Submit your variants

Provide variants of one individual.

It is important to specify the gender of this individual, if known. ORVAL treats differently X-linked variants in males.

Submit variants either as a variant list or a VCF file.

ORVAL can analyse single nucleotide variants and small insertions/deletions.

Use the GRCh37/hg19 genome assembly format.

If you upload a VCF from a whole exome analysis, select a relevant gene panel of up to 300-400 genes.

You can filter your variant list/VCF file with a gene panel automatically in this page.

Click on the buttons for help.

You can further consult our Input Data, Data Filtering and Data Annotation documentation.

IMPORTANT NOTE: ORVAL is NOT designed to be used for a whole exome analysis, as the huge number of combinations that you will obtain may impede the detection of any True Positive results. If you attempt to run an analysis with a whole exome, your job may fail.

IMPORTANT UPDATE: ORVAL has been updated to use up-to-date annotations and fix issues of missing intronic & splicing variants.
Check the Updates page for more information.

Patient information

Sex

Identifier

Insert a variant list

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 (max. 300-400) that can be 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.