Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ERC2_chr3_55503311_56473467	55955248	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19043.hp2 HG02647.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0035 a0001c0001t0007g0002 a0001c0001t0001g0035 a0001c0001t0007g0002	2	74	0.0270	8	c.226 others(27): Show c.2268-4696_2268-4689dupCACACACA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	12/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56023774	T T	TGAAGGAA others(1): Show TGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02486.hp2 HG02630.hp2 others(7): Show HG01109.hp2 HG02486.hp2 HG02630.hp2 HG02809.hp2 HG02970.hp1 HG03540.hp1 HG03540.hp2 NA19043.hp1 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0004t0001	a0001c0001t0001g0013 a0001c0001t0002g0011 a0001c0001t0002g0019 others(7): Show a0001c0001t0001g0013 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0002t0001g0006 a0001c0002t0004g0001 a0001c0004t0001g0028	10	74	0.1351	8	c.164 others(27): Show c.1642-4751_1642-4744dupCTTCCTTC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56032858	G G	GGAAAGAA others(1): Show GGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG03041.hp1 HG01167.hp2 HG01169.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0033 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0001g0033 a0001c0001t0006g0026 a0001c0001t0006g0027	3	74	0.0405	8	c.164 others(29): Show c.1642-13835_1642-13828dupTTTCTTTC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56033030	C C	CAGAAAGA others(1): Show CAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01109.hp2 others(4): Show HG00741.hp2 HG01069.hp2 HG01109.hp2 HG02040.hp2 HG02258.hp2 HG02809.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0002g0005 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0002g0005 a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0058 a0001c0001t0005g0053	7	74	0.0946	8	c.164 others(29): Show c.1642-14007_1642-14000dupTTCTTTCT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56049818	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 NA19030.hp1 HG02630.hp1 HG02647.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001	a0001c0001t0007g0002 a0001c0001t0012g0023 a0001c0002t0001g0042 a0001c0001t0007g0002 a0001c0001t0012g0023 a0001c0002t0001g0042	3	74	0.0405	8	c.164 others(29): Show c.1642-30795_1642-30788dupCACACACA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56051826	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02145.hp2 HG01167.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0066 a0001c0001t0006g0026 a0001c0001t0002g0066 a0001c0001t0006g0026	2	74	0.0270	8	c.164 others(29): Show c.1641+28983_1641+28990dupGTGTGTGT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56103743	G G	GTATCTAT others(1): Show GTATCTATC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp1 HG03834.hp1 others(2): Show HG02723.hp2 HG03130.hp1 HG03834.hp1 HG03834.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012	a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0005g0063 others(2): Show a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0005g0063 a0001c0001t0010g0045 a0001c0001t0012g0023	5	74	0.0676	8	c.147 others(29): Show c.1474-22767_1474-22760dupGATAGATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	6/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56195500	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01934.hp1 others(7): Show HG01109.hp1 HG01167.hp1 HG01934.hp1 HG02723.hp2 HG02809.hp2 HG02970.hp2 HG03130.hp2 HG03225.hp1 HG03834.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0003c0006t0004	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0002g0019 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0002g0019 a0001c0001t0002g0034 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0004g0022 a0001c0001t0005g0063 a0001c0001t0008g0030 a0003c0006t0004g0060	10	74	0.1351	8	c.107 others(29): Show c.1075-21988_1075-21981dupACACACAC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56252757	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp1 HG02738.hp1 others(3): Show HG02258.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0001g0041 a0001c0001t0002g0011 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0041 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0003g0044	6	74	0.0811	8	c.107 others(29): Show c.1074+43254_1074+43261dupTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56313001	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01099.hp1 others(15): Show HG00741.hp1 HG01069.hp2 HG01099.hp1 HG01109.hp1 HG01346.hp1 HG01934.