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
ETFBKMT_chr12_31654688_31678114	31665752	G G	GAAGGGAT others(11): Show GAAGGGATGGGCTGAAATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02895.hp2 others(1): Show HG02559.hp2 HG02615.hp2 HG02895.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0023 a0003c0003t0024 a0003c0003t0023 a0003c0003t0024	a0003c0003t0023g0084 a0003c0003t0023g0096 a0003c0003t0024g0068 others(1): Show a0003c0003t0023g0084 a0003c0003t0023g0096 a0003c0003t0024g0068 a0003c0003t0024g0071	4	452	0.0089	18	c.315 others(33): Show c.315-324_315-307dupCTGAAATAAAGGGATGGG	ETFBKMT	ENSG00000139160.13	transcript	ENST00000357721.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETFDH_chr4_158667296_158714623	158670023	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0061 a0002c0002t0004g0061	1	298	0.0034	18	c.-24 others(29): Show c.-2434_-2433insTTTTTTTTTTTTTTTTTT	ETFDH	ENSG00000171503.13	transcript	ENST00000511912.6	protein_coding		2272		chr4	TogoVar
ETFDH_chr4_158667296_158714623	158689636	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03669.hp1 HG03453.hp2 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0115 a0002c0002t0005g0247 a0002c0002t0001g0115 a0002c0002t0005g0247	2	298	0.0067	18	c.607 others(33): Show c.607-711_607-710insATATATATATATATATTT	ETFDH	ENSG00000171503.13	transcript	ENST00000511912.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ETFRF1_chr12_25190237_25210143	25199619	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	390	0.0026	18	c.-37 others(35): Show c.-37-4289_-37-4272dupCACACACACACACACACA	ETFRF1	ENSG00000205707.11	transcript	ENST00000381356.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETFRF1_chr12_25190237_25210143	25202063	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	390	0.0026	18	c.-37 others(35): Show c.-37-1854_-37-1837dupAAAAAAAAAAAAAAAAAA	ETFRF1	ENSG00000205707.11	transcript	ENST00000381356.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETHE1_chr19_43501719_43532201	43501753	C C	CCGCGCTG others(11): Show CCGCGCTGCTCCGAGGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	408	0.0025	18	c.50 others(29): Show c.5079_*5096dupCGGCCTCGGAGCAGCGCG	ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding		4965		chr19	TogoVar
ETNK2_chr1_204126062_204157044	204129987	C C	CGGGGGGG others(11): Show CGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	422	0.0024	18	c.21 others(29): Show c.2196_*2197insCCCCCCCCCCCCCCCCCC	ETNK2	ENSG00000143845.15	transcript	ENST00000367202.9	protein_coding		1074		chr1	TogoVar
ETNK2_chr1_204126062_204157044	204144345	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp1 HG02886.hp1 others(5): Show HG01109.hp2 HG02280.hp1 HG02886.hp1 HG03516.hp1 NA18963.hp1 NA19000.hp1 NA19004.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0036 a0001c0001t0001g0082 a0001c0001t0001g0168 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0082 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0005g0171 a0001c0001t0005g0278	8	422	0.0190	18	c.641 others(35): Show c.641+2279_641+2296dupTTTTTTTTTTTTTTTTTT	ETNK2	ENSG00000143845.15	transcript	ENST00000367202.9	protein_coding	3/7			chr1	TogoVar
ETNPPL_chr4_108737053_108768053	108741276	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02145.hp1 HG02145.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0043 a0002c0002t0001g0302 a0001c0001t0001g0043 a0002c0002t0001g0302	2	378	0.0053	18	c.12 others(29): Show c.1207_*1208insCACACACACACACACACA	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding		776		chr4	TogoVar
ETS1_chr11_128453765_128592558	128544340	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01433.hp2 others(8): Show HG00140.hp2 HG00642.hp1 HG01433.hp2 HG01515.hp2 HG03225.hp2 NA18944.hp2 NA18947.hp1 NA18972.hp2 NA18984.hp1 NA19002.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0012	a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0003g0101 others(8): Show a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0003g0101 a0001c0001t0003g0106 a0001c0001t0005g0050 a0001c0002t0002g0039 a0001c0002t0002g0087 a0001c0002t0002g0142 a0001c0002t0003g0254 a0001c0002t0009g0038 a0001c0002t0012g0060	11	286	0.0385	18	c.214 others(37): Show c.214+11933_214+11950dupATATATATATATATATAT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128569318	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18950.hp1 HG02559.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0100 a0001c0001t0004g0224 a0001c0001t0001g0100 a0001c0001t0004g0224	2	286	0.0070	18	c.69+ others(33): Show c.69+3726_69+3743dupAAAAAAAAAAAAAAAAAA	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	2/9			chr11	TogoVar
