Web Resources
The URLs for data presented herein are as follows:1000 Genomes, http://browser.1000genomes.org
AgileExomeFilter, http://dna.leeds.ac.uk/agile/AgileExomeFilter/
AgileMultiIdeogram, http://dna.leeds.ac.uk/agile/AgileMultiIdeogram/
ANNOVAR, http://www.openbioinformatics.org/annovar/
dbSNP, http://www.ncbi.nlm.nih.gov/projects/SNP/
GATK, http://www.broadinstitute.org/gatk/
GenBank, http://www.ncbi.nlm.nih.gov/genbank/
NHLBI Exome Sequencing Project (ESP) Exome Variant Server, http://evs.gs.washington.edu/EVS/
Online Mendelian Inheritance in Man (OMIM), http://www.omim.org/
SMART, http://www.smart.embl-heidelberg.de/
UK10K Consortium, http://www.uk10k.org/