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03195.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 a0002c0003t0003 a0003c0006t0004	a0001c0001t0001g0013 a0001c0001t0001g0038 a0001c0001t0001g0041 others(15): Show a0001c0001t0001g0013 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0002g0008 a0001c0001t0002g0019 a0001c0001t0002g0040 a0001c0001t0002g0049 a0001c0001t0004g0022 a0001c0001t0005g0053 a0001c0001t0005g0063 a0001c0001t0007g0002 a0001c0001t0011g0047 a0001c0002t0001g0014 a0001c0004t0001g0031 a0002c0003t0001g0039 a0002c0003t0003g0025 a0002c0003t0003g0056 a0003c0006t0004g0060	18	74	0.2432	8	c.658 others(27): Show c.658-16574_658-16567dupATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56340535	A A	AGTGAATG others(1): Show AGTGAATGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03098.hp2 HG06807.hp2 HG02965.hp2 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0003 a0001c0002t0002g0016 a0001c0002t0003g0018 a0001c0002t0001g0003 a0001c0002t0002g0016 a0001c0002t0003g0018	3	74	0.0405	8	c.658 others(27): Show c.658-44101_658-44100insACATTCAC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56340542	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01346.hp1 HG01346.hp2 others(5): Show HG00741.hp2 HG01346.hp1 HG01346.hp2 HG02040.hp2 HG02486.hp1 HG02723.hp1 HG02738.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0003t0003	a0001c0001t0001g0062 a0001c0001t0002g0005 a0001c0001t0002g0012 others(5): Show a0001c0001t0001g0062 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0032 a0001c0001t0002g0072 a0001c0001t0003g0051 a0001c0001t0003g0070 a0002c0003t0003g0025	8	74	0.1081	8	c.658 others(27): Show c.658-44115_658-44108dupCACACACA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56363803	A A	AAGGGAGG others(1): Show AAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02630.hp1 HG03098.hp1 others(2): Show HG01071.hp2 HG02630.hp1 HG03098.hp1 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001	a0001c0001t0003g0069 a0001c0001t0007g0024 a0001c0002t0001g0006 others(2): Show a0001c0001t0003g0069 a0001c0001t0007g0024 a0001c0002t0001g0006 a0001c0002t0001g0014 a0001c0002t0001g0042	5	74	0.0676	8	c.658 others(27): Show c.658-67376_658-67369dupCCCTCCCT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56374089	T T	TTTTGTTT others(1): Show TTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA19030.hp1 HG01071.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0069 a0001c0001t0012g0023 a0001c0001t0003g0069 a0001c0001t0012g0023	2	74	0.0270	8	c.657 others(27): Show c.657+60254_657+60261dupCAAACAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56443958	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01346.hp2 others(5): Show HG01069.hp2 HG01071.hp2 HG01346.hp2 HG01934.hp2 HG02145.hp2 HG03710.hp1 HG03831.hp1 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0003t0003	a0001c0001t0001g0059 a0001c0001t0002g0066 a0001c0001t0003g0068 others(5): Show a0001c0001t0001g0059 a0001c0001t0002g0066 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0005g0053 a0001c0001t0005g0071 a0002c0003t0003g0056	8	74	0.1081	8	c.-14 others(27): Show c.-140-8819_-140-8812dupAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	1/17			chr3	TogoVar
ERCC1_chr19_45402334_45428917	45409892	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00738.hp2 others(24): Show HG00140.hp1 HG00639.hp1 HG00738.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG02698.hp2 HG02723.hp1 HG03139.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03710.hp1 HG03834.hp2 HG06807.hp2 NA18966.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0033 others(1): Show a0001c0001t0004 a0001c0001t0021 a0001c0001t0033 a0001c0001t0034	a0001c0001t0004g0007 a0001c0001t0004g0013 a0001c0001t0004g0014 others(14): Show a0001c0001t0004g0007 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0025 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0119 a0001c0001t0004g0127 a0001c0001t0004g0129 a0001c0001t0004g0131 a0001c0001t0004g0162 a0001c0001t0021g0051 a0001c0001t0033g0120 a0001c0001t0034g0121	27	420	0.0643	8	c.844 others(23): Show c.844-168_844-167insAAAAAAAA	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC1_chr19_45402334_45428917	45409895	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02258.hp1 HG03710.hp2 others(3): Show HG01496.hp2 HG02258.hp1 HG03710.hp2 HG04204.hp2 NA18973.