Table 1.

Clinically relevant mutations observed in the UK10K dataset.

Genome Location (hg19)	SNP ID	Ref	Alt	No. of carriers identified	QUAL score	MAF (gnomAD)	Functional effect	DNA change	Amino acid change
chr1:215956104	rs111033264	A	G	1	24.8	2.889E-07	Missense	c.10561T > C	p.Trp3521Arg
chr1:215963510	rs148660051	C	T	4	247	0.000003829	Missense	c.10073G > A	p.Cys3358Tyr
chr1:216019240	rs397518041	C	T	1	46.4	0.00001627	Stop-Gain	c.8981G> A	p.Trp2994*
chr1:216420436	rs80338903	C	–	7	967	0.0006835	Frameshift	c.2299delG	p.Glu767Serfs
chr1:216497582	rs121912600	C	A	1	171	0.00004079	Missense	c.1256G > T	p.Cys419Phe

Genome location is given in the format chr:variant position (hg19). QUAL score refers to PHRED quality score for sequence data at given base. Ref is the allele observed in the Human Reference sequence (hg19). Alt is the alternative allele observed in the UK10K. All variants were observed in a heterozygous form. Minor Allele Frequency (MAF) is given for all samples in the gnomAD population database (https://gnomad.broadinstitute.org/). DNA change refers to the position in the coding sequence for the gene. Amino acid change refers to the position altered in the protein.