← 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: 6-42228526-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=42228526&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 42228526,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001297573.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "NM_001395490.1",
"protein_id": "NP_001382419.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4249,
"cdna_end": null,
"cdna_length": 7844,
"mane_select": "ENST00000695948.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395490.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "ENST00000695948.1",
"protein_id": "ENSP00000512293.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4249,
"cdna_end": null,
"cdna_length": 7844,
"mane_select": "NM_001395490.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695948.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "ENST00000541110.5",
"protein_id": "ENSP00000439689.1",
"transcript_support_level": 1,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4051,
"cdna_end": null,
"cdna_length": 7646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541110.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "ENST00000372922.8",
"protein_id": "ENSP00000362013.4",
"transcript_support_level": 1,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 3985,
"cdna_end": null,
"cdna_length": 7286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372922.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "n.*2656C>A",
"hgvs_p": null,
"transcript": "ENST00000372917.9",
"protein_id": "ENSP00000362008.6",
"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": 3919,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000372917.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "n.*2656C>A",
"hgvs_p": null,
"transcript": "ENST00000372917.9",
"protein_id": "ENSP00000362008.6",
"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": 3919,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000372917.9"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3518C>A",
"hgvs_p": "p.Ala1173Glu",
"transcript": "ENST00000934154.1",
"protein_id": "ENSP00000604213.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4133,
"cdna_end": null,
"cdna_length": 7721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934154.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3518C>A",
"hgvs_p": "p.Ala1173Glu",
"transcript": "ENST00000934164.1",
"protein_id": "ENSP00000604223.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4230,
"cdna_end": null,
"cdna_length": 7555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934164.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3518C>A",
"hgvs_p": "p.Ala1173Glu",
"transcript": "ENST00000934166.1",
"protein_id": "ENSP00000604225.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4107,
"cdna_end": null,
"cdna_length": 6936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934166.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3518C>A",
"hgvs_p": "p.Ala1173Glu",
"transcript": "ENST00000934174.1",
"protein_id": "ENSP00000604233.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4140,
"cdna_end": null,
"cdna_length": 4540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934174.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3518C>A",
"hgvs_p": "p.Ala1173Glu",
"transcript": "ENST00000934177.1",
"protein_id": "ENSP00000604236.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4096,
"cdna_end": null,
"cdna_length": 4494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934177.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3518C>A",
"hgvs_p": "p.Ala1173Glu",
"transcript": "ENST00000934179.1",
"protein_id": "ENSP00000604238.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4415,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934179.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3518C>A",
"hgvs_p": "p.Ala1173Glu",
"transcript": "ENST00000934183.1",
"protein_id": "ENSP00000604242.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4315,
"cdna_end": null,
"cdna_length": 4717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934183.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "NM_001297573.2",
"protein_id": "NP_001284502.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4224,
"cdna_end": null,
"cdna_length": 7819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297573.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "ENST00000934155.1",
"protein_id": "ENSP00000604214.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4118,
"cdna_end": null,
"cdna_length": 7713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934155.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "ENST00000934156.1",
"protein_id": "ENSP00000604215.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4065,
"cdna_end": null,
"cdna_length": 7390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934156.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "ENST00000934158.1",
"protein_id": "ENSP00000604217.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4274,
"cdna_end": null,
"cdna_length": 7599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934158.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "ENST00000934160.1",
"protein_id": "ENSP00000604219.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4284,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934160.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "ENST00000934161.1",
"protein_id": "ENSP00000604220.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4334,
"cdna_end": null,
"cdna_length": 7922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934161.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "ENST00000934162.1",
"protein_id": "ENSP00000604221.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4196,
"cdna_end": null,
"cdna_length": 7784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934162.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "ENST00000934165.1",
"protein_id": "ENSP00000604224.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4087,
"cdna_end": null,
"cdna_length": 6916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934165.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "ENST00000934169.1",
"protein_id": "ENSP00000604228.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4373,
"cdna_end": null,
"cdna_length": 7204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934169.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "ENST00000934175.1",
"protein_id": "ENSP00000604234.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4098,
"cdna_end": null,
"cdna_length": 4498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934175.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "ENST00000934178.1",
"protein_id": "ENSP00000604237.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4159,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934178.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "ENST00000934184.1",
"protein_id": "ENSP00000604243.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4319,
"cdna_end": null,
"cdna_length": 4717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934184.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "ENST00000934186.1",
"protein_id": "ENSP00000604245.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4379,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934186.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "ENST00000934159.1",
"protein_id": "ENSP00000604218.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4260,
"cdna_end": null,
"cdna_length": 7852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934159.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "ENST00000934167.1",
