← 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: 10-101579577-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101579577&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101579577,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_013274.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val",
"transcript": "NM_001174084.2",
"protein_id": "NP_001167555.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370162.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174084.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val",
"transcript": "ENST00000370162.8",
"protein_id": "ENSP00000359181.3",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001174084.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370162.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val",
"transcript": "ENST00000299206.8",
"protein_id": "ENSP00000299206.4",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299206.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val",
"transcript": "ENST00000370169.5",
"protein_id": "ENSP00000359188.1",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370169.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Ala258Val",
"transcript": "ENST00000339310.7",
"protein_id": "ENSP00000343102.3",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 298,
"cds_start": 773,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339310.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Ala208Val",
"transcript": "ENST00000370168.7",
"protein_id": "ENSP00000359187.3",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 248,
"cds_start": 623,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370168.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "n.2219C>T",
"hgvs_p": null,
"transcript": "ENST00000463515.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463515.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Ala576Val",
"transcript": "ENST00000882366.1",
"protein_id": "ENSP00000552425.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 616,
"cds_start": 1727,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882366.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1625C>T",
"hgvs_p": "p.Ala542Val",
"transcript": "ENST00000882361.1",
"protein_id": "ENSP00000552420.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 582,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882361.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1625C>T",
"hgvs_p": "p.Ala542Val",
"transcript": "ENST00000937314.1",
"protein_id": "ENSP00000607373.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 582,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937314.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1625C>T",
"hgvs_p": "p.Ala542Val",
"transcript": "ENST00000937319.1",
"protein_id": "ENSP00000607378.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 582,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937319.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1625C>T",
"hgvs_p": "p.Ala542Val",
"transcript": "ENST00000942761.1",
"protein_id": "ENSP00000612820.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 582,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942761.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1622C>T",
"hgvs_p": "p.Ala541Val",
"transcript": "ENST00000937307.1",
"protein_id": "ENSP00000607366.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 581,
"cds_start": 1622,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937307.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1622C>T",
"hgvs_p": "p.Ala541Val",
"transcript": "ENST00000937318.1",
"protein_id": "ENSP00000607377.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 581,
"cds_start": 1622,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937318.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val",
"transcript": "NM_013274.4",
"protein_id": "NP_037406.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013274.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val",
"transcript": "ENST00000882356.1",
"protein_id": "ENSP00000552415.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882356.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val",
"transcript": "ENST00000882362.1",
"protein_id": "ENSP00000552421.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882362.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val",
"transcript": "ENST00000882367.1",
"protein_id": "ENSP00000552426.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882367.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val",
"transcript": "ENST00000937306.1",
"protein_id": "ENSP00000607365.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937306.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val",
"transcript": "ENST00000937310.1",
"protein_id": "ENSP00000607369.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937310.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val",
"transcript": "ENST00000937311.1",
"protein_id": "ENSP00000607370.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937311.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Ala534Val",
"transcript": "ENST00000942758.1",
"protein_id": "ENSP00000612817.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 574,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942758.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Ala531Val",
"transcript": "ENST00000882355.1",
"protein_id": "ENSP00000552414.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 571,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882355.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1430C>T",
"hgvs_p": "p.Ala477Val",
"transcript": "ENST00000882357.1",
"protein_id": "ENSP00000552416.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 517,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882357.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1430C>T",
"hgvs_p": "p.Ala477Val",
"transcript": "ENST00000937317.1",
"protein_id": "ENSP00000607376.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 517,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937317.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1430C>T",
"hgvs_p": "p.Ala477Val",
"transcript": "ENST00000937320.1",
"protein_id": "ENSP00000607379.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 517,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937320.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1430C>T",
"hgvs_p": "p.Ala477Val",
"transcript": "ENST00000937322.1",
"protein_id": "ENSP00000607381.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 517,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937322.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1346C>T",
"hgvs_p": "p.Ala449Val",
"transcript": "ENST00000937308.1",
"protein_id": "ENSP00000607367.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 489,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937308.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1340C>T",
"hgvs_p": "p.Ala447Val",
"transcript": "ENST00000370172.5",
"protein_id": "ENSP00000359191.1",
"transcript_support_level": 2,
"aa_start": 447,
"aa_end": null,
