Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
CSMD1_chr8_2930361_4999914	3729942	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01255.hp1 HG02055.hp1 others(3): Show HG00423.hp2 HG01255.hp1 HG02055.hp1 HG02258.hp1 HG04204.hp1 NA18983.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0034	a0001c0105 a0001c0114 a0002c0031 others(3): Show a0001c0105 a0001c0114 a0002c0031 a0002c0089 a0006c0083 a0034c0055	a0001c0105t0001 a0001c0114t0003 a0002c0031t0015 others(3): Show a0001c0105t0001 a0001c0114t0003 a0002c0031t0015 a0002c0089t0001 a0006c0083t0004 a0034c0055t0034	a0001c0105t0001g0029 a0001c0114t0003g0119 a0002c0031t0015g0001 others(3): Show a0001c0105t0001g0029 a0001c0114t0003g0119 a0002c0031t0015g0001 a0002c0089t0001g0037 a0006c0083t0004g0006 a0034c0055t0034g0047	6	126	0.0476	-20	c.932 others(39): Show c.932-21471_932-21452delGTTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3817252	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp1 HG01123.hp2 others(20): Show HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01243.hp1 HG01884.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA20129.hp2	a0001 a0002 a0005 others(10): Show a0001 a0002 a0005 a0006 a0010 a0013 a0017 a0019 a0020 a0022 a0026 a0033 a0034	a0001c0001 a0001c0003 a0001c0006 others(19): Show a0001c0001 a0001c0003 a0001c0006 a0001c0025 a0001c0043 a0001c0046 a0001c0047 a0001c0068 a0001c0111 a0002c0060 a0002c0074 a0005c0064 a0006c0116 a0010c0112 a0013c0027 a0017c0106 a0019c0018 a0020c0024 a0022c0013 a0026c0082 a0033c0042 a0034c0055	a0001c0001t0002 a0001c0003t0008 a0001c0006t0002 others(20): Show a0001c0001t0002 a0001c0003t0008 a0001c0006t0002 a0001c0006t0060 a0001c0025t0003 a0001c0043t0031 a0001c0046t0073 a0001c0047t0014 a0001c0068t0015 a0001c0111t0045 a0002c0060t0006 a0002c0074t0041 a0005c0064t0051 a0006c0116t0004 a0010c0112t0081 a0013c0027t0003 a0017c0106t0012 a0019c0018t0058 a0020c0024t0077 a0022c0013t0007 a0026c0082t0052 a0033c0042t0004 a0034c0055t0034	a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0006t0002g0109 others(20): Show a0001c0001t0002g0125 a0001c0003t0008g0053 a0001c0006t0002g0109 a0001c0006t0060g0103 a0001c0025t0003g0077 a0001c0043t0031g0044 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0068t0015g0049 a0001c0111t0045g0063 a0002c0060t0006g0094 a0002c0074t0041g0031 a0005c0064t0051g0078 a0006c0116t0004g0039 a0010c0112t0081g0090 a0013c0027t0003g0099 a0017c0106t0012g0042 a0019c0018t0058g0068 a0020c0024t0077g0104 a0022c0013t0007g0112 a0026c0082t0052g0097 a0033c0042t0004g0004 a0034c0055t0034g0047	23	126	0.1825	-20	c.819 others(39): Show c.819-63230_819-63211delAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3926082	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0031 a0001c0043t0031	a0001c0043t0031g0044 a0001c0043t0031g0044	1	126	0.0079	-20	c.818 others(39): Show c.818+71801_818+71820delGTGTGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3984704	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02451.hp1 HG02723.hp2 others(4): Show HG00099.hp2 HG02451.hp1 HG02723.hp2 NA18979.hp1 NA18984.hp2 NA19074.hp1 NA19090.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0001c0005 a0002c0036 others(4): Show a0001c0003 a0001c0005 a0002c0036 a0002c0051 a0002c0076 a0002c0092 a0005c0065	a0001c0003t0013 a0001c0005t0007 a0002c0036t0029 others(4): Show a0001c0003t0013 a0001c0005t0007 a0002c0036t0029 a0002c0051t0006 a0002c0076t0035 a0002c0092t0001 a0005c0065t0023	a0001c0003t0013g0026 a0001c0005t0007g0070 a0002c0036t0029g0009 others(4): Show a0001c0003t0013g0026 a0001c0005t0007g0070 a0002c0036t0029g0009 a0002c0051t0006g0081 a0002c0076t0035g0014 a0002c0092t0001g0011 a0005c0065t0023g0050	7	126	0.0556	-20	c.818 others(39): Show c.818+13179_818+13198delATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4078891	TAATAAAT others(13): Show TAATAAATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0021 a0002c0015t0021	a0002c0015t0021g0008 a0002c0015t0021g0008	1	126	0.0079	-20	c.416 others(39): Show c.416-46812_416-46793delTATATATATATATATTTATT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4115964	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG01123.hp1 others(21): Show HG00099.hp1 HG00423.hp2 HG01123.hp1 HG01884.hp1 HG01934.hp2 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG03225.hp1 HG03540.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18906.hp1 NA18979.hp2 NA19074.hp1 NA19090.