Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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	status	chr	external
CT47A3_chrX_120967746_120981068	120976023	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	0	c.-21 others(4): Show c.-214C>A	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	214		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120976044	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	0	c.-23 others(4): Show c.-235G>A	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	235		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120976048	T T	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	0	c.-23 others(4): Show c.-239A>C	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	239		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120976049	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	0	c.-24 others(4): Show c.-240A>G	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	240		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120976065	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00741.hp2 others(84): Show HG00280.hp1 HG00544.hp1 HG00741.hp2 HG01071.hp2 HG01106.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18962.hp1 NA18969.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA19002.hp2 NA19030.hp1 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0011	a0001c0001 a0001c0002 a0003c0005 others(2): Show a0001c0001 a0001c0002 a0003c0005 a0007c0014 a0011c0007	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0003c0005t0002 a0007c0014t0002 a0011c0007t0002	a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0039 others(9): Show a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0003g0015 a0001c0002t0002g0007 a0003c0005t0002g0044 a0007c0014t0002g0038 a0011c0007t0002g0037	87	201	0.4328	0	c.-25 others(4): Show c.-256A>G	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	256		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120970993	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0004 a0013c0018t0004	a0013c0018t0004g0011 a0013c0018t0004g0011	1	164	0.0061	0	c.-44 others(3): Show c.-44C>A	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	44		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120971052	G G	GC GC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0004 a0013c0018t0004	a0013c0018t0004g0011 a0013c0018t0004g0011	1	164	0.0061	1	c.-10 others(5): Show c.-104dupG	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	104		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120971064	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG01175.hp2 others(5): Show HG00741.hp2 HG01106.hp1 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG01934.hp1 HG02109.hp2 NA19090.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0003 a0009c0013t0003 a0001c0001t0003 a0009c0013t0003	a0001c0001t0003g0006 a0009c0013t0003g0027 a0001c0001t0003g0006 a0009c0013t0003g0027	8	164	0.0488	0	c.-11 others(4): Show c.-115T>C	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	115		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120971084	TG TG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0004 a0013c0018t0004	a0013c0018t0004g0011 a0013c0018t0004g0011	1	164	0.0061	-1	c.-13 others(5): Show c.-136delC	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	136		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120971205	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG00741.hp2 others(70): Show HG00544.hp1 HG00673.hp1 HG00741.hp2 HG01071.hp1 HG01106.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01993.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18962.hp1 NA18966.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18992.hp1 NA19000.hp1 NA19002.hp2 NA19030.hp1 NA19085.hp1 NA19090.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0015 a0008c0012 a0009c0013	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0004t0002 a0002c0003t0002 a0003c0015t0002 a0008c0012t0002 a0009c0013t0003	a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0030 others(9): Show a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0003g0006 a0001c0002t0002g0004 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0004t0002g0028 a0002c0003t0002g0010 a0003c0015t0002g0034 a0008c0012t0002g0033 a0009c0013t0003g0027	73	164	0.4451	0	c.-25 others(4): Show c.-256A>G	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	256		chrX	TogoVar
CT47A5_chrX_120958026_120971348	120966155	ACTGAGGT ACTGAGGT	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	130	0.0077	-7	c.-73 others(14): Show c.-73_-67delACCTCAG	CT47A5	ENSG00000237957.6	transcript	ENST00000439466.3	protein_coding	1/3	67		chrX	TogoVar
CT47A5_chrX_120958026_120971348	120966166	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0039 a0001c0002t0007g0039	1	130	0.0077	0	c.-77 others(3): Show c.-77A>G	CT47A5	ENSG00000237957.6	transcript	ENST00000439466.3	protein_coding	1/3	77		chrX	TogoVar
CT47A5_chrX_120958026_120971348	120966179	AGGCGAGG others(3): Show AGGCGAGGAGC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0031 a0001c0004t0004g0031	1	130	0.0077	-10	c.-10 others(18): Show c.-100_-91delGCTCCTCGCC	CT47A5	ENSG00000237957.6	transcript	ENST00000439466.3	protein_coding	1/3	91		chrX	TogoVar
CT47A5_chrX_120958026_120971348	120966204	A A	AT AT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	130	0.0077	1	c.-11 others(5): Show c.-116dupA	CT47A5	ENSG00000237957.6	transcript	ENST00000439466.3	protein_coding	1/3	116		chrX	TogoVar
