View the Detailed Mosaic Information from PubMed ID: 28503910
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 6721 | SREBF2 | 22 | 42294664 |
| Ref | Alt | Genotype | Validated Method |
| A | G | mosaic | PASM |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 11415.p1 | 25 | 7 | 4876 |
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| 0.346 | 0.332 | 0.359 | exonic |
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.0059 | neutral | 1 | 0.243 |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0 | 0.001 | -1.3 | -2.6 |
| dScore | CpG | Hydropathicity | Polarity |
| -0.298 | -0.3 | 0.7 |
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.