Created
July 14, 2022 15:48
-
-
Save ruslan-forostianov/07f0c390bf92132243828a7b0a404248 to your computer and use it in GitHub Desktop.
This file contains bidirectional Unicode text that may be interpreted or compiled differently than what appears below. To review, open the file in an editor that reveals hidden Unicode characters.
Learn more about bidirectional Unicode characters
[ | |
{ | |
"allele_string": "C/G", | |
"assembly_name": "GRCh37", | |
"colocated_variants": [ | |
{ | |
"allele_string": "HGMD_MUTATION", | |
"end": 7578388, | |
"id": "CM056067", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "HGMD_MUTATION", | |
"end": 7578388, | |
"id": "CM920671", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "HGMD_MUTATION", | |
"end": 7578388, | |
"id": "CM942120", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM10738", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM1386797", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM1386798", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM1386799", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM1386800", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM3388201", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM3388202", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM44152", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM45046", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM4947132", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM4947133", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM5706587", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM5706588", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM5706589", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM5706590", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM5706591", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM5706592", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM5706593", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM6474267", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM6474268", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM6474269", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM6474270", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM6474271", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM6474272", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM99658", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM99659", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM99660", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "COSMIC_MUTATION", | |
"end": 7578388, | |
"id": "COSM99661", | |
"phenotype_or_disease": 1, | |
"seq_region_name": "17", | |
"somatic": 1, | |
"start": 7578388, | |
"strand": 1 | |
}, | |
{ | |
"allele_string": "C/G", | |
"end": 7578388, | |
"id": "TP53_g.12530G>C", | |
"seq_region_name": "17", | |
"start": 7578388, | |
"strand": 1 | |
} | |
], | |
"end": 7578388, | |
"id": "17:7578388-7578388:1/G", | |
"input": "17:7578388-7578388:1/G", | |
"most_severe_consequence": "missense_variant", | |
"seq_region_name": "17", | |
"start": 7578388, | |
"strand": 1, | |
"transcript_consequences": [ | |
