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Gene alterations identified with NGS assay
| Altered gene | Gene alteration | VAF% |
|---|---|---|
| PI3KCA | E545D | 4.2 |
| ARID1A | Q1519fs*8 | 0.88 |
| CTNNB1 | D32Y | 8.5 |
| PTCH1 | R1308fs*64 | 13.0 |
| RAF1 | rearrangement intron 7 | 4.0 |
| ASXL1 | G645fs*58 | 14.2 |
| BCORL1 | P1681fs*20 | 1.1 |
| BRD4 | Q256fs*27 | 8.9 |
| CDH1 | splice site 163 + 1G > A | 0.61 |
| CREBBP | splice site 3836 + 1G > A | 7.5 |
| JAK1 | K860fs*16 | 0.46 |
| MLH1 | E178fs*24 | 8.8 |
| RB1 | R73fs*36 | 10.1 |
| TP53 |
R181H A138V E294fs*51 |
11.3 7.6 0.85 |
VAF% variant allele frequency percentage