"aa_length": 487,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370172.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1340C>T",
"hgvs_p": "p.Ala447Val",
"transcript": "ENST00000882359.1",
"protein_id": "ENSP00000552418.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 487,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882359.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Ala443Val",
"transcript": "NM_001174085.2",
"protein_id": "NP_001167556.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 483,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174085.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Ala443Val",
"transcript": "ENST00000882360.1",
"protein_id": "ENSP00000552419.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 483,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882360.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Ala443Val",
"transcript": "ENST00000882365.1",
"protein_id": "ENSP00000552424.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 483,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882365.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Ala436Val",
"transcript": "ENST00000942762.1",
"protein_id": "ENSP00000612821.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 476,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942762.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Ala434Val",
"transcript": "ENST00000882363.1",
"protein_id": "ENSP00000552422.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 474,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882363.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Ala450Val",
"transcript": "ENST00000415897.5",
"protein_id": "ENSP00000400676.1",
"transcript_support_level": 5,
"aa_start": 450,
"aa_end": null,
"aa_length": 469,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415897.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Ala429Val",
"transcript": "ENST00000882358.1",
"protein_id": "ENSP00000552417.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 469,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882358.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Ala429Val",
"transcript": "ENST00000937312.1",
"protein_id": "ENSP00000607371.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 469,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937312.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Ala429Val",
"transcript": "ENST00000937315.1",
"protein_id": "ENSP00000607374.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 469,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937315.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Ala429Val",
"transcript": "ENST00000942759.1",
"protein_id": "ENSP00000612818.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 469,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942759.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Ala385Val",
"transcript": "ENST00000937305.1",
"protein_id": "ENSP00000607364.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 425,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937305.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Ala385Val",
"transcript": "ENST00000937309.1",
"protein_id": "ENSP00000607368.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 425,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937309.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Ala385Val",
"transcript": "ENST00000937313.1",
"protein_id": "ENSP00000607372.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 425,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937313.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Ala385Val",
"transcript": "ENST00000937316.1",
"protein_id": "ENSP00000607375.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 425,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937316.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Ala371Val",
"transcript": "ENST00000882364.1",
"protein_id": "ENSP00000552423.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 411,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882364.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Ala371Val",
"transcript": "ENST00000937304.1",
"protein_id": "ENSP00000607363.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 411,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937304.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Ala328Val",
"transcript": "ENST00000937321.1",
"protein_id": "ENSP00000607380.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 368,
"cds_start": 983,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937321.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Ala328Val",
"transcript": "ENST00000942760.1",
"protein_id": "ENSP00000612819.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 368,
"cds_start": 983,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942760.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "NM_001308382.2",
"protein_id": "NP_001295311.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 300,
"cds_start": 779,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308382.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "ENST00000628479.2",
"protein_id": "ENSP00000485885.1",
"transcript_support_level": 5,
"aa_start": 260,
"aa_end": null,
"aa_length": 300,
"cds_start": 779,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628479.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1625C>T",
"hgvs_p": "p.Ala542Val",
"transcript": "XM_011539650.2",
"protein_id": "XP_011537952.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 582,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539650.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val",
"transcript": "XM_011539651.2",
"protein_id": "XP_011537953.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 575,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539651.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Ala454Val",
"transcript": "XM_011539657.2",
"protein_id": "XP_011537959.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 494,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539657.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Ala454Val",
"transcript": "XM_024447942.2",
"protein_id": "XP_024303710.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 494,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447942.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Ala454Val",
"transcript": "XM_047425087.1",
"protein_id": "XP_047281043.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 494,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425087.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Ala450Val",
"transcript": "XM_011539654.2",
"protein_id": "XP_011537956.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 490,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539654.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1340C>T",
"hgvs_p": "p.Ala447Val",
"transcript": "XM_024447943.2",
"protein_id": "XP_024303711.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 487,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447943.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1340C>T",
