We examined the impact of SNPs, indels, inversions, and CNVs located within annotated gene models (ENSEMBL version 60). Each variant was evaluated for overlap with gene models and annotated as 5′ UTR, coding/exon, intron, 3′ UTR and intergenic regions using in-house Python scripts (available upon request). Sequence variants were further examined and classified by types of variants, including nonsense, missense, splicing variant and frameshift. When possible, variants were also annotated by gene symbol and other accessions.
