← 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: 5-150398368-G-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150398368&ref=G&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150398368,
"ref": "G",
"alt": "GA",
"effect": "frameshift_variant",
"transcript": "NM_001371623.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4368dupA",
"hgvs_p": "p.Glu1457fs",
"transcript": "NM_001371623.1",
"protein_id": "NP_001358552.1",
"transcript_support_level": null,
"aa_start": 1457,
"aa_end": null,
"aa_length": 1489,
"cds_start": 4369,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000643257.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371623.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4368dupA",
"hgvs_p": "p.Glu1457fs",
"transcript": "ENST00000643257.2",
"protein_id": "ENSP00000493815.1",
"transcript_support_level": null,
"aa_start": 1457,
"aa_end": null,
"aa_length": 1489,
"cds_start": 4369,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001371623.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643257.2"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4365dupA",
"hgvs_p": "p.Glu1456fs",
"transcript": "ENST00000504761.6",
"protein_id": "ENSP00000421655.2",
"transcript_support_level": 1,
"aa_start": 1456,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4366,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504761.6"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4134dupA",
"hgvs_p": "p.Glu1379fs",
"transcript": "ENST00000323668.11",
"protein_id": "ENSP00000325223.6",
"transcript_support_level": 1,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1411,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323668.11"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4575dupA",
"hgvs_p": "p.Glu1526fs",
"transcript": "ENST00000930571.1",
"protein_id": "ENSP00000600630.1",
"transcript_support_level": null,
"aa_start": 1526,
"aa_end": null,
"aa_length": 1558,
"cds_start": 4576,
"cds_end": null,
"cds_length": 4677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930571.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4476dupA",
"hgvs_p": "p.Glu1493fs",
"transcript": "ENST00000930555.1",
"protein_id": "ENSP00000600614.1",
"transcript_support_level": null,
"aa_start": 1493,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4477,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930555.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4476dupA",
"hgvs_p": "p.Glu1493fs",
"transcript": "ENST00000930560.1",
"protein_id": "ENSP00000600619.1",
"transcript_support_level": null,
"aa_start": 1493,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4477,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930560.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4473dupA",
"hgvs_p": "p.Glu1492fs",
"transcript": "ENST00000930554.1",
"protein_id": "ENSP00000600613.1",
"transcript_support_level": null,
"aa_start": 1492,
"aa_end": null,
"aa_length": 1524,
"cds_start": 4474,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930554.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4443dupA",
"hgvs_p": "p.Glu1482fs",
"transcript": "ENST00000930565.1",
"protein_id": "ENSP00000600624.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 1514,
"cds_start": 4444,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930565.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4428dupA",
"hgvs_p": "p.Glu1477fs",
"transcript": "ENST00000930570.1",
"protein_id": "ENSP00000600629.1",
"transcript_support_level": null,
"aa_start": 1477,
"aa_end": null,
"aa_length": 1509,
"cds_start": 4429,
"cds_end": null,
"cds_length": 4530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930570.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4425dupA",
"hgvs_p": "p.Glu1476fs",
"transcript": "ENST00000930586.1",
"protein_id": "ENSP00000600645.1",
"transcript_support_level": null,
"aa_start": 1476,
"aa_end": null,
"aa_length": 1508,
"cds_start": 4426,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930586.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4365dupA",
"hgvs_p": "p.Glu1456fs",
"transcript": "NM_001135243.2",
"protein_id": "NP_001128715.1",
"transcript_support_level": null,
"aa_start": 1456,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4366,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135243.2"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4365dupA",
"hgvs_p": "p.Glu1456fs",
"transcript": "ENST00000377797.7",
"protein_id": "ENSP00000367028.4",
"transcript_support_level": 5,
"aa_start": 1456,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4366,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377797.7"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4365dupA",
"hgvs_p": "p.Glu1456fs",
"transcript": "ENST00000513346.5",
"protein_id": "ENSP00000427484.1",
"transcript_support_level": 5,
"aa_start": 1456,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4366,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513346.5"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4368dupA",
"hgvs_p": "p.Glu1457fs",
"transcript": "ENST00000930558.1",
"protein_id": "ENSP00000600617.1",
"transcript_support_level": null,
"aa_start": 1457,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4369,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930558.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4362dupA",
"hgvs_p": "p.Glu1455fs",
