Variants in CBL, CEBPA, CSF3R, DDX41, ETNK1, ETV6, EZH2, FLT3, GATA2, IDH1, KIT, NPM1, NRAS, PTPN11 and STAG2 were recurrently detected in MDS and sAML (Supplementary Table 11), but not in individuals with CH. The gene discussed is NPM1; the disease is myelodysplastic syndrome.