Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	chr	external
SMIM11_chr21_34370507_34394151	34392326	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG04115.hp2 NA19056.hp2 HG00609.hp1 HG04115.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0028 a0001c0001t0001g0001 a0001c0001t0005g0028	3	129	0.0233	-1	c.37 others(6): Show c.3701delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3176	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392455	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01952.hp1 NA18955.hp1 HG01074.hp1 HG01952.hp1 NA18955.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0006 a0001c0001t0001 a0001c0001t0004 a0002c0002t0006	a0001c0001t0001g0001 a0001c0001t0004g0057 a0002c0002t0006g0053 a0001c0001t0001g0001 a0001c0001t0004g0057 a0002c0002t0006g0053	3	129	0.0233	-1	c.38 others(6): Show c.3830delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3305	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392480	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01255.hp2 HG01934.hp2 others(12): Show HG01074.hp2 HG01255.hp2 HG01934.hp2 HG01975.hp2 HG02004.hp2 HG02155.hp2 HG02698.hp2 HG02922.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0005g0054 a0001c0001t0007g0022	15	129	0.1163	-1	c.38 others(6): Show c.3855delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3330	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392496	AC AC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG03471.hp2 HG03540.hp2 HG01074.hp1 HG03471.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0002c0002t0006 a0001c0001t0012 a0002c0002t0006	a0001c0001t0012g0055 a0002c0002t0006g0053 a0002c0002t0006g0058 a0001c0001t0012g0055 a0002c0002t0006g0053 a0002c0002t0006g0058	3	129	0.0233	-1	c.38 others(6): Show c.3871delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3346	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392510	TA TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02735.hp1 NA18612.hp1 others(3): Show HG01928.hp2 HG02735.hp1 NA18612.hp1 NA19011.hp1 NA19011.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0037 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0002g0020 a0001c0001t0005g0028 a0001c0001t0011g0014	6	129	0.0465	-1	c.38 others(6): Show c.3885delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3360	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392516	TA TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02080.hp1 HG03490.hp1 others(2): Show HG00609.hp2 HG02080.hp1 HG03490.hp1 HG03669.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0035 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0010g0034	5	129	0.0388	-1	c.38 others(6): Show c.3891delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3366	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392589	AT AT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02071.hp1 HG01928.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	129	0.0155	-1	c.39 others(6): Show c.3964delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3439	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392628	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA19056.hp1 NA18955.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	2	129	0.0155	-1	c.40 others(6): Show c.4003delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3478	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392653	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02293.hp1 HG02559.hp1 others(3): Show HG02155.hp2 HG02293.hp1 HG02559.hp1 HG02735.hp1 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0007g0022	6	129	0.0465	-1	c.40 others(6): Show c.4028delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3503	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392660	AG AG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG01934.hp2 HG01081.hp1 HG01255.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004	3	129	0.0233	-1	c.40 others(6): Show c.4035delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3510	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392685	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp2 HG03225.hp1 others(2): Show HG02155.hp1 HG02155.hp2 HG03225.hp1 HG04115.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0045 a0001c0001t0007g0022	5	129	0.0388	-1	c.40 others(6): Show c.4060delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3535	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392708	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02559.hp2 NA18522.hp1 others(1): Show HG01109.hp2 HG02559.hp2 NA18522.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0025	4	129	0.0310	-1	c.40 others(6): Show c.4083delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3558	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392763	TC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02559.hp2 HG03490.hp1 HG01952.hp1 HG02559.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0057 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0057	3	129	0.0233	-1	c.41 others(6): Show c.4138delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3613	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392810	TC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA19011.hp1 NA19056.hp2 NA18612.hp1 NA19011.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0037 a0001c0001t0002g0020 a0001c0001t0005g0028 a0001c0001t0001g0037 a0001c0001t0002g0020 a0001c0001t0005g0028	3	129	0.0233	-1	c.41 others(6): Show c.4185delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3660	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392859	TC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 NA18955.hp1 NA19011.hp2 HG02698.hp2 NA18955.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0011g0014 a0001c0001t0001g0001 a0001c0001t0011g0014	3	129	0.0233	-1	c.42 others(6): Show c.4234delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3709	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34392949	GC GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 NA18747.hp2 HG03225.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0010	2	129	0.0155	-1	c.43 others(6): Show c.4324delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3799	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393003	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 NA19011.hp2 HG04115.