Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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	19541553	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0120 a0001c0002t0014g0120	1	238	0.0042	20	c.-29 others(41): Show c.-296-35443_-296-35424dupAAAAAAAAAAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19542200	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp2 HG02809.hp1 HG02886.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0094 a0003c0005t0004g0184 a0003c0005t0004g0094 a0003c0005t0004g0184	2	238	0.0084	20	c.-29 others(41): Show c.-296-36090_-296-36071dupGTGTGTGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19553620	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00738.hp1 others(12): Show HG00438.hp2 HG00597.hp1 HG00738.hp1 HG01099.hp1 HG01884.hp1 HG02523.hp2 HG02622.hp2 HG02647.hp1 HG02976.hp2 HG03486.hp1 HG03834.hp2 NA18942.hp1 NA18953.hp1 NA18977.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0008 a0002c0012 a0003c0005 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0005 a0002c0003t0003 a0002c0003t0005 a0002c0004t0003 a0002c0008t0003 a0002c0012t0042 a0003c0005t0004 a0005c0011t0003	a0001c0001t0001g0210 a0001c0001t0001g0226 a0001c0001t0002g0205 others(12): Show a0001c0001t0001g0210 a0001c0001t0001g0226 a0001c0001t0002g0205 a0001c0001t0005g0187 a0001c0001t0010g0122 a0001c0002t0005g0075 a0002c0003t0003g0099 a0002c0003t0003g0127 a0002c0003t0005g0093 a0002c0004t0003g0020 a0002c0008t0003g0140 a0002c0012t0042g0091 a0003c0005t0004g0007 a0005c0011t0003g0180 a0005c0011t0003g0181	15	238	0.0630	20	c.-29 others(41): Show c.-296-47491_-296-47490insATATATATATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19553622	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0097 a0001c0002t0043g0097	1	238	0.0042	20	c.-29 others(41): Show c.-296-47493_-296-47492insGTATATATATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19577401	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0047 a0001c0002t0006g0047	1	238	0.0042	20	c.-29 others(41): Show c.-297+24369_-297+24370insTTTTTTTTTTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599472	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03942.hp1 NA18968.hp2 others(1): Show HG01192.hp2 HG03942.hp1 NA18968.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0001c0006t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0006t0002 a0002c0003t0009	a0001c0001t0001g0151 a0001c0002t0002g0008 a0001c0006t0002g0135 others(1): Show a0001c0001t0001g0151 a0001c0002t0002g0008 a0001c0006t0002g0135 a0002c0003t0009g0072	4	238	0.0168	20	c.-29 others(39): Show c.-297+2279_-297+2298dupCTTTCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19612946	G G	GGAAAAAA others(13): Show GGAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0027 a0003c0005t0027	a0003c0005t0027g0229 a0003c0005t0027g0229	1	238	0.0042	20	c.-39 others(41): Show c.-391-11082_-391-11081insTTTTTTTTTTTTTTTTTTTC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666760	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0186 a0001c0002t0044g0186	1	238	0.0042	20	c.-39 others(41): Show c.-391-64915_-391-64896dupTCTTTCTTTCTTTCTTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666809	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	238	0.0042	20	c.-39 others(41): Show c.-391-64945_-391-64944insCTCTCTCTCTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667000	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	238	0.0042	20	c.-39 others(41): Show c.