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0008 a0009 a0024 a0028	a0001c0001 a0001c0004 a0001c0007 others(20): Show a0001c0001 a0001c0004 a0001c0007 a0001c0017 a0001c0040 a0001c0046 a0001c0068 a0001c0079 a0001c0080 a0001c0103 a0002c0032 a0002c0070 a0002c0076 a0002c0078 a0002c0084 a0002c0089 a0002c0092 a0004c0087 a0004c0099 a0008c0008 a0009c0113 a0024c0038 a0028c0097	a0001c0001t0002 a0001c0001t0039 a0001c0004t0020 others(21): Show a0001c0001t0002 a0001c0001t0039 a0001c0004t0020 a0001c0007t0032 a0001c0017t0005 a0001c0040t0019 a0001c0046t0073 a0001c0068t0015 a0001c0079t0072 a0001c0080t0040 a0001c0103t0033 a0002c0032t0050 a0002c0070t0046 a0002c0076t0035 a0002c0078t0044 a0002c0084t0018 a0002c0089t0001 a0002c0092t0001 a0004c0087t0001 a0004c0099t0014 a0008c0008t0082 a0009c0113t0011 a0024c0038t0075 a0028c0097t0018	a0001c0001t0002g0102 a0001c0001t0039g0017 a0001c0004t0020g0086 others(21): Show a0001c0001t0002g0102 a0001c0001t0039g0017 a0001c0004t0020g0086 a0001c0007t0032g0033 a0001c0017t0005g0003 a0001c0040t0019g0123 a0001c0046t0073g0091 a0001c0068t0015g0049 a0001c0079t0072g0113 a0001c0080t0040g0025 a0001c0103t0033g0028 a0002c0032t0050g0061 a0002c0070t0046g0092 a0002c0076t0035g0014 a0002c0078t0044g0064 a0002c0084t0018g0087 a0002c0089t0001g0037 a0002c0092t0001g0011 a0004c0087t0001g0022 a0004c0099t0014g0020 a0008c0008t0082g0126 a0009c0113t0011g0043 a0024c0038t0075g0067 a0028c0097t0018g0089	24	126	0.1905	-20	c.416 others(39): Show c.416-83885_416-83866delTAAATAAATAAATAAATAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4138044	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01261.hp1 HG02683.hp1 others(3): Show HG00099.hp2 HG01261.hp1 HG02683.hp1 HG03130.hp2 HG03540.hp2 HG03669.hp2	a0001 a0009 a0018 a0001 a0009 a0018	a0001c0001 a0001c0005 a0001c0021 others(3): Show a0001c0001 a0001c0005 a0001c0021 a0001c0108 a0009c0113 a0018c0044	a0001c0001t0039 a0001c0005t0007 a0001c0021t0005 others(3): Show a0001c0001t0039 a0001c0005t0007 a0001c0021t0005 a0001c0108t0054 a0009c0113t0011 a0018c0044t0064	a0001c0001t0039g0017 a0001c0005t0007g0070 a0001c0021t0005g0012 others(3): Show a0001c0001t0039g0017 a0001c0005t0007g0070 a0001c0021t0005g0012 a0001c0108t0054g0074 a0009c0113t0011g0043 a0018c0044t0064g0085	6	126	0.0476	-20	c.416 others(41): Show c.416-105965_416-105946delAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4332552	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02886.hp2 others(6): Show HG02280.hp2 HG02451.hp1 HG02886.hp2 HG03098.hp1 HG04204.hp2 HG06807.hp1 NA19030.hp1 NA19074.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0019 others(6): Show a0001c0001 a0001c0002 a0001c0019 a0001c0045 a0001c0090 a0002c0035 a0002c0051 a0002c0078 a0003c0034	a0001c0001t0002 a0001c0002t0028 a0001c0019t0078 others(6): Show a0001c0001t0002 a0001c0002t0028 a0001c0019t0078 a0001c0045t0012 a0001c0090t0001 a0002c0035t0047 a0002c0051t0006 a0002c0078t0044 a0003c0034t0030	a0001c0001t0002g0102 a0001c0002t0028g0005 a0001c0019t0078g0105 others(6): Show a0001c0001t0002g0102 a0001c0002t0028g0005 a0001c0019t0078g0105 a0001c0045t0012g0010 a0001c0090t0001g0027 a0002c0035t0047g0076 a0002c0051t0006g0081 a0002c0078t0044g0064 a0003c0034t0030g0038	9	126	0.0714	-20	c.415 others(39): Show c.415+87381_415+87400delGTGTGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4388303	TACACACA others(13): Show TACACACACACACACACAGAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp1 HG03225.hp2 others(1): Show HG02258.hp1 HG02723.hp1 HG03225.hp2 NA18522.hp1	a0001 a0024 a0027 a0001 a0024 a0027	a0001c0025 a0001c0114 a0024c0038 others(1): Show a0001c0025 a0001c0114 a0024c0038 a0027c0023	a0001c0025t0003 a0001c0114t0003 a0024c0038t0075 others(1): Show a0001c0025t0003 a0001c0114t0003 a0024c0038t0075 a0027c0023t0001	a0001c0025t0003g0077 a0001c0114t0003g0119 a0024c0038t0075g0067 others(1): Show a0001c0025t0003g0077 a0001c0114t0003g0119 a0024c0038t0075g0067 a0027c0023t0001g0052	4	126	0.0318	-20	c.415 others(39): Show c.415+31630_415+31649delGTCTGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4402801	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01071.hp1 others(18): Show HG00099.hp1 HG00735.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG02056.hp2 HG02258.hp1 HG02683.hp1 HG03209.hp1 HG03225.hp2 HG03669.hp1 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0027 a0028 a0035	a0001c0001 a0001c0003 a0001c0005 others(18): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0020 a0001c0021 a0001c0025 a0001c0040 a0001c0049 a0001c0059 a0001c0068 a0001c0071 a0001c0073 a0001c0080 a0001c0108 a0001c0114 a0002c0041 a0004c0056 a0027c0023 a0028c0097 a0035c0098	a0001c0001t0002 a0001c0003t0008 a0001c0005t0002 others(18): Show a0001c0001t0002 a0001c0003t0008 a0001c0005t0002 a0001c0006t0002 a0001c0020t0016 a0001c0021t0005 a0001c0025t0003 a0001c0040t0019 a0001c0049t0002 a0001c0059t0001 a0001c0068t0015 a0001c0071t0069 a0001c0073t0007 a0001c0080t0040 a0001c0108t0054 a0001c0114t0003 a0002c0041t0027 a0004c0056t0062 a0027c0023t0001 a0028c0097t0018 a0035c0098t0025	a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0005t0002g0111 others(18): Show a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0005t0002g0111 