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
EPHA5_chr4_65314567_65675489	65409346	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02135.hp2 NA18967.hp2 HG01123.hp1 HG02135.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0047 a0001c0001t0005g0187 a0001c0001t0005g0211 a0001c0001t0003g0047 a0001c0001t0005g0187 a0001c0001t0005g0211	3	234	0.0128	24	c.168 others(43): Show c.1688-4891_1688-4868dupATTTATTTATTTATTTATTTATTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	7/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65522316	G G	GTATATAT others(17): Show GTATATATATATATATATATACATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0150 a0001c0002t0010g0150	1	234	0.0043	24	c.911 others(43): Show c.911-26774_911-26773insTATGTATATATATATATATATATA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65522316	G G	GTATATAT others(17): Show GTATATATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02572.hp2 others(11): Show HG02145.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0003 a0001c0001t0012 a0001c0001t0018 others(9): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0018 a0001c0001t0023 a0001c0001t0027 a0001c0001t0031 a0001c0001t0036 a0001c0001t0045 a0001c0001t0053 a0001c0002t0029 a0001c0003t0006 a0001c0009t0059	a0001c0001t0003g0090 a0001c0001t0012g0006 a0001c0001t0012g0008 others(11): Show a0001c0001t0003g0090 a0001c0001t0012g0006 a0001c0001t0012g0008 a0001c0001t0012g0010 a0001c0001t0018g0023 a0001c0001t0023g0195 a0001c0001t0027g0140 a0001c0001t0031g0001 a0001c0001t0036g0007 a0001c0001t0045g0091 a0001c0001t0053g0178 a0001c0002t0029g0162 a0001c0003t0006g0121 a0001c0009t0059g0232	14	234	0.0598	24	c.911 others(43): Show c.911-26774_911-26773insTGTATATATATATATATATATATA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65522316	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0044 a0001c0006t0044	a0001c0006t0044g0038 a0001c0006t0044g0038	1	234	0.0043	24	c.911 others(43): Show c.911-26774_911-26773insTATATATATATATATATATATATA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65522316	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp2 HG02895.hp1 others(1): Show HG02280.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0108 a0001c0001t0019g0104 a0001c0001t0019g0106 others(1): Show a0001c0001t0006g0108 a0001c0001t0019g0104 a0001c0001t0019g0106 a0001c0001t0019g0110	4	234	0.0171	24	c.911 others(43): Show c.911-26774_911-26773insTATATATATATATATATACACACA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65557233	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02523.hp2 HG02698.hp1 HG00438.hp2 HG02523.hp2 HG02698.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0007 a0001c0001 a0001c0004 a0003c0007	a0001c0001t0005 a0001c0004t0001 a0003c0007t0002 a0001c0001t0005 a0001c0004t0001 a0003c0007t0002	a0001c0001t0005g0204 a0001c0004t0001g0126 a0003c0007t0002g0161 a0001c0001t0005g0204 a0001c0004t0001g0126 a0003c0007t0002g0161	3	234	0.0128	24	c.910 others(43): Show c.910+44384_910+44407dupATATATATATATATATATATATAT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576112	A A	AAAAGAAA others(17): Show AAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0171 a0001c0002t0002g0171	1	234	0.0043	24	c.910 others(43): Show c.910+25528_910+25529insCTTTTCTTTTCTTTTCTTTTCTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65656576	T T	TTATATAT others(17): Show TTATATATATATTATATATATATAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0118 a0001c0003t0020g0118	1	234	0.0043	24	c.181 others(43): Show c.181+12962_181+12985dupTTATATATATATAATATATATATA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	1/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	96994732	T T	TATATATA others(17): Show TATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0042 a0001c0002t0020g0042	1	82	0.0122	24	c.111 others(43): Show c.1114+6740_1114+6741insTATATAGAGAGAGAGAGAGAGAGA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	96994732	T T	TATATATA others(17): Show TATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	82	0.0122	24	c.111 others(43): Show c.1114+6740_1114+6741insTATATATAGAGAGAGAGAGAGAGA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97001017	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	82	0.0122	24	c.111 others(45): Show c.1114+13038_1114+13039insATATATATATATATATATATATAT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97085928	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	82	0.0122	24	c.111 others(45): Show c.1114+97956_1114+97957insTATATATATATATATATATATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97124469	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03540.hp1 NA19240.hp1 others(1): Show HG02280.hp1 HG03540.