| Reference sequence |
| NCBI reference sequence database |
https://www.ncbi.nlm.nih.gov/genome
|
| Ensembl genome browser |
http://www.ensembl.org/index.htm
|
| Locus reference genomic |
https://www.lrg-sequence.org/
|
| RefSeqGene |
https://www.ncbi.nlm.nih.gov/refseq
|
| MitoMap |
https://www.mitomap.org/MITOMAP/HumanMitoSeq
|
| UCSC genome browser |
https://genome.ucsc.edu/cgi-bin/hgTables
|
| Population databases |
| dbSNP |
https://www.ncbi.nlm.nih.gov/snp/
|
| Exome variant server |
http://evs.gs.washington.edu/EVS/
|
| 1000 genomes project |
http://browser.1000genomes.org
|
| dbVar |
https://www.ncbi.nlm.nih.gov/dbvar
|
| Exome Aggregation Consortium (ExAC) |
http://exac.broadinstitute.org/
|
| Genome Aggregation Database (gnomAD) |
http://gnomad.broadinstitute.org/
|
| Short genetic variation |
https://www.ncbi.nlm.nih.gov/snp
|
| Somatic and constitutional variants databases |
| National Cancer Institute’s Genome Data Commons |
https://gdc.cancer.gov
|
| Catalogue of Somatic Mutations in Cancer (COSMIC) |
http://cancer.sanger.ac.uk/cosmic
|
| IARC TP53 mutation database |
http://p53.iarc.fr/TP53GeneVariations.aspx
|
|
TP53 website |
http://p53.fr/
|
| Personalized cancer therapy |
https://pct.mdanderson.org
|
| cBioPortal |
http://www.cbioportal.org
|
| Intogen |
https://www.intogen.org/search
|
| ClinicalTrials.gov |
https://clinicaltrials.gov
|
| Pediatric Cancer Genome Project |
http://explorepcgp.org
|
| My Cancer Genome |
http://www.mycancergenome.org
|
| International Cancer Genome Consortium (ICGC) |
https://dcc.icgc.org
|
| The Cancer Genome Atlas (TCGA) |
https://cancergenome.nih.gov/
|
| VarSome The Human Genomic Variant Search Engine |
https://varsome.com
|
| DECIPHER |
https://decipher.sanger.ac.uk/
|
| ClinVar |
http://www.ncbi.nlm.nih.gov/clinvar
|
| Online Mendelian Inheritance in Man (OMIM) |
https://www.omim.org/
|
| Human Gene Mutation Database (HGMD) |
http://www.hgmd.cf.ac.uk/ac/index.php
|
| Leiden Open Variation Database (LOVD) |
http://www.lovd.nl
|
| In‐house laboratory databases |
| RESMDmol |
https://www.gesmd.es/carrerasresearch/index.php
|
| Algorithms for in silico prediction |
| PolyPhen2 |
http://genetics.bwh.harvard.edu/pph2
|
| SIFT |
http://sift.jcvi.org
|
| Mutation Assessor |
http://mutationassessor.org
|
| Mutation Taster |
http://www.mutationtaster.org
|
| PROVEAN |
http://provean.jcvi.org/index.php
|
| CoVEC |
https://sourceforge.net/projects/covec/files
|
| CADD |
http://cadd.gs.washington.edu
|
| GERP++ |
http://mendel.stanford.edu/sidowlab/downloads/gerp/index.html
|
| PhyloP and PhastCons |
http://compgen.bscb.cornell.edu/phast
|
| ConSurf |
http://consurftest.tau.ac.il
|
| FATHMM |
http://fathmm.biocompute.org.uk
|
| PANTHER |
http://www.pantherdb.org/tools/csnpScoreForm.jsp
|
| PhD‐SNP |
http://snps.biofold.org/phd-snp/phd-snp.html
|
| SNPs & GO |
http://snps-and-go.biocomp.unibo.it/snps-and-go
|
| Align GVGD |
http://agvgd.iarc.fr/agvgd_input.php
|
| MAPP |
http://mendel.stanford.edu/SidowLab/downloads/MAPP/index.html
|
| MutPred |
http://mutpred.mutdb.org
|
| nsSNPAnalyzer |
http://snpanalyzer.uthsc.edu
|
| Condel |
http://bg.upf.edu/condel/home
|
| LRT |
http://www.genetics.wustl.edu/jflab/lrt_query.html
|
| DANN |
https://omictools.com/dann-tool
|
| Splice site prediction |
| Human splicing finder |
http://www.umd.be/HSF3
|
| MaxEntScan |
http://genes.mit.edu/burgelab/maxent/Xmaxentscan_scoreseq.html
|
| NetGene2 |
http://www.cbs.dtu.dk/services/NetGene2
|
| NN plice |
http://www.fruitfly.org/seq_tools/splice.html
|
| GeneSplicer |
http://www.cbcb.umd.edu/software/GeneSplicer/gene_spl.shtml
|
| NNSplice |
http://www.fruitfly.org/seq_tools/splice.html
|
| FSPLICE |
http://www.softberry.com/berry.phtml?topic=fsplice%26group=programs%26subgroup=gfind
|
