Submit your variants

You can provide a variant list of one individual for your analysis, either with a tab-separated variant list or a VCF file. For a correct analysis, you also have to provide the sex information about the patient (i.e. male/female), if this information is available. If you would like to run cohorts/trios, you can contact us.

ORVAL can analyse single nucleotide variants and small insertions/deletions in the format of the GRCh37/hg19 genome assembly.

You can consult our Input Data documentation for clarifications on how to correctly upload your data, the Data Filtering documentation on how your variants can be filtered or excluded, and the Data Annotation documentation for details on how ORVAL annotates your data.

NOTE1: At the moment ORVAL is not recommended for the analysis of complete patient exomes, due to the amount of False Positives that will be obtained. We highly recommend you to restrict your analysis to relevant gene panels for the disease of interest.
If your VCF/variant list contains the complete exome of an individual, you can still upload it in ORVAL and use the Variant Filtering and Gene Filtering options on this page before submitting your data.

NOTE2: Splicing and intronic variants are currently missing from the database. A general data and annotation update with the latest releases of the annotation features is coming soon (check the Updates page), where this issue is resolved.

Patient information

Sex

Identifier

Add variants manually

Upload a VCF file

Choose file ...

Try it with examples:

	Name	Variant count	Download
	Example_VCF_1	24
	Example_VCF_2	1800

Variant filtering

It is highly recommended to filter your variants based on the following proposed filtering options. You can unselect an option by clicking on its corresponding check-box.

ExAC MAF ≤

Remove Intergenic

Remove intronic/synonymous

Gene filtering

Upload a gene panel file to restrict your analysis only to a selected subset of genes present in your data.

Choose file (optional) ...

Example:

VCF_2_gene_panel_file

Job information

If you wish to launch your analysis in the background and get an email once it is completed, you can provide your email address below.
Please also check your spam folder, as the email may end up there.

We do not store any email information in our server.

If you are using ORVAL for your analysis, see how to cite us here.