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
CMTM8_chr3_32233680_32375321	32361286	G G	GTTTTTTT others(16): Show GTTTTTTTTTTGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp1 HG00642.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0234 a0001c0001t0001g0031 a0001c0001t0001g0234	2	56	0.0357	23	c.321 others(40): Show c.321+3749_321+3750insTGTTTTTTTTTTTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMYA5_chr5_79684836_79805222	79688942	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02615.hp2 HG02717.hp1 others(2): Show HG02486.hp2 HG02615.hp2 HG02717.hp1 HG02896.hp1 HG03225.hp2	a0012 a0013 a0023 others(2): Show a0012 a0013 a0023 a0034 a0059	a0012c0015 a0013c0016 a0023c0022 others(2): Show a0012c0015 a0013c0016 a0023c0022 a0034c0044 a0059c0107	a0012c0015t0016 a0013c0016t0007 a0023c0022t0008 others(2): Show a0012c0015t0016 a0013c0016t0007 a0023c0022t0008 a0034c0044t0012 a0059c0107t0004	a0012c0015t0016g0318 a0013c0016t0007g0315 a0023c0022t0008g0025 others(2): Show a0012c0015t0016g0318 a0013c0016t0007g0315 a0023c0022t0008g0025 a0034c0044t0012g0036 a0059c0107t0004g0317	5	46	0.1087	23	c.-96 others(32): Show c.-966_-965insAAAAAAAAAAAAAAAAAAAAAAA	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding		893		chr5	TogoVar
CMYA5_chr5_79684836_79805222	79726909	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0106 a0002c0106	a0002c0106t0007 a0002c0106t0007	a0002c0106t0007g0029 a0002c0106t0007g0029	1	157	0.0064	23	c.150 others(40): Show c.150-2005_150-1983dupTTTTTTTTTTTTTTTTTTTTTTT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	87129069	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03688.hp1 HG02040.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0121 a0001c0001t0001g0060 a0001c0001t0001g0121	2	4	0.5000	23	c.432 others(42): Show c.432-76902_432-76901insAAAAAAAAAAAAAAAAAAAAAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136914	T T	TATTTATA others(16): Show TATTTATATTCTATGTAAATTATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02486.hp1 others(4): Show HG01243.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0007 a0001c0001 a0003c0003 a0005c0007	a0001c0001t0001 a0003c0003t0001 a0005c0007t0002 a0001c0001t0001 a0003c0003t0001 a0005c0007t0002	a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0047 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0081 a0001c0001t0001g0092 a0003c0003t0001g0006 a0005c0007t0002g0144	7	147	0.0476	23	c.432 others(42): Show c.432-69079_432-69078insATTTATATTCTATGTAAATTATA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10			chr8	TogoVar
CNBP_chr3_129162827_129188896	129181239	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0321 a0001c0002t0038g0321	1	5	0.2000	23	c.-15 others(40): Show c.-15+2514_-15+2536dupTTTTTTTTTTTTTTTTTTTTTTT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNBP_chr3_129162827_129188896	129181649	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03942.hp1 HG02486.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0009 a0001c0002t0005 a0001c0002t0009	a0001c0002t0005g0320 a0001c0002t0009g0319 a0001c0002t0005g0320 a0001c0002t0009g0319	2	44	0.0455	23	c.-15 others(40): Show c.-15+2126_-15+2127insTTTTTTTTTTTTTTTTTTTTTTT	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNGA4_chr11_6234089_6249479	6247043	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00738.hp2 others(26): Show HG00140.hp1 HG00558.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp1 HG01515.hp2 HG01891.hp2 HG01993.hp1 HG02015.hp1 HG02273.hp1 HG02622.hp2 HG02717.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp2 HG03834.hp1 NA18964.hp2 NA18967.hp1 NA18986.hp2 NA18989.hp1 NA19010.hp1 NA19012.hp2 NA19055.hp1 NA19076.hp1 NA19078.hp1 NA20805.hp2	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0001 a0007c0009 a0010c0013 a0001c0001 a0007c0009 a0010c0013	a0001c0001t0001 a0007c0009t0001 a0010c0013t0001 a0001c0001t0001 a0007c0009t0001 a0010c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0007c0009t0001g0003 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0007c0009t0001g0003 a0010c0013t0001g0003	29	98	0.2959	23	c.26 others(34): Show c.2634_*2635insAAAAAAAAAAAAAAAAAAAAAAA	CNGA4	ENSG00000132259.13	transcript	ENST00000379936.3	protein_coding		2565		chr11	TogoVar
