← 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: 9-132897591-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132897591&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TSC1",
"hgnc_id": 12362,
"hgvs_c": "c.2645C>G",
"hgvs_p": "p.Ala882Gly",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_000368.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1264,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Tuberous sclerosis 1",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2188667356967926,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8598,
"cdna_start": 2862,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_000368.5",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2645C>G",
"hgvs_p": "p.Ala882Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000298552.9",
"protein_coding": true,
"protein_id": "NP_000359.1",
"strand": false,
"transcript": "NM_000368.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8598,
"cdna_start": 2862,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000298552.9",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2645C>G",
"hgvs_p": "p.Ala882Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000368.5",
"protein_coding": true,
"protein_id": "ENSP00000298552.3",
"strand": false,
"transcript": "ENST00000298552.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8690,
"cdna_start": 2954,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000490179.4",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2645C>G",
"hgvs_p": "p.Ala882Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495533.2",
"strand": false,
"transcript": "ENST00000490179.4",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8569,
"cdna_start": 2833,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406592.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2645C>G",
"hgvs_p": "p.Ala882Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393521.1",
"strand": false,
"transcript": "NM_001406592.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8594,
"cdna_start": 2858,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406593.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2645C>G",
"hgvs_p": "p.Ala882Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393522.1",
"strand": false,
"transcript": "NM_001406593.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8817,
"cdna_start": 3081,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001406594.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2645C>G",
"hgvs_p": "p.Ala882Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393523.1",
"strand": false,
"transcript": "NM_001406594.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8788,
"cdna_start": 3052,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001406595.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2645C>G",
"hgvs_p": "p.Ala882Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393524.1",
"strand": false,
"transcript": "NM_001406595.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8535,
"cdna_start": 2799,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001406596.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2645C>G",
"hgvs_p": "p.Ala882Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393525.1",
"strand": false,
"transcript": "NM_001406596.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6591,
"cdna_start": 2859,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000643875.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2645C>G",
"hgvs_p": "p.Ala882Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495158.1",
"strand": false,
"transcript": "ENST00000643875.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8715,
"cdna_start": 2979,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000646440.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2645C>G",
"hgvs_p": "p.Ala882Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495830.2",
"strand": false,
"transcript": "ENST00000646440.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8582,
"cdna_start": 2850,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000646625.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2645C>G",
"hgvs_p": "p.Ala882Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496263.1",
"strand": false,
"transcript": "ENST00000646625.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8595,
"cdna_start": 2859,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2642,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001162426.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2642C>G",
"hgvs_p": "p.Ala881Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001155898.1",
"strand": false,
"transcript": "NM_001162426.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8566,
"cdna_start": 2830,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2642,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406597.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2642C>G",
"hgvs_p": "p.Ala881Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393526.1",
"strand": false,
"transcript": "NM_001406597.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8591,
"cdna_start": 2855,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2642,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406598.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2642C>G",
"hgvs_p": "p.Ala881Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393527.1",
"strand": false,
"transcript": "NM_001406598.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8814,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2642,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001406599.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2642C>G",
"hgvs_p": "p.Ala881Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393528.1",
"strand": false,
"transcript": "NM_001406599.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8785,
"cdna_start": 3049,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2642,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001406600.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2642C>G",
"hgvs_p": "p.Ala881Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393529.1",
"strand": false,
"transcript": "NM_001406600.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8535,
"cdna_start": 2799,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2642,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000475903.7",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2642C>G",
"hgvs_p": "p.Ala881Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496126.2",
"strand": false,
"transcript": "ENST00000475903.7",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4039,
"cdna_start": 2866,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2642,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000642617.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2642C>G",
"hgvs_p": "p.Ala881Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493773.1",
"strand": false,
"transcript": "ENST00000642617.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8715,
"cdna_start": 2983,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2642,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000644097.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2642C>G",
"hgvs_p": "p.Ala881Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494682.1",
"strand": false,
"transcript": "ENST00000644097.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3973,
"cdna_start": 2855,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2642,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000911226.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2642C>G",
"hgvs_p": "p.Ala881Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581285.1",
"strand": false,
"transcript": "ENST00000911226.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "A",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 2840,
"cds_end": null,
"cds_length": 3492,
"cds_start": 2642,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000935874.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2642C>G",
"hgvs_p": "p.Ala881Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605933.1",
"strand": false,
"transcript": "ENST00000935874.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "A",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8583,
"cdna_start": 2847,
"cds_end": null,
"cds_length": 3480,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406601.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2630C>G",
"hgvs_p": "p.Ala877Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393530.1",
"strand": false,
"transcript": "NM_001406601.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "A",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8554,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 3480,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406602.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2630C>G",
"hgvs_p": "p.Ala877Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393531.1",
"strand": false,
"transcript": "NM_001406602.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "A",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3953,
"cdna_start": 2846,
"cds_end": null,
"cds_length": 3480,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000643583.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2630C>G",
"hgvs_p": "p.Ala877Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494685.1",
"strand": false,
"transcript": "ENST00000643583.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "A",
"aa_start": 876,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8551,
