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: 14-21167829-A-C Allele Count: 1   Sample Count: 2609   MAF: 1.916E-4   CADD Score: 27.4

Gene Transcript Codon Change AA Change CCDS Consequence PolyPhen-2 HumVar SIFT
AL163636.6 ENST00000553909 - - - noncoding exon - -
RNASE4 ENST00000555835 cAt/cCt H100P CCDS9555.1 missense probably_damaging(0.997) deleterious(0)
RNASE4 ENST00000304704 cAt/cCt H100P CCDS9555.1 missense probably_damaging(0.997) deleterious(0)
RNASE4 ENST00000397995 cAt/cCt H100P CCDS9555.1 missense probably_damaging(0.997) deleterious(0)
RNASE4 ENST00000555597 cAt/cCt H100P CCDS9555.1 missense probably_damaging(0.997) deleterious(0)
RP11-903H12.3 ENST00000554286 - - - intron - -
ANG ENST00000554073 - - - downstream - -