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
CACNA2D3_chr3_54117552_55079557	54809311	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03130.hp1 HG03130.hp2 HG00099.hp2 HG03130.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0020 a0001c0002t0001g0081 a0001c0003t0001g0112 a0001c0002t0001g0020 a0001c0002t0001g0081 a0001c0003t0001g0112	3	47	0.0638	17	c.138 others(36): Show c.1381-7540_1381-7524dupTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54832011	T T	TCATACAC others(10): Show TCATACACACAGCACACA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19043.hp2 HG02976.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0037 a0001c0001 a0001c0037	a0001c0001t0012 a0001c0037t0004 a0001c0001t0012 a0001c0037t0004	a0001c0001t0012g0063 a0001c0037t0004g0019 a0001c0001t0012g0063 a0001c0037t0004g0019	2	34	0.0588	17	c.139 others(36): Show c.1399-5146_1399-5145insTACACACAGCACACACA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18137084	C C	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02109.hp2 HG02258.hp2 others(1): Show HG00738.hp1 HG02109.hp2 HG02258.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0047 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0047 a0001c0002t0002	a0001c0001t0003g0193 a0001c0001t0007g0188 a0001c0001t0047g0195 others(1): Show a0001c0001t0003g0193 a0001c0001t0007g0188 a0001c0001t0047g0195 a0001c0002t0002g0187	4	30	0.1333	17	c.-36 others(28): Show c.-3653_-3652insTTCCTTCCTTCCTTCCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding		3339		chr10	TogoVar
CACNB2_chr10_18135424_18548557	18150855	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02523.hp1 HG02622.hp2 HG04199.hp2 others(1): Show HG02523.hp1 HG02622.hp2 HG04199.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0002t0005 a0001c0001t0001 a0001c0001t0012 a0001c0002t0005	a0001c0001t0001g0049 a0001c0001t0001g0127 a0001c0001t0012g0029 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0127 a0001c0001t0012g0029 a0001c0002t0005g0057	4	88	0.0455	17	c.121 others(29): Show c.121-19_121-3dupTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18172924	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0200 a0001c0002t0005g0200	1	75	0.0133	17	c.213 others(36): Show c.213+21964_213+21965insTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18307983	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03453.hp1 HG03491.hp1 others(1): Show HG01192.hp2 HG03453.hp1 HG03491.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0020 a0001c0002t0002 others(1): Show a0001c0001t0013 a0001c0001t0020 a0001c0002t0002 a0001c0002t0022	a0001c0001t0013g0003 a0001c0001t0020g0014 a0001c0002t0002g0095 others(1): Show a0001c0001t0013g0003 a0001c0001t0020g0014 a0001c0002t0002g0095 a0001c0002t0022g0104	4	84	0.0476	17	c.214 others(36): Show c.214-93930_214-93914dupTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18407109	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA19002.hp2 NA19084.hp2 HG01257.hp1 NA19002.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0143 a0001c0001t0004g0150 a0001c0001t0004g0158 a0001c0001t0001g0143 a0001c0001t0004g0150 a0001c0001t0004g0158	3	33	0.0909	17	c.333 others(34): Show c.333+5081_333+5097dupTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TTAAAAAA others(10): Show TTAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG01361.hp2 others(12): Show HG00642.hp2 HG01243.hp1 HG01361.hp2 HG02083.hp2 HG02723.hp2 HG02886.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03942.hp2 HG06807.hp2 NA18952.hp1 NA18983.hp1 NA19084.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0030 a0001c0002t0002 a0001c0002t0005 a0001c0002t0024 a0001c0002t0042 a0002c0003t0016	a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0093 others(12): Show a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0093 a0001c0001t0003g0108 a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0008g0063 a0001c0001t0030g0056 a0001c0002t0002g0042 a0001c0002t0002g0062 a0001c0002t0002g0095 a0001c0002t0005g0100 a0001c0002t0024g0015 a0001c0002t0042g0102 a0002c0003t0016g0109	15	80	0.1875	17	c.334 others(36): Show c.334-33937_334-33936insTAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13			chr10	TogoVar