-391-65136_-391-65135insCCTTCCTTCCTTCCTTCCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667032	G G	GAAAGAAA others(13): Show GAAAGAAAGAAAGGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp1 NA18906.hp2 HG02559.hp1 HG02717.hp1 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0011 a0002c0003t0045 a0002c0003t0005 a0002c0003t0011 a0002c0003t0045	a0002c0003t0005g0113 a0002c0003t0011g0092 a0002c0003t0045g0090 a0002c0003t0005g0113 a0002c0003t0011g0092 a0002c0003t0045g0090	3	238	0.0126	20	c.-39 others(41): Show c.-391-65168_-391-65167insTTCTTTTCCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667040	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0043 a0002c0003t0005g0043	1	238	0.0042	20	c.-39 others(41): Show c.-391-65176_-391-65175insTCTTTCTTTCTTCCTTCCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667040	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	238	0.0042	20	c.-39 others(41): Show c.-391-65176_-391-65175insTCTTTCTTCCTTCCTTCCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667040	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	238	0.0042	20	c.-39 others(41): Show c.-391-65176_-391-65175insTCTTCCTTCCTTCCTTCCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSH1_chr17_63889918_63901574	63898144	T T	TTCTTTCT others(13): Show TTCTTTCTTTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	20	c.-16 others(31): Show c.-1634_-1633insGAGAGAGAGAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1571		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898168	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	20	c.-16 others(31): Show c.-1658_-1657insAAGAAAGAAAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1595		chr17	TogoVar
CSHL1_chr17_63904608_63916258	63912829	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0043 a0001c0003t0010g0043	1	438	0.0023	20	c.-16 others(31): Show c.-1634_-1633insAAGAGAAAGAAAGAAAGAAA	CSHL1	ENSG00000204414.14	transcript	ENST00000309894.6	protein_coding		1572		chr17	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TCTTTTTT others(13): Show TCTTTTTTTTTTTTTTTTGTG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0105 a0001c0003t0001g0105	1	394	0.0025	20	c.-66 others(37): Show c.-66+3293_-66+3294insCTTTTTTTTTTTTTTTTGTG	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12			chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TCTTTTTT others(13): Show TCTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0110	1	394	0.0025	20	c.-66 others(37): Show c.-66+3293_-66+3294insCTTTTTTTTTTTTTTTTTTG	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12			chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTGT others(13): Show TTTTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	394	0.0025	20	c.-66 others(37): Show c.-66+3294_-66+3295insTTTTGTGTGTGTGTGTGTGT	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(13): Show TTTTTTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0145 a0002c0006t0001g0145	1	394	0.0025	20	c.-66 others(37): Show c.-66+3294_-66+3295insTTTTTTGTGTGTGTGTGTGT	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(13): Show TTTTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp1 HG03139.hp2 HG03209.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0146 a0002c0006t0001g0147 a0002c0006t0001g0146 a0002c0006t0001g0147	2	394	0.0051	20	c.-66 others(37): Show c.-66+3294_-66+3295insTTTTTTTTGTGTGTGTGTGT	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(13): Show TTTTTTTTTTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0178 a0006c0009t0001g0178	1	394	0.0025	20	c.-66 others(37): Show c.-66+3294_-66+3295insTTTTTTTTTTGTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	2960939	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp1 HG02622.