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
CAPZB_chr1_19333775_19490539	19366283	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	195	0.0051	34	c.330 others(51): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT ATATTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATAAATA others(27): Show AATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	195	0.0051	34	c.330 others(51): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT ATTTAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG03098.hp1 others(3): Show HG01069.hp1 HG01069.hp2 HG03098.hp1 HG03209.hp2 NA18747.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0001t0001 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0085 a0001c0001t0001g0223 a0001c0001t0001g0295 others(3): Show a0001c0001t0001g0085 a0001c0001t0001g0223 a0001c0001t0001g0295 a0001c0001t0001g0312 a0001c0001t0006g0198 a0001c0002t0002g0352	6	200	0.0300	34	c.330 others(51): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT ATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366307	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0280 a0001c0002t0003g0280	1	338	0.0030	34	c.330 others(51): Show c.330-8745_330-8744insTTATTTATATATATATATATATATATAT ATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366307	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0351 a0001c0002t0003g0351	1	338	0.0030	34	c.330 others(51): Show c.330-8745_330-8744insTTATATATATATATATATATATATATAT ATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19488774	T T	TACACCCA others(27): Show TACACCCAATAGTTTACATTAGGGTTCACTTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0164 a0001c0001t0013g0164	1	362	0.0028	34	c.-33 others(45): Show c.-3337_-3336insGTATAAGTGAACCCTAATGTAAACTATTGGGTGT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding		3236		chr1	TogoVar
CARD19_chr9_93091217_93118283	93115573	G G	GGGAGGGG others(27): Show GGGAGGGGTGAGAGAGGGAGTGAGGGAGAAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 NA18954.hp2 HG00423.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0007 a0001c0001t0001g0004 a0001c0001t0002g0007	2	356	0.0056	34	c.24 others(45): Show c.2466_*2467insGGAGGGGTGAGAGAGGGAGTGAGGGAGAAGGTGA	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2291		chr9	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0412 a0001c0001t0001g0412	1	100	0.0100	34	c.-7- others(49): Show c.-7-2655_-7-2654insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25313683	G G	GCATATAT others(27): Show GCATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03710.hp1 HG03491.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0022 a0002c0005 a0001c0022 a0002c0005	a0001c0022t0002 a0002c0005t0003 a0001c0022t0002 a0002c0005t0003	a0001c0022t0002g0015 a0002c0005t0003g0080 a0001c0022t0002g0015 a0002c0005t0003g0080	2	111	0.0180	34	c.138 others(53): Show c.138+28774_138+28775insCATATATATATATATATATATATATA TATATATA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459242	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0061 a0001c0015t0002g0061	1	180	0.0056	34	c.615 others(51): Show c.615-6604_615-6603insCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTCTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459268	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	153	0.0065	34	c.615 others(51): Show c.615-6604_615-6603insCTTTCTTTCTTTCTCTCTTTCTTTCTTT CTTTCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS2_chr13_110636417_110711116	110679573	G G	GAGAAAGA others(27): Show GAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp1 HG01071.hp2 others(26): Show HG00621.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01346.hp1 HG01515.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02071.hp2 HG02148.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02735.hp2 HG03669.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18969.hp1 NA18975.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19056.hp1 NA19091.hp2 NA20905.hp1 NA20905.hp2	a0001 a0015 a0001 a0015	a0001c0002 a0001c0019 a0015c0021 a0001c0002 a0001c0019 a0015c0021	a0001c0002t0001 a0001c0002t0002 a0001c0019t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0019t0001 a0015c0021t0001	a0001c0002t0001g0006 a0001c0002t0001g0017 a0001c0002t0001g0064 others(22): Show a0001c0002t0001g0006 a0001c0002t0001g0017 a0001c0002t0001g0064 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0214 a0001c0002t0001g0221 a0001c0002t0002g0019 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0019t0001g0205 a0015c0021t0001g0203	29	104	0.2788	34	c.656 others(51): Show c.656-2471_656-2470insTTCTTTCTCTCTCTCTCTTTCTTTCTTT CTTTCT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110679573	G G	GAGAAAGA others(27): Show GAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03669.hp1 NA18941.hp1 others(7): Show HG00609.hp1 HG03669.hp1 NA18941.hp1 NA18942.hp2 NA18951.hp1 NA18984.hp1 NA19003.hp2 NA19011.hp2 NA19074.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0018 a0001c0002t0001g0061 a0001c0002t0001g0063 others(6): Show a0001c0002t0001g0018 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0197 a0001c0002t0001g0201 a0001c0002t0001g0212 a0001c0007t0001g0189	10	85	0.1176	34	c.656 others(51): Show c.656-2471_656-2470insTTCTTTCTCTCTCTCTCTCTCTTTCTTT CTTTCT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40140357	C C	CACACACA others(27): Show CACACACACCAACACACACACACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	262	0.0038	34	c.-19 others(43): Show c.-192_-191insACACACACCAACACACACACACACACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		179		chr17	TogoVar
