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448444.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1175A>G",
"hgvs_p": "p.Tyr392Cys",
"transcript": "XM_047448445.1",
"protein_id": "XP_047304401.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 1730,
"cds_start": 1175,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 8274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448445.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "XM_011533900.4",
"protein_id": "XP_011532202.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1725,
"cds_start": 1160,
"cds_end": null,
"cds_length": 5178,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 8317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533900.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "XM_011533902.4",
"protein_id": "XP_011532204.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1725,
"cds_start": 1160,
"cds_end": null,
"cds_length": 5178,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 8259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533902.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "XM_011533903.4",
"protein_id": "XP_011532205.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1725,
"cds_start": 1160,
"cds_end": null,
"cds_length": 5178,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 8258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533903.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "XM_047448446.1",
"protein_id": "XP_047304402.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1725,
"cds_start": 1160,
"cds_end": null,
"cds_length": 5178,
"cdna_start": 4226,
"cdna_end": null,
"cdna_length": 10940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448446.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "XM_047448447.1",
"protein_id": "XP_047304403.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1725,
"cds_start": 1160,
"cds_end": null,
"cds_length": 5178,
"cdna_start": 1604,
"cdna_end": null,
"cdna_length": 8318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448447.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "XM_047448448.1",
"protein_id": "XP_047304404.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1724,
"cds_start": 1160,
"cds_end": null,
"cds_length": 5175,
"cdna_start": 4226,
"cdna_end": null,
"cdna_length": 10937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448448.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Tyr384Cys",
"transcript": "XM_024453619.2",
"protein_id": "XP_024309387.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1722,
"cds_start": 1151,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 8250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453619.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1148A>G",
"hgvs_p": "p.Tyr383Cys",
"transcript": "XM_017006734.3",
"protein_id": "XP_016862223.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 1721,
"cds_start": 1148,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 8247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006734.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1124A>G",
"hgvs_p": "p.Tyr375Cys",
"transcript": "XM_047448449.1",
"protein_id": "XP_047304405.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 1713,
"cds_start": 1124,
"cds_end": null,
"cds_length": 5142,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 8018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448449.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "XM_017006741.3",
"protein_id": "XP_016862230.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1710,
"cds_start": 1160,
"cds_end": null,
"cds_length": 5133,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 8214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006741.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "XM_017006742.2",
"protein_id": "XP_016862231.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1710,
"cds_start": 1160,
"cds_end": null,
"cds_length": 5133,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 8213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006742.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1187A>G",
"hgvs_p": "p.Tyr396Cys",
"transcript": "XM_047448450.1",
"protein_id": "XP_047304406.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1709,
"cds_start": 1187,
"cds_end": null,
"cds_length": 5130,
"cdna_start": 4253,
"cdna_end": null,
"cdna_length": 10892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448450.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1187A>G",
"hgvs_p": "p.Tyr396Cys",
"transcript": "XM_047448451.1",
"protein_id": "XP_047304407.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1708,
"cds_start": 1187,
"cds_end": null,
"cds_length": 5127,
"cdna_start": 4253,
"cdna_end": null,
"cdna_length": 10889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448451.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Tyr384Cys",
"transcript": "XM_017006744.2",
"protein_id": "XP_016862233.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1707,
"cds_start": 1151,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 8205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006744.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Tyr384Cys",
"transcript": "XM_047448452.1",
"protein_id": "XP_047304408.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1707,
"cds_start": 1151,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 8204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448452.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Tyr384Cys",
"transcript": "XM_047448453.1",
"protein_id": "XP_047304409.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 1706,
"cds_start": 1151,
"cds_end": null,
"cds_length": 5121,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 8201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448453.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1148A>G",
"hgvs_p": "p.Tyr383Cys",
"transcript": "XM_047448454.1",
"protein_id": "XP_047304410.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 1706,
"cds_start": 1148,
"cds_end": null,
"cds_length": 5121,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 8260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448454.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1148A>G",
"hgvs_p": "p.Tyr383Cys",
"transcript": "XM_047448455.1",
"protein_id": "XP_047304411.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 1706,
"cds_start": 1148,
"cds_end": null,
"cds_length": 5121,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 8261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448455.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1160A>G",
"hgvs_p": "p.Tyr387Cys",
"transcript": "XM_047448456.1",
"protein_id": "XP_047304412.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 1700,
"cds_start": 1160,
"cds_end": null,
"cds_length": 5103,
"cdna_start": 4226,
"cdna_end": null,
"cdna_length": 10865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448456.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1157A>G",
"hgvs_p": "p.Tyr386Cys",
"transcript": "XM_047448457.1",
"protein_id": "XP_047304413.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1699,
"cds_start": 1157,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 8181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448457.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Tyr352Cys",
"transcript": "XM_047448459.1",
"protein_id": "XP_047304415.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1675,
"cds_start": 1055,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 8108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448459.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1001A>G",
"hgvs_p": "p.Tyr334Cys",
"transcript": "XM_047448460.1",
"protein_id": "XP_047304416.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 1672,
"cds_start": 1001,
"cds_end": null,
"cds_length": 5019,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 7895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448460.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.1097A>G",
"hgvs_p": "p.Tyr366Cys",
"transcript": "XM_047448462.1",
"protein_id": "XP_047304418.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1663,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4992,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 7868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448462.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.-41A>G",
"hgvs_p": null,
"transcript": "NM_001405608.1",
"protein_id": "NP_001392537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1179,
"cds_start": null,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.-486A>G",
"hgvs_p": null,
"transcript": "NM_001405625.1",
"protein_id": "NP_001392554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1142,
"cds_start": null,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405625.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.-886A>G",
"hgvs_p": null,
"transcript": "NM_001405596.1",
"protein_id": "NP_001392525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": null,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405596.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.-886A>G",
"hgvs_p": null,
"transcript": "NM_001405566.1",
"protein_id": "NP_001392495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 946,
"cds_start": null,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001405566.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.385-17332A>G",
"hgvs_p": null,
"transcript": "ENST00000923716.1",
"protein_id": "ENSP00000593775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1175,
"cds_start": null,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923716.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "n.1277A>G",
"hgvs_p": null,
"transcript": "NR_174502.1",
"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": 7913,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_174502.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "n.1274A>G",
"hgvs_p": null,
"transcript": "NR_175959.1",
"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": 7955,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_175959.1"
}
],
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"dbsnp": "rs373477703",
"frequency_reference_population": 0.0000663403,
"hom_count_reference_population": 0,
"allele_count_reference_population": 107,
"gnomad_exomes_af": 0.0000670917,
"gnomad_genomes_af": 0.0000591296,
"gnomad_exomes_ac": 98,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.026843369007110596,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.183,
"revel_prediction": "Benign",
"alphamissense_score": 0.2422,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.842,
"phylop100way_prediction": "Uncertain_significance",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001405608.1",
"gene_symbol": "PBRM1",
"hgnc_id": 30064,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-41A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}