"protein_id": "ENSP00000604226.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4096,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934167.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "ENST00000934172.1",
"protein_id": "ENSP00000604231.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4099,
"cdna_end": null,
"cdna_length": 6928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934172.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "ENST00000934173.1",
"protein_id": "ENSP00000604232.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4150,
"cdna_end": null,
"cdna_length": 6979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934173.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "ENST00000934188.1",
"protein_id": "ENSP00000604247.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4232,
"cdna_end": null,
"cdna_length": 4626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934188.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "NM_001391983.1",
"protein_id": "NP_001378912.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4005,
"cdna_end": null,
"cdna_length": 7600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391983.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "NM_033502.4",
"protein_id": "NP_277037.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4164,
"cdna_end": null,
"cdna_length": 7759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033502.4"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "ENST00000695966.1",
"protein_id": "ENSP00000512292.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4005,
"cdna_end": null,
"cdna_length": 7600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695966.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "ENST00000868216.1",
"protein_id": "ENSP00000538275.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4110,
"cdna_end": null,
"cdna_length": 6022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868216.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "ENST00000934153.1",
"protein_id": "ENSP00000604212.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4079,
"cdna_end": null,
"cdna_length": 7667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934153.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "ENST00000934157.1",
"protein_id": "ENSP00000604216.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4215,
"cdna_end": null,
"cdna_length": 7540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934157.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "ENST00000934163.1",
"protein_id": "ENSP00000604222.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4365,
"cdna_end": null,
"cdna_length": 7194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934163.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "ENST00000934168.1",
"protein_id": "ENSP00000604227.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 3994,
"cdna_end": null,
"cdna_length": 6821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934168.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "ENST00000934170.1",
"protein_id": "ENSP00000604229.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4268,
"cdna_end": null,
"cdna_length": 7097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934170.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "ENST00000934171.1",
"protein_id": "ENSP00000604230.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4326,
"cdna_end": null,
"cdna_length": 7155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934171.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "ENST00000934176.1",
"protein_id": "ENSP00000604235.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 3888,
"cdna_end": null,
"cdna_length": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934176.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "ENST00000934182.1",
"protein_id": "ENSP00000604241.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4323,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934182.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "ENST00000934185.1",
"protein_id": "ENSP00000604244.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4209,
"cdna_end": null,
"cdna_length": 4611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934185.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "ENST00000954620.1",
"protein_id": "ENSP00000624679.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4134,
"cdna_end": null,
"cdna_length": 4539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954620.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3362C>A",
"hgvs_p": "p.Ala1121Glu",
"transcript": "ENST00000934180.1",
"protein_id": "ENSP00000604239.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3362,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 3933,
"cdna_end": null,
"cdna_length": 4332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934180.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3362C>A",
"hgvs_p": "p.Ala1121Glu",
"transcript": "ENST00000934187.1",
"protein_id": "ENSP00000604246.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3362,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 4080,
"cdna_end": null,
"cdna_length": 4482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934187.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3299C>A",
"hgvs_p": "p.Ala1100Glu",
"transcript": "ENST00000868217.1",
"protein_id": "ENSP00000538276.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3299,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 3987,
"cdna_end": null,
"cdna_length": 5899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868217.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3299C>A",
"hgvs_p": "p.Ala1100Glu",
"transcript": "ENST00000868219.1",
"protein_id": "ENSP00000538278.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3299,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 4086,
"cdna_end": null,
"cdna_length": 4411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868219.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3275C>A",
"hgvs_p": "p.Ala1092Glu",
"transcript": "ENST00000934181.1",
"protein_id": "ENSP00000604240.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 3836,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934181.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3209C>A",
"hgvs_p": "p.Ala1070Glu",
"transcript": "NM_001391984.1",
"protein_id": "NP_001378913.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3209,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3828,
"cdna_end": null,
"cdna_length": 7423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391984.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3209C>A",
"hgvs_p": "p.Ala1070Glu",
"transcript": "ENST00000340840.6",
"protein_id": "ENSP00000339438.2",
"transcript_support_level": 5,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3209,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3797,
"cdna_end": null,
"cdna_length": 4174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340840.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3173C>A",
"hgvs_p": "p.Ala1058Glu",
"transcript": "ENST00000354325.2",
"protein_id": "ENSP00000346285.2",
"transcript_support_level": 5,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3761,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354325.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3173C>A",
"hgvs_p": "p.Ala1058Glu",
"transcript": "ENST00000868215.1",
"protein_id": "ENSP00000538274.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3884,
"cdna_end": null,
"cdna_length": 7210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868215.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3173C>A",
"hgvs_p": "p.Ala1058Glu",
"transcript": "ENST00000868218.1",