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0006 a0001c0002 a0001c0005 a0001c0006	a0001c0002t0001 a0001c0002t0025 a0001c0005t0004 others(1): Show a0001c0002t0001 a0001c0002t0025 a0001c0005t0004 a0001c0006t0002	a0001c0002t0001g0009 a0001c0002t0025g0008 a0001c0005t0004g0046 others(1): Show a0001c0002t0001g0009 a0001c0002t0025g0008 a0001c0005t0004g0046 a0001c0006t0002g0047	4	82	0.0488	24	c.111 others(47): Show c.1115-101785_1115-101762dupAAGAAAGAAAGAAAGAAAGAAA GA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97407347	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0034 a0001c0002t0007g0034	1	82	0.0122	24	c.173 others(43): Show c.1731+2078_1731+2101dupACACACACACACACACACACACAC	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97493623	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19081.hp1 NA21309.hp1 HG02922.hp1 NA19081.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0003t0013 a0001c0001t0002 a0001c0003t0002 a0001c0003t0013	a0001c0001t0002g0021 a0001c0003t0002g0036 a0001c0003t0013g0001 a0001c0001t0002g0021 a0001c0003t0002g0036 a0001c0003t0013g0001	3	82	0.0366	24	c.220 others(43): Show c.2200+9583_2200+9584insGTGTGTGTGTGTGTGTGTGTGTGT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA7_chr6_93235020_93424559	93311114	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG01884.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0171 a0001c0002t0002g0017 a0001c0002t0002g0171	2	280	0.0071	24	c.132 others(45): Show c.1325-38716_1325-38693dupAAAAAAAAAAAAAAAAAAAAAAAA	EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	5/16			chr6	TogoVar
EPHA8_chr1_22558489_22608595	22585050	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGCGCGTGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp2 HG03139.hp2 others(3): Show HG02818.hp2 HG02976.hp2 HG03139.hp2 HG03516.hp2 HG03579.hp1 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0014 a0002c0004t0032 a0002c0004t0011 a0002c0004t0014 a0002c0004t0032	a0002c0004t0011g0061 a0002c0004t0011g0181 a0002c0004t0014g0003 others(1): Show a0002c0004t0011g0061 a0002c0004t0011g0181 a0002c0004t0014g0003 a0002c0004t0032g0179	6	342	0.0175	24	c.824 others(41): Show c.824-1429_824-1428insTGTGTGTGTGTGTGTGCGCGTGCG	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(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01346.hp1 others(13): Show HG00140.hp2 HG01074.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG02683.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 NA18612.hp1 NA18940.hp2 NA18964.hp1 NA18992.hp1 NA19063.hp1 NA19064.hp1 NA19091.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0022	a0001c0021 a0002c0003 a0002c0054 others(2): Show a0001c0021 a0002c0003 a0002c0054 a0009c0052 a0022c0050	a0001c0021t0002 a0002c0003t0002 a0002c0003t0023 others(4): Show a0001c0021t0002 a0002c0003t0002 a0002c0003t0023 a0002c0003t0043 a0002c0054t0002 a0009c0052t0009 a0022c0050t0002	a0001c0021t0002g0093 a0002c0003t0002g0009 a0002c0003t0002g0082 others(12): Show a0001c0021t0002g0093 a0002c0003t0002g0009 a0002c0003t0002g0082 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0085 a0002c0003t0002g0086 a0002c0003t0002g0092 a0002c0003t0002g0097 a0002c0003t0023g0087 a0002c0003t0023g0088 a0002c0003t0043g0182 a0002c0054t0002g0078 a0009c0052t0009g0029 a0022c0050t0002g0071	16	342	0.0468	24	c.824 others(41): Show c.824-1429_824-1428insTGTGTGTGTGTGTGTGTGTGCGCG	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB1_chr3_134790260_135265467	134811242	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04228.hp2 HG04204.