← 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: 17-78126632-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78126632&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMC6",
"hgnc_id": 18021,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_007267.7",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": 0.1599,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 1, susceptibility to,Epidermodysplasia verruciformis,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0887763500213623,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8387,
"cdna_start": 291,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001127198.5",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000590602.6",
"protein_coding": true,
"protein_id": "NP_001120670.1",
"strand": false,
"transcript": "NM_001127198.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8387,
"cdna_start": 291,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000590602.6",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001127198.5",
"protein_coding": true,
"protein_id": "ENSP00000465261.1",
"strand": false,
"transcript": "ENST00000590602.6",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 214,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000322914.7",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313408.2",
"strand": false,
"transcript": "ENST00000322914.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 261,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000392467.7",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376260.2",
"strand": false,
"transcript": "ENST00000392467.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 853,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": 165,
"cds_end": null,
"cds_length": 2562,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893492.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563551.1",
"strand": false,
"transcript": "ENST00000893492.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 809,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": 294,
"cds_end": null,
"cds_length": 2430,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893468.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563527.1",
"strand": false,
"transcript": "ENST00000893468.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 809,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2875,
"cdna_start": 290,
"cds_end": null,
"cds_length": 2430,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893485.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563544.1",
"strand": false,
"transcript": "ENST00000893485.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 809,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 218,
"cds_end": null,
"cds_length": 2430,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922743.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592802.1",
"strand": false,
"transcript": "ENST00000922743.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2858,
"cdna_start": 283,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001321185.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308114.1",
"strand": false,
"transcript": "NM_001321185.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7030,
"cdna_start": 312,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001374596.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361525.1",
"strand": false,
"transcript": "NM_001374596.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 312,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001375353.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362282.1",
"strand": false,
"transcript": "NM_001375353.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 359,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001375354.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362283.1",
"strand": false,
"transcript": "NM_001375354.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 234,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_007267.7",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_009198.4",
"strand": false,
"transcript": "NM_007267.7",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 321,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000589271.6",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468255.2",
"strand": false,
"transcript": "ENST00000589271.6",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 359,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000592063.6",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466885.2",
"strand": false,
"transcript": "ENST00000592063.6",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2847,
"cdna_start": 287,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698550.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513793.1",
"strand": false,
"transcript": "ENST00000698550.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2772,
"cdna_start": 201,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893453.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563512.1",
"strand": false,
"transcript": "ENST00000893453.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2761,
"cdna_start": 190,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893454.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563513.1",
"strand": false,
"transcript": "ENST00000893454.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2798,
"cdna_start": 224,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893455.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563514.1",
"strand": false,
"transcript": "ENST00000893455.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893460.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563519.1",
"strand": false,
"transcript": "ENST00000893460.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 432,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893481.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563540.1",
"strand": false,
"transcript": "ENST00000893481.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 179,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893491.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563550.1",
"strand": false,
"transcript": "ENST00000893491.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": 726,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893493.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563552.1",
"strand": false,
"transcript": "ENST00000893493.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": 304,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893494.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563553.1",
"strand": false,
"transcript": "ENST00000893494.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3444,
"cdna_start": 870,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893500.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563559.1",
"strand": false,
"transcript": "ENST00000893500.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2859,
"cdna_start": 285,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922735.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592794.1",
"strand": false,
"transcript": "ENST00000922735.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": 667,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922736.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592795.1",
"strand": false,
"transcript": "ENST00000922736.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 228,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922739.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592798.1",
"strand": false,
"transcript": "ENST00000922739.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3150,
"cdna_start": 575,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000972374.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642433.1",
"strand": false,
"transcript": "ENST00000972374.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 248,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972375.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642434.1",
"strand": false,
"transcript": "ENST00000972375.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 797,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 279,
"cds_end": null,
"cds_length": 2394,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893475.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563534.1",
"strand": false,
"transcript": "ENST00000893475.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 797,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 338,
"cds_end": null,
"cds_length": 2394,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893476.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563535.1",
"strand": false,
"transcript": "ENST00000893476.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 797,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": 244,
"cds_end": null,
"cds_length": 2394,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922742.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592801.1",
"strand": false,
"transcript": "ENST00000922742.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 791,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2753,
"cdna_start": 224,
"cds_end": null,
"cds_length": 2376,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893458.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563517.1",
"strand": false,
"transcript": "ENST00000893458.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 791,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2832,
"cdna_start": 300,
"cds_end": null,
"cds_length": 2376,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893466.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563525.1",
"strand": false,
"transcript": "ENST00000893466.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 791,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 253,
"cds_end": null,
"cds_length": 2376,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893467.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563526.1",
"strand": false,
