Concordant with the immunostaining, whole genome sequencing revealed a heterozygous somatic V559A mutation in exon 11 of KIT. Comparing the alignments of the control and tumour sequencing data suggests that, apart from the loss of heterozygosity described above, there are very few genomic differences between tumour and control indeed: A total number of 5509 somatic SNVs and 1784 short insertions/deletions (indels) were found, of which only 173 resp. The gene discussed is KIT; the disease is neoplasm.