In this case, the analysis performed during the 100,000 Genomes Project (Genomics England pipeline 1.0, Online Methods) failed to detect a driver somatic hotspot variant in the JAK2 gene (ENST00000381652:p.V617F) due to TIN contamination (variant supported by 50 out of 110 paired reads in the tumour, and 4 out of 34 in the normal; Fig. 7a). This evidence concerns the gene JAK2 and neoplasm.