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 | RPL14 | 3 | 40500225 | C | A | NM_001034996 | 0.0887 | neutral | 0 | 0 | 0 | CTNNB1 | 3 | 41274877 | G | A | NM_001098209 | 0.9612 | deleterious | 0 | 0 | 0 | ULK4 | 3 | 41961295 | G | A | NM_017886 | 0.6235 | deleterious | 0.2 | 0.143 | 0.076 | HHATL | 3 | 42735111 | C | T | NM_020707 | 0.2226 | neutral | 0 | 1 | 0.998 | SNRK | 3 | 43389739 | A | G | NM_001100594 | 0.0209 | neutral | 0 | 0 | 0 | ZNF197 | 3 | 44683454 | G | C | NM_006991 | 0.2021 | neutral | 0.55 | 0.994 | 0.707 | TMEM42 | 3 | 44905765 | G | A | NM_144638 | 0.1276 | neutral | 0.36 | 0.003 | 0.005 | LARS2 | 3 | 45518073 | C | A | NM_015340 | 0.236 | neutral | 0.03 | 0.072 | 0.057 | SLC6A20 | 3 | 45801393 | T | C | NM_022405 | 0.4925 | neutral | 0.63 | 0.32 | 0.325 | FYCO1 | 3 | 46003735 | C | T | NM_024513 | 0.6852 | deleterious | 0.18 | 1 | 0.994 | FYCO1 | 3 | 46008983 | G | A | NM_024513 | 0.2332 | neutral | 0 | 0.993 | 0.528 | CCR5 | 3 | 46414557 | T | A | NM_000579 | 0.1602 | neutral | 0 | 0 | 0 | CCRL2 | 3 | 46449863 | G | A | NM_001130910 | 0.0538 | neutral | 0.03 | 0.175 | 0.093 | ALS2CL | 3 | 46712490 | G | A | NM_182775 | 0.0063 | neutral | 0 | 0 | 0 | ALS2CL | 3 | 46719860 | T | C | NM_001190707 | 0.1975 | neutral | 0 | 0.204 | 0.077 | NBEAL2 | 3 | 47036870 | G | A | NM_015175 | 0.008 | neutral | 0 | 0.001 | 0.001 | ITPR1 | 3 | 4703923 | G | C | NM_001168272 | 0.956 | deleterious | 0.25 | 0 | 0 | KLHL18 | 3 | 47376220 | G | A | NM_025010 | 0.9864 | deleterious | 0.03 | 0.78 | 0.104 | SMARCC1 | 3 | 47702879 | T | C | NM_003074 | 0.968 | deleterious | 0.01 | 0.791 | 0.368 | SMARCC1 | 3 | 47777540 | A | G | NM_003074 | 0.5755 | deleterious | 0 | 0.494 | 0.176 |
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