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 | CXXC5 | 5 | 139060538 | C | A | NM_001317199 | 0.4551 | neutral | 0 | 0 | 0 | PSD2 | 5 | 139219740 | C | G | NM_032289 | 0.2056 | neutral | 0.3 | 0.393 | 0.181 | SLC4A9 | 5 | 139750705 | G | A | NM_001258427 | 0.9145 | deleterious | 0 | 1 | 1 | WDR55 | 5 | 140048282 | C | T | NM_017706 | 0.9866 | deleterious | 0.01 | 1 | 0.999 | PCDHA2 | 5 | 140175208 | C | A | NM_018905 | 0.9993 | deleterious | 0 | 1 | 1 | PCDHA5 | 5 | 140203699 | C | A | NM_018908 | 0.0128 | neutral | 0 | 0 | 0.001 | PCDHA13 | 5 | 140263769 | A | T | NM_018904 | 0.8338 | deleterious | 0 | 0.992 | 0.908 | PCDHB7 | 5 | 140554718 | A | G | NM_018940 | 0.1157 | neutral | 0.93 | 0.004 | 0.016 | PCDHB8 | 5 | 140558933 | G | C | NM_019120 | 0.046 | neutral | 0.45 | 0.397 | 0.36 | PCDHB16 | 5 | 140563351 | A | G | NM_020957 | 0.281 | neutral | 0 | 0.671 | 0.672 | PCDHGB7 | 5 | 140799782 | A | C | NM_018927 | 0.0156 | neutral | 0.67 | 0 | 0 | DIAPH1 | 5 | 140913939 | C | G | NM_001079812 | 0.7899 | deleterious | 0 | 0.941 | 0.901 | GNPDA1 | 5 | 141384600 | A | G | NM_005471 | 0.3759 | neutral | 0.68 | 0 | 0.009 | TRIO | 5 | 14143965 | C | T | NM_007118 | 0.1329 | neutral | 0.08 | 0.805 | 0.483 | SLC6A3 | 5 | 1414895 | G | A | NM_001044 | 0.9992 | deleterious | 0 | 1 | 0.998 | TRIO | 5 | 14364820 | G | T | NM_007118 | 0.2011 | neutral | 0.33 | 0.002 | 0.008 | TRIO | 5 | 14366984 | C | A | NM_007118 | 0.9883 | deleterious | 0.04 | 0.98 | 0.794 | TRIO | 5 | 14387688 | T | C | NM_007118 | 0.9595 | deleterious | 0.12 | 0.997 | 0.935 | TRIO | 5 | 14394220 | A | T | NM_007118 | 0.9999 | deleterious | 0 | 1 | 0.998 | TRIO | 5 | 14471427 | G | A | NM_007118 | 0.1857 | neutral | 0 | 0.017 | 0.008 |
|---|