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	chr	external
CSMD1_chr8_2930361_4999914	3182898	A A	ATTGTTAG others(11): Show ATTGTTAGTAGAGAAGGGG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0026 a0001c0003t0013g0026	1	126	0.0079	18	c.562 others(37): Show c.5621-1702_5621-1685dupCCCCTTCTCTACTAACAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3315437	A A	AGTATGTG others(11): Show AGTATGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0050 a0002c0032t0050	a0002c0032t0050g0061 a0002c0032t0050g0061	1	126	0.0079	18	c.363 others(37): Show c.3632-6935_3632-6934insACACACACACACACATAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3315437	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03579.hp1 NA18906.hp2 others(1): Show HG02055.hp2 HG03579.hp1 NA18906.hp2 NA20129.hp1	a0004 a0006 a0007 others(1): Show a0004 a0006 a0007 a0039	a0004c0057 a0006c0067 a0007c0116 others(1): Show a0004c0057 a0006c0067 a0007c0116 a0039c0010	a0004c0057t0080 a0006c0067t0059 a0007c0116t0004 others(1): Show a0004c0057t0080 a0006c0067t0059 a0007c0116t0004 a0039c0010t0070	a0004c0057t0080g0075 a0006c0067t0059g0079 a0007c0116t0004g0039 others(1): Show a0004c0057t0080g0075 a0006c0067t0059g0079 a0007c0116t0004g0039 a0039c0010t0070g0084	4	126	0.0318	18	c.363 others(37): Show c.3632-6952_3632-6935dupACACACACACACACACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3315460	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0032 a0001c0007t0032	a0001c0007t0032g0033 a0001c0007t0032g0033	1	126	0.0079	18	c.363 others(37): Show c.3632-6958_3632-6957insAACACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3412199	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0024 a0016c0028t0024	a0016c0028t0024g0040 a0016c0028t0024g0040	1	126	0.0079	18	c.156 others(37): Show c.1562-2595_1562-2594insGTGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439122	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp1 HG02559.hp1 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0014 a0001c0004 a0004c0014	a0001c0004t0020 a0004c0014t0055 a0001c0004t0020 a0004c0014t0055	a0001c0004t0020g0086 a0004c0014t0055g0056 a0001c0004t0020g0086 a0004c0014t0055g0056	2	126	0.0159	18	c.156 others(39): Show c.1562-29535_1562-29518dupTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439281	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0006 a0006	a0006c0067 a0006c0067	a0006c0067t0059 a0006c0067t0059	a0006c0067t0059g0079 a0006c0067t0059g0079	1	126	0.0079	18	c.156 others(39): Show c.1561+29430_1561+29431insTATATATATATATACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0051 a0002c0051	a0002c0051t0006 a0002c0051t0006	a0002c0051t0006g0081 a0002c0051t0006g0081	1	126	0.0079	18	c.156 others(39): Show c.1561+29402_1561+29403insAATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3488086	G G	GTATTATT others(11): Show GTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp1 NA18906.hp1 others(1): Show HG02559.hp2 HG03209.hp1 NA18906.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0020 a0001c0043 a0001c0050 others(1): Show a0001c0020 a0001c0043 a0001c0050 a0002c0032	a0001c0020t0016 a0001c0043t0031 a0001c0050t0053 others(1): Show a0001c0020t0016 a0001c0043t0031 a0001c0050t0053 a0002c0032t0050	a0001c0020t0016g0065 a0001c0043t0031g0044 a0001c0050t0053g0120 others(1): Show a0001c0020t0016g0065 a0001c0043t0031g0044 a0001c0050t0053g0120 a0002c0032t0050g0061	4	126	0.0318	18	c.144 others(37): Show c.1448+5519_1448+5536dupATAATAATAATAATAATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	