Dx (PR-259) | NePC (PR-258) | |||||||||
---|---|---|---|---|---|---|---|---|---|---|
Location | Gene | Ref | Alt | AA change | Var. allele frequency (FAO/FDP) | Read depth (FDP) | Var. allele frequency (FAO/FDP) | Read depth (FDP) | AV_TX | AV_NUC |
chr17:7577094 | TP53 | G | A | p.R282W | 1.6 % | 755 | 69 % | 217 | NM_000546 | c.C844T |
chr18:48604783 | SMAD4 | C | – | p.L535fs | 36 % | 227 | 67 % | 196 | NM_005359 | c.1605delC |
chr12:49449077 | KMT2D | T | C | p.K11E | 18 % | 22 | 37 % | 180 | NM_003482 | c.A31G |
chr5:7878077 | MTRR | C | G | p.P141R | 15 % | 89 | 55 % | 142 | NM_002454 | c.C422G |
chr19:17953318 | JAK3 | C | T | p.R223H | 54 % | 76 | 60 % | 70 | NM_000215 | c.G668A |
chr6:32166327 | NOTCH4 | T | C | p.T1543A | 42 % | 608 | 35 % | 231 | NM_004557 | c.A4627G |