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 | KLHL17 | 1 | 897739 | T | C | NM_198317 | 0.9882 | deleterious | 0.25 | 0.998 | 0.972 | GBP6 | 1 | 89846032 | G | A | NM_198460 | 0.2803 | neutral | 0.12 | 0.815 | 0.234 | CDC7 | 1 | 91973842 | G | T | NM_001134419 | 0.1603 | neutral | 0.21 | 0 | 0 | CDC7 | 1 | 91977407 | C | T | NM_001134419 | 0.9066 | deleterious | 0.08 | 0 | 0 | GLMN | 1 | 92737032 | T | C | NM_053274 | 0.1096 | neutral | 1 | 0 | 0.001 | MTF2 | 1 | 93580638 | C | T | NM_001164392 | 0.1495 | neutral | 0.04 | 0.793 | 0.269 | MTF2 | 1 | 93602372 | G | A | NM_001164391 | 0.8067 | deleterious | 0 | 0 | 0 | CCDC18 | 1 | 93667486 | G | A | NM_001306076 | 0.8601 | deleterious | 0 | 0 | 0 | FNBP1L | 1 | 94009717 | A | C | NM_001024948 | 0.4969 | deleterious | 0.1 | 0.852 | 0.477 | ABCA4 | 1 | 94512565 | C | T | NM_000350 | 0.2231 | neutral | 0.16 | 0.01 | 0.012 | ABCD3 | 1 | 94953137 | A | G | NM_002858 | 0.9116 | deleterious | 0.25 | 0.117 | 0.145 | TMEM201 | 1 | 9673136 | C | T | NM_001130924 | 0.5113 | deleterious | 0 | 0 | 0 | PTBP2 | 1 | 97272493 | G | A | NM_001300990 | 0.1016 | neutral | 0 | 0 | 0 | AGRN | 1 | 981205 | T | C | NM_198576 | 0.9994 | deleterious | 0 | 0.999 | 0.999 | ABCC2 | 10 | 101594216 | T | C | NM_000392 | 0.9195 | deleterious | 0 | 0.989 | 0.981 | DNMBP | 10 | 101637066 | C | A | NM_015221 | 0.2215 | neutral | 0.12 | 0.917 | 0.462 | DNMBP | 10 | 101731776 | C | T | NM_015221 | 0.9354 | deleterious | 0.07 | 1 | 0.999 | PKD2L1 | 10 | 102054351 | G | A | NM_001253837 | 0.0743 | neutral | 0 | 0.938 | 0.391 | SEMA4G | 10 | 102740667 | T | C | NM_001203244 | 0.9984 | deleterious | 0 | 1 | 0.993 | C10orf76 | 10 | 103771485 | T | C | NM_024541 | 0.4745 | deleterious | 0.05 | 0.469 | 0.118 |
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