{ | |
"amino_acids": "R/P", | |
"biotype": "protein_coding", | |
"canonical": 1, | |
"ccds": "CCDS11118.1", | |
"cdna_end": 732, | |
"cdna_start": 732, | |
"cds_end": 542, | |
"cds_start": 542, | |
"codons": "cGc/cCc", | |
"consequence_terms": [ | |
"missense_variant" | |
], | |
"domains": [ | |
{ | |
"db": "Gene3D", | |
"name": 2 | |
}, | |
{ | |
"db": "Pfam_domain", | |
"name": "PF00870" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "Superfamily_domains", | |
"name": "SSF49417" | |
} | |
], | |
"exon": "5/11", | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsc": "ENST00000269305.4:c.542G>C", | |
"hgvsg": "17:g.7578388C>G", | |
"hgvsp": "ENSP00000269305.4:p.Arg181Pro", | |
"impact": "MODERATE", | |
"polyphen_prediction": "probably_damaging", | |
"polyphen_score": 0.973, | |
"protein_end": 181, | |
"protein_id": "ENSP00000269305", | |
"protein_start": 181, | |
"refseq_transcript_ids": [ | |
"NM_001126112.2", | |
"NM_001276761.1", | |
"NM_001276760.1", | |
"NM_000546.5", | |
"NM_001126118.1" | |
], | |
"sift_prediction": "deleterious", | |
"sift_score": 0.02, | |
"strand": -1, | |
"swissprot": [ | |
"P04637" | |
], | |
"transcript_id": "ENST00000269305", | |
"trembl": [ | |
"S5LQU8", | |
"Q761V2", | |
"Q6IT77", | |
"Q1HGV1", | |
"Q0PKT5", | |
"L0ES54", | |
"L0EQ05", | |
"K7PPA8", | |
"H2EHT1", | |
"G4Y083", | |
"E9PCY9", | |
"E7ESS1", | |
"E7EMR6", | |
"B5AKF6", | |
"B4DNI2", | |
"A4GWD0", | |
"A4GWB8", | |
"A4GWB5", | |
"A4GW97", | |
"A4GW76", | |
"A4GW75", | |
"A4GW74", | |
"A4GW67", | |
"A2I9Z1", | |
"A2I9Z0" | |
], | |
"uniparc": [ | |
"UPI000002ED67" | |
], | |
"variant_allele": "G" | |
}, | |
{ | |
"amino_acids": "R/P", | |
"biotype": "protein_coding", | |
"cdna_end": 542, | |
"cdna_start": 542, | |
"cds_end": 542, | |
"cds_start": 542, | |
"codons": "cGc/cCc", | |
"consequence_terms": [ | |
"missense_variant" | |
], | |
"domains": [ | |
{ | |
"db": "Gene3D", | |
"name": 2 | |
}, | |
{ | |
"db": "Pfam_domain", | |
"name": "PF00870" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "Superfamily_domains", | |
"name": "SSF49417" | |
} | |
], | |
"exon": "4/9", | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsc": "ENST00000359597.4:c.542G>C", | |
"hgvsg": "17:g.7578388C>G", | |
"hgvsp": "ENSP00000352610.4:p.Arg181Pro", | |
"impact": "MODERATE", | |
"polyphen_prediction": "probably_damaging", | |
"polyphen_score": 0.992, | |
"protein_end": 181, | |
"protein_id": "ENSP00000352610", | |
"protein_start": 181, | |
"sift_prediction": "tolerated", | |
"sift_score": 0.1, | |
"strand": -1, | |
"transcript_id": "ENST00000359597", | |
"trembl": [ | |
"S5LQU8", | |
"Q761V2", | |
"Q6IT77", | |
"Q1HGV1", | |
"Q0PKT5", | |
"L0ES54", | |
"L0EQ05", | |
"J3KP33", | |
"G4Y083", | |
"E9PCY9", | |
"E7ESS1", | |
"E7EMR6", | |
"B5AKF6", | |
"A4GWD0", | |
"A4GWB8", | |
"A4GWB5", | |
"A4GW97", | |
"A4GW76", | |
"A4GW75", | |
"A4GW74", | |
"A4GW67", | |
"A2I9Z1", | |
"A2I9Z0" | |
], | |
"uniparc": [ | |
"UPI0002065363" | |
], | |
"variant_allele": "G" | |
}, | |
{ | |
"amino_acids": "R/P", | |
"biotype": "protein_coding", | |
"cdna_end": 542, | |
"cdna_start": 542, | |
