Table 3.
Oncogenic variants identified in two cases with available NGS data.
| Variant | RefSeq Transcript | Chromosome | Genomic Position | Reference Allele | Alternate Allele | Function | Sequencing Depth | Mutant Allele Frequency |
|---|---|---|---|---|---|---|---|---|
| Patient 6 | ||||||||
| PTEN p.N292fs | NM_000314 | chr10 | g.89,720,720 | GA | G | frameshift | 262 | 62% |
| NF1 p.Y1659fs | NM_000267 | chr17 | g.29,653,035 | ATATC | A | frameshift | 1169 | 33% |
| EGFR focal amplification | NM_005228 | chr7 | whole gene amplification | |||||
| Chromozome (7+/10−) | ||||||||
| Patient 8 | ||||||||
| TERT c.-146C>T | NM_198253 | chr5 | g.1,295,250 | G | A | upstream | 620 | 35% |
| PTEN p.C124Y | NM_000314.7 | chr10 | g.89,692,887 | G | A | missense | 220 | 46% |
| Chromosome (7+/10−) | ||||||||