Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CSGALNACT1_chr8_19399161_19762277	19667032	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0094 a0003c0005t0004g0094	1	207	0.0048	24	c.-39 others(45): Show c.-391-65168_-391-65167insTTCTTTTCCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667040	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0050 a0001c0002t0005g0050	1	152	0.0066	24	c.-39 others(45): Show c.-391-65176_-391-65175insTTCTTTTCCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667040	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0177 a0001c0002t0011g0177	1	152	0.0066	24	c.-39 others(45): Show c.-391-65176_-391-65175insTCTTTCTTCCTTCCTTCCTTCCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667040	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	152	0.0066	24	c.-39 others(45): Show c.-391-65176_-391-65175insTCTTCCTTCCTTCCTTCCTTCCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSH1_chr17_63889918_63901574	63898164	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	291	0.0034	24	c.-16 others(35): Show c.-1654_-1653insAAGAAAGAAAGAAAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1591		chr17	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02015.hp1 HG02523.hp1 others(4): Show HG00544.hp2 HG02015.hp1 HG02523.hp1 NA18747.hp2 NA18943.hp1 NA18985.hp2 NA19009.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0014 a0001c0005t0005g0058 a0001c0005t0005g0059 a0001c0005t0005g0014 a0001c0005t0005g0058 a0001c0005t0005g0059	7	170	0.0412	24	c.-66 others(41): Show c.-66+3294_-66+3295insTTTTTTTTTTTTGTGTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0061 a0001c0005t0005g0061	1	164	0.0061	24	c.-66 others(41): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTGTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTTTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	164	0.0061	24	c.-66 others(41): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	2960951	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0052 a0001c0050t0052	a0001c0050t0052g0120 a0001c0050t0052g0120	1	126	0.0079	24	c.970 others(41): Show c.9702+189_9702+190insGTATATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	62/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3056731	C C	CTTTAATA others(17): Show CTTTAATATAAAGTATTCATATAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02572.hp1 others(7): Show HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp1 NA19030.hp2	a0001 a0004 a0018 others(1): Show a0001 a0004 a0018 a0038	a0001c0002 a0001c0020 a0001c0025 others(7): Show a0001c0002 a0001c0020 a0001c0025 a0001c0033 a0001c0043 a0001c0114 a0004c0014 a0004c0058 a0018c0042 a0038c0104	a0001c0002t0026 a0001c0020t0018 a0001c0025t0003 others(7): Show a0001c0002t0026 a0001c0020t0018 a0001c0025t0003 a0001c0033t0003 a0001c0043t0031 a0001c0114t0003 a0004c0014t0055 a0004c0058t0056 a0018c0042t0004 a0038c0104t0069	a0001c0002t0026g0005 a0001c0020t0018g0065 a0001c0025t0003g0077 others(7): Show a0001c0002t0026g0005 a0001c0020t0018g0065 a0001c0025t0003g0077 a0001c0033t0003g0059 a0001c0043t0031g0044 a0001c0114t0003g0119 a0004c0014t0055g0056 a0004c0058t0056g0117 a0018c0042t0004g0004 a0038c0104t0069g0058	10	126	0.0794	24	c.747 others(43): Show c.7475-4085_7475-4084insTTTATATGAATACTTTATATTAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3127898	T T	TGAAGGAA others(17): Show TGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG02257.hp1 others(7): Show HG01884.hp2 HG01934.hp1 HG02257.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03209.hp1 NA18906.