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0004 a0001c0002t0004 a0001c0007t0005 a0001c0001t0004 a0001c0002t0004 a0001c0007t0005	a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0133 others(3): Show a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0133 a0001c0002t0004g0083 a0001c0002t0004g0084 a0001c0007t0005g0191	6	420	0.0143	8	c.844 others(23): Show c.844-178_844-171dupAAAAAAAA	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC1_chr19_45402334_45428917	45410565	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01192.hp1 HG01256.hp2 others(9): Show HG01167.hp2 HG01192.hp1 HG01256.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG02698.hp1 HG02818.hp2 HG02965.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 a0001c0001t0001 a0001c0001t0004 a0001c0002t0004	a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0246 others(4): Show a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0004g0007 a0001c0001t0004g0118 a0001c0002t0004g0083	12	420	0.0286	8	c.844 others(23): Show c.844-848_844-841dupCACACACA	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC1_chr19_45402334_45428917	45418822	T T	TCAAACAA others(1): Show TCAAACAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02572.hp1 others(5): Show HG01070.hp2 HG01071.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02886.hp2 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0024 a0001c0001t0006 a0001c0001t0024	a0001c0001t0006g0036 a0001c0001t0006g0189 a0001c0001t0006g0206 others(4): Show a0001c0001t0006g0036 a0001c0001t0006g0189 a0001c0001t0006g0206 a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0024g0112	8	420	0.0191	8	c.525 others(23): Show c.525+268_525+275dupTTTGTTTG	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	5/9			chr19	TogoVar
ERCC1_chr19_45402334_45428917	45422760	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG02970.hp1 others(3): Show HG02109.hp2 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0020 a0001c0001t0009 a0001c0001t0020	a0001c0001t0009g0018 a0001c0001t0009g0047 a0001c0001t0009g0048 others(2): Show a0001c0001t0009g0018 a0001c0001t0009g0047 a0001c0001t0009g0048 a0001c0001t0009g0049 a0001c0001t0020g0050	6	420	0.0143	8	c.105 others(23): Show c.105+502_105+509dupATTTATTT	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	2/9			chr19	TogoVar
ERCC1_chr19_45402334_45428917	45428083	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02809.hp2 HG02970.hp1 others(3): Show HG02109.hp1 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0020 a0001c0001t0026 a0001c0001t0009 a0001c0001t0020 a0001c0001t0026	a0001c0001t0009g0018 a0001c0001t0009g0047 a0001c0001t0009g0049 others(2): Show a0001c0001t0009g0018 a0001c0001t0009g0047 a0001c0001t0009g0049 a0001c0001t0020g0050 a0001c0001t0026g0198	6	420	0.0143	8	c.-43 others(19): Show c.-4318_-4311dupAAAAAAAA	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding		4167		chr19	TogoVar
ERCC2_chr19_45344837_45375573	45372147	T T	TGTGCGCG others(1): Show TGTGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01099.hp1 others(27): Show HG00323.hp1 HG00741.hp2 HG01099.hp1 HG01167.hp1 HG01256.hp2 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG02280.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03139.hp1 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03834.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA20300.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0012 a0013	a0001c0001 a0002c0003 a0004c0004 others(3): Show a0001c0001 a0002c0003 a0004c0004 a0005c0011 a0012c0017 a0013c0018	a0001c0001t0004 a0002c0003t0003 a0002c0003t0005 others(9): Show a0001c0001t0004 a0002c0003t0003 a0002c0003t0005 a0002c0003t0015 a0002c0003t0019 a0002c0003t0022 a0002c0003t0023 a0004c0004t0001 a0004c0004t0002 a0005c0011t0001 a0012c0017t0003 a0013c0018t0017	a0001c0001t0004g0036 a0001c0001t0004g0173 a0002c0003t0003g0003 others(18): Show a0001c0001t0004g0036 a0001c0001t0004g0173 a0002c0003t0003g0003 a0002c0003t0003g0080 a0002c0003t0003g0081 a0002c0003t0003g0089 a0002c0003t0003g0090 a0002c0003t0003g0183 a0002c0003t0005g0011 a0002c0003t0005g0082 a0002c0003t0005g0085 a0002c0003t0005g0086 a0002c0003t0015g0023 a0002c0003t0019g0095 a0002c0003t0022g0083 a0002c0003t0023g0084 a0004c0004t0001g0091 a0004c0004t0002g0013 a0005c0011t0001g0050 a0012c0017t0003g0074 a0013c0018t0017g0068	30	412	0.0728	8	c.-16 others(19): Show c.-1608_-1607insGCGCGCAC	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		1575		chr19	TogoVar
