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
CACNB4_chr2_151827771_152104044	152035651	C C	CTCTCTCT others(7): Show CTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0098 a0001c0003t0006g0098	1	118	0.0085	14	c.147 others(33): Show c.147+62678_147+62679insTATATATAGAGAGA	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152093400	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03710.hp1 HG02135.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0156 a0001c0002t0003g0155 a0001c0001t0002g0156 a0001c0002t0003g0155	2	96	0.0208	14	c.147 others(31): Show c.147+4916_147+4929dupACACACACACACAC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNG2_chr22_36555857_36708752	36574800	C C	CAAAACAA others(7): Show CAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02055.hp1 HG01496.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0081 a0001c0001t0047 a0001c0001t0081	a0001c0001t0047g0012 a0001c0001t0081g0153 a0001c0001t0047g0012 a0001c0001t0081g0153	2	208	0.0096	14	c.296 others(31): Show c.296-8308_296-8307insTTTTGTTTTGTTTT	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	2/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36625026	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00639.hp2 others(66): Show HG00280.hp2 HG00558.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01168.hp1 HG01175.hp2 HG01346.hp1 HG01496.hp1 HG01517.hp1 HG01943.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02257.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03579.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18946.hp2 NA18961.hp2 NA18963.hp1 NA18979.hp1 NA18984.hp2 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19064.hp2 NA19079.hp1 NA19091.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0001t0056 a0001c0001t0057 a0001c0001t0064 a0001c0001t0069 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0080 a0001c0001t0084 a0001c0001t0085 a0001c0001t0089 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0098 a0001c0001t0099 a0001c0001t0106 a0001c0001t0109 a0001c0001t0110	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0025 others(65): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0002g0046 a0001c0001t0002g0073 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0003g0142 a0001c0001t0003g0160 a0001c0001t0003g0176 a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0076 a0001c0001t0004g0083 a0001c0001t0005g0120 a0001c0001t0005g0124 a0001c0001t0006g0155 a0001c0001t0007g0002 a0001c0001t0007g0092 a0001c0001t0008g0140 a0001c0001t0009g0119 a0001c0001t0009g0121 a0001c0001t0009g0122 a0001c0001t0010g0059 a0001c0001t0010g0068 a0001c0001t0013g0192 a0001c0001t0014g0069 a0001c0001t0015g0006 a0001c0001t0015g0042 a0001c0001t0016g0093 a0001c0001t0021g0114 a0001c0001t0022g0129 a0001c0001t0022g0132 a0001c0001t0023g0115 a0001c0001t0028g0080 a0001c0001t0035g0044 a0001c0001t0036g0091 a0001c0001t0038g0021 a0001c0001t0046g0055 a0001c0001t0047g0012 a0001c0001t0048g0094 a0001c0001t0051g0097 a0001c0001t0056g0107 a0001c0001t0057g0108 a0001c0001t0064g0117 a0001c0001t0069g0139 a0001c0001t0073g0165 a0001c0001t0074g0144 a0001c0001t0076g0141 a0001c0001t0077g0152 a0001c0001t0080g0162 a0001c0001t0084g0179 a0001c0001t0085g0182 a0001c0001t0089g0189 a0001c0001t0091g0194 a0001c0001t0093g0191 a0001c0001t0094g0193 a0001c0001t0098g0188 a0001c0001t0099g0201 a0001c0001t0106g0208 a0001c0001t0109g0210 a0001c0001t0110g0212	69	122	0.5656	14	c.212 others(33): Show c.212-37492_212-37479dupTTTTTTTTTTTTTT	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36676932	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00741.hp1 others(12): Show HG00280.hp1 HG00438.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01516.hp2 HG02523.hp2 HG02615.hp1 HG02698.hp2 HG02897.hp2 HG03130.hp1 HG04228.hp1 NA19043.hp1 NA19064.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0039 a0001c0001t0042	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0082 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0082 a0001c0001t0002g0041 a0001c0001t0002g0073 a0001c0001t0002g0086 a0001c0001t0003g0142 a0001c0001t0004g0083 a0001c0001t0006g0143 a0001c0001t0011g0101 a0001c0001t0012g0173 a0001c0001t0014g0069 a0001c0001t0039g0066 a0001c0001t0042g0032	15	45	0.3333	14	c.211 others(33): Show c.211+25420_211+25433dupCACACACACACACA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36699237	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0207 a0001c0001t0104g0207	1	19	0.0526	14	c.211 others(31): Show c.211+3115_211+3128dupTGTGTGTGTGTGTG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(7): Show GCTCGCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 NA18961.hp2 NA19055.hp2 HG02897.hp2 NA18961.