CNKSR2_chrX_21369418_21659689	21473745	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01243.hp1 HG01884.hp2 others(2): Show HG01071.hp2 HG01243.hp1 HG01884.hp2 HG02809.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 others(2): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020	a0001c0001t0007g0141 a0001c0001t0009g0010 a0001c0001t0017g0017 others(2): Show a0001c0001t0007g0141 a0001c0001t0009g0010 a0001c0001t0017g0017 a0001c0001t0019g0013 a0001c0001t0020g0142	5	111	0.0450	23	c.561 others(40): Show c.561+2957_561+2958insTTTTTTTTTTTTTTTTTTTTTTT	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	5/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR3_chr6_154382515_154515685	154415227	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0156 a0001c0002t0156	a0001c0002t0156g0146 a0001c0002t0156g0146	1	245	0.0041	23	c.946 others(38): Show c.946-805_946-804insAAAAAAAAAAAAAAAAAAAAAAA	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12			chr6	TogoVar
CNKSR3_chr6_154382515_154515685	154415228	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 NA18969.hp1 HG02647.hp1 HG03098.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0194 a0001c0001t0002 a0001c0001t0011 a0001c0001t0194	a0001c0001t0002g0234 a0001c0001t0011g0269 a0001c0001t0194g0333 a0001c0001t0002g0234 a0001c0001t0011g0269 a0001c0001t0194g0333	3	71	0.0423	23	c.946 others(38): Show c.946-806_946-805insAAAAAAAAAAAAAAAAAAAAAAA	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12			chr6	TogoVar
CNNM1_chr10_99324356_99399330	99347599	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18963.hp2 HG00642.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0301 a0001c0001t0001g0082 a0001c0001t0001g0301	2	315	0.0063	23	c.157 others(42): Show c.1574-9913_1574-9912insCACACACACACACACACACACAC	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10			chr10	TogoVar
CNNM2_chr10_102913294_103095222	102976611	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0201 a0002c0004t0002g0201	1	35	0.0286	23	c.162 others(44): Show c.1621+56516_1621+56538dupTTTTTTTTTTTTTTTTTTTTTTT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	73	0.0137	23	c.159 others(42): Show c.1596-4968_1596-4967insAAAAAAAAATATATATATATATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT1_chr16_58514951_58634826	58586343	A A	AGGAGAGG others(16): Show AGGAGAGGGAGAGGGGAAGGGGAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0028 a0001c0003t0002g0028	1	305	0.0033	23	c.637 others(38): Show c.637+201_637+202insCTCCCCTTCCCCTCTCCCTCTCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133749	T T	TCTCCACC others(16): Show TCTCCACCTCCCCTCTCTCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	216	0.0046	23	c.-42 others(34): Show c.-4295_-4294insCTCCACCTCCCCTCTCTCCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4012		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133778	T T	TCTCCACC others(16): Show TCTCCACCTCCCCTCTCTCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	202	0.0050	23	c.-42 others(34): Show c.-4266_-4265insCTCCACCTCCCCTCTCTCCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3983		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133778	T T	TCTCCACC others(16): Show TCTCCACCTCCCCTCTCTTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	202	0.0050	23	c.-42 others(34): Show c.-4266_-4265insCTCCACCTCCCCTCTCTTCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3983		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133984	C C	CACCTCCC others(16): Show CACCTCCCCTCCCTCTCTCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 NA18612.hp1 NA19084.hp2 HG02165.hp2 NA18612.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0136 a0001c0002t0001g0001 a0001c0002t0001g0136	3	213	0.0141	23	c.-40 others(34): Show c.-4060_-4059insACCTCCCCTCCCTCTCTCCACCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3777		chr19	TogoVar