"cdna_start": 2815,
"cds_end": null,
"cds_length": 3477,
"cds_start": 2627,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406603.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2627C>G",
"hgvs_p": "p.Ala876Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393532.1",
"strand": false,
"transcript": "NM_001406603.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "A",
"aa_start": 876,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8580,
"cdna_start": 2844,
"cds_end": null,
"cds_length": 3477,
"cds_start": 2627,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406604.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2627C>G",
"hgvs_p": "p.Ala876Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393533.1",
"strand": false,
"transcript": "NM_001406604.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "A",
"aa_start": 876,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8579,
"cdna_start": 2847,
"cds_end": null,
"cds_length": 3477,
"cds_start": 2627,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000642627.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2627C>G",
"hgvs_p": "p.Ala876Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496772.1",
"strand": false,
"transcript": "ENST00000642627.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "A",
"aa_start": 868,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8556,
"cdna_start": 2820,
"cds_end": null,
"cds_length": 3453,
"cds_start": 2603,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406605.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2603C>G",
"hgvs_p": "p.Ala868Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393534.1",
"strand": false,
"transcript": "NM_001406605.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "A",
"aa_start": 868,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8527,
"cdna_start": 2791,
"cds_end": null,
"cds_length": 3453,
"cds_start": 2603,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406606.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2603C>G",
"hgvs_p": "p.Ala868Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393535.1",
"strand": false,
"transcript": "NM_001406606.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "A",
"aa_start": 868,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8552,
"cdna_start": 2816,
"cds_end": null,
"cds_length": 3453,
"cds_start": 2603,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406607.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2603C>G",
"hgvs_p": "p.Ala868Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393536.1",
"strand": false,
"transcript": "NM_001406607.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "A",
"aa_start": 868,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8559,
"cdna_start": 2827,
"cds_end": null,
"cds_length": 3453,
"cds_start": 2603,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000644184.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2603C>G",
"hgvs_p": "p.Ala868Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495428.2",
"strand": false,
"transcript": "ENST00000644184.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "A",
"aa_start": 868,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3993,
"cdna_start": 2803,
"cds_end": null,
"cds_length": 3453,
"cds_start": 2603,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000911225.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2603C>G",
"hgvs_p": "p.Ala868Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581284.1",
"strand": false,
"transcript": "ENST00000911225.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "A",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8553,
"cdna_start": 2817,
"cds_end": null,
"cds_length": 3450,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406608.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2600C>G",
"hgvs_p": "p.Ala867Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393537.1",
"strand": false,
"transcript": "NM_001406608.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "A",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8524,
"cdna_start": 2788,
"cds_end": null,
"cds_length": 3450,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406609.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2600C>G",
"hgvs_p": "p.Ala867Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393538.1",
"strand": false,
"transcript": "NM_001406609.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "A",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8445,
"cdna_start": 2709,
"cds_end": null,
"cds_length": 3342,
"cds_start": 2492,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001162427.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2492C>G",
"hgvs_p": "p.Ala831Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001155899.1",
"strand": false,
"transcript": "NM_001162427.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "A",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8416,
"cdna_start": 2680,
"cds_end": null,
"cds_length": 3342,
"cds_start": 2492,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001406610.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2492C>G",
"hgvs_p": "p.Ala831Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393539.1",
"strand": false,
"transcript": "NM_001406610.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "A",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3596,
"cdna_start": 2709,
"cds_end": null,
"cds_length": 3342,
"cds_start": 2492,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000643072.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2492C>G",
"hgvs_p": "p.Ala831Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496691.1",
"strand": false,
"transcript": "ENST00000643072.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1112,
"aa_ref": "A",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8442,
"cdna_start": 2706,
"cds_end": null,
"cds_length": 3339,
"cds_start": 2489,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001406611.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393540.1",
"strand": false,
"transcript": "NM_001406611.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1112,
"aa_ref": "A",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8413,
"cdna_start": 2677,
"cds_end": null,
"cds_length": 3339,
"cds_start": 2489,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001406612.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393541.1",
"strand": false,
"transcript": "NM_001406612.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1112,
"aa_ref": "A",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8430,
"cdna_start": 2694,
"cds_end": null,
"cds_length": 3339,
"cds_start": 2489,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000645129.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493639.2",
"strand": false,
"transcript": "ENST00000645129.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1112,
"aa_ref": "A",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8451,
"cdna_start": 2718,
"cds_end": null,
"cds_length": 3339,
"cds_start": 2489,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000935873.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605932.1",
"strand": false,
"transcript": "ENST00000935873.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1098,
"aa_ref": "A",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8371,
"cdna_start": 2635,
"cds_end": null,
"cds_length": 3297,
"cds_start": 2447,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001406613.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2447C>G",
"hgvs_p": "p.Ala816Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393542.1",
"strand": false,
"transcript": "NM_001406613.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "A",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8494,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2282,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001362177.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2282C>G",
"hgvs_p": "p.Ala761Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349106.1",
"strand": false,
"transcript": "NM_001362177.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "A",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8586,
"cdna_start": 2850,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2282,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406614.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2282C>G",
"hgvs_p": "p.Ala761Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393543.1",
"strand": false,
"transcript": "NM_001406614.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "A",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8723,
"cdna_start": 2987,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2282,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001406615.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2282C>G",
"hgvs_p": "p.Ala761Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393544.1",
"strand": false,
"transcript": "NM_001406615.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "A",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8690,
"cdna_start": 2954,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2282,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001406616.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2282C>G",
"hgvs_p": "p.Ala761Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393545.1",
"strand": false,
"transcript": "NM_001406616.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "A",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8465,