a0001c0006t0002g0109 a0001c0020t0016g0065 a0001c0021t0005g0012 a0001c0025t0003g0077 a0001c0040t0019g0123 a0001c0049t0002g0071 a0001c0059t0001g0036 a0001c0068t0015g0049 a0001c0071t0069g0115 a0001c0073t0007g0108 a0001c0080t0040g0025 a0001c0108t0054g0074 a0001c0114t0003g0119 a0002c0041t0027g0018 a0004c0056t0062g0072 a0027c0023t0001g0052 a0028c0097t0018g0089 a0035c0098t0025g0019	21	126	0.1667	-20	c.415 others(39): Show c.415+17132_415+17151delGAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4446735	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0001 a0001c0059t0001	a0001c0059t0001g0036 a0001c0059t0001g0036	1	126	0.0079	-20	c.303 others(39): Show c.303-26690_303-26671delGACACACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4565749	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18522.hp2 HG03130.hp2 NA18522.hp2	a0002 a0018 a0002 a0018	a0002c0072 a0018c0044 a0002c0072 a0018c0044	a0002c0072t0003 a0018c0044t0064 a0002c0072t0003 a0018c0044t0064	a0002c0072t0003g0066 a0018c0044t0064g0085 a0002c0072t0003g0066 a0018c0044t0064g0085	2	126	0.0159	-20	c.302 others(39): Show c.302+71573_302+71592delATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4707886	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00438.hp2 others(23): Show HG00099.hp1 HG00423.hp2 HG00438.hp2 HG00735.hp1 HG01074.hp2 HG01255.hp2 HG01261.hp2 HG01934.hp1 HG01934.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp2 HG02280.hp1 HG03098.hp2 HG03225.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18971.hp1 NA18983.hp2 NA18995.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0011 a0016 a0021 a0028 a0034 a0039	a0001c0001 a0001c0003 a0001c0006 others(22): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0025 a0001c0040 a0001c0049 a0001c0071 a0001c0079 a0001c0081 a0001c0105 a0002c0012 a0002c0053 a0002c0077 a0002c0089 a0003c0057 a0004c0056 a0004c0087 a0004c0099 a0011c0110 a0016c0063 a0021c0016 a0028c0097 a0034c0055 a0039c0009	a0001c0001t0002 a0001c0003t0019 a0001c0006t0002 others(23): Show a0001c0001t0002 a0001c0003t0019 a0001c0006t0002 a0001c0006t0060 a0001c0007t0032 a0001c0025t0003 a0001c0040t0019 a0001c0049t0002 a0001c0071t0069 a0001c0079t0072 a0001c0081t0037 a0001c0105t0001 a0002c0012t0017 a0002c0053t0022 a0002c0077t0001 a0002c0089t0001 a0003c0057t0080 a0004c0056t0062 a0004c0087t0001 a0004c0099t0014 a0011c0110t0074 a0016c0063t0010 a0021c0016t0048 a0028c0097t0018 a0034c0055t0034 a0039c0009t0001	a0001c0001t0002g0102 a0001c0003t0019g0107 a0001c0006t0002g0109 others(23): Show a0001c0001t0002g0102 a0001c0003t0019g0107 a0001c0006t0002g0109 a0001c0006t0060g0103 a0001c0007t0032g0033 a0001c0025t0003g0077 a0001c0040t0019g0123 a0001c0049t0002g0071 a0001c0071t0069g0115 a0001c0079t0072g0113 a0001c0081t0037g0030 a0001c0105t0001g0029 a0002c0012t0017g0088 a0002c0053t0022g0041 a0002c0077t0001g0016 a0002c0089t0001g0037 a0003c0057t0080g0075 a0004c0056t0062g0072 a0004c0087t0001g0022 a0004c0099t0014g0020 a0011c0110t0074g0082 a0016c0063t0010g0045 a0021c0016t0048g0106 a0028c0097t0018g0089 a0034c0055t0034g0047 a0039c0009t0001g0002	26	126	0.2064	-20	c.86- others(37): Show c.86-70348_86-70329delTTTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4761894	CCTATCTA others(13): Show CCTATCTATCTATCTATCAAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02683.hp2 HG03540.hp2 others(2): Show HG02486.hp1 HG02683.hp2 HG03540.hp2 HG03710.hp2 NA19074.hp1	a0002 a0009 a0022 others(1): Show a0002 a0009 a0022 a0037	a0002c0037 a0002c0076 a0009c0113 others(2): Show a0002c0037 a0002c0076 a0009c0113 a0022c0013 a0037c0101	a0002c0037t0009 a0002c0076t0035 a0009c0113t0011 others(2): Show a0002c0037t0009 a0002c0076t0035 a0009c0113t0011 a0022c0013t0007 a0037c0101t0008	a0002c0037t0009g0046 a0002c0076t0035g0014 a0009c0113t0011g0043 others(2): Show a0002c0037t0009g0046 a0002c0076t0035g0014 a0009c0113t0011g0043 a0022c0013t0007g0112 a0037c0101t0008g0023	5	126	0.0397	-20	c.86- others(39): Show c.86-124356_86-124337delATTGATAGATAGATAGATAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33643889	TGAAGGAA others(13): Show TGAAGGAAGGAAGGAAGGAAG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01074.hp1 HG01978.hp2 others(3): Show HG00438.hp1 HG01074.hp1 HG01978.hp2 NA18998.hp1 NA18998.