Joint Open Genome and Omics Platform (JoGo)

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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
C7orf50_chr7_992006_1143247	1128669	A A	AATCTCGG others(179): Show AATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACAATCTC GGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	326	0.0031	186	c.-1- others(201): Show c.-1-1284_-1-1283insGGCGCCACTGCACTCCAGCCCGGGTGACGG TGGGATGAGCCGAGATCGCGCCACTGCACTCCAGCCCGGGTGACGGTGAG ATGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGGTGACAGGGTGGGAT GAGCCGAGATCGTGCCACTGCACTCCAGCCCGGGTGACGGTGGGATGAGC CGAGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(179): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTT TCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0015 a0015	a0015c0087 a0015c0087	a0015c0087t0001 a0015c0087t0001	a0015c0087t0001g0103 a0015c0087t0001g0103	1	218	0.0046	186	c.573 others(205): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(179): Show TTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTC TTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCT CTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0115 a0003c0115	a0003c0115t0006 a0003c0115t0006	a0003c0115t0006g0137 a0003c0115t0006g0137	1	218	0.0046	186	c.573 others(205): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA AAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2280643	A A	ACCTTGCT others(179): Show ACCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTT TAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGC TGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTC TTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0007 a0001c0037t0007	a0001c0037t0007g0100 a0001c0037t0007g0100	1	104	0.0096	186	c.477 others(207): Show c.477+160243_477+160244insGCCTTGCTGTGCTTCGGTTTAACC TCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGC TTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTTTAACCTCTTGAT GCCTTGCTGTGCTTCGGTTTAACCTCTTGATGCCTTGCTGTGCTTCGGTT TAACCTCTTGAT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2462271	T T	TGCGCATC others(179): Show TGCGCATCTCCTCGGCCCCCCCTTGGCTCAGCTCTCTGCACAGGCCTGCG CACCTCCTTGGCCCCCACCTCGGCTCAGCTCTCCATACAGGCCTGCGCAT CTCCTCGGCCCCCCCTTGGCTCAGCTCTCTGCACAGGCCTGCGCACCTCC TTGGCCCCCACCTCGGCTCAGCTCTCCATACAGGCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02258.hp1 HG02280.hp2	a0001 a0003 a0001 a0003	a0001c0017 a0003c0023 a0001c0017 a0003c0023	a0001c0017t0006 a0003c0023t0011 a0001c0017t0006 a0003c0023t0011	a0001c0017t0006g0006 a0003c0023t0011g0048 a0001c0017t0006g0006 a0003c0023t0011g0048	2	104	0.0192	186	c.757 others(203): Show c.757+4567_757+4568insGCATCTCCTCGGCCCCCCCTTGGCTCAG CTCTCTGCACAGGCCTGCGCACCTCCTTGGCCCCCACCTCGGCTCAGCTC TCCATACAGGCCTGCGCATCTCCTCGGCCCCCCCTTGGCTCAGCTCTCTG CACAGGCCTGCGCACCTCCTTGGCCCCCACCTCGGCTCAGCTCTCCATAC AGGCCCGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	5/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(179): Show CACACACATATATGTATGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTATGTGTATATACACACACATATATGTATGTGTA TATACACACACATATATGTATGTGTATATACACACACATATATGTATGTG TATATATACACACACATATACACACACGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18983.hp1 HG02132.hp2 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0214 a0002c0002t0003g0250 a0002c0002t0003g0214 a0002c0002t0003g0250	2	262	0.0076	186	c.218 others(201): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTATGTGTATATACAC ACACATATATGTATGTGTATATACACACACATATATGTATGTGTATATAC ACACACATATATGTATGTGTATATATACACACACATATACACACACGTGT GTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(179): Show CACACACATATATGTATGTGTATATACACACACATATATGTGTGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATACACACACATATATGTATGTG TATATATACACACACATATACACACACGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0201	1	262	0.0038	186	c.218 others(201): Show c.218+721_218+722insACACACATATATGTATGTGTATATACACAC ACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAC ACACACATATATGTATGTGTATATATACACACACATATACACACACGTGT GTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134929621	C C	CACACACA others(179): Show CACACACATATATGTGTGTGTATATACACACACATATATGTATGTGTATA TACACACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTA TATACACACACATATATGTGTGTGTATATATACACACATATATGTATGTG TATATATACACACACATATACACACACGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0206 a0002c0002t0002g0206	1	262	0.0038	186	c.218 others(201): Show c.218+721_218+722insACACACATATATGTGTGTGTATATACACAC ACATATATGTATGTGTATATACACACACATATATGTGTGTGTATATACAC ACACATATATGTGTGTGTATATACACACACATATATGTGTGTGTATATAT ACACACATATATGTATGTGTATATATACACACACATATACACACACGTGT GTGTGT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	4/14			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227084	T T	TGTGGGGG others(179): Show TGTGGGGGACACAGGAGGGTGTGGGGGACAGAGGGGGATATGGGGGACAG AGGGAGTGTAGGGGACAGAGGAGGGTGTGGGGGGCAGAGGGAGTGTGGGG GACAGAGGAGGGTCTGGAGGACAGAGGGAGAGTGTAGGGAACAGAGGGGG TGTGGGGGACAGAAGGGGGTGTGGGGGACAGAAAAGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0106 a0001c0001t0004g0106	1	242	0.0041	186	c.146 others(203): Show c.1469-441_1469-440insCCTTTTCTGTCCCCCACACCCCCTTCTG TCCCCCACACCCCCTCTGTTCCCTACACTCTCCCTCTGTCCTCCAGACCC TCCTCTGTCCCCCACACTCCCTCTGCCCCCCACACCCTCCTCTGTCCCCT ACACTCCCTCTGTCCCCCATATCCCCCTCTGTCCCCCACACCCTCCTGTG TCCCCCAC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CANT1_chr17_78986716_79014764	79004383	A A	AGGAGTTA others(179): Show AGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTT AGGGAGGGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAAGGGAGTTAGGGA GGGGAGTTAGGGAGAGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAAGGGA GTTAGGGAGGGGGGTTAGGGAGAGGGGAGTTAGGGAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	394	0.0025	186	c.-14 others(205): Show c.-147+5280_-147+5281insCTCCCTAACTCCCCTCTCCCTAACCC CCCTCCCTAACTCCCTTCTCCCTAACCCCCCTCTCCCTAACTCCCCTCTC CCTAACTCCCCTCCCTAACTCCCTTCTCCCTAACCCCCCTCTCCCTAACT CCCCCCTCCCTAACTCCCCTCTCCCTAACTCCCCTCCCTAACTCCCCTCT CCTTAACTCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN11_chr6_44153820_44189401	44181474	T T	TACACAAC others(179): Show TACACAACCACACCACACACACACACACACACACTCACATACAGACACAA CCACACCACACACACACACACTCACATACACAACCACACTCACACACACA CACACACACAGACACAACCACACCACACACACACACACTCACATACAGAC ACAACCACACCACACTCACTCACACACATACACACTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0388 a0001c0001t0001g0388	1	460	0.0022	186	c.193 others(203): Show c.1938+157_1938+158insCAACCACACCACACACACACACACACAC ACTCACATACAGACACAACCACACCACACACACACACACTCACATACACA ACCACACTCACACACACACACACACACAGACACAACCACACCACACACAC ACACACTCACATACAGACACAACCACACCACACTCACTCACACACATACA CACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182252	C C	CCACACAC others(179): Show CCACACACACACACACATACACACTCACATAGACACAACCACACCACACT CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACACACTCACATACAGACACAACCACACCACACACA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0370 a0008c0008t0001g0370	1	460	0.0022	186	c.193 others(203): Show c.1939-669_1939-668insCACTCACATAGACACAACCACACCACAC TCACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACACTCACATACAGACACAACCACACCACACACACACACACACACA CACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38736017	G G	GGGCGGGG others(179): Show GGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGGC GGTGGTTCTGCGGGCGGGGCGGGGCGGGGGTTCTGGGGGGCGGGGCGGGG CGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGG CGGGGCGGGGCGGGGGTTCTGGGAGCGGGGCAGGTCA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0071 a0002c0004t0001g0071	1	342	0.0029	186	c.158 others(201): Show c.1583+92_1583+93insTGACCTGCCCCGCTCCCAGAACCCCCGCCC CGCCCCGCCCCGCCCCGCCCCGCCCCGCCCGCAGAACCACCGCCCCGCCC CGCCCCGCCCCGCCCCGCCCCCCAGAACCCCCGCCCCGCCCCGCCCGCAG AACCACCGCCCCCGCCCCCAGAACCCCCGCCCCGCCCCGCCCCCAGAACC CCCGCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CASQ2_chr1_115695021_115773714	115761497	G G	GGGAAGGG others(179): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	364	0.0028	186	c.234 others(203): Show c.234+6810_234+6811insTCTTCTTCTTCTTCTTCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCCTCTCCTTCT CCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(179): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCT CCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCC TCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	410	0.0024	186	c.