View the Detailed Mosaic Information from PubMed ID: 28867142
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 23025 | UNC13A | 19 | 17720779 |
| Ref | Alt | Genotype | Validated Method |
| C | T | Mosaic | |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 13676.p1 | 126 | ||
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| exonic | |||
| 23025 | UNC13A | 19 | 17768899 |
| Ref | Alt | Genotype | Validated Method |
| C | G | Parental Mosaic Transmitted | |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 14264.mo | 91 | ||
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| exonic | |||
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.4526 | neutral | 5.487 | |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.895 | 4.64 | ||
| dScore | CpG | Hydropathicity | Polarity |
| 0 | -1.8 |
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.