CNOT6L_chr4_77708387_77824368	77807276	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19030.hp1 HG02818.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0224 a0001c0001t0005g0208 a0001c0001t0001g0224 a0001c0001t0005g0208	2	74	0.0270	23	c.5+1 others(38): Show c.5+12027_5+12028insTTTTTTTTTTTTTTTTTTTTTTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(16): Show GACACACACACAACACACACACAC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	75	0.0133	23	c.5+2 others(34): Show c.5+254_5+255insGTGTGTGTGTGTTGTGTGTGTGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77819075	C C	CACACACA others(16): Show CACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA19090.hp1 HG03688.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0323 a0001c0001t0001g0324	2	323	0.0062	23	c.5+2 others(34): Show c.5+228_5+229insTGTGTGTGTGTGTGTGTGTGTGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNPY1_chr7_155496129_155551559	155507471	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0009 a0001c0002t0018g0009	1	86	0.0116	23	c.304 others(38): Show c.304-378_304-356dupTTTTTTTTTTTTTTTTTTTTTTT	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	3/4			chr7	TogoVar
CNPY1_chr7_155496129_155551559	155527054	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0371 a0001c0002t0003g0371	1	180	0.0056	23	c.100 others(42): Show c.100-17958_100-17957insAAAGAAAGAAAGAAAGAAAGAAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNPY1_chr7_155496129_155551559	155527055	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0405 a0001c0002t0049g0405	1	414	0.0024	23	c.100 others(42): Show c.100-17959_100-17958insGAAAGAAAGAAAGAAAGAAAGAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNPY4_chr7_100114634_100130508	100121116	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0010 a0003c0003t0001g0010	1	251	0.0040	23	c.119 others(40): Show c.119-1142_119-1141insATATATATATATATATATATTTT	CNPY4	ENSG00000166997.8	transcript	ENST00000262932.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNPY4_chr7_100114634_100130508	100121117	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	363	0.0028	23	c.119 others(40): Show c.119-1142_119-1141insATATATATATATATATATATATA	CNPY4	ENSG00000166997.8	transcript	ENST00000262932.5	protein_coding	1/5			chr7	TogoVar
CNR2_chr1_23865515_23918362	23869244	A A	AAGGAAGG others(16): Show AAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG03098.hp2 HG01069.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0072 a0001c0001t0070 a0001c0001t0072	a0001c0001t0070g0139 a0001c0001t0072g0087 a0001c0001t0070g0139 a0001c0001t0072g0087	2	53	0.0377	23	c.52 others(34): Show c.5290_*5291insCCTTCCTTCCTTCCTTCCTTCCT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding		1270		chr1	TogoVar
CNR2_chr1_23865515_23918362	23897481	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0118 a0001c0001t0012g0118	1	83	0.0120	23	c.-46 others(42): Show c.-46+15764_-46+15765insAAAAAAAAAAAAAAAAAAAAAAA	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNRIP1_chr2_68288010_68324949	68306124	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02109.hp2 HG03098.hp2 others(4): Show HG01517.hp2 HG02109.hp2 HG03098.hp2 HG03130.hp1 HG03486.hp2 HG03834.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 a0001c0001t0001 a0001c0002t0001 a0002c0005t0001	a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0183 others(4): Show a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0002t0001g0269 a0001c0002t0001g0278 a0001c0002t0001g0290 a0002c0005t0001g0263	7	66	0.1061	23	c.330 others(42): Show c.330+11010_330+11032dupTTTTTTTTTTTTTTTTTTTTTTT	CNRIP1	ENSG00000119865.9	transcript	ENST00000263655.4	protein_coding	2/2			chr2	TogoVar
