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  • Variant: the variant coded as chr:position ref/alt
  • SNP Id: if the variant is included in dbSNP, this field will show the rsID, otherwise, it will be empty
  • Genes: if the variant overlaps with a gene, the gene symbol will be displayed here, otherwise, it will be empty. If it overlaps with more than one gene, they will be listed separated by comma
  • Type: type of variant, SNV (Single Nucleotide Variant), MNV (Multi-nucleotide Variant), CNV (Copy Number Variant), SV (Structural Variant) or INDEL (Insertion or deletion)
  • Consequence Type:  this is the predicted effect of the variant in the genome. If a variant has more than one consequence type (because it overlaps different transcripts and/or genes), the "worst" consequence will be displayed. Consequence types are also colour coded according to their impact to improve readability:
    • High impact in red
    • Moderate impact in orange
    • Low impact in blue
    • Modifier in green

Variant detail

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