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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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
CSDC2_chr22_41556010_41581666	41572363	CCCACCCA others(21): Show CCCACCCACCCACCCACCCACCCACCCAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01258.hp2 NA18973.hp1 others(1): Show HG01081.hp2 HG01258.hp2 NA18973.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0032 a0001c0001t0002 a0001c0001t0029 a0001c0001t0032	a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0029g0092 others(1): Show a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0029g0092 a0001c0001t0032g0152	4	288	0.0139	-28	c.176 others(43): Show c.176+226_176+253delCCCACCCACCCACCCACCCACCCATCCA	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSDE1_chr1_114711916_114762984	114754249	CCCCAAAG others(21): Show CCCCAAAGTGCTGGGATTACAGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	328	0.0031	-28	c.-38 others(47): Show c.-388+3648_-388+3675delCTCACGCCTGTAATCCCAGCACTTTG GG	CSDE1	ENSG00000009307.17	transcript	ENST00000358528.9	protein_coding	1/19			chr1	TogoVar
CSF1R_chr5_150048295_150091554	150049726	TGTGGAAT others(21): Show TGTGGAATGGTGCTTGGGGGGCCCTGTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	406	0.0025	-28	c.43 others(39): Show c.4315_*4342delTGACAGGGCCCCCCAAGCACCATTCCAC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding		3568		chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1282203	TCAAAAAA others(21): Show TCAAAAAAGAAAAAAAAAGTACAAAAGAG	T T	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0010 a0012c0011t0010	a0012c0011t0010g0054 a0012c0011t0010g0054	1	159	0.0063	-28	c.-26 others(43): Show c.-26-469_-26-442delAAGAAAAAAAAAGTACAAAAGAGCAAAA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666789	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18906.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0073 a0001c0002t0005g0074 a0001c0002t0005g0073 a0001c0002t0005g0074	2	238	0.0084	-28	c.-39 others(49): Show c.-391-64952_-391-64925delCTCTCTCTTTCTTTCTTTCTTTCT TTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666793	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	238	0.0042	-28	c.-39 others(49): Show c.-391-64956_-391-64929delCTCTCTCTCTCTTTCTTTCTTTCT TTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666933	GAGAGAGA others(21): Show GAGAGAGAGAAAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	238	0.0042	-28	c.-39 others(49): Show c.-391-65096_-391-65069delTTCTTTCTTTCTTTCTTTTTCTCT CTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666943	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	238	0.0042	-28	c.-39 others(49): Show c.-391-65106_-391-65079delCTTTCTTTCTTTCTTTCTTTCTTT CTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667012	AAAGAAAG others(21): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02300.hp1 HG03471.hp1 others(1): Show HG02004.hp2 HG02300.hp1 HG03471.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 a0001c0002 a0002c0003 a0002c0004	a0001c0002t0001 a0001c0002t0005 a0002c0003t0003 others(1): Show a0001c0002t0001 a0001c0002t0005 a0002c0003t0003 a0002c0004t0005	a0001c0002t0001g0115 a0001c0002t0005g0074 a0002c0003t0003g0068 others(1): Show a0001c0002t0001g0115 a0001c0002t0005g0074 a0002c0003t0003g0068 a0002c0004t0005g0015	4	238	0.0168	-28	c.-39 others(49): Show c.-391-65175_-391-65148delCCTTCCTTCCTTCCTTCCTTCCTT TCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSH2_chr17_63867016_63878677	63875552	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01243.hp1 HG01884.hp2 others(28): Show HG01099.hp1 HG01243.hp1 HG01884.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0003g0004 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0003g0004 a0001c0001t0003g0016 a0001c0001t0004g0011	31	410	0.0756	-28	c.-19 others(39): Show c.-1966_-1939delGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding		1876		chr17	TogoVar