CNST_chr1_246561456_246673595	246642132	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	249	0.0040	23	c.937 others(36): Show c.937+95_937+96insTTTTTTTTTTTTTTTTTTTTTTT	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10			chr1	TogoVar
CNTLN_chr9_17130040_17508923	17312346	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0002 a0010c0012t0002	a0010c0012t0002g0020 a0010c0012t0002g0020	1	216	0.0046	23	c.134 others(42): Show c.1341+3112_1341+3113insATATAATATATATATATATATAT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17312348	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03453.hp2 HG02257.hp1 HG03453.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0002 a0010c0012t0002	a0010c0012t0002g0018 a0010c0012t0002g0019 a0010c0012t0002g0018 a0010c0012t0002g0019	2	216	0.0093	23	c.134 others(42): Show c.1341+3112_1341+3113insATATATAATATATATATATATAT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17352416	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0026 a0026	a0026c0024 a0026c0024	a0026c0024t0003 a0026c0024t0003	a0026c0024t0003g0024 a0026c0024t0003g0024	1	183	0.0055	23	c.188 others(42): Show c.1886+9973_1886+9974insATATATATATATATATATATTTT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17359717	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0139 a0004c0003t0001g0139	1	195	0.0051	23	c.188 others(42): Show c.1887-6895_1887-6894insAAAAAAAAAAAAAAAAAAAAAAA	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17359725	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAACCAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp1 HG03098.hp1 others(12): Show HG00544.hp1 HG00738.hp1 HG03098.hp1 HG03704.hp2 NA18612.hp2 NA18947.hp2 NA18954.hp2 NA18955.hp1 NA18974.hp2 NA18989.hp2 NA19043.hp1 NA19060.hp2 NA19066.hp2 NA19086.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0023 others(1): Show a0001c0001 a0001c0004 a0001c0023 a0001c0028	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0003 a0001c0023t0003 a0001c0028t0004	a0001c0001t0001g0164 a0001c0001t0001g0189 a0001c0001t0001g0190 others(12): Show a0001c0001t0001g0164 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0002g0137 a0001c0001t0002g0204 a0001c0004t0001g0006 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0001g0013 a0001c0004t0003g0003 a0001c0023t0003g0166 a0001c0028t0004g0028	15	71	0.2113	23	c.188 others(42): Show c.1887-6873_1887-6872insCCAAAAAAAAAAAAAAAAAAAAA	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17359725	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAACCAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00735.hp1 others(24): Show HG00621.hp1 HG00621.hp2 HG00735.hp1 HG01192.hp2 HG01433.hp2 HG01928.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02559.hp1 HG03041.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp2 HG03516.hp2 HG04204.hp1 NA18906.hp2 NA18947.hp1 NA18978.hp1 NA18986.hp1 NA19004.hp2 NA19011.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19087.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0008 a0009 a0023	a0001c0001 a0001c0016 a0001c0026 others(5): Show a0001c0001 a0001c0016 a0001c0026 a0003c0002 a0004c0003 a0008c0053 a0009c0009 a0023c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0016t0001 a0001c0026t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0016 a0004c0003t0001 a0008c0053t0002 a0009c0009t0001 a0023c0025t0001	a0001c0001t0001g0082 a0001c0001t0001g0122 a0001c0001t0001g0133 others(24): Show a0001c0001t0001g0082 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0002g0127 a0001c0001t0005g0132 a0001c0001t0007g0175 a0001c0016t0001g0177 a0001c0026t0001g0143 a0003c0002t0001g0051 a0003c0002t0001g0054 a0003c0002t0001g0055 