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 | PABPC1 | 8 | 101719145 | C | T | NM_002568 | 0.3885 | neutral | 0.46 | 0 | 0.002 | PABPC1 | 8 | 101730092 | T | C | NM_002568 | 0.4201 | neutral | 0 | 0.996 | 0.98 | UBR5 | 8 | 103281231 | T | C | NM_001282873 | 0.4875 | neutral | 0 | 0 | 0 | DCAF13 | 8 | 104439424 | T | G | NM_015420 | 0.005 | neutral | 0.38 | 0 | 0 | RP1L1 | 8 | 10464932 | C | G | NM_178857 | 0.1317 | neutral | 0.33 | 0.898 | 0.181 | RP1L1 | 8 | 10468390 | C | T | NM_178857 | 0.2433 | neutral | 0.32 | 0.193 | 0.014 | OXR1 | 8 | 107718722 | A | C | NM_181354 | 0.9823 | deleterious | 0.04 | 1 | 0.992 | NUDCD1 | 8 | 110255473 | G | A | NM_001128211 | 0.911 | deleterious | 0 | 1 | 0.982 | PKHD1L1 | 8 | 110478863 | A | G | NM_177531 | 0.147 | neutral | 0.39 | 0.001 | 0.004 | EBAG9 | 8 | 110576670 | A | T | NM_001278938 | 0.7527 | deleterious | 0 | 0 | 0 | MTMR9 | 8 | 11172535 | C | A | NM_015458 | 0.8122 | deleterious | 0.04 | 0.688 | 0.249 | CSMD3 | 8 | 113649210 | T | A | NM_052900 | 0.9865 | deleterious | 0 | 0.997 | 0.956 | BLK | 8 | 11415531 | T | C | NM_001715 | 0.9702 | deleterious | 0 | 0.848 | 0.992 | GATA4 | 8 | 11606467 | A | C | NM_001308094 | 0.6568 | deleterious | 0 | 0 | 0 | GATA4 | 8 | 11607635 | G | A | NM_002052 | 0.9719 | deleterious | 0 | 0.401 | 0.096 | TRPS1 | 8 | 116616940 | C | A | NM_001282902 | 0.1152 | neutral | 0 | 0 | 0 | EIF3H | 8 | 117669454 | G | A | NM_003756 | 0.785 | deleterious | 0 | 0.089 | 0.004 | RAD21 | 8 | 117874114 | A | G | NM_006265 | 0.9977 | deleterious | 0.76 | 0.983 | 0.829 | EXT1 | 8 | 118830706 | C | T | NM_000127 | 0.8884 | deleterious | 0.04 | 0.943 | 0.823 | EXT1 | 8 | 119122786 | G | A | NM_000127 | 0.9929 | deleterious | 0.05 | 1 | 0.993 |
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