Appendix 1—table 1. Variants in Titin of differential prevalence in BEB-TSI comparison.

Variants in Titin, a gene linked to cardiovascular diseases, that were found to be significantly more common in BEB samples compared to TSI samples. The (%) values denote fraction of individuals in the sample with the allele present. The p-values and % values are averaged over $k$-mers constituting the associated sequences.

Gene	SNP id	Variant type	Allele	p-value	%BEB	%TSI
TTN	rs9808377	Missense	G	1.70$\times {10}^{-15}$	66.44%	41.91%
TTN	rs62621236	Missense	G	2.33$\times {10}^{-16}$	27.70%	5.72%
TTN	rs2291311	Missense	C	1.06$\times {10}^{-11}$	25.77%	7.77%
TTN	rs16866425	Missense	C	8.19$\times {10}^{-12}$	21.73%	2.73%
TTN	rs4894048	Missense	T	2.00$\times {10}^{-23}$	22.65%	2.26%
TTN	rs13398235	Intron/missense	A	2.04$\times {10}^{-13}$	41.00%	17.40%
TTN	rs11888217	Intron/missense	T	4.18$\times {10}^{-13}$	27.25%	4.55%
TTN	rs10164753	Missense	T	3.69$\times {10}^{-13}$	28.48%	6.19%
TTN	rs10497520	Missense	T	1.66$\times {10}^{-23}$	54.76%	18.86%
TTN	rs2627037	Missense	A	6.99$\times {10}^{-13}$	25.06%	4.72%
TTN	rs1001238	Missense	C	1.66$\times {10}^{-17}$	64.66%	38.21%
TTN	rs3731746	Missense	A	1.26$\times {10}^{-14}$	50.72%	30.21%
TTN	rs17355446	Intron/missense	A	3.31$\times {10}^{-11}$	15.44%	1.11%
TTN	rs2042996	Missense	A	1.03$\times {10}^{-17}$	71.41%	35.87%
TTN	rs747122	Missense	T	1.59$\times {10}^{-11}$	28.57%	7.24%
TTN	rs1560221${}^{\ast }$	Synonymous	G	1.11$\times {10}^{-22}$	70.71%	34.66%
TTN	rs16866406	Missense	A	2.17$\times {10}^{-12}$	35.60%	17.51%
TTN	rs4894028	Missense	T	2.58$\times {10}^{-13}$	27.54%	6.89%
TTN	-	Insertion	T	1.09$\times {10}^{-12}$	34.11%	8.59%
TTN	rs3829747	Missense	T	4.72$\times {10}^{-12}$	37.55%	20.30%
TTN	rs2291310	Missense	C	2.18$\times {10}^{-20}$	36.63%	8.04%
TTN	rs2042995	Intron/Missense	C	7.83$\times {10}^{-12}$	56.32%	31.64%
TTN	rs3829746	Missense	C	5.30$\times {10}^{-29}$	75.94%	37.60%
TTN	rs744426	Missense	A	1.36$\times {10}^{-13}$	37.15%	18.92%