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 | CRB1 | 1 | 197297759 | G | A | NM_001257965 | 0.0202 | neutral | 0 | 0.005 | 0.009 | CRB1 | 1 | 197390429 | G | A | NM_001193640 | 0.0961 | neutral | 0.66 | 0.003 | 0.002 | PTPRC | 1 | 198668761 | G | C | NM_002838 | 0.0728 | neutral | 0 | 0 | 0 | TMCO4 | 1 | 20072082 | C | T | NM_181719 | 0.5057 | deleterious | 0.15 | 0.966 | 0.908 | KIF21B | 1 | 200971340 | G | A | NM_001252100 | 0.1133 | neutral | 0 | 1 | 0.993 | CACNA1S | 1 | 201009483 | G | C | NM_000069 | 0.4875 | neutral | 0.18 | 0.118 | 0.103 | IGFN1 | 1 | 201190758 | C | T | NM_001164586 | 0.2908 | neutral | 0 | 0.999 | 0.992 | NAV1 | 1 | 201687561 | C | A | NM_020443 | 0.8286 | deleterious | 0 | 0.998 | 0.937 | PTPN7 | 1 | 202119524 | T | C | NM_080588 | 0.9479 | deleterious | 0 | 0.805 | 0.532 | KDM5B | 1 | 202710688 | G | A | NM_006618 | 0.1486 | neutral | 0 | 0.987 | 0.846 | KDM5B | 1 | 202742307 | C | G | NM_001314042 | 0.9843 | deleterious | 0 | 0 | 0 | KDM5B | 1 | 202746219 | A | G | NM_001314042 | 0.9914 | deleterious | 0 | 0 | 0 | KLHL12 | 1 | 202863873 | C | G | NM_001303109 | 0.9486 | deleterious | 0 | 0 | 0 | KLHL12 | 1 | 202880289 | C | T | NM_001303109 | 0.9631 | deleterious | 0 | 0 | 0 | PRELP | 1 | 203452982 | A | G | NM_002725 | 0.6648 | deleterious | 0.57 | 0.043 | 0.048 | OPTC | 1 | 203466190 | C | T | NM_014359 | 0.0345 | neutral | 0.15 | 0.525 | 0.057 | ATP2B4 | 1 | 203652386 | G | A | NM_001001396 | 0.0068 | neutral | 0 | 0 | 0 | ZC3H11A | 1 | 203816493 | G | T | NM_014827 | 0.9745 | deleterious | 0 | 0.999 | 0.986 | PLEKHA6 | 1 | 204237413 | C | T | NM_014935 | 0.0364 | neutral | 1 | 0.001 | 0.001 | RBBP5 | 1 | 205072989 | C | T | NM_001193272 | 0.9969 | deleterious | 0 | 0.982 | 0.906 |
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