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 | TMED7 | 5 | 114952066 | T | A | NM_181836 | 0.9655 | deleterious | 0 | 1 | 0.997 | LVRN | 5 | 115323514 | G | C | NM_173800 | 0.9975 | deleterious | 0.01 | 0.999 | 0.987 | DMXL1 | 5 | 118454514 | T | A | NM_001290321 | 0.1813 | neutral | 0 | 0 | 0 | DMXL1 | 5 | 118485784 | C | T | NM_001290322 | 0.0031 | neutral | 0 | 0 | 0 | DMXL1 | 5 | 118505962 | C | T | NM_001290322 | 0.0101 | neutral | 0 | 0 | 0 | DMXL1 | 5 | 118506652 | C | T | NM_001290322 | 0.0029 | neutral | 0 | 0 | 0 | SNCAIP | 5 | 121761186 | G | A | NM_005460 | 0.8989 | deleterious | 0 | 1 | 0.999 | SNCAIP | 5 | 121787121 | C | T | NM_001308109 | 0.0332 | neutral | 0 | 0 | 0 | PRDM6 | 5 | 122495236 | G | A | NM_001136239 | 0.8015 | deleterious | 0.08 | 0.999 | 0.997 | TERT | 5 | 1264586 | C | T | NM_198253 | 0.3907 | neutral | 0.76 | 0.711 | 0.072 | FBN2 | 5 | 127702120 | T | G | NM_001999 | 0.7642 | deleterious | 0.12 | 0.979 | 0.973 | P4HA2 | 5 | 131534615 | T | C | NM_001017973 | 0.9996 | deleterious | 0 | 1 | 1 | P4HA2 | 5 | 131543433 | T | A | NM_001017973 | 0.982 | deleterious | 0 | 0.981 | 0.949 | SEC24A | 5 | 134050741 | C | G | NM_021982 | 0.9304 | deleterious | 0.15 | 0.817 | 0.612 | SEC24A | 5 | 134059281 | C | A | NM_021982 | 0.3635 | neutral | 0.31 | 0.01 | 0.014 | SEC24A | 5 | 134059282 | C | G | NM_021982 | 0.7207 | deleterious | 0.25 | 0.674 | 0.273 | DNAH5 | 5 | 13714585 | G | A | NM_001369 | 0.8673 | deleterious | 0 | 1 | 1 | CDC23 | 5 | 137524696 | G | A | NM_004661 | 0.8967 | deleterious | 0.13 | 0.296 | 0.045 | DNAH5 | 5 | 13841076 | C | T | NM_001369 | 0.8673 | deleterious | 0 | 1 | 0.994 | DNAH5 | 5 | 13883123 | C | T | NM_001369 | 0.3085 | neutral | 0.28 | 0.001 | 0.003 |
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