View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
55218 | EXD2 | 14 | 69701564 |
Ref | Alt | Genotype | Validated Method |
G | C | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
13093.p1 | 150 | 23 | 7144 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.136 | 0.127 | 0.144 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.9877 | deleterious | 9.125 | |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
1 | 0.998 | 5.42 | |
dScore | CpG | Hydropathicity | Polarity |
3.542 | 0.3 | -2.6 |
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.