Submission ID: 1

Sample identifier = anemia
Disease_model=rare recessive disease
Processed variants=30726
phenotype is hemolytic anemia

exome summary results view CSV file TXT file
genome summary results view CSV file TXT file

(click to view details about this pipeline)
Initially, 30726 variants were fed into the annotation pipeline and 0 variants were detected as invalid input.

Step1:8015 variants Identify missense, nonsense and splicing variantsdownload
Step2:586 variants Remove variants in the 1000 Genomes Project(ALL) with MAF>0.01download
Step3:331 variants Remove variants in gnomAD exome database with MAF>0.01download
Step4:20 genes Compile a list of candidate genes based on diseaes model download
download all filtering results
Exonic variant list from the wANNOVAR output after filtration, the last filter step with variants left will be used. (Total: 20)Variant List
Gene list from the wANNOVAR output, input into Phenolyzer (Total: 20)Input Gene List
The prioritized genes from Phenolyzer (Total: 15)Result Gene List
The network visualization Show