"cds_end": 542, | |
"cds_start": 542, | |
"codons": "cGc/cCc", | |
"consequence_terms": [ | |
"missense_variant" | |
], | |
"domains": [ | |
{ | |
"db": "Gene3D", | |
"name": 2 | |
}, | |
{ | |
"db": "Pfam_domain", | |
"name": "PF00870" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "Superfamily_domains", | |
"name": "SSF49417" | |
} | |
], | |
"exon": "4/7", | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsc": "ENST00000413465.2:c.542G>C", | |
"hgvsg": "17:g.7578388C>G", | |
"hgvsp": "ENSP00000410739.2:p.Arg181Pro", | |
"impact": "MODERATE", | |
"polyphen_prediction": "probably_damaging", | |
"polyphen_score": 0.992, | |
"protein_end": 181, | |
"protein_id": "ENSP00000410739", | |
"protein_start": 181, | |
"sift_prediction": "tolerated", | |
"sift_score": 0.19, | |
"strand": -1, | |
"transcript_id": "ENST00000413465", | |
"trembl": [ | |
"Q761V2", | |
"Q6IT77", | |
"Q1HGV1", | |
"Q0PKT5", | |
"L0ES54", | |
"G4Y083", | |
"E9PCY9", | |
"E7EQX7", | |
"E7EMR6", | |
"B5AKF6", | |
"A4GWD0", | |
"A4GWB8", | |
"A4GWB5", | |
"A2I9Z0" | |
], | |
"uniparc": [ | |
"UPI0001AE664F" | |
], | |
"variant_allele": "G" | |
}, | |
{ | |
"amino_acids": "R/P", | |
"biotype": "protein_coding", | |
"ccds": "CCDS45606.1", | |
"cdna_end": 675, | |
"cdna_start": 675, | |
"cds_end": 542, | |
"cds_start": 542, | |
"codons": "cGc/cCc", | |
"consequence_terms": [ | |
"missense_variant" | |
], | |
"domains": [ | |
{ | |
"db": "Gene3D", | |
"name": 2 | |
}, | |
{ | |
"db": "Pfam_domain", | |
"name": "PF00870" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "Superfamily_domains", | |
"name": "SSF49417" | |
} | |
], | |
"exon": "5/12", | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsc": "ENST00000420246.2:c.542G>C", | |
"hgvsg": "17:g.7578388C>G", | |
"hgvsp": "ENSP00000391127.2:p.Arg181Pro", | |
"impact": "MODERATE", | |
"polyphen_prediction": "probably_damaging", | |
"polyphen_score": 0.967, | |
"protein_end": 181, | |
"protein_id": "ENSP00000391127", | |
"protein_start": 181, | |
"refseq_transcript_ids": [ | |
"NM_001126114.2", | |
"NM_001276696.1" | |
], | |
"sift_prediction": "tolerated", | |
"sift_score": 0.11, | |
"strand": -1, | |
"swissprot": [ | |
"P04637" | |
], | |
"transcript_id": "ENST00000420246", | |
"trembl": [ | |
"S5LQU8", | |
"Q761V2", | |
"Q6IT77", | |
"Q1HGV1", | |
"Q0PKT5", | |
"L0ES54", | |
"L0EQ05", | |
"G4Y083", | |
"E9PCY9", | |
"E7ESS1", | |
"E7EMR6", | |
"B5AKF6", | |
"A4GWD0", | |
"A4GWB8", | |
"A4GWB5", | |
"A4GW97", | |
"A4GW76", | |
"A4GW75", | |
"A4GW74", | |
"A4GW67", | |
"A2I9Z1", | |
"A2I9Z0" | |
], | |
"uniparc": [ | |
"UPI0000456A12" | |
], | |
"variant_allele": "G" | |
}, | |
{ | |
"amino_acids": "R/P", | |
"biotype": "protein_coding", | |
"ccds": "CCDS11118.1", | |
"cdna_end": 678, | |
"cdna_start": 678, | |
"cds_end": 542, | |
"cds_start": 542, | |
"codons": "cGc/cCc", | |
"consequence_terms": [ | |
"missense_variant" | |
], | |
"domains": [ | |
{ | |
"db": "Gene3D", | |
"name": 2 | |
}, | |
{ | |
"db": "Pfam_domain", | |
"name": "PF00870" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "Superfamily_domains", | |
"name": "SSF49417" | |