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0042 a0001c0047 a0002c0006 others(3): Show a0001c0042 a0001c0047 a0002c0006 a0003c0003 a0004c0034 a0010c0056	a0001c0042t0005 a0001c0047t0001 a0002c0006t0001 others(3): Show a0001c0042t0005 a0001c0047t0001 a0002c0006t0001 a0003c0003t0005 a0004c0034t0015 a0010c0056t0001	a0001c0042t0005g0051 a0001c0047t0001g0031 a0002c0006t0001g0008 others(3): Show a0001c0042t0005g0051 a0001c0047t0001g0031 a0002c0006t0001g0008 a0003c0003t0005g0029 a0004c0034t0015g0015 a0010c0056t0001g0047	6	66	0.0909	-20	c.477 others(39): Show c.4774+2739_4774+2758delCTTCCTTCCTTCCTTCCTTC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	29/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33707691	GCGCGCAC others(13): Show GCGCGCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03195.hp2 HG02809.hp2 HG03195.hp2	a0003 a0029 a0003 a0029	a0003c0048 a0029c0009 a0003c0048 a0029c0009	a0003c0048t0006 a0029c0009t0018 a0003c0048t0006 a0029c0009t0018	a0003c0048t0006g0032 a0029c0009t0018g0065 a0003c0048t0006g0032 a0029c0009t0018g0065	2	66	0.0303	-20	c.357 others(39): Show c.3576+1378_3576+1397delTGTGTGTGTGTGTGTGCGCG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	22/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33707693	GCGCACAC others(13): Show GCGCACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0010 a0001c0040t0001g0010	1	66	0.0152	-20	c.357 others(39): Show c.3576+1376_3576+1395delTGTGTGTGTGTGTGTGTGCG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	22/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33774107	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0053 a0003c0004t0003g0054 a0003c0004t0003g0053 a0003c0004t0003g0054	2	66	0.0303	-20	c.166 others(39): Show c.1664-1376_1664-1357delCACACACACACACACACACA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	12/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34080921	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0006 a0003c0035t0006	a0003c0035t0006g0006 a0003c0035t0006g0006	1	66	0.0152	-20	c.404 others(37): Show c.404+8036_404+8055delTTTCTTTCTTTCTTTCTTTC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34135242	TCACACAC others(13): Show TCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG03225.hp2 others(1): Show HG02922.hp2 HG03139.hp2 HG03225.hp2 NA19043.hp2	a0004 a0005 a0027 others(1): Show a0004 a0005 a0027 a0030	a0004c0031 a0005c0012 a0027c0018 others(1): Show a0004c0031 a0005c0012 a0027c0018 a0030c0008	a0004c0031t0004 a0005c0012t0001 a0027c0018t0001 others(1): Show a0004c0031t0004 a0005c0012t0001 a0027c0018t0001 a0030c0008t0004	a0004c0031t0004g0005 a0005c0012t0001g0003 a0027c0018t0001g0048 others(1): Show a0004c0031t0004g0005 a0005c0012t0001g0003 a0027c0018t0001g0048 a0030c0008t0004g0001	4	66	0.0606	-20	c.187 others(39): Show c.187+29649_187+29668delTGTGTGTGTGTGTGTGTGTG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	1/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34169616	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGAGAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01069.hp1 others(9): Show HG00438.hp2 HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01192.hp2 HG02717.hp1 HG02886.hp2 HG02965.hp1 HG03017.hp1 HG03195.hp1 NA20300.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0007 a0011 a0012 a0013 a0015	a0001c0001 a0001c0040 a0001c0044 others(8): Show a0001c0001 a0001c0040 a0001c0044 a0002c0002 a0004c0034 a0004c0051 a0007c0025 a0011c0039 a0012c0028 a0013c0041 a0015c0053	a0001c0001t0001 a0001c0040t0001 a0001c0044t0002 others(9): Show a0001c0001t0001 a0001c0040t0001 a0001c0044t0002 a0002c0002t0001 a0002c0002t0010 a0004c0034t0015 a0004c0051t0001 a0007c0025t0001 a0011c0039t0014 a0012c0028t0007 a0013c0041t0005 a0015c0053t0002	a0001c0001t0001g0062 a0001c0040t0001g0010 a0001c0044t0002g0026 others(9): Show a0001c0001t0001g0062 a0001c0040t0001g0010 a0001c0044t0002g0026 a0002c0002t0001g0013 a0002c0002t0010g0016 a0004c0034t0015g0015 a0004c0051t0001g0019 a0007c0025t0001g0042 a0011c0039t0014g0014 a0012c0028t0007g0041 a0013c0041t0005g0011 a0015c0053t0002g0024	12	66	0.1818	-20	c.-45 others(31): Show c.-4539_-4520delACTCTCTCTCTCTCTCTCTC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding		4387		chr1	TogoVar
CSMD3_chr8_112217928_113441939	112270343	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02717.hp1 others(6): Show HG02055.hp2 HG02559.hp2 HG02717.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 NA20300.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0008 a0011 a0013	a0001c0023 a0002c0032 a0005c0012 others(5): Show a0001c0023 a0002c0032 a0005c0012 a0005c0013 a0007c0009 a0008c0014 a0011c0035 a0013c0026	a0001c0023t0001 a0002c0032t0001 a0005c0012t0001 others(5): Show a0001c0023t0001 a0002c0032t0001 a0005c0012t0001 a0005c0013t0001 a0007c0009t0001 a0008c0014t0005 a0011c0035t0001 a0013c0026t0001	a0001c0023t0001g0056 a0002c0032t0001g0079 a0005c0012t0001g0038 others(6): Show a0001c0023t0001g0056 a0002c0032t0001g0079 a0005c0012t0001g0038 a0005c0013t0001g0039 a0007c0009t0001g0048 a0007c0009t0001g0069 a0008c0014t0005g0040 a0011c0035t0001g0003 a0013c0026t0001g0057	9	80	0.1125	-20	c.950 others(39): Show c.9509-4773_9509-4754delACACACACACACACACACAC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	59/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112361572	