View the Detailed Mosaic Information from PubMed ID: 28867142
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 23345 | SYNE1 | 6 | 152782817 |
| Ref | Alt | Genotype | Validated Method |
| G | A | Mosaic | |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 13793.p1 | 225 | ||
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| exonic | |||
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.754 | deleterious | 5.226 | |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.997 | 0.973 | 2.44 | 5.16 |
| dScore | CpG | Hydropathicity | Polarity |
| 1.046 | 2.4 | -2.2 |
Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes. At the same time, iFish alsoprovides functional annotations from other classifiers such as: SIFT, Polyphen2, and MutationTaster2.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.