CACNB2_chr10_18135424_18548557	18495582	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02559.hp2 HG02647.hp2 others(1): Show HG01071.hp1 HG02559.hp2 HG02647.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0023 a0001c0001t0035 a0001c0002t0002 others(1): Show a0001c0001t0023 a0001c0001t0035 a0001c0002t0002 a0002c0003t0051	a0001c0001t0023g0071 a0001c0001t0035g0176 a0001c0002t0002g0147 others(1): Show a0001c0001t0023g0071 a0001c0001t0035g0176 a0001c0002t0002g0147 a0002c0003t0051g0024	4	175	0.0229	17	c.334 others(34): Show c.334-2763_334-2762insGTGTGTGGTGTGTGTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18536243	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0120 a0001c0001t0031g0120	1	94	0.0106	17	c.130 others(32): Show c.1302+61_1302+77dupTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18407109	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA19002.hp1 NA19057.hp2 others(1): Show HG01257.hp1 NA19002.hp1 NA19057.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0077 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0077 a0001c0001t0001g0126	4	52	0.0769	17	c.171 others(34): Show c.171+5081_171+5097dupTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TTAAAAAA others(10): Show TTAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01243.hp1 others(24): Show HG00140.hp2 HG00642.hp1 HG01243.hp1 HG01361.hp1 HG02083.hp1 HG02723.hp2 HG02886.hp2 HG03017.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03834.hp1 HG03942.hp1 HG06807.hp1 NA18945.hp1 NA18952.hp2 NA18969.hp1 NA18975.hp2 NA18983.hp2 NA18986.hp1 NA19057.hp2 NA19058.hp1 NA19067.hp1 NA19084.hp2 NA19087.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0020 a0001c0001t0053 a0001c0001t0055 a0001c0002t0002 a0001c0002t0004 a0001c0002t0035 a0001c0002t0042 a0001c0002t0043 a0002c0003t0017	a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0047 others(24): Show a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0096 a0001c0001t0001g0126 a0001c0001t0001g0171 a0001c0001t0001g0281 a0001c0001t0003g0051 a0001c0001t0007g0204 a0001c0001t0014g0122 a0001c0001t0014g0146 a0001c0001t0020g0116 a0001c0001t0053g0088 a0001c0001t0055g0079 a0001c0002t0002g0075 a0001c0002t0002g0084 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0270 a0001c0002t0004g0081 a0001c0002t0004g0227 a0001c0002t0035g0124 a0001c0002t0042g0069 a0001c0002t0043g0186 a0002c0003t0017g0189	27	124	0.2177	17	c.172 others(36): Show c.172-33937_172-33936insTAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12			chr10	TogoVar
CACNB2_chr10_18335709_18548557	18495582	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02559.hp1 others(2): Show HG01070.hp1 HG01071.hp2 HG02559.hp1 HG02647.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0001t0015 a0001c0001t0040 others(2): Show a0001c0001t0005 a0001c0001t0015 a0001c0001t0040 a0001c0002t0002 a0002c0003t0066	a0001c0001t0005g0237 a0001c0001t0015g0020 a0001c0001t0040g0018 others(2): Show a0001c0001t0005g0237 a0001c0001t0015g0020 a0001c0001t0040g0018 a0001c0002t0002g0203 a0002c0003t0066g0185	5	270	0.0185	17	c.172 others(34): Show c.172-2763_172-2762insGTGTGTGGTGTGTGTGT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18536243	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19043.hp1 HG01934.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0058 a0001c0001t0001 a0001c0001t0058	a0001c0001t0001g0223 a0001c0001t0058g0231 a0001c0001t0001g0223 a0001c0001t0058g0231	2	141	0.0142	17	c.114 others(32): Show c.1140+61_1140+77dupTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36625026	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA20300.hp2 HG02622.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0002 a0001c0001t0033	a0001c0001t0002g0079 a0001c0001t0033g0029 a0001c0001t0002g0079 a0001c0001t0033g0029	2	55	0.0364	17	c.212 others(36): Show c.212-37479_212-37478insTTTTTTTTTTTTTTTTT	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703800	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0005 a0001c0001t0041g0005	1	209	0.0048	17	c.-12 others(28): Show c.-1225_-1224insGAGAGAGAGAGAGAGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		49		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703801	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0203 a0001c0001t0103g0203	1	99	0.0101	17	c.-12 others(28): Show c.-1226_-1225insGAGAGAGAGAGAGAGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		50		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703826	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0182 a0001c0001t0085g0182	1	188	0.0053	17	c.-12 others(28): Show c.-1251_-1250insGGGAGAGAGAGAGAGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		75		chr22	TogoVar
