Figure 4 -. Amplicons used in this study.

A. SCNIOA and PIK3CA amplicon sets phased in this study (13, 3.9, 4.1, and 2.7 kb from genomic DNA and 3.4 and 1.8 kb from cDNA, respectively). HGOOl carries previously annotated Hapl and Hap3 haplotypes. Red bars indicate the position of 7 clinically relevant heterozygous sites; orange bars indicate the position of 15 additional heterozygous sites. Alleles are colored if represent the alternate allele, i.e., different from the human reference. HCC202 cells carry two clinically relevant alleles (in red) and one non-clinically relevant variant (in orange). B. E-gels with PCR products as indicated. Non-specific DNA and primers were removed as indicated (see dashed square as example). We selected minimally amplified PCR products (see PKI3CA example with 1:20 diluted cDNA). DNA concentrations are indicated at the bottom.