SMC1A and neoplasm: Five patients also carried additional P-SNV targeting genes involved in DNA repair with tumor suppressor function Song et al., 2019; Zannini et al., 2014, including the loss of function variants in ATR (c.6318A>G) Fang et al., 2004 and SMC1A (p.X285_splice) (Figure 3D, Figure 2—figure supplement 2), and in DNA/histone methylation including TET2 (p.Q1627*) (Schnittger et al., 2012; Haferlach et al., 2014), IDH2 (p.R140Q) (Ward et al., 2010), and PBRM1 (c.996–7T>A) (Brownlee et al., 2014; Figure 3D, Figure 2—figure supplement 2).