User details
Email address (optional):
Dataset name (optional):

Query Options
Assembly
Query Type
Batch Query
[Input format] [Load Example]
Paste in your query (upto 100K SNPs/InDels):

-- OR --
Please specify a file (upto 100K SNPs/InDels)

Annotation Categories
Gene/Protein Consequences (maximum 3 at a time)
RefSeq Ensembl AceView VEGA UCSC CCDS H-Inv 7.0
Effect of Non-synonymous Coding SNPs on Protein Function†§ SIFT
PolyPhen
HapMap Population Data
CEU YRI CHB JPT ASW CHD GIH LWK MEX MKK TSI
Regulatory Elements Conserved Transcription Factor Binding Sites (TFBS)
First-Exon and Promoter Prediction (FirstEF)
miRBASE 20.0
Vista HMR-Conserved Non-coding Human Enhancers
CpG Islands
TargetScan miRNA Regulatory Sites
microRNAs (miRNA Registry) / snoRNAs and scaRNAs (snoRNA-LBME-DB)
Conservation Vertebrate Alignment and Conservation (PHAST)
Genomic Evolutionary Rate Profiling (GERP++)
Phenotype & Disease Association Genetic Association of Complex Diseases and Disorders (GAD)
Catalogue of Somatic Mutations in Cancer (COSMIC)
NHGRI Catalogue of Published Genome-Wide Association Studies
Structural Variations
Copy Number Variations (CNV)
Inversion
Complex
Available only for genome assembly hg19.
Available only for genome assembly hg18.
§ Based on Ensembl 63 mapping.

Output options
Zipped content: Text VCF