"cdna_start": 2729,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2282,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001406617.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2282C>G",
"hgvs_p": "p.Ala761Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393546.1",
"strand": false,
"transcript": "NM_001406617.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "A",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8279,
"cdna_start": 2543,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2282,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001406618.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2282C>G",
"hgvs_p": "p.Ala761Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393547.1",
"strand": false,
"transcript": "NM_001406618.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "A",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8490,
"cdna_start": 2754,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2282,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001406619.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2282C>G",
"hgvs_p": "p.Ala761Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393548.1",
"strand": false,
"transcript": "NM_001406619.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "A",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8296,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 3132,
"cds_start": 2282,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000643691.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2282C>G",
"hgvs_p": "p.Ala761Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494916.2",
"strand": false,
"transcript": "ENST00000643691.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "A",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8276,
"cdna_start": 2540,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2279,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001406620.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2279C>G",
"hgvs_p": "p.Ala760Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393549.1",
"strand": false,
"transcript": "NM_001406620.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "A",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8462,
"cdna_start": 2726,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2279,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001406621.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2279C>G",
"hgvs_p": "p.Ala760Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393550.1",
"strand": false,
"transcript": "NM_001406621.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "A",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8491,
"cdna_start": 2755,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2279,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001406622.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2279C>G",
"hgvs_p": "p.Ala760Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393551.1",
"strand": false,
"transcript": "NM_001406622.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "A",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8720,
"cdna_start": 2984,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2279,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001406623.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2279C>G",
"hgvs_p": "p.Ala760Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393552.1",
"strand": false,
"transcript": "NM_001406623.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "A",
"aa_start": 753,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8253,
"cdna_start": 2517,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2258,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000643362.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2258C>G",
"hgvs_p": "p.Ala753Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496398.2",
"strand": false,
"transcript": "ENST00000643362.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "A",
"aa_start": 747,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8648,
"cdna_start": 2912,
"cds_end": null,
"cds_length": 3090,
"cds_start": 2240,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001406624.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2240C>G",
"hgvs_p": "p.Ala747Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393553.1",
"strand": false,
"transcript": "NM_001406624.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1028,
"aa_ref": "A",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8420,
"cdna_start": 2684,
"cds_end": null,
"cds_length": 3087,
"cds_start": 2237,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001406625.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2237C>G",
"hgvs_p": "p.Ala746Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393554.1",
"strand": false,
"transcript": "NM_001406625.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1025,
"aa_ref": "A",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 2445,
"cds_end": null,
"cds_length": 3078,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000911224.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2228C>G",
"hgvs_p": "p.Ala743Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581283.1",
"strand": false,
"transcript": "ENST00000911224.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 847,
"aa_ref": "A",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8524,
"cdna_start": 2788,
"cds_end": null,
"cds_length": 2544,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001406626.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.1694C>G",
"hgvs_p": "p.Ala565Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393555.1",
"strand": false,
"transcript": "NM_001406626.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 846,
"aa_ref": "A",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8492,
"cdna_start": 2756,
"cds_end": null,
"cds_length": 2541,
"cds_start": 1691,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001406627.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.1691C>G",
"hgvs_p": "p.Ala564Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393556.1",
"strand": false,
"transcript": "NM_001406627.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 846,
"aa_ref": "A",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8521,
"cdna_start": 2785,
"cds_end": null,
"cds_length": 2541,
"cds_start": 1691,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001406628.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.1691C>G",
"hgvs_p": "p.Ala564Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393557.1",
"strand": false,
"transcript": "NM_001406628.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 813,
"aa_ref": "A",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8535,
"cdna_start": 2799,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1592,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001406629.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.1592C>G",
"hgvs_p": "p.Ala531Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393558.1",
"strand": false,
"transcript": "NM_001406629.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 813,
"aa_ref": "A",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8638,
"cdna_start": 2902,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1592,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001406630.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.1592C>G",
"hgvs_p": "p.Ala531Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393559.1",
"strand": false,
"transcript": "NM_001406630.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "A",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8718,
"cdna_start": 2982,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011518979.3",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "c.2645C>G",
"hgvs_p": "p.Ala882Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517281.1",
"strand": false,
"transcript": "XM_011518979.3",
"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": 8671,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000642261.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*424C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494743.2",
"strand": false,
"transcript": "ENST00000642261.2",
"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": 4739,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000642811.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*2415C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495554.1",
"strand": false,
"transcript": "ENST00000642811.1",
"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": 8554,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000643275.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*585C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495598.2",
"strand": false,
"transcript": "ENST00000643275.2",
"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": 8411,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000643625.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*387C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495546.2",
"strand": false,
"transcript": "ENST00000643625.2",
"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": 3762,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000644255.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*2412C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493608.1",
"strand": false,
"transcript": "ENST00000644255.1",
"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": 4106,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000644319.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.3020C>G",
"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": "ENST00000644319.1",