11/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520019	C C	CATATATA others(11): Show CATATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0020 a0020	a0020c0112 a0020c0112	a0020c0112t0081 a0020c0112t0081	a0020c0112t0081g0090 a0020c0112t0081g0090	1	126	0.0079	18	c.134 others(39): Show c.1345-26294_1345-26293insATATATATATGTATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520020	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19043.hp1 HG02615.hp2 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0093 a0001c0004 a0001c0093	a0001c0004t0063 a0001c0093t0009 a0001c0004t0063 a0001c0093t0009	a0001c0004t0063g0095 a0001c0093t0009g0007 a0001c0004t0063g0095 a0001c0093t0009g0007	2	126	0.0159	18	c.134 others(39): Show c.1345-26312_1345-26295dupTATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520039	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp1 HG02572.hp1 HG02922.hp1	a0018 a0022 a0018 a0022	a0018c0042 a0022c0062 a0018c0042 a0022c0062	a0018c0042t0004 a0022c0062t0056 a0018c0042t0004 a0022c0062t0056	a0018c0042t0004g0004 a0022c0062t0056g0062 a0018c0042t0004g0004 a0022c0062t0056g0062	2	126	0.0159	18	c.134 others(39): Show c.1345-26314_1345-26313insGTATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3556391	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01934.hp1 HG02257.hp2 others(3): Show HG01261.hp2 HG01934.hp1 HG02257.hp2 NA18983.hp2 NA18984.hp2 NA19090.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0003 a0001c0102 a0001c0105 others(2): Show a0001c0003 a0001c0102 a0001c0105 a0002c0075 a0015c0063	a0001c0003t0013 a0001c0003t0019 a0001c0102t0005 others(3): Show a0001c0003t0013 a0001c0003t0019 a0001c0102t0005 a0001c0105t0001 a0002c0075t0026 a0015c0063t0010	a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0102t0005g0034 others(3): Show a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0102t0005g0034 a0001c0105t0001g0029 a0002c0075t0026g0051 a0015c0063t0010g0045	6	126	0.0476	18	c.134 others(39): Show c.1344+18553_1344+18554insTATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3564517	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp1 HG02683.hp2 others(1): Show HG01255.hp2 HG02257.hp1 HG02683.hp2 NA19240.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0045 a0001c0049 a0002c0037 others(1): Show a0001c0045 a0001c0049 a0002c0037 a0008c0088	a0001c0045t0012 a0001c0049t0002 a0002c0037t0009 others(1): Show a0001c0045t0012 a0001c0049t0002 a0002c0037t0009 a0008c0088t0076	a0001c0045t0012g0010 a0001c0049t0002g0071 a0002c0037t0009g0046 others(1): Show a0001c0045t0012g0010 a0001c0049t0002g0071 a0002c0037t0009g0046 a0008c0088t0076g0057	4	126	0.0318	18	c.134 others(39): Show c.1344+10410_1344+10427dupCACACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3643700	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0031 a0031	a0031c0113 a0031c0113	a0031c0113t0011 a0031c0113t0011	a0031c0113t0011g0043 a0031c0113t0011g0043	1	126	0.0079	18	c.101 others(39): Show c.1010-26921_1010-26904dupTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3644966	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03195.hp1 HG02055.hp2 HG03195.hp1	a0002 a0004 a0002 a0004	a0002c0054 a0004c0057 a0002c0054 a0004c0057	a0002c0054t0079 a0004c0057t0080 a0002c0054t0079 a0004c0057t0080	a0002c0054t0079g0096 a0004c0057t0080g0075 a0002c0054t0079g0096 a0004c0057t0080g0075	2	126	0.0159	18	c.101 others(39): Show c.1010-28187_1010-28170dupTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3695087	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG02451.hp2 others(12): Show HG00735.hp2 HG01081.hp1 HG02451.hp2 HG02559.hp1 HG02683.