"transcript": "ENST00000930544.1",
"protein_id": "ENSP00000600603.1",
"transcript_support_level": null,
"aa_start": 1455,
"aa_end": null,
"aa_length": 1487,
"cds_start": 4363,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930544.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4362dupA",
"hgvs_p": "p.Glu1455fs",
"transcript": "ENST00000930556.1",
"protein_id": "ENSP00000600615.1",
"transcript_support_level": null,
"aa_start": 1455,
"aa_end": null,
"aa_length": 1487,
"cds_start": 4363,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930556.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4368dupA",
"hgvs_p": "p.Glu1457fs",
"transcript": "ENST00000930557.1",
"protein_id": "ENSP00000600616.1",
"transcript_support_level": null,
"aa_start": 1457,
"aa_end": null,
"aa_length": 1487,
"cds_start": 4369,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930557.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4365dupA",
"hgvs_p": "p.Glu1456fs",
"transcript": "ENST00000930575.1",
"protein_id": "ENSP00000600634.1",
"transcript_support_level": null,
"aa_start": 1456,
"aa_end": null,
"aa_length": 1487,
"cds_start": 4366,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930575.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4317dupA",
"hgvs_p": "p.Glu1440fs",
"transcript": "ENST00000930576.1",
"protein_id": "ENSP00000600635.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1472,
"cds_start": 4318,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930576.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4314dupA",
"hgvs_p": "p.Glu1439fs",
"transcript": "ENST00000930562.1",
"protein_id": "ENSP00000600621.1",
"transcript_support_level": null,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1470,
"cds_start": 4315,
"cds_end": null,
"cds_length": 4413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930562.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4299dupA",
"hgvs_p": "p.Glu1434fs",
"transcript": "ENST00000930573.1",
"protein_id": "ENSP00000600632.1",
"transcript_support_level": null,
"aa_start": 1434,
"aa_end": null,
"aa_length": 1466,
"cds_start": 4300,
"cds_end": null,
"cds_length": 4401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930573.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4296dupA",
"hgvs_p": "p.Glu1433fs",
"transcript": "ENST00000930548.1",
"protein_id": "ENSP00000600607.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 1465,
"cds_start": 4297,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930548.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4296dupA",
"hgvs_p": "p.Glu1433fs",
"transcript": "ENST00000930567.1",
"protein_id": "ENSP00000600626.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 1465,
"cds_start": 4297,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930567.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4254dupA",
"hgvs_p": "p.Glu1419fs",
"transcript": "NM_001135244.2",
"protein_id": "NP_001128716.1",
"transcript_support_level": null,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1451,
"cds_start": 4255,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135244.2"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4254dupA",
"hgvs_p": "p.Glu1419fs",
"transcript": "ENST00000439160.6",
"protein_id": "ENSP00000406888.2",
"transcript_support_level": 5,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1451,
"cds_start": 4255,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439160.6"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4251dupA",
"hgvs_p": "p.Glu1418fs",
"transcript": "NM_001195141.2",
"protein_id": "NP_001182070.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4252,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195141.2"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4251dupA",
"hgvs_p": "p.Glu1418fs",
"transcript": "ENST00000427724.7",
"protein_id": "ENSP00000390717.3",
"transcript_support_level": 5,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4252,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427724.7"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4254dupA",
"hgvs_p": "p.Glu1419fs",
"transcript": "ENST00000930553.1",
"protein_id": "ENSP00000600612.1",
"transcript_support_level": null,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4255,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930553.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4248dupA",
"hgvs_p": "p.Glu1417fs",
"transcript": "ENST00000930543.1",
"protein_id": "ENSP00000600602.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1449,
"cds_start": 4249,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930543.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4245dupA",
"hgvs_p": "p.Glu1416fs",
"transcript": "ENST00000930547.1",
"protein_id": "ENSP00000600606.1",
"transcript_support_level": null,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1448,
"cds_start": 4246,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930547.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4242dupA",
"hgvs_p": "p.Glu1415fs",
"transcript": "ENST00000930577.1",
"protein_id": "ENSP00000600636.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1447,
"cds_start": 4243,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930577.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4230dupA",
"hgvs_p": "p.Glu1411fs",
"transcript": "ENST00000930561.1",