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG01109.hp1 HG02257.hp1	a0002 a0002	a0002c0003 a0002c0027 a0002c0003 a0002c0027	a0002c0003t0002 a0002c0027t0003 a0002c0003t0002 a0002c0027t0003	a0002c0003t0002g0051 a0002c0027t0003g0047 a0002c0003t0002g0051 a0002c0027t0003g0047	2	80	0.0250	-20	c.613 others(39): Show c.6137-9058_6137-9039delATATATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112410608	ATATATAT others(13): Show ATATATATGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0005 a0002c0028t0005	a0002c0028t0005g0078 a0002c0028t0005g0078	1	80	0.0125	-20	c.539 others(39): Show c.5396-1596_5396-1577delCACATATATATACATATATA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112455591	GTAAATAA others(13): Show GTAAATAAATAAATAAATAAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00741.hp2 others(25): Show HG00423.hp1 HG00438.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp1 HG02735.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03490.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 NA18944.hp1 NA19030.hp2 NA19043.hp2 NA19063.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0012 a0014 a0015 a0016	a0001c0001 a0001c0007 a0001c0017 others(14): Show a0001c0001 a0001c0007 a0001c0017 a0001c0019 a0001c0024 a0002c0003 a0002c0005 a0002c0010 a0002c0011 a0002c0027 a0002c0028 a0002c0033 a0003c0002 a0012c0022 a0014c0030 a0015c0031 a0016c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0007t0001 a0001c0017t0003 a0001c0019t0005 a0001c0024t0002 a0002c0003t0002 a0002c0005t0001 a0002c0010t0002 a0002c0011t0001 a0002c0027t0003 a0002c0028t0005 a0002c0033t0002 a0003c0002t0001 a0012c0022t0001 a0014c0030t0001 a0015c0031t0002 a0016c0034t0002	a0001c0001t0001g0016 a0001c0001t0002g0014 a0001c0001t0002g0022 others(25): Show a0001c0001t0001g0016 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0068 a0001c0001t0003g0010 a0001c0001t0004g0002 a0001c0001t0004g0018 a0001c0007t0001g0012 a0001c0017t0003g0017 a0001c0019t0005g0065 a0001c0024t0002g0024 a0002c0003t0002g0006 a0002c0003t0002g0051 a0002c0005t0001g0027 a0002c0005t0001g0033 a0002c0005t0001g0035 a0002c0005t0001g0036 a0002c0010t0002g0070 a0002c0011t0001g0001 a0002c0027t0003g0047 a0002c0028t0005g0078 a0002c0033t0002g0029 a0003c0002t0001g0075 a0012c0022t0001g0013 a0014c0030t0001g0030 a0015c0031t0002g0049 a0016c0034t0002g0011	28	80	0.3500	-20	c.539 others(41): Show c.5395+16980_5395+16999delTTTATTTATTTATTTATTTA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112494494	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01169.hp2 HG02257.hp1 others(1): Show HG01109.hp1 HG01169.hp2 HG02257.hp1 HG02735.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0027 a0002c0003 a0002c0005 a0002c0027	a0002c0003t0002 a0002c0003t0008 a0002c0005t0001 others(1): Show a0002c0003t0002 a0002c0003t0008 a0002c0005t0001 a0002c0027t0003	a0002c0003t0002g0051 a0002c0003t0008g0077 a0002c0005t0001g0035 others(1): Show a0002c0003t0002g0051 a0002c0003t0008g0077 a0002c0005t0001g0035 a0002c0027t0003g0047	4	80	0.0500	-20	c.508 others(39): Show c.5084-1831_5084-1812delAAAGAAAGAAAGAAAGAAAG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	30/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112636538	TTCTATCT others(13): Show TTCTATCTATCTATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00673.hp2 others(35): Show HG00423.hp2 HG00438.hp2 HG00673.hp2 HG00741.hp1 HG01081.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 NA18990.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010 a0011 a0013 a0017	a0001c0001 a0001c0007 a0001c0015 others(11): Show a0001c0001 a0001c0007 a0001c0015 a0002c0003 a0002c0005 a0002c0010 a0003c0002 a0004c0004 a0006c0008 a0007c0009 a0010c0025 a0011c0035 a0013c0026 a0017c0029	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0007t0001 a0001c0015t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0008 a0002c0005t0001 a0002c0010t0006 a0003c0002t0001 a0004c0004t0001 a0004c0004t0009 a0006c0008t0005 a0007c0009t0001 a0010c0025t0003 a0011c0035t0001 a0013c0026t0001 a0017c0029t0004	a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0003g0010 others(35): Show a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0003g0010 a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0015 a0001c0001t0004g0018 a0001c0001t0004g0042 a0001c0001t0004g0067 a0001c0001t0007g0041 a0001c0007t0001g0043 a0001c0015t0001g0026 a0002c0003t0003g0062 a0002c0003t0006g0009 a0002c0003t0008g0077 a0002c0005t0001g0036 a0002c0010t0006g0064 a0003c0002t0001g0008 a0003c0002t0001g0019 a0003c0002t0001g0020 a0003c0002t0001g0021 a0003c0002t0001g0050 a0003c0002t0001g0053 a0003c0002t0001g0059 a0003c0002t0001g0066 a0003c0002t0001g0072 a0004c0004t0001g0028 a0004c0004t0001g0031 a0004c0004t0001g0034 a0004c0004t0001g0076 a0004c0004t0009g0032 a0006c0008t0005g0004 a0006c0008t0005g0005 a0007c0009t0001g0048 a0010c0025t0003g0052 a0011c0035t0001g0003 a0013c0026t0001g0057 a0017c0029t0004g0063	38	80	0.4750	-20	c.371 others(37): Show c.3715+259_3715+278delTAGATAGATAGATAGATAGA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	22/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112692913	ATATCTAT others(13): Show ATATCTATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02809.hp1 HG02976.hp2 HG00741.hp2 HG02809.hp1 HG02976.