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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CISH_chr3_50601489_50616774	50608149	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	360	0.0028	0	c.242 others(5): Show c.242-7T>G		CISH	ENSG00000114737.16	transcript	ENST00000348721.4	protein_coding	2/2					chr3	TogoVar
CITED2_chr6_139366807_139379648	139374406	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	322	0.0031	0	c.-9+ others(4): Show c.-9+7G>A		CITED2	ENSG00000164442.11	transcript	ENST00000367651.4	protein_coding	1/1					chr6	TogoVar
CIT_chr12_119680791_119882320	119688253	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0155 a0001c0026t0002g0155	1	236	0.0042	0	c.618 others(4): Show c.6189C>G	p.Val others(7): Show p.Val2063Val	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	48/48	6274/8736	6189/6210	2063/2069		chr12	TogoVar
CIT_chr12_119680791_119882320	119688260	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0088	1	236	0.0042	0	c.618 others(6): Show c.6187-5C>T		CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	47/47					chr12	TogoVar
CIT_chr12_119680791_119882320	119708324	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	236	0.0042	0	c.507 others(6): Show c.5072-6G>T		CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	39/47					chr12	TogoVar
CIT_chr12_119680791_119882320	119752249	T T	TGA TGA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp1 HG01169.hp2 HG02258.hp1 others(9): Show HG01168.hp1 HG01169.hp2 HG02258.hp1 HG02280.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG03453.hp2 HG03540.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0007 a0002c0004t0011 others(1): Show a0002c0004t0003 a0002c0004t0007 a0002c0004t0011 a0002c0004t0019	a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0052 others(9): Show a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0052 a0002c0004t0007g0053 a0002c0004t0007g0054 a0002c0004t0007g0055 a0002c0004t0007g0057 a0002c0004t0011g0035 a0002c0004t0011g0038 a0002c0004t0011g0056 a0002c0004t0011g0162 a0002c0004t0019g0051	12	236	0.0509	2	c.270 others(15): Show c.2707-4_2707-3dupTC		CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	22/47					chr12	TogoVar
CIT_chr12_119680791_119882320	119752249	T T	TGAGA TGAGA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02280.hp1 HG03139.hp1 others(1): Show HG02109.hp2 HG02280.hp1 HG03139.hp1 HG06807.hp1	a0001 a0001	a0001c0008 a0001c0028 a0001c0008 a0001c0028	a0001c0008t0001 a0001c0028t0003 a0001c0008t0001 a0001c0028t0003	a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 others(1): Show a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 a0001c0028t0003g0229	4	236	0.0170	4	c.270 others(17): Show c.2707-6_2707-3dupTCTC		CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	22/47					chr12	TogoVar
CIT_chr12_119680791_119882320	119752249	T T	TGAGAGA TGAGAGA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp1 HG02897.hp1 HG02976.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0018 a0002c0004 a0004c0018	a0002c0004t0007 a0004c0018t0006 a0002c0004t0007 a0004c0018t0006	a0002c0004t0007g0050 a0004c0018t0006g0005 a0004c0018t0006g0006 a0002c0004t0007g0050 a0004c0018t0006g0005 a0004c0018t0006g0006	3	236	0.0127	6	c.270 others(19): Show c.2707-3_2707-2insTCTCTC		CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	22/47					chr12	TogoVar