"protein_id": "ENSP00000600620.1",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 1443,
"cds_start": 4231,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930561.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4227dupA",
"hgvs_p": "p.Glu1410fs",
"transcript": "ENST00000930578.1",
"protein_id": "ENSP00000600637.1",
"transcript_support_level": null,
"aa_start": 1410,
"aa_end": null,
"aa_length": 1442,
"cds_start": 4228,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930578.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4203dupA",
"hgvs_p": "p.Glu1402fs",
"transcript": "ENST00000930551.1",
"protein_id": "ENSP00000600610.1",
"transcript_support_level": null,
"aa_start": 1402,
"aa_end": null,
"aa_length": 1434,
"cds_start": 4204,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930551.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4188dupA",
"hgvs_p": "p.Glu1397fs",
"transcript": "ENST00000930540.1",
"protein_id": "ENSP00000600599.1",
"transcript_support_level": null,
"aa_start": 1397,
"aa_end": null,
"aa_length": 1429,
"cds_start": 4189,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930540.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4185dupA",
"hgvs_p": "p.Glu1396fs",
"transcript": "ENST00000930559.1",
"protein_id": "ENSP00000600618.1",
"transcript_support_level": null,
"aa_start": 1396,
"aa_end": null,
"aa_length": 1428,
"cds_start": 4186,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930559.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4185dupA",
"hgvs_p": "p.Glu1396fs",
"transcript": "ENST00000930572.1",
"protein_id": "ENSP00000600631.1",
"transcript_support_level": null,
"aa_start": 1396,
"aa_end": null,
"aa_length": 1428,
"cds_start": 4186,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930572.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4155dupA",
"hgvs_p": "p.Glu1386fs",
"transcript": "ENST00000930585.1",
"protein_id": "ENSP00000600644.1",
"transcript_support_level": null,
"aa_start": 1386,
"aa_end": null,
"aa_length": 1418,
"cds_start": 4156,
"cds_end": null,
"cds_length": 4257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930585.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4137dupA",
"hgvs_p": "p.Glu1380fs",
"transcript": "NM_001135245.2",
"protein_id": "NP_001128717.1",
"transcript_support_level": null,
"aa_start": 1380,
"aa_end": null,
"aa_length": 1412,
"cds_start": 4138,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135245.2"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4137dupA",
"hgvs_p": "p.Glu1380fs",
"transcript": "ENST00000445265.6",
"protein_id": "ENSP00000409944.2",
"transcript_support_level": 5,
"aa_start": 1380,
"aa_end": null,
"aa_length": 1412,
"cds_start": 4138,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445265.6"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4134dupA",
"hgvs_p": "p.Glu1379fs",
"transcript": "NM_000356.4",
"protein_id": "NP_000347.2",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1411,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000356.4"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4134dupA",
"hgvs_p": "p.Glu1379fs",
"transcript": "NM_001437406.1",
"protein_id": "NP_001424335.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1411,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437406.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4137dupA",
"hgvs_p": "p.Glu1380fs",
"transcript": "ENST00000930580.1",
"protein_id": "ENSP00000600639.1",
"transcript_support_level": null,
"aa_start": 1380,
"aa_end": null,
"aa_length": 1411,
"cds_start": 4138,
"cds_end": null,
"cds_length": 4236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930580.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4134dupA",
"hgvs_p": "p.Glu1379fs",
"transcript": "ENST00000930542.1",
"protein_id": "ENSP00000600601.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930542.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4131dupA",
"hgvs_p": "p.Glu1378fs",
"transcript": "ENST00000930566.1",
"protein_id": "ENSP00000600625.1",
"transcript_support_level": null,
"aa_start": 1378,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4132,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930566.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4086dupA",
"hgvs_p": "p.Glu1363fs",
"transcript": "ENST00000930552.1",
"protein_id": "ENSP00000600611.1",
"transcript_support_level": null,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1395,
"cds_start": 4087,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930552.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4074dupA",
"hgvs_p": "p.Glu1359fs",
"transcript": "ENST00000930564.1",
"protein_id": "ENSP00000600623.1",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 1391,
"cds_start": 4075,
"cds_end": null,
"cds_length": 4176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930564.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4065dupA",
"hgvs_p": "p.Glu1356fs",
"transcript": "ENST00000930568.1",
"protein_id": "ENSP00000600627.1",
"transcript_support_level": null,
"aa_start": 1356,
"aa_end": null,
"aa_length": 1388,
"cds_start": 4066,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930568.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4062dupA",
"hgvs_p": "p.Glu1355fs",
"transcript": "ENST00000930583.1",
"protein_id": "ENSP00000600642.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1387,
