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 | CHD1L | 1 | 146728216 | C | T | NM_004284 | 0.056 | neutral | 0 | 0.001 | 0.002 | GJA8 | 1 | 147380740 | A | G | NM_005267 | 0.9679 | deleterious | 0 | 0.999 | 0.997 | SV2A | 1 | 149881028 | C | G | NM_014849 | 0.6833 | deleterious | 0 | 0.627 | 0.222 | APH1A | 1 | 150240177 | C | A | NM_001243771 | 0.0676 | neutral | 0 | 0.982 | 0.735 | ECM1 | 1 | 150484919 | G | A | NM_022664 | 0.7073 | deleterious | 0.06 | 1 | 0.998 | ADAMTSL4 | 1 | 150529511 | C | T | NM_019032 | 0.0581 | neutral | 0.8 | 0.022 | 0.006 | GOLPH3L | 1 | 150636154 | T | C | NM_018178 | 0.1122 | neutral | 0.09 | 0 | 0 | SEMA6C | 1 | 151112158 | C | T | NM_001178061 | 0.08 | neutral | 0 | 0.451 | 0.071 | SELENBP1 | 1 | 151337466 | G | A | NM_001258288 | 0.07 | neutral | 0 | 0.999 | 0.916 | PSMB4 | 1 | 151372965 | C | A | NM_002796 | 0.9856 | deleterious | 0.26 | 0.92 | 0.897 | POGZ | 1 | 151378393 | C | T | NM_001194937 | 0.8927 | deleterious | 0 | 0.999 | 0.995 | POGZ | 1 | 151384237 | T | C | NM_145796 | 0.5482 | deleterious | 0 | 1 | 0.98 | CGN | 1 | 151491836 | C | T | NM_020770 | 0.2155 | neutral | 0 | 0 | 0 | RORC | 1 | 151787862 | C | G | NM_005060 | 0.9216 | deleterious | 0.08 | 0.423 | 0.356 | HRNR | 1 | 152188491 | C | T | NM_001009931 | 0.0375 | neutral | 0.62 | 0.147 | 0.024 | FLG2 | 1 | 152327810 | C | T | NM_001014342 | 0.0016 | neutral | 0.88 | 0.066 | 0.01 | SPRR2A | 1 | 153029019 | A | G | NM_005988 | 0.0001 | neutral | 0 | 0 | 0 | S100A1 | 1 | 153604222 | G | A | NM_006271 | 0.3204 | neutral | 0.73 | 0.778 | 0.06 | CHTOP | 1 | 153615820 | G | A | NM_015607 | 0.1199 | neutral | 0 | 0.998 | 0.954 | AQP10 | 1 | 154296135 | C | A | NM_080429 | 0.2143 | neutral | 0.8 | 0.392 | 0.147 |
|---|