VCF formated file (.gz acceptable) for single individual or multiple family members
PED format file to indicate family relationships, sex and affected status. Note: the affected status code we used is: 0 unaffected,1 affected,2 proband and -9 missing.
File of known disease related genes, with one HGNC gene symbol per line.
File of genes that should be reported as incidental findings if known or damaging sequence variants found, with one HGNC gene symbol per line.
File of known pathogenic/benign evidences for sequence variants. The evidences definition is based on the ACMG guidelines, such as PVS1, PS1 etc. The Sequence variant is based on the ANNOVAR format.


Fill in disease names, OMIM IDs or HPO terms, and seperate multiple terms using semicolon. Example: autism ; MIM:273750 ; HP:0000717
Disease prevalence in population
Whether the disease or phenotype in the proband was observed in other family members.
In the case of family data analysis, whether the parentage was experimentally confirmed using genetic markers.
Version of the human genome reference sequence that was used for the input variants file production.
Allele frequency for specific human populations of the 1000G database should be used.
Allele frequency for specific human populations of the ESP database should be used.
Allele frequency for specific human populations of the ExAC database should be used.