CIT_chr12_119680791_119882320	119752254	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01168.hp1 HG01169.hp2 others(22): Show HG01109.hp1 HG01168.hp1 HG01169.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03453.hp2 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0007 a0001c0008 a0001c0028 others(2): Show a0001c0007 a0001c0008 a0001c0028 a0002c0004 a0004c0018	a0001c0007t0005 a0001c0008t0001 a0001c0028t0003 others(5): Show a0001c0007t0005 a0001c0008t0001 a0001c0028t0003 a0002c0004t0003 a0002c0004t0007 a0002c0004t0011 a0002c0004t0019 a0004c0018t0006	a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 others(22): Show a0001c0007t0005g0030 a0001c0007t0005g0062 a0001c0007t0005g0218 a0001c0007t0005g0219 a0001c0007t0005g0220 a0001c0007t0005g0228 a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 a0001c0028t0003g0229 a0002c0004t0003g0044 a0002c0004t0007g0033 a0002c0004t0007g0050 a0002c0004t0007g0052 a0002c0004t0007g0053 a0002c0004t0007g0054 a0002c0004t0007g0055 a0002c0004t0007g0057 a0002c0004t0011g0035 a0002c0004t0011g0038 a0002c0004t0011g0056 a0002c0004t0011g0162 a0002c0004t0019g0051 a0004c0018t0006g0005 a0004c0018t0006g0006	25	236	0.1059	0	c.270 others(6): Show c.2707-7G>C		CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	22/47					chr12	TogoVar
CIT_chr12_119680791_119882320	119757550	TG TG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG01069.hp1 HG01081.hp2 others(29): Show HG00735.hp2 HG01069.hp1 HG01081.hp2 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG02109.hp1 HG02293.hp2 HG02451.hp2 HG02630.hp2 HG02647.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03688.hp2 HG03834.hp1 HG03942.hp1 NA18906.hp1 NA18955.hp1 NA20752.hp2 NA21309.hp1	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0003 a0001c0013 a0001c0015 others(6): Show a0001c0003 a0001c0013 a0001c0015 a0001c0025 a0001c0029 a0001c0030 a0001c0035 a0006c0021 a0011c0036	a0001c0003t0003 a0001c0003t0005 a0001c0003t0017 others(9): Show a0001c0003t0003 a0001c0003t0005 a0001c0003t0017 a0001c0013t0003 a0001c0013t0005 a0001c0015t0006 a0001c0025t0003 a0001c0029t0003 a0001c0030t0005 a0001c0035t0003 a0006c0021t0003 a0011c0036t0003	a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 others(29): Show a0001c0003t0003g0024 a0001c0003t0003g0026 a0001c0003t0003g0031 a0001c0003t0003g0080 a0001c0003t0003g0086 a0001c0003t0003g0128 a0001c0003t0003g0150 a0001c0003t0003g0178 a0001c0003t0003g0183 a0001c0003t0003g0184 a0001c0003t0003g0185 a0001c0003t0003g0192 a0001c0003t0003g0193 a0001c0003t0003g0197 a0001c0003t0003g0198 a0001c0003t0003g0205 a0001c0003t0003g0208 a0001c0003t0003g0209 a0001c0003t0003g0213 a0001c0003t0005g0186 a0001c0003t0005g0189 a0001c0003t0005g0190 a0001c0003t0017g0060 a0001c0013t0003g0025 a0001c0013t0005g0029 a0001c0015t0006g0023 a0001c0025t0003g0064 a0001c0029t0003g0187 a0001c0030t0005g0032 a0001c0035t0003g0007 a0006c0021t0003g0003 a0011c0036t0003g0207	32	236	0.1356	-1	c.253 others(7): Show c.2532-6delC		CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	21/47					chr12	TogoVar
CIT_chr12_119680791_119882320	119876075	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0003 a0006c0021t0003	a0006c0021t0003g0003 a0006c0021t0003g0003	1	236	0.0042	0	c.94C others(2): Show c.94C>A	p.Gln others(5): Show p.Gln32Lys	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	2/48	179/8736	94/6210	32/2069		chr12	TogoVar
CIZ1_chr9_128161065_128196572	128180530	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG01069.hp1 HG01891.hp1 others(27): Show HG00639.hp1 HG01069.hp1 HG01891.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03831.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0022 a0002c0002 a0002c0022	a0002c0002t0001 a0002c0022t0001 a0002c0002t0001 a0002c0022t0001	a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0231 others(25): Show a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0231 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0272 a0002c0002t0001g0313 a0002c0022t0001g0075	30	380	0.0790	0	c.683 others(5): Show c.683-7A>G		CIZ1	ENSG00000148337.22	transcript	ENST00000372938.10	protein_coding	6/16					chr9	TogoVar