CSH2_chr17_63867016_63878677	63875585	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	410	0.0024	-28	c.-19 others(39): Show c.-1999_-1972delGGAAAGAAAGAAAGAAAGAAAGAAAGAA	CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding		1909		chr17	TogoVar
CSHL1_chr17_63904608_63916258	63912753	GTTTCTTT others(21): Show GTTTCTTTCTTTCTTTCTTTCTTTCTTTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02965.hp2 HG03490.hp1 others(16): Show HG02132.hp1 HG02965.hp2 HG03490.hp1 HG03492.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18968.hp2 NA18970.hp2 NA18974.hp2 NA18979.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA19007.hp1 NA19010.hp2 NA19054.hp2 NA19082.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0002c0002t0002g0002 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0002c0002t0002g0002 a0002c0002t0002g0043	19	438	0.0434	-28	c.-15 others(39): Show c.-1585_-1558delGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CSHL1	ENSG00000204414.14	transcript	ENST00000309894.6	protein_coding		1496		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3021681	CGGAATGC others(21): Show CGGAATGCACCTGCAATCCCACAGCATCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02280.hp2 others(2): Show HG02055.hp1 HG02257.hp1 HG02280.hp2 HG02965.hp1 HG03139.hp1	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0007 a0030	a0002c0074 a0003c0034 a0006c0083 others(2): Show a0002c0074 a0003c0034 a0006c0083 a0007c0088 a0030c0052	a0002c0074t0041 a0003c0034t0030 a0006c0083t0004 others(2): Show a0002c0074t0041 a0003c0034t0030 a0006c0083t0004 a0007c0088t0076 a0030c0052t0049	a0002c0074t0041g0031 a0003c0034t0030g0038 a0006c0083t0004g0006 others(2): Show a0002c0074t0041g0031 a0003c0034t0030g0038 a0006c0083t0004g0006 a0007c0088t0076g0057 a0030c0052t0049g0098	5	126	0.0397	-28	c.785 others(47): Show c.7856-3059_7856-3032delAGATGCTGTGGGATTGCAGGTGCATT CC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	51/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3021949	GATCCCAC others(21): Show GATCCCACAGCATCTGGAATGCACCTGCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0081 a0001c0081	a0001c0081t0037 a0001c0081t0037	a0001c0081t0037g0030 a0001c0081t0037g0030	1	126	0.0079	-28	c.785 others(47): Show c.7856-3327_7856-3300delTGCAGGTGCATTCCAGATGCTGTGGG AT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	51/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3021963	TGGAATGC others(21): Show TGGAATGCACCTGCAATCCCACAGCATCA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp2 HG02723.hp1 HG03098.hp2	a0011 a0024 a0011 a0024	a0011c0110 a0024c0038 a0011c0110 a0024c0038	a0011c0110t0074 a0024c0038t0075 a0011c0110t0074 a0024c0038t0075	a0011c0110t0074g0082 a0024c0038t0075g0067 a0011c0110t0074g0082 a0024c0038t0075g0067	2	126	0.0159	-28	c.785 others(47): Show c.7856-3341_7856-3314delTGATGCTGTGGGATTGCAGGTGCATT CC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	51/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3310794	CACACAGC others(21): Show CACACAGCACCCAGGAGGTATCCACCTTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp2 others(28): Show HG00099.hp2 HG00423.hp1 HG00438.hp2 HG00735.hp2 HG01123.hp2 HG01261.hp1 HG01934.hp1 HG02056.hp1 HG02056.hp2 HG02257.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02965.hp2 HG03139.hp2 HG03225.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA19074.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0022 a0024 a0025 a0026 a0038	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0025 a0001c0033 a0001c0043 a0001c0071 a0001c0073 a0001c0080 a0001c0081 a0001c0105 a0001c0108 a0001c0109 a0002c0012 a0002c0030 a0002c0036 a0002c0037 a0002c0075 a0002c0076 a0002c0084 a0004c0086 a0004c0087 a0022c0013 a0024c0038 a0025c0096 a0026c0082 a0038c0066	a0001c0001t0002 a0001c0002t0002 a0001c0003t0008 others(28): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0008 a0001c0003t0013 a0001c0003t0019 a0001c0005t0007 a0001c0006t0002 a0001c0025t0003 a0001c0033t0003 a0001c0043t0031 a0001c0071t0069 a0001c0073t0007 a0001c0080t0040 a0001c0081t0037 a0001c0105t0001 a0001c0108t0054 a0001c0109t0038 a0002c0012t0017 