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
ECE1_chr1_21212250_21295463	21281191	G G	GAAAACAA others(13): Show GAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0227 a0001c0002t0009g0227	1	304	0.0033	20	c.139 others(37): Show c.139-1879_139-1860dupGTTTTGTTTTGTTTTGTTTT	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	2/18			chr1	TogoVar
ECH1_chr19_38810422_38836794	38819008	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0239 a0002c0002t0002g0239	1	420	0.0024	20	c.350 others(37): Show c.350-1434_350-1433insGCGCGCACACACACACACAC	ECH1	ENSG00000104823.9	transcript	ENST00000221418.9	protein_coding	3/9			chr19	TogoVar
ECHDC3_chr10_11737382_11769070	11742311	G G	GGGGGCGG others(13): Show GGGGGCGGGGCGGGGCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01109.hp2 HG01891.hp1 others(5): Show HG00673.hp2 HG01109.hp2 HG01891.hp1 HG02559.hp1 HG03834.hp1 NA18999.hp1 NA19004.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0008 a0003c0004 a0001c0001 a0002c0008 a0003c0004	a0001c0001t0001 a0002c0008t0009 a0003c0004t0001 a0001c0001t0001 a0002c0008t0009 a0003c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0047 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0137 a0001c0001t0001g0139 a0002c0008t0009g0228 a0003c0004t0001g0014	8	420	0.0191	20	c.-26 others(29): Show c.-266_-265insGGGGCGGGGCGGGGCGTGCC	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		70		chr10	TogoVar
ECHS1_chr10_133357485_133378354	133374361	A A	AGAATTGC others(13): Show AGAATTGCTTGAATCCGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	354	0.0028	20	c.-10 others(31): Show c.-1029_-1028insCTCCCGGATTCAAGCAATTC	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding		1008		chr10	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(13): Show GTTTTTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0132 a0001c0002t0002g0132	1	400	0.0025	20	c.-28 others(37): Show c.-28+3917_-28+3918insAAAAAAAAAACAAAAAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG02165.hp1 others(5): Show HG00280.hp1 HG00735.hp1 HG02165.hp1 HG02486.hp1 HG03209.hp1 HG03471.hp1 NA19043.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0002t0002 a0003c0004t0002 a0001c0001t0001 a0001c0002t0002 a0003c0004t0002	a0001c0001t0001g0059 a0001c0002t0002g0069 a0001c0002t0002g0123 others(5): Show a0001c0001t0001g0059 a0001c0002t0002g0069 a0001c0002t0002g0123 a0001c0002t0002g0124 a0003c0004t0002g0046 a0003c0004t0002g0047 a0003c0004t0002g0053 a0003c0004t0002g0061	8	400	0.0200	20	c.-28 others(37): Show c.-28+3917_-28+3918insAAAAAAAAAAAAAAAAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	400	0.0025	20	c.-28 others(37): Show c.-28+2604_-28+2605insATATATATTTTTTTTTTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	400	0.0025	20	c.-28 others(37): Show c.-28+2604_-28+2605insATATATATATATTTTTTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	400	0.0025	20	c.-28 others(37): Show c.-28+2604_-28+2605insATATATATATATATTTTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG03017.hp2 others(2): Show HG00423.hp2 HG00558.hp1 HG03017.hp2 HG03834.hp2 NA19079.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0024 a0001c0001 a0004c0024	a0001c0001t0001 a0004c0024t0001 a0001c0001t0001 a0004c0024t0001	a0001c0001t0001g0029 a0001c0001t0001g0254 a0001c0001t0001g0256 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0254 a0001c0001t0001g0256 a0004c0024t0001g0255	5	400	0.0125	20	c.-28 others(37): Show c.-28+2604_-28+2605insATATATATATATATATTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECRG4_chr2_106060688_106083155	106071322	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	434	0.0023	20	c.80- others(33): Show c.80-511_80-492dupAAAAAAAAAAAAAAAAAAAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECSCR_chr5_139443560_139467743	139458500	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	369	0.0027	20	c.62- others(33): Show c.62-337_62-318dupTTTTTTTTTTTTTTTTTTTT	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	1/9			chr5	TogoVar
ECSIT_chr19_11500929_11534134	11508383	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02572.hp2 HG02723.hp2 others(1): Show HG01099.hp1 HG02572.hp2 HG02723.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0002g0099	4	312	0.0128	20	c.739 others(35): Show c.739-336_739-335insAAAAAAAAAAAAAAAAAAAA	ECSIT	ENSG00000130159.15	transcript	ENST00000270517.12	protein_coding	4/7			chr19	TogoVar
