Moreover, we identified 15 previously reported recurrently mutated genes: KRAS, FAT3, DIS3, TRAF3, SP140, RB1, PTEN, ROBO1, PRDM1, NRAS, MYC, MAGED1, IRF4, HLA-A and CDK4 [10, 18–20, 30] (Fig. 1c), including mutations in three known ‘drivers’ of MM: KRAS, NRAS and DIS3 (Supplementary Table 4). The gene discussed is SP140; the disease is Miyoshi myopathy.