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0007 a0002c0003 a0016c0034 a0001c0007 a0002c0003 a0016c0034	a0001c0007t0001 a0002c0003t0006 a0016c0034t0002 a0001c0007t0001 a0002c0003t0006 a0016c0034t0002	a0001c0007t0001g0043 a0002c0003t0006g0009 a0016c0034t0002g0011 a0001c0007t0001g0043 a0002c0003t0006g0009 a0016c0034t0002g0011	3	80	0.0375	-20	c.197 others(39): Show c.1973-2883_1973-2864delGATAGATAGATAGATAGATA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112698142	TATATGTG others(13): Show TATATGTGAAGAAGGTTGAGA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18990.hp1 NA19063.hp2 HG00673.hp1 NA18990.hp1 NA19063.hp2	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0003 a0001c0016t0001 a0001c0006t0003 a0001c0016t0001	a0001c0006t0003g0055 a0001c0006t0003g0074 a0001c0016t0001g0073 a0001c0006t0003g0055 a0001c0006t0003g0074 a0001c0016t0001g0073	3	80	0.0375	-20	c.197 others(39): Show c.1973-8112_1973-8093delTCTCAACCTTCTTCACATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112783424	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	80	0.0125	-20	c.197 others(41): Show c.1972+16718_1972+16737delTTCCTTCCTTCCTTCCTTCC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112827160	CATAAATA others(13): Show CATAAATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	80	0.0125	-20	c.185 others(39): Show c.1859+2506_1859+2525delATATATATATATATATTTAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	12/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112829885	GCACACAC others(13): Show GCACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp1 HG03041.hp2 others(2): Show HG02717.hp1 HG02922.hp1 HG03041.hp2 HG03225.hp1 NA20300.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0023 a0002c0010 a0005c0012 others(2): Show a0001c0023 a0002c0010 a0005c0012 a0005c0013 a0008c0014	a0001c0023t0001 a0002c0010t0002 a0005c0012t0001 others(2): Show a0001c0023t0001 a0002c0010t0002 a0005c0012t0001 a0005c0013t0001 a0008c0014t0005	a0001c0023t0001g0056 a0002c0010t0002g0070 a0005c0012t0001g0038 others(2): Show a0001c0023t0001g0056 a0002c0010t0002g0070 a0005c0012t0001g0038 a0005c0013t0001g0039 a0008c0014t0005g0040	5	80	0.0625	-20	c.175 others(36): Show c.1756-116_1756-97delTGTGTGTGTGTGTGTGTGTG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	11/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113112386	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 HG03041.hp1 HG02280.hp2 HG02809.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0010 a0001c0001 a0001c0007 a0002c0010	a0001c0001t0001 a0001c0007t0001 a0002c0010t0006 a0001c0001t0001 a0001c0007t0001 a0002c0010t0006	a0001c0001t0001g0016 a0001c0007t0001g0043 a0002c0010t0006g0064 a0001c0001t0001g0016 a0001c0007t0001g0043 a0002c0010t0006g0064	3	80	0.0375	-20	c.710 others(39): Show c.710-13443_710-13424delATATATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113410900	TGAAAGAA others(13): Show TGAAAGAAAGAAAGAAAGAAA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	80	0.0125	-20	c.178 others(39): Show c.178+25757_178+25776delTTTCTTTCTTTCTTTCTTTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113440978	TAGACACA others(13): Show TAGACACACACACAGACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01074.hp2 others(12): Show HG00423.hp1 HG00673.hp1 HG01074.hp2 HG01081.hp1 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG02735.hp2 HG03490.hp1 HG04115.hp2 NA18990.hp1 NA18990.hp2 NA19063.hp1 NA20300.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0014	a0001c0006 a0001c0015 a0001c0016 others(7): Show a0001c0006 a0001c0015 a0001c0016 a0001c0021 a0002c0003 a0002c0005 a0002c0011 a0002c0033 a0004c0004 a0014c0030	a0001c0006t0003 a0001c0015t0001 a0001c0016t0001 others(7): Show a0001c0006t0003 a0001c0015t0001 a0001c0016t0001 a0001c0021t0004 a0002c0003t0002 a0002c0005t0001 a0002c0011t0001 a0002c0033t0002 a0004c0004t0001 a0014c0030t0001	a0001c0006t0003g0074 a0001c0015t0001g0026 a0001c0016t0001g0073 others(12): Show a0001c0006t0003g0074 a0001c0015t0001g0026 a0001c0016t0001g0073 a0001c0021t0004g0037 a0002c0003t0002g0006 a0002c0005t0001g0027 a0002c0005t0001g0033 a0002c0005t0001g0035 a0002c0005t0001g0036 a0002c0011t0001g0001 a0002c0033t0002g0029 a0004c0004t0001g0028 a0004c0004t0001g0031 a0004c0004t0001g0034 a0014c0030t0001g0030	15	80	0.1875	-20	c.