ECT2L_chr6_138791087_138909070	138864002	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0005 a0005c0024t0005	a0005c0024t0005g0276 a0005c0024t0005g0276	1	326	0.0031	20	c.129 others(37): Show c.1292-986_1292-967dupAAAAAAAAAAAAAAAAAAAA	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138873872	C C	CTCTGTGT others(13): Show CTCTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG03540.hp2 HG02486.hp2 HG02559.hp1 HG03540.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0031 a0001c0001 a0008c0031	a0001c0001t0007 a0001c0001t0008 a0008c0031t0017 a0001c0001t0007 a0001c0001t0008 a0008c0031t0017	a0001c0001t0007g0006 a0001c0001t0008g0250 a0008c0031t0017g0316 a0001c0001t0007g0006 a0001c0001t0008g0250 a0008c0031t0017g0316	3	326	0.0092	20	c.157 others(39): Show c.1579-2599_1579-2598insCTGTGTGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138873890	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18993.hp1 HG01346.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0291 a0001c0003t0002g0100 a0001c0001t0003g0291 a0001c0003t0002g0100	2	326	0.0061	20	c.157 others(39): Show c.1579-2563_1579-2562insATGTGTGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138873894	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp1 HG03098.hp2 HG03453.hp1	a0004 a0017 a0004 a0017	a0004c0006 a0017c0027 a0004c0006 a0017c0027	a0004c0006t0015 a0017c0027t0001 a0004c0006t0015 a0017c0027t0001	a0004c0006t0015g0213 a0017c0027t0001g0005 a0004c0006t0015g0213 a0017c0027t0001g0005	2	326	0.0061	20	c.157 others(39): Show c.1579-2559_1579-2558insATGTGTGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2_chr3_172745726_172826474	172758468	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18993.hp2 NA19067.hp1 others(1): Show NA18968.hp1 NA18993.hp2 NA19067.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0029 a0001c0001t0003g0217 a0001c0001t0003g0218	4	318	0.0126	20	c.487 others(35): Show c.487-495_487-494insCACACACACACACACACACA	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	5/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
EDARADD_chr1_236389286_236489930	236405790	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0053 a0001c0001t0012g0053	1	294	0.0034	20	c.62- others(35): Show c.62-3419_62-3418insCTTTCTTTCTTTCTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405807	T T	TCTTTTCT others(13): Show TCTTTTCTTTCCTTCTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0228 a0002c0002t0006g0228	1	294	0.0034	20	c.62- others(35): Show c.62-3405_62-3404insTCTTTCCTTCTCTTTCCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	294	0.0034	20	c.62- others(35): Show c.62-3339_62-3338insCTTCCTTCCTTCCTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03834.hp2 HG00423.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0136 a0001c0001t0004g0068 a0001c0001t0001g0136 a0001c0001t0004g0068	2	294	0.0068	20	c.62- others(35): Show c.62-3339_62-3338insCTTCCTTCCTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18951.hp2 NA19004.hp2 others(5): Show HG00673.hp2 NA18951.hp2 NA19004.hp2 NA19007.hp1 NA19062.hp2 NA19074.hp1 NA19074.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0005 a0001c0005t0005 a0001c0008t0001	a0001c0001t0001g0061 a0001c0001t0002g0071 a0001c0001t0002g0072 others(5): Show a0001c0001t0001g0061 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0003t0001g0015 a0001c0003t0001g0023 a0001c0004t0005g0074 a0001c0005t0005g0005 a0001c0008t0001g0065	8	294	0.0272	20	c.62- others(35): Show c.62-3339_62-3338insCTTCCTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(13): Show CTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02738.hp1 HG00741.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0158 a0001c0003t0004g0028 a0001c0001t0001g0158 a0001c0003t0004g0028	2	294	0.0068	20	c.62- others(35): Show c.62-3339_62-3338insCTTCTTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	294	0.0034	20	c.62- others(35): Show c.62-3309_62-3290dupTTCTTTCTTTCTTTCTTTCT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236445234	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18967.hp1 NA18970.hp1 HG02027.hp2 NA18967.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0002 a0001c0004t0005 a0001c0001t0001 a0001c0003t0002 a0001c0004t0005	a0001c0001t0001g0095 a0001c0003t0002g0038 a0001c0004t0005g0092 a0001c0001t0001g0095 a0001c0003t0002g0038 a0001c0004t0005g0092	3	294	0.0102	20	c.219 others(39): Show c.219+17795_219+17796insTTTTTTTTTTTTTTTTTTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447170	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19060.hp1 NA18980.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0050 a0001c0001t0004g0069 a0001c0001t0001g0050 a0001c0001t0004g0069	2	294	0.0068	20	c.219 others(39): Show c.219+19755_219+19774dupTTTCTTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447224	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG04204.hp2 HG03490.hp2 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0001 a0001c0001t0013 a0002c0002t0001	a0001c0001t0013g0078 a0002c0002t0001g0263 a0001c0001t0013g0078 a0002c0002t0001g0263	2	294	0.0068	20	c.219 others(39): Show c.219+19774_219+19775insTTTCTTTCTTTCTTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5			chr1	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01261.hp1 HG01891.hp1 others(28): Show HG00673.hp1 HG01261.hp1 HG01891.hp1 HG01928.hp1 HG01978.hp1 HG02015.hp1 HG02109.hp1 HG02129.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG03195.hp1 HG03540.hp1 NA18612.