a0002c0030t0016 a0002c0036t0029 a0002c0037t0009 a0002c0075t0026 a0002c0076t0035 a0002c0084t0018 a0004c0086t0002 a0004c0087t0001 a0022c0013t0007 a0024c0038t0075 a0025c0096t0067 a0026c0082t0052 a0038c0066t0010	a0001c0001t0002g0102 a0001c0002t0002g0083 a0001c0003t0008g0053 others(28): Show a0001c0001t0002g0102 a0001c0002t0002g0083 a0001c0003t0008g0053 a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0005t0007g0070 a0001c0006t0002g0109 a0001c0025t0003g0077 a0001c0033t0003g0059 a0001c0043t0031g0044 a0001c0071t0069g0115 a0001c0073t0007g0108 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0105t0001g0029 a0001c0108t0054g0074 a0001c0109t0038g0013 a0002c0012t0017g0088 a0002c0030t0016g0122 a0002c0036t0029g0009 a0002c0037t0009g0046 a0002c0075t0026g0051 a0002c0076t0035g0014 a0002c0084t0018g0087 a0004c0086t0002g0118 a0004c0087t0001g0022 a0022c0013t0007g0112 a0024c0038t0075g0067 a0025c0096t0067g0116 a0026c0082t0052g0097 a0038c0066t0010g0032	31	126	0.2460	-28	c.363 others(47): Show c.3632-2319_3632-2292delTAAGGTGGATACCTCCTGGGTGCTGT GT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3926082	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19240.hp2 HG02257.hp1 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0045 a0007c0088 a0001c0045 a0007c0088	a0001c0045t0012 a0007c0088t0076 a0001c0045t0012 a0007c0088t0076	a0001c0045t0012g0010 a0007c0088t0076g0057 a0001c0045t0012g0010 a0007c0088t0076g0057	2	126	0.0159	-28	c.818 others(47): Show c.818+71793_818+71820delGTGTGTGTGTGTGTGTGTGTGTGTGT GT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4135357	AGGGAAGG others(21): Show AGGGAAGGAAGGGGAAAGTGGGAAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02615.hp2 others(3): Show HG02280.hp2 HG02559.hp2 HG02615.hp2 HG03225.hp2 HG03710.hp2 NA18906.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0022	a0001c0004 a0001c0025 a0001c0043 others(3): Show a0001c0004 a0001c0025 a0001c0043 a0002c0032 a0003c0034 a0022c0013	a0001c0004t0063 a0001c0025t0003 a0001c0043t0031 others(3): Show a0001c0004t0063 a0001c0025t0003 a0001c0043t0031 a0002c0032t0050 a0003c0034t0030 a0022c0013t0007	a0001c0004t0063g0095 a0001c0025t0003g0077 a0001c0043t0031g0044 others(3): Show a0001c0004t0063g0095 a0001c0025t0003g0077 a0001c0043t0031g0044 a0002c0032t0050g0061 a0003c0034t0030g0038 a0022c0013t0007g0112	6	126	0.0476	-28	c.416 others(49): Show c.416-103286_416-103259delCCTCTTTCCCACTTTCCCCTTCCT TCCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4135375	TGGGAAAG others(21): Show TGGGAAAGAGGGGGAAGGAAGGGGAAAGA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02622.hp2 others(1): Show HG01884.hp2 HG02451.hp2 HG02622.hp2 HG03139.hp1	a0002 a0010 a0029 a0002 a0010 a0029	a0002c0022 a0002c0074 a0010c0112 others(1): Show a0002c0022 a0002c0074 a0010c0112 a0029c0028	a0002c0022t0036 a0002c0074t0041 a0010c0112t0081 others(1): Show a0002c0022t0036 a0002c0074t0041 a0010c0112t0081 a0029c0028t0024	a0002c0022t0036g0048 a0002c0074t0041g0031 a0010c0112t0081g0090 others(1): Show a0002c0022t0036g0048 a0002c0074t0041g0031 a0010c0112t0081g0090 a0029c0028t0024g0040	4	126	0.0318	-28	c.416 others(49): Show c.416-103304_416-103277delTCTTTCCCCTTCCTTCCCCCTCTT TCCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4205705	ATAATAGA others(21): Show ATAATAGAGGTTTATTTCAGCTCACTTCC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG01261.hp2 others(13): Show HG01081.hp2 HG01243.hp1 HG01261.hp2 HG02055.hp1 HG02074.hp2 HG02280.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02886.hp2 HG03098.hp2 HG03516.hp1 HG03540.hp2 HG04204.hp2 HG06807.hp1 NA19240.