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
ERC1_chr12_986223_1500931	1122373	G G	GTCTCTAT others(15): Show GTCTCTATCTCTATCTATCTCTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0026 a0001c0001t0118g0026	1	162	0.0062	22	c.156 others(41): Show c.1569+6355_1569+6356insATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122373	G G	GTCTCTAT others(15): Show GTCTCTATCTCTATCTCTATCTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02602.hp1 NA18966.hp1 HG00741.hp2 HG02602.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0109 a0001c0001t0121 a0001c0001t0103 a0001c0001t0109 a0001c0001t0121	a0001c0001t0103g0132 a0001c0001t0109g0014 a0001c0001t0121g0011 a0001c0001t0103g0132 a0001c0001t0109g0014 a0001c0001t0121g0011	3	162	0.0185	22	c.156 others(41): Show c.1569+6361_1569+6362insATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122439	G G	GTCTCTAT others(15): Show GTCTCTATCTCTATCTATCTCTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01257.hp2 HG01981.hp2 HG00738.hp2 HG01257.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114	a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0114g0051 a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0114g0051	3	162	0.0185	22	c.156 others(41): Show c.1569+6421_1569+6422insATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196838	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02818.hp2 HG02886.hp1 others(3): Show HG02602.hp1 HG02818.hp2 HG02886.hp1 HG03516.hp1 NA18966.hp2 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0023 a0001c0001t0034 a0001c0001t0061 others(3): Show a0001c0001t0023 a0001c0001t0034 a0001c0001t0061 a0001c0001t0103 a0002c0002t0047 a0002c0006t0051	a0001c0001t0023g0162 a0001c0001t0034g0161 a0001c0001t0061g0153 others(3): Show a0001c0001t0023g0162 a0001c0001t0034g0161 a0001c0001t0061g0153 a0001c0001t0103g0132 a0002c0002t0047g0104 a0002c0006t0051g0081	6	162	0.0370	22	c.235 others(41): Show c.2351+6791_2351+6792insCTCTCTCTCTCTGTCTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1208957	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	162	0.0062	22	c.235 others(43): Show c.2351+18913_2351+18934dupTTTTTTTTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1216607	A A	AGGAGGGA others(15): Show AGGAGGGATGGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02572.hp2 HG01952.hp2 HG02572.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0057 a0002c0002t0005 a0001c0001t0057 a0002c0002t0005	a0001c0001t0057g0156 a0002c0002t0005g0133 a0001c0001t0057g0156 a0002c0002t0005g0133	2	162	0.0124	22	c.235 others(43): Show c.2352-20148_2352-20147insCGGGGGGGGGAGGGATGGGGGG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1216621	G G	GCGGGGGG others(15): Show GCGGGGGGGGAGGGATGGGGGGT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0092 a0001c0003t0092	a0001c0003t0092g0004 a0001c0003t0092g0004	1	162	0.0062	22	c.235 others(43): Show c.2352-20148_2352-20147insCGGGGGGGGAGGGATGGGGGGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1255621	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0117 a0002c0002t0018g0117	1	162	0.0062	22	c.248 others(41): Show c.2488-7405_2488-7384dupTTTTTTTTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1353069	C C	CACTCAGG others(15): Show CACTCAGGCTGGAGTGCAGTGGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp1 HG03195.hp2 HG01081.hp1 HG01891.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0074 a0002c0002t0099 a0001c0001t0005 a0001c0001t0074 a0002c0002t0099	a0001c0001t0005g0041 a0001c0001t0074g0039 a0002c0002t0099g0131 a0001c0001t0005g0041 a0001c0001t0074g0039 a0002c0002t0099g0131	3	162	0.0185	22	c.278 others(43): Show c.2781-18763_2781-18742dupACTCAGGCTGGAGTGCAGTGGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1402614	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0037	a0002c0002t0037g0042 a0002c0002t0037g0042	1	162	0.0062	22	c.292 others(41): Show c.2926-5525_2926-5504dupCACACACACACACACACACACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1463697	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01952.hp2 HG02970.hp1 others(1): Show HG01891.hp2 HG01952.hp2 HG02970.