Fig. 1

Flow chart of next generation sequencing variant filtration and annotation. The variants were filtered based on their coverage (minimum coverage of 20×), variant effect, dbSNP, ExAC, 500 exomes and 1000 Genome Project databases status. The filtered variants were visually examined using Integrative Genomics Viewer (IGV) software (http//www.broadinstitute.org/igv), to further filter out variants with possible strand-bias and variants that fall into homopolymeric region. All the filtered variants were annotated as per the ACMG guidelines