"hgvs_p": "p.Ala447Val",
"transcript": "XM_047425088.1",
"protein_id": "XP_047281044.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 487,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425088.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1328C>T",
"hgvs_p": "p.Ala443Val",
"transcript": "XM_011539655.2",
"protein_id": "XP_011537957.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 483,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539655.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Ala441Val",
"transcript": "XM_017016084.2",
"protein_id": "XP_016871573.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 481,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016084.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1307C>T",
"hgvs_p": "p.Ala436Val",
"transcript": "XM_011539656.2",
"protein_id": "XP_011537958.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 476,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539656.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Ala434Val",
"transcript": "XM_017016085.2",
"protein_id": "XP_016871574.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 474,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016085.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Ala429Val",
"transcript": "XM_047425086.1",
"protein_id": "XP_047281042.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 469,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425086.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Ala373Val",
"transcript": "XM_047425089.1",
"protein_id": "XP_047281045.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 413,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425089.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ala366Val",
"transcript": "XM_017016091.3",
"protein_id": "XP_016871580.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 406,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016091.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1085C>T",
"hgvs_p": "p.Ala362Val",
"transcript": "XM_047425090.1",
"protein_id": "XP_047281046.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 402,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425090.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1064C>T",
"hgvs_p": "p.Ala355Val",
"transcript": "XM_047425091.1",
"protein_id": "XP_047281047.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 395,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425091.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Ala353Val",
"transcript": "XM_047425092.1",
"protein_id": "XP_047281048.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 393,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425092.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1043C>T",
"hgvs_p": "p.Ala348Val",
"transcript": "XM_047425093.1",
"protein_id": "XP_047281049.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 388,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425093.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ala346Val",
"transcript": "XM_047425094.1",
"protein_id": "XP_047281050.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 386,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425094.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.1022C>T",
"hgvs_p": "p.Ala341Val",
"transcript": "XM_047425095.1",
"protein_id": "XP_047281051.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 381,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425095.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.842C>T",
"hgvs_p": "p.Ala281Val",
"transcript": "XM_011539662.3",
"protein_id": "XP_011537964.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 321,
"cds_start": 842,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539662.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"transcript": "XM_006717775.3",
"protein_id": "XP_006717838.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 314,
"cds_start": 821,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717775.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Ala267Val",
"transcript": "XM_011539664.3",
"protein_id": "XP_011537966.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 307,
"cds_start": 800,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539664.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Ala265Val",
"transcript": "XM_047425098.1",
"protein_id": "XP_047281054.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 305,
"cds_start": 794,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425098.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Ala260Val",
"transcript": "XM_006717777.3",
"protein_id": "XP_006717840.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 300,
"cds_start": 779,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717777.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.680C>T",
"hgvs_p": "p.Ala227Val",
"transcript": "XM_024447945.2",
"protein_id": "XP_024303713.2",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 267,
"cds_start": 680,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447945.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.*217C>T",
"hgvs_p": null,
"transcript": "XM_017016088.3",
"protein_id": "XP_016871577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": null,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016088.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.*217C>T",
"hgvs_p": null,
"transcript": "XM_017016090.2",
"protein_id": "XP_016871579.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016090.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "n.1635C>T",
"hgvs_p": null,
"transcript": "NR_033406.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_033406.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "n.191-483G>A",
"hgvs_p": null,
"transcript": "ENST00000470165.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000470165.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "c.*119C>T",
"hgvs_p": null,
"transcript": "ENST00000429502.1",
"protein_id": "ENSP00000406791.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429502.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"hgvs_c": "n.*98C>T",
"hgvs_p": null,
"transcript": "ENST00000485369.5",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485369.5"
}
],
"gene_symbol": "POLL",
"gene_hgnc_id": 9184,
"dbsnp": "rs755652531",
"frequency_reference_population": 0.000048948656,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000513096,
"gnomad_genomes_af": 0.0000262774,
"gnomad_exomes_ac": 75,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21535778045654297,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.1233,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.964,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013274.4",
"gene_symbol": "POLL",
"hgnc_id": 9184,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000470165.1",
"gene_symbol": "DPCD",
"hgnc_id": 24542,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.191-483G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}