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0008 others(3): Show a0001 a0002 a0008 a0024 a0025 a0039	a0001c0003 a0001c0020 a0001c0026 others(7): Show a0001c0003 a0001c0020 a0001c0026 a0001c0045 a0002c0022 a0002c0032 a0008c0088 a0024c0052 a0025c0066 a0039c0010	a0001c0003t0019 a0001c0020t0018 a0001c0026t0007 others(7): Show a0001c0003t0019 a0001c0020t0018 a0001c0026t0007 a0001c0045t0014 a0002c0022t0035 a0002c0032t0053 a0008c0088t0076 a0024c0052t0049 a0025c0066t0010 a0039c0010t0068	a0001c0003t0019g0107 a0001c0020t0018g0065 a0001c0026t0007g0093 others(7): Show a0001c0003t0019g0107 a0001c0020t0018g0065 a0001c0026t0007g0093 a0001c0045t0014g0010 a0002c0022t0035g0048 a0002c0032t0053g0061 a0008c0088t0076g0057 a0024c0052t0049g0098 a0025c0066t0010g0032 a0039c0010t0068g0084	10	95	0.1053	24	c.624 others(43): Show c.6242-9335_6242-9312dupCTTCCTTCCTTCCTTCCTTCCTTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	41/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19240.hp1 HG01243.hp2 NA19240.hp1	a0001 a0014 a0001 a0014	a0001c0085 a0014c0098 a0001c0085 a0014c0098	a0001c0085t0020 a0014c0098t0027 a0001c0085t0020 a0014c0098t0027	a0001c0085t0020g0060 a0014c0098t0027g0019 a0001c0085t0020g0060 a0014c0098t0027g0019	2	7	0.2857	24	c.591 others(43): Show c.5914+2514_5914+2537dupAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(17): Show GGGGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01081.hp1 HG01884.hp2 others(4): Show HG00438.hp2 HG01081.hp1 HG01884.hp2 HG03017.hp2 NA18983.hp2 NA19030.hp1 NA20129.hp2	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0026	a0001c0019 a0001c0081 a0001c0105 others(4): Show a0001c0019 a0001c0081 a0001c0105 a0001c0111 a0002c0022 a0013c0018 a0026c0100	a0001c0019t0078 a0001c0081t0036 a0001c0105t0001 others(4): Show a0001c0019t0078 a0001c0081t0036 a0001c0105t0001 a0001c0111t0045 a0002c0022t0035 a0013c0018t0058 a0026c0100t0016	a0001c0019t0078g0105 a0001c0081t0036g0030 a0001c0105t0001g0029 others(4): Show a0001c0019t0078g0105 a0001c0081t0036g0030 a0001c0105t0001g0029 a0001c0111t0045g0063 a0002c0022t0035g0048 a0013c0018t0058g0068 a0026c0100t0016g0121	7	15	0.4667	24	c.562 others(43): Show c.5621-1628_5621-1627insACACACACACACACACACACACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3331237	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG03225.hp1 HG01884.hp2 HG02723.hp2 HG03225.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0017 a0002c0022 a0005c0065 a0001c0017 a0002c0022 a0005c0065	a0001c0017t0005 a0002c0022t0035 a0005c0065t0023 a0001c0017t0005 a0002c0022t0035 a0005c0065t0023	a0001c0017t0005g0003 a0002c0022t0035g0048 a0005c0065t0023g0050 a0001c0017t0005g0003 a0002c0022t0035g0048 a0005c0065t0023g0050	3	38	0.0789	24	c.363 others(45): Show c.3631+12056_3631+12057insTTTTTTTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3382507	T T	TTATATAT others(17): Show TTATATATATATAAATTTATATAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01071.hp1 others(45): Show HG00099.hp2 HG00735.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01884.hp2 HG02056.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18979.hp1 NA18984.hp1 NA18995.hp1 NA19030.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0011 a0012 a0013 a0015 a0016 a0022 a0029 a0030 a0031 a0032 a0033 a0035 a0039	a0001c0001 a0001c0002 a0001c0004 others(40): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0025 a0001c0033 a0001c0039 a0001c0059 a0001c0068 a0001c0108 a0001c0109 a0001c0111 a0001c0114 a0002c0012 a0002c0015 a0002c0022 a0002c0032 a0002c0036 a0002c0037 a0002c0041 a0002c0060 a0003c0087 a0004c0014 a0004c0034 a0005c0064 a0005c0065 a0011c0016 a0012c0011 a0013c0018 a0015c0063 a0016c0028 a0022c0062 a0029c0027 a0030c0106 a0031c0113 a0032c0024 a0033c0013 a0035c0023 a0039c0010	a0001c0001t0002 a0001c0001t0038 a0001c0002t0002 others(44): Show a0001c0001t0002 a0001c0001t0038 a0001c0002t0002 a0001c0002t0026 a0001c0002t0061 a0001c0004t0020 a0001c0004t0063 a0001c0005t0006 a0001c0017t0005 a0001c0019t0078 a0001c0020t0018 a0001c0021t0005 a0001c0025t0003 a0001c0033t0003 a0001c0039t0064 a0001c0059t0001 a0001c0068t0015 a0001c0108t0054 a0001c0109t0037 a0001c0111t0045 a0001c0114t0003 a0002c0012t0016 a0002c0015t0021 a0002c0022t0035 a0002c0032t0053 a0002c0036t0030 a0002c0037t0009 a0002c0041t0025 a0002c0060t0007 