View the Detailed Mosaic Information from PubMed ID: 28503910
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 83872 | HMCN1 | 1 | 185833720 |
| Ref | Alt | Genotype | Validated Method |
| C | T | mosaic | PASM |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 12478.p1 | 262 | 56 | 8360 |
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| 0.218 | 0.209 | 0.227 | exonic |
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.0529 | neutral | 0.23 | 4.869 |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.978 | 0.885 | 0.895 | 5.43 |
| dScore | CpG | Hydropathicity | Polarity |
| 2.176 | 5.2 | -3.4 |
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.