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Exome Variant Server specifications


Unique identifier OMICS_00277
Name Exome Variant Server
Restrictions to use None
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline Colleen Davis

Exome Variant Server citations


Genomic features of renal cell carcinoma with venous tumor thrombus

Sci Rep
PMCID: 5945671
PMID: 29748622
DOI: 10.1038/s41598-018-25544-z

[…] were nonsynonymous, occurred within splice sites, or lead to gain or loss of stop codons. All SNVs were annotated using Annovar (version as of February 2016), dbSNP (build 147), 1000 Genomes and EVS (Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA [version ESP6500SI-V2]) data. Indels were identified with Platypus callVariants (version 0.8.1, parameter settings genIndels  […]


Delineation of the genetic and clinical spectrum of Phelan McDermid syndrome caused by SHANK3 point mutations

Mol Autism
PMCID: 5921983
PMID: 29719671
DOI: 10.1186/s13229-018-0205-9

[…] ome Aggregation Database (gnomAD), suggesting it is likely benign, despite being predicted as damaging by several in silico tools (Additional file : Table S3). All other mutations are absent from the Exome Variant Server (EVS) and gnomAD. The missense mutation in S14 (p.Asp1672Tyr) affects a highly conserved residue and is predicted to be damaging by all algorithms used, including Polyphen-2, SIFT […]


Combined linkage and association analysis of classical Hodgkin lymphoma

PMCID: 5945548
PMID: 29755658
DOI: 10.18632/oncotarget.24872
call_split See protocol

[…] quality (GQ) of ≥ 30. Only non-silent variants were considered for analysis (i.e. missense, nonsense, frameshift, in-frame insertion/deletions, splice donor/acceptors, and initiator codon variants). Exome Variant Server (NHLBI GO Exome Sequencing Project (ESP) [], 1000 genomes project [] and dbSNP [] were used as population frequency references. Functional consequences of missense changes were pr […]


Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early onset/familial prostate cancer

PLoS Genet
PMCID: 5919682
PMID: 29659569
DOI: 10.1371/journal.pgen.1007355
call_split See protocol

[…] iants and intronic variants at more than 12-bp away from exon-intron boundaries were excluded. For MAF filtering, data was obtained from the 1000 Genomes Project [Based on Project Phase III Data []], Exome Variant Server [from NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/), accessed in January, 2017] and Exome Aggregation Consortium [ExAC (http://exac.broadinstitute.org), acces […]


Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease

Front Neurosci
PMCID: 5902712
PMID: 29692703
DOI: 10.3389/fnins.2018.00230

[…] Variants were annotated using SeattleSeq Annotation (Ng et al., ), the Exome Variant Server (EVS), (http://evs.gs.washington.edu/EVS/ - Release ESP6500SI-V2), the ExAC data (release 0.3.1) (Lek et al., ) and the Ensembl Genome browser (Aken et al., ). Predictions of vari […]


Mutations in Diphosphoinositol Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse

PLoS Genet
PMCID: 5891075
PMID: 29590114
DOI: 10.1371/journal.pgen.1007297

[…] The URLs for data presented herein are as follows:NHLBI Exome Sequencing Project (Exome Variant Server), http://evs.gs.washington.edu/EVS/Primer3, http://frodo.wi.mit.edu/primer3PrimeTime qPCR assay design tool, http://www.idtdna.com/Scitools/Applications/RealTimePCR/gEAR, http://u […]


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