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0009 a0011 a0016 a0026	a0001c0001 a0001c0085 a0002c0030 others(13): Show a0001c0001 a0001c0085 a0002c0030 a0002c0035 a0002c0078 a0002c0091 a0003c0014 a0003c0034 a0003c0058 a0005c0064 a0005c0107 a0006c0083 a0009c0113 a0011c0110 a0016c0063 a0026c0082	a0001c0001t0002 a0001c0085t0020 a0002c0030t0016 others(13): Show a0001c0001t0002 a0001c0085t0020 a0002c0030t0016 a0002c0035t0047 a0002c0078t0044 a0002c0091t0002 a0003c0014t0055 a0003c0034t0030 a0003c0058t0057 a0005c0064t0051 a0005c0107t0068 a0006c0083t0004 a0009c0113t0011 a0011c0110t0074 a0016c0063t0010 a0026c0082t0052	a0001c0001t0002g0102 a0001c0085t0020g0060 a0002c0030t0016g0122 others(13): Show a0001c0001t0002g0102 a0001c0085t0020g0060 a0002c0030t0016g0122 a0002c0035t0047g0076 a0002c0078t0044g0064 a0002c0091t0002g0114 a0003c0014t0055g0056 a0003c0034t0030g0038 a0003c0058t0057g0117 a0005c0064t0051g0078 a0005c0107t0068g0073 a0006c0083t0004g0006 a0009c0113t0011g0043 a0011c0110t0074g0082 a0016c0063t0010g0045 a0026c0082t0052g0097	16	126	0.1270	-28	c.416 others(49): Show c.416-173634_416-173607delGGAAGTGAGCTGAAATAAACCTCT ATTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4342199	CTGTGTCT others(21): Show CTGTGTCTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(74): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01934.hp2 HG02055.hp2 HG02074.hp1 HG02129.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19074.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1	a0001 a0002 a0003 others(28): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0023 a0025 a0026 a0028 a0031 a0033 a0034 a0035 a0036 a0037 a0038 a0039	a0001c0001 a0001c0002 a0001c0003 others(72): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0020 a0001c0021 a0001c0025 a0001c0026 a0001c0039 a0001c0040 a0001c0046 a0001c0049 a0001c0059 a0001c0061 a0001c0068 a0001c0073 a0001c0079 a0001c0080 a0001c0093 a0001c0102 a0001c0105 a0001c0108 a0001c0109 a0002c0015 a0002c0030 a0002c0031 a0002c0032 a0002c0035 a0002c0036 a0002c0041 a0002c0048 a0002c0051 a0002c0054 a0002c0060 a0002c0070 a0002c0076 a0002c0077 a0002c0084 a0002c0092 a0003c0057 a0003c0058 a0004c0056 a0004c0086 a0004c0099 a0005c0065 a0005c0107 a0007c0029 a0008c0067 a0009c0113 a0010c0112 a0012c0104 a0013c0027 a0014c0010 a0015c0062 a0016c0063 a0017c0106 a0018c0044 a0019c0018 a0020c0024 a0021c0016 a0023c0095 a0025c0096 a0026c0082 a0028c0097 a0031c0069 a0033c0042 a0034c0055 a0035c0098 a0036c0100 a0037c0101 a0038c0066 a0039c0009	a0001c0001t0002 a0001c0002t0028 a0001c0002t0061 others(74): Show a0001c0001t0002 a0001c0002t0028 a0001c0002t0061 a0001c0003t0008 a0001c0003t0013 a0001c0004t0063 a0001c0005t0007 a0001c0006t0060 a0001c0007t0032 a0001c0020t0016 a0001c0021t0005 a0001c0025t0003 a0001c0026t0006 a0001c0039t0066 a0001c0040t0019 a0001c0046t0073 a0001c0049t0002 a0001c0059t0001 a0001c0061t0001 a0001c0068t0015 a0001c0073t0007 a0001c0079t0072 a0001c0080t0040 a0001c0093t0009 a0001c0102t0005 a0001c0105t0001 a0001c0108t0054 a0001c0109t0038 a0002c0015t0021 a0002c0030t0016 a0002c0031t0015 a0002c0032t0050 a0002c0035t0047 a0002c0036t0029 a0002c0041t0027 a0002c0048t0013 a0002c0051t0006 a0002c0054t0079 a0002c0060t0006 a0002c0070t0046 a0002c0076t0035 a0002c0077t0001 a0002c0084t0018 a0002c0092t0001 a0003c0057t0080 a0003c0058t0057 a0004c0056t0062 a0004c0086t0002 a0004c0099t0014 a0005c0065t0023 a0005c0107t0068 a0007c0029t0011 a0008c0067t0059 a0009c0113t0011 a0010c0112t0081 a0012c0104t0071 a0013c0027t0003 a0014c0010t0070 a0015c0062t0056 a0016c0063t0010 a0017c0106t0012 a0018c0044t0064 a0019c0018t0058 a0020c0024t0077 a0021c0016t0048 a0023c0095t0002 a0025c0096t0067 a0026c0082t0052 a0028c0097t0018 a0031c0069t0043 a0033c0042t0004 a0034c0055t0034 a0035c0098t0025 a0036c0100t0017 a0037c0101t0008 a0038c0066t0010 a0039c0009t0001	a0001c0001t0002g0125 a0001c0002t0028g0005 a0001c0002t0061g0069 others(74): Show a0001c0001t0002g0125 a0001c0002t0028g0005 a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0003t0013g0026 a0001c0004t0063g0095 a0001c0005t0007g0070 a0001c0006t0060g0103 a0001c0007t0032g0033 a0001c0020t0016g0065 a0001c0021t0005g0012 a0001c0025t0003g0077 a0001c0026t0006g0093 a0001c0039t0066g0080 a0001c0040t0019g0123 a0001c0046t0073g0091 a0001c0049t0002g0071 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0073t0007g0108 a0001c0079t0072g0113 a0001c0080t0040g0025 a0001c0093t0009g0007 a0001c0102t0005g0034 a0001c0105t0001g0029 a0001c0108t0054g0074 a0001c0109t0038g0013 a0002c0015t0021g0008 