TP53, NFE2L2, CDKN2A and FBXW7 were more frequently mutated in ESCC or dysplastic samples, while NOTCH family genes, PPM1D, ZFP36 L2, FAT1, CHEK2 and PAX9 were more frequently mutated in normal epithelium. The gene discussed is CDKN2A; the disease is esophageal squamous cell carcinoma.