} | |
], | |
"exon": "5/11", | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsc": "ENST00000445888.2:c.542G>C", | |
"hgvsg": "17:g.7578388C>G", | |
"hgvsp": "ENSP00000391478.2:p.Arg181Pro", | |
"impact": "MODERATE", | |
"polyphen_prediction": "probably_damaging", | |
"polyphen_score": 0.973, | |
"protein_end": 181, | |
"protein_id": "ENSP00000391478", | |
"protein_start": 181, | |
"sift_prediction": "deleterious", | |
"sift_score": 0.02, | |
"strand": -1, | |
"swissprot": [ | |
"P04637" | |
], | |
"transcript_id": "ENST00000445888", | |
"trembl": [ | |
"S5LQU8", | |
"Q761V2", | |
"Q6IT77", | |
"Q1HGV1", | |
"Q0PKT5", | |
"L0ES54", | |
"L0EQ05", | |
"K7PPA8", | |
"H2EHT1", | |
"G4Y083", | |
"E9PCY9", | |
"E7ESS1", | |
"E7EMR6", | |
"B5AKF6", | |
"B4DNI2", | |
"A4GWD0", | |
"A4GWB8", | |
"A4GWB5", | |
"A4GW97", | |
"A4GW76", | |
"A4GW75", | |
"A4GW74", | |
"A4GW67", | |
"A2I9Z1", | |
"A2I9Z0" | |
], | |
"uniparc": [ | |
"UPI000002ED67" | |
], | |
"variant_allele": "G" | |
}, | |
{ | |
"amino_acids": "R/P", | |
"biotype": "protein_coding", | |
"ccds": "CCDS45605.1", | |
"cdna_end": 675, | |
"cdna_start": 675, | |
"cds_end": 542, | |
"cds_start": 542, | |
"codons": "cGc/cCc", | |
"consequence_terms": [ | |
"missense_variant" | |
], | |
"domains": [ | |
{ | |
"db": "Gene3D", | |
"name": 2 | |
}, | |
{ | |
"db": "Pfam_domain", | |
"name": "PF00870" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "Superfamily_domains", | |
"name": "SSF49417" | |
} | |
], | |
"exon": "5/12", | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsc": "ENST00000455263.2:c.542G>C", | |
"hgvsg": "17:g.7578388C>G", | |
"hgvsp": "ENSP00000398846.2:p.Arg181Pro", | |
"impact": "MODERATE", | |
"polyphen_prediction": "possibly_damaging", | |
"polyphen_score": 0.8, | |
"protein_end": 181, | |
"protein_id": "ENSP00000398846", | |
"protein_start": 181, | |
"refseq_transcript_ids": [ | |
"NM_001276695.1", | |
"NM_001126113.2" | |
], | |
"sift_prediction": "tolerated", | |
"sift_score": 0.07, | |
"strand": -1, | |
"swissprot": [ | |
"P04637" | |
], | |
"transcript_id": "ENST00000455263", | |
"trembl": [ | |
"S5LQU8", | |
"Q761V2", | |
"Q6IT77", | |
"Q1HGV1", | |
"Q0PKT5", | |
"L0ES54", | |
"L0EQ05", | |
"G4Y083", | |
"E9PCY9", | |
"E7ESS1", | |
"E7EMR6", | |
"B5AKF6", | |
"A4GWD0", | |
"A4GWB8", | |
"A4GWB5", | |
"A4GW97", | |
"A4GW76", | |
"A4GW75", | |
"A4GW74", | |
"A4GW67", | |
"A2I9Z1", | |
"A2I9Z0" | |
], | |
"uniparc": [ | |
"UPI00005B7310" | |
], | |
"variant_allele": "G" | |
}, | |
{ | |
"biotype": "protein_coding", | |
"consequence_terms": [ | |
"downstream_gene_variant" | |
], | |
"distance": 159, | |
"flags": [ | |
"cds_end_NF" | |
], | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsg": "17:g.7578388C>G", | |
"impact": "MODIFIER", | |
"protein_id": "ENSP00000426252", | |
"strand": -1, | |
"transcript_id": "ENST00000503591", | |
"trembl": [ | |
"Q6IT77", | |
"Q0PKT5", | |
"L0ES54", | |
"G4Y083", | |
"E9PCY9" | |
], | |
"uniparc": [ | |
"UPI0001D3B066" | |
], | |
"variant_allele": "G" | |
}, | |
{ | |
"biotype": "retained_intron", | |
"cdna_end": 424, | |
"cdna_start": 424, | |
