Variant page

The Variant page showcasing the comprehensive variant information is accessible from the Variant table by selecting the corresponding variant row with a click. Once you're on the Variant page, you can move between variants using left and right arrow keys of your keyboard.

​Note: You can alternatively use arrows on either side of the Variant page window.

The Variant page is comprised of:

1. Top bar. Displays Case ID, gene symbol, genomic DNA-level description of the variant, variant tags, and a link to your Curate database. If the variant is already in your Curate database, you will see an Open Curate button. Otherwise, you will see an Export to Curate button.

2. Navigation panel (left).

3. Page body:

   1. Summary tab. Highlights core variant-related information from other tabs

   2. Clinical Significance tab. Reports essential variant- and gene-level information and indicates gene-related diseases.

   3. Quality tab. Outlines the major variant quality parameters in each sample and demonstrates the family tree with the zygosity for each sequenced sample.

   4. Visualization tab. Features the IGV-based BAM file viewer.

   5. Population Statistics tab. Addresses alternative allele frequency, alternative allele count, and the number of homozygotes in public and internal databases.

   6. Related Cases tab. Displays statistics regarding the pathogenicity and tags assigned to the variant under review, incorporating data from previous cases within both your organization and networks.

   7. Evidence tab. Highlights user-selected variant pathogenicity, ACMG class (for a sequence or a genomic variant), and interpretation notes.

4. Expandable Variant activity panel (right). Records variant-level user activities, such as tagging a variant, adding comments or evidence notes, or editing the evidence graph. Variant activity panel pops up upon clicking the Activities button.