a0003c0087t0001 a0004c0014t0055 a0004c0034t0029 a0005c0064t0050 a0005c0065t0023 a0011c0016t0048 a0012c0011t0072 a0013c0018t0058 a0015c0063t0010 a0016c0028t0024 a0022c0062t0057 a0029c0027t0003 a0030c0106t0014 a0031c0113t0013 a0032c0024t0077 a0033c0013t0006 a0035c0023t0001 a0039c0010t0068	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0038g0017 others(45): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0038g0017 a0001c0002t0002g0083 a0001c0002t0026g0005 a0001c0002t0061g0069 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0005t0006g0070 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0020t0018g0065 a0001c0021t0005g0012 a0001c0025t0003g0077 a0001c0033t0003g0059 a0001c0039t0064g0080 a0001c0059t0001g0036 a0001c0068t0015g0049 a0001c0108t0054g0074 a0001c0109t0037g0013 a0001c0111t0045g0063 a0001c0114t0003g0119 a0002c0012t0016g0088 a0002c0015t0021g0008 a0002c0022t0035g0048 a0002c0032t0053g0061 a0002c0036t0030g0009 a0002c0037t0009g0046 a0002c0041t0025g0018 a0002c0060t0007g0094 a0003c0087t0001g0022 a0004c0014t0055g0056 a0004c0034t0029g0038 a0005c0064t0050g0078 a0005c0065t0023g0050 a0011c0016t0048g0106 a0012c0011t0072g0101 a0013c0018t0058g0068 a0015c0063t0010g0045 a0016c0028t0024g0040 a0022c0062t0057g0062 a0029c0027t0003g0099 a0030c0106t0014g0042 a0031c0113t0013g0043 a0032c0024t0077g0104 a0033c0013t0006g0112 a0035c0023t0001g0052 a0039c0010t0068g0084	48	124	0.3871	24	c.278 others(43): Show c.2782+4963_2782+4986dupTTTATATAAATTTATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	18/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411834	G G	GCACGTAT others(17): Show GCACGTATATATGCACGTATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp2 HG02922.hp1 others(2): Show HG02486.hp1 HG02886.hp2 HG02922.hp1 HG06807.hp2 NA19240.hp1	a0001 a0002 a0017 others(1): Show a0001 a0002 a0017 a0022	a0001c0068 a0001c0085 a0002c0078 others(2): Show a0001c0068 a0001c0085 a0002c0078 a0017c0101 a0022c0062	a0001c0068t0015 a0001c0085t0020 a0002c0078t0044 others(2): Show a0001c0068t0015 a0001c0085t0020 a0002c0078t0044 a0017c0101t0008 a0022c0062t0057	a0001c0068t0015g0049 a0001c0085t0020g0060 a0002c0078t0044g0064 others(2): Show a0001c0068t0015g0049 a0001c0085t0020g0060 a0002c0078t0044g0064 a0017c0101t0008g0023 a0022c0062t0057g0062	5	120	0.0417	24	c.156 others(43): Show c.1562-2230_1562-2229insTATATATACGTGCATATATACGTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0115 a0001c0115	a0001c0115t0042 a0001c0115t0042	a0001c0115t0042g0055 a0001c0115t0042g0055	1	45	0.0222	24	c.156 others(45): Show c.1561+29402_1561+29403insAATATATATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0021 a0002c0015t0021	a0002c0015t0021g0008 a0002c0015t0021g0008	1	45	0.0222	24	c.156 others(45): Show c.1561+29402_1561+29403insAAAATATATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3443639	A A	AATATCAA others(17): Show AATATCAAAGTATGCAAATCTTTGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0026 a0026	a0026c0100 a0026c0100	a0026c0100t0016 a0026c0100t0016	a0026c0100t0016g0121 a0026c0100t0016g0121	1	126	0.0079	24	c.156 others(45): Show c.1561+25049_1561+25072dupACAAAGATTTGCATACTTTGATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520019	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0035 a0035	a0035c0023 a0035c0023	a0035c0023t0001 a0035c0023t0001	a0035c0023t0001g0052 a0035c0023t0001g0052	1	122	0.0082	24	c.134 others(45): Show c.1345-26294_1345-26293insATATATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520020	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20129.hp1 HG02280.hp2 NA20129.hp1	a0004 a0039 a0004 a0039	a0004c0034 a0039c0010 a0004c0034 a0039c0010	a0004c0034t0029 a0039c0010t0068 a0004c0034t0029 a0039c0010t0068	a0004c0034t0029g0038 a0039c0010t0068g0084 a0004c0034t0029g0038 a0039c0010t0068g0084	2	76	0.0263	24	c.134 others(45): Show c.1345-26295_1345-26294insTATATATATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3556391	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18982.hp2 NA19060.hp1 others(1): Show NA18979.hp1 NA18982.hp2 NA19060.