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
ERCC1_chr19_45402334_45428917	45408062	A A	AAAAAAAA others(13): Show AAAAAAAAAATCAAAAAACCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp1 HG01256.hp1 HG01258.hp2 others(1): Show HG01255.hp1 HG01256.hp1 HG01258.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0024 a0001c0002t0010g0086 a0001c0002t0010g0089 a0001c0002t0010g0024 a0001c0002t0010g0086 a0001c0002t0010g0089	4	420	0.0095	20	c.15 others(31): Show c.1593_*1612dupAGGTTTTTTGATTTTTTTTT	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	10/10	1612		chr19	TogoVar
ERCC1_chr19_45402334_45428917	45410565	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01928.hp2 HG02615.hp2 others(3): Show HG00673.hp1 HG01928.hp2 HG02615.hp2 HG03486.hp2 NA18957.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0065 a0001c0001t0003g0137 a0001c0001t0003g0147 others(3): Show a0001c0001t0003g0065 a0001c0001t0003g0137 a0001c0001t0003g0147 a0001c0001t0003g0158 a0001c0001t0003g0167 a0001c0001t0004g0132	6	420	0.0143	20	c.844 others(35): Show c.844-860_844-841dupCACACACACACACACACACA	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC2_chr19_45344837_45375573	45372147	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03098.hp2 HG02622.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0180 a0001c0001t0013g0181 a0001c0001t0013g0180 a0001c0001t0013g0181	2	412	0.0049	20	c.-16 others(31): Show c.-1608_-1607insGCGCGCGCACACACACACAC	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		1575		chr19	TogoVar
ERCC2_chr19_45344837_45375573	45372147	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01433.hp2 HG02615.hp2 others(2): Show HG00642.hp2 HG01433.hp2 HG02615.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0028 a0001c0001t0001g0064 a0001c0001t0001g0098 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0064 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0007g0135	5	412	0.0121	20	c.-16 others(31): Show c.-1608_-1607insGCGCGCACACACACACACAC	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		1575		chr19	TogoVar
ERCC2_chr19_45344837_45375573	45372147	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03041.hp1 HG03098.hp1 others(10): Show HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 NA18960.hp2 NA18978.hp1 NA18985.hp2 NA18994.hp1 NA18995.hp1 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0026 a0003c0008t0003	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0106 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0145 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0002g0149 a0001c0001t0007g0033 a0001c0001t0011g0295 a0001c0001t0026g0143 a0003c0008t0003g0123	13	412	0.0316	20	c.-16 others(31): Show c.-1608_-1607insGCGCACACACACACACACAC	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		1575		chr19	TogoVar
ERCC2_chr19_45344837_45375573	45375534	A A	ATATTTTA others(13): Show ATATTTTATTTTATTTTATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01070.hp2 HG01071.hp2 others(32): Show HG00733.hp1 HG01070.hp2 HG01071.hp2 HG01433.hp2 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG03098.hp1 HG03130.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG04115.hp1 HG06807.hp1 NA18906.hp2 NA18952.hp1 NA19068.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0016 a0002c0003 others(1): Show a0001c0001 a0001c0016 a0002c0003 a0014c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0039 a0001c0016t0001 a0002c0003t0037 a0014c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0064 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0288 a0001c0001t0002g0120 a0001c0001t0004g0036 a0001c0001t0004g0062 a0001c0001t0004g0173 a0001c0001t0016g0124 a0001c0001t0039g0296 a0001c0016t0001g0176 a0002c0003t0037g0191 a0014c0023t0001g0155	35	412	0.0850	20	c.-49 others(31): Show c.-4995_-4994insAAATAAAATAAAATAAAATA	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		4962		chr19	TogoVar
ERCC5_chr13_102841032_102880995	102864126	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18956.hp2 NA19056.hp2 NA18942.hp2 NA18956.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0035 a0001c0001 a0001c0035	a0001c0001t0001 a0001c0035t0001 a0001c0001t0001 a0001c0035t0001	a0001c0001t0001g0053 a0001c0035t0001g0217 a0001c0001t0001g0053 a0001c0035t0001g0217	3	394	0.0076	20	c.195 others(39): Show c.1954+1044_1954+1063dupCACACACACACACACACACA	ERCC5	ENSG00000134899.24	transcript	ENST00000652225.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
ERCC6L2_chr9_95870691_96023447	95907826	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0214 a0001c0001t0071g0214	1	392	0.0026	20	c.788 others(35): Show c.788+566_788+585dupACACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907836	C C	CACACACA others(13): Show CACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp1 HG02896.hp1 others(1): Show HG02451.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0082 a0001c0001t0001 a0001c0001t0025 a0001c0001t0082	a0001c0001t0001g0095 a0001c0001t0025g0096 a0001c0001t0025g0097 others(1): Show a0001c0001t0001g0095 a0001c0001t0025g0096 a0001c0001t0025g0097 a0001c0001t0082g0098	4	392	0.0102	20	c.788 others(35): Show c.788+584_788+585insAACACACACACACACACACA	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
