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
EPN2_chr17_19232366_19341715	19276773	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG03486.hp2 others(2): Show HG02486.hp1 HG02559.hp2 HG03486.hp2 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0108 others(2): Show a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110	5	282	0.0177	11	c.-29 others(30): Show c.-293-5174_-293-5164dupTTTTTTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	282	0.0036	11	c.114 others(30): Show c.1147+5278_1147+5288dupAAAAAAAAAAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPOR_chr19_11372207_11389314	11384667	T T	TCTCTCTC others(4): Show TCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	404	0.0025	11	c.-46 others(20): Show c.-461_-460insGAGAGAGAGAG	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		354		chr19	TogoVar
EPOR_chr19_11372207_11389314	11384703	C C	CTCTCTCT others(4): Show CTCTCTCTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	404	0.0025	11	c.-49 others(20): Show c.-497_-496insAAGGAGAGAGA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		390		chr19	TogoVar
EPOR_chr19_11372207_11389314	11384703	C C	CTCTCTCT others(4): Show CTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18971.hp2 NA18978.hp1 others(6): Show HG02040.hp1 NA18971.hp2 NA18978.hp1 NA18981.hp1 NA18986.hp1 NA19002.hp2 NA19007.hp1 NA19076.hp2 NA19088.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0009c0013t0001 a0001c0001t0001 a0009c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0047 a0001c0001t0001g0049 a0009c0013t0001g0060	9	404	0.0223	11	c.-49 others(20): Show c.-497_-496insAGAGAGAGAGA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		390		chr19	TogoVar
EPOR_chr19_11372207_11389314	11385852	A A	ACTCCCCA others(4): Show ACTCCCCACTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	404	0.0025	11	c.-16 others(22): Show c.-1646_-1645insGCAGTGGGGAG	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		1539		chr19	TogoVar
EPRS1_chr1_219963600_220051505	220044681	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp1 HG02965.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0003c0006t0001 a0001c0001t0002 a0003c0006t0001	a0001c0001t0002g0314 a0003c0006t0001g0030 a0001c0001t0002g0314 a0003c0006t0001g0030	2	358	0.0056	11	c.46+ others(26): Show c.46+1651_46+1661dupTTTTTTTTTTT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	1/31			chr1	TogoVar
EPS15L1_chr19_16350247_16476970	16400336	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01943.hp2 HG01981.hp1 others(1): Show HG01346.hp1 HG01943.hp2 HG01981.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0018	4	276	0.0145	11	c.179 others(30): Show c.1791+1974_1791+1984dupTTTTTTTTTTT	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	16/23			chr19	TogoVar
EPS15_chr1_51349263_51524266	51357376	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0023 a0002c0001t0023	a0002c0001t0023g0151 a0002c0001t0023g0151	1	152	0.0066	11	c.254 others(28): Show c.2545-541_2545-531dupTTTTTTTTTTT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	24/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51357391	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0141 a0002c0001t0005g0141	1	152	0.0066	11	c.254 others(28): Show c.2545-546_2545-545insATTTTTTTTTT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	24/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51357426	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0010 a0002c0001t0010	a0002c0001t0010g0044 a0002c0001t0010g0044	1	152	0.0066	11	c.254 others(28): Show c.2545-581_2545-580insAAAAATATATA	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	24/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51358699	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0130 a0002c0001t0011g0130	1	152	0.0066	11	c.254 others(30): Show c.2545-1854_2545-1853insAAAAAAAAAAA	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	24/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51369023	C C	CCTTTTCT others(4): Show CCTTTTCTCTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01192.hp1 others(6): Show HG00733.hp2 HG00735.hp1 HG01192.hp1 HG01515.hp2 HG01517.hp2 HG02109.hp1 HG02922.