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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EPHX3_chr19_15221919_15237448	15229907	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	374	0.0027	18	c.616 others(35): Show c.616+1054_616+1055insCTTTTTTTTTTTTTTTTT		EPHX3	ENSG00000105131.8	transcript	ENST00000221730.8	protein_coding	4/6						chr19	TogoVar
EPHX4_chr1_92024985_92068538	92030457	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02258.hp1 HG02300.hp2 others(4): Show HG00099.hp2 HG02258.hp1 HG02300.hp2 HG03209.hp2 HG03239.hp1 HG03704.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 others(4): Show a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0186 a0001c0001t0001g0192	7	236	0.0297	18	c.231 others(33): Show c.231+159_231+176dupTGTGTGTGTGTGTGTGTG		EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX4_chr1_92024985_92068538	92030483	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02559.hp2 NA19066.hp2 HG01169.hp2 HG02559.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123	3	236	0.0127	18	c.231 others(33): Show c.231+176_231+177insTGTGTGTGTGTGTGAGTG		EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG02109.hp1 others(15): Show HG00140.hp2 HG00673.hp2 HG02109.hp1 HG02602.hp2 HG02922.hp2 HG02976.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG04115.hp2 HG06807.hp2 NA18906.hp1 NA18946.hp1 NA18963.hp1 NA19002.hp1 NA19011.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0149 a0001c0001t0001g0160 a0001c0001t0001g0163 others(15): Show a0001c0001t0001g0149 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0006g0216	18	282	0.0638	18	c.766 others(35): Show c.766+3937_766+3954dupTTTTTTTTTTTTTTTTTT		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	282	0.0036	18	c.114 others(37): Show c.1147+5271_1147+5288dupAAAAAAAAAAAAAAAAAA		EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN3_chr17_50527735_50548750	50530497	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0010 a0005c0006t0010	a0005c0006t0010g0101 a0005c0006t0010g0101	1	350	0.0029	18	c.-26 others(29): Show c.-2625_-2624insAAAAAAAAAAAAAAAAAA		EPN3	ENSG00000049283.19	transcript	ENST00000268933.8	protein_coding					2237		chr17	TogoVar
EPN3_chr17_50527735_50548750	50542076	A A	ACCGCCCC others(11): Show ACCGCCCCCAGCTGGCCTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03453.hp1 NA21309.hp2 HG03453.hp1 NA21309.hp2	a0012 a0016 a0012 a0016	a0012c0013 a0016c0022 a0012c0013 a0016c0022	a0012c0013t0001 a0016c0022t0001 a0012c0013t0001 a0016c0022t0001	a0012c0013t0001g0081 a0016c0022t0001g0051 a0012c0013t0001g0081 a0016c0022t0001g0051	2	350	0.0057	18	c.182 others(27): Show c.1822_1823insCCCCAGCTGGCCTGCCGC	p.Pro others(31): Show p.Pro607_Gln608insProProAlaGlyLeuPro	EPN3	ENSG00000049283.19	transcript	ENST00000268933.8	protein_coding	10/10	2210/3879	1823/1899	608/632		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPOR_chr19_11372207_11389314	11384667	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02027.hp2 HG02735.hp1 others(2): Show HG01109.hp1 HG02027.hp2 HG02735.hp1 HG02976.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0022 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0022 a0002c0002t0001g0008	5	404	0.0124	18	c.-47 others(27): Show c.-478_-461dupGAGAGAGAGAGAGAGAGA		EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding					354		chr19	TogoVar