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0032t0050g0061 a0002c0035t0047g0076 a0002c0036t0029g0009 a0002c0041t0027g0018 a0002c0048t0013g0015 a0002c0051t0006g0081 a0002c0054t0079g0096 a0002c0060t0006g0094 a0002c0070t0046g0092 a0002c0076t0035g0014 a0002c0077t0001g0016 a0002c0084t0018g0087 a0002c0092t0001g0011 a0003c0057t0080g0075 a0003c0058t0057g0117 a0004c0056t0062g0072 a0004c0086t0002g0118 a0004c0099t0014g0020 a0005c0065t0023g0050 a0005c0107t0068g0073 a0007c0029t0011g0054 a0008c0067t0059g0079 a0009c0113t0011g0043 a0010c0112t0081g0090 a0012c0104t0071g0058 a0013c0027t0003g0099 a0014c0010t0070g0084 a0015c0062t0056g0062 a0016c0063t0010g0045 a0017c0106t0012g0042 a0018c0044t0064g0085 a0019c0018t0058g0068 a0020c0024t0077g0104 a0021c0016t0048g0106 a0023c0095t0002g0124 a0025c0096t0067g0116 a0026c0082t0052g0097 a0028c0097t0018g0089 a0031c0069t0043g0100 a0033c0042t0004g0004 a0034c0055t0034g0047 a0035c0098t0025g0019 a0036c0100t0017g0121 a0037c0101t0008g0023 a0038c0066t0010g0032 a0039c0009t0001g0002	77	126	0.6111	-28	c.415 others(47): Show c.415+77726_415+77753delCACACACACACACACACACACAGACA CA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4364824	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	126	0.0079	-28	c.415 others(47): Show c.415+55101_415+55128delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4379675	AGGGGAAG others(21): Show AGGGGAAGAGGGCAATGAAGCAACAATGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0084 a0002c0084	a0002c0084t0018 a0002c0084t0018	a0002c0084t0018g0087 a0002c0084t0018g0087	1	126	0.0079	-28	c.415 others(47): Show c.415+40250_415+40277delCCATTGTTGCTTCATTGCCCTCTTCC CC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4379676	GGGGAAGA others(21): Show GGGGAAGAGGGCAATGAAGCAACAATGGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(45): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG01074.hp1 HG01081.hp2 HG01261.hp2 HG01884.hp2 HG01934.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02622.hp1 HG02683.hp2 HG02886.hp2 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03834.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18995.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0005 others(12): Show a0001 a0002 a0005 a0007 a0009 a0012 a0016 a0018 a0020 a0027 a0028 a0032 a0036 a0037 a0038	a0001c0001 a0001c0002 a0001c0003 others(44): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0017 a0001c0025 a0001c0026 a0001c0040 a0001c0045 a0001c0050 a0001c0059 a0001c0061 a0001c0071 a0001c0079 a0001c0080 a0001c0081 a0001c0085 a0001c0094 a0001c0102 a0001c0103 a0001c0105 a0001c0109 a0001c0114 a0002c0012 a0002c0022 a0002c0030 a0002c0032 a0002c0035 a0002c0037 a0002c0048 a0002c0075 a0002c0078 a0002c0089 a0005c0107 a0007c0088 a0009c0113 a0012c0104 a0016c0063 a0018c0044 a0020c0024 a0027c0023 a0028c0097 a0032c0011 a0036c0100 a0037c0101 a0038c0066	a0001c0001t0039 a0001c0002t0002 a0001c0002t0028 others(45): Show a0001c0001t0039 a0001c0002t0002 a0001c0002t0028 a0001c0003t0019 a0001c0005t0007 a0001c0007t0001 a0001c0017t0005 a0001c0025t0003 a0001c0026t0006 a0001c0040t0019 a0001c0045t0012 a0001c0050t0053 a0001c0059t0001 a0001c0061t0001 a0001c0071t0069 a0001c0079t0072 a0001c0080t0040 a0001c0081t0037 a0001c0085t0020 a0001c0094t0002 a0001c0102t0005 a0001c0103t0033 a0001c0105t0001 a0001c0109t0038 a0001c0114t0003 a0002c0012t0017 a0002c0022t0036 a0002c0030t0016 a0002c0032t0050 a0002c0035t0047 a0002c0037t0009 a0002c0048t0013 a0002c0075t0026 a0002c0078t0044 a0002c0089t0001 a0005c0107t0068 a0007c0088t0076 a0009c0113t0011 a0012c0104t0071 a0016c0063t0010 a0018c0044t0064 a0020c0024t0077 a0027c0023t0001 a0028c0097t0018 a0032c0011t0065 a0036c0100t0017 a0037c0101t0008 a0038c0066t0010	a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0002t0028g0005 others(45): Show a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0002t0028g0005 a0001c0003t0019g0107 a0001c0005t0007g0070 a0001c0007t0001g0035 a0001c0017t0005g0003 a0001c0025t0003g0077 a0001c0026t0006g0093 a0001c0040t0019g0123 a0001c0045t0012g0010 