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0007 a0001c0090 others(1): Show a0001c0005 a0001c0007 a0001c0090 a0002c0036	a0001c0005t0002 a0001c0007t0001 a0001c0090t0001 others(1): Show a0001c0005t0002 a0001c0007t0001 a0001c0090t0001 a0002c0036t0030	a0001c0005t0002g0111 a0001c0007t0001g0035 a0001c0090t0001g0027 others(1): Show a0001c0005t0002g0111 a0001c0007t0001g0035 a0001c0090t0001g0027 a0002c0036t0030g0009	4	100	0.0400	24	c.134 others(45): Show c.1344+18553_1344+18554insTATATATATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3562415	C C	CACACACA others(17): Show CACACACACACGTACACACATGCAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp2 HG01123.hp1 others(44): Show HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01255.hp1 HG01261.hp2 HG01884.hp1 HG01934.hp1 HG02129.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18971.hp1 NA18995.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19074.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0015 a0017 a0020 a0022 a0023 a0025 a0027 a0029 a0032 a0035 a0037 a0038 a0039	a0001c0002 a0001c0003 a0001c0004 others(43): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0017 a0001c0026 a0001c0033 a0001c0039 a0001c0040 a0001c0045 a0001c0046 a0001c0047 a0001c0050 a0001c0085 a0002c0030 a0002c0031 a0002c0032 a0002c0048 a0002c0053 a0002c0054 a0002c0072 a0002c0074 a0002c0075 a0002c0076 a0002c0077 a0003c0087 a0004c0014 a0004c0058 a0005c0065 a0005c0107 a0006c0008 a0006c0067 a0015c0063 a0017c0101 a0020c0112 a0022c0062 a0023c0069 a0025c0066 a0027c0110 a0029c0027 a0032c0024 a0035c0023 a0037c0009 a0038c0104 a0039c0010	a0001c0002t0026 a0001c0003t0008 a0001c0003t0019 others(44): Show a0001c0002t0026 a0001c0003t0008 a0001c0003t0019 a0001c0004t0063 a0001c0006t0060 a0001c0007t0032 a0001c0017t0005 a0001c0026t0007 a0001c0033t0003 a0001c0039t0064 a0001c0040t0019 a0001c0045t0014 a0001c0046t0073 a0001c0047t0012 a0001c0050t0052 a0001c0085t0020 a0002c0030t0018 a0002c0031t0015 a0002c0032t0053 a0002c0048t0011 a0002c0053t0022 a0002c0054t0079 a0002c0072t0003 a0002c0074t0040 a0002c0075t0028 a0002c0076t0039 a0002c0077t0001 a0003c0087t0001 a0004c0014t0055 a0004c0058t0056 a0005c0065t0023 a0005c0107t0066 a0006c0008t0082 a0006c0067t0059 a0015c0063t0010 a0017c0101t0008 a0020c0112t0081 a0022c0062t0057 a0023c0069t0043 a0025c0066t0010 a0027c0110t0074 a0029c0027t0003 a0032c0024t0077 a0035c0023t0001 a0037c0009t0001 a0038c0104t0069 a0039c0010t0068	a0001c0002t0026g0005 a0001c0003t0008g0053 a0001c0003t0019g0107 others(44): Show a0001c0002t0026g0005 a0001c0003t0008g0053 a0001c0003t0019g0107 a0001c0004t0063g0095 a0001c0006t0060g0103 a0001c0007t0032g0033 a0001c0017t0005g0003 a0001c0026t0007g0093 a0001c0033t0003g0059 a0001c0039t0064g0080 a0001c0040t0019g0123 a0001c0045t0014g0010 a0001c0046t0073g0091 a0001c0047t0012g0024 a0001c0050t0052g0120 a0001c0085t0020g0060 a0002c0030t0018g0122 a0002c0031t0015g0001 a0002c0032t0053g0061 a0002c0048t0011g0015 a0002c0053t0022g0041 a0002c0054t0079g0096 a0002c0072t0003g0066 a0002c0074t0040g0031 a0002c0075t0028g0051 a0002c0076t0039g0014 a0002c0077t0001g0016 a0003c0087t0001g0022 a0004c0014t0055g0056 a0004c0058t0056g0117 a0005c0065t0023g0050 a0005c0107t0066g0073 a0006c0008t0082g0126 a0006c0067t0059g0079 a0015c0063t0010g0045 a0017c0101t0008g0023 a0020c0112t0081g0090 a0022c0062t0057g0062 a0023c0069t0043g0100 a0025c0066t0010g0032 a0027c0110t0074g0082 a0029c0027t0003g0099 a0032c0024t0077g0104 a0035c0023t0001g0052 a0037c0009t0001g0002 a0038c0104t0069g0058 a0039c0010t0068g0084	47	126	0.3730	24	c.134 others(45): Show c.1344+12529_1344+12530insATGCATGTGTGTACGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02129.hp1 HG02886.hp2 others(2): Show HG02055.hp1 HG02129.hp1 HG02886.hp2 HG03669.hp2 HG06807.