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03669.hp1 HG04228.hp2 NA18906.hp1 NA18971.hp1 NA18995.hp1 NA19060.hp2	a0001 a0002 a0013 others(3): Show a0001 a0002 a0013 a0016 a0025 a0029	a0001c0002 a0001c0004 a0001c0006 others(12): Show a0001c0002 a0001c0004 a0001c0006 a0001c0021 a0001c0026 a0001c0073 a0001c0109 a0002c0012 a0002c0032 a0002c0048 a0002c0077 a0013c0018 a0016c0028 a0025c0066 a0029c0027	a0001c0002t0061 a0001c0004t0020 a0001c0006t0002 others(12): Show a0001c0002t0061 a0001c0004t0020 a0001c0006t0002 a0001c0021t0005 a0001c0026t0006 a0001c0073t0007 a0001c0109t0038 a0002c0012t0017 a0002c0032t0050 a0002c0048t0013 a0002c0077t0001 a0013c0018t0058 a0016c0028t0024 a0025c0066t0010 a0029c0027t0003	a0001c0002t0061g0069 a0001c0004t0020g0086 a0001c0006t0002g0109 others(12): Show a0001c0002t0061g0069 a0001c0004t0020g0086 a0001c0006t0002g0109 a0001c0021t0005g0012 a0001c0026t0006g0093 a0001c0073t0007g0108 a0001c0109t0038g0013 a0002c0012t0017g0088 a0002c0032t0050g0061 a0002c0048t0013g0015 a0002c0077t0001g0016 a0013c0018t0058g0068 a0016c0028t0024g0040 a0025c0066t0010g0032 a0029c0027t0003g0099	15	126	0.1191	18	c.100 others(39): Show c.1009+13309_1009+13326dupACACACACACACACACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG04204.hp2 NA18995.hp2 HG01243.hp2 HG04204.hp2 NA18995.hp2	a0001 a0014 a0037 a0001 a0014 a0037	a0001c0001 a0014c0098 a0037c0009 a0001c0001 a0014c0098 a0037c0009	a0001c0001t0002 a0014c0098t0025 a0037c0009t0001 a0001c0001t0002 a0014c0098t0025 a0037c0009t0001	a0001c0001t0002g0102 a0014c0098t0025g0019 a0037c0009t0001g0002 a0001c0001t0002g0102 a0014c0098t0025g0019 a0037c0009t0001g0002	3	126	0.0238	18	c.932 others(35): Show c.932-1207_932-1190dupAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3714561	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02559.hp1 others(1): Show HG01884.hp1 HG02257.hp1 HG02559.hp1 NA18995.hp2	a0001 a0008 a0037 a0001 a0008 a0037	a0001c0004 a0001c0046 a0008c0088 others(1): Show a0001c0004 a0001c0046 a0008c0088 a0037c0009	a0001c0004t0020 a0001c0046t0073 a0008c0088t0076 others(1): Show a0001c0004t0020 a0001c0046t0073 a0008c0088t0076 a0037c0009t0001	a0001c0004t0020g0086 a0001c0046t0073g0091 a0008c0088t0076g0057 others(1): Show a0001c0004t0020g0086 a0001c0046t0073g0091 a0008c0088t0076g0057 a0037c0009t0001g0002	4	126	0.0318	18	c.932 others(35): Show c.932-6088_932-6071dupTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3720620	T T	TTCACACA others(11): Show TTCACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02451.hp2 others(1): Show HG01884.hp2 HG02258.hp2 HG02451.hp2 HG03195.hp2	a0001 a0002 a0016 others(1): Show a0001 a0002 a0016 a0029	a0001c0115 a0002c0022 a0016c0028 others(1): Show a0001c0115 a0002c0022 a0016c0028 a0029c0027	a0001c0115t0042 a0002c0022t0036 a0016c0028t0024 others(1): Show a0001c0115t0042 a0002c0022t0036 a0016c0028t0024 a0029c0027t0003	a0001c0115t0042g0055 a0002c0022t0036g0048 a0016c0028t0024g0040 others(1): Show a0001c0115t0042g0055 a0002c0022t0036g0048 a0016c0028t0024g0040 a0029c0027t0003g0099	4	126	0.0318	18	c.932 others(37): Show c.932-12130_932-12129insGTGTGTGTGTGTGTGTGA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3720620	T T	TTCTCACA others(11): Show TTCTCACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03540.hp1 NA19240.hp2 HG01081.hp2 HG03540.hp1 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0045 a0002c0015 a0005c0107 a0001c0045 