-22 others(197): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAA GG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(179): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCT CCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCC TCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0002 a0011c0008t0002	a0011c0008t0002g0050 a0011c0008t0002g0050	1	410	0.0024	186	c.-22 others(197): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(179): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCT CCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCC TCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02148.hp1 HG02004.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0107 a0001c0001t0008g0108 a0001c0001t0008g0107 a0001c0001t0008g0108	2	410	0.0049	186	c.-22 others(197): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(179): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCT CCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCC TCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	186	c.-22 others(197): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCR6_chr6_167118096_167144141	167130970	G G	GGGCCCCC others(179): Show GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCC CCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTC CCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	460	0.0022	186	c.-97 others(203): Show c.-97-5066_-97-5065insCCCCCCTCCCTCCGGGACTCCTCCCTCT GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCC CCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTC CCTCTAGG	CCR6	ENSG00000112486.18	transcript	ENST00000341935.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCR6_chr6_167118096_167144141	167130970	G G	GGGCCCCC others(179): Show GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCC CCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTC CCTCTGGGCCCCCCTCCCTCTGGGACCCCTCCCTCTA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0206 a0001c0002t0003g0206	1	460	0.0022	186	c.-97 others(203): Show c.-97-5066_-97-5065insCCCCCCTCCCTCCGGGACTCCTCCCTCT GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCC CCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCTGGGACCCCTC CCTCTAGG	CCR6	ENSG00000112486.18	transcript	ENST00000341935.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAAAATA others(179): Show AAAAAATATATATATATATATATACTCATATATATATATATACTCATATA TATATATATATATACTCATATATATATATACTCATATATATATATACTCA TATATATATATACTCATATATATATATATATATATATACTCATATATATA TATATATATACTCATATATATATATATATATATACTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0042 a0003c0004t0007g0042	1	370	0.0027	186	c.232 others(207): Show c.2326-11614_2326-11613insAAAATATATATATATATATATACT CATATATATATATATACTCATATATATATATATATATACTCATATATATA TATACTCATATATATATATACTCATATATATATATACTCATATATATATA TATATATATATACTCATATATATATATATATATACTCATATATATATATA TATATATACTCA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84501835	A A	AAATATAT others(179): Show AAATATATATATATATATATATACTCATATATATATATATACTCATATAT ATATATATATATACTCATATATATATATACTCATATATATATATACTCAT ATATATATATACTCATATATATATATATATATATATACTCATATATATAT ATATATATACTCATATATATATATATATATATATACT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19030.hp2 HG02809.hp2 NA19030.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0046 a0003c0004t0007g0047 a0003c0004t0007g0046 a0003c0004t0007g0047	2	370	0.0054	186	c.232 others(207): Show c.2326-11614_2326-11613insAATATATATATATATATATATACT CATATATATATATATACTCATATATATATATATATATACTCATATATATA TATACTCATATATATATATACTCATATATATATATACTCATATATATATA TATATATATATACTCATATATATATATATATATACTCATATATATATATA TATATATATACT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9			chr10	TogoVar