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18959.hp1 NA18965.hp1 NA18970.hp1 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0020	a0001c0001t0001g0013 a0001c0001t0001g0057 a0001c0001t0001g0059 others(28): Show a0001c0001t0001g0013 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0002g0015 a0001c0001t0002g0105 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0003g0083 a0001c0001t0003g0087 a0001c0001t0003g0148 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0176 a0001c0001t0003g0185 a0001c0001t0003g0195 a0001c0001t0004g0182 a0001c0001t0004g0194 a0001c0001t0011g0134 a0001c0001t0020g0163	31	226	0.1372	20	c.396 others(39): Show c.396+39064_396+39083dupATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69888977	G G	GATAGATA others(13): Show GATAGATAGATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18960.hp1 NA18951.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0185 a0001c0001t0003g0160 a0001c0001t0003g0185	2	226	0.0089	20	c.397 others(39): Show c.397-68050_397-68049insATAGATAGATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDA_chrX_69611113_70044472	69888977	G G	GATAGATA others(13): Show GATAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	226	0.0044	20	c.397 others(39): Show c.397-68050_397-68049insATAGATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDA_chrX_69611113_70044472	69888977	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	226	0.0044	20	c.397 others(39): Show c.397-68050_397-68049insATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDA_chrX_69611113_70044472	69888978	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp2 HG01346.hp2 others(6): Show HG00741.hp1 HG01081.hp2 HG01346.hp2 HG01934.hp1 HG02109.hp1 NA18612.hp1 NA18747.hp1 NA18993.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0104 others(6): Show a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0129 a0001c0001t0001g0150 a0001c0001t0001g0219 a0001c0001t0002g0149 a0001c0001t0003g0083 a0001c0001t0003g0210	9	226	0.0398	20	c.397 others(39): Show c.397-68025_397-68006dupATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDC3_chr15_74625558_74701024	74659487	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp2 HG03209.hp1 others(1): Show HG01243.hp1 HG01255.hp2 HG03209.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0280 a0001c0001t0003g0281 others(1): Show a0001c0001t0003g0276 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282	4	286	0.0140	20	c.485 others(37): Show c.485-3439_485-3420dupATATATATATATATATATAT	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDC3_chr15_74625558_74701024	74659511	T T	TATATATA others(13): Show TATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0284 a0001c0001t0003g0284	1	286	0.0035	20	c.485 others(37): Show c.485-3444_485-3443insCTATATATATATATATATAT	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDC3_chr15_74625558_74701024	74668729	T T	TGAAAGAA others(13): Show TGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01070.hp2 others(25): Show HG00280.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01192.hp2 HG01516.hp2 HG02083.hp1 HG02129.hp1 HG02965.hp1 HG03225.hp1 HG03486.hp2 HG04199.hp2 NA18939.hp1 NA18945.hp2 NA18957.hp2 NA18970.hp1 NA18972.hp2 NA18979.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19074.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0032 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0250 a0001c0001t0002g0174 a0001c0001t0002g0225 a0001c0001t0002g0233 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0003g0283 a0001c0001t0006g0235 a0001c0003t0002g0180	28	286	0.0979	20	c.484 others(37): Show c.484+2706_484+2725dupTTTCTTTCTTTCTTTCTTTC	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDDM13_chr19_56267748_56315454	56302581	C C	CCCTTTTC others(13): Show CCCTTTTCTTCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	396	0.0025	20	c.423 others(35): Show c.423+499_423+500insCCCCCTTCCTTTTCTTCCTC	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDEM3_chr1_184685237_184759858	184720509	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG04115.hp2 HG01891.hp2 HG02055.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0033 a0001c0003t0018 a0001c0003t0035 a0001c0001t0033 a0001c0003t0018 a0001c0003t0035	a0001c0001t0033g0280 a0001c0003t0018g0025 a0001c0003t0035g0281 a0001c0001t0033g0280 a0001c0003t0018g0025 a0001c0003t0035g0281	3	324	0.0093	20	c.951 others(35): Show c.951+779_951+780insAAAAAAAAAAAAAAAAAAAA	EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	9/19			chr1	TogoVar
