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 | CPT1A | 11 | 68548130 | G | A | NM_001031847 | 0.9591 | deleterious | 0 | 1 | 0.985 | IGHMBP2 | 11 | 68701932 | G | A | NM_002180 | 0.8907 | deleterious | 0.1 | 0.999 | 0.984 | DEAF1 | 11 | 687917 | C | T | NM_001293634 | 0.6759 | deleterious | 0 | 0 | 0 | DEAF1 | 11 | 687919 | A | G | NM_001293634 | 0.7282 | deleterious | 0 | 0 | 0 | ZNF215 | 11 | 6977626 | G | A | NM_013250 | 0.0664 | neutral | 1 | 0.482 | 0.04 | PPFIA1 | 11 | 70176336 | C | T | NM_003626 | 0.9257 | deleterious | 0 | 0.999 | 0.976 | PPFIA1 | 11 | 70178154 | C | T | NM_003626 | 0.9406 | deleterious | 0 | 1 | 0.995 | NLRP14 | 11 | 7079615 | G | A | NM_176822 | 0.0779 | neutral | 0.04 | 0.992 | 0.934 | NUMA1 | 11 | 71726076 | C | T | NM_001286561 | 0.4617 | neutral | 0.05 | 0 | 0 | NUMA1 | 11 | 71727496 | G | T | NM_001286561 | 0.4453 | neutral | 0 | 0 | 0 | EPS8L2 | 11 | 720080 | A | T | NM_022772 | 0.3225 | neutral | 1 | 0.243 | 0.171 | FCHSD2 | 11 | 72598608 | A | C | NM_014824 | 0.0001 | neutral | 0 | 0 | 0 | C2CD3 | 11 | 73809244 | T | C | NM_001286577 | 0.7639 | deleterious | 0 | 0 | 0 | C2CD3 | 11 | 73850002 | G | C | NM_001286577 | 0.5919 | deleterious | 0 | 0 | 0 | LIPT2 | 11 | 74203256 | T | A | NM_001144869 | 0.9197 | deleterious | 0.04 | 0.949 | 0.514 | OR2AT4 | 11 | 74800417 | A | C | NM_001005285 | 0.8365 | deleterious | 0.18 | 0.999 | 0.988 | ARRB1 | 11 | 74994486 | C | A | NM_004041 | 0.9898 | deleterious | 0 | 1 | 0.998 | MAP6 | 11 | 75319204 | G | A | NM_033063 | 0.8272 | deleterious | 0.01 | 1 | 0.999 | TALDO1 | 11 | 758966 | A | G | NM_006755 | 0.087 | neutral | 1 | 0 | 0.002 | TALDO1 | 11 | 760129 | T | C | NM_006755 | 0.9863 | deleterious | 0 | 0.997 | 0.954 |
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