** UPDATED 11 Apr 2017 - previous file was missing some chr1 variants **
This compressed file is from sequencing of 1687 self-stated parentally-related individuals living in East London.
All volunteers are of (British-) Bangladeshi and (British-) Pakistani ethnic origin.
Loss of function variant sites (exome capture, Agilent reagent) as called by the consensus of samtools and GATK, and genome annotation by LOFTEE.
Calling of variants is intentionally conservative - higher specificity at the cost of some sensitivity.
Please note human GENOME BUILD 38, GRCh38
** UPDATED 11 Apr 2017 - previous file was missing some chr1 variants **
File download: all_LOFs_ELGH.03March2017.gatk_PASS_samtools_v3_intersection.discordant_genotypes_missing.GRCh38.VEP_V85.having_fixed_variants_in_multiple_genes.chr1_fixed.txt.gz
