Annovar

Functional annotation of genetic variants from high-though put sequencing data.

ANNOVAR is an efficient software tool to utilize update-to-date information to functionally annotate genetic variants detected from diverse genomes (including human genome hg18, hg19, hg38, as well as mouse, worm, fly, yeast and many others). Given a list of variants with chromosome, start position, end position, reference nucleotide, and observed nucleotides, ANNOVAR can perform gene-based, region-based or filter-based annotation as well as many other functionalities.