In FML014, for example (Fig. 2d), the index case (IV.2) retained a novel heterozygous germline ETV6 variant c.349C>T (p.Leu117Phe) with low ExAC frequency (8.237E-06) but samples from other affected family members (maternal grandfather (II.2), maternal great aunt (II.3), and maternal great-grandmother (I.2)) who had all died of leukemia were unavailable. The gene discussed is ETV6; the disease is leukemia.