-41 others(31): Show c.-4144_-4125delGTGTGTCTGTGTGTGTGTCT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding		4040		chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542620	ATATATAT others(13): Show ATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	390	0.0026	-20	c.230 others(37): Show c.230+7435_230+7454delCATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64278408	GTGTGTGT others(13): Show GTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02976.hp1 others(2): Show HG02896.hp1 HG02897.hp2 HG02976.hp1 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0032 a0001c0001t0008 a0001c0001t0032	a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0141 others(2): Show a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0032g0140	5	176	0.0284	-20	c.182 others(39): Show c.182-19187_182-19168delTATATATATACACACACACA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64316202	AAAACAAA others(13): Show AAAACAAACAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0103 a0001c0001t0006g0103	1	176	0.0057	-20	c.-22 others(41): Show c.-224-15499_-224-15480delGTTTGTTTGTTTGTTTGTTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK1G3_chr5_123507177_123622049	123583225	ATGCATAT others(13): Show ATGCATATTATATATAGGTCT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02055.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0004 a0001c0001t0011g0004	2	294	0.0068	-20	c.674 others(37): Show c.674-4835_674-4816delTATATATAGGTCTTGCATAT	CSNK1G3	ENSG00000151292.19	transcript	ENST00000696905.1	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
CSNK2A1_chr20_467498_548790	485101	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	316	0.0032	-20	c.106 others(39): Show c.1061-1045_1061-1026delATATATATATATTTTTTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58155748	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01106.hp1 HG01358.hp2 others(6): Show HG00423.hp1 HG01106.hp1 HG01358.hp2 HG03195.hp1 HG03453.hp1 HG03704.hp2 NA18522.hp2 NA18979.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0118 a0001c0001t0001g0120 others(6): Show a0001c0001t0001g0081 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0153 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0233	9	400	0.0225	-20	c.26 others(31): Show c.2603_*2622delACACACACACACACACACAC	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding		2158		chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88446026	TTTCTTTT others(13): Show TTTCTTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01175.hp2 HG01516.hp1 others(12): Show HG01123.hp1 HG01175.hp2 HG01516.hp1 HG02647.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp2 NA18953.hp2 NA18959.hp2 NA18962.hp2 NA18982.hp1 NA18984.hp2 NA19063.hp2 NA19075.hp1 NA19240.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0011 a0021	a0001c0001 a0002c0006 a0005c0007 others(2): Show a0001c0001 a0002c0006 a0005c0007 a0011c0013 a0021c0021	a0001c0001t0001 a0001c0001t0002 a0002c0006t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0006t0001 a0002c0006t0002 a0005c0007t0002 a0011c0013t0002 a0021c0021t0002	a0001c0001t0001g0144 a0001c0001t0002g0294 a0001c0001t0002g0310 others(12): Show a0001c0001t0001g0144 a0001c0001t0002g0294 a0001c0001t0002g0310 a0001c0001t0002g0318 a0001c0001t0002g0333 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0348 a0001c0001t0002g0351 a0001c0001t0002g0363 a0002c0006t0001g0128 a0002c0006t0002g0378 a0005c0007t0002g0335 a0011c0013t0002g0334 a0021c0021t0002g0292	15	386	0.0389	-20	c.-27 others(41): Show c.-270-19059_-270-19040delCTTTTCTTTCTTTCTTTCTT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88446030	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp1 HG01978.hp2 others(11): Show HG01069.hp1 HG01167.hp1 HG01978.hp2 HG02056.hp1 HG02165.hp1 HG02257.hp1 HG02572.hp2 HG02735.hp1 HG02976.hp1 NA18961.hp1 NA18966.hp1 NA19003.hp1 NA19056.hp1 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0006c0008	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(4): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0006c0008t0001	a0001c0001t0001g0118 a0001c0004t0001g0211 a0001c0004t0001g0218 others(11): Show a0001c0001t0001g0118 a0001c0004t0001g0211 a0001c0004t0001g0218 a0001c0004t0001g0229 a0001c0004t0002g0280 a0002c0002t0001g0023 a0002c0002t0001g0152 a0003c0003t0001g0075 a0003c0003t0001g0079 a0003c0003t0001g0147 a0003c0003t0001g0165 a0003c0003t0001g0166 a0003c0003t0002g0315 a0006c0008t0001g0243	14	386	0.0363	-20	c.-27 others(41): Show c.-270-19006_-270-18987delCTTTCTTTCTTTCTTTCTTT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88457695	CAAAATAA others(13): Show CAAAATAAAATAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp2 others(48): Show HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG02027.hp1 HG02071.hp1 HG02083.