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Variant Details ​

Clicking a row in the variant table opens the Variant Details Panel on the right side of the screen. This panel provides comprehensive information about the selected variant.

Variant details panel with identity, scores, and external links

Panel Sections ​

Variant Identity ​

Shows the genomic coordinates (chr:pos:ref:alt) and any colocated variants.

Transcripts ​

Displays transcript annotations with MANE Select and canonical transcript indicators. You can fetch additional transcript data from VEP on demand.

Annotation Scores ​

Key pathogenicity and population scores:

  • gnomAD AF — Population allele frequency
  • CADD — Combined Annotation Dependent Depletion score
  • REVEL — Rare Exome Variant Ensemble Learner score (if enriched)
  • AlphaMissense — Protein structure-based pathogenicity (if enriched)
  • SpliceAI — Splice prediction scores (if enriched)

ACMG Classification ​

Quick-classify with one-click chips (P, LP, VUS, LB, B) or open the evidence editor for detailed ACMG/AMP criteria. See Annotations for details.

Tags ​

Assign custom tags to organize variants for review.

Comments ​

Add global or per-case comments to document your analysis reasoning.

Quick links to external databases:

  • UCSC Genome Browser
  • gnomAD
  • ClinVar
  • And any custom links configured in Settings

Resizing ​

Drag the left edge of the panel to resize it. Your preferred width is saved.