CACNG3_chr16_24251335_24367412	24252666	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG02080.hp1 others(2): Show HG00423.hp1 HG00673.hp2 HG02080.hp1 NA19002.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0201	5	143	0.0350	17	c.-40 others(28): Show c.-4089_-4088insTTTTTTTTTTTTTTTTT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding		3668		chr16	TogoVar
CACNG3_chr16_24251335_24367412	24348356	G G	GTGATCGT others(10): Show GTGATCGTGCCATTGCAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02630.hp2 HG02723.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0226 a0001c0001t0001g0292 a0001c0001t0001g0045 a0001c0001t0001g0226 a0001c0001t0001g0292	3	364	0.0082	17	c.295 others(34): Show c.295+1544_295+1560dupCGTGCCATTGCATTGAT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG6_chr19_53986637_54017666	54017628	C C	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01109.hp2 others(6): Show HG00639.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01346.hp1 HG02738.hp1 HG02965.hp2 NA18962.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0014 a0001c0001 a0006c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0006c0014t0002	a0001c0001t0002g0032 a0001c0001t0003g0045 a0001c0001t0003g0098 others(5): Show a0001c0001t0002g0032 a0001c0001t0003g0045 a0001c0001t0003g0098 a0001c0001t0004g0003 a0001c0001t0004g0133 a0001c0001t0004g0150 a0001c0001t0020g0117 a0006c0014t0002g0345	9	203	0.0443	17	c.54 others(28): Show c.5439_*5440insTCTCTCTCTCTCTCTCT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		4963		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53946588	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	336	0.0030	17	c.42 others(28): Show c.4295_*4296insTATATATATATTTTTTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		2639		chr19	TogoVar
CACUL1_chr10_118671411_118759970	118700716	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0051 a0001c0001t0030g0051	1	92	0.0109	17	c.796 others(32): Show c.796+573_796+589dupTTTTTTTTTTTTTTTTT	CACUL1	ENSG00000151893.15	transcript	ENST00000369151.8	protein_coding	5/8			chr10	TogoVar
CADM1_chr11_115164236_115509415	115196595	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0151 a0001c0001t0007g0151	1	22	0.0455	17	c.111 others(36): Show c.1111+1794_1111+1810dupTTTTTTTTTTTTTTTTT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	9/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115206758	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG02647.hp1 others(3): Show HG02257.hp1 HG02622.hp1 HG02647.hp1 NA18952.hp2 NA19058.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0043 others(2): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0043 a0001c0001t0047 a0001c0001t0055	a0001c0001t0005g0050 a0001c0001t0005g0126 a0001c0001t0011g0005 others(3): Show a0001c0001t0005g0050 a0001c0001t0005g0126 a0001c0001t0011g0005 a0001c0001t0043g0135 a0001c0001t0047g0113 a0001c0001t0055g0024	6	9	0.6667	17	c.107 others(36): Show c.1078+2799_1078+2815dupAAAAAAAAAAAAAAAAA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	8/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115340658	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0079 a0001c0001t0017g0079	1	55	0.0182	17	c.125 others(38): Show c.125-100239_125-100238insATATATATATATATATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115413644	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02970.hp2 HG04115.hp1 others(5): Show HG02486.hp1 HG02970.hp2 HG04115.hp1 NA19010.hp1 NA19062.hp2 NA19067.hp2 NA19079.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0041	a0001c0001t0001g0090 a0001c0001t0001g0116 a0001c0001t0001g0154 others(5): Show a0001c0001t0001g0090 a0001c0001t0001g0116 a0001c0001t0001g0154 a0001c0001t0002g0144 a0001c0001t0002g0157 a0001c0001t0007g0054 a0001c0001t0013g0099 a0001c0001t0041g0108	8	127	0.0630	17	c.124 others(36): Show c.124+90626_124+90627insAAAAAAAAAAAAAAAAA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	85034790	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp2 HG02015.hp1 others(3): Show HG01069.hp1 HG01243.hp2 HG02015.hp1 HG04199.hp1 HG04228.