"cds_start": 4063,
"cds_end": null,
"cds_length": 4164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930583.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4023dupA",
"hgvs_p": "p.Glu1342fs",
"transcript": "ENST00000930563.1",
"protein_id": "ENSP00000600622.1",
"transcript_support_level": null,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1374,
"cds_start": 4024,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930563.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4020dupA",
"hgvs_p": "p.Glu1341fs",
"transcript": "ENST00000930546.1",
"protein_id": "ENSP00000600605.1",
"transcript_support_level": null,
"aa_start": 1341,
"aa_end": null,
"aa_length": 1373,
"cds_start": 4021,
"cds_end": null,
"cds_length": 4122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930546.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4023dupA",
"hgvs_p": "p.Glu1342fs",
"transcript": "ENST00000650162.1",
"protein_id": "ENSP00000497075.1",
"transcript_support_level": null,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1357,
"cds_start": 4024,
"cds_end": null,
"cds_length": 4076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650162.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3957dupA",
"hgvs_p": "p.Glu1320fs",
"transcript": "ENST00000930541.1",
"protein_id": "ENSP00000600600.1",
"transcript_support_level": null,
"aa_start": 1320,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3958,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930541.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3954dupA",
"hgvs_p": "p.Glu1319fs",
"transcript": "ENST00000930550.1",
"protein_id": "ENSP00000600609.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1351,
"cds_start": 3955,
"cds_end": null,
"cds_length": 4056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930550.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3954dupA",
"hgvs_p": "p.Glu1319fs",
"transcript": "ENST00000930581.1",
"protein_id": "ENSP00000600640.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3955,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930581.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3927dupA",
"hgvs_p": "p.Glu1310fs",
"transcript": "ENST00000930569.1",
"protein_id": "ENSP00000600628.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3928,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930569.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3813dupA",
"hgvs_p": "p.Glu1272fs",
"transcript": "ENST00000930574.1",
"protein_id": "ENSP00000600633.1",
"transcript_support_level": null,
"aa_start": 1272,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3814,
"cds_end": null,
"cds_length": 3915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930574.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3807dupA",
"hgvs_p": "p.Glu1270fs",
"transcript": "ENST00000930545.1",
"protein_id": "ENSP00000600604.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3808,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930545.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3804dupA",
"hgvs_p": "p.Glu1269fs",
"transcript": "ENST00000930549.1",
"protein_id": "ENSP00000600608.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3805,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930549.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3804dupA",
"hgvs_p": "p.Glu1269fs",
"transcript": "ENST00000930579.1",
"protein_id": "ENSP00000600638.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3805,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930579.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3687dupA",
"hgvs_p": "p.Glu1230fs",
"transcript": "ENST00000930584.1",
"protein_id": "ENSP00000600643.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3688,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930584.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3576dupA",
"hgvs_p": "p.Glu1193fs",
"transcript": "ENST00000930582.1",
"protein_id": "ENSP00000600641.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3577,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930582.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.465dupA",
"hgvs_p": "p.Glu156fs",
"transcript": "ENST00000515516.1",
"protein_id": "ENSP00000426471.1",
"transcript_support_level": 5,
"aa_start": 156,
"aa_end": null,
"aa_length": 188,
"cds_start": 466,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515516.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4479dupA",
"hgvs_p": "p.Glu1494fs",
"transcript": "XM_005268502.5",
"protein_id": "XP_005268559.1",
"transcript_support_level": null,
"aa_start": 1494,
"aa_end": null,
"aa_length": 1526,
"cds_start": 4480,
"cds_end": null,
"cds_length": 4581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268502.5"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4476dupA",
"hgvs_p": "p.Glu1493fs",
"transcript": "XM_005268503.5",
"protein_id": "XP_005268560.1",
"transcript_support_level": null,
"aa_start": 1493,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4477,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268503.5"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4476dupA",
"hgvs_p": "p.Glu1493fs",
"transcript": "XM_005268504.5",
"protein_id": "XP_005268561.1",
"transcript_support_level": null,
