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
CPAMD8_chr19_16887951_17031810	16894921	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02559.hp1 HG00609.hp2 HG02559.hp1	a0050 a0074 a0050 a0074	a0050c0087 a0074c0179 a0050c0087 a0074c0179	a0050c0087t0001 a0074c0179t0001 a0050c0087t0001 a0074c0179t0001	a0050c0087t0001g0047 a0074c0179t0001g0103 a0050c0087t0001g0047 a0074c0179t0001g0103	2	278	0.0072	18	c.542 others(37): Show c.5426+1237_5426+1254dupGTGTGTGTGTGTGTGTGT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	41/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16987179	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0075 a0075	a0075c0082 a0075c0082	a0075c0082t0001 a0075c0082t0001	a0075c0082t0001g0082 a0075c0082t0001g0082	1	278	0.0036	18	c.139 others(37): Show c.1395+2463_1395+2464insATATATATATTTTTTTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16987179	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0138 a0001c0013t0001g0138	1	278	0.0036	18	c.139 others(37): Show c.1395+2463_1395+2464insATATATATATATATATTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	17031553	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0098 a0098	a0098c0138 a0098c0138	a0098c0138t0002 a0098c0138t0002	a0098c0138t0002g0169 a0098c0138t0002g0169	1	278	0.0036	18	c.-49 others(29): Show c.-4912_-4911insACACACACACACACACAC	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding		4744		chr19	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTATGTAT others(11): Show GTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0367 a0002c0002t0001g0367	1	456	0.0022	18	c.981 others(35): Show c.981+1174_981+1175insGTATATATATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	456	0.0022	18	c.981 others(35): Show c.981+1172_981+1173insGTATATATATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19086.hp2 NA20129.hp1 HG02559.hp2 NA19086.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0289 a0001c0001t0001g0380 a0001c0001t0001g0194 a0001c0001t0001g0289 a0001c0001t0001g0380	3	456	0.0066	18	c.981 others(35): Show c.981+1172_981+1173insGTGTGTGTGTATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TTATATAT others(11): Show TTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0113 a0002c0002t0002g0113	1	330	0.0030	18	c.-31 others(29): Show c.-3149_-3148insTATATATATATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPEB1_chr15_82538201_82652363	82579918	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	354	0.0028	18	c.272 others(35): Show c.272-8404_272-8387dupTTTTTTTTTTTTTTTTTT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB1_chr15_82538201_82652363	82584903	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0214 a0001c0001t0014g0215 a0001c0001t0014g0214 a0001c0001t0014g0215	2	354	0.0057	18	c.272 others(37): Show c.272-13389_272-13372dupAAAAAAAAAAAAAAAAAA	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB1_chr15_82538201_82652363	82606817	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG02970.hp1 others(3): Show HG02723.hp2 HG02896.hp2 HG02970.hp1 HG03041.hp2 HG03209.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0026 a0001c0001t0009 a0001c0001t0015 a0001c0001t0026	a0001c0001t0009g0233 a0001c0001t0009g0234 a0001c0001t0009g0235 others(3): Show a0001c0001t0009g0233 a0001c0001t0009g0234 a0001c0001t0009g0235 a0001c0001t0015g0189 a0001c0001t0015g0236 a0001c0001t0026g0190	6	354	0.0170	18	c.271 others(37): Show c.271+20358_271+20375dupTTTTTTTTTTTTTTTTTT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB3_chr10_92041692_92296078	92048387	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0263 a0001c0001t0038g0263	1	278	0.0036	18	c.38 others(29): Show c.3824_*3825insTGTGTGTGTGTGTGTGAG	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	10/10	3824		chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289718	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03654.hp2 homoSapiens_chm13v2.hp1 HG01496.hp2 HG03654.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0034 a0001c0001t0006 a0001c0001t0034	a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0034g0238 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0034g0238	3	278	0.0108	18	c.-12 others(35): Show c.-12+1207_-12+1208insTTTTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289732	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02258.hp2 HG04184.hp2 HG01099.hp1 HG02258.