ERCC3_chr2_127252290_127299144	127270018	C C	CTCAATCA others(1): Show CTCAATCAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01516.hp1 HG01517.hp1 others(2): Show HG01261.hp1 HG01516.hp1 HG01517.hp1 HG01952.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0138 a0001c0001t0001g0139 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140	5	350	0.0143	8	c.194 others(27): Show c.1945+1310_1945+1317dupTTGATTGA	ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding	12/14			chr2	TogoVar
ERCC5_chr13_102841032_102880995	102864126	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00609.hp2 others(44): Show HG00558.hp2 HG00609.hp1 HG00609.hp2 HG01167.hp1 HG01192.hp1 HG01358.hp1 HG01884.hp2 HG01975.hp1 HG02132.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03579.hp2 NA18522.hp2 NA18948.hp2 NA18964.hp2 NA18977.hp1 NA18989.hp2 NA18995.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19072.hp1 NA19072.hp2 NA19240.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0012 a0020	a0001c0001 a0001c0003 a0001c0008 others(9): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0002c0004 a0002c0005 a0002c0029 a0006c0010 a0008c0013 a0008c0019 a0012c0014 a0020c0031	a0001c0001t0001 a0001c0001t0005 a0001c0003t0003 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0003 a0001c0008t0002 a0002c0002t0002 a0002c0004t0002 a0002c0004t0009 a0002c0005t0002 a0002c0029t0002 a0006c0010t0002 a0008c0013t0002 a0008c0019t0002 a0012c0014t0002 a0020c0031t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0199 others(31): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0244 a0001c0001t0005g0046 a0001c0001t0005g0249 a0001c0003t0003g0055 a0001c0003t0003g0248 a0001c0008t0002g0049 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0165 a0002c0002t0002g0183 a0002c0004t0002g0008 a0002c0004t0002g0035 a0002c0004t0002g0113 a0002c0004t0002g0116 a0002c0004t0002g0117 a0002c0004t0002g0118 a0002c0004t0002g0119 a0002c0004t0002g0250 a0002c0004t0009g0008 a0002c0005t0002g0024 a0002c0029t0002g0161 a0006c0010t0002g0019 a0008c0013t0002g0023 a0008c0019t0002g0023 a0012c0014t0002g0008 a0020c0031t0001g0223	47	394	0.1193	8	c.195 others(27): Show c.1954+1056_1954+1063dupCACACACA	ERCC5	ENSG00000134899.24	transcript	ENST00000652225.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
ERCC6L2_chr9_95870691_96023447	95899600	A A	ATATGTGT others(1): Show ATATGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG01167.hp2 others(14): Show HG00323.hp2 HG00423.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp2 HG02451.hp2 HG02602.hp1 HG02738.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 NA19056.hp2 NA19074.hp2 NA19078.hp2 NA19081.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0035 others(2): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0035 a0002c0002t0049 a0002c0002t0051	a0002c0002t0003g0014 a0002c0002t0003g0255 a0002c0002t0003g0303 others(13): Show a0002c0002t0003g0014 a0002c0002t0003g0255 a0002c0002t0003g0303 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0318 a0002c0002t0003g0335 a0002c0002t0003g0347 a0002c0002t0003g0358 a0002c0002t0006g0305 a0002c0002t0006g0343 a0002c0002t0006g0359 a0002c0002t0035g0085 a0002c0002t0049g0346 a0002c0002t0051g0314	17	392	0.0434	8	c.594 others(25): Show c.594+1630_594+1631insATGTGTGT	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95899600	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01106.hp1 others(13): Show HG01069.hp2 HG01070.hp1 HG01106.hp1 HG01256.hp2 HG01928.hp2 HG02293.hp1 HG02735.