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0057 a0002c0002t0048 a0001c0001t0004 a0001c0001t0057 a0002c0002t0048	a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0057g0156 others(1): Show a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0057g0156 a0002c0002t0048g0070	4	162	0.0247	22	c.321 others(43): Show c.3213+18961_3213+18982dupGTGTGTGTGTGTGTGTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493544	A A	AATATATA others(15): Show AATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0118 a0001c0001t0031g0118	1	162	0.0062	22	c.33 others(33): Show c.3315_*3316insTATATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3316	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0046 a0001c0001t0087g0046	1	162	0.0062	22	c.33 others(33): Show c.3319_*3320insAAAATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3320	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0157 a0001c0001t0049g0157	1	162	0.0062	22	c.33 others(33): Show c.3319_*3320insAATATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3320	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	56313001	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	74	0.0135	22	c.658 others(41): Show c.658-16588_658-16567dupATATATATATATATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERCC1_chr19_45402334_45428917	45410565	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp1 HG02698.hp2 others(6): Show HG00738.hp1 HG01261.hp1 HG02698.hp2 HG02886.hp2 HG03516.hp2 NA18982.hp1 NA19009.hp1 NA19089.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0019	a0001c0001t0001g0288 a0001c0001t0003g0028 a0001c0001t0003g0030 others(4): Show a0001c0001t0001g0288 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0140 a0001c0001t0004g0131 a0001c0001t0006g0209 a0001c0001t0019g0150	9	420	0.0214	22	c.844 others(37): Show c.844-862_844-841dupCACACACACACACACACACACA	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC2_chr19_45344837_45375573	45372147	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG02886.hp1 others(6): Show HG02647.hp2 HG02723.hp1 HG02886.hp1 HG03225.hp2 NA18961.hp2 NA18989.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0025 a0001c0001t0001 a0001c0001t0004 a0001c0001t0025	a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0104 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0025g0123	9	412	0.0218	22	c.-16 others(33): Show c.-1608_-1607insGCGCACACACACACACACACAC	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		1575		chr19	TogoVar
ERCC5_chr13_102841032_102880995	102864126	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	394	0.0025	22	c.195 others(41): Show c.1954+1042_1954+1063dupCACACACACACACACACACACA	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(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0215 a0001c0001t0019g0215	1	392	0.0026	22	c.788 others(37): Show c.788+564_788+585dupACACACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907838	C C	CACACACA others(15): Show CACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01175.hp2 HG02647.hp2 others(2): Show HG00673.hp1 HG01175.hp2 HG02647.hp2 HG02809.hp2 NA19030.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0005 a0004c0004 a0010c0012 a0001c0005 a0004c0004 a0010c0012	a0001c0005t0009 a0001c0005t0033 a0004c0004t0013 others(1): Show a0001c0005t0009 a0001c0005t0033 a0004c0004t0013 a0010c0012t0020	a0001c0005t0009g0225 a0001c0005t0033g0252 a0004c0004t0013g0234 others(2): Show a0001c0005t0009g0225 a0001c0005t0033g0252 a0004c0004t0013g0234 a0010c0012t0020g0370 a0010c0012t0020g0371	5	392	0.0128	22	c.788 others(37): Show c.788+585_788+586insACAAACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6_chr10_49449470_49544121	49526115	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0138 a0003c0003t0001g0138	1	388	0.0026	22	c.653 others(39): Show c.653-1339_653-1338insTATATATATATATATATATATA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526115	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	402	0.0025	22	c.653 others(39): Show c.653-1339_653-1338insTATATATATATATATATATATA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
EREG_chr4_74360145_74393749	74363493	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02071.hp2 HG02258.hp1 others(9): Show HG01891.hp1 HG02071.hp2 HG02258.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03579.hp1 HG03834.hp1 NA18949.hp2 NA18968.hp1 NA18978.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020	a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0043 others(7): Show a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0043 a0001c0001t0003g0213 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0007g0227 a0001c0001t0018g0230 a0001c0001t0019g0042 a0001c0001t0020g0042	12	358	0.0335	22	c.-18 others(33): Show c.-1816_-1815insTTTTTTTTTTTTTTTTTTTTTT	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding		1651		chr4	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(15): Show ATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	334	0.0030	22	c.83- others(37): Show c.83-3096_83-3095insATATATATATATGTGTGTGTGT	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(15): Show ATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	334	0.0030	22	c.83- others(37): Show c.83-3096_83-3095insATATATATGTGTGTGTGTGTGT	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(15): Show ATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03654.hp2 HG03669.hp1 others(1): Show HG03492.hp2 HG03654.hp2 HG03669.