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 | PLXNA1 | 3 | 126730873 | G | A | NM_032242 | 0.9932 | deleterious | 0 | 1 | 0.991 | PLXNA1 | 3 | 126749110 | G | A | NM_032242 | 0.9908 | deleterious | 0 | 0.999 | 0.929 | KBTBD12 | 3 | 127703015 | A | G | NM_207335 | 0.2359 | neutral | 0 | 0.1 | 0.014 | SEC61A1 | 3 | 127786872 | G | A | NM_013336 | 0.999 | deleterious | 0 | 0.999 | 0.99 | KIAA1257 | 3 | 128711946 | C | A | NM_020741 | 0.2737 | neutral | 0 | 1 | 0.994 | RAB43 | 3 | 128840285 | A | T | NM_001204883 | 0.0628 | neutral | 0 | 0 | 0 | IFT122 | 3 | 129185800 | A | G | NM_052989 | 0.0052 | neutral | 0 | 0 | 0 | COL6A6 | 3 | 130282383 | C | A | NM_001102608 | 0.1498 | neutral | 0.17 | 1 | 1 | NUDT16 | 3 | 131100722 | C | G | NM_001171906 | 0.1443 | neutral | 0 | 0 | 0 | MRPL3 | 3 | 131188574 | A | G | NM_007208 | 0.2125 | neutral | 0 | 0.01 | 0.15 | DNAJC13 | 3 | 132175637 | C | T | NM_015268 | 0.8212 | deleterious | 0 | 0.977 | 0.794 | DNAJC13 | 3 | 132247145 | C | T | NM_015268 | 0.8439 | deleterious | 0.05 | 0.079 | 0.037 | NUP210 | 3 | 13413397 | C | T | NM_024923 | 0.3384 | neutral | 0.44 | 1 | 0.998 | HDAC11 | 3 | 13522828 | A | T | NM_001136041 | 0.3631 | neutral | 0 | 0 | 0 | PCCB | 3 | 136016845 | G | A | NM_000532 | 0.9793 | deleterious | 0 | 1 | 1 | STAG1 | 3 | 136139953 | C | A | NM_005862 | 0.2555 | neutral | 0 | 0.83 | 0.631 | IL20RB | 3 | 136708288 | C | G | NM_144717 | 0.792 | deleterious | 0 | 0.957 | 0.806 | CNTN6 | 3 | 1371543 | G | A | NM_001289081 | 0.2679 | neutral | 0 | 0 | 0 | A4GNT | 3 | 137849888 | C | T | NM_016161 | 0.1915 | neutral | 0.62 | 0.993 | 0.62 | PRR23C | 3 | 138762808 | A | G | NM_001134657 | 0.0155 | neutral | 0.79 | 0.005 | 0.01 |
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