a0002c0015 a0005c0107	a0001c0045t0012 a0002c0015t0021 a0005c0107t0068 a0001c0045t0012 a0002c0015t0021 a0005c0107t0068	a0001c0045t0012g0010 a0002c0015t0021g0008 a0005c0107t0068g0073 a0001c0045t0012g0010 a0002c0015t0021g0008 a0005c0107t0068g0073	3	126	0.0238	18	c.932 others(37): Show c.932-12130_932-12129insGTGTGTGTGTGTGTGAGA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3893339	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03209.hp1 HG01261.hp1 HG03209.hp1	a0001 a0001	a0001c0020 a0001c0108 a0001c0020 a0001c0108	a0001c0020t0016 a0001c0108t0054 a0001c0020t0016 a0001c0108t0054	a0001c0020t0016g0065 a0001c0108t0054g0074 a0001c0020t0016g0065 a0001c0108t0054g0074	2	126	0.0159	18	c.818 others(39): Show c.818+104546_818+104563dupTATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4042815	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0003 a0003	a0003c0056 a0003c0056	a0003c0056t0062 a0003c0056t0062	a0003c0056t0062g0072 a0003c0056t0062g0072	1	126	0.0079	18	c.416 others(37): Show c.416-10734_416-10717dupTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4212751	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG03139.hp1 HG01884.hp2 HG02451.hp2 HG03139.hp1	a0002 a0016 a0002 a0016	a0002c0022 a0002c0074 a0016c0028 a0002c0022 a0002c0074 a0016c0028	a0002c0022t0036 a0002c0074t0041 a0016c0028t0024 a0002c0022t0036 a0002c0074t0041 a0016c0028t0024	a0002c0022t0036g0048 a0002c0074t0041g0031 a0016c0028t0024g0040 a0002c0022t0036g0048 a0002c0074t0041g0031 a0016c0028t0024g0040	3	126	0.0238	18	c.416 others(39): Show c.416-180670_416-180653dupAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4441095	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01884.hp2 others(8): Show HG01081.hp1 HG01081.hp2 HG01884.hp2 HG02074.hp1 HG03098.hp2 HG03209.hp2 HG03540.hp2 HG03710.hp2 NA19030.hp1 NA19043.hp2 NA19090.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0013 a0027 a0031 a0033	a0001c0019 a0001c0050 a0001c0079 others(8): Show a0001c0019 a0001c0050 a0001c0079 a0001c0102 a0002c0022 a0002c0060 a0005c0107 a0013c0018 a0027c0110 a0031c0113 a0033c0013	a0001c0019t0078 a0001c0050t0053 a0001c0079t0072 others(8): Show a0001c0019t0078 a0001c0050t0053 a0001c0079t0072 a0001c0102t0005 a0002c0022t0036 a0002c0060t0006 a0005c0107t0068 a0013c0018t0058 a0027c0110t0074 a0031c0113t0011 a0033c0013t0007	a0001c0019t0078g0105 a0001c0050t0053g0120 a0001c0079t0072g0113 others(8): Show a0001c0019t0078g0105 a0001c0050t0053g0120 a0001c0079t0072g0113 a0001c0102t0005g0034 a0002c0022t0036g0048 a0002c0060t0006g0094 a0005c0107t0068g0073 a0013c0018t0058g0068 a0027c0110t0074g0082 a0031c0113t0011g0043 a0033c0013t0007g0112	11	126	0.0873	18	c.303 others(37): Show c.303-21048_303-21031dupAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4446759	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0003 a0001c0033t0003	a0001c0033t0003g0059 a0001c0033t0003g0059	1	126	0.0079	18	c.303 others(37): Show c.303-26695_303-26694insGACACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4578332	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02056.hp1 HG02886.hp2 others(2): Show HG01934.hp1 HG02056.hp1 HG02886.hp2 NA18979.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0090 others(2): Show a0001c0002 a0001c0003 a0001c0090 a0002c0036 a0002c0078	a0001c0002t0002 a0001c0003t0019 a0001c0090t0001 others(2): Show a0001c0002t0002 a0001c0003t0019 a0001c0090t0001 a0002c0036t0029 a0002c0078t0044	a0001c0002t0002g0083 a0001c0003t0019g0107 a0001c0090t0001g0027 others(2): Show a0001c0002t0002g0083 a0001c0003t0019g0107 a0001c0090t0001g0027 a0002c0036t0029g0009 a0002c0078t0044g0064	5	126	0.0397	18	c.302 others(37): Show c.302+58992_302+59009dupAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4588779	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02683.hp1 HG01934.