Exomiser Analysis Results for
Slartibartfast
Analysis Settings
Settings used for this analysis:
ExomiserSettings{vcfFilePath=Pfeiffer.vcf, pedFilePath=null, prioritiser=exomiser-mouse, maximumFrequency=1.0, minimumQuality=0.0, geneticInterval=null, removePathFilterCutOff=false, removeDbSnp=false, removeOffTargetVariants=true, candidateGene=, modeOfInheritance=AUTOSOMAL_DOMINANT, diseaseId=OMIM:101600, hpoIds=[], seedGeneList=[], numberOfGenesToShow=0, outFileName=results/Pfeiffer-exomiser-results, outputFormat=[HTML], diseaseGeneFamilyName=, buildVersion=, buildTimestamp=}
Filtering Summary
Filter | Report | Passed filter | Failed filter |
---|---|---|---|
Frequency |
|
16916 | 20793 |
Variant Type Distribution
Variant Type | Slartibartfast |
---|---|
MISSENSE | 1 |
Analyzed samples
//if there is a multi-sample pedigree we want to see the analysis: //HTMLTable.writePedigreeTable()affected: red, parent of affected: light blue, unaffected: white
Sample name: manuel | |||||||
fam | if (this.pedigree.isNthPersonAffected(i)) {id | } else if (this.pedigree.isNthPersonParentOfAffected(i)) {id | } else {id | }fathID | mothID | sex | disease |
Prioritised Genes
- Pathogenicity Data:
- 1.00
- No pathogenicity data
- Mutation Taster: 0.999 (P)
- Frequency Data:
- No frequency data
- 1000Genomes: 0.02%
- Pathogenicity Data:
- 1.00
- No pathogenicity data
- Mutation Taster: 0.999 (P)
- Frequency Data:
- No frequency data
- 1000Genomes: 0.02%
Unanalysed Variants
About
The Exomizer is a Java program that functionally annotates variants from whole-exome sequencing data starting from a VCF file (version 4). The functional annotation code is based on Jannovar and uses UCSC KnownGene transcript definitions and hg19 genomic coordinates
Variants are prioritized according to user-defined criteria on variant frequency, pathogenicity, quality, inheritance pattern, and model organism phenotype data. Predicted pathogenicity data was extracted from the dbNSFP resource.
Developed by the Computational Biology and Bioinformatics group at the Institute for Medical Genetics and Human Genetics of the Charité - Universitätsmedizin Berlin, the Mouse Informatics Group at the Sanger Institute and the Smedley group at Queen Mary University of London.
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