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0109 a0001c0001t0111 a0001c0001t0011 a0001c0001t0109 a0001c0001t0111	a0001c0001t0011g0101 a0001c0001t0109g0210 a0001c0001t0111g0213 a0001c0001t0011g0101 a0001c0001t0109g0210 a0001c0001t0111g0213	3	141	0.0213	14	c.-11 others(25): Show c.-1185_-1184insAGAGAGAGAGCGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCTCTC others(7): Show GCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03471.hp1 HG03098.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0048 a0001c0001t0030 a0001c0001t0048	a0001c0001t0030g0011 a0001c0001t0048g0094 a0001c0001t0030g0011 a0001c0001t0048g0094	2	140	0.0143	14	c.-11 others(25): Show c.-1185_-1184insAGAGAGAGAGAGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703801	T T	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0205 a0001c0001t0101g0205	1	99	0.0101	14	c.-12 others(25): Show c.-1226_-1225insGAGAGAGAGAGAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		50		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703826	T T	TCTCTCTC others(7): Show TCTCTCTCTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0200 a0001c0001t0090g0200	1	188	0.0053	14	c.-12 others(25): Show c.-1251_-1250insGGAGAGAGAGAGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		75		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706219	T T	TTTCTCTT others(7): Show TTTCTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0072 a0001c0001t0034g0072	1	199	0.0050	14	c.-36 others(25): Show c.-3644_-3643insGAAGAAGAAGAGAA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2468		chr22	TogoVar
CACNG3_chr16_24251335_24367412	24252666	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	139	0.0072	14	c.-40 others(25): Show c.-4089_-4088insTTTTTTTTTTTTTT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding		3668		chr16	TogoVar
CACNG3_chr16_24251335_24367412	24257368	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	100	0.0100	14	c.211 others(29): Show c.211+450_211+463dupGAGAGAGAGAGAGA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24257368	G G	GGGGAGAG others(7): Show GGGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	100	0.0100	14	c.211 others(29): Show c.211+404_211+405insGGAGAGAGAGAGAG	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24312955	G G	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01346.hp2 HG02559.hp2 others(11): Show HG01123.hp1 HG01346.hp2 HG02559.hp2 HG02615.hp2 HG02809.hp1 HG02886.hp2 HG03491.hp2 NA18941.hp1 NA18972.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19090.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0037 others(11): Show a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0150 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0228 a0001c0001t0001g0244 a0001c0001t0001g0262 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0361	14	209	0.0670	14	c.212 others(33): Show c.212-33778_212-33777insAAGAAAGAAAGAAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24317586	G G	GAAAGAAA others(7): Show GAAAGAAAGAAAGGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	359	0.0028	14	c.212 others(33): Show c.212-29136_212-29135insGAAAAGAAAGAAAG	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24317602	G G	GAAAGAAA others(7): Show GAAAGAAAGAAAGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	362	0.0028	14	c.212 others(33): Show c.212-29120_212-29119insGAAAAGAAAGAAAG	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24317648	A A	AAAGAAAG others(7): Show AAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	209	0.0048	14	c.212 others(33): Show c.212-29084_212-29083insGAAAGAAAGAAGAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24317648	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	209	0.0048	14	c.212 others(33): Show c.212-29085_212-29084insGAAAGAAAGAAAGA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG4_chr17_66959707_67038398	67002618	T T	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG04204.hp2 NA19087.hp2 HG03710.hp2 HG04204.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0053 a0001c0003t0003g0045 a0001c0003t0003g0046 a0001c0002t0002g0053 a0001c0003t0003g0045 a0001c0003t0003g0046	3	211	0.0142	14	c.221 others(33): Show c.221-15556_221-15543dupTCTCTCTCTCTCTC	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG5_chr17_66830117_66899751	66838960	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp2 HG01255.hp1 others(3): Show HG01081.hp2 HG01243.hp2 HG01255.hp1 HG01515.hp1 HG02698.