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0274 a0001c0001t0002g0020 a0001c0001t0003g0044 others(1): Show a0001c0001t0001g0274 a0001c0001t0002g0020 a0001c0001t0003g0044 a0001c0001t0017g0260	4	334	0.0120	22	c.83- others(37): Show c.83-3096_83-3095insATATATGTGTGTGTGTGTGTGT	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(15): Show ATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	334	0.0030	22	c.83- others(37): Show c.83-3096_83-3095insATATGTGTGTGTGTGTGTGTGT	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(15): Show ATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0109 a0001c0001t0004g0109	1	334	0.0030	22	c.83- others(37): Show c.83-3096_83-3095insATGTGTGTGTGTGTGTGTGTGT	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(15): Show GTGTGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0028g0088 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0028g0088	3	334	0.0090	22	c.83- others(37): Show c.83-3066_83-3065insGTGTGTGTGTGTGTGTATATAT	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(15): Show GTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18983.hp1 HG02976.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0333 a0001c0001t0002g0152 a0001c0001t0002g0333	2	334	0.0060	22	c.83- others(37): Show c.83-3066_83-3065insGTGTGTGTGTGTGTGTGTATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172903828	C C	CGAACCCT others(15): Show CGAACCCTGGTAGCCTAGGCTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18942.hp1 NA18969.hp2 others(6): Show HG00609.hp2 NA18942.hp1 NA18969.hp2 NA18985.hp1 NA18988.hp1 NA18994.hp1 NA18995.hp2 NA19010.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0162 others(6): Show a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0189 a0001c0001t0001g0252 a0001c0001t0001g0275 a0001c0001t0001g0286 a0001c0001t0001g0290	9	334	0.0270	22	c.156 others(39): Show c.156-5817_156-5796dupTGAACCCTGGTAGCCTAGGCTT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172903968	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	334	0.0030	22	c.156 others(39): Show c.156-5678_156-5677insCACACACACACACACACACACA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC3_chr20_35537078_35562634	35553020	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18999.hp2 HG04115.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0177 a0001c0001t0001g0161 a0001c0001t0001g0177	2	364	0.0055	22	c.686 others(39): Show c.686-2017_686-1996dupTTTTTTTTTTTTTTTTTTTTTT	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(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp1 HG02897.hp2 others(5): Show HG02622.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03195.hp2 HG03486.hp1 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0179 others(5): Show a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0002g0203 a0001c0001t0002g0243 a0001c0001t0002g0244	8	360	0.0222	22	c.389 others(39): Show c.389-3926_389-3925insTATATATATATATATATATATA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	3/9			chr21	TogoVar
ERI3_chr1_44216070_44360257	44259689	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp2 NA19030.hp2 HG02622.hp2 HG03098.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0001t0001g0162 a0001c0001t0001g0204 a0001c0001t0001g0221	3	340	0.0088	22	c.832 others(41): Show c.832-11673_832-11652dupGTGTGTGTGTGTGTGTGTGTGT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342824	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	340	0.0029	22	c.212 others(39): Show c.212-3503_212-3502insTTATATATATATATATATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44357722	T T	TGGGGGAA others(15): Show TGGGGGAAGGGGGGAAGTGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	340	0.0029	22	c.-26 others(33): Show c.-2697_-2696insGCTTCACTTCCCCCCTTCCCCC	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding		2466		chr1	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTG others(15): Show GTTTTTTGTTTTTTTTTTTTGTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	378	0.0027	22	c.169 others(39): Show c.169+7179_169+7180insAACAAAAAAAAAAAACAAAAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTG others(15): Show GTTTTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02698.hp2 HG03834.hp1 others(2): Show HG02683.hp2 HG02698.hp2 HG03834.hp1 HG06807.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0263 a0001c0001t0002g0275 others(2): Show a0001c0001t0002g0256 a0001c0001t0002g0263 a0001c0001t0002g0275 a0001c0001t0002g0289 a0001c0001t0002g0351	5	378	0.0132	22	c.169 others(39): Show c.169+7179_169+7180insAAAAAAAAAAAAAAACAAAAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH2_chr2_170765378_170803977	170767747	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	390	0.0026	22	c.-29 others(33): Show c.-2935_-2934insTATATATATATATATATATATA	ERICH2	ENSG00000204334.8	transcript	ENST00000697325.1	protein_coding		2630		chr2	TogoVar