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 others(6): Show a0002c0001t0004g0018 a0002c0001t0004g0019 a0002c0001t0004g0020 a0002c0001t0004g0021 a0002c0001t0004g0022 a0002c0001t0004g0023 a0002c0001t0004g0024 a0002c0001t0004g0025 a0002c0001t0004g0124	9	152	0.0592	11	c.212 others(30): Show c.2120-3005_2120-2995dupACAGAGAAAAG	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	21/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51400712	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0026 a0004c0010t0026	a0004c0010t0026g0129 a0004c0010t0026g0129	1	152	0.0066	11	c.191 others(28): Show c.1918+195_1918+205dupTTTTTTTTTTT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	19/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51462870	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA20129.hp2 HG01109.hp2 NA20129.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0010 a0002c0001 a0004c0010	a0002c0001t0007 a0004c0010t0026 a0002c0001t0007 a0004c0010t0026	a0002c0001t0007g0134 a0004c0010t0026g0129 a0002c0001t0007g0134 a0004c0010t0026g0129	2	152	0.0132	11	c.501 others(26): Show c.501+792_501+802dupAAAAAAAAAAA	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	7/24			chr1	TogoVar
EPS15_chr1_51349263_51524266	51508238	G G	GAAAAGAA others(4): Show GAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03486.hp2 HG01884.hp2 HG03486.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0021 a0002c0001t0005 a0002c0001t0021	a0002c0001t0005g0149 a0002c0001t0021g0147 a0002c0001t0005g0149 a0002c0001t0021g0147	2	152	0.0132	11	c.33+ others(28): Show c.33+10960_33+10961insTCTTTTCTTTT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPS8L1_chr19_55070869_55092923	55071614	A A	AGCCCGTC others(4): Show AGCCCGTCCAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	340	0.0029	11	c.-43 others(22): Show c.-4343_-4342insGCCCGTCCAAC	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding		4254		chr19	TogoVar
EPS8_chr12_15615134_15794388	15663935	A A	AATAATAA others(4): Show AATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp1 HG02258.hp2 others(3): Show HG00733.hp2 HG01261.hp1 HG02258.hp2 HG03579.hp2 HG06807.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0024 a0001c0001t0001g0085 a0001c0001t0001g0087 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0009g0057	6	102	0.0588	11	c.736 others(28): Show c.736+1820_736+1821insATTATTATTAT	EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	8/20			chr12	TogoVar
EPS8_chr12_15615134_15794388	15663938	A A	AATAATAA others(4): Show AATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00738.hp1 HG00738.hp2 others(11): Show HG00597.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01243.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02622.hp1 HG03017.hp1 HG03516.hp2 HG03831.hp1 NA18944.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0008 a0001c0001 a0001c0009 a0004c0008	a0001c0001t0001 a0001c0001t0007 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0009t0001 a0004c0008t0001	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0029 others(11): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0007g0084 a0001c0009t0001g0088 a0004c0008t0001g0028	14	102	0.1373	11	c.736 others(28): Show c.736+1817_736+1818insATTATTATTAT	EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	8/20			chr12	TogoVar
EPS8_chr12_15615134_15794388	15663941	A A	AATAATAA others(4): Show AATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01243.hp2 others(5): Show HG00621.hp1 HG00621.hp2 HG01243.hp2 HG02132.hp2 HG02523.hp2 HG03017.hp2 HG03831.hp2 NA19062.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0082 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0100 a0003c0006t0001g0046 a0003c0006t0001g0091	8	102	0.0784	11	c.736 others(28): Show c.736+1814_736+1815insATTATTATTAT	EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	8/20			chr12	TogoVar
EPS8_chr12_15615134_15794388	15663944	A A	AATAATAA others(4): Show AATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 homoSapiens_chm13v2.hp1 NA19062.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0007g0093 a0001c0002t0001g0047 a0001c0001t0007g0093 a0001c0002t0001g0047	2	102	0.0196	11	c.736 others(28): Show c.736+1811_736+1812insATTATTATTAT	EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	8/20			chr12	TogoVar