EREG_chr4_74360145_74393749	74363493	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02895.hp1 HG02897.hp2 HG01167.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0020 a0001c0001t0015g0225 a0001c0001t0015g0226 a0001c0001t0003g0020 a0001c0001t0015g0225 a0001c0001t0015g0226	3	358	0.0084	20	c.-18 others(31): Show c.-1816_-1815insTTTTTTTTTTTTTTTTTTTT	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding		1651		chr4	TogoVar
ERGIC1_chr5_172829251_172957683	172833086	C C	CTGAATGA others(13): Show CTGAATGAATGAATGAATGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	334	0.0030	20	c.-13 others(31): Show c.-1328_-1327insTGAATGAATGAATGAATGAA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding		1164		chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(13): Show ATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp2 NA18985.hp2 HG02622.hp2 HG02886.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0240 a0001c0001t0006g0296 a0001c0001t0001g0001 a0001c0001t0001g0240 a0001c0001t0006g0296	3	334	0.0090	20	c.83- others(35): Show c.83-3096_83-3095insATATATATATATATATGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(13): Show ATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03017.hp2 HG01993.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0301 a0001c0001t0002g0035 a0001c0001t0002g0301	2	334	0.0060	20	c.83- others(35): Show c.83-3096_83-3095insATATATATGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(13): Show ATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01346.hp1 others(4): Show HG00408.hp1 HG00609.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG02486.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0001g0049 a0001c0001t0001g0079 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0001t0001g0287 a0001c0001t0002g0108 a0001c0001t0002g0124 a0001c0001t0004g0046	7	334	0.0210	20	c.83- others(35): Show c.83-3096_83-3095insATATATGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATGT others(13): Show ATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	334	0.0030	20	c.83- others(35): Show c.83-3096_83-3095insATATGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	334	0.0030	20	c.83- others(35): Show c.83-3096_83-3095insATGTGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893935	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	334	0.0030	20	c.83- others(35): Show c.83-3066_83-3065insGTGTGTGTGTATATATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893935	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	334	0.0030	20	c.83- others(35): Show c.83-3066_83-3065insGTGTGTGTGTGTGTATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893935	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	334	0.0030	20	c.83- others(35): Show c.83-3066_83-3065insGTGTGTGTGTGTGTGTATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893935	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG04228.hp1 HG01081.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0257 a0001c0001t0002g0066 a0001c0001t0001g0257 a0001c0001t0002g0066	2	334	0.0060	20	c.83- others(35): Show c.83-3066_83-3065insGTGTGTGTGTGTGTGTGTAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908329	G G	GGAGGTGG others(13): Show GGAGGTGGGGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00639.hp2 others(23): Show HG00140.hp1 HG00280.hp2 HG00639.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01943.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18995.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0115 others(23): Show a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0181 a0001c0001t0001g0229 a0001c0001t0001g0278 a0001c0001t0001g0318 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0138 a0001c0001t0002g0145 a0001c0001t0002g0225 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0003g0015 a0001c0001t0003g0021 a0001c0001t0003g0045 a0001c0001t0003g0101 a0001c0001t0003g0144 a0001c0001t0003g0217 a0001c0001t0003g0236 a0001c0001t0003g0293 a0001c0001t0003g0319 a0001c0001t0005g0292 a0001c0001t0007g0215 a0001c0001t0009g0329	26	334	0.0778	20	c.156 others(37): Show c.156-1337_156-1336insAGGTGGGGGAGGAGGGGGAG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908342	G G	GGGAGGGG others(13): Show GGGAGGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	334	0.0030	20	c.156 others(37): Show c.156-1325_156-1324insGGAGGGGGGGGGAGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC3_chr20_35537078_35562634	35553020	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 NA19074.hp2 HG02809.hp1 HG02895.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0105 a0001c0001t0001g0158 a0001c0001t0001g0159	3	364	0.0082	20	c.686 others(37): Show c.686-2015_686-1996dupTTTTTTTTTTTTTTTTTTTT	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ERG_chr21_38375036_38503477	38407634	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02257.hp2 others(6): Show HG01243.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02818.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0140 others(6): Show a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0140 a0001c0001t0002g0182 a0001c0001t0002g0245 a0001c0001t0002g0322 a0001c0001t0002g0347 a0001c0001t0002g0355 a0001c0001t0029g0233	9	360	0.0250	20	c.389 others(37): Show c.389-3926_389-3925insTATATATATATATATATATA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	3/9			chr21	TogoVar