CT47A5_chrX_120958026_120971348	120966204	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01071.hp2 HG01123.hp1 HG01175.hp2 others(4): Show HG01071.hp2 HG01123.hp1 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0003 a0001c0001t0003 a0001c0001t0006 a0001c0002t0003	a0001c0001t0003g0007 a0001c0001t0003g0034 a0001c0001t0006g0033 others(1): Show a0001c0001t0003g0007 a0001c0001t0003g0034 a0001c0001t0006g0033 a0001c0002t0003g0035	7	130	0.0539	0	c.-11 others(4): Show c.-115T>C	CT47A5	ENSG00000237957.6	transcript	ENST00000439466.3	protein_coding	1/3	115		chrX	TogoVar
CT47A5_chrX_120958026_120971348	120966226	A A	AG AG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	130	0.0077	1	c.-13 others(5): Show c.-138dupC	CT47A5	ENSG00000237957.6	transcript	ENST00000439466.3	protein_coding	1/3	138		chrX	TogoVar
CT47A5_chrX_120958026_120971348	120966261	A A	AT AT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	130	0.0077	1	c.-17 others(5): Show c.-173dupA	CT47A5	ENSG00000237957.6	transcript	ENST00000439466.3	protein_coding	1/3	173		chrX	TogoVar
CT47A5_chrX_120958026_120971348	120966303	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	130	0.0077	0	c.-21 others(4): Show c.-214C>A	CT47A5	ENSG00000237957.6	transcript	ENST00000439466.3	protein_coding	1/3	214		chrX	TogoVar
CT47A5_chrX_120958026_120971348	120966311	G G	GA GA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	130	0.0077	1	c.-22 others(5): Show c.-223dupT	CT47A5	ENSG00000237957.6	transcript	ENST00000439466.3	protein_coding	1/3	223		chrX	TogoVar
CT47A5_chrX_120958026_120971348	120966345	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01071.hp2 HG01106.hp1 others(36): Show HG00741.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01981.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02257.hp2 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp2 HG02970.hp2 HG03209.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 NA18747.hp1 NA18982.hp1 NA18992.hp1 NA19074.hp2 NA19085.hp1 NA19090.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0002c0003t0002	a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0003g0007 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0003g0007 a0001c0001t0003g0034 a0001c0001t0006g0033 a0001c0002t0002g0006 a0001c0002t0002g0038 a0001c0002t0003g0035 a0001c0002t0007g0039 a0002c0003t0002g0037	39	130	0.3000	0	c.-25 others(4): Show c.-256A>G	CT47A5	ENSG00000237957.6	transcript	ENST00000439466.3	protein_coding	1/3	256		chrX	TogoVar
CT47A5_chrX_120958026_120971348	120966345	T T	TG TG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	130	0.0077	1	c.-25 others(5): Show c.-257dupC	CT47A5	ENSG00000237957.6	transcript	ENST00000439466.3	protein_coding	1/3	257		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961249	TG TG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	110	0.0091	-1	c.-22 others(4): Show c.-22delC	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	22		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961261	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0029 a0003c0007t0007g0029	1	110	0.0091	0	c.-33 others(3): Show c.-33G>T	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	33		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961343	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01358.hp1 HG01517.hp1 HG01891.hp1 others(2): Show HG01358.hp1 HG01517.hp1 HG01891.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	5	110	0.0455	0	c.-11 others(4): Show c.-115T>C	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	115		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961353	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	110	0.0091	0	c.-12 others(4): Show c.-125G>A	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	125		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961368	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	110	0.0091	0	c.-14 others(4): Show c.-140C>T	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	140		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961400	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	110	0.0091	0	c.-17 others(4): Show c.-172T>C	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	172		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961427	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	110	0.0091	0	c.-19 others(4): Show c.-199T>C	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	199		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961442	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	110	0.0091	0	c.-21 others(4): Show c.-214C>A	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	214		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961463	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	110	0.0091	0	c.-23 others(4): Show c.-235G>A	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	235		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961467	T T	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	110	0.0091	0	c.-23 others(4): Show c.-239A>C	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	239		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961468	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	110	0.0091	0	c.-24 others(4): Show c.-240A>G	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	240		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961484	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01071.hp2 HG01109.hp1 HG01168.hp1 others(24): Show HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 NA18612.hp1 NA18940.hp1 NA18962.hp1 NA19084.hp1 NA19085.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0010 others(1): Show a0001c0001 a0001c0006 a0001c0010 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0006t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0006t0002 a0001c0010t0002 a0002c0003t0002	a0001c0001t0002g0003 a0001c0001t0003g0006 a0001c0006t0002g0012 others(2): Show a0001c0001t0002g0003 a0001c0001t0003g0006 a0001c0006t0002g0012 a0001c0010t0002g0031 a0002c0003t0002g0008	27	110	0.2455	0	c.-25 others(4): Show c.-256A>G	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	256		chrX	TogoVar
