The analyses identified 57 variants (FDR < 0.05) (Additional file 6: Table S5), the majority of which were TCGA-enriched variants found in the European ancestry and the most significant ones included MPO c.2031-2A>C (splice site variant, myeloperoxidase deficiency), F11 p.E135* and p.F301L (hereditary factor XI deficiency disease), and ACADM p.K333E and p.G271R (medium-chain acyl-coenzyme A dehydrogenase deficiency). The gene discussed is MPO; the disease is hyperinsulinemic hypoglycemia, familial, 4.