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0062 a0001c0003t0002g0061 a0001c0003t0001g0062 a0001c0003t0002g0061	2	134	0.0149	24	c.58+ others(41): Show c.58+15574_58+15575insTTTTTTTTTTTTTTTTTTTTTTTT	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(17): Show CCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0006 a0001c0003t0003g0006	1	134	0.0075	24	c.59- others(41): Show c.59-43048_59-43047insCCTTTCTTTCTTTCTTTCTTTCTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135053023	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0118 a0001c0002t0025g0118	1	134	0.0075	24	c.806 others(43): Show c.806-53424_806-53423insATATATATATATATATATATATAT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135076260	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02818.hp2 HG01123.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0017 a0001c0006t0026 a0001c0001t0017 a0001c0006t0026	a0001c0001t0017g0059 a0001c0006t0026g0117 a0001c0001t0017g0059 a0001c0006t0026g0117	2	134	0.0149	24	c.806 others(43): Show c.806-30187_806-30186insTATATATATATATATATATATAAA	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB3_chr3_184556785_184587408	184576217	T T	TTCCTAGC others(17): Show TTCCTAGCCATGCTCAGGAACTGGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0083 a0001c0012t0005g0083	1	358	0.0028	24	c.101 others(41): Show c.1012+253_1012+254insGGCTCCTAGCCATGCTCAGGAACT	EPHB3	ENSG00000182580.3	transcript	ENST00000330394.3	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB3_chr3_184556785_184587408	184576217	T T	TTCCTAGC others(17): Show TTCCTAGCCATGCTCAGGAACTTGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG02280.hp2 others(11): Show HG00438.hp1 HG00558.hp1 HG02280.hp2 HG02723.hp1 NA18944.hp2 NA18952.hp1 NA18962.hp1 NA18969.hp1 NA18994.hp2 NA19056.hp1 NA19062.hp1 NA19075.hp2 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0009 a0001c0004t0029 a0001c0003t0002 a0001c0004t0009 a0001c0004t0029	a0001c0003t0002g0010 a0001c0003t0002g0013 a0001c0003t0002g0071 others(6): Show a0001c0003t0002g0010 a0001c0003t0002g0013 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0075 a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0004t0009g0168 a0001c0004t0029g0198	14	358	0.0391	24	c.101 others(41): Show c.1012+254_1012+277dupTGCTCCTAGCCATGCTCAGGAACT	EPHB3	ENSG00000182580.3	transcript	ENST00000330394.3	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB3_chr3_184556785_184587408	184576239	T T	TGCTCCTA others(17): Show TGCTCCTAGCCATGCTCAGGAACTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG04204.hp2 NA18971.hp2 HG02572.hp2 HG04204.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0003t0002 a0001c0010t0006 a0001c0001t0001 a0001c0003t0002 a0001c0010t0006	a0001c0001t0001g0106 a0001c0003t0002g0062 a0001c0010t0006g0182 a0001c0001t0001g0106 a0001c0003t0002g0062 a0001c0010t0006g0182	3	358	0.0084	24	c.101 others(41): Show c.1012+282_1012+305dupCCTAGCCATGCTCAGGAACTGGCT	EPHB3	ENSG00000182580.3	transcript	ENST00000330394.3	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHX2_chr8_27486143_27550564	27501389	T T	TCTTCTTC others(17): Show TCTTCTTCTTCCTTCTTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0321 a0003c0007t0004g0321	1	374	0.0027	24	c.186 others(39): Show c.186+385_186+386insCTTCCTTCTTCCTTCTTCCTTCTT	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPHX4_chr1_92024985_92068538	92030483	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01123.hp1 HG01891.hp1 others(3): Show HG01070.hp2 HG01123.hp1 HG01891.hp1 HG02148.hp1 HG03130.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0175 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177	6	236	0.0254	24	c.231 others(39): Show c.231+176_231+177insTGTGTGTGTGTGTGTGTGTGAGTG	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX4_chr1_92024985_92068538	92030490	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA21309.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0194 a0001c0001t0001g0195	2	236	0.0085	24	c.231 others(39): Show c.231+180_231+181insTGTGTGTGTGTGTGTGTGTGTGTA	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6			chr1	TogoVar
EPM2A_chr6_145620305_145740520	145628630	A A	AGGGGGGG others(17): Show AGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0122 a0004c0008t0002g0122	1	320	0.0031	24	c.719 others(39): Show c.719-938_719-937insCCCCCCCCCCCCCCCCCCCCCCCC	EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	3/3			chr6	TogoVar
