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 | PPM1J | 1 | 113254648 | A | G | NM_005167 | 0.29 | neutral | 0.18 | 0.946 | 0.809 | SLC16A1 | 1 | 113460234 | A | G | NM_001166496 | 0.9995 | deleterious | 0 | 0.977 | 0.936 | DENND2C | 1 | 115153709 | C | T | NM_198459 | 0.0642 | neutral | 0 | 0.531 | 0.263 | CSDE1 | 1 | 115268874 | A | G | NM_001242893 | 0.2936 | neutral | 0 | 0 | 0 | VANGL1 | 1 | 116206697 | G | A | NM_001172411 | 0.9313 | deleterious | 0 | 1 | 0.999 | ATP1A1 | 1 | 116943617 | G | A | NM_001160234 | 0.7546 | deleterious | 0 | 0 | 0 | PTGFRN | 1 | 117503940 | G | A | NM_020440 | 0.0815 | neutral | 0.48 | 0.313 | 0.028 | PTGFRN | 1 | 117527332 | C | T | NM_020440 | 0.7667 | deleterious | 0.31 | 0.027 | 0.007 | TTF2 | 1 | 117632812 | C | A | NM_003594 | 0.7743 | deleterious | 0.04 | 1 | 1 | TTF2 | 1 | 117633170 | G | A | NM_003594 | 0.948 | deleterious | 0.01 | 1 | 0.998 | SPAG17 | 1 | 118566055 | C | T | NM_206996 | 0.4037 | neutral | 0.15 | 1 | 0.997 | CLCN6 | 1 | 11888605 | G | A | NM_001256959 | 0.943 | deleterious | 0 | 0.999 | 0.974 | MIIP | 1 | 12082414 | A | C | NM_021933 | 0.0514 | neutral | 0.63 | 0.965 | 0.647 | TNFRSF8 | 1 | 12175658 | G | A | NM_001281430 | 0.2987 | neutral | 0 | 0 | 0 | SCNN1D | 1 | 1225729 | G | A | NM_001130413 | 0.0824 | neutral | 0 | 1 | 0.995 | VPS13D | 1 | 12336770 | C | T | NM_015378 | 0.9913 | deleterious | 0 | 0.999 | 0.996 | HNRNPCL1 | 1 | 12907860 | C | T | NM_001013631 | 0.005 | neutral | 0.45 | 0 | 0 | ATAD3B | 1 | 1423250 | C | T | NM_001317238 | 0.0078 | neutral | 0 | 0 | 0 | ATAD3B | 1 | 1425957 | C | T | NM_001317238 | 0.0078 | neutral | 0 | 0 | 0 | ITGA10 | 1 | 145534964 | G | A | NM_001303041 | 0.0731 | neutral | 0 | 0 | 0 |
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