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012	a0001c0001t0002g0223 a0001c0001t0006g0222 a0001c0001t0012g0224 a0001c0001t0002g0223 a0001c0001t0006g0222 a0001c0001t0012g0224	3	278	0.0108	18	c.-12 others(35): Show c.-12+1193_-12+1194insATTTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289732	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0112 a0001c0001t0009g0112	1	278	0.0036	18	c.-12 others(35): Show c.-12+1193_-12+1194insATATTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289732	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	278	0.0036	18	c.-12 others(35): Show c.-12+1193_-12+1194insATATATTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	121074509	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0009 a0001c0003t0013g0009	1	140	0.0071	18	c.616 others(37): Show c.616+10197_616+10214dupTTTTTTTTTTTTTTTTTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121088763	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG01361.hp2 others(2): Show HG01070.hp2 HG01081.hp2 HG01361.hp2 HG01496.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0017 a0002c0002 a0002c0017	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0017t0001	a0002c0002t0001g0076 a0002c0002t0002g0139 a0002c0002t0004g0133 others(2): Show a0002c0002t0001g0076 a0002c0002t0002g0139 a0002c0002t0004g0133 a0002c0002t0004g0135 a0002c0017t0001g0091	5	140	0.0357	18	c.617 others(35): Show c.617-8924_617-8907dupAAAAAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121093397	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18906.hp2 NA20300.hp1 HG02622.hp1 NA18906.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0010 a0001c0001 a0002c0002 a0006c0010	a0001c0001t0001 a0002c0002t0002 a0006c0010t0002 a0001c0001t0001 a0002c0002t0002 a0006c0010t0002	a0001c0001t0001g0109 a0002c0002t0002g0084 a0006c0010t0002g0111 a0001c0001t0001g0109 a0002c0002t0002g0084 a0006c0010t0002g0111	3	140	0.0214	18	c.617 others(35): Show c.617-4288_617-4271dupCACACACACACACACACA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121116981	C C	CACACACA others(11): Show CACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0016 a0003c0005t0003g0016	1	140	0.0071	18	c.919 others(35): Show c.919-7324_919-7307dupCACATATATATACACACA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121129289	A A	ATATATAT others(11): Show ATATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01975.hp2 HG01978.hp2 others(4): Show HG01884.hp1 HG01975.hp2 HG01978.hp2 HG03041.hp2 HG03453.hp1 NA18979.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 others(1): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0003c0005t0003	a0001c0003t0001g0082 a0001c0003t0003g0004 a0001c0003t0003g0023 others(4): Show a0001c0003t0001g0082 a0001c0003t0003g0004 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0004g0066 a0003c0005t0003g0016 a0003c0005t0003g0017	7	140	0.0500	18	c.140 others(35): Show c.1407+817_1407+818insCACGTATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121129291	A A	ATATATAT others(11): Show ATATATATATATATACACG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0050 a0004c0009t0001g0050	1	140	0.0071	18	c.140 others(35): Show c.1407+819_1408-819insCACGTATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121189760	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00642.hp1 others(5): Show HG00639.hp1 HG00639.hp2 HG00642.hp1 HG02886.hp2 HG02976.hp1 HG03195.hp2 HG03540.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0101 others(5): Show a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0002g0033 a0001c0001t0002g0051 a0001c0001t0002g0138 a0001c0001t0004g0041 a0001c0001t0004g0077	8	140	0.0571	18	c.205 others(39): Show c.2056-46933_2056-46916dupTATATATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121294806	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	140	0.0071	18	c.286 others(35): Show c.2869-618_2869-617insAAAAAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPHXL_chr16_75709131_75731490	75725753	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG01167.hp2 others(12): Show HG00558.hp1 HG00639.hp2 HG01167.hp2 HG01358.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02683.hp1 HG03017.hp2 HG03927.hp1 NA18977.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0049 a0001c0001t0001g0131 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0049 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0179	15	388	0.0387	18	c.25+ others(31): Show c.25+647_25+664dupAAAAAAAAAAAAAAAAAA	CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding	1/2			chr16	TogoVar
