[{"most_severe_consequence":"intron_variant","input":"17:g.41240915A>G","start":41240915,"id":"17:g.41240915A>G","strand":1,"allele_string":"A/G","end":41240915,"seq_region_name":"17","assembly_name":"GRCh37","colocated_variants":[{"phenotype_or_disease":1,"start":41240915,"strand":1,"allele_string":"A/G","var_synonyms":{"ClinVar":["RCV000191375","VCV000209430"]},"clin_sig":["benign"],"id":"rs8176163","clin_sig_allele":"G:benign","seq_region_name":"17","frequencies":{"G":{"gnomadg_asj":0.08367,"afr":0.003,"af":0.0218,"gnomadg_remaining":0.05298,"gnomadg_afr":0.01159,"gnomadg_eas":0.000578,"eas":0,"gnomadg_amr":0.03944,"gnomadg_nfe":0.06539,"eur":0.0596,"gnomadg":0.04547,"gnomadg_sas":0.01283,"gnomadg_mid":0.05102,"gnomadg_fin":0.0844,"gnomadg_ami":0.01645,"sas":0.0133,"amr":0.0461}},"end":41240915}],"transcript_consequences":[{"hgnc_id":1100,"impact":"MODIFIER","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","strand":-1,"biotype":"protein_coding","variant_allele":"G","consequence_terms":["intron_variant"],"gene_symbol_source":"HGNC","transcript_id":"ENST00000309486"},{"impact":"MODIFIER","hgnc_id":1100,"transcript_id":"ENST00000346315","gene_symbol_source":"HGNC","consequence_terms":["intron_variant"],"variant_allele":"G","biotype":"protein_coding","strand":-1,"gene_id":"ENSG00000012048","gene_symbol":"BRCA1"},{"strand":-1,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","biotype":"protein_coding","variant_allele":"G","transcript_id":"ENST00000351666","consequence_terms":["intron_variant"],"gene_symbol_source":"HGNC","hgnc_id":1100,"impact":"MODIFIER"},{"strand":-1,"gene_id":"ENSG00000012048","gene_symbol":"BRCA1","biotype":"protein_coding","variant_allele":"G","transcript_id":"ENST00000352993","consequence_terms":["intron_variant"],"gene_symbol_source":"HGNC","hgnc_id":1100,"impact":"MODIFIER"},{"hgnc_id":1100,"impact":"MODIFIER","biotype":"protein_coding","strand":-1,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","transcript_id":"ENST00000354071","gene_symbol_source":"HGNC","consequence_terms":["intron_variant"],"variant_allele":"G"},{"hgnc_id":1100,"impact":"MODIFIER","biotype":"protein_coding","gene_id":"ENSG00000012048","gene_symbol":"BRCA1","strand":-1,"consequence_terms":["intron_variant"],"gene_symbol_source":"HGNC","transcript_id":"ENST00000357654","variant_allele":"G"},{"hgnc_id":1100,"distance":4672,"impact":"MODIFIER","biotype":"non_stop_decay","strand":-1,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","transcript_id":"ENST00000412061","flags":["cds_start_NF"],"gene_symbol_source":"HGNC","consequence_terms":["downstream_gene_variant"],"variant_allele":"G"},{"variant_allele":"G","gene_symbol_source":"HGNC","consequence_terms":["intron_variant","NMD_transcript_variant"],"transcript_id":"ENST00000461221","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","strand":-1,"biotype":"nonsense_mediated_decay","impact":"MODIFIER","hgnc_id":1100},{"impact":"MODIFIER","hgnc_id":1100,"gene_symbol_source":"HGNC","consequence_terms":["intron_variant"],"transcript_id":"ENST00000461574","flags":["cds_start_NF","cds_end_NF"],"variant_allele":"G","biotype":"protein_coding","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","strand":-1},{"impact":"MODIFIER","distance":2200,"hgnc_id":1100,"variant_allele":"G","transcript_id":"ENST00000467274","gene_symbol_source":"HGNC","consequence_terms":["downstream_gene_variant"],"strand":-1,"gene_id":"ENSG00000012048","gene_symbol":"BRCA1","biotype":"retained_intron"},{"gene_symbol_source":"HGNC","consequence_terms":["intron_variant"],"transcript_id":"ENST00000468300","variant_allele":"G","biotype":"protein_coding","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","strand":-1,"impact":"MODIFIER","hgnc_id":1100},{"gene_id":"ENSG00000012048","gene_symbol":"BRCA1","strand":-1,"biotype":"protein_coding","variant_allele":"G","gene_symbol_source":"HGNC","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000470026","flags":["cds_end_NF"],"distance":4686,"hgnc_id":1100,"impact":"MODIFIER"},{"hgnc_id":1100,"impact":"MODIFIER","strand":-1,"gene_id":"ENSG00000012048","gene_symbol":"BRCA1","biotype":"protein_coding","variant_allele":"G","transcript_id":"ENST00000471181","gene_symbol_source":"HGNC","consequence_terms":["intron_variant"]},{"impact":"MODIFIER","hgnc_id":1100,"distance":4688,"consequence_terms":["downstream_gene_variant"],"gene_symbol_source":"HGNC","transcript_id":"ENST00000477152","flags":["cds_end_NF"],"variant_allele":"G","biotype":"protein_coding","gene_id":"ENSG00000012048","gene_symbol":"BRCA1","strand":-1},{"biotype":"protein_coding","strand":-1,"gene_id":"ENSG00000012048","gene_symbol":"BRCA1","flags":["cds_end_NF"],"transcript_id":"ENST00000478531","gene_symbol_source":"HGNC","consequence_terms":["intron_variant"],"variant_allele":"G","hgnc_id":1100,"impact":"MODIFIER"},{"hgnc_id":1100,"impact":"MODIFIER","biotype":"protein_coding","gene_id":"ENSG00000012048","gene_symbol":"BRCA1","strand":-1,"gene_symbol_source":"HGNC","consequence_terms":["intron_variant"],"transcript_id":"ENST00000484087","flags":["cds_start_NF","cds_end_NF"],"variant_allele":"G"},{"hgnc_id":1100,"impact":"MODIFIER","biotype":"protein_coding","strand":-1,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","transcript_id":"ENST00000487825","flags":["cds_start_NF","cds_end_NF"],"consequence_terms":["intron_variant"],"gene_symbol_source":"HGNC","variant_allele":"G"},{"hgnc_id":1100,"impact":"MODIFIER","biotype":"protein_coding","strand":-1,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","transcript_id":"ENST00000491747","gene_symbol_source":"HGNC","consequence_terms":["intron_variant"],"variant_allele":"G"},{"transcript_id":"ENST00000493795","gene_symbol_source":"HGNC","consequence_terms":["intron_variant"],"variant_allele":"G","biotype":"protein_coding","strand":-1,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","impact":"MODIFIER","hgnc_id":1100},{"impact":"MODIFIER","hgnc_id":1100,"variant_allele":"G","gene_symbol_source":"HGNC","consequence_terms":["intron_variant"],"transcript_id":"ENST00000493919","flags":["cds_end_NF"],"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","strand":-1,"biotype":"protein_coding"},{"hgnc_id":1100,"impact":"MODIFIER","biotype":"protein_coding","strand":-1,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","transcript_id":"ENST00000586385","gene_symbol_source":"HGNC","consequence_terms":["intron_variant"],"variant_allele":"G"},{"biotype":"protein_coding","strand":-1,"gene_id":"ENSG00000012048","gene_symbol":"BRCA1","transcript_id":"ENST00000591534","consequence_terms":["intron_variant"],"gene_symbol_source":"HGNC","variant_allele":"G","hgnc_id":1100,"impact":"MODIFIER"},{"transcript_id":"ENST00000591849","gene_symbol_source":"HGNC","consequence_terms":["intron_variant"],"variant_allele":"G","biotype":"protein_coding","strand":-1,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","impact":"MODIFIER","hgnc_id":1100}]}]