Features

• supports HGVS nomenclature
• supports input from gene name, transcript ID, protein ID, UniProt ID and other aliases
• supports both left-alignment and right-alignment convention in reporting indels and duplications
• supports annotation of a region based on a transcript-dependent characterization
• supports mutations at both coding region and intronic/UTR regions
• supports noncoding RNA annotation
• supports VCF inputs
• supports long haplotype decomposition
• supports single nucleotide variation (SNV), insertions and deletions (indels) and block substitutions
• supports transcript annotation from commonly-used databases such as Ensembl, NCBI RefSeq and GENCODE etc.
• supports GRCh36, 37, 38 (human), GRCm38 (mouse), NCBIM37 (mouse)
• supports >60 other genomes available from Ensembl
• functionality of forward annotation.