EPOR_chr19_11372207_11389314	11384703	C C	CTCTCCCC others(11): Show CTCTCCCCTTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0017 a0004c0003t0001g0017	1	404	0.0025	18	c.-49 others(27): Show c.-497_-496insAAGGAAGGAAAGGGGAGA		EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding					390		chr19	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(11): Show CCCGCACCCGCCGCACCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01255.hp2 HG01515.hp1 others(2): Show HG00140.hp1 HG01255.hp2 HG01515.hp1 HG01884.hp1 NA20805.hp2	a0010 a0011 a0092 others(2): Show a0010 a0011 a0092 a0101 a0103	a0010c0089 a0011c0191 a0092c0139 others(2): Show a0010c0089 a0011c0191 a0092c0139 a0101c0134 a0103c0340	a0010c0089t0002 a0011c0191t0012 a0092c0139t0001 others(2): Show a0010c0089t0002 a0011c0191t0012 a0092c0139t0001 a0101c0134t0006 a0103c0340t0027	a0010c0089t0002g0042 a0011c0191t0012g0041 a0092c0139t0001g0043 others(2): Show a0010c0089t0002g0042 a0011c0191t0012g0041 a0092c0139t0001g0043 a0101c0134t0006g0044 a0103c0340t0027g0045	5	424	0.0118	18	c.-46 others(31): Show c.-46+25_-46+42dupCGGGTGCGGCGGGTGCGG		EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1						chr8	TogoVar
EPPK1_chr8_143852324_143883467	143878421	C C	CGCCGCAC others(11): Show CGCCGCACCCGCCGCACCT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0227 a0001c0227	a0001c0227t0001 a0001c0227t0001	a0001c0227t0001g0029 a0001c0227t0001g0029	1	424	0.0024	18	c.-47 others(28): Show c.-47_-46+16dupAGGTGCGGCGGGTGCGGC		EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1						chr8	TogoVar
EPRS1_chr1_219963600_220051505	220020870	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01123.hp2 others(5): Show HG00639.hp1 HG01074.hp1 HG01123.hp2 HG02698.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0010 a0002c0003 a0005c0010	a0002c0003t0001 a0002c0003t0002 a0005c0010t0001 a0002c0003t0001 a0002c0003t0002 a0005c0010t0001	a0002c0003t0001g0206 a0002c0003t0001g0207 a0002c0003t0001g0213 others(5): Show a0002c0003t0001g0206 a0002c0003t0001g0207 a0002c0003t0001g0213 a0002c0003t0001g0214 a0002c0003t0001g0217 a0002c0003t0001g0333 a0002c0003t0002g0205 a0005c0010t0001g0208	8	358	0.0224	18	c.111 others(35): Show c.1116-650_1116-649insCATATATATATATATATA		EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	9/31						chr1	TogoVar
EPS15L1_chr19_16350247_16476970	16369676	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02895.hp1 HG02976.hp1 others(3): Show HG01496.hp2 HG02895.hp1 HG02976.hp1 NA18962.hp2 NA18971.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0069 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0264	6	276	0.0217	18	c.238 others(37): Show c.2380+7428_2380+7445dupACACACACACACACACAC		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	22/23						chr19	TogoVar
EPS15L1_chr19_16350247_16476970	16400336	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	276	0.0036	18	c.179 others(37): Show c.1791+1984_1791+1985insTTTTTTTTTTTTTTTTTT		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	16/23						chr19	TogoVar
EPS15L1_chr19_16350247_16476970	16464729	T T	TACACTAA others(11): Show TACACTAACACTAACACTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01884.hp2 HG02040.hp1 others(3): Show HG00558.hp2 HG01884.hp2 HG02040.hp1 HG02055.hp2 HG02080.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0001g0146 others(3): Show a0001c0001t0001g0124 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0001g0270	6	276	0.0217	18	c.33+ others(33): Show c.33+7166_33+7183dupTAGTGTTAGTGTTAGTGT		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	1/23						chr19	TogoVar
EPS15_chr1_51349263_51524266	51426837	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0011 a0010c0015t0011	a0010c0015t0011g0152 a0010c0015t0011g0152	1	152	0.0066	18	c.104 others(37): Show c.1041-4980_1041-4979insTATATATAGAGAGAGAGA		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	12/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51426837	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG03195.hp1 HG01109.hp2 HG02559.hp2 HG03195.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0010 a0002c0001 a0004c0010	a0002c0001t0011 a0004c0010t0026 a0002c0001t0011 a0004c0010t0026	a0002c0001t0011g0131 a0002c0001t0011g0132 a0004c0010t0026g0129 a0002c0001t0011g0131 a0002c0001t0011g0132 a0004c0010t0026g0129	3	152	0.0197	18	c.104 others(37): Show c.1041-4980_1041-4979insTATATAGAGAGAGAGAGA		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	12/24						chr1	TogoVar