EPS8_chr12_15615134_15794388	15780481	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0081 a0002c0004t0001g0081	1	102	0.0098	11	c.-22 others(28): Show c.-22+8679_-22+8680insGTGTGTGTGTG	EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	1/20			chr12	TogoVar
EPSTI1_chr13_42881388_42997241	42938914	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01169.hp2 HG01243.hp2 others(23): Show HG00733.hp1 HG01169.hp2 HG01243.hp2 HG02056.hp1 HG02258.hp1 HG02630.hp1 HG02970.hp1 HG03041.hp2 HG03225.hp1 HG03654.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18942.hp2 NA18946.hp2 NA18957.hp2 NA18961.hp1 NA18966.hp2 NA18967.hp2 NA18986.hp2 NA18991.hp1 NA19004.hp1 NA19077.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(14): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0020 a0001c0002t0025 a0001c0002t0048 a0001c0005t0008	a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0299 others(23): Show a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0316 a0001c0001t0004g0164 a0001c0001t0012g0220 a0001c0001t0013g0041 a0001c0001t0015g0226 a0001c0001t0015g0240 a0001c0001t0018g0018 a0001c0001t0021g0169 a0001c0002t0001g0122 a0001c0002t0003g0228 a0001c0002t0003g0231 a0001c0002t0007g0347 a0001c0002t0009g0109 a0001c0002t0010g0227 a0001c0002t0011g0015 a0001c0002t0011g0016 a0001c0002t0011g0024 a0001c0002t0020g0150 a0001c0002t0025g0230 a0001c0002t0025g0232 a0001c0002t0048g0233 a0001c0005t0008g0013	26	352	0.0739	11	c.564 others(30): Show c.564-12496_564-12486dupTTTTTTTTTTT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42968954	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0030 a0001c0001t0018g0030	1	352	0.0028	11	c.331 others(26): Show c.331+139_331+140insGTGTGTGTGTG	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42983563	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01891.hp1 HG00642.hp1 HG01074.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0001t0034 a0001c0002t0006 a0001c0001t0021 a0001c0001t0034 a0001c0002t0006	a0001c0001t0021g0170 a0001c0001t0034g0171 a0001c0002t0006g0257 a0001c0001t0021g0170 a0001c0001t0034g0171 a0001c0002t0006g0257	3	352	0.0085	11	c.188 others(28): Show c.188+8404_188+8414dupTTTTTTTTTTT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	1/10			chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42989567	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp2 HG01243.hp2 others(7): Show HG01106.hp2 HG01175.hp2 HG01243.hp2 HG01934.hp2 HG02145.hp1 HG02293.hp2 HG02572.hp2 HG02622.hp2 HG02683.hp1 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0011 a0001c0001 a0001c0002 a0005c0011	a0001c0001t0004 a0001c0001t0022 a0001c0002t0001 others(4): Show a0001c0001t0004 a0001c0001t0022 a0001c0002t0001 a0001c0002t0005 a0001c0002t0011 a0001c0002t0020 a0005c0011t0006	a0001c0001t0004g0152 a0001c0001t0022g0008 a0001c0001t0022g0010 others(7): Show a0001c0001t0004g0152 a0001c0001t0022g0008 a0001c0001t0022g0010 a0001c0002t0001g0151 a0001c0002t0005g0149 a0001c0002t0005g0153 a0001c0002t0005g0181 a0001c0002t0011g0009 a0001c0002t0020g0150 a0005c0011t0006g0203	10	352	0.0284	11	c.188 others(28): Show c.188+2400_188+2410dupAAAAAAAAAAA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	1/10			chr13	TogoVar
EPX_chr17_58187726_58210174	58203931	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0120 a0001c0002t0002g0120	1	404	0.0025	11	c.194 others(28): Show c.1947-262_1947-252dupAAAAAAAAAAA	EPX	ENSG00000121053.6	transcript	ENST00000225371.6	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERAP2_chr5_96871500_96924703	96911866	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00741.hp1 others(39): Show HG00280.hp2 HG00597.hp2 HG00741.hp1 HG01192.hp2 HG01358.hp1 HG01358.hp2 HG01981.hp2 HG01993.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02683.hp1 HG02738.hp2 HG03490.hp2 HG03492.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18612.hp2 NA18943.hp1 NA18946.hp2 NA18953.hp1 NA18964.hp1 NA18967.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18993.hp1 NA19009.hp2 NA19054.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19077.hp2 NA19081.