[{"SO_accession":"SO:0001630","description":"A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron","label":"splice region variant","SO_term":"splice_region_variant"},{"description":"A sequence variant that causes the extension of a genomic feature, with regard to the reference sequence","SO_accession":"SO:0001907","SO_term":"feature_elongation","label":"feature elongation"},{"SO_accession":"SO:0001632","description":"A sequence variant located 3' of a gene","label":"downstream gene variant","SO_term":"downstream_gene_variant"},{"SO_term":"stop_lost","label":"stop lost","description":"A sequence variant where at least one base of the terminator codon (stop) is changed, resulting in an elongated transcript","SO_accession":"SO:0001578"},{"SO_term":"regulatory_region_variant","label":"regulatory region variant","description":"A sequence variant located within a regulatory region","SO_accession":"SO:0001566"},{"SO_accession":"SO:0001894","description":"A feature ablation whereby the deleted region includes a regulatory region","label":"regulatory region ablation","SO_term":"regulatory_region_ablation"},{"SO_accession":"SO:0001623","description":"A UTR variant of the 5' UTR","label":"5 prime UTR variant","SO_term":"5_prime_UTR_variant"},{"SO_accession":"SO:0001587","description":"A sequence variant whereby at least one base of a codon is changed, resulting in a premature stop codon, leading to a shortened transcript","label":"stop gained","SO_term":"stop_gained"},{"SO_accession":"SO:0001906","description":"A sequence variant that causes the reduction of a genomic feature, with regard to the reference sequence","label":"feature truncation","SO_term":"feature_truncation"},{"label":"start lost","SO_term":"start_lost","SO_accession":"SO:0002012","description":"A codon variant that changes at least one base of the canonical start codon"},{"SO_term":"3_prime_UTR_variant","label":"3 prime UTR variant","description":"A UTR variant of the 3' UTR","SO_accession":"SO:0001624"},{"SO_term":"transcript_ablation","label":"transcript ablation","description":"A feature ablation whereby the deleted region includes a transcript feature","SO_accession":"SO:0001893"},{"SO_accession":"SO:0001895","description":"A feature ablation whereby the deleted region includes a transcription factor binding site","label":"TFBS ablation","SO_term":"TFBS_ablation"},{"description":"A sequence variant that causes a change at the 5th base pair after the start of the intron in the orientation of the transcript","SO_accession":"SO:0001787","SO_term":"splice_donor_5th_base_variant","label":"splice donor 5th base variant"},{"SO_term":"incomplete_terminal_codon_variant","label":"incomplete terminal codon variant","description":"A sequence variant where at least one base of the final codon of an incompletely annotated transcript is changed","SO_accession":"SO:0001626"},{"label":"TFBS amplification","SO_term":"TFBS_amplification","SO_accession":"SO:0001892","description":"A feature amplification of a region containing a transcription factor binding site"},{"SO_accession":"SO:0001575","description":"A splice variant that changes the 2 base region at the 5' end of an intron","label":"splice donor variant","SO_term":"splice_donor_variant"},{"SO_term":"sequence_variant","label":"sequence variant","description":"A sequence_variant is a non exact copy of a sequence_feature or genome exhibiting one or more sequence_alteration","SO_accession":"SO:0001060"},{"description":"An inframe non synonymous variant that inserts bases into in the coding sequence","SO_accession":"SO:0001821","SO_term":"inframe_insertion","label":"inframe insertion"},{"description":"A sequence variant where there is no resulting change to the encoded amino acid","SO_accession":"SO:0001819","SO_term":"synonymous_variant","label":"synonymous variant"},{"label":"mature miRNA variant","SO_term":"mature_miRNA_variant","SO_accession":"SO:0001620","description":"A transcript variant located with the sequence of the mature miRNA"},{"SO_term":"missense_variant","label":"missense variant","description":"A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved","SO_accession":"SO:0001583"},{"SO_accession":"SO:0001968","description":"A transcript variant of a protein coding gene","label":"coding transcript variant","SO_term":"coding_transcript_variant"},{"SO_term":"transcript_amplification","label":"transcript amplification","description":"A feature amplification of a region containing a transcript","SO_accession":"SO:0001889"},{"label":"protein altering variant","SO_term":"protein_altering_variant","SO_accession":"SO:0001818","description":"A sequence_variant which is predicted to change the protein encoded in the coding sequence"},{"label":"inframe deletion","SO_term":"inframe_deletion","SO_accession":"SO:0001822","description":"An inframe non synonymous variant that deletes bases from the coding sequence"},{"SO_accession":"SO:0001627","description":"A transcript variant occurring within an intron","label":"intron variant","SO_term":"intron_variant"},{"SO_accession":"SO:0002019","description":"A sequence variant where at least one base in the start codon is changed, but the start remains","label":"start retained variant","SO_term":"start_retained_variant"},{"SO_accession":"SO:0001891","description":"A feature amplification of a region containing a regulatory region","label":"regulatory region amplification","SO_term":"regulatory_region_amplification"},{"label":"NMD transcript variant","SO_term":"NMD_transcript_variant","SO_accession":"SO:0001621","description":"A variant in a transcript that is the target of NMD"},{"SO_term":"non_coding_transcript_variant","label":"non coding transcript variant","description":"A transcript variant of a non coding RNA gene","SO_accession":"SO:0001619"},{"description":"A sequence variant located 5' of a gene","SO_accession":"SO:0001631","SO_term":"upstream_gene_variant","label":"upstream gene variant"},{"SO_term":"splice_acceptor_variant","label":"splice acceptor variant","description":"A splice variant that changes the 2 base region at the 3' end of an intron","SO_accession":"SO:0001574"},{"SO_accession":"SO:0001580","description":"A sequence variant that changes the coding sequence","label":"coding sequence variant","SO_term":"coding_sequence_variant"},{"label":"TF binding site","SO_term":"TF_binding_site_variant","SO_accession":"SO:0001782","description":"A sequence variant located within a transcription factor binding site"},{"label":"frameshift variant","SO_term":"frameshift_variant","SO_accession":"SO:0001589","description":"A sequence variant which causes a disruption of the translational reading frame, because the number of nucleotides inserted or deleted is not a multiple of three"},{"SO_term":"splice_donor_region_variant","label":"splice donor region variant","description":"A sequence variant that falls in the region between the 3rd and 6th base after splice junction (5' end of intron).","SO_accession":"SO:0002170"},{"SO_term":"non_coding_transcript_exon_variant","label":"non coding transcript exon variant","description":"A sequence variant that changes non-coding exon sequence in a non-coding transcript","SO_accession":"SO:0001792"},{"SO_term":"stop_retained_variant","label":"stop retained variant","description":"A sequence variant where at least one base in the terminator codon is changed, but the terminator remains","SO_accession":"SO:0001567"},{"label":"splice polypyrimidine tract variant","SO_term":"splice_polypyrimidine_tract_variant","SO_accession":"SO:0002169","description":"A sequence variant that falls in the polypyrimidine tract at 3' end of intron between 17 and 3 bases from the end (acceptor -3 to acceptor -17)"},{"description":"A sequence variant located in the intergenic region, between genes","SO_accession":"SO:0001628","SO_term":"intergenic_variant","label":"intergenic variant"}]