ERG_chr21_38375036_38503477	38466300	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02970.hp1 HG02280.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0342 a0001c0001t0003g0343	2	360	0.0056	20	c.19- others(37): Show c.19-20699_19-20680dupACACACACACACACACACAC	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	1/9			chr21	TogoVar
ERI1_chr8_8997897_9038338	8999118	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03516.hp1 HG02970.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0032 a0001c0005t0034 a0001c0001t0032 a0001c0005t0034	a0001c0001t0032g0276 a0001c0005t0034g0274 a0001c0001t0032g0276 a0001c0005t0034g0274	2	426	0.0047	20	c.-39 others(31): Show c.-3946_-3945insAAATAAATAAATAAATAAAT	ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding		3778		chr8	TogoVar
ERI1_chr8_8997897_9038338	9024407	C C	CTCTTTTC others(13): Show CTCTTTTCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	426	0.0024	20	c.807 others(37): Show c.807+3954_807+3973dupTCTTTTCTTTTCTTTTCTTT	ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI3_chr1_44216070_44360257	44259689	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03139.hp1 NA18951.hp2 others(1): Show HG02027.hp2 HG03139.hp1 NA18951.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0206	4	340	0.0118	20	c.832 others(39): Show c.832-11671_832-11652dupGTGTGTGTGTGTGTGTGTGT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44259920	T T	TAGATAGA others(13): Show TAGATAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	340	0.0029	20	c.832 others(39): Show c.832-11883_832-11882insGTCTGTCTGTCTGTCTATCT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44259920	T T	TAGATAGA others(13): Show TAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	340	0.0029	20	c.832 others(39): Show c.832-11883_832-11882insGTCTATCTATCTATCTATCT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44272841	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG02895.hp1 others(1): Show HG01243.hp2 HG02723.hp1 HG02895.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 others(1): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226	4	340	0.0118	20	c.831 others(39): Show c.831+11974_831+11993dupATTTTATTTTATTTTATTTT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44310963	G G	GCGCGCGC others(13): Show GCGCGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	340	0.0029	20	c.666 others(37): Show c.666+2205_666+2206insTGTGCGCGCGCGCGCGCGCG	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	5/8			chr1	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	378	0.0027	20	c.169 others(37): Show c.169+7160_169+7179dupAAAAAAAAAAAAAAAAAAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073432	C C	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	442	0.0023	20	c.58+ others(35): Show c.58+8706_58+8707insCTCTCTCTATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073436	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	442	0.0023	20	c.58+ others(35): Show c.58+8728_58+8729insGTATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0370 a0001c0001t0002g0370	1	442	0.0023	20	c.101 others(39): Show c.1013-1302_1013-1301insTCTTTCTTTCTTTCTTTCTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCTTT others(13): Show CTTTCTTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18962.hp1 NA18977.hp2 HG01167.hp2 NA18962.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0183 a0001c0001t0002g0319 a0001c0001t0003g0033 a0001c0001t0002g0183 a0001c0001t0002g0319 a0001c0001t0003g0033	3	442	0.0068	20	c.101 others(39): Show c.1013-1321_1013-1320insTTTCTTTCCTTTCTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 NA18965.hp2 others(2): Show HG00408.hp1 HG00544.hp1 NA18965.hp2 NA19001.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0145 others(2): Show a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0145 a0001c0001t0002g0180 a0001c0001t0002g0393	5	442	0.0113	20	c.101 others(39): Show c.1013-1321_1013-1320insTTTCTTTCTTTCCTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	442	0.0023	20	c.101 others(39): Show c.1013-1321_1013-1320insTTTCTTTCTTTCTTTCCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18963.hp2 NA19087.hp1 HG01175.hp1 NA18963.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0171 a0001c0001t0001g0396 a0001c0001t0001g0017 a0001c0001t0001g0171 a0001c0001t0001g0396	3	442	0.0068	20	c.101 others(39): Show c.1013-1321_1013-1320insTTTCTTTCTTTCTTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091993	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00673.hp1 others(39): Show HG00323.hp1 HG00438.