We identified 39 individuals (0.019%) with two or more supporting reads of BCR::ABL1 or ABL1::BCR, most of whom had a diagnosis of CML, haematological features suspicious of CML (for example, splenomegaly or basophilia) or unspecified haematological issues (Extended Data Fig. 6a). This evidence concerns the gene ABL1 and Splenomegaly.