ERICH6B_chr13_45536294_45620739	45577276	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG03831.hp1 others(3): Show HG00544.hp2 HG00609.hp2 HG03831.hp1 HG04199.hp2 NA18984.hp1 NA19007.hp2	a0004 a0005 a0007 a0004 a0005 a0007	a0004c0004 a0005c0005 a0007c0007 a0004c0004 a0005c0005 a0007c0007	a0004c0004t0001 a0005c0005t0001 a0007c0007t0001 a0004c0004t0001 a0005c0005t0001 a0007c0007t0001	a0004c0004t0001g0084 a0004c0004t0001g0225 a0004c0004t0001g0250 others(3): Show a0004c0004t0001g0084 a0004c0004t0001g0225 a0004c0004t0001g0250 a0005c0005t0001g0139 a0007c0007t0001g0129 a0007c0007t0001g0142	6	326	0.0184	22	c.962 others(39): Show c.962-2368_962-2347dupAAAAAAAAAAAAAAAAAAAAAA	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	7/14			chr13	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02572.hp2 HG02630.hp2 others(1): Show HG01496.hp1 HG02572.hp2 HG02630.hp2 HG02976.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0012 a0004c0013 a0003c0004 a0004c0012 a0004c0013	a0003c0004t0001 a0004c0012t0001 a0004c0013t0001 a0003c0004t0001 a0004c0012t0001 a0004c0013t0001	a0003c0004t0001g0178 a0004c0012t0001g0321 a0004c0013t0001g0313 others(1): Show a0003c0004t0001g0178 a0004c0012t0001g0321 a0004c0013t0001g0313 a0004c0013t0001g0316	4	348	0.0115	22	c.134 others(41): Show c.1343+1691_1343+1692insATATATATATATATATATATAT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13			chr3	TogoVar
ERMN_chr2_157313631_157330824	157324093	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp2 HG02717.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0001c0001t0004 a0002c0002t0004	a0001c0001t0004g0043 a0002c0002t0004g0038 a0001c0001t0004g0043 a0002c0002t0004g0038	2	368	0.0054	22	c.334 others(37): Show c.334+555_334+576dupGTGTGTGTGTGTGTGTGTGTGT	ERMN	ENSG00000136541.15	transcript	ENST00000410096.6	protein_coding	2/2			chr2	TogoVar
ERN1_chr17_64034142_64135144	64119376	G G	GTTGTTTT others(15): Show GTTGTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0008 a0006c0019t0008	a0006c0019t0008g0154 a0006c0019t0008g0154	1	234	0.0043	22	c.54+ others(39): Show c.54+10599_54+10600insAAAAAAAAAAAAAAAAAAACAA	ERN1	ENSG00000178607.17	transcript	ENST00000433197.4	protein_coding	1/21			chr17	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp1 HG01169.hp1 others(8): Show HG00140.hp2 HG01168.hp1 HG01169.hp1 HG01975.hp2 HG02155.hp2 HG02622.hp1 HG03130.hp1 NA18522.hp2 NA19002.hp2 NA19058.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0009 a0003c0004t0001 a0001c0001t0001 a0001c0001t0009 a0003c0004t0001	a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 others(8): Show a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0009g0144 a0001c0001t0009g0145 a0003c0004t0001g0211	11	220	0.0500	22	c.58- others(37): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ERRFI1_chr1_8006727_8031309	8007442	A A	ACTCTCTC others(15): Show ACTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	402	0.0025	22	c.57 others(33): Show c.5746_*5767dupAGAGAGAGAGAGAGAGAGAGAG	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		4284		chr1	TogoVar
ERRFI1_chr1_8006727_8031309	8007479	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	402	0.0025	22	c.57 others(33): Show c.5730_*5731insTATATATATATATATATATATA	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		4247		chr1	TogoVar
ERRFI1_chr1_8006727_8031309	8007481	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	402	0.0025	22	c.57 others(33): Show c.5728_*5729insTAGAGAGAGAGAGAGAGAGAGA	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		4245		chr1	TogoVar
ERVV-2_chr19_53039740_53056680	53044536	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01978.hp1 HG02148.hp2 others(9): Show HG00733.hp1 HG01978.hp1 HG02148.hp2 HG03471.hp2 HG03654.hp2 HG04115.hp1 HG04199.hp1 NA18962.hp2 NA18972.hp2 NA18975.hp1 NA18978.hp1 NA19077.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0002 a0002c0003 a0004c0020 others(1): Show a0001c0002 a0002c0003 a0004c0020 a0010c0018	a0001c0002t0001 a0002c0003t0027 a0004c0020t0001 others(1): Show a0001c0002t0001 a0002c0003t0027 a0004c0020t0001 a0010c0018t0055	a0001c0002t0001g0001 a0001c0002t0001g0008 a0002c0003t0027g0048 others(2): Show a0001c0002t0001g0001 a0001c0002t0001g0008 a0002c0003t0027g0048 a0004c0020t0001g0001 a0010c0018t0055g0040	12	446	0.0269	22	c.-80 others(31): Show c.-808_-807insAAAAAAAAAAAAAAAAAAAAAA	ERVV-2	ENSG00000268964.3	transcript	ENST00000601417.3	protein_coding		203		chr19	TogoVar
ESCO1_chr18_21524284_21605704	21525012	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0194	1	310	0.0032	22	c.53 others(33): Show c.5330_*5331insTATATATATATATATATACACA	ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding		4271		chr18	TogoVar

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