View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
1114 | CHGB | 20 | 5903482 |
Ref | Alt | Genotype | Validated Method |
G | A | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
12063.s1 | 59 | 5 | 13228 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.047 | 0.043 | 0.051 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.5125 | deleterious | 0.16 | 3.49 |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
1 | 0.99 | 2.125 | 5.45 |
dScore | CpG | Hydropathicity | Polarity |
2.027 | -2.7 | 2.4 |
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.