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0021 a0001c0003 a0001c0021	a0001c0003t0019 a0001c0021t0005 a0001c0003t0019 a0001c0021t0005	a0001c0003t0019g0107 a0001c0021t0005g0012 a0001c0003t0019g0107 a0001c0021t0005g0012	2	126	0.0159	18	c.302 others(37): Show c.302+48545_302+48562dupGTGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4738895	C C	CTGCGTGT others(11): Show CTGCGTGTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG04228.hp1 HG03017.hp2 HG04228.hp1	a0001 a0026 a0001 a0026	a0001c0001 a0026c0100 a0001c0001 a0026c0100	a0001c0001t0002 a0026c0100t0017 a0001c0001t0002 a0026c0100t0017	a0001c0001t0002g0125 a0026c0100t0017g0121 a0001c0001t0002g0125 a0026c0100t0017g0121	2	126	0.0159	18	c.86- others(37): Show c.86-101338_86-101337insCACACACACAAACACGCA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4738903	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp1 HG01074.hp1 others(16): Show HG00735.hp2 HG01071.hp1 HG01074.hp1 HG01255.hp1 HG01934.hp2 HG02055.hp2 HG02257.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03669.hp1 HG03710.hp2 NA18983.hp1 NA19060.hp2 NA19090.hp2 NA20129.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0008 a0012 a0020 a0021 a0027 a0033 a0039	a0001c0002 a0001c0006 a0001c0061 others(16): Show a0001c0002 a0001c0006 a0001c0061 a0001c0073 a0002c0030 a0002c0031 a0002c0041 a0002c0048 a0002c0074 a0002c0092 a0003c0099 a0004c0057 a0008c0088 a0012c0011 a0020c0112 a0021c0038 a0027c0110 a0033c0013 a0039c0010	a0001c0002t0061 a0001c0006t0002 a0001c0061t0001 others(16): Show a0001c0002t0061 a0001c0006t0002 a0001c0061t0001 a0001c0073t0007 a0002c0030t0016 a0002c0031t0015 a0002c0041t0027 a0002c0048t0013 a0002c0074t0041 a0002c0092t0001 a0003c0099t0014 a0004c0057t0080 a0008c0088t0076 a0012c0011t0065 a0020c0112t0081 a0021c0038t0075 a0027c0110t0074 a0033c0013t0007 a0039c0010t0070	a0001c0002t0061g0069 a0001c0006t0002g0109 a0001c0061t0001g0021 others(16): Show a0001c0002t0061g0069 a0001c0006t0002g0109 a0001c0061t0001g0021 a0001c0073t0007g0108 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0041t0027g0018 a0002c0048t0013g0015 a0002c0074t0041g0031 a0002c0092t0001g0011 a0003c0099t0014g0020 a0004c0057t0080g0075 a0008c0088t0076g0057 a0012c0011t0065g0101 a0020c0112t0081g0090 a0021c0038t0075g0067 a0027c0110t0074g0082 a0033c0013t0007g0112 a0039c0010t0070g0084	19	126	0.1508	18	c.86- others(37): Show c.86-101363_86-101346dupCACACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4738915	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0003 a0001c0025t0003	a0001c0025t0003g0077 a0001c0025t0003g0077	1	126	0.0079	18	c.86- others(37): Show c.86-101358_86-101357insTACACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69		chr8	TogoVar
