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 | CADPS2 | 7 | 122001046 | C | T | NM_001009571 | 0.1527 | neutral | 0 | 1 | 0.992 | CADPS2 | 7 | 122019472 | C | T | NM_001009571 | 0.0641 | neutral | 0 | 0.036 | 0.043 | CADPS2 | 7 | 122027130 | C | T | NM_001009571 | 0.8274 | deleterious | 0 | 1 | 0.969 | CADPS2 | 7 | 122114500 | A | C | NM_001009571 | 0.1916 | neutral | 0 | 0 | 0.001 | CADPS2 | 7 | 122114544 | A | G | NM_001009571 | 0.832 | deleterious | 0 | 0.917 | 0.64 | RNF133 | 7 | 122338970 | C | T | NM_139175 | 0.0005 | neutral | 0 | 0.046 | 0.011 | TMEM106B | 7 | 12258122 | G | A | NM_001134232 | 0.989 | deleterious | 0 | 1 | 0.999 | IQUB | 7 | 123109383 | G | A | NM_001282855 | 0.7333 | deleterious | 0 | 0 | 0 | ASB15 | 7 | 123270114 | C | T | NM_001290258 | 0.0427 | neutral | 0 | 0 | 0 | LRRC4 | 7 | 127670456 | G | C | NM_022143 | 0.9764 | deleterious | 0 | 1 | 0.994 | FLNC | 7 | 128478444 | G | T | NM_001127487 | 0.7819 | deleterious | 0 | 0.522 | 0.329 | TNPO3 | 7 | 128610260 | G | C | NM_001191028 | 0.9714 | deleterious | 0 | 0.907 | 0.346 | TNPO3 | 7 | 128622321 | G | A | NM_001191028 | 0.0273 | neutral | 0 | 0.999 | 0.828 | AHCYL2 | 7 | 129008378 | A | G | NM_001130723 | 0.0082 | neutral | 0 | 0 | 0 | STRIP2 | 7 | 129094327 | G | A | NM_001134336 | 0.142 | neutral | 0 | 0.205 | 0.064 | STRIP2 | 7 | 129125422 | A | T | NM_020704 | 0.9284 | deleterious | 0.02 | 0.998 | 0.951 | KLHDC10 | 7 | 129736794 | G | A | NM_014997 | 0.7239 | deleterious | 0.45 | 0.841 | 0.745 | CPA4 | 7 | 129938587 | G | T | NM_001163446 | 0.4554 | neutral | 0 | 0.95 | 0.827 | CPA1 | 7 | 130025065 | T | C | NM_001868 | 0.7626 | deleterious | 0 | 0.997 | 0.997 | PLXNA4 | 7 | 131825445 | G | A | NM_020911 | 0.9916 | deleterious | 0.11 | 1 | 1 |
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