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp2 NA18954.hp2 NA18987.hp2 NA18990.hp1 NA19057.hp1 NA19060.hp2 NA21309.hp2	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0001 a0002c0002 a0018c0019 a0001c0001 a0002c0002 a0018c0019	a0001c0001t0031 a0002c0002t0003 a0002c0002t0007 others(2): Show a0001c0001t0031 a0002c0002t0003 a0002c0002t0007 a0002c0002t0028 a0018c0019t0016	a0001c0001t0031g0110 a0001c0001t0031g0111 a0002c0002t0003g0344 others(12): Show a0001c0001t0031g0110 a0001c0001t0031g0111 a0002c0002t0003g0344 a0002c0002t0003g0345 a0002c0002t0003g0351 a0002c0002t0003g0352 a0002c0002t0003g0353 a0002c0002t0003g0354 a0002c0002t0003g0355 a0002c0002t0003g0356 a0002c0002t0007g0013 a0002c0002t0007g0327 a0002c0002t0007g0328 a0002c0002t0028g0329 a0018c0019t0016g0326	16	392	0.0408	8	c.594 others(25): Show c.594+1654_594+1661dupTGTGTGTG	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95974722	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02109.hp2 HG02258.hp1 others(10): Show HG00609.hp2 HG02109.hp2 HG02258.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 NA18522.hp2 NA18747.hp2 NA18962.hp2 NA19068.hp2 NA19086.hp1	a0003 a0007 a0008 others(1): Show a0003 a0007 a0008 a0010	a0003c0003 a0003c0015 a0007c0008 others(2): Show a0003c0003 a0003c0015 a0007c0008 a0008c0011 a0010c0012	a0003c0003t0021 a0003c0003t0055 a0003c0015t0021 others(4): Show a0003c0003t0021 a0003c0003t0055 a0003c0015t0021 a0007c0008t0023 a0007c0008t0066 a0008c0011t0020 a0010c0012t0020	a0003c0003t0021g0285 a0003c0003t0021g0287 a0003c0003t0021g0289 others(9): Show a0003c0003t0021g0285 a0003c0003t0021g0287 a0003c0003t0021g0289 a0003c0003t0055g0286 a0003c0015t0021g0290 a0007c0008t0023g0293 a0007c0008t0023g0294 a0007c0008t0023g0295 a0007c0008t0066g0296 a0008c0011t0020g0015 a0010c0012t0020g0370 a0010c0012t0020g0371	13	392	0.0332	8	c.333 others(27): Show c.3337+1652_3337+1659dupGTGTGTGT	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L_chrX_72199665_72244027	72210202	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01346.hp2 HG01934.hp1 others(2): Show HG01175.hp2 HG01346.hp2 HG01934.hp1 HG03471.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0177 a0001c0001t0003g0111 a0001c0001t0003g0123 others(2): Show a0001c0001t0001g0177 a0001c0001t0003g0111 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0005g0064	5	286	0.0175	8	c.69- others(23): Show c.69-1512_69-1505dupATTTATTT	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	1/1			chrX	TogoVar
ERCC6_chr10_49449470_49544121	49537502	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02451.hp2 HG02630.hp2 others(4): Show HG01167.hp1 HG02451.hp2 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0029 a0001c0004 a0001c0029	a0001c0004t0001 a0001c0029t0001 a0001c0004t0001 a0001c0029t0001	a0001c0004t0001g0146 a0001c0004t0001g0147 a0001c0004t0001g0148 others(4): Show a0001c0004t0001g0146 a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0004t0001g0149 a0001c0004t0001g0150 a0001c0004t0001g0151 a0001c0029t0001g0152	7	388	0.0180	8	c.-15 others(25): Show c.-15+1459_-15+1460insGTGTGTGT	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	1/20			chr10	TogoVar
ERCC6_chr10_49449470_49544121	49537508	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02896.hp1 HG02897.hp2 HG01433.hp2 HG02896.hp1 HG02897.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0003c0003t0001 a0001c0004t0001 a0003c0003t0001	a0001c0004t0001g0015 a0003c0003t0001g0112 a0001c0004t0001g0015 a0003c0003t0001g0112	3	388	0.0077	8	c.-15 others(25): Show c.-15+1446_-15+1453dupGTGTGTGT	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	1/20			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49537502	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02451.hp1 HG02630.hp1 others(4): Show HG01167.hp1 HG02451.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp1 HG03471.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0017 a0001c0005 a0001c0017	a0001c0005t0003 a0001c0017t0003 a0001c0005t0003 a0001c0017t0003	a0001c0005t0003g0016 a0001c0005t0003g0118 a0001c0005t0003g0119 others(1): Show a0001c0005t0003g0016 a0001c0005t0003g0118 a0001c0005t0003g0119 a0001c0017t0003g0120	7	402	0.0174	8	c.-15 others(25): Show c.-15+1459_-15+1460insGTGTGTGT	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	1/5			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49537508	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02896.hp2 HG02897.hp1 HG01433.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0003 a0001c0001t0001 a0001c0005t0003	a0001c0001t0001g0095 a0001c0005t0003g0045 a0001c0001t0001g0095 a0001c0005t0003g0045	3	402	0.0075	8	c.-15 others(25): Show c.-15+1446_-15+1453dupGTGTGTGT	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	1/5			chr10	TogoVar
