Table 4.

Selected functional annotations of highest 22 single variants along 12q23-24.11 linked haplotype for family 22

CHR	ID	LOD	HLOD	Gene	FUNC	EXON	FRQ	SIFT	POLYPH
12	rs10860634:g.101188920G>A	2.2	1.9	ANO4	Intronic	.	0.096	.	.
12	rs1842888:g.101491375G>A	2.2	3.0	ANO4	Intronic	.	0.37	.	.
12	rs76554907:g.101491517G>A	2.2	1.7	ANO4	Intronic	.	0.13	.	.
12	rs1055734:g.101520689A>G	2.2	1.7	ANO4	Exonic	Syn	0.13	.	.
12	rs3741954:g.101520875G>A	2.2	1.7	ANO4	Intronic	.	0.13	.	.
12	rs1849710:g.101522078C>G	2.2	1.7	ANO4	UTR3	.	0.13	.	.
12	rs765865412:g.102055019G>A	2.2	2.2	MYBPC1	Exonic	Nonsyn	.	T	P
12	rs199921889:g.102158766A>C	2.2	2.2	GNPTAB	Exonic	Syn	.	.	.
12	rs57454316:g.102301026A>G	2.2	2.2	DRAM1	Intronic	.	0.011	.	.
12	rs7312944:g.102301254C>T	2.2	2.2	DRAM1	Intronic	.	0.011	.	.
12	rs554919613:g.103233119C>T	2.2	2.2	PAH	Intronic	.	0.001	.	.
12	rs79387839:g.103696182T>G	2.2	2.4	C12orf42	Exonic	Nonsyn	0.17	T	B
12	rs2056128:g.104140517A>G	2.2	1.6	STAB2	Intronic	.	0.56	.	.
12	rs1106752:g.108600237A>G	2.2	1.5	WSCD2	Intronic	.	0.53	.	.
12	rs112262364:g.108682734C>A	2.2	1.8	CMKLR1	UTR3	.	0.076	.	.
12	rs1138433:g.108683403G>A	2.2	1.8	CMKLR1	UTR3	.	0.075	.	.
12	rs78943618:g.108684522G>A	2.2	1.8	CMKLR1	UTR3	.	0.075	.	.
12	rs143307480:g.108684568C>T	2.2	1.7	CMKLR1	UTR3	.	0.0089	.	.
12	rs2280169:g.108684630T>C	2.2	2.1	CMKLR1	UTR3	.	0.5	.	.
12	rs139132042:g.108932894T>G	2.2	2.1	SART3	Intronic	.	0.004	.	.
12	rs7303227:g.108984751C>A	2.2	2.1	TMEM119	UTR3	.	0.017	.	.
12	rs10861953:g.108986112G>C	2.2	1.6	TMEM119	Exonic	Syn	0.18	.	.

Selected functional annotations for the SNVs with the highest 22 LOD scores in Family 22. All variants are on chromosome 12 and mapped to hg19. Headers represent CHR = chromosome, ID = rsID, position, and allele change for SNV, LOD = LOD score for variant in Family 22, HLOD = Cumulative HLOD score across all 7 families, GENE = gene location of variant, FUNC = functional region of gene where variant is located, EXON = nonsynonymous (nonsyn), synonymous (syn) FRQ = 1000Genomes frequency of variant in Europeans, SIFT = protein damaging prediction based on SIFT (where T = tolerated, D = damaging), POLYPH = protein damage prediction based on PolyPhen2 (P = possibly damaging, B = benign)