Submission ID: 0


Sample identifier = patient1
File_name=anemia.vcf
File_format=vcf4
Reference_genome=hg19
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.

download all filtering results
Step1:7980 variants Identify missense, nonsense and splicing variantsdownload
Step2:585 variants Remove variants in the 1000 Genomes Project(ALL) with MAF>0.01download
Step3:401 variants Remove variants in NHLBI-ESP 6500 exomes with MAF>0.01download
Step4:313 variants Remove variants in ExAC 65000 exomes with MAF>0.01download
Step5:14 genes Compile a list of candidate genes based on diseaes model download
variants_info
Exonic variant list from the wANNOVAR output after filtration, the last filter step with variants left will be used. (Total: 14)Variant List
Gene list from the wANNOVAR output, input into Phenolyzer (Total: 14)Input Gene List
The prioritized genes from Phenolyzer (Total: 11)Result Gene List
The network visualization Show