"transcript": "ENST00000893467.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 791,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 393,
"cds_end": null,
"cds_length": 2376,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000922748.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592807.1",
"strand": false,
"transcript": "ENST00000922748.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 788,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 253,
"cds_end": null,
"cds_length": 2367,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893465.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563524.1",
"strand": false,
"transcript": "ENST00000893465.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 782,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2834,
"cdna_start": 330,
"cds_end": null,
"cds_length": 2349,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972372.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642431.1",
"strand": false,
"transcript": "ENST00000972372.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 767,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2758,
"cdna_start": 300,
"cds_end": null,
"cds_length": 2304,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922741.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592800.1",
"strand": false,
"transcript": "ENST00000922741.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 231,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893457.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563516.1",
"strand": false,
"transcript": "ENST00000893457.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 287,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893461.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563520.1",
"strand": false,
"transcript": "ENST00000893461.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 330,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893463.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563522.1",
"strand": false,
"transcript": "ENST00000893463.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2804,
"cdna_start": 359,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893471.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563530.1",
"strand": false,
"transcript": "ENST00000893471.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2749,
"cdna_start": 301,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893474.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563533.1",
"strand": false,
"transcript": "ENST00000893474.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2896,
"cdna_start": 448,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893484.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563543.1",
"strand": false,
"transcript": "ENST00000893484.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3954,
"cdna_start": 1509,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893498.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563557.1",
"strand": false,
"transcript": "ENST00000893498.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3111,
"cdna_start": 666,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000922737.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592796.1",
"strand": false,
"transcript": "ENST00000922737.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2950,
"cdna_start": 503,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922745.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592804.1",
"strand": false,
"transcript": "ENST00000922745.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3178,
"cdna_start": 730,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922747.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592806.1",
"strand": false,
"transcript": "ENST00000922747.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 222,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972370.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642429.1",
"strand": false,
"transcript": "ENST00000972370.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 753,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2718,
"cdna_start": 300,
"cds_end": null,
"cds_length": 2262,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893464.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563523.1",
"strand": false,
"transcript": "ENST00000893464.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 753,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 244,
"cds_end": null,
"cds_length": 2262,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893469.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563528.1",
"strand": false,
"transcript": "ENST00000893469.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 753,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 468,
"cds_end": null,
"cds_length": 2262,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893502.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563561.1",
"strand": false,
"transcript": "ENST00000893502.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 753,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 290,
"cds_end": null,
"cds_length": 2262,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972383.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642442.1",
"strand": false,
"transcript": "ENST00000972383.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 749,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": 253,
"cds_end": null,
"cds_length": 2250,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972377.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642436.1",
"strand": false,
"transcript": "ENST00000972377.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 746,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2616,
"cdna_start": 222,
"cds_end": null,
"cds_length": 2241,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893488.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563547.1",
"strand": false,
"transcript": "ENST00000893488.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6829,
"cdna_start": 291,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001374593.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361522.1",
"strand": false,
"transcript": "NM_001374593.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6782,
"cdna_start": 244,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001374594.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361523.1",
"strand": false,
"transcript": "NM_001374594.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2654,
"cdna_start": 274,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698548.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513791.1",
"strand": false,
"transcript": "ENST00000698548.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2611,
"cdna_start": 217,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893456.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563515.1",
"strand": false,
"transcript": "ENST00000893456.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2682,
"cdna_start": 287,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893462.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563521.1",
"strand": false,
"transcript": "ENST00000893462.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": 264,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893479.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563538.1",
"strand": false,
"transcript": "ENST00000893479.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 495,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893480.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563539.1",
"strand": false,
"transcript": "ENST00000893480.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 290,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893489.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563548.1",
"strand": false,
"transcript": "ENST00000893489.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 304,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893495.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563554.1",
"strand": false,
"transcript": "ENST00000893495.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3101,
"cdna_start": 710,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893497.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563556.1",
"strand": false,
"transcript": "ENST00000893497.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3269,
"cdna_start": 875,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893499.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563558.1",
"strand": false,
"transcript": "ENST00000893499.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2611,
"cdna_start": 223,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922738.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592797.1",
"strand": false,
"transcript": "ENST00000922738.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4398,
"cdna_start": 2004,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000922740.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592799.1",
"strand": false,
"transcript": "ENST00000922740.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3171,
"cdna_start": 785,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972384.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642443.1",
"strand": false,
"transcript": "ENST00000972384.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 744,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 253,
"cds_end": null,
"cds_length": 2235,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922744.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592803.1",
"strand": false,
"transcript": "ENST00000922744.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 737,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": 265,
"cds_end": null,
"cds_length": 2214,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972380.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642439.1",
"strand": false,
"transcript": "ENST00000972380.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 731,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": 244,