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0030 a0001c0002 a0002c0030	a0001c0002t0028 a0002c0030t0016 a0001c0002t0028 a0002c0030t0016	a0001c0002t0028g0005 a0002c0030t0016g0122 a0001c0002t0028g0005 a0002c0030t0016g0122	2	126	0.0159	20	c.970 others(37): Show c.9702+182_9702+201dupATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	62/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	2960961	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp1 HG03130.hp1 HG03225.hp1	a0001 a0001	a0001c0017 a0001c0026 a0001c0017 a0001c0026	a0001c0017t0005 a0001c0026t0006 a0001c0017t0005 a0001c0026t0006	a0001c0017t0005g0003 a0001c0026t0006g0093 a0001c0017t0005g0003 a0001c0026t0006g0093	2	126	0.0159	20	c.970 others(37): Show c.9702+179_9702+180insGTATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	62/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3127898	T T	TGAAGGAA others(13): Show TGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp2 HG01261.hp2 others(5): Show HG01074.hp1 HG01255.hp2 HG01261.hp2 HG02615.hp2 HG02622.hp2 HG03098.hp1 HG03669.hp2 NA19240.hp1	a0001 a0012 a0015 others(1): Show a0001 a0012 a0015 a0020	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0049 a0001c0085 a0012c0011 a0015c0063 a0020c0112	a0001c0001t0039 a0001c0002t0028 a0001c0004t0063 others(5): Show a0001c0001t0039 a0001c0002t0028 a0001c0004t0063 a0001c0049t0002 a0001c0085t0020 a0012c0011t0065 a0015c0063t0010 a0020c0112t0081	a0001c0001t0039g0017 a0001c0002t0028g0005 a0001c0004t0063g0095 others(5): Show a0001c0001t0039g0017 a0001c0002t0028g0005 a0001c0004t0063g0095 a0001c0049t0002g0071 a0001c0085t0020g0060 a0012c0011t0065g0101 a0015c0063t0010g0045 a0020c0112t0081g0090	8	126	0.0635	20	c.624 others(39): Show c.6242-9331_6242-9312dupCTTCCTTCCTTCCTTCCTTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	41/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0003 a0001c0033t0003	a0001c0033t0003g0059 a0001c0033t0003g0059	1	126	0.0079	20	c.591 others(39): Show c.5914+2518_5914+2537dupAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGGGTG others(13): Show GGGGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0060 a0001c0006t0060	a0001c0006t0060g0103 a0001c0006t0060g0103	1	126	0.0079	20	c.562 others(39): Show c.5621-1628_5621-1627insACACACACACACACACCCCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(13): Show GGGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02922.hp1 others(2): Show HG02257.hp2 HG02280.hp2 HG02922.hp1 HG04204.hp1 NA19240.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0022 a0034	a0001c0045 a0002c0075 a0004c0034 others(2): Show a0001c0045 a0002c0075 a0004c0034 a0022c0062 a0034c0055	a0001c0045t0012 a0002c0075t0026 a0004c0034t0030 others(2): Show a0001c0045t0012 a0002c0075t0026 a0004c0034t0030 a0022c0062t0056 a0034c0055t0034	a0001c0045t0012g0010 a0002c0075t0026g0051 a0004c0034t0030g0038 others(2): Show a0001c0045t0012g0010 a0002c0075t0026g0051 a0004c0034t0030g0038 a0022c0062t0056g0062 a0034c0055t0034g0047	5	126	0.0397	20	c.562 others(39): Show c.5621-1628_5621-1627insACACACACACACACACACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0094 a0001c0094	a0001c0094t0002 a0001c0094t0002	a0001c0094t0002g0110 a0001c0094t0002g0110	1	126	0.0079	20	c.562 others(39): Show c.5621-1647_5621-1628dupACACACACACACACACACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3331237	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0063 a0001c0004t0063	a0001c0004t0063g0095 a0001c0004t0063g0095	1	126	0.0079	20	c.363 others(41): Show c.3631+12056_3631+12057insTTTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3382507	T T	TTATATAT others(13): Show TTATATATATATAAATTTATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0005 a0005	a0005c0107 a0005c0107	a0005c0107t0068 a0005c0107t0068	a0005c0107t0068g0073 a0005c0107t0068g0073	1	126	0.0079	20	c.278 others(39): Show c.2782+4967_2782+4986dupTATAAATTTATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	18/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411711	T T	TGTATATA others(13): Show TGTATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0058 a0004c0058	a0004c0058t0057 a0004c0058t0057	a0004c0058t0057g0117 a0004c0058t0057g0117	1	126	0.0079	20	c.156 others(39): Show c.1562-2107_1562-2106insGTATATATATGTATATATAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3412052	A A	ATATGTAT others(13): Show ATATGTATACGTGTATACGTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0039 a0039	a0039c0010 a0039c0010	a0039c0010t0070 a0039c0010t0070	a0039c0010t0070g0084 a0039c0010t0070g0084	1	126	0.0079	20	c.156 others(39): Show c.1562-2448_1562-2447insCACGTATACACGTATACATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0017 a0001c0001t0039g0017	1	126	0.0079	20	c.156 others(41): Show c.1561+29402_1561+29403insAAAATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520019	C C	CATATATA others(13): Show CATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0028 a0028	a0028c0044 a0028c0044	a0028c0044t0064 a0028c0044t0064	a0028c0044t0064g0085 a0028c0044t0064g0085	1	126	0.0079	20	c.134 others(41): Show c.1345-26294_1345-26293insATATATATATATGTATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520020	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0058 a0004c0058	a0004c0058t0057 a0004c0058t0057	a0004c0058t0057g0117 a0004c0058t0057g0117	1	126	0.0079	20	c.134 others(41): Show c.1345-26314_1345-26295dupTATATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520039	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03516.hp2 HG02647.hp2 HG03516.hp2	a0002 a0030 a0002 a0030	a0002c0084 a0030c0106 a0002c0084 a0030c0106	a0002c0084t0018 a0030c0106t0012 a0002c0084t0018 a0030c0106t0012	a0002c0084t0018g0087 a0030c0106t0012g0042 a0002c0084t0018g0087 a0030c0106t0012g0042	2	126	0.0159	20	c.134 others(41): Show c.1345-26314_1345-26313insGTATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3523790	T T	TGCACACA others(13): Show TGCACACACATGCACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02280.hp2 others(7): Show HG01884.hp2 HG02055.hp2 HG02280.hp2 HG02572.hp1 HG02647.hp2 HG03098.hp2 HG03516.hp2 HG06807.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0018 a0027 a0030 a0039	a0001c0111 a0002c0022 a0002c0035 others(7): Show a0001c0111 a0002c0022 a0002c0035 a0002c0084 a0004c0034 a0004c0057 a0018c0042 a0027c0110 a0030c0106 a0039c0010	a0001c0111t0045 a0002c0022t0036 a0002c0035t0047 others(7): Show a0001c0111t0045 a0002c0022t0036 a0002c0035t0047 a0002c0084t0018 a0004c0034t0030 a0004c0057t0080 a0018c0042t0004 a0027c0110t0074 a0030c0106t0012 a0039c0010t0070	a0001c0111t0045g0063 a0002c0022t0036g0048 a0002c0035t0047g0076 others(7): Show a0001c0111t0045g0063 a0002c0022t0036g0048 a0002c0035t0047g0076 a0002c0084t0018g0087 a0004c0034t0030g0038 a0004c0057t0080g0075 a0018c0042t0004g0004 a0027c0110t0074g0082 a0030c0106t0012g0042 a0039c0010t0070g0084	10	126	0.0794	20	c.134 others(41): Show c.1345-30065_1345-30064insGTGTGTGTGCATGTGTGTGC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3556391	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02683.hp2 HG03834.hp1 others(1): Show HG01123.hp2 HG02683.hp2 HG03834.hp1 HG06807.