EPN2_chr17_19232366_19341715	19276773	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0098 a0001c0001t0007g0098	1	282	0.0036	24	c.-29 others(43): Show c.-293-5164_-293-5163insTTTTTTTTTTTTTTTTTTTTTTTT	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(17): Show GTTTTGTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	282	0.0036	24	c.766 others(41): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTTTTTT	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(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	282	0.0036	24	c.766 others(41): Show c.766+3954_766+3955insTTTTTTTTTTTTTTTTTTTTTTTT	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(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	282	0.0036	24	c.114 others(43): Show c.1147+5288_1147+5289insAAAAAAAAAAAAAAAAAAAAAAAA	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(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	404	0.0050	24	c.-48 others(33): Show c.-484_-461dupGAGAGAGAGAGAGAGAGAGAGAGA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		354		chr19	TogoVar
EPOR_chr19_11372207_11389314	11384705	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 NA19067.hp1 HG00738.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	404	0.0050	24	c.-52 others(33): Show c.-522_-499dupGGAAGGAAGGAAGGAAGGAAGGAA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		392		chr19	TogoVar
EPOR_chr19_11372207_11389314	11384750	T T	TTCCTTCC others(17): Show TTCCTTCCTTCCTTCCTTCCTTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	404	0.0050	24	c.-54 others(33): Show c.-544_-543insGGGAAGGAAGGAAGGAAGGAAGGA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		437		chr19	TogoVar
EPPK1_chr8_143852324_143883467	143855426	C C	CTATATAT others(17): Show CTATATATCTATATCTATATATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG02109.hp1 others(5): Show HG01109.hp2 HG01175.hp2 HG02109.hp1 HG02559.hp2 HG02965.hp2 HG03486.hp2 HG03579.hp2 NA18943.hp2	a0050 a0083 a0088 others(4): Show a0050 a0083 a0088 a0118 a0129 a0145 a0187	a0050c0165 a0050c0166 a0083c0053 others(5): Show a0050c0165 a0050c0166 a0083c0053 a0088c0171 a0118c0345 a0129c0163 a0145c0160 a0187c0297	a0050c0165t0009 a0050c0166t0009 a0083c0053t0009 others(5): Show a0050c0165t0009 a0050c0166t0009 a0083c0053t0009 a0088c0171t0009 a0118c0345t0009 a0129c0163t0009 a0145c0160t0009 a0187c0297t0002	a0050c0165t0009g0225 a0050c0166t0009g0226 a0083c0053t0009g0211 others(5): Show a0050c0165t0009g0225 a0050c0166t0009g0226 a0083c0053t0009g0211 a0088c0171t0009g0200 a0118c0345t0009g0034 a0129c0163t0009g0223 a0145c0160t0009g0031 a0187c0297t0002g0193	8	424	0.0189	24	c.25 others(35): Show c.2560_*2561insTAGATATATAGATATAGATATATA	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding		1897		chr8	TogoVar
EPS15L1_chr19_16350247_16476970	16369676	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	276	0.0036	24	c.238 others(43): Show c.2380+7422_2380+7445dupACACACACACACACACACACACAC	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	22/23			chr19	TogoVar
EPS8L2_chr11_701231_732727	720978	G G	GCCGGCAG others(17): Show GCCGGCAGGGAGGGAGGGGAGGAGC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0300	1	406	0.0025	24	c.558 others(37): Show c.558-77_558-76insAGGGAGGGGAGGAGCCCGGCAGGG	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPSTI1_chr13_42881388_42997241	42882939	C C	CTCTCTCT others(17): Show CTCTCTCTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0036 a0001c0001t0039g0036	1	352	0.0028	24	c.55 others(35): Show c.5554_*5555insCACACACACACACACACAGAGAGA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding		3448		chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42926026	T T	TGGAAGGA others(17): Show TGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18612.hp1 NA18942.hp2 others(6): Show HG03654.hp1 NA18612.hp1 NA18942.hp2 NA18961.hp1 NA18966.hp2 NA18986.hp2 NA19004.hp1 NA19077.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0012 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0015 a0001c0002t0003 a0001c0002t0011 a0001c0002t0025 a0001c0002t0048	a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0012g0220 others(6): Show a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0012g0220 a0001c0001t0015g0226 a0001c0002t0003g0228 a0001c0002t0003g0231 a0001c0002t0011g0024 a0001c0002t0025g0232 a0001c0002t0048g0233	9	352	0.0256	24	c.657 others(39): Show c.657+309_657+310insTTCCTTCCTTCCTTCCTTCCTTCC	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42926041	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01106.hp1 others(14): Show HG00639.hp1 HG00639.hp2 HG01106.hp1 HG01243.hp2 HG01358.hp2 HG01496.hp2 HG02258.hp1 HG02572.hp2 HG02630.hp1 HG02970.hp2 HG03098.