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 | SH3BP2 | 4 | 2814174 | G | A | NM_001145855 | 0.012 | neutral | 0 | 0.007 | 0.001 | NOP14 | 4 | 2940996 | C | T | NM_001291978 | 0.886 | deleterious | 0 | 0 | 0 | PCDH7 | 4 | 30724309 | G | A | NM_001173523 | 0.8318 | deleterious | 0 | 0 | 0 | RGS12 | 4 | 3317988 | G | A | NM_002926 | 0.9625 | deleterious | 0 | 1 | 0.999 | RGS12 | 4 | 3441281 | G | A | NM_198229 | 0.5771 | deleterious | 0 | 0.935 | 0.358 | LRPAP1 | 4 | 3526715 | C | T | NM_002337 | 0.955 | deleterious | 0.03 | 0 | 0 | DTHD1 | 4 | 36340755 | C | A | NM_001136536 | 0.2785 | neutral | 0.03 | 0 | 0 | NWD2 | 4 | 37446620 | C | A | NM_001144990 | 0.2446 | neutral | 0.91 | 0.278 | 0.057 | TBC1D1 | 4 | 38117541 | G | A | NM_001253912 | 0.9494 | deleterious | 0 | 1 | 0.999 | TLR10 | 4 | 38775885 | T | C | NM_001195108 | 0.0116 | neutral | 0 | 0 | 0 | WDR19 | 4 | 39217743 | G | A | NM_025132 | 0.9013 | deleterious | 0 | 0.544 | 0.341 | N4BP2 | 4 | 40104472 | C | G | NM_018177 | 0.0428 | neutral | 0.66 | 0 | 0.001 | NSUN7 | 4 | 40762471 | A | C | NM_024677 | 0.8135 | deleterious | 0 | 0.298 | 0.069 | APBB2 | 4 | 40818170 | C | G | NM_001166051 | 0.8729 | deleterious | 0 | 0 | 0 | LIMCH1 | 4 | 41646620 | G | A | NM_001289124 | 0.4164 | neutral | 0 | 0 | 0 | ATP8A1 | 4 | 42583745 | C | T | NM_001105529 | 0.1483 | neutral | 0.64 | 0.347 | 0.202 | ZBTB49 | 4 | 4303826 | A | T | NM_145291 | 0.9987 | deleterious | 0 | 0.969 | 0.948 | GNPDA2 | 4 | 44709892 | T | C | NM_001270881 | 0.1188 | neutral | 0 | 0 | 0 | GABRA2 | 4 | 46258318 | A | T | NM_001286827 | 0.4142 | deleterious | 0 | 0 | 0 | GABRA2 | 4 | 46307662 | G | A | NM_001286827 | 0.8666 | deleterious | 0 | 0 | 0 |
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