Download variants

Case id,

Chromosome,

Position,

REF,

ALT,

END,

Vartype,

Gene,

Transcript,

Effect,

Quality,

Depth,

Alternate Read,

Proband Zygosity (called Zygosity before 34.0),

GnomAD AF,

GnomAD AC,

GnomAD SV AF,

GnomAD SV AC,

Max AF,

Pathogenicity,

Coding Change,

Protein Change,

Hom,

Hemi,

Tag,

Prediction,

SpliceAI DS AG,

SpliceAI DS AL,

SpliceAI DS DG,

SpliceAI DS DL,

pLI,

Missense z-score,

pRec,

Known Variants,

Other Family Members,

Mother Zygosity (34.0+),

Father Zygosity (34.0+),

Allele Bias,

Reference,

Evidence Text,

Diseases (34.0+),

Disease Inheritance Mode (34.0+),

SIFT Pred (34.0+),

LRT Pred (34.0+),

MutationTaster Pred (34.0+),

Polyphen2 HVAR Pred (34.0+),

Polyphen2 HDIV Pred (34.0+),

DANN Score (34.0+),

REVEL Score (34.0+),

PrimateAI3D Score (34.0+),

PrimateAI3D Prediction (34.0+),

Variant inheritance (34.0+)