Table 1.
Mutational profile of wtGISTc as assessed by targeted sequencing. VAF: Variant Allele Frequency.
| wtGISTc | Gene Name | Variant Type | Single Nucleotide Variant ID | VAF (%) | Fold Change |
|---|---|---|---|---|---|
| S012 | SPEN | inframe_deletion | chr1_16260673_CCTCACTGGTCTGGTGAGCGCA_C | 27 | |
| LATS2 | missense_variant | chr13_21562627_G_A | 36 | ||
| JAK2 | amplification | chr9 | 1.946 | ||
| PTEN | amplification | chr10 | 1.445 | ||
| S061 | / | / | / | / | |
| S075 | / | / | / | / | |
| S108 | NOTCH1 | missense variant:splice region variant | chr9_139401170_G_A | 51 | |
| S125 | / | / | / | / | |
| S148 | ARID1B | missense_variant | chr6_157100551_G_C | 47 | |
| PRKDC | missense_variant | chr8_48805728_C_G | 24 | ||
| S173 | MYCN | missense_variant | chr2_16082319_C_T | 20 | |
| GNAS | missense_variant | chr20_57474036_G_T | 19 | ||
| S188 | PGR | missense_variant | chr11_100998322_C_G | 31 | |
| S220 | HIST3H3 | missense_variant | chr1_228612992_G_A | 16 | |
| LRP1B | missense_variant | chr2_141201961_G_T | 19 | ||
| CUL3 | missense_variant | chr2_225379486_G_A | 20 | ||
| PRKDC | missense_variant | chr8_48866988_T_G | 58 | ||
| MALT1 | missense_variant | chr18_56363602_A_G | 16 | ||
| NF2 | stop_gained | chr22_30038226_C_A | 50 | ||
| FGFR1 | amplification | chr8 | 1.533 | ||
| MYC | amplification | chr8 | 1.637 | ||
| S243 | IRS1 | stop_gained | chr2_227661875_G_T | 9 | |
| PDGFRB | inframe_deletion | chr5_149495390_AGCTCTG_A | 7 | ||
| NOTCH4 | missense_variant | chr6_32189007_G_A | 7 | ||
| S288 | FGF2 | missense_variant | chr4_123813429_C_T | 51 | |
| FAT1 | missense_variant | chr4_187628598_T_C | 46 |