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 | PREX2 | 8 | 69002939 | C | T | NM_024870 | 0.7897 | deleterious | 0 | 0.998 | 0.889 | PREX2 | 8 | 69020350 | C | T | NM_024870 | 0.7955 | deleterious | 0.05 | 0.993 | 0.731 | PRDM14 | 8 | 70964491 | C | A | NM_024504 | 0.9986 | deleterious | 0 | 1 | 1 | KCNB2 | 8 | 73849256 | C | T | NM_004770 | 0.1883 | neutral | 0.04 | 0.019 | 0.026 | KCNB2 | 8 | 73850175 | A | G | NM_004770 | 0.7867 | deleterious | 0.05 | 0.999 | 0.993 | STAU2 | 8 | 74600948 | T | C | NM_001164385 | 0.9074 | deleterious | 0 | 0 | 0 | TMEM70 | 8 | 74893414 | C | T | NM_017866 | 0.7669 | deleterious | 0.01 | 1 | 0.997 | TMEM70 | 8 | 74893653 | G | A | NM_017866 | 0.5001 | deleterious | 0.06 | 0.922 | 0.759 | SGK223 | 8 | 8185746 | T | C | NM_001080826 | 0.4054 | neutral | 0 | 0.988 | 0.737 | LRRCC1 | 8 | 86037085 | G | A | NM_033402 | 0.1709 | neutral | 0.57 | 0.554 | 0.055 | CA3 | 8 | 86356291 | A | T | NM_005181 | 0.5125 | deleterious | 0.12 | 0.997 | 0.935 | CNGB3 | 8 | 87588291 | T | A | NM_019098 | 0.4875 | neutral | 0.27 | 0.947 | 0.788 | ERI1 | 8 | 8877895 | G | A | NM_153332 | 0.9997 | deleterious | 0.01 | 1 | 0.999 | DCAF4L2 | 8 | 88885654 | G | C | NM_152418 | 0.7485 | deleterious | 0.01 | 1 | 0.999 | MMP16 | 8 | 89068423 | G | T | NM_005941 | 0.2405 | neutral | 0.83 | 0 | 0.002 | RIPK2 | 8 | 90802429 | A | G | NM_003821 | 0.9072 | deleterious | 0 | 0.994 | 0.9 | GEM | 8 | 95272549 | G | C | NM_005261 | 0.5654 | deleterious | 1 | 0 | 0 | TSPYL5 | 8 | 98289238 | T | C | NM_033512 | 0.4709 | deleterious | 0.04 | 0.051 | 0.063 | MATN2 | 8 | 98991194 | C | T | NM_002380 | 0.1068 | neutral | 1 | 0.092 | 0.244 | NIPAL2 | 8 | 99217397 | A | G | NM_024759 | 0.4441 | neutral | 0.41 | 0.998 | 0.961 |
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