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0027 a0001c0007t0001	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0040 others(36): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0127 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0193 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0255 a0001c0001t0001g0267 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0008g0045 a0001c0001t0027g0333 a0001c0007t0001g0258	42	398	0.1055	11	c.235 others(28): Show c.2355-766_2355-756dupAAAAAAAAAAA	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBB2_chr17_39695064_39733658	39724272	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02895.hp2 HG02896.hp2 others(2): Show HG02280.hp1 HG02895.hp2 HG02896.hp2 HG03130.hp1 HG03579.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0013 a0004c0005t0001g0083 a0004c0005t0001g0085 a0004c0005t0001g0013 a0004c0005t0001g0083 a0004c0005t0001g0085	5	318	0.0157	11	c.230 others(28): Show c.2307+268_2307+278dupTTTTTTTTTTT	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERBB4_chr2_211370717_212543802	211413309	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0023 a0001c0001t0009g0023	1	56	0.0179	11	c.313 others(30): Show c.3135+7131_3135+7132insGTGTGTGTGTG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	25/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211515913	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	56	0.0179	11	c.248 others(32): Show c.2487+45989_2487+45990insTATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211560262	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp1 HG03225.hp2 HG02717.hp1 HG02895.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019	a0001c0001t0007g0018 a0001c0001t0011g0041 a0001c0001t0019g0002 a0001c0001t0007g0018 a0001c0001t0011g0041 a0001c0001t0019g0002	3	56	0.0536	11	c.248 others(30): Show c.2487+1630_2487+1640dupAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211622990	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	56	0.0179	11	c.220 others(28): Show c.2202+931_2202+932insATATATATATT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	18/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211662038	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0053 a0001c0001t0028g0053	1	56	0.0179	11	c.187 others(30): Show c.1871+3274_1871+3284dupTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	15/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211716362	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18906.hp2 HG02895.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0028 a0001c0001t0019 a0001c0001t0028	a0001c0001t0019g0002 a0001c0001t0028g0053 a0001c0001t0019g0002 a0001c0001t0028g0053	2	56	0.0357	11	c.884 others(28): Show c.884-2725_884-2715dupTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	7/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211721443	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03239.hp2 HG03486.hp1 HG01243.hp1 HG03239.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0010 a0001c0001t0012 a0002c0003t0001 a0001c0001t0010 a0001c0001t0012 a0002c0003t0001	a0001c0001t0010g0022 a0001c0001t0012g0001 a0002c0003t0001g0014 a0001c0001t0010g0022 a0001c0001t0012g0001 a0002c0003t0001g0014	3	56	0.0536	11	c.883 others(26): Show c.883+939_883+949dupTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	7/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211745715	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	56	0.0179	11	c.622 others(28): Show c.622+4923_622+4924insTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	5/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211773612	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	56	0.0179	11	c.556 others(30): Show c.556+14402_556+14412dupATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211773633	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp2 HG02615.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0024 a0001c0001t0007g0043 a0001c0001t0002g0024 a0001c0001t0007g0043	2	56	0.0357	11	c.556 others(30): Show c.556+14381_556+14391dupTATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211875025	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0019 a0001c0002t0016g0019	1	56	0.0179	11	c.421 others(30): Show c.421+72394_421+72404dupTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211934926	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	56	0.0179	11	c.421 others(30): Show c.421+12493_421+12503dupTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211977531	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01891.hp1 HG02145.hp2 others(9): Show HG01069.hp2 HG01891.hp1 HG02145.hp2 HG02615.hp1 HG02922.