a0003c0002t0001g0058 a0003c0002t0001g0062 a0003c0002t0001g0068 a0003c0002t0001g0071 a0003c0002t0002g0065 a0003c0002t0002g0072 a0003c0002t0002g0074 a0003c0002t0016g0070 a0004c0003t0001g0212 a0008c0053t0002g0004 a0009c0009t0001g0155 a0023c0025t0001g0218	27	83	0.3253	23	c.188 others(42): Show c.1887-6874_1887-6873insCCAAAAAAAAAAAAAAAAAAAAA	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17359727	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0001 a0001c0055t0001	a0001c0055t0001g0021 a0001c0055t0001g0021	1	216	0.0046	23	c.188 others(42): Show c.1887-6873_1887-6872insCAAAACAAAAAAAAAAAAAAAAA	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17359744	A A	ACAAAAAA others(16): Show ACAAAAAAAAAAAAACAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0077 a0006c0007t0002g0077	1	205	0.0049	23	c.188 others(42): Show c.1887-6873_1887-6872insCAAAAAAAAAAAAACAAAAAAAG	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	12/25			chr9	TogoVar
CNTN1_chr12_40687439_41077415	40813038	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01099.hp2 HG02083.hp2 others(18): Show HG00621.hp2 HG01099.hp2 HG02083.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02615.hp1 HG02895.hp1 HG03927.hp2 NA18944.hp1 NA18961.hp2 NA18972.hp1 NA19006.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 a0001c0002t0001 a0001c0002t0003 a0001c0002t0022 a0001c0003t0005 a0001c0005t0002	a0001c0001t0001g0204 a0001c0001t0001g0228 a0001c0001t0004g0114 others(18): Show a0001c0001t0001g0204 a0001c0001t0001g0228 a0001c0001t0004g0114 a0001c0001t0004g0131 a0001c0001t0004g0216 a0001c0001t0006g0135 a0001c0001t0006g0139 a0001c0001t0024g0170 a0001c0002t0001g0034 a0001c0002t0001g0040 a0001c0002t0001g0098 a0001c0002t0001g0136 a0001c0002t0001g0156 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0194 a0001c0002t0003g0075 a0001c0002t0022g0171 a0001c0003t0005g0188 a0001c0005t0002g0172	21	71	0.2958	23	c.-76 others(42): Show c.-76-95319_-76-95318insTTTCTTTCTTTCTTTCTTTCTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23			chr12	TogoVar
CNTN1_chr12_40687439_41077415	40844069	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp2 HG01070.hp2 others(19): Show HG00140.hp1 HG00673.hp2 HG01070.hp2 HG01074.hp1 HG01258.hp2 HG01496.hp2 HG02015.hp2 HG02027.hp2 HG02083.hp1 HG02897.hp2 HG02976.hp1 HG03239.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18988.hp2 NA19006.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0027 a0002c0007t0008	a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 others(19): Show a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0177 a0001c0001t0001g0208 a0001c0001t0005g0020 a0001c0002t0001g0044 a0001c0002t0001g0088 a0001c0002t0001g0098 a0001c0002t0001g0111 a0001c0002t0001g0124 a0001c0002t0001g0143 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0173 a0001c0002t0001g0205 a0001c0002t0002g0221 a0001c0002t0005g0097 a0001c0002t0010g0126 a0001c0002t0010g0127 a0001c0002t0027g0041 a0002c0007t0008g0123	22	47	0.4681	23	c.-76 others(42): Show c.-76-64272_-76-64271insTTTTTTTTTTTTTTTTTTTTTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40924881	C C	CATATATA others(16): Show CATATATATTTAGTTTATAAACAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	96	0.0104	23	c.496 others(38): Show c.496+237_496+238insTTAGTTTATAAACATATATATAT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN4_chr3_2093866_3062959	2282367	C C	CATGCATT others(16): Show CATGCATTTTTTCATTCTCTAGCA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0009 a0009c0012t0009	a0009c0012t0009g0093 a0009c0012t0009g0093	1	116	0.0086	23	c.-14 others(44): Show c.