View the Detailed Mosaic Information from PubMed ID: 28867142
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 50509 | COL5A3 | 19 | 10087238 |
| Ref | Alt | Genotype | Validated Method |
| G | A | Parental Mosaic Transmitted | |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 11411.fa | 85 | ||
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| exonic | |||
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.1874 | neutral | 0.73 | 2.439 |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.136 | 0.153 | 1.435 | 2.31 |
| dScore | CpG | Hydropathicity | Polarity |
| 0.253 | 5.4 | -3.1 | |
| 50509 | COL5A3 | 19 | 10092741 |
| Ref | Alt | Genotype | Validated Method |
| C | T | Mosaic | |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 11506.p1 | 356 | ||
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| exonic |
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.