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 P A R A M E T E R S

SNP info known

novel

1000g 1000g2014sep_all 1000g2014sep_eur 1000g2014sep_eas 1000g2014sep_amr 1000g2014sep_afr 1000g2014sep_sas

ExAC ExAC03

ESP6500 esp6500_ea esp6500_aa

PopFreqMax PopFreqMax

Func.refgene exonic

splicing

ncRNA
UTR3/UTR5

Func.refgene intronic
upstream/ downstream
intergenic

Func.ensGene exonic

splicing

ncRNA
UTR3/UTR5

Func.ensGene intronic
upstream/ downstream
intergenic

ExonicFunc.refgene stoploss

stopgain

nonsynonymous
synonymous

ExonicFunc.ensGene stoploss

stopgain

nonsynonymous
synonymous

Polyphen2_HDIV Damaging

Possibly damaging

Benign

Polyphen2_HVAR Damaging

Possibly damaging

Benign

SIFT Deleterious

Tolerated

LRT Deleterious

Neutral

LR Deleterious

Neutral

MutationTaster A/D : disease_causing

N/P : polymorphism

MutationAssessor H: high M: medium

L: low N: neutral

RadialSVM Deleterious

Neutral

FATHMM Deleterious

Tolerated

gwasCatalog gwasCatalog

EncodeRegTfbs TfbsClustered

EncodeRegDnase DnaseClustered

tfbsConsSites tfbsConsSites

phastConsElements phastConsElements46way

GERP++ GERP++

PhyloP placental phyloP46way_placental

PhyloP vertebrate phyloP100way_vertebrate

SiPhy SiPhy

evofold evofold

clinvar clinvar

Sample Identifier: e-mail:

NB: weights are set between 0 and 1. Hover mouse on checkbox headers for more information.
Refer TUTORIAL for file formats [ANNOVAR(.txt extension)/VCF]

VARIANT RANKER