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 a0001c0001t0020 a0001c0001t0041	a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0004g0053 others(3): Show a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0004g0053 a0001c0001t0018g0039 a0001c0001t0020g0043 a0001c0001t0041g0056	6	81	0.0741	17	c.61+ others(34): Show c.61+75130_61+75146dupTTTTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85144620	A A	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02451.hp1 HG06807.hp2 HG01175.hp1 HG02451.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0027 a0001c0001t0002 a0001c0001t0014 a0001c0001t0027	a0001c0001t0002g0023 a0001c0001t0014g0021 a0001c0001t0027g0022 a0001c0001t0002g0023 a0001c0001t0014g0021 a0001c0001t0027g0022	3	34	0.0882	17	c.61+ others(36): Show c.61+184955_61+184956insAGAAAGAAAGAAAGAAA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02895.hp1 HG03195.hp2 HG02257.hp1 HG02895.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0007 a0001c0002t0034 a0001c0003t0006 a0001c0001t0007 a0001c0002t0034 a0001c0003t0006	a0001c0001t0007g0059 a0001c0002t0034g0046 a0001c0003t0006g0028 a0001c0001t0007g0059 a0001c0002t0034g0046 a0001c0003t0006g0028	3	39	0.0769	17	c.62- others(36): Show c.62-366855_62-366854insATATATATATATATATT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	37	0.0270	17	c.62- others(36): Show c.62-366855_62-366854insATATATATATTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85768734	C C	CATATACA others(10): Show CATATACACACATATAGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0026 a0001c0001t0014g0026	1	126	0.0079	17	c.89- others(34): Show c.89-33308_89-33307insCACACATATAGTATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85769229	C C	CATATATA others(10): Show CATATATACATATATAGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02965.hp1 others(1): Show HG02451.hp1 HG02559.hp1 HG02965.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0023 a0001c0001t0008g0013 a0001c0001t0008g0014 others(1): Show a0001c0001t0002g0023 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0141	4	146	0.0274	17	c.89- others(34): Show c.89-32817_89-32816insTATATACATATATAGTA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85855617	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01884.hp1 HG02280.hp1 others(1): Show HG01175.hp2 HG01884.hp1 HG02280.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0030 a0001c0001t0002 a0001c0001t0030	a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0078 others(1): Show a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0078 a0001c0001t0030g0116	4	131	0.0305	17	c.239 others(36): Show c.239-27674_239-27673insTATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	85898955	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0116 a0001c0001t0030g0116	1	75	0.0133	17	c.529 others(36): Show c.529+12629_529+12630insATATATATATATATATT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898956	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03491.hp1 NA18906.hp1 others(1): Show HG01361.hp2 HG03491.hp1 NA18906.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0036 a0001c0001t0001 a0001c0001t0007 a0001c0001t0036	a0001c0001t0001g0049 a0001c0001t0001g0088 a0001c0001t0007g0082 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0088 a0001c0001t0007g0082 a0001c0001t0036g0106	4	110	0.0364	17	c.529 others(36): Show c.529+12629_529+12630insATATATATATATATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	86066332	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp2 HG03927.hp1 others(1): Show HG02630.hp1 HG03195.hp2 HG03927.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0036 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0036 a0001c0002t0034	a0001c0001t0002g0078 a0001c0001t0007g0029 a0001c0001t0036g0106 others(1): Show a0001c0001t0002g0078 a0001c0001t0007g0029 a0001c0001t0036g0106 a0001c0002t0034g0046	4	28	0.1429	17	c.109 others(34): Show c.1097-323_1097-307dupAAAAAAAAAAAAAAAAA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122315298	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	105	0.0095	17	c.48 others(28): Show c.4866_*4867insGAGAGAGAGAGAGAGAG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3112		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122351372	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	14	0.0714	17	c.350 others(36): Show c.3505-5708_3505-5692dupTTTTTTTTTTTTTTTTT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	27/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122508449	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG01243.