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 | TBL1XR1 | 3 | 176755900 | C | A | NM_024665 | 0.9994 | deleterious | 0 | 1 | 0.991 | TBL1XR1 | 3 | 176756165 | T | C | NM_024665 | 0.9949 | deleterious | 0 | 0.954 | 0.71 | TBL1XR1 | 3 | 176767848 | A | T | NM_024665 | 0.988 | deleterious | 0 | 1 | 1 | TBL1XR1 | 3 | 176767858 | A | T | NM_024665 | 0.9488 | deleterious | 0 | 0.991 | 0.891 | PIK3CA | 3 | 178916936 | G | A | NM_006218 | 0.9073 | deleterious | 0 | 1 | 0.98 | PIK3CA | 3 | 178947865 | G | A | NM_006218 | 0.9073 | deleterious | 0.01 | 0.966 | 0.789 | PIK3CA | 3 | 178952088 | A | G | NM_006218 | 0.9073 | deleterious | 0.64 | 0.01 | 0.004 | MFN1 | 3 | 179096450 | A | T | NM_033540 | 0.6346 | deleterious | 0 | 1 | 0.971 | GNB4 | 3 | 179123022 | T | C | NM_021629 | 0.9995 | deleterious | 0 | 1 | 1 | PEX5L | 3 | 179605524 | C | T | NM_001256753 | 0.292 | neutral | 0 | 1 | 0.996 | TTC14 | 3 | 180328097 | C | T | NM_133462 | 0.1496 | neutral | 0.03 | 1 | 0.95 | LAMP3 | 3 | 182871681 | T | G | NM_014398 | 0.5042 | neutral | 0.08 | 0.012 | 0.027 | MCF2L2 | 3 | 182923938 | C | T | NM_015078 | 0.2866 | neutral | 0.48 | 0.01 | 0.001 | KLHL6 | 3 | 183209871 | G | C | NM_130446 | 0.4651 | deleterious | 0.14 | 0.993 | 0.961 | MAP6D1 | 3 | 183535206 | T | C | NM_024871 | 0.9606 | deleterious | 0.05 | 0.998 | 0.983 | ABCC5 | 3 | 183667631 | G | A | NM_005688 | 0.9982 | deleterious | 0 | 1 | 0.987 | ABCC5 | 3 | 183682987 | T | G | NM_005688 | 0.9764 | deleterious | 0 | 0.162 | 0.317 | EIF2B5 | 3 | 183861920 | T | G | NM_003907 | 0.9854 | deleterious | 0.03 | 1 | 0.999 | ECE2 | 3 | 183994332 | G | A | NM_001100120 | 0.0244 | neutral | 0 | 0.007 | 0.006 | CLCN2 | 3 | 184076909 | C | T | NM_001171087 | 0.5125 | deleterious | 0 | 1 | 0.921 |
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