ETV1_chr7_13886229_13994666	13896790	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0033 a0002c0002t0012g0033	1	320	0.0031	18	c.121 others(35): Show c.1213-704_1213-703insCTTTCTTTCTTTCTTTCT	ETV1	ENSG00000006468.15	transcript	ENST00000430479.6	protein_coding	13/13			chr7	TogoVar
ETV1_chr7_13886229_13994666	13950899	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0116 a0002c0002t0010g0116	1	320	0.0031	18	c.236 others(37): Show c.236-11671_236-11654dupGTGTGTGTGTGTGTGTGT	ETV1	ENSG00000006468.15	transcript	ENST00000430479.6	protein_coding	6/13			chr7	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01891.hp2 HG02735.hp1 others(7): Show HG00438.hp2 HG01891.hp2 HG02735.hp1 HG02922.hp2 HG03225.hp1 HG03490.hp1 HG04115.hp1 NA18967.hp2 NA19043.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0002 a0001c0001t0001g0004 a0001c0001t0002g0002	10	438	0.0228	18	c.-32 others(29): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAA	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2836		chr19	TogoVar
ETV4_chr17_43522846_43551340	43543276	A A	ACTCTCCC others(11): Show ACTCTCCCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(43): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01192.hp1 HG01346.hp1 HG01928.hp1 HG01981.hp2 HG02004.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02293.hp2 HG02486.hp1 HG02647.hp2 HG02886.hp1 HG02896.hp1 HG03130.hp1 HG03209.hp1 HG03490.hp2 HG03516.hp1 HG03927.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18951.hp1 NA18965.hp1 NA18973.hp2 NA18985.hp2 NA18987.hp2 NA18990.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19055.hp1 NA19062.hp2 NA19074.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0016 others(27): Show a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103	46	398	0.1156	18	c.202 others(35): Show c.202+1698_202+1699insAGAGAGAGAGAGGGAGAG	ETV4	ENSG00000175832.13	transcript	ENST00000319349.10	protein_coding	4/12			chr17	TogoVar
ETV4_chr17_43522846_43551340	43545194	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	398	0.0025	18	c.154 others(31): Show c.154+62_154+79dupACACACACACACACACAC	ETV4	ENSG00000175832.13	transcript	ENST00000319349.10	protein_coding	3/12			chr17	TogoVar
ETV6_chr12_11644674_11900377	11760878	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0150 a0001c0001t0012g0150	1	262	0.0038	18	c.163 others(35): Show c.163+8313_163+8330dupGTGTGTGTGTGTGTGTGT	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
EVA1A_chr2_75487318_75565939	75555301	A A	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02895.hp2 HG02897.hp1 others(8): Show HG00099.hp1 HG02895.hp2 HG02897.hp1 HG04204.hp2 NA18948.hp1 NA18952.hp1 NA18977.hp1 NA19063.hp1 NA19085.hp2 NA19240.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0002t0005 a0001c0002t0007	a0001c0001t0001g0110 a0001c0001t0001g0132 a0001c0001t0005g0052 others(8): Show a0001c0001t0001g0110 a0001c0001t0001g0132 a0001c0001t0005g0052 a0001c0001t0005g0152 a0001c0001t0015g0042 a0001c0002t0005g0111 a0001c0002t0005g0112 a0001c0002t0005g0131 a0001c0002t0005g0151 a0001c0002t0007g0159 a0001c0002t0007g0160	11	384	0.0287	18	c.-19 others(37): Show c.-192+5361_-192+5378dupGAGAGAGAGAGAGAGAGA	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01358.hp2 HG02300.hp2 others(2): Show HG01081.hp1 HG01358.hp2 HG02300.hp2 HG02698.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0009 a0001c0001t0004 a0002c0003t0009	a0001c0001t0004g0242 a0001c0001t0004g0281 a0001c0001t0004g0332 others(2): Show a0001c0001t0004g0242 a0001c0001t0004g0281 a0001c0001t0004g0332 a0001c0001t0004g0333 a0002c0003t0009g0367	5	384	0.0130	18	c.-19 others(37): Show c.-192+5343_-192+5344insGGAGAGAGAGAGAGAGAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1B_chr1_36317030_36328645	36318898	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	406	0.0025	18	c.33 others(29): Show c.3379_*3396dupATTATTATTATTATTATT	EVA1B	ENSG00000142694.7	transcript	ENST00000490466.2	protein_coding		3131		chr1	TogoVar
EVA1C_chr21_32407706_32520387	32430972	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02486.hp1 HG02818.hp2 others(5): Show HG02293.hp2 HG02486.hp1 HG02818.hp2 HG03139.hp2 HG03486.hp1 HG03579.hp2 NA18522.