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
EPHA7_chr6_93235020_93424559	93387924	C C	CAGACAGA others(13): Show CAGACAGACAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0109 a0001c0002t0002g0109	1	280	0.0036	20	c.832 others(39): Show c.832+22576_832+22577insATCTATCTATCTGTCTGTCT	EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	3/16			chr6	TogoVar
EPHA8_chr1_22558489_22608595	22585027	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	342	0.0029	20	c.824 others(37): Show c.824-1448_824-1429dupTGTGTGTGTGTGTGTGTGTG	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA8_chr1_22558489_22608595	22585050	T T	TGTGTGTG others(13): Show TGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp1 HG02559.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0002 a0001c0022t0004 a0001c0001t0002 a0001c0022t0004	a0001c0001t0002g0098 a0001c0022t0004g0028 a0001c0001t0002g0098 a0001c0022t0004g0028	2	342	0.0059	20	c.824 others(37): Show c.824-1429_824-1428insTGTGTGCGCGCGCGCGCGCG	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA8_chr1_22558489_22608595	22585050	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG02486.hp1 HG02027.hp1 HG02027.hp2 HG02486.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0014 a0001c0001 a0002c0003 a0004c0014	a0001c0001t0007 a0002c0003t0002 a0004c0014t0015 a0001c0001t0007 a0002c0003t0002 a0004c0014t0015	a0001c0001t0007g0138 a0002c0003t0002g0091 a0004c0014t0015g0302 a0001c0001t0007g0138 a0002c0003t0002g0091 a0004c0014t0015g0302	3	342	0.0088	20	c.824 others(37): Show c.824-1429_824-1428insTGTGTGTGTGTGTGTGCGCG	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB1_chr3_134790260_135265467	134860149	G G	GGACACAC others(13): Show GGACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	134	0.0075	20	c.58+ others(37): Show c.58+64461_58+64480dupGACACACACACACACACACA	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134860150	G G	GACACACA others(13): Show GACACACACACACACACAGAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03834.hp2 HG04199.hp1 HG03688.hp2 HG03834.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0016	a0001c0002t0001g0012 a0001c0002t0002g0011 a0001c0002t0016g0114 a0001c0002t0001g0012 a0001c0002t0002g0011 a0001c0002t0016g0114	3	134	0.0224	20	c.58+ others(37): Show c.58+64478_58+64479insGACACACACACACACACACA	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134882765	C C	CCTTCCTT others(13): Show CCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0059 a0001c0001t0017g0059	1	134	0.0075	20	c.59- others(37): Show c.59-43048_59-43047insCCTTTCTTTCTTTCTTTCTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134942830	T T	TGAACTAA others(13): Show TGAACTAATAAATTAGTCAAA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03927.hp2 HG03492.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0010 a0001c0004t0005 a0001c0002t0010 a0001c0004t0005	a0001c0002t0010g0096 a0001c0004t0005g0097 a0001c0002t0010g0096 a0001c0004t0005g0097	2	134	0.0149	20	c.124 others(37): Show c.124-8539_124-8520dupAACTAATAAATTAGTCAAAG	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135053027	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0102 a0001c0001t0005g0102	1	134	0.0075	20	c.806 others(39): Show c.806-53412_806-53393dupTATATATATATATATATATA	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135182986	C C	CTTTCTTT others(13): Show CTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	134	0.0075	20	c.188 others(39): Show c.1882+3032_1882+3051dupTCTTTTCTTTTCTTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135183243	C C	CCTTCCTC others(13): Show CCTTCCTCCCTCCCTCCCTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18948.hp2 HG04228.hp1 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0005 a0001c0004t0001 a0001c0002t0005 a0001c0004t0001	a0001c0002t0005g0103 a0001c0004t0001g0020 a0001c0002t0005g0103 a0001c0004t0001g0020	2	134	0.0149	20	c.188 others(39): Show c.1882+3264_1882+3265insCCTCCCTCCCTCCCTTTCTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB2_chr1_22705839_22926500	22819205	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19010.hp2 NA20805.hp2 NA18945.hp1 NA19010.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0042 a0001c0001t0003g0196 a0001c0002t0001g0046 a0001c0001t0002g0042 a0001c0001t0003g0196 a0001c0002t0001g0046	3	248	0.0121	20	c.811 others(39): Show c.811+34155_811+34174dupCTCTCTCTCTCTCTCTCTCT	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22901820	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp2 HG03130.hp1 others(1): Show HG01099.hp1 HG01106.hp2 HG03130.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0049 a0001c0002t0009 a0001c0015t0001 a0001c0001t0049 a0001c0002t0009 a0001c0015t0001	a0001c0001t0049g0228 a0001c0002t0009g0149 a0001c0002t0009g0233 others(1): Show a0001c0001t0049g0228 a0001c0002t0009g0149 a0001c0002t0009g0233 a0001c0015t0001g0080	4	248	0.0161	20	c.176 others(39): Show c.1766-4160_1766-4141dupGTGTGTGTGTGTGTGTGTGT	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB4_chr7_100797565_100832523	100799251	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA19077.hp2 NA18962.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0187 a0001c0002t0001g0014 a0001c0002t0001g0187	2	364	0.0055	20	c.42 others(31): Show c.4209_*4210insGGAAGGAAGGAAGGAAGGAA	EPHB4	ENSG00000196411.10	transcript	ENST00000358173.8	protein_coding		3313		chr7	TogoVar
