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 | TRIO | 5 | 14471479 | G | A | NM_007118 | 0.8432 | deleterious | 0.44 | 0.988 | 0.836 | TRIO | 5 | 14482826 | C | G | NM_007118 | 0.7866 | deleterious | 1 | 0.008 | 0.011 | TRIO | 5 | 14485178 | G | C | NM_007118 | 0.6699 | deleterious | 0 | 0.004 | 0.003 | TRIO | 5 | 14485261 | G | C | NM_007118 | 0.852 | deleterious | 0.19 | 0.005 | 0.007 | TRIO | 5 | 14498270 | G | A | NM_007118 | 0.5215 | deleterious | 0 | 0.978 | 0.69 | PLAC8L1 | 5 | 145477815 | G | A | NM_001029869 | 0.0939 | neutral | 0.18 | 0.003 | 0.001 | RBM27 | 5 | 145603023 | C | T | NM_018989 | 0.4695 | deleterious | 0.04 | 0.608 | 0.154 | POU4F3 | 5 | 145719811 | G | C | NM_002700 | 0.8212 | deleterious | 0 | 0.872 | 0.461 | TCERG1 | 5 | 145890147 | G | A | NM_001040006 | 0.4017 | neutral | 0 | 1 | 0.989 | DPYSL3 | 5 | 146804493 | C | T | NM_001197294 | 0.0642 | neutral | 0.17 | 0.205 | 0.052 | FBXO38 | 5 | 147821679 | A | G | NM_030793 | 0.1052 | neutral | 0 | 0.571 | 0.21 | SLC26A2 | 5 | 149360630 | C | T | NM_000112 | 0.1005 | neutral | 0.01 | 1 | 1 | HMGXB3 | 5 | 149390017 | C | T | NM_014983 | 0.0226 | neutral | 0 | 0 | 0 | SLC6A7 | 5 | 149584134 | G | A | NM_014228 | 0.9997 | deleterious | 0 | 0.034 | 0.081 | CAMK2A | 5 | 149631595 | T | A | NM_015981 | 0.9999 | deleterious | 0 | 1 | 0.999 | TCOF1 | 5 | 149771544 | C | T | NM_000356 | 0.4875 | neutral | 0.12 | 0.484 | 0.324 | NDST1 | 5 | 149912558 | T | C | NM_001301063 | 0.9475 | deleterious | 0 | 0 | 0 | ANXA6 | 5 | 150509024 | C | T | NM_001193544 | 0.1034 | neutral | 0 | 0 | 0 | GM2A | 5 | 150646399 | G | A | NM_000405 | 0.0687 | neutral | 0.2 | 0 | 0 | SLC36A2 | 5 | 150723155 | C | A | NM_181776 | 0.994 | deleterious | 0 | 1 | 1 |
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