"consequence_terms": [ | |
"non_coding_transcript_exon_variant" | |
], | |
"exon": "1/8", | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsc": "ENST00000504290.1:n.424G>C", | |
"hgvsg": "17:g.7578388C>G", | |
"impact": "MODIFIER", | |
"strand": -1, | |
"transcript_id": "ENST00000504290", | |
"variant_allele": "G" | |
}, | |
{ | |
"biotype": "retained_intron", | |
"cdna_end": 424, | |
"cdna_start": 424, | |
"consequence_terms": [ | |
"non_coding_transcript_exon_variant" | |
], | |
"exon": "1/7", | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsc": "ENST00000504937.1:n.424G>C", | |
"hgvsg": "17:g.7578388C>G", | |
"impact": "MODIFIER", | |
"strand": -1, | |
"transcript_id": "ENST00000504937", | |
"variant_allele": "G" | |
}, | |
{ | |
"biotype": "retained_intron", | |
"cdna_end": 798, | |
"cdna_start": 798, | |
"consequence_terms": [ | |
"non_coding_transcript_exon_variant" | |
], | |
"exon": "4/5", | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsc": "ENST00000505014.1:n.798G>C", | |
"hgvsg": "17:g.7578388C>G", | |
"impact": "MODIFIER", | |
"strand": -1, | |
"transcript_id": "ENST00000505014", | |
"variant_allele": "G" | |
}, | |
{ | |
"biotype": "protein_coding", | |
"consequence_terms": [ | |
"downstream_gene_variant" | |
], | |
"distance": 46, | |
"flags": [ | |
"cds_end_NF" | |
], | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsg": "17:g.7578388C>G", | |
"impact": "MODIFIER", | |
"protein_id": "ENSP00000424104", | |
"strand": -1, | |
"transcript_id": "ENST00000508793", | |
"trembl": [ | |
"Q6IT77", | |
"Q0PKT5", | |
"L0ES54", | |
"G4Y083", | |
"E9PCY9", | |
"E7EMR6" | |
], | |
"uniparc": [ | |
"UPI0001D3B065" | |
], | |
"variant_allele": "G" | |
}, | |
{ | |
"amino_acids": "R/P", | |
"biotype": "protein_coding", | |
"cdna_end": 278, | |
"cdna_start": 278, | |
"cds_end": 146, | |
"cds_start": 146, | |
"codons": "cGc/cCc", | |
"consequence_terms": [ | |
"missense_variant" | |
], | |
"domains": [ | |
{ | |
"db": "Gene3D", | |
"name": 2 | |
}, | |
{ | |
"db": "Pfam_domain", | |
"name": "PF00870" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "Superfamily_domains", | |
"name": "SSF49417" | |
} | |
], | |
"exon": "2/6", | |
"flags": [ | |
"cds_end_NF" | |
], | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsc": "ENST00000509690.1:c.146G>C", | |
"hgvsg": "17:g.7578388C>G", | |
"hgvsp": "ENSP00000425104.1:p.Arg49Pro", | |
"impact": "MODERATE", | |
"polyphen_prediction": "probably_damaging", | |
"polyphen_score": 0.973, | |
"protein_end": 49, | |
"protein_id": "ENSP00000425104", | |
"protein_start": 49, | |
"sift_prediction": "tolerated", | |
"sift_score": 0.26, | |
"strand": -1, | |
"transcript_id": "ENST00000509690", | |
"trembl": [ | |
"S5LQU8", | |
"Q1HGV1", | |
"L0EQ05", | |
"E7ESS1", | |
"B5AKF6", | |
"A4GW97", | |
"A4GW76", | |
"A4GW75", | |
"A4GW74", | |
"A4GW67", | |
"A2I9Z1", | |
"A2I9Z0" | |
], | |
"uniparc": [ | |
"UPI0001D3B064" | |
], | |
"variant_allele": "G" | |
}, | |
{ | |
"biotype": "retained_intron", | |
"cdna_end": 424, | |
"cdna_start": 424, | |
"consequence_terms": [ | |
"non_coding_transcript_exon_variant" | |