CKAP5_chr11_46738048_46851280	46765256	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0276 a0002c0012t0001g0276	1	294	0.0034	0	c.341 others(4): Show c.3412A>T	p.Ser others(7): Show p.Ser1138Cys	CKAP5	ENSG00000175216.15	transcript	ENST00000529230.6	protein_coding	28/44	3510/7172	3412/6099	1138/2032		chr11	TogoVar
CKB_chr14_103514667_103527830	103520119	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02723.hp2 HG03098.hp1 HG02572.hp1 HG02723.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	3	428	0.0070	0	c.967 others(5): Show c.967+3G>T		CKB	ENSG00000166165.14	transcript	ENST00000348956.7	protein_coding	7/7					chr14	TogoVar
CKB_chr14_103514667_103527830	103521954	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02717.hp2 HG02896.hp1 others(4): Show HG02109.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0026 a0001c0003t0001g0008 a0001c0003t0001g0026	7	428	0.0164	0	c.349 others(5): Show c.349-4C>G		CKB	ENSG00000166165.14	transcript	ENST00000348956.7	protein_coding	3/7					chr14	TogoVar
CKMT1A_chr15_43688859_43704222	43698968	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp1 HG02109.hp2 HG02165.hp2 others(3): Show HG01070.hp1 HG02109.hp2 HG02165.hp2 HG04228.hp2 NA19000.hp2 NA19055.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0005t0002	a0001c0003t0001g0013 a0001c0003t0002g0013 a0001c0003t0002g0032 others(3): Show a0001c0003t0001g0013 a0001c0003t0002g0013 a0001c0003t0002g0032 a0001c0003t0004g0038 a0001c0005t0002g0024 a0001c0005t0002g0031	6	392	0.0153	0	c.113 others(6): Show c.1138-5T>C		CKMT1A	ENSG00000223572.10	transcript	ENST00000413453.7	protein_coding	8/8					chr15	TogoVar
CKMT1A_chr15_43688859_43704222	43698970	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp1 HG02109.hp2 HG02165.hp2 others(3): Show HG01070.hp1 HG02109.hp2 HG02165.hp2 HG04228.hp2 NA19000.hp2 NA19055.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0005t0002	a0001c0003t0001g0013 a0001c0003t0002g0013 a0001c0003t0002g0032 others(3): Show a0001c0003t0001g0013 a0001c0003t0002g0013 a0001c0003t0002g0032 a0001c0003t0004g0038 a0001c0005t0002g0024 a0001c0005t0002g0031	6	392	0.0153	0	c.113 others(6): Show c.1138-3C>T		CKMT1A	ENSG00000223572.10	transcript	ENST00000413453.7	protein_coding	8/8					chr15	TogoVar
CKMT1B_chr15_43589027_43604406	43599152	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0028 a0001c0006t0005g0028	1	348	0.0029	0	c.113 others(6): Show c.1138-5C>T		CKMT1B	ENSG00000237289.10	transcript	ENST00000441322.6	protein_coding	8/8					chr15	TogoVar
CKMT1B_chr15_43589027_43604406	43599154	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0028 a0001c0006t0005g0028	1	348	0.0029	0	c.113 others(6): Show c.1138-3T>C		CKMT1B	ENSG00000237289.10	transcript	ENST00000441322.6	protein_coding	8/8					chr15	TogoVar
CKMT2_chr5_81228322_81271398	81254393	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	356	0.0028	0	c.352 others(5): Show c.352-3C>T		CKMT2	ENSG00000131730.16	transcript	ENST00000254035.9	protein_coding	3/9					chr5	TogoVar
CKS1B_chr1_154969681_154984251	154978121	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	292	0.0034	0	c.187 others(5): Show c.187+7G>C		CKS1B	ENSG00000173207.13	transcript	ENST00000308987.6	protein_coding	2/2					chr1	TogoVar
CKS2_chr9_89306195_89321703	89315103	G G	GGTACATG others(61): Show GGTACATGTATAAAGCGACAGTTGTAGAAAAGGCACTGGACTAACACTTG GCTGTATCTTGTAACAGGC	frameshift_variant others(2): Show frameshift_variant stop_gained splice_region_variant	HIGH	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	440	0.0023	68	c.60- others(76): Show c.60-66_61dupGTACATGTATAAAGCGACAGTTGTAGAAAAGGCACTG GACTAACACTTGGCTGTATCTTGTAACAGGC	p.His others(4): Show p.His21fs	CKS2	ENSG00000123975.5	transcript	ENST00000314355.7	protein_coding	2/3	160/616	62/240	21/79	INFO_REALIGN_3_PRIME	chr9	TogoVar
