Annotation with dbNSFP
Annotation of those input VCF variants was performed using functional predictions from the database of non-synonymous single-nucleotide variant functional predictions (dbNSFP) version 4.0b1a (X. Liu, Wu, Li, & Boerwinkle, 2016) and exon start/stop locations were retrieved from the University of California Santa Cruz (UCSC) table browser (Karolchik et al., 2004).