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01175.hp1 HG01255.hp1 HG01358.hp2 HG01433.hp2 HG01884.hp1 HG01934.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02135.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 NA18522.hp1 NA18961.hp1 NA18985.hp2 NA18988.hp2 NA18999.hp2 NA19005.hp2 NA19043.hp2 NA19074.hp1 NA19082.hp1 NA19087.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0003c0003 a0013c0012 a0001c0001 a0003c0003 a0013c0012	a0001c0001t0001 a0001c0001t0002 a0003c0003t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0004 a0013c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0019 others(38): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0272 a0001c0001t0001g0311 a0001c0001t0001g0317 a0001c0001t0001g0337 a0001c0001t0001g0344 a0001c0001t0001g0387 a0001c0001t0001g0396 a0001c0001t0001g0408 a0001c0001t0001g0415 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0270 a0001c0001t0002g0305 a0003c0003t0004g0364 a0003c0003t0004g0367 a0013c0012t0001g0061	42	442	0.0950	20	c.101 others(39): Show c.1013-1215_1013-1196dupCCTTCCTTCCTTCCTTCCTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45577276	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02683.hp2 HG01255.hp2 HG02683.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0200 a0004c0004t0001g0201 a0004c0004t0001g0200 a0004c0004t0001g0201	2	326	0.0061	20	c.962 others(37): Show c.962-2366_962-2347dupAAAAAAAAAAAAAAAAAAAA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	7/14			chr13	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02280.hp1 others(7): Show HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02970.hp2 HG03579.hp1	a0004 a0005 a0008 a0004 a0005 a0008	a0004c0012 a0005c0040 a0008c0009 a0004c0012 a0005c0040 a0008c0009	a0004c0012t0001 a0005c0040t0001 a0008c0009t0001 a0004c0012t0001 a0005c0040t0001 a0008c0009t0001	a0004c0012t0001g0315 a0004c0012t0001g0319 a0004c0012t0001g0322 others(7): Show a0004c0012t0001g0315 a0004c0012t0001g0319 a0004c0012t0001g0322 a0005c0040t0001g0332 a0008c0009t0001g0138 a0008c0009t0001g0139 a0008c0009t0001g0141 a0008c0009t0001g0156 a0008c0009t0001g0157 a0008c0009t0001g0189	10	348	0.0287	20	c.134 others(39): Show c.1343+1691_1343+1692insATATATATATATATATATAT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13			chr3	TogoVar
ERLIN2_chr8_37731634_37763422	37734461	C C	CAGGAAGG others(13): Show CAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG02257.hp1 HG02280.hp1 others(2): Show HG01258.hp1 HG02257.hp1 HG02280.hp1 HG02809.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0001 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0031 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0003g0060 a0001c0001t0017g0035	5	224	0.0223	20	c.-22 others(31): Show c.-2233_-2232insAGGAAGGAAGGAAGGAAGGA	ERLIN2	ENSG00000147475.17	transcript	ENST00000519638.3	protein_coding		2172		chr8	TogoVar
ERMARD_chr6_169746622_169786600	169761673	G G	GGTTTTGT others(13): Show GGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	379	0.0026	20	c.858 others(35): Show c.858-750_858-731dupGTTTTGTTTTGTTTTGTTTT	ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
ERMN_chr2_157313631_157330824	157324093	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 NA19043.hp1 HG02109.hp2 HG02280.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0004 a0002c0002t0004 a0003c0005t0004 a0001c0001t0004 a0002c0002t0004 a0003c0005t0004	a0001c0001t0004g0041 a0002c0002t0004g0037 a0003c0005t0004g0042 a0001c0001t0004g0041 a0002c0002t0004g0037 a0003c0005t0004g0042	3	368	0.0082	20	c.334 others(35): Show c.334+557_334+576dupGTGTGTGTGTGTGTGTGTGT	ERMN	ENSG00000136541.15	transcript	ENST00000410096.6	protein_coding	2/2			chr2	TogoVar
ERN1_chr17_64034142_64135144	64106715	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	234	0.0043	20	c.55- others(35): Show c.55-8494_55-8475dupGTGTGTGTGTGTGTGTGTGT	ERN1	ENSG00000178607.17	transcript	ENST00000433197.4	protein_coding	1/21			chr17	TogoVar
ERO1A_chr14_52634915_52700558	52684118	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0210 a0001c0002t0006g0210	1	398	0.0025	20	c.115 others(35): Show c.115-231_115-212dupGTGTGTGTGTGTGTGTGTGT	ERO1A	ENSG00000197930.13	transcript	ENST00000395686.8	protein_coding	1/15			chr14	TogoVar
ERP44_chr9_99974185_100104000	100017998	C C	CCTAATGC others(13): Show CCTAATGCCAGCTCTGCTACT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02970.hp2 HG02109.hp2 HG02258.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0103 a0001c0001t0003g0001 a0001c0001t0003g0103	3	220	0.0136	20	c.645 others(35): Show c.645+238_645+257dupAGTAGCAGAGCTGGCATTAG	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	7/11			chr9	TogoVar
ERRFI1_chr1_8006727_8031309	8007481	C C	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0080 a0001c0009t0001g0080	1	402	0.0025	20	c.57 others(31): Show c.5728_*5729insTATATATATATAGAGAGAGA	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		4245		chr1	TogoVar

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