EPHX2_chr8_27486143_27550564	27487357	A A	ACTCTTCT others(13): Show ACTCTTCTCTTCTCTTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	374	0.0027	20	c.-38 others(31): Show c.-3852_-3851insCTCTTCTCTTCTCTTCTCTT	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding		3785		chr8	TogoVar
EPHX4_chr1_92024985_92068538	92030457	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	236	0.0042	20	c.231 others(35): Show c.231+157_231+176dupTGTGTGTGTGTGTGTGTGTG	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(13): Show TGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01168.hp2 HG01243.hp2 others(7): Show HG00408.hp2 HG01168.hp2 HG01243.hp2 HG02145.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18906.hp1 NA19058.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0144 a0001c0001t0001g0145 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151	10	236	0.0424	20	c.231 others(35): Show c.231+176_231+177insTGTGTGTGTGTGTGTGAGTG	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX4_chr1_92024985_92068538	92030492	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	236	0.0042	20	c.231 others(35): Show c.231+182_231+183insTGTGTGTGTGTGTGTGTGTA	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6			chr1	TogoVar
EPN2_chr17_19232366_19341715	19276773	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp2 NA18522.hp2 others(1): Show HG03130.hp2 HG03139.hp2 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0099 a0001c0001t0007g0095 a0001c0001t0007g0096 others(1): Show a0001c0001t0004g0099 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097	4	282	0.0142	20	c.-29 others(39): Show c.-293-5164_-293-5163insTTTTTTTTTTTTTTTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(13): Show GTTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	282	0.0036	20	c.766 others(37): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02723.hp1 NA20300.hp1 HG01358.hp2 HG02723.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0164 a0001c0001t0001g0180 a0001c0001t0001g0181	3	282	0.0106	20	c.766 others(37): Show c.766+3935_766+3954dupTTTTTTTTTTTTTTTTTTTT	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(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00621.hp2 others(10): Show HG00558.hp2 HG00597.hp1 HG00621.hp2 HG01258.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 NA18942.hp1 NA18950.hp2 NA18954.hp1 NA18990.hp1 NA19005.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0001 a0001c0001t0008 a0001c0001t0013	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 others(10): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0008g0027 a0001c0001t0013g0083	13	282	0.0461	20	c.114 others(39): Show c.1147+5288_1147+5289insAAAAAAAAAAAAAAAAAAAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPOR_chr19_11372207_11389314	11384667	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02451.hp2 HG03017.hp2 others(1): Show HG01952.hp1 HG02451.hp2 HG03017.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0002c0002t0001g0008 a0001c0001t0001g0003 a0001c0001t0001g0004 a0002c0002t0001g0008	4	404	0.0099	20	c.-48 others(29): Show c.-480_-461dupGAGAGAGAGAGAGAGAGAGA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		354		chr19	TogoVar
EPOR_chr19_11372207_11389314	11384703	C C	CTCTCTCC others(13): Show CTCTCTCCCCTTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	404	0.0025	20	c.-49 others(29): Show c.-497_-496insAAGGAAGGAAAGGGGAGAGA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		390		chr19	TogoVar
EPOR_chr19_11372207_11389314	11384705	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 NA19240.hp2 HG03490.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	404	0.0050	20	c.-51 others(29): Show c.-518_-499dupGGAAGGAAGGAAGGAAGGAA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		392		chr19	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(13): Show TATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02258.hp1 HG01433.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0031 a0001c0001t0002g0032	2	358	0.0056	20	c.432 others(37): Show c.4323+273_4323+274insGTGTGTATATATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPS15L1_chr19_16350247_16476970	16369676	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02976.hp2 HG04204.hp2 others(2): Show HG00099.hp1 HG02976.hp2 HG04204.hp2 NA18522.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0234 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0052 a0001c0001t0001g0234 a0001c0001t0001g0256 a0001c0001t0001g0259	5	276	0.0181	20	c.238 others(39): Show c.2380+7426_2380+7445dupACACACACACACACACACAC	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	22/23			chr19	TogoVar