"protein_id": "ENSP00000538277.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3783,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868218.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3173C>A",
"hgvs_p": "p.Ala1058Glu",
"transcript": "ENST00000954619.1",
"protein_id": "ENSP00000624678.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3789,
"cdna_end": null,
"cdna_length": 7382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954619.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3518C>A",
"hgvs_p": "p.Ala1173Glu",
"transcript": "XM_017011046.2",
"protein_id": "XP_016866535.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4309,
"cdna_end": null,
"cdna_length": 7904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011046.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3518C>A",
"hgvs_p": "p.Ala1173Glu",
"transcript": "XM_047419026.1",
"protein_id": "XP_047274982.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4359,
"cdna_end": null,
"cdna_length": 7954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419026.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3518C>A",
"hgvs_p": "p.Ala1173Glu",
"transcript": "XM_047419027.1",
"protein_id": "XP_047274983.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 7777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419027.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3518C>A",
"hgvs_p": "p.Ala1173Glu",
"transcript": "XM_047419028.1",
"protein_id": "XP_047274984.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4175,
"cdna_end": null,
"cdna_length": 7770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419028.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3518C>A",
"hgvs_p": "p.Ala1173Glu",
"transcript": "XM_047419029.1",
"protein_id": "XP_047274985.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 7696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419029.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3518C>A",
"hgvs_p": "p.Ala1173Glu",
"transcript": "XM_047419030.1",
"protein_id": "XP_047274986.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4132,
"cdna_end": null,
"cdna_length": 7727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419030.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3518C>A",
"hgvs_p": "p.Ala1173Glu",
"transcript": "XM_047419031.1",
"protein_id": "XP_047274987.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3518,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4225,
"cdna_end": null,
"cdna_length": 7820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419031.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "XM_017011048.2",
"protein_id": "XP_016866537.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4273,
"cdna_end": null,
"cdna_length": 7868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011048.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "XM_047419032.1",
"protein_id": "XP_047274988.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4323,
"cdna_end": null,
"cdna_length": 7918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419032.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "XM_047419033.1",
"protein_id": "XP_047274989.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4139,
"cdna_end": null,
"cdna_length": 7734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419033.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "XM_047419034.1",
"protein_id": "XP_047274990.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4096,
"cdna_end": null,
"cdna_length": 7691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419034.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "XM_047419035.1",
"protein_id": "XP_047274991.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4065,
"cdna_end": null,
"cdna_length": 7660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419035.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "XM_047419036.1",
"protein_id": "XP_047274992.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4189,
"cdna_end": null,
"cdna_length": 7784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419036.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "XM_047419037.1",
"protein_id": "XP_047274993.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4115,
"cdna_end": null,
"cdna_length": 7710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419037.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu",
"transcript": "XM_047419038.1",
"protein_id": "XP_047274994.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4146,
"cdna_end": null,
"cdna_length": 7741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419038.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "XM_047419039.1",
"protein_id": "XP_047274995.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4299,
"cdna_end": null,
"cdna_length": 7894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419039.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "XM_047419040.1",
"protein_id": "XP_047274996.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4072,
"cdna_end": null,
"cdna_length": 7667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419040.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "XM_047419041.1",
"protein_id": "XP_047274997.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4165,
"cdna_end": null,
"cdna_length": 7760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419041.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "XM_047419043.1",
"protein_id": "XP_047274999.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4122,
"cdna_end": null,
"cdna_length": 7717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419043.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "XM_047419044.1",
"protein_id": "XP_047275000.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4115,
"cdna_end": null,
"cdna_length": 7710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419044.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "XM_047419045.1",
"protein_id": "XP_047275001.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4348,
"cdna_end": null,
"cdna_length": 7943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419045.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "XM_047419046.1",
"protein_id": "XP_047275002.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4041,
"cdna_end": null,
"cdna_length": 7636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419046.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3458C>A",
"hgvs_p": "p.Ala1153Glu",
"transcript": "XM_047419047.1",
"protein_id": "XP_047275003.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3458,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4091,
"cdna_end": null,
"cdna_length": 7686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419047.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "XM_017011049.2",
"protein_id": "XP_016866538.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4213,
"cdna_end": null,
"cdna_length": 7808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011049.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "XM_047419048.1",
"protein_id": "XP_047275004.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4079,
"cdna_end": null,
"cdna_length": 7674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419048.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "XM_047419049.1",
"protein_id": "XP_047275005.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4036,
"cdna_end": null,
"cdna_length": 7631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419049.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "XM_047419050.1",
"protein_id": "XP_047275006.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4263,
"cdna_end": null,