CD163L1_chr12_7349960_7449153	7437239	T T	TTTAAATA others(179): Show TTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAA TAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATAGTAT TTAAATAGTATTTAAATAGTATTTAAATAGTATTTAAATACTATTTAAAT ACTATTTAAATACTATTTAAATACTTTTAAATAAATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0193 a0003c0005t0001g0193	1	384	0.0026	186	c.125 others(203): Show c.125-3546_125-3545insTATTTATTTAAAAGTATTTAAATAGTAT TTAAATAGTATTTAAATAGTATTTAAATACTATTTAAATACTATTTAAAT ACTATTTAAATACTATTTAAATACTATTTAAATACTATTTAAATACTATT TAAATACTATTTAAATACTATTTAAATACTATTTAAATACTATTTAAATA CTATTTAA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	2/19			chr12	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(179): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACACGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02615.hp2 others(7): Show HG01884.hp1 HG02258.hp2 HG02615.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03098.hp2 HG03486.hp2 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021	a0001c0001t0001g0005 a0001c0001t0004g0015 a0001c0001t0006g0005 others(1): Show a0001c0001t0001g0005 a0001c0001t0004g0015 a0001c0001t0006g0005 a0001c0001t0021g0005	10	442	0.0226	186	c.27 others(197): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACACGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATAC GC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(179): Show TATATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTA TATACACACGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA19043.hp1 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	2	442	0.0045	186	c.27 others(197): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAC GTGTGTATATACGTATATACACACGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATAC GC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDC34_chr19_526760_547087	540459	C C	CCCCCCAC others(179): Show CCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTTTA GAATCCAGAGGCTGGGATGGCCAGGCCCCCGGGTTTAGAATCCGGAGGCC GGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGG CCCCCGGGTTTAGAATCCAGAGGCTGGGATGGCCAGG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02735.hp1 NA18971.hp1 HG02273.hp2 HG02735.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0042 a0001c0001t0002g0120 a0001c0001t0007g0001 a0001c0001t0002g0042 a0001c0001t0002g0120 a0001c0001t0007g0001	3	328	0.0092	186	c.498 others(201): Show c.498-875_498-874insACGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCCCGGGTTTAGAATCCAGAGGCTGGGATGGCCAGGCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGG CCGGGGTGGCCAGGCCCCCGGGTTTAGAATCCAGAGGCTGGGATGGCCAG GCCCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEP170B_chr14_104860268_104901747	104884703	T T	TGATGCCG others(179): Show TGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGTGGCGA GTGAGAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCG AGTGAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGCGATGCCGGGGGTGG CGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAGGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01928.hp1 HG01928.hp2 others(1): Show HG01192.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp2	a0001 a0022 a0001 a0022	a0001c0003 a0022c0030 a0001c0003 a0022c0030	a0001c0003t0002 a0022c0030t0002 a0001c0003t0002 a0022c0030t0002	a0001c0003t0002g0235 a0001c0003t0002g0239 a0001c0003t0002g0241 others(1): Show a0001c0003t0002g0235 a0001c0003t0002g0239 a0001c0003t0002g0241 a0022c0030t0002g0240	4	328	0.0122	186	c.177 others(203): Show c.1770+192_1770+193insGGGGGTGGCGAGTGAGAGCCCTCGTGGG GAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGG GGAACGGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGT GGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCG TGGGGAAC	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CERS6_chr2_168451272_168780134	168631576	T T	TATATATT others(179): Show TATATATTTAATATTTATATATTAAATATATAATATATTTAATATTTATA TATTAAATATATAATATATTTAATATTTATATATTAAATATAATATATAT TTAATATTTATATATTAAATATATAATATATTTAATATTTATATATTAAA TATATAATATATTTAATATTTATATATTAAATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0077 