Also of interest, there were 8 additional germline variants identified from whole exome seq of the index family (CEP95, CEP250, GUSB, SNTG1, AGBL1, RAB7A, RSPRY1, and PRR23C, appendix p 2) that also co-segregated with ALL and were rare (MAF<0.01%) in non-ALL controls. The gene discussed is RSPRY1; the disease is acute lymphoblastic leukemia.