High-quality variants were defined as variants that (1) had a read-depth ≥ 5 and genotype-quality ≥ 20; (2) were contained in the high-confidence regions as described by Genome in a Bottle (ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/NA12878_HG001/NISTv3.3.2/GRCh37/supplementaryFiles/HG001_GRCh37_GIAB_highconf_CG-IllFB-IllGATKHC-Ion-10X-SOLID_CHROM1-X_v.3.3.2_highconf.bed) and (3) passed the gnomAD_Filter. Variant annotation was carried out using SnpEff68 (v.4.1).
