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: 14-21167919-G-A Allele Count: 1   Sample Count: 2612   MAF: 1.914E-4   CADD Score: 10.42

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
AL163636.6 ENST00000553909 - - - noncoding exon - -
RNASE4 ENST00000555835 cGt/cAt R130H CCDS9555.1 missense benign(0.002) tolerated(1)
RNASE4 ENST00000304704 cGt/cAt R130H CCDS9555.1 missense benign(0.002) tolerated(1)
RNASE4 ENST00000397995 cGt/cAt R130H CCDS9555.1 missense benign(0.002) tolerated(1)
RNASE4 ENST00000555597 cGt/cAt R130H CCDS9555.1 missense benign(0.002) tolerated(1)
RP11-903H12.3 ENST00000554286 - - - intron - -
ANG ENST00000554073 - - - downstream - -