-144-56807_-144-56785dupCATTTTTTCATTCTCTAGCAATG	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2834898	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0104 a0001c0005t0001g0104	1	22	0.0455	23	c.454 others(42): Show c.454+15319_454+15341dupTTTTTTTTTTTTTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2864740	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0003 a0002c0016t0003	a0002c0016t0003g0079 a0002c0016t0003g0079	1	26	0.0385	23	c.455 others(40): Show c.455-1997_455-1996insAAAAAAAAAAAAAAAAAAAAAAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99201351	T T	TTCCTTCC others(16): Show TTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01169.hp2 HG01243.hp1 others(4): Show HG01123.hp1 HG01169.hp2 HG01243.hp1 HG02257.hp1 HG02965.hp1 NA18939.hp2 NA18957.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0003c0011 a0004c0006 a0010c0007	a0001c0001t0003 a0002c0002t0004 a0003c0003t0002 others(4): Show a0001c0001t0003 a0002c0002t0004 a0003c0003t0002 a0003c0011t0019 a0004c0006t0001 a0004c0006t0011 a0010c0007t0023	a0001c0001t0003g0060 a0002c0002t0004g0039 a0003c0003t0002g0002 others(4): Show a0001c0001t0003g0060 a0002c0002t0004g0039 a0003c0003t0002g0002 a0003c0011t0019g0059 a0004c0006t0001g0005 a0004c0006t0011g0033 a0010c0007t0023g0046	7	14	0.5000	23	c.-20 others(46): Show c.-209-123994_-209-123993insCCTTCCTTCCTTCCTTCCTTCC T	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99620027	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAACCAAAAAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01169.hp1 HG01169.hp2 others(13): Show HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp2 HG02258.hp2 HG02602.hp1 HG02895.hp2 HG02976.hp2 HG03471.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006 a0005c0004 a0006c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0002c0002t0004 a0003c0003t0002 a0003c0003t0017 a0004c0006t0001 a0004c0006t0013 a0005c0004t0013 a0006c0005t0001 a0006c0005t0003	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0004g0029 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0004g0029 a0001c0001t0006g0066 a0001c0001t0009g0043 a0001c0001t0012g0018 a0001c0001t0012g0030 a0002c0002t0004g0007 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0017g0065 a0004c0006t0001g0005 a0004c0006t0013g0025 a0005c0004t0013g0050 a0006c0005t0001g0017 a0006c0005t0003g0045	16	56	0.2857	23	c.55+ others(40): Show c.55+63768_55+63769insAAAAACCAAAAAGAAAAAAAAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99727312	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG01169.hp1 others(3): Show HG00738.hp1 HG01123.hp2 HG01169.hp1 HG01934.hp2 HG02004.hp2 HG02735.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0009 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0009 a0002c0002t0003 a0003c0003t0002	a0001c0001t0001g0004 a0001c0001t0009g0043 a0002c0002t0003g0036 others(3): Show a0001c0001t0001g0004 a0001c0001t0009g0043 a0002c0002t0003g0036 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0061	6	23	0.2609	23	c.56- others(40): Show c.56-92210_56-92209insAAAAAAAAAAAAAAAAAAAAAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1280459	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02486.hp2 NA21309.hp1 HG00733.hp2 HG02486.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0011 a0001c0002 a0001c0003 a0002c0011	a0001c0002t0001 a0001c0003t0001 a0002c0011t0001 a0001c0002t0001 a0001c0003t0001 a0002c0011t0001	a0001c0002t0001g0039 a0001c0003t0001g0120 a0002c0011t0001g0007 a0001c0002t0001g0039 a0001c0003t0001g0120 a0002c0011t0001g0007	3	43	0.0698	23	c.454 others(40): Show c.454+1952_454+1974dupTTTTTTTTTTTTTTTTTTTTTTT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1332526	G G	GGAAAGAA others(16): Show GGAAAGAAGGGGCGAGCAAGGAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02965.hp2 HG02145.hp1 HG02965.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0002 a0004c0016t0001g0003 a0004c0016t0001g0002 a0004c0016t0001g0003	2	107	0.0187	23	c.136 others(42): Show c.1364+2594_1364+2595insAGAAGGGGCGAGCAAGGAATGAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr3	TogoVar

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