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA18983.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0008c0015	a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 others(10): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0001c0002t0020 a0001c0002t0045 a0001c0005t0008 a0008c0015t0002	a0001c0001t0002g0219 a0001c0001t0015g0322 a0001c0001t0016g0293 others(14): Show a0001c0001t0002g0219 a0001c0001t0015g0322 a0001c0001t0016g0293 a0001c0001t0018g0017 a0001c0001t0022g0008 a0001c0001t0022g0112 a0001c0001t0024g0321 a0001c0002t0003g0324 a0001c0002t0007g0244 a0001c0002t0007g0267 a0001c0002t0007g0347 a0001c0002t0011g0009 a0001c0002t0011g0015 a0001c0002t0020g0150 a0001c0002t0045g0294 a0001c0005t0008g0013 a0008c0015t0002g0243	17	352	0.0483	24	c.657 others(39): Show c.657+294_657+295insACCTTCCTTCCTTCCTTCCTTCCT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42965679	G G	GTCCCTCT others(17): Show GTCCCTCTCCCTCTCCCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18957.hp2 NA18966.hp2 others(2): Show HG01891.hp1 NA18957.hp2 NA18966.hp2 NA18991.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0003 a0001c0002t0006 others(1): Show a0001c0001t0015 a0001c0002t0003 a0001c0002t0006 a0001c0002t0025	a0001c0001t0015g0240 a0001c0002t0003g0231 a0001c0002t0006g0257 others(2): Show a0001c0001t0015g0240 a0001c0002t0003g0231 a0001c0002t0006g0257 a0001c0002t0025g0230 a0001c0002t0025g0232	5	352	0.0142	24	c.332 others(41): Show c.332-1564_332-1541dupGAGGGAGAGGGAGAGGGAGAGGGA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42965679	G G	GTCCCTCT others(17): Show GTCCCTCTCCCTGTCCCTCTCCCTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0239 a0001c0002t0003g0239	1	352	0.0028	24	c.332 others(41): Show c.332-1541_332-1540insGAGGGAGAGGGACAGGGAGAGGGA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42965768	T T	TCATCTCC others(17): Show TCATCTCCCTCTCCCTCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01934.hp2 HG00642.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0175 a0001c0002t0005g0181 a0001c0002t0001g0175 a0001c0002t0005g0181	2	352	0.0057	24	c.332 others(41): Show c.332-1630_332-1629insGAGAGGGAGAGGGAGAGGGAGATG	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
ERAP1_chr5_96769484_96812945	96808187	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0007 a0007c0007t0007	a0007c0007t0007g0089 a0007c0007t0007g0089	1	416	0.0024	24	c.-34 others(33): Show c.-346_-345insACACACACACACACACACACACAC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		243		chr5	TogoVar
ERAP2_chr5_96871500_96924703	96912981	T T	TGTTTCAT others(17): Show TGTTTCATAACTAATTAGTTTCATA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0104 a0002c0002t0003g0104	1	398	0.0025	24	c.251 others(41): Show c.2516+183_2516+184insGTTTCATAACTAATTAGTTTCATA	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	16/18			chr5	TogoVar
ERAP2_chr5_96871500_96924703	96914148	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18968.hp1 NA18981.hp2 others(1): Show NA18950.hp1 NA18968.hp1 NA18981.hp2 NA18990.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0009 a0003c0003t0004 a0003c0003t0009	a0003c0003t0004g0033 a0003c0003t0004g0277 a0003c0003t0009g0287 a0003c0003t0004g0033 a0003c0003t0004g0277 a0003c0003t0009g0287	4	398	0.0101	24	c.265 others(41): Show c.2657+711_2657+712insCACACACACACACACACACACACA	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(17): Show TCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18994.hp2 NA18973.hp2 NA18994.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0034 a0003c0003t0009g0034	2	398	0.0050	24	c.265 others(41): Show c.2657+692_2657+693insTCACACACACACACACACACACAC	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(17): Show TACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	318	0.0031	24	c.-45 others(35): Show c.-4535_-4534insACACACACACACACACACACACAC	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding		4359		chr17	TogoVar

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