View the Detailed Mosaic Information from PubMed ID: 28867142
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 2131 | EXT1 | 8 | 118830706 |
| Ref | Alt | Genotype | Validated Method |
| C | T | Mosaic | |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 14555.p1 | 177 | ||
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| exonic | |||
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.8884 | deleterious | 0.04 | 5.65 |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.943 | 0.823 | 2.525 | 3.61 |
| dScore | CpG | Hydropathicity | Polarity |
| 1.272 | -2.3 | -0.2 |
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.