Mutational Significance in Cancer (MuSiC) tool was used to identify significantly altered genes; important mutated genes included MXRA5, PLEC, NF1, FAT3, TP53, MDC1, CHEK2 and MDC1 which were significantly enriched for mutations (q value < 0.05) (Supplementary Table S8). The gene discussed is MDC1; the disease is cancer.