EPS15_chr1_51349263_51524266	51426837	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0130 a0002c0001t0011g0130	1	152	0.0066	18	c.104 others(37): Show c.1041-4980_1041-4979insTAGAGAGAGAGAGAGAGA		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	12/24						chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42881607	C C	CTCTCTGT others(11): Show CTCTCTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0328 a0001c0001t0056g0328	1	352	0.0028	18	c.68 others(29): Show c.6886_*6887insCACACACACACACAGAGA		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding					4780		chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42881607	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01168.hp1 HG00733.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0168 a0001c0001t0021g0169 a0001c0001t0021g0168 a0001c0001t0021g0169	2	352	0.0057	18	c.68 others(29): Show c.6886_*6887insCACACACACACACACACA		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding					4780		chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42882910	A A	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	352	0.0028	18	c.55 others(29): Show c.5583_*5584insAGAGAGAGAGAGAGAGAG		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding					3477		chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42882939	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0069 a0001c0001t0042g0069	1	352	0.0028	18	c.55 others(29): Show c.5554_*5555insCAGAGAGAGAGAGAGAGA		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding					3448		chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42938914	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(39): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG02132.hp2 HG02486.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG03017.hp1 HG03195.hp1 HG03831.hp2 NA18940.hp1 NA18941.hp1 NA18952.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18970.hp2 NA18975.hp1 NA18991.hp2 NA18994.hp1 NA19010.hp1 NA19072.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006 a0002c0008 a0004c0012 a0004c0013 a0007c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(25): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0033 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0023 a0001c0002t0053 a0001c0003t0003 a0002c0006t0012 a0002c0006t0019 a0002c0008t0002 a0002c0008t0054 a0004c0012t0006 a0004c0013t0006 a0007c0009t0041	a0001c0001t0002g0242 a0001c0001t0004g0157 a0001c0001t0004g0167 others(39): Show a0001c0001t0002g0242 a0001c0001t0004g0157 a0001c0001t0004g0167 a0001c0001t0008g0160 a0001c0001t0008g0165 a0001c0001t0013g0118 a0001c0001t0013g0125 a0001c0001t0013g0131 a0001c0001t0014g0260 a0001c0001t0015g0194 a0001c0001t0017g0126 a0001c0001t0017g0166 a0001c0001t0019g0346 a0001c0001t0021g0155 a0001c0001t0022g0010 a0001c0001t0026g0116 a0001c0001t0033g0101 a0001c0002t0001g0033 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0003g0190 a0001c0002t0003g0280 a0001c0002t0005g0102 a0001c0002t0005g0108 a0001c0002t0005g0127 a0001c0002t0005g0149 a0001c0002t0007g0279 a0001c0002t0007g0310 a0001c0002t0009g0121 a0001c0002t0010g0214 a0001c0002t0010g0287 a0001c0002t0023g0034 a0001c0002t0053g0208 a0001c0003t0003g0189 a0001c0003t0003g0192 a0002c0006t0012g0199 a0002c0006t0019g0200 a0002c0008t0002g0216 a0002c0008t0054g0317 a0004c0012t0006g0302 a0004c0013t0006g0198 a0007c0009t0041g0105	42	352	0.1193	18	c.564 others(37): Show c.564-12503_564-12486dupTTTTTTTTTTTTTTTTTT		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10						chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42965679	G G	GTCCCTCT others(11): Show GTCCCTCTCCCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19011.hp2 NA19091.hp2 HG02622.hp1 NA19011.