View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
5470 | PPEF2 | 4 | 76812814 |
Ref | Alt | Genotype | Validated Method |
G | T | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
11336.p1 | 170 | 30 | 14826 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.087 | 0.082 | 0.092 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.3768 | neutral | 0.35 | 1.241 |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
0.868 | 0.312 | 2.075 | 3.26 |
dScore | CpG | Hydropathicity | Polarity |
2.009 | -3.7 | 1.3 |
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.