"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": 5997,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000644786.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.304C>G",
"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": "ENST00000644786.1",
"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": 7263,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000644882.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.1558C>G",
"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": "ENST00000644882.1",
"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": 5732,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000645901.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.3496C>G",
"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": "ENST00000645901.1",
"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": 9915,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000645904.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.4320C>G",
"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": "ENST00000645904.2",
"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": 3693,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000646391.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*2415C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494104.1",
"strand": false,
"transcript": "ENST00000646391.1",
"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": 6204,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000647262.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.3897C>G",
"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": "ENST00000647262.2",
"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": 3953,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000647279.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*1884C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494502.1",
"strand": false,
"transcript": "ENST00000647279.1",
"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": 7404,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000647534.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.1709C>G",
"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": "ENST00000647534.1",
"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": 4193,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000714459.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*1338C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519720.1",
"strand": false,
"transcript": "ENST00000714459.1",
"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": 4160,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000714460.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*2696C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519721.1",
"strand": false,
"transcript": "ENST00000714460.1",
"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": 4418,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000714461.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*2230C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519722.1",
"strand": false,
"transcript": "ENST00000714461.1",
"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": 3966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000714462.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*1521C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519723.1",
"strand": false,
"transcript": "ENST00000714462.1",
"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": 4006,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000714491.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*1623C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519745.1",
"strand": false,
"transcript": "ENST00000714491.1",
"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": 4750,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000714492.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*2562C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519746.1",
"strand": false,
"transcript": "ENST00000714492.1",
"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": 8431,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NR_176214.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.2695C>G",
"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_176214.1",
"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": 8593,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NR_176215.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.2862C>G",
"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_176215.1",
"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": 8460,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NR_176216.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.2729C>G",
"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_176216.1",
"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": 8590,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NR_176217.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.2859C>G",
"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_176217.1",
"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": 8594,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NR_176218.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.2858C>G",
"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_176218.1",
"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": 8671,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000642261.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*424C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494743.2",
"strand": false,
"transcript": "ENST00000642261.2",
"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": 4739,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000642811.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*2415C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495554.1",
"strand": false,
"transcript": "ENST00000642811.1",
"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": 8554,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000643275.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*585C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495598.2",
"strand": false,
"transcript": "ENST00000643275.2",
"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": 8411,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000643625.2",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*387C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495546.2",
"strand": false,
"transcript": "ENST00000643625.2",
"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": 3762,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000644255.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*2412C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493608.1",
"strand": false,
"transcript": "ENST00000644255.1",
"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": 3693,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000646391.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*2415C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494104.1",
"strand": false,
"transcript": "ENST00000646391.1",
"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": 3953,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000647279.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*1884C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494502.1",
"strand": false,
"transcript": "ENST00000647279.1",
"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": 4193,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000714459.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*1338C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519720.1",
"strand": false,
"transcript": "ENST00000714459.1",
"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": 4160,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000714460.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*2696C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519721.1",
"strand": false,
"transcript": "ENST00000714460.1",
"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": 4418,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000714461.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*2230C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519722.1",
"strand": false,
"transcript": "ENST00000714461.1",
"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": 3966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000714462.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*1521C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519723.1",
"strand": false,
"transcript": "ENST00000714462.1",
"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": 4006,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000714491.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*1623C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519745.1",
"strand": false,
"transcript": "ENST00000714491.1",
"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": 4750,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000714492.1",
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"hgvs_c": "n.*2562C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519746.1",
"strand": false,
"transcript": "ENST00000714492.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1554813594",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 12362,
"gene_symbol": "TSC1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": "Tuberous sclerosis 1",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.117,
"pos": 132897591,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.289,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000368.5"
}
]
}