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0103 a0002c0035 others(2): Show a0001c0001 a0001c0103 a0002c0035 a0002c0078 a0007c0083	a0001c0001t0038 a0001c0103t0033 a0002c0035t0047 others(2): Show a0001c0001t0038 a0001c0103t0033 a0002c0035t0047 a0002c0078t0044 a0007c0083t0004	a0001c0001t0038g0017 a0001c0103t0033g0028 a0002c0035t0047g0076 others(2): Show a0001c0001t0038g0017 a0001c0103t0033g0028 a0002c0035t0047g0076 a0002c0078t0044g0064 a0007c0083t0004g0006	5	41	0.1220	24	c.932 others(41): Show c.932-1213_932-1190dupAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3776807	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03579.hp1 HG03540.hp2 HG03579.hp1	a0007 a0031 a0007 a0031	a0007c0116 a0031c0113 a0007c0116 a0031c0113	a0007c0116t0004 a0031c0113t0013 a0007c0116t0004 a0031c0113t0013	a0007c0116t0004g0039 a0031c0113t0013g0043 a0007c0116t0004g0039 a0031c0113t0013g0043	2	86	0.0233	24	c.819 others(43): Show c.819-22766_819-22765insATATATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3893339	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG01123.hp1 others(8): Show HG00099.hp1 HG00423.hp1 HG01123.hp1 HG01123.hp2 HG02647.hp2 HG02922.hp1 HG03130.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03834.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0009 a0010 a0022 a0032	a0001c0003 a0001c0006 a0001c0026 others(8): Show a0001c0003 a0001c0006 a0001c0026 a0002c0084 a0003c0087 a0004c0014 a0006c0008 a0009c0097 a0010c0096 a0022c0062 a0032c0024	a0001c0003t0008 a0001c0006t0002 a0001c0026t0007 others(8): Show a0001c0003t0008 a0001c0006t0002 a0001c0026t0007 a0002c0084t0017 a0003c0087t0001 a0004c0014t0055 a0006c0008t0082 a0009c0097t0017 a0010c0096t0065 a0022c0062t0057 a0032c0024t0077	a0001c0003t0008g0053 a0001c0006t0002g0109 a0001c0026t0007g0093 others(8): Show a0001c0003t0008g0053 a0001c0006t0002g0109 a0001c0026t0007g0093 a0002c0084t0017g0087 a0003c0087t0001g0022 a0004c0014t0055g0056 a0006c0008t0082g0126 a0009c0097t0017g0089 a0010c0096t0065g0116 a0022c0062t0057g0062 a0032c0024t0077g0104	11	19	0.5789	24	c.818 others(45): Show c.818+104563_818+104564insTATATATATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258401	G G	GGGAGGGA others(17): Show GGGAGGGAGGGAGGGGAGGATGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00735.hp1 others(25): Show HG00099.hp1 HG00423.hp2 HG00735.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01261.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02683.hp1 HG03209.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18971.hp2 NA18982.hp1 NA19043.hp2 NA19074.hp1 NA20129.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0008 a0009 a0011 a0012 a0013 a0015 a0036 a0039	a0001c0001 a0001c0003 a0001c0006 others(23): Show a0001c0001 a0001c0003 a0001c0006 a0001c0020 a0001c0021 a0001c0047 a0001c0050 a0001c0071 a0002c0012 a0002c0051 a0002c0053 a0002c0076 a0002c0089 a0002c0091 a0003c0056 a0003c0086 a0003c0087 a0004c0057 a0008c0088 a0009c0097 a0011c0016 a0012c0011 a0013c0018 a0015c0063 a0036c0095 a0039c0010	a0001c0001t0002 a0001c0001t0038 a0001c0003t0008 others(24): Show a0001c0001t0002 a0001c0001t0038 a0001c0003t0008 a0001c0006t0002 a0001c0020t0018 a0001c0021t0005 a0001c0047t0012 a0001c0050t0052 a0001c0071t0067 a0002c0012t0016 a0002c0051t0007 a0002c0053t0022 a0002c0076t0039 a0002c0089t0001 a0002c0091t0002 a0003c0056t0062 a0003c0086t0002 a0003c0087t0001 a0004c0057t0080 a0008c0088t0076 a0009c0097t0017 a0011c0016t0048 a0012c0011t0072 a0013c0018t0058 a0015c0063t0010 a0036c0095t0002 a0039c0010t0068	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0038g0017 others(25): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0038g0017 a0001c0003t0008g0053 a0001c0006t0002g0109 a0001c0020t0018g0065 a0001c0021t0005g0012 a0001c0047t0012g0024 a0001c0050t0052g0120 a0001c0071t0067g0115 a0002c0012t0016g0088 a0002c0051t0007g0081 a0002c0053t0022g0041 a0002c0076t0039g0014 a0002c0089t0001g0037 a0002c0091t0002g0114 a0003c0056t0062g0072 a0003c0086t0002g0118 a0003c0087t0001g0022 