View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
84249 | PSD2 | 5 | 139219740 |
Ref | Alt | Genotype | Validated Method |
C | G | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
13093.p1 | 161 | 10 | 4393 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.056 | 0.049 | 0.063 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.2056 | neutral | 0.3 | 0.902 |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
0.393 | 0.181 | 2.215 | -0.35 |
dScore | CpG | Hydropathicity | Polarity |
0.593 | -0.3 | 0.1 |
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.