], | |
"exon": "1/8", | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsc": "ENST00000510385.1:n.424G>C", | |
"hgvsg": "17:g.7578388C>G", | |
"impact": "MODIFIER", | |
"strand": -1, | |
"transcript_id": "ENST00000510385", | |
"variant_allele": "G" | |
}, | |
{ | |
"amino_acids": "R/P", | |
"biotype": "protein_coding", | |
"cdna_end": 342, | |
"cdna_start": 342, | |
"cds_end": 263, | |
"cds_start": 263, | |
"codons": "cGc/cCc", | |
"consequence_terms": [ | |
"missense_variant" | |
], | |
"domains": [ | |
{ | |
"db": "Gene3D", | |
"name": 2 | |
}, | |
{ | |
"db": "Pfam_domain", | |
"name": "PF00870" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "hmmpanther", | |
"name": "PTHR11447" | |
}, | |
{ | |
"db": "Superfamily_domains", | |
"name": "SSF49417" | |
} | |
], | |
"exon": "4/6", | |
"flags": [ | |
"cds_end_NF" | |
], | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsc": "ENST00000514944.1:c.263G>C", | |
"hgvsg": "17:g.7578388C>G", | |
"hgvsp": "ENSP00000423862.1:p.Arg88Pro", | |
"impact": "MODERATE", | |
"polyphen_prediction": "probably_damaging", | |
"polyphen_score": 0.961, | |
"protein_end": 88, | |
"protein_id": "ENSP00000423862", | |
"protein_start": 88, | |
"sift_prediction": "tolerated", | |
"sift_score": 0.19, | |
"strand": -1, | |
"transcript_id": "ENST00000514944", | |
"trembl": [ | |
"Q761V2", | |
"Q1HGV1", | |
"E9PFT5", | |
"A4GWD0", | |
"A4GWB8", | |
"A4GWB5" | |
], | |
"uniparc": [ | |
"UPI00015DFAB7" | |
], | |
"variant_allele": "G" | |
}, | |
{ | |
"biotype": "processed_transcript", | |
"cdna_end": 50, | |
"cdna_start": 50, | |
"consequence_terms": [ | |
"non_coding_transcript_exon_variant" | |
], | |
"exon": "1/2", | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsc": "ENST00000574684.1:n.50G>C", | |
"hgvsg": "17:g.7578388C>G", | |
"impact": "MODIFIER", | |
"strand": -1, | |
"transcript_id": "ENST00000574684", | |
"variant_allele": "G" | |
}, | |
{ | |
"biotype": "protein_coding", | |
"consequence_terms": [ | |
"upstream_gene_variant" | |
], | |
"distance": 1483, | |
"flags": [ | |
"cds_start_NF" | |
], | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsg": "17:g.7578388C>G", | |
"impact": "MODIFIER", | |
"protein_id": "ENSP00000458393", | |
"strand": -1, | |
"transcript_id": "ENST00000576024", | |
"uniparc": [ | |
"UPI00025A2CF1" | |
], | |
"variant_allele": "G" | |
}, | |
{ | |
"biotype": "protein_coding", | |
"consequence_terms": [ | |
"downstream_gene_variant" | |
], | |
"distance": 92, | |
"flags": [ | |
"cds_end_NF" | |
], | |
"gene_id": "ENSG00000141510", | |
"gene_pheno": 1, | |
"gene_symbol": "TP53", | |
"gene_symbol_source": "HGNC", | |
"hgnc_id": 11998, | |
"hgvsg": "17:g.7578388C>G", | |
"impact": "MODIFIER", | |
"protein_id": "ENSP00000473895", | |
"strand": -1, | |
"transcript_id": "ENST00000604348", | |
"trembl": [ | |
"S4R334", | |
"Q6IT77", | |
"Q0PKT5", | |
"L0ES54", | |
"G4Y083" | |
], | |
"uniparc": [ | |
"UPI00033351E6" | |
], | |
"variant_allele": "G" | |
} | |
], | |
"variant_class": "SNV" | |
} | |
] |
Sign up for free
to join this conversation on GitHub.
Already have an account?
Sign in to comment