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02630.hp2 HG03688.hp1 HG03704.hp1 HG03942.hp1 NA18943.hp2 NA18949.hp2 NA18950.hp1 NA18954.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18984.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA19001.hp2 NA19005.hp1 NA19009.hp2 NA19054.hp1 NA19064.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA20805.hp1	a0001 a0007 a0017 others(1): Show a0001 a0007 a0017 a0019	a0001c0001 a0001c0004 a0001c0012 others(4): Show a0001c0001 a0001c0004 a0001c0012 a0001c0017 a0007c0010 a0017c0020 a0019c0019	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0012t0001 a0001c0017t0001 a0007c0010t0002 a0017c0020t0001 a0019c0019t0001	a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 others(48): Show a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0099 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0278 a0001c0001t0002g0289 a0001c0001t0002g0330 a0001c0004t0001g0061 a0001c0012t0001g0037 a0001c0012t0001g0038 a0001c0017t0001g0226 a0007c0010t0002g0296 a0007c0010t0002g0297 a0007c0010t0002g0300 a0017c0020t0001g0196 a0019c0019t0001g0235	51	386	0.1321	-20	c.-27 others(39): Show c.-270-7352_-270-7333delAAAATAAAATAAAATAAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88470721	TATATATA others(13): Show TATATATATATACATACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00609.hp2 others(79): Show HG00280.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01943.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02602.hp1 HG02683.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp1 NA18747.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA19000.hp1 NA19003.hp2 NA19011.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp2 NA19075.hp1 NA19081.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0011 others(1): Show a0001 a0005 a0011 a0020	a0001c0001 a0005c0007 a0011c0013 others(1): Show a0001c0001 a0005c0007 a0011c0013 a0020c0018	a0001c0001t0001 a0001c0001t0002 a0005c0007t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0005c0007t0002 a0011c0013t0002 a0020c0018t0002	a0001c0001t0001g0002 a0001c0001t0001g0054 a0001c0001t0001g0089 others(78): Show a0001c0001t0001g0002 a0001c0001t0001g0054 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0181 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0002g0251 a0001c0001t0002g0262 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0328 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0001t0002g0382 a0005c0007t0002g0288 a0005c0007t0002g0306 a0005c0007t0002g0320 a0005c0007t0002g0322 a0005c0007t0002g0325 a0005c0007t0002g0335 a0011c0013t0002g0279 a0011c0013t0002g0334 a0020c0018t0002g0344	82	386	0.2124	-20	c.31 others(31): Show c.3160_*3179delATATATATATACATACACAC	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding		3128		chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88470723	TATATATA others(13): Show TATATATATACATACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0324 a0005c0007t0002g0324	1	386	0.0026	-20	c.31 others(31): Show c.3162_*3181delATATATATACATACACACAC	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding		3130		chr3	TogoVar
CSRNP2_chr12_51056205_51088596	51080127	AGCAGGCA others(13): Show AGCAGGCAGGCAGGCAGGCAG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	420	0.0024	-20	c.-87 others(37): Show c.-87+3192_-87+3211delCTGCCTGCCTGCCTGCCTGC	CSRNP2	ENSG00000110925.7	transcript	ENST00000228515.6	protein_coding	1/4			chr12	TogoVar
CSRP1_chr1_201478530_201512123	201480538	TGCGGGGC others(13): Show TGCGGGGCGGGGCGGGGCGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02922.hp2 others(3): Show HG02451.hp1 HG02559.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0053	6	432	0.0139	-20	c.41 others(31): Show c.4155_*4174delCCCGCCCCGCCCCGCCCCGC	CSRP1	ENSG00000159176.14	transcript	ENST00000340006.7	protein_coding		2991		chr1	TogoVar
CSRP2_chr12_76853709_76884019	76869529	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02559.hp2 others(3): Show HG01884.hp1 HG02109.hp1 HG02559.hp2 HG02572.hp1 HG02809.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0169 a0001c0001t0001g0319 a0001c0001t0001g0323 others(3): Show a0001c0001t0001g0169 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0001g0344 a0001c0001t0003g0026 a0001c0001t0003g0027	6	388	0.0155	-20	c.-1- others(35): Show c.-1-3288_-1-3269delGTGTGTGTGTGTGTGTGTGT	CSRP2	ENSG00000175183.10	transcript	ENST00000311083.10	protein_coding	1/5			chr12	TogoVar
CSRP3_chr11_19177030_19206983	19197337	TCTCCCTC others(13): Show TCTCCCTCCCTCCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	416	0.0024	-20	c.-29 others(37): Show c.-29+4597_-29+4616delGGAGGGAGGGAGGGAGGGAG	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar

Search by Variant

Search

Search Results