Table 1 Somatic SNVs and a small insertion detected by WES and WTS
From: Characterization of genetic aberrations in a single case of metastatic thymic adenocarcinoma
| Â | Â | Â | Sequence | Â | Allele frequency | ||
|---|---|---|---|---|---|---|---|
Gene | Chr | Position | Ref | Var | Coding change | WES | WTS |
APH1A | chr1 | 150,239,812 | A | T | p.L142H | 41/133 (30.83%) | 161/630 (25.56%) |
RNASEL | chr1 | 182,554,694 | G | C | p.H416Q | 21/151 (13.91%) | 2/15 (13.33%) |
GPR124 | chr8 | 37,695,290 | T | A | p.S698T | 26/74 (35.14%) | 0/35 (0%) |
WDR87 | chr19 | 38,384,338 | G | C | Â p.L669V | 33/177 (18.64%) | 0/0 (0%) |
ZBTB34 | chr9 | 129,642,990 | G | A | p.G434R | 37/160 (23.12%) | 0/0 (0%) |
PEG10 | chr7 | 94,293,260 | G | A | p.R207H | 37/193 (19.17%) | 0/2 (0%) |
TNFSF15 | chr9 | 117,552,937 | A | G | p.V184A | 17/112 (15.18%) | 2/2 (100%) |
NOL6 | chr9 | 33,464,880 | T | A | p.T926S | 16/89 (17.98%) | 20/208 (9.61%) |
ONECUT1 | chr15 | 53,082,000 | G | T | p.L28M | 21/47 (44.68%) | 0/0 (0%) |
CASKIN1 | chr16 | 2,229,210 | A | T | p.S1298T | 4/15 (26.67%) | 0/4 (0%) |
A3GALT2 | chr1 | 33,772,594 | G | A | p.R266C | 7/36 (19.44%) | 0/0 (0%) |
TENM3 | chr4 | 183,721,259 | C | T | p.R2619C | 17/61 (27.87%) | 1/3 (33.33%) |
GZF1 | chr20 | 23,346,065 | C | T | p.R349C | 21/102 (20.59%) | 2/9 (22.22%) |
MAFA | chr8 | 144,512,176 | G | A | p.T134M | 11/44 (25%) | 0/3 (0%) |
TP53 | chr17 | 7,578,403 | C | A | p.C176F | 51/91 (57.14%)Â Â Â Â Â Â | 44/84 (52.38%) |
TGFB2 | chr1 | 218,607,460 | C | T | p.R211C | 10/64 (15.62%) | 0/2 (0%) |
SEL1L2 | chr20 | 13,856,683 | C | T | splice donor variant | 30/120 (25%) | 0/0 (0%) |
SPTA1 | chr1 | 158,627,313 | G | C | p.P920R | 27/99 (27.27%) | 0/0 (0%) |
FAT1 | chr4 | 187,527,274 | T | +GACATC | nonframeshift | 14/51 (27.45%) | 0/0(0%) |
FAT1 | chr4 | 187,527,282 | G | A | p.S3431F | 14/51 (27.45%) | 0/0(0%) |