a0001c0002t0003g0077	1	176	0.0057	186	c.465 others(201): Show c.465+585_465+586insTTAAATATATAATATATTTAATATTTATAT ATTAAATATAATATATATTTAATATTTATATATTAAATATATAATATATT TAATATTTATATATTAAATATATAATATATTTAATATTTATATATTAAAT ATATAATATATTTAATATTTATATATTAAATATATAATATATTTAATATT TATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168631576	T T	TATATATT others(179): Show TATATATTTAATATTTATATATTAAATATATAATATATTTAATATTTATA TATTAAATATATAATATATTTAATATTTATATATTAAATATATAATATAT TTAATATTTATATATTAAATATATAATATATTTAATATTTATATATTAAA TATATAATATATTTAATATTTATATATTAAATATATA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	176	0.0057	186	c.465 others(201): Show c.465+585_465+586insTTAAATATATAATATATTTAATATTTATAT ATTAAATATATAATATATTTAATATTTATATATTAAATATATAATATATT TAATATTTATATATTAAATATATAATATATTTAATATTTATATATTAAAT ATATAATATATTTAATATTTATATATTAAATATATAATATATTTAATATT TATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168631619	A A	ATTTATAT others(179): Show ATTTATATATTAAATATATAATATATTTAATATTTATATATTAAATATAT AATATATTTAATATTTATATATTAAATATATAATATATTTAATATTTATA TATTAAATATATAATATATTTAATATTTATATATTAAATATATAATATAT TTAATATTTATATATTAAATATATAATATATTTAATG	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18945.hp1 HG02071.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0036 a0001c0001t0002 a0001c0001t0036	a0001c0001t0002g0151 a0001c0001t0036g0149 a0001c0001t0002g0151 a0001c0001t0036g0149	2	176	0.0114	186	c.465 others(201): Show c.465+585_465+586insTTAAATATATAATATATTTAATATTTATAT ATTAAATATATAATATATTTAATATTTATATATTAAATATATAATATATT TAATATTTATATATTAAATATATAATATATTTAATATTTATATATTAAAT ATATAATATATTTAATATTTATATATTAAATATATAATATATTTAATGTT TATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168631619	A A	ATTTATAT others(179): Show ATTTATATATTAAATATATAATATATTTAATATTTATATATTAAATATAT AATATATTTAATATTTATATATTAAATATATAATATATTTAATATTTATA TATTAAATATATAATATATTTAATATTTATATATTAAATATATTATATAT TTAATATTTATATATTAAATATATAATATATTTAATG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18957.hp1 NA18954.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0091 a0001c0001t0002g0001 a0001c0001t0002g0091	2	176	0.0114	186	c.465 others(201): Show c.465+585_465+586insTTAAATATATAATATATTTAATATTTATAT ATTAAATATATAATATATTTAATATTTATATATTAAATATATAATATATT TAATATTTATATATTAAATATATAATATATTTAATATTTATATATTAAAT ATATTATATATTTAATATTTATATATTAAATATATAATATATTTAATGTT TATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP99_chr4_2413955_2468002	2435992	C C	CGAGGTGG others(179): Show CGAGGTGGGGAGCAGCTACTCAGGAGGCCGAGGTGGGGAGCAGCTACTCA GGAGGCCGAGGTGGGGAGCAGCTACTCAGGAGGCTGAGGTGGGAAGGGAG GCCGAGGTGGGGAGCAGCTACTCAGGAGGCCGAGGTGGGGAGCAGCTACT CAGGAGGCCGAGGTGGGGAGCAGCTACTCAGGAGGCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02080.hp1 HG02165.hp2 others(1): Show HG00544.hp2 HG02080.hp1 HG02165.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0231 a0001c0002t0001g0232 a0002c0001t0001g0227 others(1): Show a0001c0002t0001g0231 a0001c0002t0001g0232 a0002c0001t0001g0227 a0002c0001t0001g0233	4	350	0.0114	186	c.112 others(201): Show c.112-874_112-873insGAGCAGCTACTCAGGAGGCCGAGGTGGGGA GCAGCTACTCAGGAGGCCGAGGTGGGGAGCAGCTACTCAGGAGGCTGAGG TGGGAAGGGAGGCCGAGGTGGGGAGCAGCTACTCAGGAGGCCGAGGTGGG GAGCAGCTACTCAGGAGGCCGAGGTGGGGAGCAGCTACTCAGGAGGCTGA GGTGGG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(179): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGAGGGGAGGGGAGG GGAGGGGAGGAGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGGGAGGGGAG GGGAGGAGGGGAGGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAG GGGAGAGAAGAGGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG03927.hp2 others(1): Show HG00735.hp1 HG00738.hp2 HG03927.