View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
10403 | NDC80 | 18 | 2595619 |
Ref | Alt | Genotype | Validated Method |
C | T | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
12842.p1 | 93 | 12 | 3112 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.082 | 0.072 | 0.092 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.0975 | neutral | 0.18 | 1.403 |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
0.18 | 0.032 | 1.955 | 3.46 |
dScore | CpG | Hydropathicity | Polarity |
1.572 | 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.