Figure 2. Allele Frequency in Tumor DNA, Tumor Complementary DNA, and Skin DNA.
Panel A shows the percentage of variant alleles that were detected in tumor DNA, tumor complementary DNA (cDNA), and skin DNA for the 10 validated nonsynonymous tier 1 somatic mutations in the index patient. For comparison, variant allele frequencies are shown for six known single-nucleotide polymorphisms (SNPs). The patient was homozygous for the reference sequence for the first two variants, heterozygous for the next two variants, and homozygous for a rare SNP for the last two variants. Panel B shows variant allele frequencies for all validated tier 1 and tier 2 mutations and the six control SNPs for tumor DNA and skin DNA.