CLASP2_chr3_33491245_33723254	33663519	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp1 HG03098.hp2 NA20129.hp2 HG02965.hp1 HG03098.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0135 a0001c0001t0004g0165 a0001c0001t0004g0016 a0001c0001t0004g0135 a0001c0001t0004g0165	3	278	0.0108	0	c.645 others(5): Show c.645-4C>G		CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	6/38					chr3	TogoVar
CLASRP_chr19_45034045_45075956	45056541	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03490.hp2 NA20905.hp2 HG03490.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0121 a0001c0001t0001g0069 a0001c0001t0001g0121	2	364	0.0055	0	c.464 others(5): Show c.464+7C>T		CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding	6/20					chr19	TogoVar
CLASRP_chr19_45034045_45075956	45062151	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	364	0.0028	0	c.864 others(5): Show c.864-3T>C		CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding	10/20					chr19	TogoVar
CLASRP_chr19_45034045_45075956	45064224	C C	CT CT	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG02886.hp2 HG02970.hp2 NA18963.hp2 others(3): Show HG02886.hp2 HG02970.hp2 NA18963.hp2 NA18964.hp1 NA19002.hp2 NA19068.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0022 a0003c0003t0001g0027 a0003c0003t0001g0086 others(3): Show a0003c0003t0001g0022 a0003c0003t0001g0027 a0003c0003t0001g0086 a0003c0003t0001g0150 a0003c0003t0001g0163 a0003c0003t0001g0214	6	364	0.0165	1	c.111 others(10): Show c.1118_1119insT	p.Arg others(5): Show p.Arg374fs	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding	12/21	1212/2229	1119/2025	373/674		chr19	TogoVar
CLBA1_chr14_104980788_105000516	104988939	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	444	0.0023	0	c.424 others(5): Show c.424-4T>A		CLBA1	ENSG00000140104.14	transcript	ENST00000547315.6	protein_coding	1/4					chr14	TogoVar
CLBA1_chr14_104980788_105000516	104988943	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04199.hp1 HG04199.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0047 a0010c0011t0002g0047	1	444	0.0023	0	c.424 others(3): Show c.424C>T	p.Pro others(6): Show p.Pro142Ser	CLBA1	ENSG00000140104.14	transcript	ENST00000547315.6	protein_coding	2/5	1068/2379	424/978	142/325		chr14	TogoVar
CLCA1_chr1_86463927_86505259	86495683	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01928.hp2 HG01975.hp1 HG01928.hp2 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0353 a0001c0004t0001g0096 a0001c0003t0001g0353 a0001c0004t0001g0096	2	440	0.0046	0	c.211 others(6): Show c.2113+8A>G		CLCA1	ENSG00000016490.16	transcript	ENST00000394711.2	protein_coding	12/13					chr1	TogoVar
CLCA2_chr1_86419171_86461553	86430857	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0132 a0002c0003t0001g0132	1	414	0.0024	0	c.476 others(5): Show c.476-5C>T		CLCA2	ENSG00000137975.8	transcript	ENST00000370565.5	protein_coding	3/13					chr1	TogoVar
CLCA2_chr1_86419171_86461553	86430858	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(163): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01891.hp1 HG01928.hp2 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0011	a0001c0001 a0001c0002 a0001c0008 others(6): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0001c0014 a0001c0023 a0003c0021 a0007c0012 a0011c0022	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0008t0001 a0001c0009t0007 a0001c0014t0003 a0001c0023t0008 a0003c0021t0004 a0007c0012t0001 a0011c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0038 