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0004 a0001c0001t0008 a0001c0001t0019 others(3): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0019 a0001c0001t0020 a0001c0001t0032 a0002c0009t0004	a0001c0001t0004g0098 a0001c0001t0008g0217 a0001c0001t0019g0342 others(3): Show a0001c0001t0004g0098 a0001c0001t0008g0217 a0001c0001t0019g0342 a0001c0001t0020g0100 a0001c0001t0032g0099 a0002c0009t0004g0097	6	66	0.0909	14	c.-10 others(33): Show c.-104+3716_-104+3729dupTTTTTTTTTTTTTT	CACNG5	ENSG00000075429.9	transcript	ENST00000533854.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG5_chr17_66830117_66899751	66862892	C C	CTCTCTGT others(7): Show CTCTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01255.hp2 HG02056.hp1 others(9): Show HG00438.hp1 HG01255.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02572.hp2 HG03225.hp2 NA18990.hp1 NA19009.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0017 a0001c0001t0043 a0001c0001t0085 a0001c0001t0121 a0001c0002t0025	a0001c0001t0001g0103 a0001c0001t0001g0258 a0001c0001t0005g0094 others(9): Show a0001c0001t0001g0103 a0001c0001t0001g0258 a0001c0001t0005g0094 a0001c0001t0007g0341 a0001c0001t0015g0307 a0001c0001t0017g0181 a0001c0001t0017g0192 a0001c0001t0017g0259 a0001c0001t0043g0266 a0001c0001t0085g0077 a0001c0001t0121g0296 a0001c0002t0025g0089	12	108	0.1111	14	c.-10 others(35): Show c.-103-14337_-103-14336insCTCTGTGTGTGTGT	CACNG5	ENSG00000075429.9	transcript	ENST00000533854.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG5_chr17_66830117_66899751	66862892	C C	CTCTGTGT others(7): Show CTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0184 a0001c0001t0072g0184	1	97	0.0103	14	c.-10 others(35): Show c.-103-14337_-103-14336insCTGTGTGTGTGTGT	CACNG5	ENSG00000075429.9	transcript	ENST00000533854.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG5_chr17_66830117_66899751	66895538	A A	AGGGTCAG others(7): Show AGGGTCAGGCCTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0199	1	370	0.0027	14	c.10 others(27): Show c.10298_*10299insGGGTCAGGCCTGGT	CACNG5	ENSG00000075429.9	transcript	ENST00000533854.6	protein_coding		788		chr17	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(7): Show AAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	173	0.0058	14	c.545 others(29): Show c.545-745_545-744insAAAAAAAATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011221	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	290	0.0034	14	c.545 others(29): Show c.545-729_545-728insCACACACACACACA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54013290	C C	CATATATA others(7): Show CATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03516.hp1 HG01884.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0228 a0001c0001t0012g0229 a0001c0001t0012g0228 a0001c0001t0012g0229	2	112	0.0179	14	c.11 others(25): Show c.1101_*1102insATATATATATATAT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		625		chr19	TogoVar
CACUL1_chr10_118671411_118759970	118738892	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03516.hp1 HG02451.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0061 a0001c0001t0031 a0001c0001t0061	a0001c0001t0031g0050 a0001c0001t0061g0049 a0001c0001t0031g0050 a0001c0001t0061g0049	2	117	0.0171	14	c.368 others(31): Show c.368-8496_368-8483dupTTTTTTTTTTTTTT	CACUL1	ENSG00000151893.15	transcript	ENST00000369151.8	protein_coding	1/8			chr10	TogoVar
CACUL1_chr10_118671411_118759970	118746151	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0034 a0001c0001t0099g0034	1	286	0.0035	14	c.367 others(31): Show c.367+8231_367+8244dupTTTTTTTTTTTTTT	CACUL1	ENSG00000151893.15	transcript	ENST00000369151.8	protein_coding	1/8			chr10	TogoVar