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0019 a0001c0001t0001g0003 a0001c0002t0001g0019	2	63	0.0317	17	c.154 others(36): Show c.1542+4783_1542+4799dupAAAAAAAAAAAAAAAAA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	9/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62474153	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03130.hp1 HG03516.hp2 HG02895.hp1 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0127 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0127	3	23	0.1304	17	c.347 others(31): Show c.3477+3_3477+19dupAAAAAAAAAAAAAAAAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	24/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62576788	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp2 HG00438.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0115 a0001c0001t0001g0071 a0001c0001t0001g0115	2	67	0.0299	17	c.157 others(36): Show c.1578-5867_1578-5851dupTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	8/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62629762	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	141	0.0071	17	c.132 others(38): Show c.1325+15959_1325+15960insCAAAAAAAAAAAAAAAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	6/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62648691	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01192.hp1 others(4): Show HG00735.hp2 HG01074.hp1 HG01192.hp1 HG02135.hp1 HG02922.hp2 HG02976.hp2 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0008t0001	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0116 others(4): Show a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0116 a0001c0001t0001g0144 a0001c0001t0003g0004 a0001c0002t0001g0056 a0002c0008t0001g0100	7	12	0.5833	17	c.120 others(36): Show c.1203+2155_1203+2156insTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	5/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62748344	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp1 NA18962.hp1 HG03130.hp2 HG03139.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0068 a0001c0001t0001g0135 a0001c0001t0001g0147	3	13	0.2308	17	c.888 others(34): Show c.888+5080_888+5096dupTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	3/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62855091	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	44	0.0227	17	c.441 others(36): Show c.441+19481_441+19497dupAAAAAAAAAAAAAAAAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	1/29			chr3	TogoVar
CAGE1_chr6_7321659_7394742	7343590	C C	CAGTGTTG others(10): Show CAGTGTTGTCTGTAGGAG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	358	0.0028	17	c.237 others(36): Show c.2370-9517_2370-9501dupCTCCTACAGACAACACT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	11/13			chr6	TogoVar
CALB2_chr16_71353723_71395433	71356943	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02976.hp1 HG01167.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0002g0227 a0001c0001t0001g0008 a0001c0001t0002g0227	2	32	0.0625	17	c.-18 others(28): Show c.-1850_-1849insTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding		1779		chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02165.hp1 HG01952.hp1 HG02165.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0022 a0003c0002t0013 a0001c0001t0022 a0003c0002t0013	a0001c0001t0022g0252 a0003c0002t0013g0216 a0001c0001t0022g0252 a0003c0002t0013g0216	2	34	0.0588	17	c.912 others(34): Show c.912+1385_912+1386insATATATATATATATATT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02145.hp2 HG01175.hp2 HG02145.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0012 a0001c0001t0002 a0004c0004t0012	a0001c0001t0002g0281 a0004c0004t0012g0075 a0001c0001t0002g0281 a0004c0004t0012g0075	2	34	0.0588	17	c.912 others(34): Show c.912+1385_912+1386insATATATATATATTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar

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