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03579.hp1 NA18522.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0027 a0001c0001t0029 a0001c0002t0001 a0001c0002t0016 a0001c0002t0018	a0001c0001t0004g0003 a0001c0001t0005g0044 a0001c0001t0006g0026 others(9): Show a0001c0001t0004g0003 a0001c0001t0005g0044 a0001c0001t0006g0026 a0001c0001t0010g0005 a0001c0001t0011g0042 a0001c0001t0014g0007 a0001c0001t0017g0029 a0001c0001t0027g0055 a0001c0001t0029g0054 a0001c0002t0001g0030 a0001c0002t0016g0019 a0001c0002t0018g0010	12	56	0.2143	11	c.235 others(30): Show c.235-29926_235-29916dupTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211987341	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03834.hp2 HG01175.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0016 a0001c0001t0005g0015 a0001c0001t0002g0016 a0001c0001t0005g0015	2	56	0.0357	11	c.235 others(30): Show c.235-39726_235-39725insCTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212147157	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19030.hp1 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0011 a0001c0004t0021 a0001c0001t0011 a0001c0004t0021	a0001c0001t0011g0042 a0001c0004t0021g0009 a0001c0001t0011g0042 a0001c0004t0021g0009	2	56	0.0357	11	c.83- others(28): Show c.83-22265_83-22255dupAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212188233	T T	TCTCTCTC others(4): Show TCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	56	0.0179	11	c.83- others(28): Show c.83-63331_83-63330insGAGAGAGAGAG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212240637	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp1 NA19030.hp1 HG03453.hp1 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011	a0001c0001t0004g0003 a0001c0001t0006g0039 a0001c0001t0011g0042 a0001c0001t0004g0003 a0001c0001t0006g0039 a0001c0001t0011g0042	3	56	0.0536	11	c.83- others(30): Show c.83-115745_83-115735dupTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212267593	A A	ATTTCTTT others(4): Show ATTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp2 HG01192.hp1 others(14): Show HG01069.hp1 HG01175.hp2 HG01192.hp1 HG01891.hp1 HG01891.hp2 HG02258.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 NA18522.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030 a0001c0002t0016 a0002c0003t0001	a0001c0001t0002g0024 a0001c0001t0003g0017 a0001c0001t0003g0040 others(14): Show a0001c0001t0002g0024 a0001c0001t0003g0017 a0001c0001t0003g0040 a0001c0001t0003g0049 a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0006g0039 a0001c0001t0008g0013 a0001c0001t0009g0046 a0001c0001t0023g0012 a0001c0001t0024g0038 a0001c0001t0026g0052 a0001c0001t0030g0056 a0001c0002t0016g0019 a0002c0003t0001g0014	17	56	0.3036	11	c.83- others(30): Show c.83-142701_83-142691dupAAAAAAAGAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212286767	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp1 HG03225.hp2 others(3): Show HG01069.hp2 HG01243.hp1 HG03225.hp2 HG03486.hp1 HG03834.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0024 a0001c0002t0001	a0001c0001t0002g0016 a0001c0001t0010g0022 a0001c0001t0011g0041 others(3): Show a0001c0001t0002g0016 a0001c0001t0010g0022 a0001c0001t0011g0041 a0001c0001t0012g0001 a0001c0001t0024g0038 a0001c0002t0001g0030	6	56	0.1071	11	c.83- others(30): Show c.83-161875_83-161865dupAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212345265	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	56	0.0179	11	c.82+ others(30): Show c.82+193173_82+193183dupTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212474822	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp1 HG02965.hp2 others(5): Show HG02809.hp2 HG02922.hp1 HG02965.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0022	a0001c0001t0003g0040 a0001c0001t0004g0003 a0001c0001t0004g0011 others(5): Show a0001c0001t0003g0040 a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0006g0039 a0001c0001t0011g0041 a0001c0001t0011g0042 a0001c0001t0014g0007 a0001c0001t0022g0006	8	56	0.1429	11	c.82+ others(28): Show c.82+63616_82+63626dupAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar

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