"cds_end": null,
"cds_length": 2196,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893470.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563529.1",
"strand": false,
"transcript": "ENST00000893470.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 253,
"cds_end": null,
"cds_length": 2136,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972378.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642437.1",
"strand": false,
"transcript": "ENST00000972378.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 711,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2581,
"cdna_start": 290,
"cds_end": null,
"cds_length": 2136,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972382.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642441.1",
"strand": false,
"transcript": "ENST00000972382.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 707,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": 222,
"cds_end": null,
"cds_length": 2124,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893487.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563546.1",
"strand": false,
"transcript": "ENST00000893487.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 703,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 244,
"cds_end": null,
"cds_length": 2112,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893472.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563531.1",
"strand": false,
"transcript": "ENST00000893472.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 703,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": 279,
"cds_end": null,
"cds_length": 2112,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893473.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563532.1",
"strand": false,
"transcript": "ENST00000893473.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 703,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3792,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 2112,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893496.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563555.1",
"strand": false,
"transcript": "ENST00000893496.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 703,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": 278,
"cds_end": null,
"cds_length": 2112,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972379.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642438.1",
"strand": false,
"transcript": "ENST00000972379.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 695,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 296,
"cds_end": null,
"cds_length": 2088,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972371.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642430.1",
"strand": false,
"transcript": "ENST00000972371.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 693,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": 207,
"cds_end": null,
"cds_length": 2082,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893478.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563537.1",
"strand": false,
"transcript": "ENST00000893478.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 693,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 222,
"cds_end": null,
"cds_length": 2082,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893483.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563542.1",
"strand": false,
"transcript": "ENST00000893483.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 693,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2947,
"cdna_start": 717,
"cds_end": null,
"cds_length": 2082,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972385.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642444.1",
"strand": false,
"transcript": "ENST00000972385.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 651,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2287,
"cdna_start": 175,
"cds_end": null,
"cds_length": 1956,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893482.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563541.1",
"strand": false,
"transcript": "ENST00000893482.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 643,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 254,
"cds_end": null,
"cds_length": 1932,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972381.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642440.1",
"strand": false,
"transcript": "ENST00000972381.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 607,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 295,
"cds_end": null,
"cds_length": 1824,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893477.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563536.1",
"strand": false,
"transcript": "ENST00000893477.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 287,
"cds_end": null,
"cds_length": 1632,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972373.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642432.1",
"strand": false,
"transcript": "ENST00000972373.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 455,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 292,
"cds_end": null,
"cds_length": 1368,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893459.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563518.1",
"strand": false,
"transcript": "ENST00000893459.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 455,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 222,
"cds_end": null,
"cds_length": 1368,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893486.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563545.1",
"strand": false,
"transcript": "ENST00000893486.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 455,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 175,
"cds_end": null,
"cds_length": 1368,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893490.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563549.1",
"strand": false,
"transcript": "ENST00000893490.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 455,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 1368,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893501.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563560.1",
"strand": false,
"transcript": "ENST00000893501.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 455,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1368,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922746.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592805.1",
"strand": false,
"transcript": "ENST00000922746.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 454,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1681,
"cdna_start": 166,
"cds_end": null,
"cds_length": 1365,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000306591.11",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000306405.6",
"strand": false,
"transcript": "ENST00000306591.11",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 413,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1697,
"cdna_start": 299,
"cds_end": null,
"cds_length": 1242,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000972376.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642435.1",
"strand": false,
"transcript": "ENST00000972376.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8455,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024450556.2",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306324.1",
"strand": false,
"transcript": "XM_024450556.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7169,
"cdna_start": 283,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435250.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291206.1",
"strand": false,
"transcript": "XM_047435250.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7245,
"cdna_start": 359,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435251.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291207.1",
"strand": false,
"transcript": "XM_047435251.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7237,
"cdna_start": 351,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435252.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291208.1",
"strand": false,
"transcript": "XM_047435252.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7120,
"cdna_start": 234,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435253.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291209.1",
"strand": false,
"transcript": "XM_047435253.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7597,
"cdna_start": 711,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435254.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291210.1",
"strand": false,
"transcript": "XM_047435254.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7188,
"cdna_start": 302,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435255.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291211.1",
"strand": false,
"transcript": "XM_047435255.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8203,
"cdna_start": 1996,
"cds_end": null,
"cds_length": 2418,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047435256.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291212.1",
"strand": false,
"transcript": "XM_047435256.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7119,
"cdna_start": 359,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011524256.2",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522558.1",
"strand": false,
"transcript": "XM_011524256.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8756,
"cdna_start": 1996,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047435257.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291213.1",
"strand": false,
"transcript": "XM_047435257.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7051,
"cdna_start": 291,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435258.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291214.1",
"strand": false,
"transcript": "XM_047435258.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7043,
