View the Detailed Mosaic Information from PubMed ID: 28503910
Gene ID | Gene Symbol | Chr | Position |
---|---|---|---|
20 | ABCA2 | 9 | 139905870 |
Ref | Alt | Genotype | Validated Method |
C | T | mosaic | PASM |
SSC ID | WES Depth | WES Alt Count | PASM Depth |
11881.s1 | 108 | 6 | 1728 |
PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
0.024 | 0.017 | 0.033 | exonic |
iFish Probablity | iFish Prediction | SIFT | Phylop |
0.2475 | neutral | 5.417 | |
Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
3.37 | |||
dScore | CpG | Hydropathicity | Polarity |
-0.4 | -1 |
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.