View the Detailed Mosaic Information from PubMed ID: 28503910
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 9453 | GGPS1 | 1 | 235505485 |
| Ref | Alt | Genotype | Validated Method |
| G | A | mosaic | PASM |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 11897.p1 | 101 | 6 | 4427 |
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| 0.079 | 0.071 | 0.088 | exonic |
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.6642 | deleterious | 4.75 | |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.143 | 0.059 | 1.32 | 5.26 |
| dScore | CpG | Hydropathicity | Polarity |
| 0.797 | -0.4 | -1 |
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.