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: 12-64849714-A-C Allele Count: 1   Sample Count: 2619   MAF: 1.909E-4   CADD Score: 25.0

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
TBK1 ENST00000331710 Aat/Cat N22H CCDS8968.1 missense probably_damaging(0.992) deleterious(0.01)
TBK1 ENST00000538890 Aat/Cat N22H - missense probably_damaging(0.992) tolerated(0.13)
TBK1 ENST00000540417 Aat/Cat N22H - missense probably_damaging(0.992) tolerated(0.07)
TBK1 ENST00000539810 - - - 5' UTR - -
XPOT ENST00000332707 - - CCDS31852.1 downstream - -