View Variant Prediction
Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.
| Gene Symbol | Chr | Position | refNT | altNT | transcript | iFish Probability | iFish Prediction | SIFT | Polyhen2_HDIV | Polyhen2_HVAR | UBXN10 | 1 | 20517220 | G | A | NM_152376 | 0.0251 | neutral | 0.24 | 0.001 | 0 | PM20D1 | 1 | 205797834 | A | G | NM_152491 | 0.9818 | deleterious | 0.38 | 1 | 0.996 | C4BPB | 1 | 207265132 | A | G | NM_001017364 | 0.0307 | neutral | 0 | 0 | 0 | CR1 | 1 | 207793410 | C | T | NM_000573 | 0.6101 | deleterious | 0 | 1 | 0.885 | CD34 | 1 | 208073205 | C | A | NM_001025109 | 0.0184 | neutral | 0.02 | 0.131 | 0.023 | DIEXF | 1 | 210016834 | G | A | NM_014388 | 0.6653 | deleterious | 0.11 | 1 | 0.953 | NEK2 | 1 | 211843642 | G | A | NM_001204182 | 0.9447 | deleterious | 0 | 0 | 0 | INTS7 | 1 | 212190300 | C | G | NM_001199811 | 0.9096 | deleterious | 0 | 0.974 | 0.969 | FAM71A | 1 | 212799139 | A | G | NM_153606 | 0.082 | neutral | 0.03 | 0.015 | 0.005 | FLVCR1 | 1 | 213061871 | G | A | NM_014053 | 0.9997 | deleterious | 0.07 | 0.998 | 0.991 | RPS6KC1 | 1 | 213302953 | C | A | NM_001136138 | 0.1177 | neutral | 0.04 | 0.075 | 0.03 | RPS6KC1 | 1 | 213415526 | G | C | NM_001287220 | 0.6895 | deleterious | 0 | 0 | 0 | PTPN14 | 1 | 214557735 | G | A | NM_005401 | 0.9732 | deleterious | 0 | 1 | 0.998 | USH2A | 1 | 216062348 | A | C | NM_206933 | 0.1924 | neutral | 0.08 | 0.351 | 0.163 | USH2A | 1 | 216363573 | A | G | NM_007123 | 0.4483 | neutral | 0 | 0.821 | 0.383 | EPRS | 1 | 220195788 | C | T | NM_004446 | 0.9997 | deleterious | 0 | 1 | 1 | BPNT1 | 1 | 220233081 | C | A | NM_001286149 | 0.7625 | deleterious | 0 | 0 | 0 | RAB3GAP2 | 1 | 220379266 | C | T | NM_012414 | 0.9303 | deleterious | 0.01 | 1 | 0.998 | MARK1 | 1 | 220835359 | G | A | NM_001286128 | 0.1084 | neutral | 0 | 0 | 0 | HSPG2 | 1 | 22200454 | G | T | NM_005529 | 0.4875 | neutral | 0.5 | 0.768 | 0.422 |
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