a0004c0057t0080g0075 a0008c0088t0076g0057 a0009c0097t0017g0089 a0011c0016t0048g0106 a0012c0011t0072g0101 a0013c0018t0058g0068 a0015c0063t0010g0045 a0036c0095t0002g0124 a0039c0010t0068g0084	28	126	0.2222	24	c.415 others(45): Show c.415+161551_415+161552insTTCCATCCTCCCCTCCCTCCCTCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258405	G G	GGGAGGGA others(17): Show GGGAGGGAGGGGAGGATGGAAGGAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0015 a0002c0031t0015	a0002c0031t0015g0001 a0002c0031t0015g0001	1	126	0.0079	24	c.415 others(45): Show c.415+161547_415+161548insGTCCTTCCATCCTCCCCTCCCTCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4312427	A A	ATATATAT others(17): Show ATATATATATGCGTATATATATACG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0051 a0002c0051	a0002c0051t0007 a0002c0051t0007	a0002c0051t0007g0081 a0002c0051t0007g0081	1	126	0.0079	24	c.415 others(45): Show c.415+107502_415+107525dupCGTATATATATACGCATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4312467	A A	ATATATAT others(17): Show ATATATATACGTATATATATGCGCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02965.hp2 others(4): Show HG02257.hp1 HG02559.hp2 HG02965.hp2 HG03139.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0025	a0001c0043 a0001c0085 a0002c0032 others(4): Show a0001c0043 a0001c0085 a0002c0032 a0002c0072 a0002c0074 a0008c0088 a0025c0066	a0001c0043t0031 a0001c0085t0020 a0002c0032t0053 others(4): Show a0001c0043t0031 a0001c0085t0020 a0002c0032t0053 a0002c0072t0003 a0002c0074t0040 a0008c0088t0076 a0025c0066t0010	a0001c0043t0031g0044 a0001c0085t0020g0060 a0002c0032t0053g0061 others(4): Show a0001c0043t0031g0044 a0001c0085t0020g0060 a0002c0032t0053g0061 a0002c0072t0003g0066 a0002c0074t0040g0031 a0008c0088t0076g0057 a0025c0066t0010g0032	7	126	0.0556	24	c.415 others(45): Show c.415+107485_415+107486insCGCGCATATATATACGTATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4390497	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01934.hp1 HG01081.hp2 HG01934.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0107 a0001c0003 a0005c0107	a0001c0003t0019 a0005c0107t0066 a0001c0003t0019 a0005c0107t0066	a0001c0003t0019g0107 a0005c0107t0066g0073 a0001c0003t0019g0107 a0005c0107t0066g0073	2	24	0.0833	24	c.415 others(43): Show c.415+29432_415+29455dupTAAATAAATAAATAAATAAATAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4390497	T T	TTTTTTTT others(17): Show TTTTTTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0080 a0001c0080	a0001c0080t0041 a0001c0080t0041	a0001c0080t0041g0025 a0001c0080t0041g0025	1	23	0.0435	24	c.415 others(43): Show c.415+29455_415+29456insTAAATAAATAAATAAATAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4441095	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03130.hp2 NA18983.hp1 HG02056.hp1 HG03130.hp2 NA18983.hp1	a0001 a0028 a0001 a0028	a0001c0002 a0001c0061 a0028c0044 a0001c0002 a0001c0061 a0028c0044	a0001c0002t0002 a0001c0061t0001 a0028c0044t0071 a0001c0002t0002 a0001c0061t0001 a0028c0044t0071	a0001c0002t0002g0083 a0001c0061t0001g0021 a0028c0044t0071g0085 a0001c0002t0002g0083 a0001c0061t0001g0021 a0028c0044t0071g0085	3	34	0.0882	24	c.303 others(43): Show c.303-21031_303-21030insAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4717310	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG03209.hp2 others(1): Show HG02451.hp1 HG03195.hp1 HG03209.hp2 HG03516.hp2	a0002 a0030 a0002 a0030	a0002c0051 a0002c0054 a0002c0060 others(1): Show a0002c0051 a0002c0054 a0002c0060 a0030c0106	a0002c0051t0007 a0002c0054t0079 a0002c0060t0007 others(1): Show a0002c0051t0007 a0002c0054t0079 a0002c0060t0007 a0030c0106t0014	a0002c0051t0007g0081 a0002c0054t0079g0096 a0002c0060t0007g0094 others(1): Show a0002c0051t0007g0081 a0002c0054t0079g0096 a0002c0060t0007g0094 a0030c0106t0014g0042	4	63	0.0635	24	c.86- others(41): Show c.86-79753_86-79752insATATATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4738903	