CADM1_chr11_115164236_115509415	115196595	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02148.hp2 NA19070.hp1 HG01361.hp1 HG02148.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0032 a0001c0001t0015 a0001c0001t0016 a0001c0001t0032	a0001c0001t0015g0139 a0001c0001t0016g0141 a0001c0001t0032g0156 a0001c0001t0015g0139 a0001c0001t0016g0141 a0001c0001t0032g0156	3	24	0.1250	14	c.111 others(33): Show c.1111+1797_1111+1810dupTTTTTTTTTTTTTT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	9/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115206758	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp1 HG03225.hp1 HG02622.hp2 HG03041.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0056 a0001c0001t0059 a0001c0001t0011 a0001c0001t0056 a0001c0001t0059	a0001c0001t0011g0164 a0001c0001t0056g0155 a0001c0001t0059g0017 a0001c0001t0011g0164 a0001c0001t0056g0155 a0001c0001t0059g0017	3	6	0.5000	14	c.107 others(33): Show c.1078+2802_1078+2815dupAAAAAAAAAAAAAA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	8/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115284087	A A	ACTCTCTC others(7): Show ACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02074.hp1 HG02818.hp1 others(2): Show HG01106.hp2 HG02074.hp1 HG02818.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0043 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0043 a0001c0001t0062	a0001c0001t0002g0015 a0001c0001t0002g0153 a0001c0001t0008g0025 others(2): Show a0001c0001t0002g0015 a0001c0001t0002g0153 a0001c0001t0008g0025 a0001c0001t0043g0135 a0001c0001t0062g0033	5	61	0.0820	14	c.125 others(33): Show c.125-43681_125-43668dupAGAGAGAGAGAGAG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115284114	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0036 a0001c0001t0009g0036	1	129	0.0078	14	c.125 others(33): Show c.125-43695_125-43694insCAGAGAGAGAGAGA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115306072	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01884.hp2 others(10): Show HG00735.hp2 HG01109.hp1 HG01884.hp2 HG02055.hp2 HG02965.hp1 HG03098.hp2 HG03486.hp2 NA18969.hp1 NA18977.hp1 NA19043.hp1 NA19067.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0017 a0001c0001t0031 a0001c0001t0036 a0001c0001t0053 a0001c0005t0010	a0001c0001t0001g0053 a0001c0001t0002g0061 a0001c0001t0002g0110 others(10): Show a0001c0001t0001g0053 a0001c0001t0002g0061 a0001c0001t0002g0110 a0001c0001t0003g0014 a0001c0001t0004g0092 a0001c0001t0004g0119 a0001c0001t0012g0021 a0001c0001t0017g0079 a0001c0001t0017g0080 a0001c0001t0031g0097 a0001c0001t0036g0023 a0001c0001t0053g0031 a0001c0005t0010g0073	13	64	0.2031	14	c.125 others(33): Show c.125-65666_125-65653dupTGTGTGTGTGTGTG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115308211	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG01261.hp1 others(14): Show HG01106.hp2 HG01255.hp1 HG01261.hp1 HG02074.hp1 HG02074.hp2 HG02738.hp2 HG03486.hp2 HG03490.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18993.hp2 NA19058.hp2 NA19062.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0034 a0001c0001t0039 a0001c0001t0058 a0001c0001t0061 a0001c0001t0062	a0001c0001t0001g0071 a0001c0001t0001g0163 a0001c0001t0002g0110 others(14): Show a0001c0001t0001g0071 a0001c0001t0001g0163 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0153 a0001c0001t0003g0014 a0001c0001t0005g0126 a0001c0001t0009g0072 a0001c0001t0009g0075 a0001c0001t0012g0102 a0001c0001t0034g0129 a0001c0001t0039g0140 a0001c0001t0058g0069 a0001c0001t0061g0152 a0001c0001t0062g0033	17	84	0.2024	14	c.125 others(33): Show c.125-67792_125-67791insGTGTATATATATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115340658	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03453.hp2 HG02523.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0125 a0001c0001t0030g0020 a0001c0001t0001g0125 a0001c0001t0030g0020	2	56	0.0357	14	c.125 others(35): Show c.125-100239_125-100238insAATATATATATATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115340658	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0025 a0001c0001t0008g0025	1	55	0.0182	14	c.125 others(35): Show c.125-100252_125-100239dupAAAAAAAAAAAAAA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115400661	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0063 a0001c0001t0012g0063	1	58	0.0172	14	c.124 others(35): Show c.124+103596_124+103609dupTATATATATATATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115404346	A A	AAAAAAAA others(7): Show AAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18948.hp2 HG02486.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0039 a0001c0001t0010 a0001c0001t0039	a0001c0001t0010g0159 a0001c0001t0039g0140 a0001c0001t0010g0159 a0001c0001t0039g0140	2	114	0.0175	14	c.124 others(33): Show c.124+99924_124+99925insATATTTTTTTTTTT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115413644	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0012 a0001c0001t0018g0012	1	120	0.0083	14	c.124 others(33): Show c.124+90613_124+90626dupAAAAAAAAAAAAAA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	84982702	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG02922.hp1 HG02258.hp1 HG02630.