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 | ZNF862 | 7 | 149544968 | G | A | NM_001099220 | 0.0842 | neutral | 0.91 | 0 | 0 | REPIN1 | 7 | 150068814 | G | A | NM_001099696 | 0.344 | neutral | 0 | 0.994 | 0.9 | TMEM176B | 7 | 150493495 | G | A | NM_001101311 | 0.0399 | neutral | 0 | 0 | 0 | ASIC3 | 7 | 150747627 | A | T | NM_004769 | 0.1583 | neutral | 0 | 0.213 | 0.185 | KMT2C | 7 | 151836804 | G | C | NM_170606 | 0.6681 | deleterious | 0 | 0.956 | 0.482 | KMT2C | 7 | 151845251 | C | G | NM_170606 | 0.9636 | deleterious | 0 | 1 | 0.999 | KMT2C | 7 | 151845714 | G | A | NM_170606 | 0.8652 | deleterious | 0.07 | 0.996 | 0.993 | INTS1 | 7 | 1542695 | G | A | NM_001080453 | 0.7223 | deleterious | 0 | 0.242 | 0.036 | DPP6 | 7 | 154561183 | G | A | NM_001290252 | 0.825 | deleterious | 0 | 0 | 0 | AGMO | 7 | 15470670 | G | A | NM_001004320 | 0.6438 | deleterious | 0.05 | 0.376 | 0.58 | HTR5A | 7 | 154876164 | C | A | NM_024012 | 0.592 | deleterious | 0.38 | 0.963 | 0.552 | RBM33 | 7 | 155504129 | C | T | NM_053043 | 0.8735 | deleterious | 0.11 | 0.939 | 0.534 | LMBR1 | 7 | 156619374 | T | C | NM_022458 | 0.8201 | deleterious | 0 | 0.96 | 0.782 | UBE3C | 7 | 157041159 | C | T | NM_014671 | 0.9207 | deleterious | 0.2 | 0.796 | 0.772 | PTPRN2 | 7 | 157959743 | C | T | NM_001308267 | 0.0074 | neutral | 0 | 0 | 0 | WDR60 | 7 | 158663939 | A | G | NM_018051 | 0.0012 | neutral | 0 | 0.005 | 0.004 | TMEM184A | 7 | 1587440 | G | A | NM_001097620 | 0.9937 | deleterious | 0 | 0.998 | 0.987 | SNX13 | 7 | 17843170 | T | C | NM_015132 | 0.8027 | deleterious | 0 | 0.111 | 0.016 | HDAC9 | 7 | 18624949 | C | T | NM_001204145 | 0.6724 | deleterious | 0 | 0 | 0 | MACC1 | 7 | 20199071 | T | C | NM_182762 | 0.6851 | deleterious | 0 | 0.877 | 0.265 |
|---|