NF1 and neoplasm: The tumour also contained two loss-of-function variants in NF1 which were a deletion variant (c.4604_4619del (p.Asp1535AlafsTer13)) in exon 34/57 leading to a premature stop codon and a splice region variant (c.655-6 T > G) in intron 6, predicted to be splice altering by Introme11, and observed to cause exon skipping in 6% (24/398) of RNA-sequencing reads (Fig. 3a).