others(82): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0002g0004 a0001c0001t0002g0091 a0001c0001t0002g0101 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0013 a0001c0002t0001g0016 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0158 a0001c0008t0001g0033 a0001c0008t0001g0054 a0001c0009t0007g0097 a0001c0009t0007g0098 a0001c0009t0007g0162 a0001c0014t0003g0100 a0001c0014t0003g0102 a0001c0023t0008g0099 a0003c0021t0004g0090 a0007c0012t0001g0003 a0011c0022t0001g0147	166	414	0.4010	0	c.476 others(5): Show c.476-4G>A		CLCA2	ENSG00000137975.8	transcript	ENST00000370565.5	protein_coding	3/13					chr1	TogoVar
CLCA4_chr1_86542078_86585754	86563654	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp1 HG01257.hp2 HG02683.hp1 others(1): Show HG01081.hp1 HG01257.hp2 HG02683.hp1 NA21309.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0016 a0006c0007t0001g0064 a0006c0007t0001g0016 a0006c0007t0001g0064	4	334	0.0120	0	c.449 others(5): Show c.449-7C>T		CLCA4	ENSG00000016602.9	transcript	ENST00000370563.3	protein_coding	3/13					chr1	TogoVar
CLCC1_chr1_108924505_108968484	108943618	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(215): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0001c0012 others(3): Show a0001c0002 a0001c0009 a0001c0012 a0002c0003 a0002c0004 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(40): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0014 a0001c0002t0017 a0001c0002t0030 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0036 a0001c0002t0037 a0001c0002t0046 a0001c0009t0002 a0001c0012t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0009 a0002c0003t0011 a0002c0003t0012 a0002c0003t0013 a0002c0003t0015 a0002c0003t0020 a0002c0003t0023 a0002c0003t0024 a0002c0003t0025 a0002c0003t0027 a0002c0003t0028 a0002c0003t0029 a0002c0003t0032 a0002c0003t0038 a0002c0003t0039 a0002c0003t0040 a0002c0003t0043 a0002c0003t0044 a0002c0003t0045 a0002c0004t0021 a0002c0004t0022 a0002c0004t0023 a0002c0004t0042 a0002c0005t0012 a0002c0005t0018	a0001c0002t0001g0022 a0001c0002t0001g0049 a0001c0002t0001g0054 others(168): Show a0001c0002t0001g0022 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0073 a0001c0002t0001g0083 a0001c0002t0001g0100 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0121 a0001c0002t0001g0276 a0001c0002t0001g0290 a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0007 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0033 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0047 a0001c0002t0002g0050 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0099 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0124 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0143 a0001c0002t0002g0148 a0001c0002t0002g0151 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0174 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0215 a0001c0002t0002g0234 a0001c0002t0002g0267 a0001c0002t0002g0280 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0005g0009 a0001c0002t0005g0062 a0001c0002t0005g0072 a0001c0002t0005g0091 a0001c0002t0005g0117 a0001c0002t0005g0136 a0001c0002t0005g0217 a0001c0002t0005g0277 a0001c0002t0010g0019 a0001c0002t0010g0108 a0001c0002t0010g0229 a0001c0002t0014g0105 a0001c0002t0014g0138 a0001c0002t0017g0046 a0001c0002t0017g0134 a0001c0002t0017g0228 a0001c0002t0030g0051 a0001c0002t0031g0161 a0001c0002t0033g0079 a0001c0002t0034g0071 a0001c0002t0036g0076 a0001c0002t0037g0089 a0001c0002t0046g0053 a0001c0009t0002g0084 a0001c0012t0001g0180 a0002c0003t0003g0016 a0002c0003t0003g0140 a0002c0003t0003g0201 a0002c0003t0003g0202 a0002c0003t0003g0204 a0002c0003t0003g0206 a0002c0003t0003g0207 a0002c0003t0003g0208 a0002c0003t0003g0232 a0002c0003t0003g0235 