"cdna_length": 7858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419050.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "XM_047419051.1",
"protein_id": "XP_047275007.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4055,
"cdna_end": null,
"cdna_length": 7650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419051.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "XM_047419053.1",
"protein_id": "XP_047275009.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4129,
"cdna_end": null,
"cdna_length": 7724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419053.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "XM_047419054.1",
"protein_id": "XP_047275010.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4312,
"cdna_end": null,
"cdna_length": 7907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419054.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "XM_047419055.1",
"protein_id": "XP_047275011.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4178,
"cdna_end": null,
"cdna_length": 7773,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419055.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3422C>A",
"hgvs_p": "p.Ala1141Glu",
"transcript": "XM_047419056.1",
"protein_id": "XP_047275012.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4086,
"cdna_end": null,
"cdna_length": 7681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419056.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3209C>A",
"hgvs_p": "p.Ala1070Glu",
"transcript": "XM_017011052.2",
"protein_id": "XP_016866541.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3209,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 4000,
"cdna_end": null,
"cdna_length": 7595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011052.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3209C>A",
"hgvs_p": "p.Ala1070Glu",
"transcript": "XM_047419057.1",
"protein_id": "XP_047275013.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3209,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 4050,
"cdna_end": null,
"cdna_length": 7645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419057.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3209C>A",
"hgvs_p": "p.Ala1070Glu",
"transcript": "XM_047419058.1",
"protein_id": "XP_047275014.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3209,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3823,
"cdna_end": null,
"cdna_length": 7418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419058.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3209C>A",
"hgvs_p": "p.Ala1070Glu",
"transcript": "XM_047419059.1",
"protein_id": "XP_047275015.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3209,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3873,
"cdna_end": null,
"cdna_length": 7468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419059.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3209C>A",
"hgvs_p": "p.Ala1070Glu",
"transcript": "XM_047419060.1",
"protein_id": "XP_047275016.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3209,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3792,
"cdna_end": null,
"cdna_length": 7387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419060.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3209C>A",
"hgvs_p": "p.Ala1070Glu",
"transcript": "XM_047419061.1",
"protein_id": "XP_047275017.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3209,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3866,
"cdna_end": null,
"cdna_length": 7461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419061.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3209C>A",
"hgvs_p": "p.Ala1070Glu",
"transcript": "XM_047419062.1",
"protein_id": "XP_047275018.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3209,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3916,
"cdna_end": null,
"cdna_length": 7511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419062.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3173C>A",
"hgvs_p": "p.Ala1058Glu",
"transcript": "XM_017011054.2",
"protein_id": "XP_016866543.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3964,
"cdna_end": null,
"cdna_length": 7559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011054.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3173C>A",
"hgvs_p": "p.Ala1058Glu",
"transcript": "XM_047419063.1",
"protein_id": "XP_047275019.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 4014,
"cdna_end": null,
"cdna_length": 7609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419063.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3173C>A",
"hgvs_p": "p.Ala1058Glu",
"transcript": "XM_047419064.1",
"protein_id": "XP_047275020.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3787,
"cdna_end": null,
"cdna_length": 7382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419064.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3173C>A",
"hgvs_p": "p.Ala1058Glu",
"transcript": "XM_047419065.1",
"protein_id": "XP_047275021.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3806,
"cdna_end": null,
"cdna_length": 7401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419065.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3173C>A",
"hgvs_p": "p.Ala1058Glu",
"transcript": "XM_047419066.1",
"protein_id": "XP_047275022.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3880,
"cdna_end": null,
"cdna_length": 7475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419066.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3173C>A",
"hgvs_p": "p.Ala1058Glu",
"transcript": "XM_047419067.1",
"protein_id": "XP_047275023.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3830,
"cdna_end": null,
"cdna_length": 7425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419067.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3173C>A",
"hgvs_p": "p.Ala1058Glu",
"transcript": "XM_047419068.1",
"protein_id": "XP_047275024.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3756,
"cdna_end": null,
"cdna_length": 7351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419068.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3173C>A",
"hgvs_p": "p.Ala1058Glu",
"transcript": "XM_047419069.1",
"protein_id": "XP_047275025.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3837,
"cdna_end": null,
"cdna_length": 7432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419069.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "n.*2692C>A",
"hgvs_p": null,
"transcript": "ENST00000695947.1",
"protein_id": "ENSP00000512280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695947.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "n.*2692C>A",
"hgvs_p": null,
"transcript": "ENST00000695947.1",
"protein_id": "ENSP00000512280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695947.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105375061",
"gene_hgnc_id": null,
"hgvs_c": "n.121+3667G>T",
"hgvs_p": null,
"transcript": "XR_001744122.2",
"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": 626,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001744122.2"
}
],
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"dbsnp": "rs773652505",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06545433402061462,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.1185,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.923,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001297573.2",
"gene_symbol": "TRERF1",
"hgnc_id": 18273,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3482C>A",
"hgvs_p": "p.Ala1161Glu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_001744122.2",
"gene_symbol": "LOC105375061",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.121+3667G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}