"aa_start": 1493,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4477,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268504.5"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4473dupA",
"hgvs_p": "p.Glu1492fs",
"transcript": "XM_047417645.1",
"protein_id": "XP_047273601.1",
"transcript_support_level": null,
"aa_start": 1492,
"aa_end": null,
"aa_length": 1524,
"cds_start": 4474,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417645.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4365dupA",
"hgvs_p": "p.Glu1456fs",
"transcript": "XM_005268506.5",
"protein_id": "XP_005268563.1",
"transcript_support_level": null,
"aa_start": 1456,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4366,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268506.5"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4362dupA",
"hgvs_p": "p.Glu1455fs",
"transcript": "XM_017009792.3",
"protein_id": "XP_016865281.1",
"transcript_support_level": null,
"aa_start": 1455,
"aa_end": null,
"aa_length": 1487,
"cds_start": 4363,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009792.3"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4362dupA",
"hgvs_p": "p.Glu1455fs",
"transcript": "XM_047417646.1",
"protein_id": "XP_047273602.1",
"transcript_support_level": null,
"aa_start": 1455,
"aa_end": null,
"aa_length": 1487,
"cds_start": 4363,
"cds_end": null,
"cds_length": 4464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417646.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4359dupA",
"hgvs_p": "p.Glu1454fs",
"transcript": "XM_047417647.1",
"protein_id": "XP_047273603.1",
"transcript_support_level": null,
"aa_start": 1454,
"aa_end": null,
"aa_length": 1486,
"cds_start": 4360,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417647.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4299dupA",
"hgvs_p": "p.Glu1434fs",
"transcript": "XM_011537678.4",
"protein_id": "XP_011535980.1",
"transcript_support_level": null,
"aa_start": 1434,
"aa_end": null,
"aa_length": 1466,
"cds_start": 4300,
"cds_end": null,
"cds_length": 4401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537678.4"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4296dupA",
"hgvs_p": "p.Glu1433fs",
"transcript": "XM_047417648.1",
"protein_id": "XP_047273604.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 1465,
"cds_start": 4297,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417648.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4296dupA",
"hgvs_p": "p.Glu1433fs",
"transcript": "XM_047417649.1",
"protein_id": "XP_047273605.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 1465,
"cds_start": 4297,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417649.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4293dupA",
"hgvs_p": "p.Glu1432fs",
"transcript": "XM_047417650.1",
"protein_id": "XP_047273606.1",
"transcript_support_level": null,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1464,
"cds_start": 4294,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417650.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4248dupA",
"hgvs_p": "p.Glu1417fs",
"transcript": "XM_005268507.5",
"protein_id": "XP_005268564.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1449,
"cds_start": 4249,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268507.5"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4245dupA",
"hgvs_p": "p.Glu1416fs",
"transcript": "XM_047417651.1",
"protein_id": "XP_047273607.1",
"transcript_support_level": null,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1448,
"cds_start": 4246,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417651.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4245dupA",
"hgvs_p": "p.Glu1416fs",
"transcript": "XM_047417652.1",
"protein_id": "XP_047273608.1",
"transcript_support_level": null,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1448,
"cds_start": 4246,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417652.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4242dupA",
"hgvs_p": "p.Glu1415fs",
"transcript": "XM_047417653.1",
"protein_id": "XP_047273609.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1447,
"cds_start": 4243,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417653.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4188dupA",
"hgvs_p": "p.Glu1397fs",
"transcript": "XM_017009793.3",
"protein_id": "XP_016865282.1",
"transcript_support_level": null,
"aa_start": 1397,
"aa_end": null,
"aa_length": 1429,
"cds_start": 4189,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009793.3"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4185dupA",
"hgvs_p": "p.Glu1396fs",
"transcript": "XM_047417654.1",
"protein_id": "XP_047273610.1",
"transcript_support_level": null,
"aa_start": 1396,
"aa_end": null,
"aa_length": 1428,
"cds_start": 4186,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417654.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4185dupA",
"hgvs_p": "p.Glu1396fs",
"transcript": "XM_047417655.1",
"protein_id": "XP_047273611.1",
"transcript_support_level": null,
"aa_start": 1396,
"aa_end": null,
"aa_length": 1428,
"cds_start": 4186,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417655.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4182dupA",
"hgvs_p": "p.Glu1395fs",
"transcript": "XM_047417656.1",
"protein_id": "XP_047273612.1",
"transcript_support_level": null,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1427,
"cds_start": 4183,
"cds_end": null,