a0002c0003t0003g0278 a0002c0003t0003g0279 a0002c0003t0004g0003 a0002c0003t0004g0169 a0002c0003t0004g0170 a0002c0003t0004g0171 a0002c0003t0004g0172 a0002c0003t0004g0173 a0002c0003t0004g0209 a0002c0003t0004g0291 a0002c0003t0006g0027 a0002c0003t0006g0032 a0002c0003t0006g0065 a0002c0003t0006g0152 a0002c0003t0006g0158 a0002c0003t0006g0175 a0002c0003t0006g0176 a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0009g0123 a0002c0003t0009g0135 a0002c0003t0009g0147 a0002c0003t0009g0233 a0002c0003t0011g0028 a0002c0003t0011g0181 a0002c0003t0011g0182 a0002c0003t0012g0118 a0002c0003t0012g0119 a0002c0003t0012g0285 a0002c0003t0013g0008 a0002c0003t0013g0211 a0002c0003t0015g0055 a0002c0003t0015g0057 a0002c0003t0015g0058 a0002c0003t0015g0060 a0002c0003t0020g0031 a0002c0003t0023g0122 a0002c0003t0024g0036 a0002c0003t0025g0101 a0002c0003t0025g0102 a0002c0003t0027g0294 a0002c0003t0028g0216 a0002c0003t0029g0150 a0002c0003t0032g0167 a0002c0003t0038g0168 a0002c0003t0039g0205 a0002c0003t0040g0137 a0002c0003t0043g0130 a0002c0003t0044g0142 a0002c0003t0045g0056 a0002c0004t0021g0126 a0002c0004t0021g0129 a0002c0004t0022g0125 a0002c0004t0022g0128 a0002c0004t0023g0127 a0002c0004t0042g0183 a0002c0005t0012g0030 a0002c0005t0018g0015	218	394	0.5533	-1	c.562 others(6): Show c.562-4delT		CLCC1	ENSG00000121940.17	transcript	ENST00000369969.7	protein_coding	6/12					chr1	TogoVar
CLCC1_chr1_108924505_108968484	108962477	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02818.hp2 HG02976.hp1 others(1): Show HG01884.hp1 HG02818.hp2 HG02976.hp1 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0028 a0002c0003t0011g0181 a0002c0003t0011g0182 a0002c0003t0011g0028 a0002c0003t0011g0181 a0002c0003t0011g0182	4	394	0.0102	0	c.-17 others(6): Show c.-172-8C>T		CLCC1	ENSG00000121940.17	transcript	ENST00000369969.7	protein_coding	1/12					chr1	TogoVar
CLCN1_chr7_143311111_143357083	143320660	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 NA18906.hp1 HG02572.hp2 NA18906.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0023 a0005c0010t0001g0024 a0005c0010t0001g0023 a0005c0010t0001g0024	2	414	0.0048	0	c.302 others(5): Show c.302-4C>T		CLCN1	ENSG00000188037.14	transcript	ENST00000343257.7	protein_coding	2/22					chr7	TogoVar
CLCN1_chr7_143311111_143357083	143330769	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	414	0.0024	0	c.854 others(5): Show c.854-3C>T		CLCN1	ENSG00000188037.14	transcript	ENST00000343257.7	protein_coding	7/22					chr7	TogoVar
CLCN1_chr7_143311111_143357083	143346256	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0030 a0002c0002t0001g0025 a0002c0002t0001g0030	2	414	0.0048	0	c.228 others(6): Show c.2284+5C>T		CLCN1	ENSG00000188037.14	transcript	ENST00000343257.7	protein_coding	18/22					chr7	TogoVar
CLCN2_chr3_184341185_184366605	184352006	G G	GCC GCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp2 HG01071.hp2 HG01175.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01175.hp2 HG03130.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0018 a0003c0007t0001g0018	4	460	0.0087	2	c.241 others(15): Show c.2415+5_2415+6dupGG		CLCN2	ENSG00000114859.16	transcript	ENST00000265593.9	protein_coding	22/23					chr3	TogoVar
CLCN2_chr3_184341185_184366605	184352435	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02486.hp2 HG02717.hp1 others(9): Show HG02109.hp2 HG02486.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03209.hp2 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0017 a0002c0004t0001g0039 a0002c0004t0001g0119 others(5): Show a0002c0004t0001g0017 a0002c0004t0001g0039 a0002c0004t0001g0119 a0002c0004t0001g0123 a0002c0004t0001g0124 a0002c0004t0001g0136 a0002c0004t0001g0137 a0002c0004t0001g0138	12	460	0.0261	0	c.227 others(6): Show c.2271+8T>G		CLCN2	ENSG00000114859.16	transcript	ENST00000265593.9	protein_coding	20/23					chr3	TogoVar
