This section is only available for variants.
Variant Type
Type of the variant (e.g., SNV, insertion, deletion, MNV, etc.)
Chromosome
Chromosome number, X, Y, or MT
Start
Start position.
Stop
Stop position.
Matched End Chromosome
Mate chromosome of a translocation.
Matched End Position
Mate position of a translocation.
Ref Allele
The reference allele.
Alt Allele
The alternate allele.
HGVSG
HGVSG nomenclature.
Selected Transcript HGVS
HGVSc and HGVSp (in both 3-letter and 1-letter form) change on the selected transcript.
ISCN
ISCN nomenclature.
Selected Transcript Exons
Exon impacted of the selected transcript.
Selected Transcript Consequences
Consequences of the variant on the selected transcript, in Sequence Ontology terms.
Selected Transcript Gene
Gene symbol of the selected transcript.
Exons
Exon number(s) and the total exons for the active transcript, as applicable. A comma-delimited list is used for multiple exons.
Cytogenetic Band
Cytoband of variant.
All Consequences
Consequences of the variant across all transcripts, in Sequence Ontology terms.
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Field Name
Description
Database
Database Description
IGV
Integrative Genomics Viewer (IGV) is an open-source genome browser and visualization tool used to observe biologically interesting patterns in genomic data sets, including sequence data, gene models, alignments, and data from DNA microarrays.
LOVD
The Leiden Open Variation Database (LOVD) is an open-source database focused on the combination between a gene and a genetic (heritable) disease.
UCSC Browser
An interactive database offering access to genome sequence data from various vertebrate and invertebrate species and major model organisms, integrated with a large collection of aligned annotations.
Ensembl
A bioinformatics project organizing biological information around the sequences of large genomes. It is a comprehensive source of stable automatic annotation of individual genomes, and of the synteny and orthology relationships between them..
gnomAD
A database that aggregates and harmonizes both exome and genome sequencing data from a wide variety of large-scale sequencing projects.
COSMIC
An online database of somatically acquired mutations found in human cancer. This link opens COSMIC in a new browser tab.
Google Scholar
Google Scholar provides a way to broadly search for scholarly literature. Search across many disciplines and sources, including: • Articles • Theses • Books • Abstracts This information comes from academic publishers, professional societies, online repositories, universities, and other web sites.
PubMed
PubMed allows you to search for literature for the variant.
LitVar
LitVar allows you to search for literature for the variant. This is available for any variant with an RSID.
Mastermind
Mastermind allows you to search for literature for the variant. This is available for any variant with an hgvsg annotation.