a0001c0050t0053g0120 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0071t0069g0115 a0001c0079t0072g0113 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0085t0020g0060 a0001c0094t0002g0110 a0001c0102t0005g0034 a0001c0103t0033g0028 a0001c0105t0001g0029 a0001c0109t0038g0013 a0001c0114t0003g0119 a0002c0012t0017g0088 a0002c0022t0036g0048 a0002c0030t0016g0122 a0002c0032t0050g0061 a0002c0035t0047g0076 a0002c0037t0009g0046 a0002c0048t0013g0015 a0002c0075t0026g0051 a0002c0078t0044g0064 a0002c0089t0001g0037 a0005c0107t0068g0073 a0007c0088t0076g0057 a0009c0113t0011g0043 a0012c0104t0071g0058 a0016c0063t0010g0045 a0018c0044t0064g0085 a0020c0024t0077g0104 a0027c0023t0001g0052 a0028c0097t0018g0089 a0032c0011t0065g0101 a0036c0100t0017g0121 a0037c0101t0008g0023 a0038c0066t0010g0032	48	126	0.3810	-28	c.415 others(47): Show c.415+40249_415+40276delGCCATTGTTGCTTCATTGCCCTCTTC CC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4446733	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTCTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0114 a0001c0114	a0001c0114t0003 a0001c0114t0003	a0001c0114t0003g0119 a0001c0114t0003g0119	1	126	0.0079	-28	c.303 others(47): Show c.303-26696_303-26669delCACACAGACACACACACACACACACA CA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486180	CATATATA others(21): Show CATATATATATATATATATACATACATAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0002 a0001c0049t0002	a0001c0049t0002g0071 a0001c0049t0002g0071	1	126	0.0079	-28	c.303 others(47): Show c.303-66143_303-66116delATATGTATGTATATATATATATATAT AT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486202	TACATATA others(21): Show TACATATATATATATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0004 a0004	a0004c0099 a0004c0099	a0004c0099t0014 a0004c0099t0014	a0004c0099t0014g0020 a0004c0099t0014g0020	1	126	0.0079	-28	c.303 others(47): Show c.303-66165_303-66138delGTATGTATATATATATATATATATAT GT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4742000	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0003 a0001c0025t0003	a0001c0025t0003g0077 a0001c0025t0003g0077	1	126	0.0079	-28	c.86- others(47): Show c.86-104470_86-104443delAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4761894	CCTATCTA others(21): Show CCTATCTATCTATCTATCAATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18982.hp2 HG01243.hp2 NA18982.hp2	a0001 a0035 a0001 a0035	a0001c0005 a0035c0098 a0001c0005 a0035c0098	a0001c0005t0002 a0035c0098t0025 a0001c0005t0002 a0035c0098t0025	a0001c0005t0002g0111 a0035c0098t0025g0019 a0001c0005t0002g0111 a0035c0098t0025g0019	2	126	0.0159	-28	c.86- others(47): Show c.86-124364_86-124337delATAGATAGATTGATAGATAGATAGAT AG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4761912	AATCTATC others(21): Show AATCTATCTATCTATCTATCTATCTATCT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0006 a0001c0026t0006	a0001c0026t0006g0093 a0001c0026t0006g0093	1	126	0.0079	-28	c.86- others(47): Show c.86-124382_86-124355delAGATAGATAGATAGATAGATAGATAG AT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33989013	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02965.hp1 HG01069.hp2 HG01071.hp2 HG02965.hp1	a0003 a0015 a0003 a0015	a0003c0004 a0015c0053 a0003c0004 a0015c0053	a0003c0004t0003 a0015c0053t0002 a0003c0004t0003 a0015c0053t0002	a0003c0004t0003g0053 a0003c0004t0003g0054 a0015c0053t0002g0024 a0003c0004t0003g0053 a0003c0004t0003g0054 a0015c0053t0002g0024	3	66	0.0455	-28	c.517 others(47): Show c.517+43553_517+43580delATATATATATATATATATATATATAT AT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34080921	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG02647.hp2 others(18): Show HG01069.hp1 HG01243.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG06807.