For the complete documentation index, see llms.txt. This page is also available as Markdown.

Search across variant types

The Search tab finds every variant in the genes you name, across all variant types at once: small, structural, copy number, tandem repeat, paralog, and methylation. Use it when you have a candidate gene in mind and want to see everything the case holds for it, not just the priority findings.

The Search tab sits between Summary and the variant-type tabs. You can also reach it from Search all variants → on the Summary tab.

  1. Open the Search tab. Nothing loads until you search.

  2. In Genes, type a gene symbol and press Enter. Add as many genes as you need.

    • To start from the case itself, click one of the suggested genes: genes the pipeline flagged in this case. These are a starting point, not a filter.

  3. Review the results. A strip above the table shows how many matches each variant type returned (SNV, SV, CNV, TR, PARA, METH).

  4. Switch between All variants (the default) and Priority only to narrow the list to priority findings.

  5. Click a row to open the variant drawer. Use its previous/next controls to step through the search results.

The results table

Column
Description

Type

The variant type.

Gene

The gene that matched your search.

Automated Classification

The pipeline's own classification.

User Classification

A reviewer's classification, where one was made.

Relation

How the variant relates to the gene: in gene (annotated to it) or overlaps (within the gene or within 2 kb of it).

Coordinate

The variant's location.

Effect

A one-line summary, tailored to the variant type.

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