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ruslan-forostianov/curl_external_results_sorted.json

Created July 14, 2022 15:51
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curl_external_results_sorted.json
[
{
"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": "COSV52675795",
"phenotype_or_disease": 1,
"seq_region_name": "17",
"somatic": 1,
"start": 7578388,
"strand": 1,
"var_synonyms": {
"COSMIC": [
"COSM10738"
]
}
},
{
"allele_string": "COSMIC_MUTATION",
"end": 7578388,
"id": "COSV52676870",
"phenotype_or_disease": 1,
"seq_region_name": "17",
"somatic": 1,
"start": 7578388,
"strand": 1,
"var_synonyms": {
"COSMIC": [
"COSM45046"
]
}
},
{
"allele_string": "COSMIC_MUTATION",
"end": 7578388,
"id": "COSV52730435",
"phenotype_or_disease": 1,
"seq_region_name": "17",
"somatic": 1,
"start": 7578388,
"strand": 1,
"var_synonyms": {
"COSMIC": [
"COSM44152"
]
}
},
{
"allele_string": "COSMIC_MUTATION",
"end": 7578388,
"id": "COSV53567603",
"phenotype_or_disease": 1,
"seq_region_name": "17",
"somatic": 1,
"start": 7578388,
"strand": 1,
"var_synonyms": {
"COSMIC": [
"COSM5706587"
]
}
},
{
"allele_string": "C/A/G/T",
"clin_sig": [
"uncertain_significance",
"likely_pathogenic",
"pathogenic",
"risk_factor"
],
"clin_sig_allele": "A:risk_factor;T:pathogenic/likely_pathogenic;T:likely_pathogenic;A:uncertain_significance;G:likely_pathogenic;G:pathogenic",
"end": 7578388,
"id": "rs397514495",
"phenotype_or_disease": 1,
"pubmed": [
8308926,
31060593
],
"seq_region_name": "17",
"start": 7578388,
"strand": 1,
"var_synonyms": {
"ClinVar": [
"RCV001206963",
"RCV001024094",
"VCV000825729",
"RCV000989718",
"RCV000168247",
"RCV000131382",
"VCV000142320",
"RCV000255239",
"RCV000032610",
"VCV000039420",
"RCV000692266",
"RCV000576528"
],
"OMIM": [
191170.0042
],
"UniProt": [
"VAR_005937"
]
}
}
],
"end": 7578388,
"id": "17:g.7578388C>G",
"input": "17:g.7578388C>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",
"name": "PF00870"
},
{
"db": "PANTHER",
"name": "PTHR11447"
},
{
"db": "PANTHER",
"name": "PTHR11447"
},
{
"db": "Superfamily",
"name": "SSF49417"
}
],
"exon": "5/11",
"gene_id": "ENSG00000141510",
"gene_symbol": "TP53",
"gene_symbol_source": "HGNC",
"hgnc_id": 11998,
"hgvsc": "ENST00000269305.4:c.542G>C",
"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,
"transcript_id": "ENST00000269305",
"variant_allele": "G"
},
{
"amino_acids": "R/P",
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"cdna_start": 542,
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"codons": "cGc/cCc",
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],
"domains": [
{
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},
{
"db": "Pfam",
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},
{
"db": "PANTHER",
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},
{
"db": "PANTHER",
"name": "PTHR11447"
},
{
"db": "Superfamily",
"name": "SSF49417"
}
],
"exon": "4/9",
"gene_id": "ENSG00000141510",
"gene_symbol": "TP53",
"gene_symbol_source": "HGNC",
"hgnc_id": 11998,
"hgvsc": "ENST00000359597.4:c.542G>C",
"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",
"variant_allele": "G"
},
{
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"codons": "cGc/cCc",
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],
"domains": [
{
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"name": 2
},
{
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},
{
"db": "PANTHER",
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},
{
"db": "PANTHER",
"name": "PTHR11447"
},
{
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}
],
"exon": "4/7",
"gene_id": "ENSG00000141510",
"gene_symbol": "TP53",
"gene_symbol_source": "HGNC",
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"hgvsc": "ENST00000413465.2:c.542G>C",
"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",
"variant_allele": "G"
},
{
"amino_acids": "R/P",
"biotype": "protein_coding",
"ccds": "CCDS45606.1",
"cdna_end": 675,
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{
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},
{
"db": "PANTHER",
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{
"db": "PANTHER",
"name": "PTHR11447"
},
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}
],
"exon": "5/12",
"gene_id": "ENSG00000141510",
"gene_symbol": "TP53",
"gene_symbol_source": "HGNC",
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"hgvsc": "ENST00000420246.2:c.542G>C",
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"impact": "MODERATE",
"polyphen_prediction": "probably_damaging",
"polyphen_score": 0.967,
"protein_end": 181,
"protein_id": "ENSP00000391127",
"protein_start": 181,
"refseq_transcript_ids": [
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"NM_001276696.1"
],
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"strand": -1,
"transcript_id": "ENST00000420246",
"variant_allele": "G"
},
{
"amino_acids": "R/P",
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{
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{
"db": "PANTHER",
"name": "PTHR11447"
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}
],
"exon": "5/11",
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"protein_id": "ENSP00000391478",
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},
{
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{
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},
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}
],
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"impact": "MODERATE",
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"protein_id": "ENSP00000398846",
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],
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"variant_allele": "G"
},
{
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],
"distance": 159,
"flags": [
"cds_end_NF"
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"gene_id": "ENSG00000141510",
"gene_symbol": "TP53",
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"impact": "MODIFIER",
"protein_id": "ENSP00000426252",
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"transcript_id": "ENST00000503591",
"variant_allele": "G"
},
{
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],
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},
{
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],
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"gene_id": "ENSG00000141510",
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},
{
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"transcript_id": "ENST00000505014",
"variant_allele": "G"
},
{
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],
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"flags": [
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],
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},
{
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],
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{
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{
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{
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}
],
"exon": "2/6",
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],
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},
{
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],
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"transcript_id": "ENST00000510385",
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},
{
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],
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{
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},
{
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"name": "PTHR11447"
},
{
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{
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}
],
"exon": "4/6",
"flags": [
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],
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"impact": "MODERATE",
"polyphen_prediction": "probably_damaging",
"polyphen_score": 0.961,
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"protein_id": "ENSP00000423862",
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},
{
"biotype": "processed_transcript",
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"impact": "MODIFIER",
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"transcript_id": "ENST00000574684",
"variant_allele": "G"
},
{
"biotype": "protein_coding",
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],
"distance": 1483,
"flags": [
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],
"gene_id": "ENSG00000141510",
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"gene_symbol_source": "HGNC",
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"impact": "MODIFIER",
"protein_id": "ENSP00000458393",
"strand": -1,
"transcript_id": "ENST00000576024",
"variant_allele": "G"
},
{
"biotype": "protein_coding",
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],
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"flags": [
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],
"gene_id": "ENSG00000141510",
"gene_symbol": "TP53",
"gene_symbol_source": "HGNC",
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"impact": "MODIFIER",
"protein_id": "ENSP00000473895",
"strand": -1,
"transcript_id": "ENST00000604348",
"variant_allele": "G"
}
]
}
]
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