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0055 a0001c0001t0057 a0001c0001t0015 a0001c0001t0055 a0001c0001t0057	a0001c0001t0015g0226 a0001c0001t0055g0221 a0001c0001t0057g0195 a0001c0001t0015g0226 a0001c0001t0055g0221 a0001c0001t0057g0195	3	352	0.0085	18	c.332 others(35): Show c.332-1558_332-1541dupGAGGGAGAGGGAGAGGGA		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10						chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42965768	T T	TCATCTCC others(11): Show TCATCTCCCTCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp2 HG02293.hp2 others(1): Show HG01175.hp2 HG01257.hp2 HG02293.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0005	a0001c0001t0002g0196 a0001c0001t0008g0160 a0001c0002t0001g0151 others(1): Show a0001c0001t0002g0196 a0001c0001t0008g0160 a0001c0002t0001g0151 a0001c0002t0005g0149	4	352	0.0114	18	c.332 others(35): Show c.332-1630_332-1629insGAGAGGGAGAGGGAGATG		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10						chr13	TogoVar
ERAL1_chr17_28850016_28866061	28856731	A A	AGATGGAG others(11): Show AGATGGAGTCTCACTCTGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	380	0.0026	18	c.489 others(33): Show c.489+150_489+167dupGATGGAGTCTCACTCTGT		ERAL1	ENSG00000132591.12	transcript	ENST00000254928.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
ERAP1_chr5_96769484_96812945	96808187	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02280.hp2 HG02717.hp2 HG00642.hp2 HG02280.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0151 a0001c0001t0002g0003 a0001c0001t0002g0151	3	416	0.0072	18	c.-34 others(27): Show c.-346_-345insACACACACACACACACAC		ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding					243		chr5	TogoVar
ERAP2_chr5_96871500_96924703	96874180	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG03540.hp1 HG04199.hp2 others(3): Show HG02451.hp1 HG03540.hp1 HG04199.hp2 NA18964.hp1 NA18982.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0007 a0002c0002t0002 a0001c0001t0001 a0001c0004t0007 a0002c0002t0002	a0001c0001t0001g0040 a0001c0001t0001g0230 a0001c0001t0001g0231 others(3): Show a0001c0001t0001g0040 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0004t0007g0298 a0001c0004t0007g0303 a0002c0002t0002g0325	6	398	0.0151	18	c.-24 others(29): Show c.-2470_-2469insAGAAAGAAAGAAAGAAAG		ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding					2319		chr5	TogoVar
ERAP2_chr5_96871500_96924703	96874180	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02622.hp1 NA18906.hp2 HG01496.hp1 HG02622.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0011 a0001c0004t0006 a0001c0004t0011	a0001c0004t0006g0132 a0001c0004t0011g0133 a0001c0004t0011g0136 a0001c0004t0006g0132 a0001c0004t0011g0133 a0001c0004t0011g0136	3	398	0.0075	18	c.-24 others(29): Show c.-2470_-2469insAGAAAGAAAGAAAGAGAG		ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding					2319		chr5	TogoVar
ERAP2_chr5_96871500_96924703	96914148	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG02647.hp1 others(4): Show HG01243.hp2 HG01255.hp2 HG02647.hp1 HG03130.hp1 NA18955.hp2 NA18982.hp1 NA19058.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0002c0002t0009 a0004c0005t0003 a0002c0002t0002 a0002c0002t0009 a0004c0005t0003	a0002c0002t0002g0204 a0002c0002t0009g0023 a0002c0002t0009g0138 others(2): Show a0002c0002t0002g0204 a0002c0002t0009g0023 a0002c0002t0009g0138 a0004c0005t0003g0021 a0004c0005t0003g0205	7	398	0.0176	18	c.265 others(35): Show c.2657+694_2657+711dupCACACACACACACACACA		ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERAP2_chr5_96871500_96924703	96914148	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18978.hp2 NA19002.hp1 others(2): Show NA18942.hp2 NA18978.hp2 NA19002.hp1 NA19057.hp1 NA19087.hp2	a0003 a0004 a0017 a0003 a0004 a0017	a0003c0003 a0004c0005 a0017c0026 a0003c0003 a0004c0005 a0017c0026	a0003c0003t0004 a0004c0005t0003 a0017c0026t0003 a0003c0003t0004 a0004c0005t0003 a0017c0026t0003	a0003c0003t0004g0289 a0003c0003t0004g0291 a0004c0005t0003g0037 others(1): Show a0003c0003t0004g0289 a0003c0003t0004g0291 a0004c0005t0003g0037 a0017c0026t0003g0317	5	398	0.0126	18	c.265 others(35): Show c.2657+692_2657+693insTCACACACACACACACAC		ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBB2_chr17_39695064_39733658	39695704	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02132.hp1 HG02135.hp2 others(7): Show HG01891.hp2 HG02132.hp1 HG02135.hp2 HG03540.hp1 NA18949.hp1 NA18966.hp1 NA18982.hp2 NA18986.hp2 NA19005.hp1 NA19067.