Table 2 Somatic non-silent mutations found in both HCB-514 and tumor.
Chromosome | Position | Gene | Referrence allele | Variant allele | Aminoacid | Zygosity |
|---|---|---|---|---|---|---|
1 | 228335177 | GUK1 | C | T | p.R129W | Heterozygous |
2 | 69049563 | ARHGAP25 | G | A | p.G431E | Heterozygous |
5 | 140793112 | PCDHGA10 | G | A | p.E124K | Heterozygous |
7 | 77408339 | RSBN1L | A | C | p.K799Q | Heterozygous |
9 | 101900171 | TGFBR1 | C | T | p.A202V | Heterozygous |
10 | 51130414 | PARG | G | A | p.L59F | Heterozygous |
12 | 99194813 | ANKS1B | C | G | p.E1053Q | Heterozygous |
12 | 109201563 | SSH1 | G | A | p.R193W | Heterozygous |
13 | 32945095 | BRCA2 | G | A | p.W2830* | Heterozygous |
15 | 39874463 | THBS1 | G | A | p.R46H | Heterozygous |
15 | 43545745 | TGM5 | G | A | p.R215W | Heterozygous |
19 | 41084418 | SHKBP1 | G | A | p.R129W | Heterozygous |
20 | 4163484 | SMOX | G | A | p.G431E | Heterozygous |
20 | 23066708 | CD93 | G | A | p.E124K | Heterozygous |
21 | 47421214 | COL6A1 | G | C | p.K799Q | Heterozygous |
22 | 17590484 | IL17RA | C | G | p.A202V | Heterozygous |
22 | 19213831 | CLTCL1 | C | T | p.L59F | Heterozygous |
X | 49105196 | CCDC22 | G | T | p.E1053Q | Heterozygous |