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0035 a0002c0037 others(1): Show a0001c0003 a0002c0035 a0002c0037 a0003c0087	a0001c0003t0008 a0002c0035t0047 a0002c0037t0009 others(1): Show a0001c0003t0008 a0002c0035t0047 a0002c0037t0009 a0003c0087t0001	a0001c0003t0008g0053 a0002c0035t0047g0076 a0002c0037t0009g0046 others(1): Show a0001c0003t0008g0053 a0002c0035t0047g0076 a0002c0037t0009g0046 a0003c0087t0001g0022	4	126	0.0318	20	c.134 others(41): Show c.1344+18553_1344+18554insTATATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3565199	C C	CAGATAGA others(13): Show CAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0031 a0001c0043t0031	a0001c0043t0031g0044 a0001c0043t0031g0044	1	126	0.0079	20	c.134 others(39): Show c.1344+9745_1344+9746insATCTATCTATCTATCTATCT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3643700	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18971.hp2 NA18982.hp2 HG02074.hp2 NA18971.hp2 NA18982.hp2	a0001 a0002 a0036 a0001 a0002 a0036	a0001c0005 a0002c0091 a0036c0095 a0001c0005 a0002c0091 a0036c0095	a0001c0005t0002 a0002c0091t0002 a0036c0095t0002 a0001c0005t0002 a0002c0091t0002 a0036c0095t0002	a0001c0005t0002g0111 a0002c0091t0002g0114 a0036c0095t0002g0124 a0001c0005t0002g0111 a0002c0091t0002g0114 a0036c0095t0002g0124	3	126	0.0238	20	c.101 others(41): Show c.1010-26923_1010-26904dupTTTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3695087	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02074.hp2 HG02559.hp2 others(1): Show HG00423.hp1 HG02074.hp2 HG02559.hp2 NA18906.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0043 a0002c0091 a0006c0067 others(1): Show a0001c0043 a0002c0091 a0006c0067 a0010c0096	a0001c0043t0031 a0002c0091t0002 a0006c0067t0059 others(1): Show a0001c0043t0031 a0002c0091t0002 a0006c0067t0059 a0010c0096t0067	a0001c0043t0031g0044 a0002c0091t0002g0114 a0006c0067t0059g0079 others(1): Show a0001c0043t0031g0044 a0002c0091t0002g0114 a0006c0067t0059g0079 a0010c0096t0067g0116	4	126	0.0318	20	c.100 others(41): Show c.1009+13307_1009+13326dupACACACACACACACACACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3720620	T T	TTCACACA others(13): Show TTCACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0022 a0002c0053t0022	a0002c0053t0022g0041 a0002c0053t0022g0041	1	126	0.0079	20	c.932 others(39): Show c.932-12130_932-12129insGTGTGTGTGTGTGTGTGTGA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3720620	T T	TTCTCACA others(13): Show TTCTCACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03516.hp1 HG03139.hp1 HG03516.hp1	a0002 a0004 a0002 a0004	a0002c0074 a0004c0014 a0002c0074 a0004c0014	a0002c0074t0041 a0004c0014t0055 a0002c0074t0041 a0004c0014t0055	a0002c0074t0041g0031 a0004c0014t0055g0056 a0002c0074t0041g0031 a0004c0014t0055g0056	2	126	0.0159	20	c.932 others(39): Show c.932-12130_932-12129insGTGTGTGTGTGTGTGTGAGA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3776807	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01071.hp1 others(7): Show HG00438.hp1 HG00438.hp2 HG01071.hp1 HG02559.hp1 HG02647.hp1 HG02922.hp1 HG03130.hp1 HG06807.hp2 NA18522.hp2 NA18983.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0022	a0001c0004 a0001c0026 a0001c0061 others(7): Show a0001c0004 a0001c0026 a0001c0061 a0001c0068 a0001c0081 a0001c0094 a0002c0041 a0002c0072 a0004c0058 a0022c0062	a0001c0004t0020 a0001c0026t0006 a0001c0061t0001 others(7): Show a0001c0004t0020 a0001c0026t0006 a0001c0061t0001 a0001c0068t0015 a0001c0081t0037 a0001c0094t0002 a0002c0041t0027 a0002c0072t0003 a0004c0058t0057 a0022c0062t0056	a0001c0004t0020g0086 a0001c0026t0006g0093 a0001c0061t0001g0021 others(7): Show a0001c0004t0020g0086 a0001c0026t0006g0093 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0081t0037g0030 a0001c0094t0002g0110 