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0038 a0038	a0038c0104 a0038c0104	a0038c0104t0069 a0038c0104t0069	a0038c0104t0069g0058 a0038c0104t0069g0058	1	42	0.0238	24	c.86- others(43): Show c.86-101346_86-101345insCACACACACACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4764885	A A	AACAAAAA others(17): Show AACAAAAAAAAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG04204.hp1 HG02129.hp2 HG04204.hp1	a0001 a0034 a0001 a0034	a0001c0007 a0034c0055 a0001c0007 a0034c0055	a0001c0007t0032 a0034c0055t0034 a0001c0007t0032 a0034c0055t0034	a0001c0007t0032g0033 a0034c0055t0034g0047 a0001c0007t0032g0033 a0034c0055t0034g0047	2	105	0.0190	24	c.86- others(43): Show c.86-127328_86-127327insGTTTTGTTTTGTTTTTTTTTTTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4993389	T T	TCTGTCTC others(17): Show TCTGTCTCTCTCCCTCTTTCTCGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01074.hp2 others(9): Show HG00099.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01934.hp1 HG02055.hp2 HG03017.hp1 HG06807.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0011 a0013 a0015	a0001c0002 a0001c0003 a0001c0005 others(9): Show a0001c0002 a0001c0003 a0001c0005 a0001c0049 a0001c0108 a0002c0035 a0003c0056 a0004c0057 a0005c0107 a0011c0016 a0013c0018 a0015c0063	a0001c0002t0061 a0001c0003t0019 a0001c0005t0006 others(9): Show a0001c0002t0061 a0001c0003t0019 a0001c0005t0006 a0001c0049t0002 a0001c0108t0054 a0002c0035t0047 a0003c0056t0062 a0004c0057t0080 a0005c0107t0066 a0011c0016t0048 a0013c0018t0058 a0015c0063t0010	a0001c0002t0061g0069 a0001c0003t0019g0107 a0001c0005t0006g0070 others(9): Show a0001c0002t0061g0069 a0001c0003t0019g0107 a0001c0005t0006g0070 a0001c0049t0002g0071 a0001c0108t0054g0074 a0002c0035t0047g0076 a0003c0056t0062g0072 a0004c0057t0080g0075 a0005c0107t0066g0073 a0011c0016t0048g0106 a0013c0018t0058g0068 a0015c0063t0010g0045	12	126	0.0952	24	c.85+ others(37): Show c.85+919_85+942dupGGCGAGAAAGAGGGAGAGAGACAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33708591	C C	CTTATTAT others(17): Show CTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp1 NA19043.hp2 HG02055.hp2 HG03139.hp1 NA19043.hp2	a0003 a0005 a0006 a0003 a0005 a0006	a0003c0050 a0005c0012 a0006c0016 a0003c0050 a0005c0012 a0006c0016	a0003c0050t0004 a0005c0012t0001 a0006c0016t0004 a0003c0050t0004 a0005c0012t0001 a0006c0016t0004	a0003c0050t0004g0037 a0005c0012t0001g0003 a0006c0016t0004g0034 a0003c0050t0004g0037 a0005c0012t0001g0003 a0006c0016t0004g0034	3	5	0.6000	24	c.357 others(41): Show c.3576+474_3576+497dupTAATAATAATAATAATAATAATAA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	22/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34076928	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0024 a0024	a0024c0018 a0024c0018	a0024c0018t0001 a0024c0018t0001	a0024c0018t0001g0048 a0024c0018t0001g0048	1	38	0.0263	24	c.404 others(43): Show c.404+12048_404+12049insATATTTTTTTTTTTTTTTTTTTTT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34076928	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0026 a0026	a0026c0052 a0026c0052	a0026c0052t0003 a0026c0052t0003	a0026c0052t0003g0040 a0026c0052t0003g0040	1	38	0.0263	24	c.404 others(43): Show c.404+12048_404+12049insATATATATTTTTTTTTTTTTTTTT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD3_chr8_112217928_113441939	112370082	A A	AAGAAGAA others(17): Show AAGAAGAAGAAGAAGAAGAAGAAGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	52	0.0192	24	c.613 others(45): Show c.6136+10269_6136+10270insACTTCTTCTTCTTCTTCTTCTTCT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112405234	T T	TATGTATA others(17): Show TATGTATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA20300.hp2 HG02055.