CLCN2_chr3_184341185_184366605	184357704	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	460	0.0022	0	c.694 others(5): Show c.694-6C>T		CLCN2	ENSG00000114859.16	transcript	ENST00000265593.9	protein_coding	6/23					chr3	TogoVar
CLCN2_chr3_184341185_184366605	184358967	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0209 a0001c0005t0001g0209	1	460	0.0022	0	c.220 others(5): Show c.220+8C>A		CLCN2	ENSG00000114859.16	transcript	ENST00000265593.9	protein_coding	2/23					chr3	TogoVar
CLCN3_chr4_169615578_169728673	169689230	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0065 a0001c0004t0002g0065	1	288	0.0035	0	c.606 others(3): Show c.606G>A	p.Glu others(6): Show p.Glu202Glu	CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	5/13	1108/6635	606/2457	202/818		chr4	TogoVar
CLCN3_chr4_169615578_169728673	169719899	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG03041.hp2 HG02723.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0207 a0001c0003t0022g0208 a0001c0003t0022g0207 a0001c0003t0022g0208	2	288	0.0069	0	c.236 others(6): Show c.2367-8C>T		CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	12/12					chr4	TogoVar
CLCN4_chrX_10151975_10242660	10187618	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02109.hp1 HG02630.hp2 others(2): Show HG01891.hp2 HG02109.hp1 HG02630.hp2 HG02886.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0029 a0001c0001t0002 a0001c0001t0008 a0001c0001t0029	a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 others(2): Show a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0008g0095 a0001c0001t0029g0098	5	264	0.0189	0	c.244 others(5): Show c.244+4C>G		CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	4/12					chrX	TogoVar
CLCN4_chrX_10151975_10242660	10195103	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0196 a0002c0004t0003g0196	1	264	0.0038	1	c.432 others(6): Show c.432+6dupT		CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	5/12				INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10212463	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0084 a0001c0001t0009g0084	1	264	0.0038	0	c.139 others(6): Show c.1390-4C>T		CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	9/12					chrX	TogoVar
CLCN4_chrX_10151975_10242660	10213675	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	264	0.0038	0	c.157 others(6): Show c.1577-6T>C		CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	10/12					chrX	TogoVar
CLCN5_chrX_49917596_50104230	50075789	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG02723.hp2 HG02976.hp2 others(3): Show HG01081.hp2 HG02723.hp2 HG02976.hp2 HG06807.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0006t0002 a0001c0001t0005 a0001c0006t0002	a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0006t0002g0133	6	175	0.0343	0	c.416 others(5): Show c.416-6A>T		CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	6/14					chrX	TogoVar
CLCN6_chr1_11801191_11848130	11807123	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp1 HG01167.hp2 NA21309.hp2 HG01070.hp1 HG01167.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0060 a0001c0001t0001g0013 a0001c0001t0001g0060	3	290	0.0103	0	c.88- others(4): Show c.88-8T>G		CLCN6	ENSG00000011021.23	transcript	ENST00000346436.11	protein_coding	1/22					chr1	TogoVar
CLCN6_chr1_11801191_11848130	11837163	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	290	0.0035	0	c.213 others(6): Show c.2138+7G>A		CLCN6	ENSG00000011021.23	transcript	ENST00000346436.11	protein_coding	19/22					chr1	TogoVar

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