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0012 a0001c0001 a0002c0002 a0013c0012	a0001c0001t0001 a0002c0002t0001 a0013c0012t0001 a0001c0001t0001 a0002c0002t0001 a0013c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0002c0002t0001g0002 a0013c0012t0001g0008	10	318	0.0315	18	c.-45 others(29): Show c.-4535_-4534insACACACACACACACACAC		ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding					4359		chr17	TogoVar
ERBB2_chr17_39695064_39733658	39724272	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG06807.hp2 HG01081.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0042 a0001c0011t0001g0047 a0001c0001t0001g0042 a0001c0011t0001g0047	2	318	0.0063	18	c.230 others(35): Show c.2307+278_2307+279insTTTTTTTTTTTTTTTTTT		ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr17	TogoVar
ERBB3_chr12_56075165_56108505	56091266	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp2 HG03540.hp2 others(1): Show HG01891.hp2 HG03139.hp2 HG03540.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010	a0001c0001t0002g0159 a0001c0001t0002g0323 a0001c0001t0006g0324 others(1): Show a0001c0001t0002g0159 a0001c0001t0002g0323 a0001c0001t0006g0324 a0001c0001t0010g0225	4	392	0.0102	18	c.111 others(37): Show c.1110-1468_1110-1451dupTATATATATATATATATA		ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	9/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERBB4_chr2_211370717_212543802	211515896	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18522.hp1 HG01243.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0027 a0001c0001t0010 a0001c0001t0027	a0001c0001t0010g0022 a0001c0001t0027g0055 a0001c0001t0010g0022 a0001c0001t0027g0055	2	56	0.0357	18	c.248 others(39): Show c.2487+46006_2487+46007insTATATATATATATATAAA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211515912	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	56	0.0179	18	c.248 others(39): Show c.2487+45990_2487+45991insAAAATATATATATATATA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211571038	C C	CCTCTTTT others(11): Show CCTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	56	0.0179	18	c.230 others(37): Show c.2302-8951_2302-8950insAAAAAAAAAAAAAAAGAG		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211599513	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03471.hp2 NA18522.hp2 others(1): Show HG02895.hp1 HG03471.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0019 a0001c0001t0024 others(1): Show a0001c0001t0011 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026	a0001c0001t0011g0042 a0001c0001t0019g0002 a0001c0001t0024g0038 others(1): Show a0001c0001t0011g0042 a0001c0001t0019g0002 a0001c0001t0024g0038 a0001c0001t0026g0052	4	56	0.0714	18	c.230 others(39): Show c.2301+19646_2301+19663dupCACACACACACACACACA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211721620	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19240.hp2 HG02717.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0017 a0001c0001t0004g0008 a0001c0001t0003g0017 a0001c0001t0004g0008	2	56	0.0357	18	c.883 others(33): Show c.883+755_883+772dupATATATATATATATATAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	7/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211763897	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02258.hp2 others(8): Show HG01243.hp1 HG01243.hp2 HG02258.hp2 HG02717.hp2 HG02809.hp1 HG03239.hp2 HG03471.hp2 HG03834.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 others(7): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0002t0001 a0002c0003t0001	a0001c0001t0003g0017 a0001c0001t0009g0046 a0001c0001t0010g0022 others(8): Show a0001c0001t0003g0017 a0001c0001t0009g0046 a0001c0001t0010g0022 a0001c0001t0015g0034 a0001c0001t0023g0012 a0001c0001t0024g0038 a0001c0001t0026g0052 a0001c0001t0028g0053 a0001c0002t0001g0036 a0001c0002t0001g0037 a0002c0003t0001g0014	11	56	0.1964	18	c.557 others(37): Show c.557-13194_557-13193insGTGTGTGTGTGTGTGTGT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211772924	C C	CACACACA others(11): Show CACACACACACACACATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0053 a0001c0001t0028g0053	1	56	0.0179	18	c.556 others(37): Show c.556+15100_556+15101insATATGTGTGTGTGTGTGT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211772924	C C	CACACACA others(11): Show CACACACACACACATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0051 a0001c0001t0025g0051	1	56	0.0179	18	c.556 others(37): Show c.556+15100_556+15101insATATATGTGTGTGTGTGT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211772930	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp1 HG02922.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0045 a0001c0001t0003g0050 a0001c0001t0001g0045 a0001c0001t0003g0050	2	56	0.0357	18	c.556 others(37): Show c.556+15094_556+15095insGTGTGTGTATATATATAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211905738	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0052 a0001c0001t0026g0052	1	56	0.0179	18	c.421 others(37): Show c.421+41691_421+41692insTATATATATATATATATA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212101345	C C	CTATACAT others(11): Show CTATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 HG02965.hp2 others(5): Show HG02145.hp2 HG02809.hp2 HG02965.hp2 HG03195.hp2 HG03471.hp1 HG03579.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0001t0024 a0001c0001t0029 a0001c0002t0001	a0001c0001t0002g0025 a0001c0001t0003g0040 a0001c0001t0004g0011 others(5): Show a0001c0001t0002g0025 a0001c0001t0003g0040 a0001c0001t0004g0011 a0001c0001t0006g0039 a0001c0001t0017g0029 a0001c0001t0024g0038 a0001c0001t0029g0054 a0001c0002t0001g0036	8	56	0.1429	18	c.234 others(37): Show c.234+23389_234+23406dupTATATATATATATGTATA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212101350	C C	CATATATA others(11): Show CATATATATATATATACAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0053 a0001c0001t0028g0053	1	56	0.0179	18	c.234 others(37): Show c.234+23401_234+23402insATGTATATATATATATAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212102090	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18522.hp2 HG01175.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0024 a0001c0001t0005 a0001c0001t0024	a0001c0001t0005g0015 a0001c0001t0024g0038 a0001c0001t0005g0015 a0001c0001t0024g0038	2	56	0.0357	18	c.234 others(37): Show c.234+22644_234+22661dupTATATATATATATATATA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212206589	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0054 a0001c0001t0029g0054	1	56	0.0179	18	c.83- others(35): Show c.83-81687_83-81686insAAAAAAAAAAAAAAAAAA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212537150	C C	CGGCGGCG others(11): Show CGGCGGCGGCGGCGGCGGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0038 a0001c0001t0024g0038	1	56	0.0179	18	c.82+ others(33): Show c.82+1298_82+1299insCCCGCCGCCGCCGCCGCC		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBIN_chr5_65921575_66087546	65965382	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0204 a0002c0003t0002g0204	1	306	0.0033	18	c.-57 others(37): Show c.-57-23229_-57-23212dupTTTTTTTTTTTTTTTTTT		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr5	TogoVar

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