EDIL3_chr5_83935554_84389880	83970256	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0158 a0001c0001t0020g0158	1	158	0.0063	20	c.113 others(39): Show c.1138-6916_1138-6897dupTATATATATATATATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	83987865	G G	GTGTGTGT others(13): Show GTGTGTGTGTATGTATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG00642.hp2 HG00738.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0007 a0002c0006t0002 a0001c0001t0007 a0002c0006t0002	a0001c0001t0007g0038 a0002c0006t0002g0037 a0001c0001t0007g0038 a0002c0006t0002g0037	2	158	0.0127	20	c.113 others(41): Show c.1138-24506_1138-24505insTATATATACATACACACACA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84027546	T T	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(12): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00639.hp1 HG01106.hp2 HG01261.hp2 HG01361.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03486.hp2 HG03927.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0004t0003 a0001c0004t0010	a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0111 others(12): Show a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0111 a0001c0001t0002g0044 a0001c0001t0002g0117 a0001c0001t0003g0122 a0001c0001t0003g0125 a0001c0001t0003g0136 a0001c0001t0003g0153 a0001c0001t0004g0071 a0001c0001t0007g0108 a0001c0004t0003g0054 a0001c0004t0003g0152 a0001c0004t0010g0156 a0001c0004t0010g0157	15	158	0.0949	20	c.113 others(41): Show c.1137+32734_1137+32753dupTAAAATAAAATAAAATAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84080298	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0150 a0001c0003t0001g0150	1	158	0.0063	20	c.652 others(39): Show c.652-13693_652-13692insTTTTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	6/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84141952	G G	GATCGATC others(13): Show GATCGATCGATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp1 HG00639.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0011 a0001c0001t0004 a0001c0002t0011	a0001c0001t0004g0118 a0001c0002t0011g0001 a0001c0001t0004g0118 a0001c0002t0011g0001	2	158	0.0127	20	c.356 others(37): Show c.356-4599_356-4598insAGATAGATAGATCGATCGAT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84141952	G G	GATCGATC others(13): Show GATCGATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02015.hp1 HG02080.hp1 others(6): Show HG01106.hp1 HG02015.hp1 HG02080.hp1 HG02148.hp1 HG03209.hp2 HG03654.hp2 NA18949.hp2 NA18984.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0056 a0001c0001t0001g0081 a0001c0001t0002g0029 others(6): Show a0001c0001t0001g0056 a0001c0001t0001g0081 a0001c0001t0002g0029 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0002g0130 a0001c0001t0002g0154 a0001c0001t0012g0002 a0001c0002t0001g0112	9	158	0.0570	20	c.356 others(37): Show c.356-4599_356-4598insAGATAGATAGATAGATCGAT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84160744	T T	TCTTTCCT others(13): Show TCTTTCCTTTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0001 a0001c0001t0002 a0001c0001t0018	a0001c0001t0001g0147 a0001c0001t0002g0053 a0001c0001t0018g0050 a0001c0001t0001g0147 a0001c0001t0002g0053 a0001c0001t0018g0050	3	158	0.0190	20	c.355 others(39): Show c.355+19629_355+19648dupGAAAGGAAAGGAAAGGAAAG	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84230763	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02145.hp1 HG01256.hp2 HG01258.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0004g0124 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0004g0124	3	158	0.0190	20	c.197 others(35): Show c.197-899_197-880dupCACACACACACACACACACA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG01256.hp2 others(8): Show HG00140.hp2 HG01109.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG02015.hp2 HG02145.hp1 HG03209.hp2 HG03654.hp1 NA18949.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0002t0002	a0001c0001t0001g0028 a0001c0001t0001g0090 a0001c0001t0001g0091 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0046 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0003g0063 a0001c0001t0003g0077 a0001c0001t0004g0124 a0001c0001t0020g0158 a0001c0002t0002g0093	11	158	0.0696	20	c.196 others(37): Show c.196+1571_196+1590dupTTTTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84256148	C C	CTATCTAT others(13): Show CTATCTATCTATCTATCATCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01070.hp2 HG01123.hp1 others(3): Show HG00423.hp2 HG01070.hp2 HG01123.hp1 HG01358.hp2 HG01993.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0069 a0001c0001t0002g0127 a0001c0001t0002g0130 others(3): Show a0001c0001t0001g0069 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0003g0133 a0001c0001t0004g0128	6	158	0.0380	20	c.68- others(35): Show c.68-1937_68-1936insAGATGATAGATAGATAGATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84371319	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18944.hp2 HG01167.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0120 a0001c0001t0005g0107 a0001c0001t0001g0120 a0001c0001t0005g0107	2	158	0.0127	20	c.67+ others(37): Show c.67+12969_67+12988dupTATATATATATATATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84385862	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02451.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0053 a0001c0001t0018g0050 a0001c0001t0002g0053 a0001c0001t0018g0050	2	158	0.0127	20	c.-14 others(31): Show c.-1489_-1488insAAAAAAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding		983		chr5	TogoVar

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