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 | UVSSA | 4 | 1377656 | A | C | NM_020894 | 0.8876 | deleterious | 0.09 | 0.947 | 0.544 | NAA15 | 4 | 140272765 | G | T | NM_057175 | 0.9903 | deleterious | 0.03 | 0.994 | 0.951 | SMARCA5 | 4 | 144442658 | C | A | NM_003601 | 0.9638 | deleterious | 0.19 | 0.607 | 0.392 | GYPE | 4 | 144797973 | C | T | NM_002102 | 0.0033 | neutral | 0 | 0 | 0 | POU4F2 | 4 | 147561147 | C | A | NM_004575 | 0.3996 | neutral | 0.37 | 1 | 0.968 | LRBA | 4 | 151749715 | G | T | NM_001199282 | 0.1394 | neutral | 0 | 0.145 | 0.107 | TRIM2 | 4 | 154216846 | G | A | NM_001130067 | 0.8206 | deleterious | 0 | 0.979 | 0.525 | DCHS2 | 4 | 155241851 | C | T | NM_017639 | 0.3025 | neutral | 0 | 1 | 1 | RBM46 | 4 | 155719189 | T | G | NM_001277171 | 0.0329 | neutral | 0 | 0.988 | 0.911 | GUCY1A3 | 4 | 156634254 | T | A | NM_001130685 | 0.5035 | deleterious | 0 | 0 | 0 | ASIC5 | 4 | 156764934 | T | C | NM_017419 | 0.0399 | neutral | 0 | 0 | 0.008 | BST1 | 4 | 15707209 | C | A | NM_004334 | 0.9767 | deleterious | 0 | 1 | 0.986 | GLRB | 4 | 158091801 | G | A | NM_000824 | 0.9857 | deleterious | 0.38 | 0.997 | 0.979 | GRIA2 | 4 | 158262484 | C | T | NM_001083620 | 0.5345 | deleterious | 0 | 1 | 0.998 | RAPGEF2 | 4 | 160264456 | C | G | NM_014247 | 0.7022 | deleterious | 0 | 1 | 0.999 | FSTL5 | 4 | 162697058 | C | T | NM_001128427 | 0.1673 | neutral | 0 | 0.999 | 0.954 | DDX60 | 4 | 169195105 | C | G | NM_017631 | 0.103 | neutral | 0.07 | 0.858 | 0.616 | CLCN3 | 4 | 170618808 | G | A | NM_001243372 | 0.029 | neutral | 0 | 0.018 | 0.05 | GALNTL6 | 4 | 173150811 | T | G | NM_001034845 | 0.0318 | neutral | 0 | 0.118 | 0.054 | GALNT7 | 4 | 174223211 | G | T | NM_017423 | 0.2926 | neutral | 0 | 0.999 | 0.961 |
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