[{"id":"NM_153700.2:c.4976A>C","end":43600551,"start":43600551,"strand":-1,"transcript_consequences":[{"transcript_id":"ENST00000300283","consequence_terms":["downstream_gene_variant"],"hgnc_id":"HGNC:1995","variant_allele":"C","gene_symbol":"CKMT1B","gene_id":"ENSG00000237289","biotype":"protein_coding","gene_symbol_source":"HGNC","impact":"MODIFIER","strand":1,"distance":1143},{"distance":1992,"gene_symbol_source":"HGNC","impact":"MODIFIER","strand":1,"variant_allele":"C","gene_symbol":"RNU6-554P","gene_id":"ENSG00000222398","biotype":"snRNA","consequence_terms":["upstream_gene_variant"],"transcript_id":"ENST00000410466","hgnc_id":"HGNC:47517"},{"impact":"MODIFIER","strand":1,"gene_symbol_source":"HGNC","hgnc_id":"HGNC:1995","consequence_terms":["intron_variant","non_coding_transcript_variant"],"transcript_id":"ENST00000411560","gene_id":"ENSG00000237289","biotype":"protein_coding_CDS_not_defined","variant_allele":"C","gene_symbol":"CKMT1B"},{"variant_allele":"C","gene_symbol":"STRC","cdna_start":4995,"biotype":"nonsense_mediated_decay","gene_id":"ENSG00000242866","consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"],"transcript_id":"ENST00000428650","hgnc_id":"HGNC:16035","cdna_end":4995,"gene_symbol_source":"HGNC","impact":"MODIFIER","strand":-1},{"distance":4543,"impact":"MODIFIER","strand":1,"gene_symbol_source":"HGNC","gene_id":"ENSG00000237289","biotype":"nonsense_mediated_decay","gene_symbol":"CKMT1B","variant_allele":"C","hgnc_id":"HGNC:1995","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000428981"},{"distance":1145,"strand":1,"impact":"MODIFIER","gene_symbol_source":"HGNC","gene_id":"ENSG00000237289","biotype":"nonsense_mediated_decay","gene_symbol":"CKMT1B","variant_allele":"C","hgnc_id":"HGNC:1995","transcript_id":"ENST00000437534","consequence_terms":["downstream_gene_variant"]},{"impact":"MODIFIER","strand":-1,"gene_symbol_source":"HGNC","cdna_end":3900,"hgnc_id":"HGNC:16035","transcript_id":"ENST00000440125","consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"],"biotype":"nonsense_mediated_decay","gene_id":"ENSG00000242866","gene_symbol":"STRC","variant_allele":"C","cdna_start":3900},{"distance":1145,"gene_symbol_source":"HGNC","strand":1,"impact":"MODIFIER","gene_symbol":"CKMT1B","variant_allele":"C","biotype":"protein_coding","gene_id":"ENSG00000237289","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000441322","hgnc_id":"HGNC:1995"},{"cdna_end":2096,"gene_symbol_source":"HGNC","impact":"MODIFIER","strand":-1,"gene_symbol":"STRC","variant_allele":"C","cdna_start":2096,"gene_id":"ENSG00000242866","biotype":"retained_intron","transcript_id":"ENST00000448437","consequence_terms":["non_coding_transcript_exon_variant"],"hgnc_id":"HGNC:16035"},{"protein_start":1659,"sift_score":0,"cdna_start":5054,"gene_symbol":"STRC","variant_allele":"C","codons":"gAa/gCa","biotype":"protein_coding","gene_id":"ENSG00000242866","transcript_id":"ENST00000450892","hgnc_id":"HGNC:16035","cdna_end":5054,"protein_end":1659,"cds_start":4976,"strand":-1,"sift_prediction":"deleterious","consequence_terms":["missense_variant"],"polyphen_prediction":"possibly_damaging","amino_acids":"E/A","cds_end":4976,"polyphen_score":0.807,"gene_symbol_source":"HGNC","impact":"MODERATE"},{"hgnc_id":"HGNC:1995","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000453733","flags":["cds_end_NF"],"biotype":"protein_coding","gene_id":"ENSG00000237289","gene_symbol":"CKMT1B","variant_allele":"C","impact":"MODIFIER","strand":1,"gene_symbol_source":"HGNC","distance":4624},{"gene_symbol_source":"HGNC","impact":"MODIFIER","strand":1,"distance":4287,"consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000453782","flags":["cds_end_NF"],"hgnc_id":"HGNC:1995","variant_allele":"C","gene_symbol":"CKMT1B","gene_id":"ENSG00000237289","biotype":"protein_coding"},{"distance":4153,"gene_symbol_source":"HGNC","impact":"MODIFIER","strand":-1,"variant_allele":"C","gene_symbol":"STRC","gene_id":"ENSG00000242866","biotype":"nonsense_mediated_decay","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000455136","flags":["cds_start_NF"],"hgnc_id":"HGNC:16035"},{"impact":"MODIFIER","strand":-1,"gene_symbol_source":"HGNC","distance