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0049 a0001c0001t0001 a0001c0001t0002 a0001c0001t0049	a0001c0001t0001g0115 a0001c0001t0002g0019 a0001c0001t0049g0033 a0001c0001t0001g0115 a0001c0001t0002g0019 a0001c0001t0049g0033	3	27	0.1111	14	c.61+ others(31): Show c.61+23054_61+23067dupTATATATATATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85000114	T T	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02257.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0017 a0001c0001t0002g0019	2	61	0.0328	14	c.61+ others(31): Show c.61+40467_61+40480dupTCTCTCTCTCTCTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85027109	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp1 HG03540.hp2 others(2): Show HG02559.hp1 HG02965.hp1 HG03540.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0008 a0001c0002t0011 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0011 a0001c0003t0026	a0001c0001t0002g0100 a0001c0001t0008g0013 a0001c0001t0008g0014 others(2): Show a0001c0001t0002g0100 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0002t0011g0012 a0001c0003t0026g0015	5	28	0.1786	14	c.61+ others(31): Show c.61+67451_61+67464dupTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85076303	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG03710.hp1 others(3): Show HG02630.hp2 HG02886.hp1 HG03710.hp1 HG03927.hp2 NA18984.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0002t0007 a0002c0005t0004	a0001c0001t0001g0018 a0001c0001t0002g0019 a0001c0001t0004g0105 others(3): Show a0001c0001t0001g0018 a0001c0001t0002g0019 a0001c0001t0004g0105 a0001c0001t0012g0086 a0001c0002t0007g0095 a0002c0005t0004g0058	6	39	0.1538	14	c.61+ others(33): Show c.61+116658_61+116671dupTGTGTGTGTGTGTG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85191945	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0140 a0001c0002t0011g0140	1	51	0.0196	14	c.61+ others(33): Show c.61+232289_61+232302dupGTGTGTGTGTGTGT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85199364	T T	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0042 a0001c0003t0042	a0001c0003t0042g0109 a0001c0003t0042g0109	1	146	0.0068	14	c.61+ others(33): Show c.61+239697_61+239698insAGAGAGAGAGAGAG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85308310	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02258.hp2 others(5): Show HG01516.hp1 HG01517.hp1 HG02258.hp2 HG02572.hp2 HG04199.hp2 HG04204.hp2 NA18989.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0038 a0001c0001t0047	a0001c0001t0001g0099 a0001c0001t0002g0044 a0001c0001t0002g0045 others(5): Show a0001c0001t0001g0099 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0137 a0001c0001t0003g0104 a0001c0001t0009g0037 a0001c0001t0038g0142 a0001c0001t0047g0038	8	85	0.0941	14	c.61+ others(33): Show c.61+348660_61+348673dupCACACACACACACA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85354618	C C	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02015.hp1 HG02683.hp2 others(9): Show HG01361.hp2 HG02015.hp1 HG02683.hp2 HG03492.hp2 HG03927.hp2 HG04204.hp1 HG06807.hp2 NA18952.hp1 NA18977.hp1 NA18989.hp2 NA19060.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0001t0027 a0001c0001t0043 a0001c0001t0047 a0002c0005t0004	a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0004g0064 others(9): Show a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0004g0064 a0001c0001t0009g0008 a0001c0001t0009g0037 a0001c0001t0009g0066 a0001c0001t0010g0146 a0001c0001t0018g0039 a0001c0001t0027g0022 a0001c0001t0043g0060 a0001c0001t0047g0038 a0002c0005t0004g0058	12	37	0.3243	14	c.62- others(33): Show c.62-371892_62-371879dupGAGAGAGAGAGAGA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359637	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03704.hp2 NA18952.hp1 others(1): Show HG03492.hp2 HG03704.hp2 NA18952.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0064 a0001c0001t0004g0075 a0001c0001t0009g0008 others(1): Show a0001c0001t0004g0064 a0001c0001t0004g0075 a0001c0001t0009g0008 a0001c0001t0009g0037	4	115	0.0348	14	c.62- others(33): Show c.62-366868_62-366855dupATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85371677	G G	GTGTGTAT others(7): Show GTGTGTATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0132 a0001c0001t0025g0132	1	92	0.0109	14	c.62- others(33): Show c.62-354844_62-354843insGTGTATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar

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