"cdna_start": 283,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435259.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291215.1",
"strand": false,
"transcript": "XM_047435259.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6994,
"cdna_start": 234,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435260.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291216.1",
"strand": false,
"transcript": "XM_047435260.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7111,
"cdna_start": 351,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435261.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291217.1",
"strand": false,
"transcript": "XM_047435261.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7471,
"cdna_start": 711,
"cds_end": null,
"cds_length": 2292,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435263.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291219.1",
"strand": false,
"transcript": "XM_047435263.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6997,
"cdna_start": 291,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435264.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291220.1",
"strand": false,
"transcript": "XM_047435264.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6989,
"cdna_start": 283,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435265.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291221.1",
"strand": false,
"transcript": "XM_047435265.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7065,
"cdna_start": 359,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435266.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291222.1",
"strand": false,
"transcript": "XM_047435266.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7008,
"cdna_start": 302,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435267.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291223.1",
"strand": false,
"transcript": "XM_047435267.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7057,
"cdna_start": 351,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435268.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291224.1",
"strand": false,
"transcript": "XM_047435268.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6940,
"cdna_start": 234,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435269.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291225.1",
"strand": false,
"transcript": "XM_047435269.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7417,
"cdna_start": 711,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435270.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291226.1",
"strand": false,
"transcript": "XM_047435270.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6310,
"cdna_start": 283,
"cds_end": null,
"cds_length": 2238,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435271.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291227.1",
"strand": false,
"transcript": "XM_047435271.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 703,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8576,
"cdna_start": 1996,
"cds_end": null,
"cds_length": 2112,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047435272.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291228.1",
"strand": false,
"transcript": "XM_047435272.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 703,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6871,
"cdna_start": 291,
"cds_end": null,
"cds_length": 2112,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435273.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291229.1",
"strand": false,
"transcript": "XM_047435273.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 703,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6863,
"cdna_start": 283,
"cds_end": null,
"cds_length": 2112,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435274.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291230.1",
"strand": false,
"transcript": "XM_047435274.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 703,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7291,
"cdna_start": 711,
"cds_end": null,
"cds_length": 2112,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435275.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291231.1",
"strand": false,
"transcript": "XM_047435275.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 455,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7832,
"cdna_start": 1996,
"cds_end": null,
"cds_length": 1368,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047435276.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291232.1",
"strand": false,
"transcript": "XM_047435276.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 455,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6127,
"cdna_start": 291,
"cds_end": null,
"cds_length": 1368,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435277.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291233.1",
"strand": false,
"transcript": "XM_047435277.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 455,
"aa_ref": "Y",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6119,
"cdna_start": 283,
"cds_end": null,
"cds_length": 1368,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435278.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Tyr25His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291234.1",
"strand": false,
"transcript": "XM_047435278.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000586697.5",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.161T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000586697.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000588087.5",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.266T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000588087.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 843,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000588792.5",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.291T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000588792.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2389,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000589553.5",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.188T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000589553.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 517,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000590162.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.238T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000590162.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 614,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000591594.5",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.73T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000591594.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 551,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000592594.5",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.194T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000592594.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000593044.5",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.261T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000593044.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2728,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698547.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.73T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513790.1",
"strand": false,
"transcript": "ENST00000698547.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698551.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.73T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513794.1",
"strand": false,
"transcript": "ENST00000698551.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6498,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_168288.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.291T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_168288.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7177,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_168289.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.291T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_168289.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7080,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_168290.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.291T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_168290.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6451,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_168291.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.244T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_168291.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 821,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586126.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.57-36T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466159.1",
"strand": false,
"transcript": "ENST00000586126.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000698546.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.57-33T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513789.1",
"strand": false,
"transcript": "ENST00000698546.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000698549.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "n.57-33T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513792.1",
"strand": false,
"transcript": "ENST00000698549.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs765966901",
"effect": "missense_variant",
"frequency_reference_population": 0.00001053793,
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136879,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 15,
"gnomad_genomes_af": 0.0000986323,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Epidermodysplasia verruciformis|Epidermodysplasia verruciformis, susceptibility to, 1|Inborn genetic diseases",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.132,
"pos": 78126632,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.138,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05000000074505806,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.05,
"transcript": "NM_007267.7"
}
]
}