Table 1 Somatic variants detected in rhabdomyosarcoma (RMS; primary tumor, sample #1) by whole exome sequencing
From: Aberrant CDK4 Amplification in Refractory Rhabdomyosarcoma as Identified by Genomic Profiling
No | Ch | position | gene name | ref | var | vac | tr | vrf | vac | tr | vrf | func. Impact | fi score | prediction | score |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 19 | 35524413 | SCN1B | A | G | 0 | 35 | 0.0% | 11 | 21 | 52.4% | low | 1.865 | D | 0 |
2 | 7 | 113519206 | PPP1R3A | A | T | 0 | 102 | 0.0% | 66 | 142 | 46.5% | neutral | 0 | D | 0.03 |
3 | 4 | 94411875 | GRID2 | C | A | 0 | 61 | 0.0% | 31 | 67 | 46.3% | D | 0 | ||
4 | 15 | 29346353 | APBA2 | G | A | 0 | 62 | 0.0% | 23 | 53 | 43.4% | medium | 2.28 | D | 0.02 |
5 | 2 | 219513493 | ZNF142 | C | T | 0 | 24 | 0.0% | 9 | 21 | 42.9% | low | 0.875 | T | 0.3 |
6 | 1 | 53347155 | ZYG11A | G | T | 0 | 53 | 0.0% | 18 | 43 | 41.9% | D | 0 | ||
7 | 16 | 7568302 | RBFOX1 | C | A | 0 | 74 | 0.0% | 37 | 93 | 39.8% | medium | 2.595 | D | 0 |
8 | 2 | 85533345 | TCF7L1 | G | A | 0 | 23 | 0.0% | 6 | 19 | 31.6% | medium | 2.25 | T | 0.05 |
9 | 17 | 80445942 | NARF | A | G | 0 | 23 | 0.0% | 8 | 28 | 28.6% | neutral | 0.455 | D | 0.03 |
10 | 16 | 85698723 | KIAA0182 | T | A | 0 | 24 | 0.0% | 4 | 16 | 25.0% | low | 1.32 | D | 0.01 |
11 | X | 107224952 | TEX13B | G | A | 0 | 47 | 0.0% | 12 | 54 | 22.2% | low | 1.5 | T | 0.06 |
12 | 11 | 1093375 | MUC2 | C | T | 0 | 26 | 0.0% | 4 | 18 | 22.2% | T | 0.23 | ||
13 | 21 | 45877015 | LRRC3 | A | C | 0 | 28 | 0.0% | 4 | 20 | 20.0% | low | 0.865 | T | 0.11 |
14 | 1 | 24663626 | GRHL3 | A | C | 0 | 26 | 0.0% | 4 | 22 | 18.2% | low | 1.67 | D | 0 |
15 | 19 | 9005714 | MUC16 | A | C | 2 | 58 | 3.4% | 8 | 44 | 18.2% | medium | 1.935 | T | 0.13 |
16 | 18 | 29178556 | TTR | G | C | 0 | 28 | 0.0% | 4 | 23 | 17.4% | low | 1.545 | D | 0 |
17 | X | 47069419 | UBA1 | G | C | 0 | 41 | 0.0% | 6 | 36 | 16.7% | medium | 3.34 | D | 0 |
18 | 11 | 61563225 | FEN1 | T | G | 0 | 29 | 0.0% | 5 | 32 | 15.6% | medium | 2.83 | D | 0 |
19 | 17 | 12896247 | ELAC2 | A | C | 0 | 26 | 0.0% | 4 | 26 | 15.4% | low | 1.87 | D | 0 |
20 | 2 | 204045181 | NBEAL1 | A | C | 0 | 72 | 0.0% | 9 | 66 | 13.6% | high | 4.49 | D | 0 |
21 | 11 | 117342607 | DSCAML1 | A | C | 0 | 37 | 0.0% | 5 | 37 | 13.5% | medium | 2.93 | D | 0 |
22 | 5 | 140188268 | PCDHA4 | T | G | 0 | 39 | 0.0% | 5 | 37 | 13.5% | medium | 2.905 | D | 0 |
23 | 1 | 145601821 | POLR3C | G | C | 0 | 39 | 0.0% | 5 | 37 | 13.5% | low | 1.39 | D | 0.04 |