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 | PDZD2 | 5 | 32087698 | G | A | NM_178140 | 0.0103 | neutral | 0 | 0 | 0 | ADAMTS12 | 5 | 33576539 | G | T | NM_030955 | 0.0784 | neutral | 0 | 0.022 | 0.009 | SLC45A2 | 5 | 33982500 | T | C | NM_001012509 | 0.0266 | neutral | 0 | 0 | 0.005 | C1QTNF3 | 5 | 34028963 | G | A | NM_030945 | 0.9493 | deleterious | 0.13 | 0.967 | 0.76 | C1QTNF3 | 5 | 34043091 | G | A | NM_181435 | 0.4003 | neutral | 0.02 | 0.009 | 0.008 | SPEF2 | 5 | 35740319 | G | A | NM_024867 | 0.8532 | deleterious | 0.15 | 1 | 0.984 | RANBP3L | 5 | 36255592 | C | T | NM_145000 | 0.8836 | deleterious | 0 | 0.998 | 0.98 | EGFLAM | 5 | 38418311 | C | A | NM_182798 | 0.4136 | neutral | 0 | 0.998 | 0.962 | RICTOR | 5 | 38947542 | A | T | NM_001285440 | 0.7821 | deleterious | 0 | 0 | 0 | C9 | 5 | 39289043 | A | G | NM_001737 | 0.9257 | deleterious | 0 | 0.998 | 0.947 | DAB2 | 5 | 39376856 | G | C | NM_001244871 | 0.0563 | neutral | 0 | 0.011 | 0.012 | PTGER4 | 5 | 40692019 | G | T | NM_000958 | 0.9813 | deleterious | 0.46 | 0.217 | 0.057 | MROH2B | 5 | 41048456 | G | C | NM_173489 | 0.7247 | deleterious | 0 | 0.144 | 0.173 | OXCT1 | 5 | 41850175 | T | C | NM_000436 | 0.9974 | deleterious | 0.01 | 1 | 0.996 | AHRR | 5 | 422895 | C | G | NM_001242412 | 0.3953 | deleterious | 0 | 0.583 | 0.51 | HMGCS1 | 5 | 43298925 | G | A | NM_001098272 | 0.9761 | deleterious | 0 | 0 | 0 | ICE1 | 5 | 5457449 | A | C | NM_015325 | 0.1882 | neutral | 0.02 | 0.979 | 0.892 | MAP3K1 | 5 | 56155672 | A | G | NM_005921 | 0.1691 | neutral | 1 | 0 | 0 | KIF2A | 5 | 61681329 | G | A | NM_001243952 | 0.9743 | deleterious | 0.03 | 0.973 | 0.286 | TRIM23 | 5 | 64887621 | G | A | NM_001656 | 0.8439 | deleterious | 0.02 | 0.982 | 0.715 |
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