CASK_chrX_41509934_41928554	41598134	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0007 a0001c0001t0017g0007	1	144	0.0069	34	c.115 others(53): Show c.1156-8543_1156-8542insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	12/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829706	T T	TATATACA others(27): Show TATATACATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03490.hp1 HG04228.hp1 HG02683.hp1 HG03490.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0159 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0159	3	153	0.0196	34	c.172 others(53): Show c.172+23408_172+23409insGTATATATATATATATATATATATAT ATGTATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASP3_chr4_184622696_184654447	184651290	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	355	0.0028	34	c.-20 others(45): Show c.-2079_-2078insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding		1844		chr4	TogoVar
CASP7_chr10_113674912_113735905	113687344	G G	GTGTATGT others(27): Show GTGTATGTACATGTATACATGTACGTACATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	99	0.0101	34	c.-1+ others(49): Show c.-1+7405_-1+7438dupTGTACATGTATACATGTACGTACATATATA TGTA	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(27): Show AGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG04184.hp1 HG02132.hp2 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0025 a0002c0002t0002 a0002c0002t0025	a0002c0002t0002g0257 a0002c0002t0025g0130 a0002c0002t0002g0257 a0002c0002t0025g0130	2	40	0.0500	34	c.-24 others(53): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAAAAGAAAGAA AGAAAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(27): Show ACACACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03098.hp2 HG01884.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0051 a0001c0001t0009g0049 a0001c0001t0002g0051 a0001c0001t0009g0049	2	88	0.0227	34	c.113 others(49): Show c.113+785_113+786insACACACACACACACACACACTCTCTCTCTC TCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(27): Show ACACACACACACACACACACTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG01243.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0050 a0001c0001t0008g0057 a0001c0001t0001g0050 a0001c0001t0008g0057	2	88	0.0227	34	c.113 others(49): Show c.113+785_113+786insACACACACACACACACACTCTCTCTCTCTC TCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAAAAAGA others(27): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 NA19009.hp1 HG02818.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0144 a0001c0003t0002g0077 a0001c0001t0001g0144 a0001c0003t0002g0077	2	172	0.0116	34	c.52 others(45): Show c.5235_*5236insAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		4814		chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5716259	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0108 a0002c0002t0003g0110 a0002c0002t0003g0108 a0002c0002t0003g0110	2	48	0.0417	34	c.-44 others(45): Show c.-4479_-4478insATATATATATATATATATATATATATATATATAT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		4377		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	46	0.0217	34	c.142 others(53): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATATTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	46	0.0217	34	c.142 others(53): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT TTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18990.hp1 NA18747.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0176 a0001c0001t0003g0156 a0001c0001t0002g0176 a0001c0001t0003g0156	2	120	0.0167	34	c.195 others(51): Show c.195+7707_195+7708insATATATATATATATATATATATATTTTT TTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18950.hp2 HG00140.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0180 a0001c0001t0003g0022 a0001c0001t0002g0180 a0001c0001t0003g0022	2	120	0.0167	34	c.195 others(51): Show c.195+7707_195+7708insATATATATATATATATATATATTTTTTT TTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	119	0.0084	34	c.195 others(51): Show c.195+7707_195+7708insATATATATATATATATATATTTTTTTTT TTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	119	0.0084	34	c.195 others(51): Show c.195+7707_195+7708insATATATATATATATATTTTTTTTTTTTT TTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(27): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	119	0.0084	34	c.195 others(51): Show c.195+7707_195+7708insATATATATATATTTTTTTTTTTTTTTTT TTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV2_chr7_116494738_116513541	116498923	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 NA18970.hp2 NA19058.hp1 HG01496.hp1 NA18970.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	70	0.0429	34	c.-85 others(43): Show c.-859_-858insACACACACACACACACACACACACACACACACAC	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		814		chr7	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19005.hp1 NA19002.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0298 a0001c0001t0001g0259 a0001c0001t0001g0298	2	69	0.0290	34	c.510 others(51): Show c.510+1707_510+1708insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBLB_chr3_105650461_105874012	105663102	T T	TGTTACTT others(27): Show TGTTACTTGAGACCTTCACTATCACAGTTACTGCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03579.hp1 HG02257.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0023 a0001c0023t0023 a0001c0001t0023 a0001c0023t0023	a0001c0001t0023g0303 a0001c0023t0023g0302 a0001c0001t0023g0303 a0001c0023t0023g0302	2	120	0.0167	34	c.269 others(53): Show c.2690-3874_2690-3873insGGCAGTAACTGTGATAGTGAAGGTCT CAAGTAAC	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18			chr3	TogoVar
