View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
1826 | DSCAM | 21 | 41684236 |
Ref | Alt | Genotype | Validated Method |
G | A | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
12163.p1 | 42 | 5 | 3506 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.011 | 0.008 | 0.016 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.9051 | deleterious | 0.04 | 2.522 |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
3.49 | 4.57 | ||
dScore | CpG | Hydropathicity | Polarity |
3.6 | -5.1 | ||
1826 | DSCAM | 21 | 41550838 |
Ref | Alt | Genotype | Validated Method |
G | A | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
12492.s1 | 78 | 7 | 3697 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.06110858 | 0.05151988 | 0.07173417 | intronic |
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.