a0002c0041t0027g0018 a0002c0072t0003g0066 a0004c0058t0057g0117 a0022c0062t0056g0062	10	126	0.0794	20	c.819 others(39): Show c.819-22766_819-22765insATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3893345	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0031 a0031	a0031c0113 a0031c0113	a0031c0113t0011 a0031c0113t0011	a0031c0113t0011g0043 a0031c0113t0011g0043	1	126	0.0079	20	c.818 others(41): Show c.818+104557_818+104558insCATATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3982197	A A	AATAATAA others(13): Show AATAATAATAATAATATTAAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0090 a0001c0090	a0001c0090t0001 a0001c0090t0001	a0001c0090t0001g0027 a0001c0090t0001g0027	1	126	0.0079	20	c.818 others(39): Show c.818+15705_818+15706insATTAATATTATTATTATTAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4387570	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp1 HG02886.hp1 HG02922.hp1	a0001 a0022 a0001 a0022	a0001c0039 a0022c0062 a0001c0039 a0022c0062	a0001c0039t0066 a0022c0062t0056 a0001c0039t0066 a0022c0062t0056	a0001c0039t0066g0080 a0022c0062t0056g0062 a0001c0039t0066g0080 a0022c0062t0056g0062	2	126	0.0159	20	c.415 others(39): Show c.415+32363_415+32382dupTTTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4390497	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp1 HG01071.hp2 others(30): Show HG00438.hp2 HG00735.hp1 HG01071.hp2 HG01081.hp1 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03209.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA20129.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0007 a0008 a0011 a0013 a0021 a0024 a0025 a0026 a0031 a0032 a0034 a0036	a0001c0001 a0001c0003 a0001c0004 others(30): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0026 a0001c0039 a0001c0047 a0001c0059 a0001c0061 a0001c0081 a0001c0111 a0002c0015 a0002c0036 a0002c0060 a0002c0070 a0002c0072 a0002c0077 a0002c0078 a0002c0084 a0003c0087 a0004c0014 a0007c0083 a0008c0029 a0011c0016 a0013c0018 a0021c0038 a0024c0052 a0025c0066 a0026c0100 a0031c0113 a0032c0024 a0034c0055 a0036c0095	a0001c0001t0002 a0001c0003t0013 a0001c0004t0020 others(30): Show a0001c0001t0002 a0001c0003t0013 a0001c0004t0020 a0001c0006t0060 a0001c0026t0006 a0001c0039t0066 a0001c0047t0014 a0001c0059t0001 a0001c0061t0001 a0001c0081t0037 a0001c0111t0045 a0002c0015t0021 a0002c0036t0029 a0002c0060t0006 a0002c0070t0046 a0002c0072t0003 a0002c0077t0001 a0002c0078t0044 a0002c0084t0018 a0003c0087t0001 a0004c0014t0055 a0007c0083t0004 a0008c0029t0011 a0011c0016t0048 a0013c0018t0058 a0021c0038t0075 a0024c0052t0049 a0025c0066t0010 a0026c0100t0017 a0031c0113t0011 a0032c0024t0077 a0034c0055t0034 a0036c0095t0002	a0001c0001t0002g0125 a0001c0003t0013g0026 a0001c0004t0020g0086 others(30): Show a0001c0001t0002g0125 a0001c0003t0013g0026 a0001c0004t0020g0086 a0001c0006t0060g0103 a0001c0026t0006g0093 a0001c0039t0066g0080 a0001c0047t0014g0024 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0081t0037g0030 a0001c0111t0045g0063 a0002c0015t0021g0008 a0002c0036t0029g0009 a0002c0060t0006g0094 a0002c0070t0046g0092 a0002c0072t0003g0066 a0002c0077t0001g0016 a0002c0078t0044g0064 a0002c0084t0018g0087 a0003c0087t0001g0022 a0004c0014t0055g0056 a0007c0083t0004g0006 a0008c0029t0011g0054 a0011c0016t0048g0106 a0013c0018t0058g0068 a0021c0038t0075g0067 a0024c0052t0049g0098 a0025c0066t0010g0032 a0026c0100t0017g0121 a0031c0113t0011g0043 a0032c0024t0077g0104 a0034c0055t0034g0047 a0036c0095t0002g0124	33	126	0.2619	20	c.415 others(39): Show c.415+29436_415+29455dupTAAATAAATAAATAAATAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar

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