Variant Xplorer

Variant Xplorer lets you search and filter genetic variants across the Indiana Biobank participant population.

https://biobank.sca.iu.edu/variantXplorer

Two Ways to Use Variant Xplorer

Standalone — open Variant Xplorer directly to start a new search from scratch. Use this when you have a specific variant, gene, or region in mind and want to explore what's present in the participant population.

From the Cohort Builder — when building a Genotype Cohort, an embedded version of Variant Xplorer appears inline. Use it to define your variant criteria, then save the results as a cohort. You can also expand out to the full Variant Xplorer view from within the Cohort Builder.

Searching for Variants

Enter a query in any of these forms:

• Genomic coordinates (e.g., chr7:140453136)
• Gene symbol (e.g., BRAF)
• rsID (e.g., rs113488022)

Filtering Results

Narrow your results using:

• Variant type — SNV, indel, structural variant
• Allele frequency — set thresholds to focus on rare or common variants
• Predicted impact — high, moderate, or low functional impact
• Functional annotations — consequence terms, conservation scores, pathogenicity predictions

Building a Genotype Cohort from Results

Once you have a set of variants of interest, use the Cohort Builder to define a Genotype Cohort based on those criteria. Participants carrying those variants will be included in the cohort.

See Cohort Builder — Building a Genotype Cohort for the full workflow.