For a given gene, this view displays Pfam domains of the protein it codes, and variants in the study population. Protein data were imported from the Ensembl 75 database (GRCh37 assembly).
Global filters affect this view. Any sample-based filters set here and/or variant filters set here determine what transcripts and variants appear in this view. If no global filters are set, all variants and transcripts for a given gene are shown.
Variants are indicated by symbols placed above their position on the protein sequence. Size of the symbol corresponds to the number of samples containing that variant.
Variants with an ExAC frequency > 0 are indicated with a *.
A yellow triangle just underneath a variant indicates that it was the variant clicked on in another view that brought you here.
If more than one row appears, each row corresponds to a transcript of the gene.
If none of the rows shown have variant symbols, the variants in the given gene likely do not have a position in the protein sequence (e.g., 3' UTR variants).
Mousing over a variant symbol displays information about it: the type of variant, the amino acid change and protein position, and the number of samples containing that variant.
Clicking on a variant symbol will open a table of sample data for that gene.