ERCC8_chr5_60861454_60950070	60882970	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02922.hp2 others(6): Show HG02630.hp1 HG02809.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0022 others(2): Show a0001c0001t0007 a0001c0001t0015 a0001c0001t0022 a0001c0001t0023 a0001c0001t0084	a0001c0001t0007g0032 a0001c0001t0007g0035 a0001c0001t0015g0260 others(6): Show a0001c0001t0007g0032 a0001c0001t0007g0035 a0001c0001t0015g0260 a0001c0001t0022g0286 a0001c0001t0022g0288 a0001c0001t0022g0290 a0001c0001t0023g0285 a0001c0001t0023g0289 a0001c0001t0084g0287	9	302	0.0298	8	c.112 others(27): Show c.1122+4462_1122+4469dupGTGTGTGT	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	11/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60909243	G G	GAAAAAAA others(1): Show GAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02004.hp1 HG02132.hp2 others(10): Show HG01517.hp2 HG02004.hp1 HG02132.hp2 HG02273.hp1 HG03710.hp1 HG03942.hp1 NA18612.hp1 NA18968.hp1 NA18970.hp1 NA19003.hp2 NA19011.hp1 NA19058.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0030 others(2): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0030 a0001c0001t0031 a0001c0001t0045	a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0240 others(10): Show a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0004g0249 a0001c0001t0004g0267 a0001c0001t0015g0282 a0001c0001t0030g0254 a0001c0001t0031g0239 a0001c0001t0031g0242 a0001c0001t0045g0252	13	302	0.0431	8	c.400 others(25): Show c.400-4378_400-4371dupTTTTTTTT	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	4/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60933938	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG00735.hp2 others(6): Show HG00140.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01928.hp1 HG01981.hp2 HG02004.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0198 others(6): Show a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0294 a0001c0001t0009g0189 a0001c0001t0009g0293	9	302	0.0298	8	c.78- others(23): Show c.78-4987_78-4980dupGTGTGTGT	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	1/11			chr5	TogoVar
EREG_chr4_74360145_74393749	74381984	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02055.hp1 others(4): Show HG01070.hp2 HG01071.hp1 HG02055.hp1 HG02055.hp2 HG02886.hp2 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0016 a0001c0002t0009	a0001c0001t0001g0037 a0001c0001t0001g0154 a0001c0001t0014g0108 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0154 a0001c0001t0014g0108 a0001c0001t0016g0121 a0001c0002t0009g0031	7	358	0.0196	8	c.279 others(23): Show c.279-642_279-635dupAAAAAAAA	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
ERFL_chr19_41902704_41933449	41914850	T T	TGTCTCTC others(1): Show TGTCTCTCC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19004.hp1 NA19058.hp2 NA18973.hp1 NA19004.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0281 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0281	3	330	0.0091	8	c.-13 others(25): Show c.-13-1919_-13-1918insGGAGAGAC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERG28_chr14_75644791_75665876	75656279	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp1 HG02451.hp2 others(3): Show HG01261.hp1 HG01358.hp1 HG02451.hp2 HG02922.hp1 HG03540.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0161	6	420	0.0143	8	c.133 others(25): Show c.133+1083_133+1090dupGTGTGTGT	ERG28	ENSG00000133935.7	transcript	ENST00000256319.7	protein_coding	2/4			chr14	TogoVar
ERGIC1_chr5_172829251_172957683	172833086	C C	CTGAATGA others(1): Show CTGAATGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02109.hp1 HG02451.hp1 others(8): Show HG00280.hp1 HG02109.hp1 HG02451.hp1 HG02683.hp1 HG02723.hp1 HG02976.hp2 NA19065.hp2 NA19066.hp1 NA19080.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0023	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0147 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0147 a0001c0001t0001g0327 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0137 a0001c0001t0002g0333 a0001c0001t0003g0328 a0001c0001t0006g0003 a0001c0001t0023g0332	11	334	0.0329	8	c.-13 others(19): Show c.-1328_-1327insTGAATGAA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding		1164		chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893939	A A	ATATATAT others(1): Show ATATATATG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03041.hp1 others(1): Show HG02896.hp1 HG02897.hp2 HG03041.