":12,"hgnc_id":"HGNC:16035","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000460952","biotype":"retained_intron","gene_id":"ENSG00000242866","variant_allele":"C","gene_symbol":"STRC"},{"gene_id":"ENSG00000242866","biotype":"retained_intron","gene_symbol":"STRC","variant_allele":"C","cdna_start":2930,"hgnc_id":"HGNC:16035","transcript_id":"ENST00000471703","consequence_terms":["non_coding_transcript_exon_variant"],"cdna_end":2930,"strand":-1,"impact":"MODIFIER","gene_symbol_source":"HGNC"},{"hgnc_id":"HGNC:16035","consequence_terms":["non_coding_transcript_exon_variant"],"transcript_id":"ENST00000485556","gene_id":"ENSG00000242866","biotype":"retained_intron","cdna_start":3831,"gene_symbol":"STRC","variant_allele":"C","strand":-1,"impact":"MODIFIER","gene_symbol_source":"HGNC","cdna_end":3831},{"hgnc_id":"HGNC:16035","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000493750","biotype":"retained_intron","gene_id":"ENSG00000242866","gene_symbol":"STRC","variant_allele":"C","impact":"MODIFIER","strand":-1,"gene_symbol_source":"HGNC","distance":448},{"variant_allele":"C","gene_symbol":"CKMT1B","biotype":"protein_coding_CDS_not_defined","gene_id":"ENSG00000237289","transcript_id":"ENST00000498538","consequence_terms":["downstream_gene_variant"],"hgnc_id":"HGNC:1995","distance":4626,"gene_symbol_source":"HGNC","impact":"MODIFIER","strand":1},{"hgnc_id":"HGNC:16035","transcript_id":"ENST00000541030","gene_id":"ENSG00000242866","biotype":"protein_coding","codons":"gAa/gCa","variant_allele":"C","gene_symbol":"STRC","cdna_start":4844,"sift_score":0,"protein_start":886,"strand":-1,"cds_start":2657,"protein_end":886,"cdna_end":4844,"amino_acids":"E/A","polyphen_prediction":"probably_damaging","consequence_terms":["missense_variant"],"sift_prediction":"deleterious","impact":"MODERATE","gene_symbol_source":"HGNC","polyphen_score":0.985,"cds_end":2657},{"gene_symbol":"CKMT1B","variant_allele":"C","gene_id":"ENSG00000237289","biotype":"protein_coding","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000627381","hgnc_id":"HGNC:1995","distance":3155,"gene_symbol_source":"HGNC","impact":"MODIFIER","strand":1},{"consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000882064","hgnc_id":"HGNC:1995","gene_symbol":"CKMT1B","variant_allele":"C","gene_id":"ENSG00000237289","biotype":"protein_coding","gene_symbol_source":"HGNC","strand":1,"impact":"MODIFIER","distance":1143},{"variant_allele":"C","gene_symbol":"CKMT1B","biotype":"protein_coding","gene_id":"ENSG00000237289","transcript_id":"ENST00000882065","consequence_terms":["downstream_gene_variant"],"hgnc_id":"HGNC:1995","distance":1143,"gene_symbol_source":"HGNC","impact":"MODIFIER","strand":1},{"distance":1143,"gene_symbol_source":"HGNC","strand":1,"impact":"MODIFIER","gene_symbol":"CKMT1B","variant_allele":"C","biotype":"protein_coding","gene_id":"ENSG00000237289","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000882066","hgnc_id":"HGNC:1995"},{"distance":1143,"strand":1,"impact":"MODIFIER","gene_symbol_source":"HGNC","biotype":"protein_coding","gene_id":"ENSG00000237289","variant_allele":"C","gene_symbol":"CKMT1B","hgnc_id":"HGNC:1995","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000882067"},{"impact":"MODIFIER","strand":1,"gene_symbol_source":"HGNC","distance":1143,"hgnc_id":"HGNC:1995","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000882068","gene_id":"ENSG00000237289","biotype":"protein_coding","variant_allele":"C","gene_symbol":"CKMT1B"},{"distance":1143,"impact":"MODIFIER","strand":1,"gene_symbol_source":"HGNC","gene_id":"ENSG00000237289","biotype":"protein_coding","variant_allele":"C","gene_symbol":"CKMT1B","hgnc_id":"HGNC:1995","transcript_id":"ENST00000934243","consequence_terms":["downstream_gene_variant"]},{"variant_allele":"C","gene_symbol":"CKMT1B","biotype":"protein_coding","gene_id":"ENSG00000237289","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000934244","hgnc_id":"HGNC:1995","distance":1143,"gene_symbol_source":"HGNC","impact":"MODIFIER","strand":1},{"variant_allele":"C","gene_symbol":"CKMT1B","gene_id":"ENSG00000237289","biotype":"protein_coding","transcript_id":"ENST00000934245","consequence_terms":["downstream