CPLANE1_chr5_37101235_37254376	37154459	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0050 a0010c0015t0001g0050	1	268	0.0037	18	c.812 others(35): Show c.8120-484_8120-467dupAAAAAAAAAAAAAAAAAA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	41/52			chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37187060	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02486.hp2 others(3): Show HG01891.hp2 HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02970.hp1 HG03516.hp2	a0007 a0009 a0007 a0009	a0007c0007 a0009c0012 a0009c0046 a0007c0007 a0009c0012 a0009c0046	a0007c0007t0003 a0009c0012t0005 a0009c0046t0005 a0007c0007t0003 a0009c0012t0005 a0009c0046t0005	a0007c0007t0003g0041 a0009c0012t0005g0263 a0009c0012t0005g0264 others(3): Show a0007c0007t0003g0041 a0009c0012t0005g0263 a0009c0012t0005g0264 a0009c0012t0005g0267 a0009c0012t0005g0268 a0009c0046t0005g0265	6	268	0.0224	18	c.408 others(35): Show c.4080+336_4080+353dupTTTTTTTTTTTTTTTTTT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	23/52			chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37245297	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0226 a0006c0008t0001g0226	1	268	0.0037	18	c.337 others(33): Show c.337+164_337+181dupTATATATATATATATATA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	4/52			chr5	TogoVar
CPLX2_chr5_175866578_175889021	175868440	T T	TCTGAACC others(11): Show TCTGAACCCCTCCTCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0003 a0001c0001t0023g0003	1	378	0.0027	18	c.-33 others(29): Show c.-3354_-3353insCTGAACCCCTCCTCCTGC	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		3137		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871410	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0078 a0001c0001t0015g0078	1	378	0.0027	18	c.-38 others(27): Show c.-384_-383insGAGAGAGAGAGAGAGACA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		167		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871411	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0071 a0001c0001t0027g0071	1	378	0.0027	18	c.-38 others(27): Show c.-383_-382insAGAGAGAGAGAGAGAGAC	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		166		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871413	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG03471.hp1 NA18612.hp2 others(2): Show HG02071.hp2 HG03471.hp1 NA18612.hp2 NA18949.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0020 a0001c0001t0002 a0001c0001t0012 a0001c0001t0020	a0001c0001t0002g0002 a0001c0001t0012g0020 a0001c0001t0020g0008 a0001c0001t0002g0002 a0001c0001t0012g0020 a0001c0001t0020g0008	5	378	0.0132	18	c.-38 others(27): Show c.-381_-380insAGAGAGAGAGAGAGAGAC	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		164		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871417	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	378	0.0027	18	c.-37 others(27): Show c.-377_-376insAGAGAGAGAGAGAGAGAC	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		160		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03471.hp2 NA19240.hp1 HG02451.hp2 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0026 a0001c0001t0015 a0001c0001t0016 a0001c0001t0026	a0001c0001t0015g0047 a0001c0001t0016g0008 a0001c0001t0026g0026 a0001c0001t0015g0047 a0001c0001t0016g0008 a0001c0001t0026g0026	3	378	0.0079	18	c.-36 others(27): Show c.-361_-360insAGAGAGAGAGAGAGAGAA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871464	A A	AAAGAGAG others(11): Show AAAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 NA18948.hp1 HG03579.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	2	378	0.0053	18	c.-33 others(27): Show c.-330_-329insAAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		113		chr5	TogoVar