CT47A7_chrX_120948282_120961600	120956470	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007	14	19	0.7368	0	c.-12 others(4): Show c.-125A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	125		chrX	TogoVar
CT47A7_chrX_120948282_120961600	120956485	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007	14	19	0.7368	0	c.-14 others(4): Show c.-140T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	140		chrX	TogoVar
CT47A7_chrX_120948282_120961600	120956505	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007	14	19	0.7368	0	c.-16 others(4): Show c.-160C>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	160		chrX	TogoVar
CT47A7_chrX_120948282_120961600	120956517	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007	14	19	0.7368	0	c.-17 others(4): Show c.-172C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	172		chrX	TogoVar
CT47A7_chrX_120948282_120961600	120956544	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007	14	19	0.7368	0	c.-19 others(4): Show c.-199C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	199		chrX	TogoVar
CT47A7_chrX_120948282_120961600	120956559	T T	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007	14	19	0.7368	0	c.-21 others(4): Show c.-214A>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	214		chrX	TogoVar
CT47A7_chrX_120948282_120961600	120956584	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007	14	19	0.7368	0	c.-23 others(4): Show c.-239C>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	239		chrX	TogoVar
CT47A7_chrX_120948282_120961600	120956585	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007	14	19	0.7368	0	c.-24 others(4): Show c.-240G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	240		chrX	TogoVar
CT47C1_chrX_119067993_119081765	119073178	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG01891.hp2 others(8): Show HG01099.hp1 HG01167.hp1 HG01891.hp2 HG02886.hp1 HG02896.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 NA18906.hp2 NA19240.hp1	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0008	a0002c0007 a0002c0012 a0002c0013 others(3): Show a0002c0007 a0002c0012 a0002c0013 a0005c0006 a0006c0008 a0008c0011	a0002c0007t0003 a0002c0012t0003 a0002c0013t0003 others(4): Show a0002c0007t0003 a0002c0012t0003 a0002c0013t0003 a0005c0006t0004 a0006c0008t0003 a0006c0008t0005 a0008c0011t0004	a0002c0007t0003g0005 a0002c0012t0003g0005 a0002c0013t0003g0005 others(4): Show a0002c0007t0003g0005 a0002c0012t0003g0005 a0002c0013t0003g0005 a0005c0006t0004g0006 a0006c0008t0003g0013 a0006c0008t0005g0012 a0008c0011t0004g0006	11	310	0.0355	0	c.-48 others(3): Show c.-48T>C	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	1/3	48		chrX	TogoVar
CT47C1_chrX_119067993_119081765	119073179	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG02896.hp2 others(1): Show HG01099.hp1 HG01167.hp1 HG02896.hp2 NA19240.hp1	a0005 a0008 a0005 a0008	a0005c0006 a0008c0011 a0005c0006 a0008c0011	a0005c0006t0004 a0008c0011t0004 a0005c0006t0004 a0008c0011t0004	a0005c0006t0004g0006 a0008c0011t0004g0006 a0005c0006t0004g0006 a0008c0011t0004g0006	4	310	0.0129	0	c.-47 others(3): Show c.-47G>A	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	1/3	47		chrX	TogoVar
CT55_chrX_135151540_135176398	135171202	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0041 a0001c0001t0007g0041	1	270	0.0037	0	c.-31 others(3): Show c.-31G>A	CT55	ENSG00000169551.13	transcript	ENST00000276241.11	protein_coding	1/6	31		chrX	TogoVar
CT55_chrX_135151540_135176398	135171289	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01517.hp1 HG01993.hp1 others(1): Show HG01081.hp2 HG01517.hp1 HG01993.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0016 a0001c0001t0003g0039 a0001c0001t0006g0040 a0001c0001t0003g0016 a0001c0001t0003g0039 a0001c0001t0006g0040	4	270	0.0148	0	c.-11 others(4): Show c.-118G>A	CT55	ENSG00000169551.13	transcript	ENST00000276241.11	protein_coding	1/6	118		chrX	TogoVar
CT55_chrX_135151540_135176398	135171326	G G	GC GC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0114 a0001c0001t0009g0114	1	270	0.0037	1	c.-15 others(5): Show c.-156dupG	CT55	ENSG00000169551.13	transcript	ENST00000276241.11	protein_coding	1/6	156		chrX	TogoVar
CT83_chrX_116456686_116467976	116462867	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	340	0.0029	0	c.-11 others(3): Show c.-11G>A	CT83	ENSG00000204019.5	transcript	ENST00000371894.5	protein_coding	1/2	11		chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585161	T T	TG TG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0007 a0012c0007t0007	a0012c0007t0007g0025 a0012c0007t0007g0025	1	293	0.0034	1	c.-43 others(4): Show c.-43dupG	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	42	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585187	C C	CG CG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0007 a0012c0007t0007	a0012c0007t0007g0025 a0012c0007t0007g0025	1	293	0.0034	1	c.-17 others(4): Show c.-17dupG	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	16	INFO_REALIGN_3_PRIME	chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154585188	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	293	0.0034	0	c.-19 others(3): Show c.-19G>A	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding	1/3	19		chrX	TogoVar

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