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 | RIC1 | 9 | 5769178 | A | G | NM_001206557 | 0.0031 | neutral | 0 | 0 | 0 | KDM4C | 9 | 6849673 | A | G | NM_001146695 | 0.8067 | deleterious | 0 | 1 | 1 | KANK1 | 9 | 712508 | G | A | NM_153186 | 0.7109 | deleterious | 0 | 0 | 0 | TJP2 | 9 | 71849443 | T | C | NM_001170414 | 0.4182 | neutral | 0 | 0 | 0 | TJP2 | 9 | 71863039 | G | A | NM_001170414 | 0.2759 | neutral | 0 | 0 | 0 | FAM189A2 | 9 | 71986456 | A | C | NM_001127608 | 0.2448 | neutral | 0 | 0 | 0 | APBA1 | 9 | 72047457 | C | T | NM_001163 | 0.6095 | deleterious | 0.04 | 1 | 1 | PTAR1 | 9 | 72333476 | G | C | NM_001099666 | 0.1094 | neutral | 0.61 | 0.001 | 0.004 | KANK1 | 9 | 742297 | G | C | NM_153186 | 0.589 | deleterious | 0 | 0 | 0 | TMC1 | 9 | 75355093 | C | T | NM_138691 | 0.5352 | deleterious | 0.19 | 0.99 | 0.724 | ANXA1 | 9 | 75777757 | G | A | NM_000700 | 0.4809 | deleterious | 0 | 0.943 | 0.404 | TRPM6 | 9 | 77367203 | T | C | NM_001177310 | 0.3787 | neutral | 0 | 0 | 0 | TRPM6 | 9 | 77416901 | G | T | NM_001177310 | 0.657 | deleterious | 0 | 0 | 0 | TRPM6 | 9 | 77454973 | C | T | NM_001177310 | 0.657 | deleterious | 0 | 0 | 0 | PRUNE2 | 9 | 79323453 | C | T | NM_001308047 | 0.009 | neutral | 0 | 0 | 0 | PRUNE2 | 9 | 79325023 | G | A | NM_001308047 | 0.026 | neutral | 0 | 0 | 0 | PRUNE2 | 9 | 79465455 | C | T | NM_001308047 | 0.3812 | neutral | 0 | 0 | 0 | TLE1 | 9 | 84199163 | C | T | NM_001303104 | 0.0223 | neutral | 0 | 0 | 0 | SPATA31D1 | 9 | 84607958 | A | G | NM_001001670 | 0.0445 | neutral | 0.12 | 0.34 | 0.241 | PTPRD | 9 | 8507360 | G | A | NM_001171025 | 0.5562 | deleterious | 0 | 0.995 | 0.892 |
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