RPS6KA2 and neoplasm: Note that, among mutations called with our approach and not with the second best performing pipeline, there were several missense mutations in proliferation and cancer genes, among them a stop-gain mutation in RPS6KA2, a putative tumour suppressor gene [17], and a stop-gain mutation in KMT2C, which has been found mutated in several cancer types (http://cancer.sanger.ac.uk/cosmic).