Data Browser v2

Examples - Gene: TBK1, Region: 21:33032075-33040899, Variant: 14-21162090-G-A


Note This screen lists all Ensembl-based annotations for the selected variant. This includes annotations with overlapping genes.

Variant: 12-64878160-G-A Allele Count: 1   Sample Count: 2585   MAF: 1.934E-4   CADD Score: 22.6

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 cGa/cAa R357Q CCDS8968.1 missense benign(0.019) tolerated(0.15)
TBK1 ENST00000545025 - - - noncoding exon - -
TBK1 ENST00000536906 - - - upstream - -