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0011g0014 a0001c0001t0001g0001 a0001c0001t0011g0014	2	129	0.0155	-1	c.43 others(6): Show c.4378delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3853	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393093	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02559.hp2 HG02523.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	129	0.0155	-1	c.44 others(6): Show c.4468delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3943	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393098	GT GT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 NA19011.hp2 HG02809.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0002 a0001c0001t0011g0014 a0001c0001t0001g0002 a0001c0001t0011g0014	2	129	0.0155	-1	c.44 others(6): Show c.4473delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3948	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393196	GC GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG04115.hp2 NA18955.hp1 HG02027.hp2 HG04115.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0009g0007 a0001c0001t0001g0001 a0001c0001t0009g0007	3	129	0.0233	-1	c.45 others(6): Show c.4571delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4046	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393243	AT AT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02698.hp2 HG02559.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	129	0.0155	-1	c.46 others(6): Show c.4618delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4093	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393288	TA TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 NA20752.hp2 HG00735.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0009 a0001c0001t0001g0011	2	129	0.0155	-1	c.46 others(6): Show c.4663delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4138	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393305	TC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01993.hp2 HG02155.hp2 others(1): Show HG01081.hp2 HG01993.hp2 HG02155.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0050 a0001c0001t0007g0022	4	129	0.0310	-1	c.46 others(6): Show c.4680delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4155	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393329	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01517.hp2 HG04115.hp2 HG00735.hp2 HG01517.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	3	129	0.0233	-1	c.47 others(6): Show c.4704delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4179	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393353	GA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG02559.hp2 NA19056.hp1 HG01975.hp2 HG02559.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0054 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0054	3	129	0.0233	-1	c.47 others(6): Show c.4728delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4203	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393490	AT AT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 NA18983.hp1 HG04228.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0001 a0001c0001t0001g0036	2	129	0.0155	-1	c.48 others(6): Show c.4865delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4340	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393503	GT GT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG03453.hp1 HG03490.hp2 HG02735.hp1 HG03453.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0002 a0001c0001t0001g0030	3	129	0.0233	-1	c.48 others(6): Show c.4878delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4353	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393542	GT GT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18906.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0025 a0001c0001t0001g0052	2	129	0.0155	-1	c.49 others(6): Show c.4917delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4392	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393588	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA18747.hp1 HG02071.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	2	129	0.0155	-1	c.49 others(6): Show c.4963delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4438	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393601	TC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01517.hp1 HG02735.hp1 HG01081.hp2 HG01517.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	3	129	0.0233	-1	c.49 others(6): Show c.4976delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4451	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393658	GC GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02027.hp2 HG01081.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0009g0007 a0001c0001t0001g0001 a0001c0001t0009g0007	2	129	0.0155	-1	c.50 others(6): Show c.5033delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4508	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393661	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA18522.hp1 NA20752.hp2 HG02922.hp2 NA18522.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0025	3	129	0.0233	-1	c.50 others(6): Show c.5036delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4511	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393665	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 NA18906.hp1 NA18955.hp1 HG03139.hp2 NA18906.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0008	a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0003t0008g0042 a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0003t0008g0042	3	129	0.0233	-1	c.50 others(6): Show c.5040delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4515	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393676	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 NA19056.hp2 HG02559.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0028 a0001c0001t0001g0001 a0001c0001t0005g0028	2	129	0.0155	-1	c.50 others(6): Show c.5051delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4526	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393685	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG02155.hp2 HG01975.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0004 a0001c0001t0007g0022 a0001c0001t0001g0004 a0001c0001t0007g0022	2	129	0.0155	-1	c.50 others(6): Show c.5060delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4535	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393735	GT GT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG04204.hp2 HG02027.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0044 a0001c0001t0009g0007 a0001c0001t0001g0044 a0001c0001t0009g0007	2	129	0.0155	-1	c.51 others(6): Show c.5110delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4585	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393768	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02809.hp2 HG02738.