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0023 a0002c0032 a0001c0023 a0002c0032	a0001c0023t0001 a0002c0032t0001 a0001c0023t0001 a0002c0032t0001	a0001c0023t0001g0055 a0002c0032t0001g0079 a0001c0023t0001g0055 a0002c0032t0001g0079	2	74	0.0270	24	c.580 others(43): Show c.5809+1289_5809+1290insGTATATATATATATATATATACAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	35/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112564339	C C	CTTCTCCC others(17): Show CTTCTCCCCTCCCTTCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp1 HG03225.hp1 HG03516.hp1	a0016 a0017 a0016 a0017	a0016c0014 a0017c0026 a0016c0014 a0017c0026	a0016c0014t0005 a0017c0026t0001 a0016c0014t0005 a0017c0026t0001	a0016c0014t0005g0040 a0017c0026t0001g0056 a0016c0014t0005g0040 a0017c0026t0001g0056	2	78	0.0256	24	c.404 others(43): Show c.4043-7386_4043-7385insAGGAGGGGAGAAGGGAGGGGAGAA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	24/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112783412	A A	AGGAGGGA others(17): Show AGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18990.hp1 HG00673.hp1 NA18990.hp1	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0003 a0001c0016t0001 a0001c0006t0003 a0001c0016t0001	a0001c0006t0003g0074 a0001c0016t0001g0073 a0001c0006t0003g0074 a0001c0016t0001g0073	2	69	0.0290	24	c.197 others(45): Show c.1972+16749_1972+16750insCTCCCTCCCTCCCTCCCTCCCTCC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112783424	G G	GGGAGGGA others(17): Show GGGAGGGAGGGAGGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0005 a0016c0014t0005	a0016c0014t0005g0040 a0016c0014t0005g0040	1	23	0.0435	24	c.197 others(45): Show c.1972+16737_1972+16738insTTCCCTCCCTCCCTCCCTCCCTCC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113315628	A A	AATATATA others(17): Show AATATATATCAAATGTATATTAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03225.hp2 HG03688.hp2 others(3): Show HG01109.hp1 HG03225.hp2 HG03688.hp2 HG04115.hp2 NA18944.hp1 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0007 a0001c0021 others(2): Show a0001c0001 a0001c0007 a0001c0021 a0002c0003 a0006c0009	a0001c0001t0002 a0001c0007t0001 a0001c0021t0004 others(3): Show a0001c0001t0002 a0001c0007t0001 a0001c0021t0004 a0002c0003t0002 a0002c0003t0006 a0006c0009t0001	a0001c0001t0002g0014 a0001c0007t0001g0012 a0001c0021t0004g0037 others(3): Show a0001c0001t0002g0014 a0001c0007t0001g0012 a0001c0021t0004g0037 a0002c0003t0002g0051 a0002c0003t0006g0061 a0006c0009t0001g0069	6	78	0.0769	24	c.179 others(39): Show c.179-859_179-836dupATTTAATATACATTTGATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149490985	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	262	0.0038	24	c.58 others(35): Show c.5867_*5868insTATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding		1996		chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544735	C C	CTATATAT others(17): Show CTATATATATATATACATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0379 a0001c0001t0002g0379	1	326	0.0031	24	c.230 others(41): Show c.230+5339_230+5340insTATATATATGTATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544735	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18906.hp2 NA18939.hp1 others(1): Show NA18522.hp2 NA18906.hp2 NA18939.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 others(1): Show a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0004g0172	4	329	0.0122	24	c.230 others(41): Show c.230+5339_230+5340insTATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544737	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01074.hp2 HG01175.hp1 others(7): Show HG00280.hp1 HG01074.hp2 HG01175.hp1 HG01175.hp2 HG01515.hp1 HG02109.hp1 HG02165.hp2 HG02717.hp2 HG02809.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010	a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 others(7): Show a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0220 a0001c0001t0003g0226 a0001c0001t0008g0128 a0001c0001t0008g0129 a0001c0001t0008g0130 a0001c0001t0010g0126 a0001c0001t0010g0127	10	116	0.0862	24	c.230 others(41): Show c.230+5314_230+5337dupTATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar

Search by Variant

Search

Search Results