View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
53904 | MYO3A | 10 | 26455055 |
Ref | Alt | Genotype | Validated Method |
C | T | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
12070.p1 | 128 | 11 | 4201 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.105 | 0.095 | 0.114 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.4409 | neutral | 0.55 | 5.584 |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
0.392 | 0.241 | 0.015 | 6.07 |
dScore | CpG | Hydropathicity | Polarity |
0.534 | 2.4 | -2.2 |
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.