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0070 a0001c0001t0008g0149 a0001c0001t0008g0186 others(1): Show a0001c0001t0001g0070 a0001c0001t0008g0149 a0001c0001t0008g0186 a0001c0001t0008g0231	4	334	0.0120	8	c.83- others(23): Show c.83-3056_83-3055insGTATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172894132	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp1 HG02027.hp1 others(8): Show HG00639.hp1 HG01361.hp1 HG02027.hp1 HG02027.hp2 HG02451.hp1 HG02559.hp1 HG03942.hp1 NA18998.hp1 NA19005.hp2 NA19012.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0056 a0001c0001t0001g0121 a0001c0001t0001g0143 others(8): Show a0001c0001t0001g0056 a0001c0001t0001g0121 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0001g0181 a0001c0001t0001g0237 a0001c0001t0001g0282 a0001c0001t0001g0327 a0001c0001t0002g0042 a0001c0001t0002g0102	11	334	0.0329	8	c.83- others(23): Show c.83-2853_83-2846dupTTTTTTTT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172897443	A A	AAAAAAGA others(1): Show AAAAAAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00597.hp2 others(47): Show HG00323.hp2 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01257.hp1 HG01358.hp1 HG01361.hp1 HG01943.hp2 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02155.hp2 HG02293.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp2 NA18942.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp2 NA18988.hp2 NA18995.hp1 NA18998.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19065.hp1 NA19066.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 a0001c0005t0018	a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0030 others(47): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0305 a0001c0001t0001g0325 a0001c0001t0002g0042 a0001c0001t0002g0102 a0001c0001t0002g0141 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0008g0149 a0001c0001t0008g0231 a0001c0001t0011g0117 a0001c0001t0019g0068 a0001c0005t0018g0160	50	334	0.1497	8	c.155 others(23): Show c.155+370_155+371insAAAAGAGA	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(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01257.hp2 HG01258.hp1 others(24): Show HG00140.hp1 HG01257.hp2 HG01258.hp1 HG01884.hp1 HG02109.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02717.hp2 HG03130.hp2 HG03195.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA19030.hp1 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0181 others(24): Show a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0181 a0001c0001t0001g0213 a0001c0001t0001g0280 a0001c0001t0001g0291 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0002g0020 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0138 a0001c0001t0002g0145 a0001c0001t0002g0219 a0001c0001t0002g0225 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0003g0045 a0001c0001t0003g0297 a0001c0001t0003g0315 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0004g0326 a0001c0001t0005g0004 a0001c0001t0009g0330 a0001c0001t0012g0331	27	334	0.0808	8	c.156 others(25): Show c.156-5685_156-5678dupCACACACA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GAGGGGGG others(1): Show GAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 NA18956.hp1 HG02280.hp2 HG02717.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0263 a0001c0001t0003g0297 a0001c0001t0009g0330 a0001c0001t0001g0263 a0001c0001t0003g0297 a0001c0001t0009g0330	3	334	0.0090	8	c.156 others(25): Show c.156-1323_156-1322insAGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172914246	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02145.hp2 others(11): Show HG01243.hp1 HG01884.hp2 HG02145.hp2 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02723.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0030	a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0003g0316 others(11): Show a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0003g0316 a0001c0001t0005g0155 a0001c0001t0005g0161 a0001c0001t0005g0209 a0001c0001t0005g0232 a0001c0001t0005g0324 a0001c0001t0006g0003 a0001c0001t0006g0013 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0013g0314 a0001c0001t0030g0089	14	334	0.0419	8	c.251 others(23): Show c.251-465_251-464insTAAATAAA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172914254	A A	AAAAAAAA others(1): Show AAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp1 HG02738.hp1 others(8): Show HG01109.hp2 HG01123.hp1 HG02738.hp1 HG02818.hp2 HG03098.hp1 HG03654.hp1 HG04204.hp1 NA18962.hp2 NA19011.hp2 NA19065.