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0002 a0001c0001t0001g0040	2	129	0.0155	-1	c.51 others(6): Show c.5143delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4618	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393842	AC AC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG03453.hp1 HG02155.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0007g0022 a0001c0001t0001g0002 a0001c0001t0007g0022	2	129	0.0155	-1	c.52 others(6): Show c.5217delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4692	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393874	AG AG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG02698.hp2 HG02922.hp2 others(1): Show HG01175.hp2 HG02698.hp2 HG02922.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015	4	129	0.0310	-1	c.52 others(6): Show c.5249delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4724	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393886	CT CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02523.hp1 HG01074.hp1 HG02523.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0006	a0001c0001t0001g0001 a0002c0002t0006g0053 a0001c0001t0001g0001 a0002c0002t0006g0053	2	129	0.0155	-1	c.52 others(6): Show c.5261delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4736	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393990	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG03139.hp1 HG00544.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	129	0.0155	-1	c.53 others(6): Show c.5365delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4840	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34394036	TC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG03453.hp2 NA19011.hp2 HG02071.hp1 HG03453.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0011g0014 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0011g0014	3	129	0.0233	-1	c.54 others(6): Show c.5411delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4886	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34394065	TG TG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18955.hp1 HG02155.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0007g0022 a0001c0001t0001g0001 a0001c0001t0007g0022	2	129	0.0155	-1	c.54 others(6): Show c.5440delG	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4915	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34394081	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01993.hp2 NA18612.hp2 others(1): Show HG01175.hp1 HG01993.hp2 NA18612.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0021 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0050	4	129	0.0310	-1	c.54 others(6): Show c.5456delA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4931	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34394097	AT AT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 NA18747.hp2 HG01074.hp1 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0006	a0001c0001t0001g0001 a0002c0002t0006g0053 a0001c0001t0001g0001 a0002c0002t0006g0053	2	129	0.0155	-1	c.54 others(6): Show c.5472delT	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4947	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34394100	TC TC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02735.hp1 NA18955.hp1 HG02273.hp1 HG02735.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0048	3	129	0.0233	-1	c.54 others(6): Show c.5475delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4950	chr21	TogoVar
SMIM11_chr21_34370507_34394151	34394122	GC GC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG04115.hp1 HG02300.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0012 a0001c0001t0001g0001 a0001c0001t0003g0012	2	129	0.0155	-1	c.54 others(6): Show c.5497delC	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		4972	chr21	TogoVar
SMIM12_chr1_34845362_34864749	34849983	CA CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00639.hp2 others(29): Show HG00438.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01109.hp2 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG02027.hp2 HG02071.hp1 HG02135.hp2 HG02148.hp2 HG02293.hp2 HG02735.hp1 HG04115.hp2 NA18943.hp1 NA18944.hp1 NA18952.hp1 NA18959.hp1 NA18961.hp2 NA18978.hp2 NA18979.hp2 NA19000.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19068.hp1 NA19068.hp2 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0038 a0001c0001t0055 a0001c0001t0066 a0001c0001t0095 a0001c0001t0106 a0001c0001t0116	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0003 others(12): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0006g0005 a0001c0001t0016g0013 a0001c0001t0029g0024 a0001c0001t0030g0025 a0001c0001t0031g0080 a0001c0001t0035g0038 a0001c0001t0038g0034 a0001c0001t0055g0070 a0001c0001t0066g0090 a0001c0001t0095g0117 a0001c0001t0106g0107 a0001c0001t0116g0128	32	382	0.0838	-1	c.57 others(6): Show c.5715delT	SMIM12	ENSG00000163866.9	transcript	ENST00000521580.3	protein_coding		378	chr1	TogoVar
SMIM12_chr1_34845362_34864749	34852668	AT AT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG02970.hp1 HG03471.hp2 others(4): Show HG01243.hp1 HG02970.hp1 HG03471.hp2 HG03579.hp1 NA18988.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0076 a0001c0001t0077 others(3): Show a0001c0001t0050 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0111 a0001c0001t0152	a0001c0001t0050g0045 a0001c0001t0076g0152 a0001c0001t0077g0172 others(3): Show a0001c0001t0050g0045 a0001c0001t0076g0152 a0001c0001t0077g0172 a0001c0001t0078g0153 a0001c0001t0111g0111 a0001c0001t0152g0159	7	382	0.0183	-1	c.30 others(6): Show c.3030delA	SMIM12	ENSG00000163866.9	transcript	ENST00000521580.3	protein_coding	2/2	3030	chr1	TogoVar
SMIM12_chr1_34845362_34864749	34854569	CA CA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG02970.hp1 HG03471.hp2 others(3): Show HG01243.hp1 HG02970.hp1 HG03471.hp2 HG03579.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0076 a0001c0001t0077 others(2): Show a0001c0001t0050 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0152	a0001c0001t0050g0045 a0001c0001t0076g0152 a0001c0001t0077g0172 others(2): Show a0001c0001t0050g0045 a0001c0001t0076g0152 a0001c0001t0077g0172 a0001c0001t0078g0153 a0001c0001t0152g0159	6	382	0.0157	-1	c.11 others(6): Show c.1129delT	SMIM12	ENSG00000163866.9	transcript	ENST00000521580.3	protein_coding	2/2	1129	chr1	TogoVar

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