CSMD2_chr1_33508998_34170230	33544831	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0056 a0002c0005t0003g0056	1	66	0.0152	18	c.910 others(37): Show c.9100+1188_9100+1205dupTATATATATATATATATA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	57/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	33590595	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0007 a0018c0029t0007	a0018c0029t0007g0025 a0018c0029t0007g0025	1	66	0.0152	18	c.685 others(37): Show c.6857-3445_6857-3428dupTGTGTGTGTGTGTGTGTG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	44/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	33708591	C C	CTTATTAT others(11): Show CTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01069.hp2 HG01071.hp1 others(14): Show HG00438.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG02055.hp1 HG02723.hp1 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03453.hp1 HG03471.hp2 NA18906.hp1 NA18998.hp1 NA20805.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0009 a0012 a0016 a0021 a0025 a0028	a0001c0001 a0001c0045 a0002c0002 others(12): Show a0001c0001 a0001c0045 a0002c0002 a0003c0003 a0003c0004 a0003c0035 a0003c0037 a0004c0032 a0005c0020 a0009c0039 a0012c0019 a0016c0010 a0021c0053 a0025c0036 a0028c0056	a0001c0001t0001 a0001c0045t0013 a0002c0002t0005 others(12): Show a0001c0001t0001 a0001c0045t0013 a0002c0002t0005 a0003c0003t0002 a0003c0004t0003 a0003c0035t0006 a0003c0037t0007 a0004c0032t0001 a0005c0020t0006 a0009c0039t0014 a0012c0019t0011 a0016c0010t0017 a0021c0053t0002 a0025c0036t0002 a0028c0056t0001	a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0045t0013g0027 others(14): Show a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0045t0013g0027 a0002c0002t0005g0036 a0003c0003t0002g0009 a0003c0004t0003g0053 a0003c0004t0003g0054 a0003c0035t0006g0006 a0003c0037t0007g0038 a0004c0032t0001g0022 a0005c0020t0006g0046 a0009c0039t0014g0014 a0012c0019t0011g0017 a0016c0010t0017g0064 a0021c0053t0002g0024 a0025c0036t0002g0044 a0028c0056t0001g0047	17	66	0.2576	18	c.357 others(35): Show c.3576+480_3576+497dupTAATAATAATAATAATAA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	22/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	33888756	T T	TTTGTTGT others(11): Show TTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp1 HG06807.hp1 HG03139.hp2 HG03209.hp1 HG06807.hp1	a0002 a0004 a0026 a0002 a0004 a0026	a0002c0006 a0004c0031 a0026c0052 a0002c0006 a0004c0031 a0026c0052	a0002c0006t0004 a0004c0031t0004 a0026c0052t0003 a0002c0006t0004 a0004c0031t0004 a0026c0052t0003	a0002c0006t0004g0052 a0004c0031t0004g0005 a0026c0052t0003g0040 a0002c0006t0004g0052 a0004c0031t0004g0005 a0026c0052t0003g0040	3	66	0.0455	18	c.920 others(37): Show c.920+29320_920+29337dupCAACAACAACAACAACAA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	5/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	33950383	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0032 a0004c0032	a0004c0032t0001 a0004c0032t0001	a0004c0032t0001g0022 a0004c0032t0001g0022	1	66	0.0152	18	c.518 others(37): Show c.518-14447_518-14430dupCTCTCTCTCTCTCTCTCT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	33975486	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0032 a0004c0032	a0004c0032t0001 a0004c0032t0001	a0004c0032t0001g0022 a0004c0032t0001g0022	1	66	0.0152	18	c.518 others(37): Show c.518-39550_518-39533dupGTGTGTGTGTGTGTGTGT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	34076928	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0001 a0008c0025t0001	a0008c0025t0001g0042 a0008c0025t0001g0042	1	66	0.0152	18	c.404 others(37): Show c.404+12048_404+12049insATATATATATATATTTTT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	34135242	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0021 a0005c0015t0001g0021	1	66	0.0152	18	c.187 others(37): Show c.187+29651_187+29668dupTGTGTGTGTGTGTGTGTG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	1/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	34169596	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0006 a0005c0020t0006	a0005c0020t0006g0046 a0005c0020t0006g0046	1	66	0.0152	18	c.-45 others(29): Show c.-4517_-4500dupTCTCTCTCTCTCTCTCTC	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding		4367	chr1	TogoVar