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0098	4	384	0.0104	186	c.319 others(203): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCCCCTCC CCTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCTCCTCTC CTCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCTCT CCTCTCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(179): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGAGGGGAGGGGAGG GGAGGGGAGGAGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGGGAGGGGAG GGGGGGGAGGGGAGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAG GGGAGAGAAGAGGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	384	0.0026	186	c.319 others(203): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCCCTCCC CTCCCCCCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCTCCTCTC CTCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCTCT CCTCTCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(179): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGAGGGGAGGGGAGG GGAGGGGAGGAGAGGAGGGGAGGGGAGGGGGAGGAGAGGAGGGGAGGGGA GGGGAGGAGGGGAGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAG GGGAGAGAAGAGGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	384	0.0026	186	c.319 others(203): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCCCTCCCCTCCCCTCCTCTC CTCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCTCT CCTCTCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(179): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGAGGGGAGGGGAGG GGGAGGGGAGGAGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGGGAGGGGA GGGGAGGAGGGGAGGGGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAG GGGAGAGAAGAGGAGAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	384	0.0026	186	c.319 others(203): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCTCCTCTCC TCCCCTCCCCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCTCT CCTCTCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHMP4A_chr14_24204615_24218488	24209057	G G	GAAAGCTA others(179): Show GAAAGCTACTTGCTCCTTCCATTCCAAGTAGCAAAGCTACTTGCTCCTTC CATTCCAAGTAGCAAAGCTACTTGCTCCTTCCATTCCAAGTAGCAAAGCT ACTTGCTCCTTCCATTCCAAGTAGCAAAGCTACTTGCTCCTTCCATTCCA AGTAGCAAAGCTACTTGCTCCTTCCATTCCAAGTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00733.hp2 HG00735.hp1 others(10): Show HG00408.hp2 HG00733.hp2 HG00735.hp1 HG02647.hp1 HG02895.hp2 HG02897.hp1 HG03209.hp1 HG03516.hp1 NA18947.hp1 NA18951.hp2 NA18992.hp1 NA19005.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0019 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0002g0013 a0001c0001t0002g0062	13	418	0.0311	186	c.81 others(195): Show c.819_*820insGCTACTTGGAATGGAAGGAGCAAGTAGCTTTGCTAC TTGGAATGGAAGGAGCAAGTAGCTTTGCTACTTGGAATGGAAGGAGCAAG TAGCTTTGCTACTTGGAATGGAAGGAGCAAGTAGCTTTGCTACTTGGAAT GGAAGGAGCAAGTAGCTTTGCTACTTGGAATGGAAGGAGCAAGTAGCTTT	CHMP4A	ENSG00000254505.11	transcript	ENST00000347519.12	protein_coding		557		chr14	TogoVar
CHRNA6_chr8_42747620_42773786	42766494	A A	AAAAGAAA others(179): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0049 a0001c0001t0010g0049	1	350	0.0029	186	c.80- others(201): Show c.80-1291_80-1290insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	CHRNA6	ENSG00000147434.9	transcript	ENST00000276410.7	protein_coding	1/5			chr8	TogoVar
CHRNA7_chr15_32025515_32178018	32154878	C C	CACCTCAC others(179): Show CACCTCACACACACAACCACTCAGTACTCACACACACCACTCACACCACT CACACTACTCACACCACTCATACACACCACCCACACACACTGTTCACACA ACACACACACCACTCACAATCACACACACCACTCACACAACCACTCACAT ACCACCCACATGACTCAACACACACACCACTCACACA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0013 a0001c0002t0005g0013	1	307	0.0033	186	c.430 others(201): Show c.430+893_430+894insCCTCACACACACAACCACTCAGTACTCACA CACACCACTCACACCACTCACACTACTCACACCACTCATACACACCACCC ACACACACTGTTCACACAACACACACACCACTCACAATCACACACACCAC TCACACAACCACTCACATACCACCCACATGACTCAACACACACACCACTC ACACAA	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32154878	C C	CACCTCAC others(179): Show CACCTCACACACACACACACCACTCAGTACTCACACACACCACTCACACC ACTCACACTACTCACACCACTCATACACACCACCCACACACACTGTTCAC ACAACACACACACCACTCACAATCACACACACCACTCACACAACCACTCA ACCACCCACATGACTCAACACACACACCACTCACACA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0103 a0001c0002t0038g0103	1	307	0.0033	186	c.430 others(201): Show c.430+893_430+894insCCTCACACACACACACACCACTCAGTACTC ACACACACCACTCACACCACTCACACTACTCACACCACTCATACACACCA CCCACACACACTGTTCACACAACACACACACCACTCACAATCACACACAC CACTCACACAACCACTCAACCACCCACATGACTCAACACACACACCACTC ACACAA	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32154878	C C	CACCTCAC others(179): Show CACCTCACACACACACACACCACTCAGTACTCACACACACCACTCACACC ACTCACACTACTCACACCACTCATACACACCACCCACACACACTGTTCAC ACAACACACACACCACTCACAATCACACACACCACTCACACAACCACTCA CATACCACCATGACTCAACACACACACCACTCACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01070.hp1 others(36): Show HG00099.hp2 HG00639.hp2 HG01070.hp1 HG01074.hp2 HG01192.hp1 HG01255.hp2 HG01358.hp1 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp2 HG02071.hp1 HG02273.hp2 HG02293.