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: 12-64860760-G-A Allele Count: 1   Sample Count: 2608   MAF: 1.917E-4   CADD Score: 11.33

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 ggG/ggA 146G CCDS8968.1 synonymous - -
TBK1 ENST00000538890 - - - downstream - -
TBK1 ENST00000539810 - - - downstream - -
TBK1 ENST00000540417 - - - downstream - -