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0007 a0012 a0014 a0016 a0017 a0019 a0026 a0027 a0028 a0029 a0030 a0031	a0001c0001 a0001c0044 a0002c0006 others(18): Show a0001c0001 a0001c0044 a0002c0006 a0002c0027 a0003c0037 a0003c0048 a0004c0031 a0004c0051 a0005c0015 a0007c0025 a0012c0028 a0014c0036 a0016c0033 a0017c0052 a0019c0030 a0026c0023 a0027c0018 a0028c0010 a0029c0009 a0030c0008 a0031c0007	a0001c0001t0003 a0001c0044t0002 a0002c0006t0001 others(18): Show a0001c0001t0003 a0001c0044t0002 a0002c0006t0001 a0002c0027t0003 a0003c0037t0007 a0003c0048t0006 a0004c0031t0004 a0004c0051t0001 a0005c0015t0001 a0007c0025t0001 a0012c0028t0007 a0014c0036t0002 a0016c0033t0012 a0017c0052t0003 a0019c0030t0003 a0026c0023t0003 a0027c0018t0001 a0028c0010t0017 a0029c0009t0018 a0030c0008t0004 a0031c0007t0002	a0001c0001t0003g0063 a0001c0044t0002g0026 a0002c0006t0001g0008 others(18): Show a0001c0001t0003g0063 a0001c0044t0002g0026 a0002c0006t0001g0008 a0002c0027t0003g0045 a0003c0037t0007g0038 a0003c0048t0006g0032 a0004c0031t0004g0005 a0004c0051t0001g0019 a0005c0015t0001g0021 a0007c0025t0001g0042 a0012c0028t0007g0041 a0014c0036t0002g0044 a0016c0033t0012g0028 a0017c0052t0003g0040 a0019c0030t0003g0020 a0026c0023t0003g0039 a0027c0018t0001g0048 a0028c0010t0017g0064 a0029c0009t0018g0065 a0030c0008t0004g0001 a0031c0007t0002g0002	21	66	0.3182	-28	c.404 others(45): Show c.404+8028_404+8055delTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD3_chr8_112217928_113441939	112494494	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03490.hp1 HG02735.hp1 HG03490.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0002 a0002c0005 a0003c0002	a0002c0005t0001 a0003c0002t0001 a0002c0005t0001 a0003c0002t0001	a0002c0005t0001g0036 a0003c0002t0001g0059 a0002c0005t0001g0036 a0003c0002t0001g0059	2	80	0.0250	-28	c.508 others(47): Show c.5084-1839_5084-1812delAAAGAAAGAAAGAAAGAAAGAAAGAA AG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	30/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113112386	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01074.hp2 HG02258.hp1 others(1): Show HG00673.hp2 HG01074.hp2 HG02258.hp1 HG02922.hp1	a0002 a0004 a0017 a0002 a0004 a0017	a0002c0003 a0002c0010 a0004c0004 others(1): Show a0002c0003 a0002c0010 a0004c0004 a0017c0029	a0002c0003t0002 a0002c0010t0002 a0004c0004t0001 others(1): Show a0002c0003t0002 a0002c0010t0002 a0004c0004t0001 a0017c0029t0004	a0002c0003t0002g0006 a0002c0010t0002g0070 a0004c0004t0001g0076 others(1): Show a0002c0003t0002g0006 a0002c0010t0002g0070 a0004c0004t0001g0076 a0017c0029t0004g0063	4	80	0.0500	-28	c.710 others(47): Show c.710-13451_710-13424delATATATATATATATATATATATATAT AT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542612	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0238 a0001c0001t0009g0238	1	390	0.0026	-28	c.230 others(45): Show c.230+7435_230+7462delCATATATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64210110	GAAGGGTA others(21): Show GAAGGGTACCTAAATAAGGTACCCAAAAT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	176	0.0057	-28	c.680 others(45): Show c.680-2544_680-2517delATTTTGGGTACCTTATTTAGGTACCCTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	6/11			chr15	TogoVar
CSNK1G2_chr19_1936172_1986338	1956567	ACCCGGCA others(21): Show ACCCGGCAGCTGTGGCTGTGGCACAGGCG	A A	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0252 a0001c0001t0007g0252	1	382	0.0026	-28	c.-26 others(49): Show c.-265-12939_-265-12912delCCGGCAGCTGTGGCTGTGGCACAG GCGC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNKA2IP_chr3_88333456_88472594	88446026	TTTCTTTT others(21): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02602.hp1 HG02738.hp1 others(5): Show HG02135.hp2 HG02602.hp1 HG02738.hp1 HG04228.hp1 NA18965.hp2 NA18970.hp1 NA18979.hp2 NA19084.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0013 a0001c0001 a0011c0013	a0001c0001t0001 a0001c0001t0002 a0011c0013t0002 a0001c0001t0001 a0001c0001t0002 a0011c0013t0002	a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0002g0309 others(5): Show a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0002g0309 a0001c0001t0002g0336 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369 a0011c0013t0002g0279	8	386	0.0207	-28	c.-27 others(49): Show c.