CSMD3_chr8_112217928_113441939	112346669	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	80	0.0125	18	c.632 others(35): Show c.6326-474_6326-457dupAAAAAAAAAAAAAAAAAA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	40/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112370023	G G	GGAAGAAG others(11): Show GGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	80	0.0125	18	c.613 others(39): Show c.6136+10311_6136+10328dupTTCTTCTTCTTCTTCTTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112405246	T T	TATATATA others(11): Show TATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0003 a0002c0027t0003	a0002c0027t0003g0047 a0002c0027t0003g0047	1	80	0.0125	18	c.580 others(37): Show c.5809+1277_5809+1278insGTGTGTATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	35/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112458209	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0002 a0009c0034t0002	a0009c0034t0002g0012 a0009c0034t0002g0012	1	80	0.0125	18	c.539 others(39): Show c.5395+14381_5395+14382insTGTGTGTGTGTGTGTGTG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112458215	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp1 HG02258.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0020 a0002c0028 a0001c0020 a0002c0028	a0001c0020t0005 a0002c0028t0005 a0001c0020t0005 a0002c0028t0005	a0001c0020t0005g0065 a0002c0028t0005g0078 a0001c0020t0005g0065 a0002c0028t0005g0078	2	80	0.0250	18	c.539 others(39): Show c.5395+14375_5395+14376insTGTGTGTGTGTGTGTGTG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	32/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112747183	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0005 a0001c0020t0005	a0001c0020t0005g0065 a0001c0020t0005g0065	1	80	0.0125	18	c.197 others(39): Show c.1972+52961_1972+52978dupAAAAAAAAAAAAAAAAAA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112827160	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0033 a0002c0005t0001g0033	1	80	0.0125	18	c.185 others(37): Show c.1859+2525_1859+2526insATATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	12/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112827164	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02895.hp2 HG00673.hp1 HG02895.hp2	a0001 a0014 a0001 a0014	a0001c0006 a0014c0019 a0001c0006 a0014c0019	a0001c0006t0003 a0014c0019t0003 a0001c0006t0003 a0014c0019t0003	a0001c0006t0003g0074 a0014c0019t0003g0071 a0001c0006t0003g0074 a0014c0019t0003g0071	2	80	0.0250	18	c.185 others(37): Show c.1859+2504_1859+2521dupATATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	12/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	113378762	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0069 a0006c0009t0001g0069	1	80	0.0125	18	c.178 others(37): Show c.178+57897_178+57914dupACACACACACACACACAC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	113399106	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02257.hp2 HG02280.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0005 a0005c0008t0005	a0005c0008t0005g0005 a0005c0008t0005g0006 a0005c0008t0005g0005 a0005c0008t0005g0006	2	80	0.0250	18	c.178 others(37): Show c.178+37570_178+37571insGTGTGTGTATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70		chr8	TogoVar

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