EPS15_chr1_51349263_51524266	51357426	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0089 a0001c0003t0001g0089	1	152	0.0066	20	c.254 others(37): Show c.2545-581_2545-580insAAAATATATATATATATATA	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	24/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51489286	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0039 a0002c0001t0004g0039	1	152	0.0066	20	c.34- others(35): Show c.34-7992_34-7973dupATATATATATATATATATAT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51508186	G G	GAGAAAAG others(13): Show GAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02723.hp1 HG02055.hp2 HG02258.hp2 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0002c0001t0005 a0002c0001t0023 a0001c0002t0003 a0002c0001t0005 a0002c0001t0023	a0001c0002t0003g0106 a0002c0001t0005g0146 a0002c0001t0023g0151 a0001c0002t0003g0106 a0002c0001t0005g0146 a0002c0001t0023g0151	3	152	0.0197	20	c.33+ others(37): Show c.33+10993_33+11012dupTTTCTTTTCTTTTCTTTTCT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51508240	A A	AAAGAAAA others(13): Show AAAGAAAAGAAAAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	152	0.0066	20	c.33+ others(37): Show c.33+10958_33+10959insCTCTCTTCTTTTCTTTTCTT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPS8L2_chr11_701231_732727	720958	C C	CCCGGCAG others(13): Show CCCGGCAGGGGAGGGGAGGAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02451.hp2 HG02622.hp1 others(3): Show HG02080.hp1 HG02451.hp2 HG02622.hp1 HG02683.hp2 HG02886.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0012 a0001c0005t0003 a0002c0010t0008	a0001c0001t0001g0256 a0001c0001t0002g0292 a0001c0001t0002g0293 others(3): Show a0001c0001t0001g0256 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0003t0012g0265 a0001c0005t0003g0085 a0002c0010t0008g0356	6	406	0.0148	20	c.557 others(33): Show c.557+72_558-64dupGGCAGGGGAGGGGAGGAGCC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L2_chr11_701231_732727	720985	G G	GGGGAGGG others(13): Show GGGGAGGGGAGGAGCCCGGCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01261.hp1 others(2): Show HG00323.hp2 HG01167.hp1 HG01261.hp1 HG03041.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0004 a0001c0003t0009	a0001c0001t0004g0080 a0001c0002t0001g0303 a0001c0002t0001g0315 others(2): Show a0001c0001t0004g0080 a0001c0002t0001g0303 a0001c0002t0001g0315 a0001c0002t0004g0041 a0001c0003t0009g0132	5	406	0.0123	20	c.558 others(33): Show c.558-71_558-52dupGAGGAGCCCGGCAGGGAGGG	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPSTI1_chr13_42881388_42997241	42881607	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG02896.hp2 HG01993.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0007 a0001c0001t0019 a0001c0002t0007	a0001c0001t0019g0309 a0001c0002t0007g0310 a0001c0001t0019g0309 a0001c0002t0007g0310	2	352	0.0057	20	c.68 others(31): Show c.6886_*6887insCACACACACACACACACACA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding		4780		chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42938914	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02040.hp1 HG02148.hp1 others(4): Show HG01934.hp1 HG02040.hp1 HG02148.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0019 a0001c0001t0055 others(4): Show a0001c0001t0008 a0001c0001t0019 a0001c0001t0055 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0023	a0001c0001t0008g0123 a0001c0001t0019g0281 a0001c0001t0055g0221 others(4): Show a0001c0001t0008g0123 a0001c0001t0019g0281 a0001c0001t0055g0221 a0001c0002t0001g0049 a0001c0002t0003g0272 a0001c0002t0007g0271 a0001c0002t0023g0100	7	352	0.0199	20	c.564 others(39): Show c.564-12486_564-12485insTTTTTTTTTTTTTTTTTTTT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10			chr13	TogoVar
ERAP1_chr5_96769484_96812945	96808187	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0007 a0008c0007t0007	a0008c0007t0007g0085 a0008c0007t0007g0085	1	416	0.0024	20	c.-34 others(29): Show c.-346_-345insACACACACACACACACACAC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		243		chr5	TogoVar
ERAP2_chr5_96871500_96924703	96874136	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	398	0.0025	20	c.-25 others(31): Show c.-2514_-2513insAGAAAGAAAGAAAGAAAGAA	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding		2363		chr5	TogoVar
ERAP2_chr5_96871500_96924703	96914148	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0032 a0003c0003t0004g0032	2	398	0.0050	20	c.265 others(37): Show c.2657+692_2657+711dupCACACACACACACACACACA	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(13): Show TCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0274 a0003c0003t0004g0274	1	398	0.0025	20	c.265 others(37): Show c.2657+692_2657+693insTCACACACACACACACACAC	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(13): Show TACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	318	0.0031	20	c.-45 others(31): Show c.-4535_-4534insACACACACACACACACACAC	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding		4359		chr17	TogoVar