CCBE1_chr18_59425939_59702423	59573284	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01517.hp1 HG02970.hp2 HG01167.hp1 HG01517.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0019 a0001c0001t0001 a0001c0001t0012 a0001c0001t0019	a0001c0001t0001g0144 a0001c0001t0012g0207 a0001c0001t0019g0097 a0001c0001t0001g0144 a0001c0001t0012g0207 a0001c0001t0019g0097	3	37	0.0811	34	c.213 others(53): Show c.213-93047_213-93046insATATATATATATATATATATATATAT ATATATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59595114	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02970.hp2 HG02615.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0144 a0001c0001t0004g0040 a0001c0001t0001g0144 a0001c0001t0004g0040	2	165	0.0121	34	c.212 others(55): Show c.212+101514_212+101515insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC102B_chr18_68793080_69060189	69009924	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18948.hp1 HG00558.hp1 NA18948.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0062 a0002c0002t0001g0079 a0001c0001t0001g0062 a0002c0002t0001g0079	2	15	0.1333	34	c.126 others(51): Show c.1264-985_1264-984insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC105_chr19_15005726_15028276	15018715	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01981.hp2 HG00642.hp1 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0192 a0002c0002t0001g0002 a0002c0002t0001g0192	2	250	0.0080	34	c.676 others(51): Show c.676-1742_676-1741insATATATATATATATATATATATATATAT ATATAT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC105_chr19_15005726_15028276	15018732	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02148.hp2 HG02300.hp2 others(2): Show HG00323.hp2 HG02148.hp2 HG02300.hp2 HG02622.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0278 a0001c0001t0001g0289 a0001c0001t0001g0296 others(2): Show a0001c0001t0001g0278 a0001c0001t0001g0289 a0001c0001t0001g0296 a0003c0003t0001g0131 a0003c0003t0001g0135	5	300	0.0167	34	c.676 others(51): Show c.676-1729_676-1728insTATATATATATATATATATATATATATA TATATT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar
CCDC105_chr19_15005726_15028276	15025122	G G	GGCTGAGG others(27): Show GGCTGAGGCAGGAGAATCGCTTGAATCCCAGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	438	0.0023	34	c.20 others(45): Show c.2003_*2004insGCTGAGGCAGGAGAATCGCTTGAATCCCAGAGGT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding		1847		chr19	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0009 a0002c0005t0001g0009	1	63	0.0159	34	c.21 others(45): Show c.2159_*2160insAAAAAAAAAAAAAATATATATATATATATATATA	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1839		chr4	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0338 a0002c0005t0001g0338	1	63	0.0159	34	c.21 others(45): Show c.2159_*2160insAAAAAAAAAAAAAAAATATATATATATATATATA	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1839		chr4	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18971.hp1 NA18960.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0258 a0001c0001t0002g0259	2	44	0.0455	34	c.97- others(51): Show c.97-10734_97-10733insATATATATATTTTTTTTTTTTTTTTTTT TTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	43	0.0233	34	c.97- others(51): Show c.97-10734_97-10733insATATATATATATATATTTTTTTTTTTTT TTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG04199.hp2 HG02080.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0248 a0001c0001t0002g0181 a0001c0001t0002g0248	2	44	0.0455	34	c.97- others(51): Show c.97-10734_97-10733insATATATATATATATATATATATTTTTTT TTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp1 HG01884.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0235 a0001c0001t0002g0184 a0001c0001t0002g0235	2	44	0.0455	34	c.97- others(51): Show c.97-10734_97-10733insATATATATATATATATATATATATTTTT TTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	292	0.0034	34	c.346 others(51): Show c.346+1972_346+1973insATATATATATATATATATATATATATAT TTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	292	0.0034	34	c.346 others(51): Show c.346+1972_346+1973insATATATATATATATATATATATATATTT TTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18612.hp1 HG02056.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0191 a0001c0001t0002g0192	2	293	0.0068	34	c.346 others(51): Show c.346+1972_346+1973insATATATATATATATATATATATATTTTT TTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC138_chr2_108781771_108881578	108811247	C C	CTCTTTTT others(27): Show CTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0120 a0003c0003t0001g0120	1	31	0.0323	34	c.856 others(51): Show c.856-1383_856-1382insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC138_chr2_108781771_108881578	108854003	T T	TATATATA others(27): Show TATATATAATATATAATAAATTTATATTATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0111 a0001c0005t0001g0111	1	217	0.0046	34	c.151 others(53): Show c.1517-2780_1517-2747dupTATAATAAATTTATATTATATATAAT ATATAATA	CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr2	TogoVar

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