"cds_length": 4284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417656.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4131dupA",
"hgvs_p": "p.Glu1378fs",
"transcript": "XM_047417658.1",
"protein_id": "XP_047273614.1",
"transcript_support_level": null,
"aa_start": 1378,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4132,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417658.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4131dupA",
"hgvs_p": "p.Glu1378fs",
"transcript": "XM_047417659.1",
"protein_id": "XP_047273615.1",
"transcript_support_level": null,
"aa_start": 1378,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4132,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417659.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4128dupA",
"hgvs_p": "p.Glu1377fs",
"transcript": "XM_047417660.1",
"protein_id": "XP_047273616.1",
"transcript_support_level": null,
"aa_start": 1377,
"aa_end": null,
"aa_length": 1409,
"cds_start": 4129,
"cds_end": null,
"cds_length": 4230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417660.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4074dupA",
"hgvs_p": "p.Glu1359fs",
"transcript": "XM_017009794.3",
"protein_id": "XP_016865283.1",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 1391,
"cds_start": 4075,
"cds_end": null,
"cds_length": 4176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009794.3"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4071dupA",
"hgvs_p": "p.Glu1358fs",
"transcript": "XM_047417661.1",
"protein_id": "XP_047273617.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1390,
"cds_start": 4072,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417661.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4068dupA",
"hgvs_p": "p.Glu1357fs",
"transcript": "XM_047417662.1",
"protein_id": "XP_047273618.1",
"transcript_support_level": null,
"aa_start": 1357,
"aa_end": null,
"aa_length": 1389,
"cds_start": 4069,
"cds_end": null,
"cds_length": 4170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417662.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4065dupA",
"hgvs_p": "p.Glu1356fs",
"transcript": "XM_047417663.1",
"protein_id": "XP_047273619.1",
"transcript_support_level": null,
"aa_start": 1356,
"aa_end": null,
"aa_length": 1388,
"cds_start": 4066,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417663.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4023dupA",
"hgvs_p": "p.Glu1342fs",
"transcript": "XM_047417664.1",
"protein_id": "XP_047273620.1",
"transcript_support_level": null,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1374,
"cds_start": 4024,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417664.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4020dupA",
"hgvs_p": "p.Glu1341fs",
"transcript": "XM_047417665.1",
"protein_id": "XP_047273621.1",
"transcript_support_level": null,
"aa_start": 1341,
"aa_end": null,
"aa_length": 1373,
"cds_start": 4021,
"cds_end": null,
"cds_length": 4122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417665.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3957dupA",
"hgvs_p": "p.Glu1320fs",
"transcript": "XM_047417666.1",
"protein_id": "XP_047273622.1",
"transcript_support_level": null,
"aa_start": 1320,
"aa_end": null,
"aa_length": 1352,
"cds_start": 3958,
"cds_end": null,
"cds_length": 4059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417666.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3954dupA",
"hgvs_p": "p.Glu1319fs",
"transcript": "XM_047417667.1",
"protein_id": "XP_047273623.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1351,
"cds_start": 3955,
"cds_end": null,
"cds_length": 4056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417667.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3951dupA",
"hgvs_p": "p.Glu1318fs",
"transcript": "XM_047417668.1",
"protein_id": "XP_047273624.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3952,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417668.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3951dupA",
"hgvs_p": "p.Glu1318fs",
"transcript": "XM_047417669.1",
"protein_id": "XP_047273625.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3952,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417669.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3843dupA",
"hgvs_p": "p.Glu1282fs",
"transcript": "XM_047417670.1",
"protein_id": "XP_047273626.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3844,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417670.1"
},
{
"aa_ref": "E",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.3840dupA",
"hgvs_p": "p.Glu1281fs",
"transcript": "XM_047417671.1",
"protein_id": "XP_047273627.1",
"transcript_support_level": null,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1313,
"cds_start": 3841,
"cds_end": null,
"cds_length": 3942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417671.1"
}
],
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"dbsnp": "rs587776585",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.595,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001371623.1",
"gene_symbol": "TCOF1",
"hgnc_id": 11654,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4368dupA",
"hgvs_p": "p.Glu1457fs"
}
],
"clinvar_disease": "Treacher Collins syndrome 1",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Treacher Collins syndrome 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}