Table 3 Validated exome variants
From: Molecular comparison of pure ovarian fibroma with serous benign ovarian tumours
Sample | CHR | POS | REF | ALT | Consequence | Gene | Amino acids | Condel | PolyPhen | SIFT | SiftTransficLabel | Validation |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
A42 | 11 | 821679 | T | G | MS | PNPLA2 | F/C | Deleterious (0.702) | Prob_damaging (0.984) | Tolerated (0.11) | Low_impact | Somatic |
A42 | 19 | 897480 | G | A | MS | R3HDM4 | P/L | Deleterious (0.481) | Prob_damaging (0.996) | Tolerated (0.37) | Low_impact | Somatic |
A4 | 2 | 197090514 | T | C | MS | HECW2 | Y/C | Deleterious (0.935) | Prob_damaging (0.999) | Deleterious (0) | High_impact | Somatic |
A4 | 5 | 35068332 | C | A | MS | PRLR | A/S | Neutral (0.019) | Benign (0.026) | Tolerated (0.38) | Medium_impact | Somatic |
A4 | 16 | 9943623 | C | T | MS | GRIN2A | V/I | Neutral (0.000) | Benign (0.002) | Tolerated (1) | Low_impact | Somatic |
A4 | 19 | 4448308 | C | G | SRV | UBXN6 | . | . | . | . | . | Somatic |
A4 | 19 | 38692604 | G | C | MS | SIPA1L3 | G/A | Neutral (0.001) | Benign (0.002) | Tolerated (0.82) | Low_impact | Somatic |
A17 | X | 31222107 | C | A | NS | DMD | E/* | . | . | . | . | Somatic |
IC158 | 3 | 47127761 | T | C | MS | SETD2 | H/R | Deleterious (0.808) | Prob_damaging (0.96) | Deleterious (0.01) | Medium_impact | Somatic |
IC158 | 1 | 44156598 | C | T | MS | KDM4A | P/L | Deleterious (0.881) | Prob_damaging (0.987) | Deleterious (0) | High_impact | Somatic |
IC158 | 7 | 96639132 | C | T | MS | DLX6 | R/C | Deleterious (0.877) | Prob_damaging (0.985) | Deleterious (0) | High_impact | Somatic |
IC158 | 7 | 100484701 | G | A | MS | SRRT | V/M | Deleterious 0.892) | Prob_damaging (0.992) | Deleterious (0) | Medium_impact | Somatic |
IC158 | 14 | 102504858 | G | T | MS | DYNC1H1 | G/V | Deleterious (0.886) | Prob_damaging (0.99) | Deleterious (0) | High_impact | Somatic |
IC158 | 16 | 21726339 | G | A | MS | OTOA | A/T | Neutral (0.021) | Benign (0.042) | Tolerated (0.37) | Low_impact | Somatic |
IC467 | 12 | 49422612 | T | C | MS | KMT2D | K/R | Deleterious (0.543) | Prob_damaging (0.994) | Deleterious (0) | NA | Somatic |
IC467 | 17 | 11603150 | A | G | MS | DNAH9 | K/E | Deleterious (0.832) | Prob_damaging (0.942) | Deleterious (0) | Medium_impact | Somatic |
IC467 | 19 | 51582924 | C | A | MS | KLK14 | R/M | Neutral (0.346) | Benign (0.231) | Tolerated (0.06) | Medium_impact | Somatic |
IC467 | 19 | 54313656 | C | A | MS | NLRP12 | E/D | Neutral (0.028) | Benign (0.113) | Tolerated (0.37) | Low_impact | Somatic |
IC467 | X | 5811262 | C | T | MS | NLGN4X | A/T | Neutral (0.199) | Poss_damaging (0.47) | Tolerated (0.21) | Low_impact | Somatic |
IC467 | X | 77112855 | T | C | MS | MAGT1 | N/S | Neutra (0.002) | Benign (0.014) | Tolerated (0.76) | Low_impact | Somatic |