Table 2. Variants identified in Ion AmpliSeq Comprehensive Cancer Panel Genes.
Patient | Tumor Type | Gene | Chr | Location | Reference | Variant | Effect | AmpliSeq | ExomeSeq |
---|---|---|---|---|---|---|---|---|---|
UH1 | P | PAX3 | 2 | 223084928 | G | A | S SNV | x | |
P | PIK3CG | 7 | 106508092 | C | T | NS SNV | x | ||
P | PTCH1 | 9 | 98209634 | G | A | NS SNV | x | x | |
P | TNK2 | 3 | 195595319 | T | G | NS SNV | x | ||
UH2 | P | LLP | 3 | 188584016 | C | T | NS SNV | x | |
P | LLP | 3 | 188584017 | C | T | S SNV | x | ||
P | BRIP1 | 17 | 59763203 | C | T | NS SNV | x | ||
P | DYPD | 1 | 98039494 | A | G | S SNV | x | ||
P | MCL1 | 1 | 150551538 | C | T | NS SNV | x | ||
R | CDH5 | 16 | 66420931 | G | A | NS SNV | x | ||
UH3 | P | FLT4 | 5 | 180048765 | G | A | S SNV | x | |
P | PIK3CG | 7 | 106509875 | T | A | NS SNV | x | ||
P | PTEN | 10 | 89653783 | T | G | Stopgain | x | ||
P | TP53 | 17 | 7578475 | G | A | NS SNV | x | ||
R | PTEN | 10 | 89653783 | T | G | Stopgain | x | ||
R | TP53 | 17 | 7578475 | G | A | NS SNV | x | ||
R | NF1 | 17 | 29585518 | A | G | NS SNV | x | x |
Summary of all variants identified in this study, the majority of which were found in primary tumors. R, recurrent; Chr, chromosome; NS, nonsynonymous; P, primary; SNV, single nucleotide variant.