ERBB2_chr17_39695064_39733658	39724272	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01517.hp1 HG02559.hp2 others(4): Show HG01358.hp1 HG01517.hp1 HG02559.hp2 NA18747.hp2 NA18955.hp1 NA18986.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0003c0003 a0001c0004 a0002c0002 a0003c0003	a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 a0001c0004t0001 a0002c0002t0001 a0003c0003t0001	a0001c0004t0001g0099 a0002c0002t0001g0009 a0002c0002t0001g0117 others(1): Show a0001c0004t0001g0099 a0002c0002t0001g0009 a0002c0002t0001g0117 a0003c0003t0001g0009	7	318	0.0220	20	c.230 others(37): Show c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTT	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(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02970.hp2 HG03139.hp1 HG02809.hp1 HG02970.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0321 a0001c0001t0002g0325 a0001c0001t0010g0226 a0001c0001t0002g0321 a0001c0001t0002g0325 a0001c0001t0010g0226	3	392	0.0077	20	c.111 others(39): Show c.1110-1470_1110-1451dupTATATATATATATATATATA	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	9/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERBB4_chr2_211370717_212543802	211426125	A A	AATAAACA others(13): Show AATAAACAAACAGCAACATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp2 HG01192.hp1 others(49): Show HG01069.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0002t0001 a0001c0002t0013 a0001c0002t0016 a0001c0004t0021 a0002c0003t0001	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0016 others(49): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0047 a0001c0001t0003g0017 a0001c0001t0003g0040 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0033 a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0005g0044 a0001c0001t0006g0026 a0001c0001t0006g0039 a0001c0001t0007g0018 a0001c0001t0007g0043 a0001c0001t0008g0004 a0001c0001t0008g0013 a0001c0001t0009g0023 a0001c0001t0009g0046 a0001c0001t0010g0005 a0001c0001t0010g0022 a0001c0001t0011g0041 a0001c0001t0011g0042 a0001c0001t0012g0001 a0001c0001t0014g0007 a0001c0001t0015g0034 a0001c0001t0017g0029 a0001c0001t0019g0002 a0001c0001t0020g0028 a0001c0001t0022g0006 a0001c0001t0023g0012 a0001c0001t0024g0038 a0001c0001t0025g0051 a0001c0001t0026g0052 a0001c0001t0027g0055 a0001c0001t0028g0053 a0001c0001t0029g0054 a0001c0001t0030g0056 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0048 a0001c0002t0013g0027 a0001c0002t0016g0019 a0001c0004t0021g0009 a0002c0003t0001g0014	52	56	0.9286	20	c.272 others(39): Show c.2720-1825_2720-1824insATATGTTGCTGTTTGTTTAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	22/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211515896	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	56	0.0179	20	c.248 others(41): Show c.2487+46006_2487+46007insTATATATATATATATATAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211515912	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02145.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0002t0001 a0001c0001t0029 a0001c0002t0001	a0001c0001t0029g0054 a0001c0002t0001g0020 a0001c0001t0029g0054 a0001c0002t0001g0020	2	56	0.0357	20	c.248 others(41): Show c.2487+45990_2487+45991insAAAATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211560262	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19043.hp2 HG02809.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0040 a0001c0001t0005g0044 a0001c0001t0003g0040 a0001c0001t0005g0044	2	56	0.0357	20	c.248 others(39): Show c.2487+1621_2487+1640dupAAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211673517	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03579.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0017 a0001c0004t0021 a0001c0001t0017 a0001c0004t0021	a0001c0001t0017g0029 a0001c0004t0021g0009 a0001c0001t0017g0029 a0001c0004t0021g0009	2	56	0.0357	20	c.162 others(37): Show c.1623-261_1623-260insTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	13/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211721620	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0041 a0001c0001t0011g0041	1	56	0.0179	20	c.883 others(35): Show c.883+753_883+772dupATATATATATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	7/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211934926	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	56	0.0179	20	c.421 others(39): Show c.421+12503_421+12504insTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211978396	G G	GTCTTTCT others(13): Show GTCTTTCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	56	0.0179	20	c.235 others(39): Show c.235-30781_235-30780insTAGATAGATAGATAGAAAGA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar

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