Table 2 Clinically relevant variants detected by PHIAL
Coverage | Allelic fraction | ||||
|---|---|---|---|---|---|
Gene | Variant | Primary | Relapse | Primary | Relapse |
TP53 | Missense_Mutation | 35 | 37 | 0.66 | 0.62 |
NOTCH2 | Nonsense_Mutation | 24 | 26 | 0.58 | 0.27 |
EP300 | Missense_Mutation | 55 | 63 | 0.31 | 0.33 |
DNMT3A | Splice_Site | 52 | NA | 0.08 | NA |
EZH2 | Missense_Mutation | 37 | NA | 0.3 | NA |
FBWX7 | Missense_Mutation | NA | 64 | NA | 0.38 |
FIP1L1 | Splice_Site | NA | 59 | NA | 0.37 |