CPLX4_chr18_59290402_59323649	59294521	T T	TTCTAATT others(11): Show TTCTAATTGATCTCGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	18	c.21 others(29): Show c.2176_*2177insGCTCCGAGATCAATTAGA	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding		880		chr18	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TTATATAT others(11): Show TTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0315 a0002c0003t0003g0315	1	340	0.0029	18	c.92 others(29): Show c.9240_*9241insTATATATATATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPM_chr12_68846175_68938171	68847452	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0019 a0002c0003t0019	a0002c0003t0019g0026 a0002c0003t0019g0026	1	340	0.0029	18	c.89 others(29): Show c.8967_*8984dupAAAAAAAAAAAAAAAAAA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3722		chr12	TogoVar
CPNE2_chr16_57087583_57153369	57092564	A A	AGCCGCCG others(11): Show AGCCGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	362	0.0028	18	c.-26 others(27): Show c.-262_-261insGCCGCCGCCGCCGCCGCC	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding		18		chr16	TogoVar
CPNE3_chr8_86509435_86566498	86552962	G G	GCCCCCCC others(11): Show GCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02027.hp2 HG01109.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0242 a0001c0001t0001g0063 a0001c0001t0001g0242	2	340	0.0059	18	c.112 others(37): Show c.1120+1744_1120+1745insCCCCCCCCCCCCCCCCCC	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131700054	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18906.hp2 NA20129.hp2 HG02486.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0011 a0001c0004t0001 a0001c0001t0001 a0001c0001t0011 a0001c0004t0001	a0001c0001t0001g0010 a0001c0001t0011g0093 a0001c0004t0001g0055 a0001c0001t0001g0010 a0001c0001t0011g0093 a0001c0004t0001g0055	3	94	0.0319	18	c.361 others(31): Show c.361-92_361-75dupAAAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131708957	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18522.hp2 NA18960.hp2 HG02258.hp2 NA18522.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0027 a0001c0002t0001g0030 a0001c0003t0001g0005 a0001c0001t0001g0027 a0001c0002t0001g0030 a0001c0003t0001g0005	3	94	0.0319	18	c.361 others(35): Show c.361-8995_361-8978dupATATATATATATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131737115	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	94	0.0106	18	c.181 others(37): Show c.181-13508_181-13491dupAAAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792925	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATCTATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18939.hp1 HG03195.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0014 a0001c0003t0016 a0001c0002t0014 a0001c0003t0016	a0001c0002t0014g0065 a0001c0003t0016g0092 a0001c0002t0014g0065 a0001c0003t0016g0092	2	94	0.0213	18	c.181 others(37): Show c.181-69301_181-69300insTATAGATATACACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792925	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTATCTATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG02922.hp1 HG02257.hp2 HG02622.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 a0001c0003 a0001c0004 a0001c0006	a0001c0003t0001 a0001c0004t0001 a0001c0006t0004 a0001c0003t0001 a0001c0004t0001 a0001c0006t0004	a0001c0003t0001g0014 a0001c0004t0001g0009 a0001c0006t0004g0008 a0001c0003t0001g0014 a0001c0004t0001g0009 a0001c0006t0004g0008	3	94	0.0319	18	c.181 others(37): Show c.181-69301_181-69300insTATAGATACACACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801452	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	94	0.0106	18	c.181 others(37): Show c.181-77828_181-77827insTATATATATATATATACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801452	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0081 a0001c0004t0002g0081	1	94	0.0106	18	c.181 others(37): Show c.181-77828_181-77827insTATATATATATATACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801452	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0017 a0001c0001t0013g0017	1	94	0.0106	18	c.181 others(37): Show c.181-77828_181-77827insTATATACACACACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978478	A A	ATATATAT others(11): Show ATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp2 NA18906.hp1 HG02486.hp2 HG02615.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0074	3	94	0.0319	18	c.-2+ others(35): Show c.-2+56071_-2+56088dupAATATATATAAATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131993472	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	94	0.0106	18	c.-2+ others(35): Show c.-2+41094_-2+41095insTTTTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar

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