-270-19059_-270-19032delCTTTTCTTTCTTTCTTTCTTTCTT TCTT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88446030	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0011 a0008c0009t0001g0011	1	386	0.0026	-28	c.-27 others(49): Show c.-270-19014_-270-18987delCTTTCTTTCTTTCTTTCTTTCTTT CTTT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSRNP3_chr2_165464698_165694407	165666838	GGAAGGAA others(21): Show GGAAGGAAGGGAGGAAAGAGAGAGAGTAA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	246	0.0041	-28	c.408 others(45): Show c.408+8822_408+8849delGGAAGGGAGGAAAGAGAGAGAGTAAGAA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRP2_chr12_76853709_76884019	76874542	TTTTCCTT others(21): Show TTTTCCTTTAGGAGCACTCGGGGCCTGAA	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03704.hp1 HG02300.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0348 a0001c0001t0001g0265 a0001c0001t0001g0348	2	388	0.0052	-28	c.-2+ others(43): Show c.-2+4368_-2+4395delTTCAGGCCCCGAGTGCTCCTAAAGGAAA	CSRP2	ENSG00000175183.10	transcript	ENST00000311083.10	protein_coding	1/5			chr12	TogoVar
CSRP3_chr11_19177030_19206983	19197364	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03491.hp1 HG04115.hp2 others(8): Show HG02027.hp1 HG03491.hp1 HG04115.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18981.hp1 NA18982.hp1 NA19066.hp1 NA19066.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0068 others(8): Show a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0121	11	416	0.0264	-28	c.-29 others(45): Show c.-29+4562_-29+4589delAAGGGAGGGAGGGAGGGAGGGAGGGAGG	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CSRP3_chr11_19177030_19206983	19197368	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	416	0.0024	-28	c.-29 others(45): Show c.-29+4558_-29+4585delAAGGAAGGGAGGGAGGGAGGGAGGGAGG	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CSRP3_chr11_19177030_19206983	19197372	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19064.hp1 NA19012.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0349 a0001c0001t0001g0330 a0001c0001t0001g0349	2	416	0.0048	-28	c.-29 others(45): Show c.-29+4554_-29+4581delAAGGAAGGAAGGGAGGGAGGGAGGGAGG	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CSRP3_chr11_19177030_19206983	19197501	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	416	0.0024	-28	c.-29 others(45): Show c.-29+4425_-29+4452delAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CST8_chr20_23486117_23501010	23490057	ATATATAT others(21): Show ATATATATATAAATTATATATATATTAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	440	0.0023	-28	c.-14 others(39): Show c.-1428_-1401delTATATATATAAATTATATATATATTAAT	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		1059		chr20	TogoVar
CST9L_chr20_23559732_23573484	23560932	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 NA18945.hp2 HG00621.hp1 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	392	0.0051	-28	c.39 others(39): Show c.3988_*4015delGGAAAGAAAGAAAGAAAGAAAGAAAGAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3799		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561012	CTTCCTTC others(21): Show CTTCCTTCCTTCTTTCCTTCTTTCCTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	392	0.0026	-28	c.39 others(39): Show c.3908_*3935delAGAAGGAAAGAAGGAAAGAAGGAAGGAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3719		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561020	CTTCTTTC others(21): Show CTTCTTTCCTTCTTTCCTTCTTTCCTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG01884.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0007 a0001c0001t0001g0012	2	392	0.0051	-28	c.39 others(39): Show c.3900_*3927delAGAAGGAAAGAAGGAAAGAAGGAAAGAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3711		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561032	TTTCCTTC others(21): Show TTTCCTTCTTTCCTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	392	0.0026	-28	c.38 others(39): Show c.3888_*3915delGGAAAGAAGGAAAGAAGGAAAGAAGGAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3699		chr20	TogoVar

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