View the Detailed Mosaic Information from PubMed ID: 28867142
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 84288 | EFCAB2 | 1 | 245250572 |
| Ref | Alt | Genotype | Validated Method |
| G | T | Mosaic | |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 11382.p1 | 231 | ||
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| exonic | |||
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.1287 | neutral | 0 | 6.818 |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.052 | 0.072 | 4.47 | |
| dScore | CpG | Hydropathicity | Polarity |
| 0.666 | 2.6 | -0.5 |
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.