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp2 HG04228.hp2 NA18946.hp1 NA18969.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA19057.hp1 NA19068.hp1 NA19074.hp1 NA19083.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0015 a0001c0001t0030 others(3): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0030 a0001c0001t0036 a0001c0001t0047 a0001c0002t0031	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0017 others(36): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0130 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0167 a0001c0001t0001g0175 a0001c0001t0001g0212 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0015g0124 a0001c0001t0015g0191 a0001c0001t0015g0216 a0001c0001t0015g0303 a0001c0001t0030g0040 a0001c0001t0036g0250 a0001c0001t0047g0106 a0001c0002t0031g0041 a0001c0002t0031g0117	39	307	0.1270	186	c.430 others(201): Show c.430+893_430+894insCCTCACACACACACACACCACTCAGTACTC ACACACACCACTCACACCACTCACACTACTCACACCACTCATACACACCA CCCACACACACTGTTCACACAACACACACACCACTCACAATCACACACAC CACTCACACAACCACTCACATACCACCATGACTCAACACACACACCACTC ACACAA	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
COL21A1_chr6_56051590_56252580	56098122	T T	TGTAAATA others(179): Show TGTAAATATATAAATATATATAAATATATATGTAAATATATAAATATATA TAAATAAATATATATAAATATATATAAATATAAATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATAAAAATATATATAAATATATAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	264	0.0038	186	c.181 others(205): Show c.1812+3349_1812+3350insTTTTATATATTTATATATATTTTTAT ATATATTTATATATTTATAAATATATTTATATTTATATATATTTACATAT ATATTTAGAATTACATATTTATATATATTTATATTTATATATATTTATAT ATATTTATTTATATATATTTATATATTTACATATATATTTATATATATTT ATATATTTAC	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178585731	C C	CACAGCCC others(179): Show CACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCA CTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAA TGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0216 a0001c0001t0005g0216	1	236	0.0042	186	c.294 others(203): Show c.294+4172_294+4173insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGTGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAAGAAGG others(179): Show CAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGCAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0001 a0001c0057t0001	a0001c0057t0001g0051 a0001c0057t0001g0051	1	344	0.0029	186	c.85- others(203): Show c.85-12935_85-12934insTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTGCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCT CCCTTCTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(179): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01123.hp2 HG01346.hp1 others(16): Show HG00438.hp1 HG01123.hp2 HG01346.hp1 HG01928.hp1 HG01981.hp2 HG01993.hp1 HG02523.hp1 HG04204.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18972.hp1 NA18981.hp2 NA18998.hp1 NA19074.hp1 NA19087.