Table 2.
#ID | Gene | Location | Reference | Nucleotide change | Amino acid change | VAF WES (%) | VAF RNA-Seq (%) |
---|---|---|---|---|---|---|---|
CPC-1 | TP53 | chr17:7674254 | NM_001126113 | c.704_709del | p.N235_Y236del | 71 | 81 |
CPC-2 | TP53 | chr17:7675140 | NM_001126113 | c.C472T | p.R158C | 59 | 78 |
aCPP-1 | TP53 | chr17:7673820 | NM_001126113 | c.G800T | p.R267L | 91 | 86 |
CPP-9 | TP53 | chr17:7676040 | NM_001126113 | c.G329T | p.R110L | 82 | 80 |
CPP-30 | TP53 | chr17:7577596 | NM_001126113 | c.T685G | p.C229G | 64 | 89 |
CPC-4 | TP53 | chr17:7578440 | NM_001126113 | c.491delA | p.K164Sfs*6 | 84 | 100 |
CPC-6 | TP53 | chr17:7573988 | NM_001126112 | c.G1039A | p.A347T | 94 | 93 |
CPP-5 | SMARCA4 | chr19:11098416 | NM_001128845 | c.T934C | p.S312P | 44 | 62 |
aCPP-4 | SF3B1 | chr2:198260807 | NM_012433 | c.C3512T | p.P1171L | 50 | 52 |
CPP-14 | ERBB4 | chr2:212295789 | NM_001042599 | c.C2524T | p.R842W | 51 | 70 |
aCPP-2 | TSC2 | chr16:2129290 | NM_001318831 | c.G2413A | p.E805K | 93 | 100 |
CPC-3 | ERCC2 | chr19:45855574 | NM_000400 | c.C2083T | p.R965C | 84 | 100 |
CPP-8 | MSH6 | chr2:48026006 | NM_000179 | c.A884G | p.K295R | 50 | 53 |
CPP-14 | JAK2 | chr9:5072537 | NM_001322204 | c.G1240A | p.V414I | 52 | 45 |
CPC-3 | JAK2 | chr9:5050778 | NM_001322204 | c.G114A | p.M38I | 81 | 77 |