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0199 a0001c0001t0001g0249 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0199 a0001c0001t0001g0249 a0001c0001t0001g0288 a0001c0001t0002g0130 a0001c0001t0002g0146 a0001c0001t0002g0219 a0001c0001t0002g0255 a0001c0001t0003g0154 a0001c0001t0003g0217 a0001c0001t0005g0106	11	334	0.0329	8	c.251 others(23): Show c.251-457_251-456insAAAATAAA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172929153	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01257.hp2 others(15): Show HG00140.hp1 HG00280.hp2 HG01257.hp2 HG01258.hp1 HG02630.hp1 HG02809.hp2 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 NA18612.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA19074.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0026 a0001c0005t0018	a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0001g0205 others(15): Show a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0002g0138 a0001c0001t0002g0190 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0006g0183 a0001c0001t0013g0314 a0001c0001t0015g0198 a0001c0001t0016g0196 a0001c0001t0026g0241 a0001c0005t0018g0160	18	334	0.0539	8	c.541 others(25): Show c.541+2596_541+2603dupGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172947876	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03491.hp2 HG03688.hp2 others(6): Show HG03041.hp1 HG03491.hp2 HG03688.hp2 NA18942.hp1 NA18969.hp2 NA18988.hp2 NA18994.hp1 NA18995.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0051 a0001c0001t0001g0126 a0001c0001t0001g0163 others(6): Show a0001c0001t0001g0051 a0001c0001t0001g0126 a0001c0001t0001g0163 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0252 a0001c0001t0001g0286 a0001c0001t0003g0334 a0001c0001t0008g0231	9	334	0.0270	8	c.766 others(25): Show c.766-2804_766-2797dupTGTGTGTG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC3_chr20_35537078_35562634	35544805	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00741.hp2 HG01175.hp1 others(20): Show HG00423.hp1 HG00741.hp2 HG01175.hp1 HG01175.hp2 HG01891.hp2 HG02027.hp1 HG02109.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02717.hp1 HG02886.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp1 HG03688.hp2 HG03710.hp1 HG04115.hp2 NA18522.hp1 NA18906.hp1 NA19067.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0214 others(15): Show a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0002g0015 a0001c0001t0004g0061 a0001c0002t0001g0038 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0003t0001g0043 a0001c0003t0001g0116 a0001c0003t0001g0176 a0001c0003t0001g0192 a0001c0003t0001g0193	23	364	0.0632	8	c.367 others(25): Show c.367+1878_367+1885dupTTTTTTTT	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ERG_chr21_38375036_38503477	38407634	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00558.hp2 others(40): Show HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00733.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01256.hp1 HG01258.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp2 HG02135.hp1 HG02683.hp2 HG03041.hp1 HG03453.hp2 HG03471.hp2 HG03831.hp1 HG04184.hp1 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18952.hp2 NA18967.hp1 NA18983.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA19003.hp2 NA19011.hp2 NA19078.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0019 a0001c0002t0012	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 others(39): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0112 a0001c0001t0001g0190 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0250 a0001c0001t0001g0289 a0001c0001t0002g0002 a0001c0001t0002g0246 a0001c0001t0002g0265 a0001c0001t0002g0328 a0001c0001t0002g0352 a0001c0001t0003g0057 a0001c0001t0003g0062 a0001c0001t0003g0110 a0001c0001t0003g0118 a0001c0001t0003g0178 a0001c0001t0003g0199 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0004g0008 a0001c0001t0004g0024 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0041 a0001c0001t0004g0052 a0001c0001t0005g0050 a0001c0001t0006g0006 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0013g0093 a0001c0001t0013g0331 a0001c0001t0019g0047 a0001c0002t0012g0228	43	360	0.1194	8	c.389 others(25): Show c.389-3933_389-3926dupTATATATA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	3/9			chr21	TogoVar