_gene_variant"],"hgnc_id":"HGNC:1995","distance":1143,"gene_symbol_source":"HGNC","impact":"MODIFIER","strand":1},{"transcript_id":"ENST00000934246","consequence_terms":["downstream_gene_variant"],"hgnc_id":"HGNC:1995","variant_allele":"C","gene_symbol":"CKMT1B","biotype":"protein_coding","gene_id":"ENSG00000237289","gene_symbol_source":"HGNC","impact":"MODIFIER","strand":1,"distance":1143},{"hgnc_id":"HGNC:1995","transcript_id":"ENST00000941988","consequence_terms":["downstream_gene_variant"],"gene_id":"ENSG00000237289","biotype":"protein_coding","variant_allele":"C","gene_symbol":"CKMT1B","strand":1,"impact":"MODIFIER","gene_symbol_source":"HGNC","distance":1143},{"distance":1146,"impact":"MODIFIER","strand":1,"gene_symbol_source":"HGNC","biotype":"protein_coding","gene_id":"ENSG00000237289","gene_symbol":"CKMT1B","variant_allele":"C","hgnc_id":"HGNC:1995","consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00000941989"},{"distance":1145,"impact":"MODIFIER","strand":1,"gene_symbol_source":"HGNC","gene_id":"ENSG00000237289","biotype":"nonsense_mediated_decay","gene_symbol":"CKMT1B","variant_allele":"C","hgnc_id":"HGNC:1995","transcript_id":"ENST00001016295","consequence_terms":["downstream_gene_variant"]},{"gene_id":"ENSG00000237289","biotype":"nonsense_mediated_decay","gene_symbol":"CKMT1B","variant_allele":"C","hgnc_id":"HGNC:1995","transcript_id":"ENST00001016296","consequence_terms":["downstream_gene_variant"],"distance":1145,"strand":1,"impact":"MODIFIER","gene_symbol_source":"HGNC"},{"gene_symbol_source":"HGNC","impact":"MODIFIER","strand":1,"distance":1146,"consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00001016297","hgnc_id":"HGNC:1995","gene_symbol":"CKMT1B","variant_allele":"C","gene_id":"ENSG00000237289","biotype":"nonsense_mediated_decay"},{"distance":1146,"gene_symbol_source":"HGNC","strand":1,"impact":"MODIFIER","gene_symbol":"CKMT1B","variant_allele":"C","gene_id":"ENSG00000237289","biotype":"nonsense_mediated_decay","transcript_id":"ENST00001016298","consequence_terms":["downstream_gene_variant"],"hgnc_id":"HGNC:1995"},{"strand":1,"impact":"MODIFIER","gene_symbol_source":"HGNC","distance":1147,"hgnc_id":"HGNC:1995","transcript_id":"ENST00001016299","consequence_terms":["downstream_gene_variant"],"biotype":"nonsense_mediated_decay","gene_id":"ENSG00000237289","gene_symbol":"CKMT1B","variant_allele":"C"},{"hgnc_id":"HGNC:1995","transcript_id":"ENST00001016300","consequence_terms":["downstream_gene_variant"],"biotype":"nonsense_mediated_decay","gene_id":"ENSG00000237289","variant_allele":"C","gene_symbol":"CKMT1B","impact":"MODIFIER","strand":1,"gene_symbol_source":"HGNC","distance":1148},{"gene_symbol_source":"HGNC","impact":"MODIFIER","strand":1,"distance":1145,"consequence_terms":["downstream_gene_variant"],"transcript_id":"ENST00001080279","hgnc_id":"HGNC:1995","variant_allele":"C","gene_symbol":"CKMT1B","gene_id":"ENSG00000237289","biotype":"nonsense_mediated_decay"},{"gene_id":"ENSG00000237289","biotype":"nonsense_mediated_decay","gene_symbol":"CKMT1B","variant_allele":"C","hgnc_id":"HGNC:1995","transcript_id":"ENST00001080280","consequence_terms":["downstream_gene_variant"],"distance":1145,"strand":1,"impact":"MODIFIER","gene_symbol_source":"HGNC"},{"gene_id":"ENSG00000237289","biotype":"protein_coding","gene_symbol":"CKMT1B","variant_allele":"C","hgnc_id":"HGNC:1995","transcript_id":"ENST00001133015","consequence_terms":["downstream_gene_variant"],"distance":1143,"impact":"MODIFIER","strand":1,"gene_symbol_source":"HGNC"},{"protein_end":1659,"cds_start":4976,"cdna_end":5054,"strand":-1,"codons":"gAa/gCa","gene_id":"ENSG00000242866","biotype":"protein_coding","sift_score":0,"protein_start":1659,"gene_symbol":"STRC","cdna_start":5054,"variant_allele":"C","hgnc_id":"HGNC:16035","transcript_id":"ENST00001133226","polyphen_score":0.807,"cds_end":4976,"impact":"MODERATE","gene_symbol_source":"HGNC","sift_prediction":"deleterious","polyphen_prediction":"possibly_damaging","amino_acids":"E/A","consequence_terms":["missense_variant"]}],"allele_string":"A/C","most_severe_consequence":"missense_variant","seq_region_name":"15","assembly_name":"GRCh38","input":"NM_153700.2:c.4976A>C"}]