Reference information panes

Up to the following ten reference information panes can be displayed when the Variant tab opens:

Database	Description
OMIM Data pane	Displays the information for the variant from the OMIM (Online Mendelian Inheritance in Man) database. Note: To view OMIM data, OMIM settings must be configured for your Geneticist Assistant installation. See Backing up the Geneticist Assistant Database.)
LOVD Data pane	Displays the information for the variant from the LOVD (Leiden Open Variation Database) database.
World-Wide LOVD Data pane	Displays information for the variant from the world-wide LOVD (Leiden Open Variation Database) world-wide database.
CIViC Data pane	Displays information for the variant from the CIViC (Clinical Interpretations of Variants in Cancer) database.
gnomAD Data pane	Displays information for the variant from the gnomAD (Genome Aggregation Database) database.
dbSNP (*/00-All.vcf) pane	Displays the information for the variant from the dbSNP database.
Exome Variant Server (/ESP.vcf) pane	Displays the information for the variant from the Exome Variant Server database for the NHLBI GO Exome Sequencing Project (ESP).
Exome Aggregation Consortium (ExAC.r..sites.vep.vcf) pane	Displays the information for the variant from the Exome Aggregation Consortium database for selected global sequencing projects.
ClinVar (*/clinvar_00-latest.vcf) pane	Displays the information for the variant from the ClinVar database.
dbNSFP pane	Displays the information for the variant from the dbNSFP database.

You can right-click any information in any of these reference information panes to open a context menu with the following options:

The context menu for a reference information pane is not enabled if the pane is blank.

Option	Description
Submit as Supporting Info	Submits the information in the field as supporting information for a variant. See To add supporting information for a variant.
Add Values to Variant Table	Adds values from a selected field in the Reference database to the Variant pane and the Variants pane on the Sample Variant Data sub-tab on the Sample tab. You can also create a custom formula based on multiple fields and add the resulting value to the these same variant panes and tables. See To add fields from a reference database to variant tables and panes or To add a custom field to variant tables and panes.

Option

Description

Submit as Supporting Info

Submits the information in the field as supporting information for a variant. See To add supporting information for a variant.

Add Values to Variant Table

Adds values from a selected field in the Reference database to the Variant pane and the Variants pane on the Sample Variant Data sub-tab on the Sample tab. You can also create a custom formula based on multiple fields and add the resulting value to the these same variant panes and tables. See To add fields from a reference database to variant tables and panes or To add a custom field to variant tables and panes.