Table 1 Databases and tools routinely used for variant annotation and classification. Additional databases and tools are used as deemed necessary

  Exome Aggregation Consortium

http://exac.broadinstitute.org/

  1000 Genomes

http://browser.1000genomes.org

  dbSNP

http://www.ncbi.nlm.nih.gov/snp

  ClinVar

http://www.ncbi.nlm.nih.gov/clinvar

  OMIM

http://www.omim.org

  Human Gene Mutation Database

http://www.hgmd.org

  Leiden Open Variation Database

http://www.lovd.nl

  NCBI Genome Source

http://www.ncbi.nlm.nih.gov/genome

  RefSeqGene

http://www.ncbi.nlm.nih.gov/refseq/rsg

  SIFT

http://sift.jcvi.org

  MutationTaster

http://www.mutationtaster.org

  PolyPhen-2

http://genetics.bwh.harvard.edu/pph2

  GeneSplicer

http://www.cbcb.umd.edu/software/GeneSplicer/gene_spl.shtml

  Human Splicing Finder

http://www.umd.be/HSF/

  NetGene2

http://www.cbs.dtu.dk/services/NetGene2

  NNSplice

http://www.fruitfly.org/seq_tools/splice.html

  GERP

http://mendel.stanford.edu/sidowlab/downloads/gerp/

  PhastCons

http://compgen.bscb.cornell.edu/phast/

  PhyloP

http://compgen.bscb.cornell.edu/phast/