Only eight genes had at least three AJP-specific deleterious variants (Fig. 2(b) and Supplementary Table S3): APC, ABCA12, LRP2, EPPK1, HGFAC, ACAD11, HLCS and NOX1. APC and ABCA12 were discussed; the HGFAC (three variants) gene is a member of the peptidase S1 protein family and is associated with pancreatic cancer (Kitajima et al., 2008), a cancer type that is known to be more frequent among the AJP (Feldman, 2001). Here, EPPK1 is linked to pancreatic neoplasm.