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0001c0003 a0001c0013 others(11): Show a0001c0001 a0001c0003 a0001c0013 a0001c0019 a0002c0002 a0002c0024 a0002c0028 a0002c0040 a0002c0082 a0002c0113 a0003c0012 a0003c0085 a0006c0042 a0009c0088	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0013t0001 a0001c0019t0001 a0002c0002t0002 a0002c0024t0002 a0002c0028t0003 a0002c0028t0004 a0002c0040t0002 a0002c0082t0002 a0002c0113t0002 a0003c0012t0002 a0003c0085t0002 a0006c0042t0002 a0009c0088t0011	a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0001g0116 others(16): Show a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0001g0116 a0001c0001t0005g0020 a0001c0003t0001g0088 a0001c0013t0001g0022 a0001c0019t0001g0027 a0002c0002t0002g0272 a0002c0002t0002g0295 a0002c0024t0002g0276 a0002c0028t0003g0264 a0002c0028t0004g0330 a0002c0040t0002g0339 a0002c0082t0002g0296 a0002c0113t0002g0273 a0003c0012t0002g0279 a0003c0085t0002g0328 a0006c0042t0002g0278 a0009c0088t0011g0289	19	344	0.0552	186	c.85- others(203): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202846	C C	CACATATA others(179): Show CACATATATGTGTATATATGTGTATATATACACATATATGTGTATATATG TGTATATATACACATATATGTGTATATATGTGTATATATATGTGTATATA TGTGTATATATACACATATATGTGTATATATGTGTATATATGTGTATATA TGTGTATATATACACATATATGTGTATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03927.hp2 HG01943.hp1 HG03927.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0007 a0005c0005t0001 a0005c0005t0007	a0005c0005t0001g0243 a0005c0005t0007g0162 a0005c0005t0001g0243 a0005c0005t0007g0162	2	344	0.0058	186	c.88- others(203): Show c.88-35121_88-35120insCATATATGTGTATATATGTGTATATATA CACATATATGTGTATATATGTGTATATATACACATATATGTGTATATATG TGTATATATATGTGTATATATGTGTATATATACACATATATGTGTATATA TGTGTATATATGTGTATATATGTGTATATATACACATATATGTGTATATA TGTGTATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A1_chr9_134636803_134849843	134847649	T T	TAGTGTGC others(179): Show TAGTGTGCATGCCTGTGTGTGTGGTTTGTGCTGTGTCTGTATAGTGTGTG TGTGGGTGTGGTGTGTGTGCCTGTGTGTGGAGGTGGTGTTTGTGCATGTG CCTGTGTGGTGTGTGTGCTGGCGTGTGTATGTGTGCACGCCTGTGGGGAA TGTGCCTGTGTGTGTGTGGTGTGTGCTGCATGTGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0061 a0002c0013t0003g0061	1	272	0.0037	186	c.53 others(197): Show c.5346_*5347insAGTGTGCATGCCTGTGTGTGTGGTTTGTGCTGTG TCTGTATAGTGTGTGTGTGGGTGTGGTGTGTGTGCCTGTGTGTGGAGGTG GTGTTTGTGCATGTGCCTGTGTGGTGTGTGTGCTGGCGTGTGTATGTGTG CACGCCTGTGGGGAATGTGCCTGTGTGTGTGTGGTGTGTGCTGCATGTGT AA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		2807		chr9	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCCGC others(179): Show GCCCCCGCCCCACCCCGCCCCCTCAGTCAGTGGCCCCGCCCCCCTCCACA CCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTG GAGTCCCCCCGGCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCCCCGCCCC CCCCCCCGCCGCCCCCGCCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0302 a0001c0004t0002g0302	1	348	0.0029	186	c.927 others(201): Show c.927+232_927+233insCGCCCCACCCCGCCCCCTCAGTCAGTGGCC CCGCCCCCCTCCACACCGGGACCTGCCCCCCGCCCACCCGGAGGAGGAAC CAGGCCAGATACCTGGAGTCCCCCCGGCCGCCCCTGCCCCCGCCCCCGCC CCCGCCCCCCGCCCCCCCCCCCGCCGCCCCCGCCCCCCGCCCCCGCCCCC GCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(179): Show GCCCCGCCCCTCCCTGCCCCCTCAGTCTGTGGCCCCGCCCCGCCCCGCCC CCTCAGTCCGTGGCCCCGCCCCCTCCACACCGGGACCCGCCCCCCGCCCA CCCGGAGGAGGAACCAGGCCAGATACCTGGAGTACCCCCCGCCGCCCCTG CCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02258.hp2 HG02630.hp1 others(4): Show HG00639.hp1 HG02258.hp2 HG02630.hp1 HG02818.hp2 HG02976.hp1 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0031	a0001c0001t0001 a0001c0002t0001 a0001c0007t0006 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0006 a0001c0031t0001	a0001c0001t0001g0062 a0001c0001t0001g0284 a0001c0001t0001g0285 others(4): Show a0001c0001t0001g0062 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0002t0001g0287 a0001c0007t0006g0157 a0001c0031t0001g0164	7	348	0.0201	186	c.927 others(201): Show c.927+237_927+238insTCCCTGCCCCCTCAGTCTGTGGCCCCGCCC CGCCCCGCCCCCTCAGTCCGTGGCCCCGCCCCCTCCACACCGGGACCCGC CCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTACCCCCC GCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCC CGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587808	C C	CCCCCGTG others(179): Show CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCCGTGTTACCCGCGTGTCACCCACAGAAACACGG CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	348	0.0029	186	c.927 others(201): Show c.927+710_927+711insGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGTCA CCCACAGAAACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar

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