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0021	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0021t0001	a0001c0001t0001g0059 a0001c0001t0001g0256 a0001c0002t0001g0080 others(5): Show a0001c0001t0001g0059 a0001c0001t0001g0256 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0255 a0001c0004t0001g0141 a0001c0005t0001g0067 a0001c0021t0001g0342	8	346	0.0231	18	c.160 others(37): Show c.160+17970_160+17971insAAAAAAAAAAAAAAAAAA	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVC2_chr4_5557439_5713559	5650638	T T	TATAGAGA others(11): Show TATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03130.hp2 HG02004.hp2 HG03130.hp2	a0002 a0005 a0002 a0005	a0002c0017 a0005c0004 a0002c0017 a0005c0004	a0002c0017t0002 a0005c0004t0002 a0002c0017t0002 a0005c0004t0002	a0002c0017t0002g0161 a0005c0004t0002g0122 a0002c0017t0002g0161 a0005c0004t0002g0122	2	292	0.0069	18	c.114 others(37): Show c.1146-9801_1146-9800insCTCTCTCTCTCTCTCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5650638	T T	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04199.hp2 HG03239.hp2 HG04199.hp2	a0001 a0004 a0001 a0004	a0001c0011 a0004c0010 a0001c0011 a0004c0010	a0001c0011t0001 a0004c0010t0002 a0001c0011t0001 a0004c0010t0002	a0001c0011t0001g0109 a0004c0010t0002g0139 a0001c0011t0001g0109 a0004c0010t0002g0139	2	292	0.0069	18	c.114 others(37): Show c.1146-9801_1146-9800insCTCTCTCTCTCTCTATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5650638	T T	TATATATA others(11): Show TATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0002 a0005c0025t0002	a0005c0025t0002g0104 a0005c0025t0002g0104	1	292	0.0034	18	c.114 others(37): Show c.1146-9801_1146-9800insCTCTCTCTCTCTATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5650638	T T	TATATATA others(11): Show TATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03239.hp1 HG03927.hp1 HG02165.hp2 HG03239.hp1 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0004 a0001c0001t0001 a0001c0001t0003 a0002c0002t0004	a0001c0001t0001g0053 a0001c0001t0003g0022 a0002c0002t0004g0008 a0001c0001t0001g0053 a0001c0001t0003g0022 a0002c0002t0004g0008	3	292	0.0103	18	c.114 others(37): Show c.1146-9801_1146-9800insCTCTCTCTCTATATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5650671	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGAGC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02280.hp1 NA18995.hp2 HG02083.hp2 HG02280.hp1 NA18995.hp2	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0013 a0004c0010 a0005c0004 a0003c0013 a0004c0010 a0005c0004	a0003c0013t0002 a0004c0010t0001 a0005c0004t0001 a0003c0013t0002 a0004c0010t0001 a0005c0004t0001	a0003c0013t0002g0230 a0004c0010t0001g0115 a0005c0004t0001g0097 a0003c0013t0002g0230 a0004c0010t0001g0115 a0005c0004t0001g0097	3	292	0.0103	18	c.114 others(37): Show c.1146-9834_1146-9833insGCTCTCTCTCTCTCTCTC	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5664952	T T	TGTGTGGG others(11): Show TGTGTGGGTGATGGGGTGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0079 a0002c0012t0002g0079	1	292	0.0034	18	c.100 others(35): Show c.1005+545_1005+562dupGCACCCCATCACCCACAC	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	8/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5664993	G G	GGGGTGAC others(11): Show GGGGTGACGGGATGCGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18942.hp2 NA19012.hp1 others(2): Show HG00558.hp1 NA18942.hp2 NA19012.hp1 NA19055.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0002 a0001c0003t0001 a0002c0002t0002	a0001c0003t0001g0065 a0001c0003t0001g0213 a0002c0002t0002g0182 others(2): Show a0001c0003t0001g0065 a0001c0003t0001g0213 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0208	5	292	0.0171	18	c.100 others(35): Show c.1005+504_1005+521dupACACGCATCCCGTCACCC	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	8/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5794259	A A	ATTTTTAT others(11): Show ATTTTTATATATTTATATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0021 a0021	a0021c0061 a0021c0061	a0021c0061t0004 a0021c0061t0004	a0021c0061t0004g0197 a0021c0061t0004g0197	1	369	0.0027	18	c.188 others(35): Show c.1886+545_1886+546insTTATATATTTATATTTTT	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
EVI2A_chr17_31311410_31326622	31322094	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG02886.hp1 others(3): Show HG00735.hp1 HG01081.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016	a0001c0001t0004g0009 a0001c0001t0006g0007 a0001c0001t0008g0005 others(1): Show a0001c0001t0004g0009 a0001c0001t0006g0007 a0001c0001t0008g0005 a0001c0001t0016g0040	6	378	0.0159	18	c.-62 others(27): Show c.-628_-611dupGTGTGTGTGTGTGTGTGT	EVI2A	ENSG00000126860.12	transcript	ENST00000462804.3	protein_coding		473		chr17	TogoVar
EVI5_chr1_92503696_92790108	92550781	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	168	0.0060	18	c.216 others(39): Show c.2166+12860_2166+12861insATATATATATATATTTTT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	19/19			chr1	TogoVar
EVI5_chr1_92503696_92790108	92550781	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0112 a0001c0001t0052g0112	1	168	0.0060	18	c.216 others(39): Show c.2166+12843_2166+12860dupATATATATATATATATAT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	19/19			chr1	TogoVar
EVI5_chr1_92503696_92790108	92565948	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03516.hp2 HG02895.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0119 a0001c0001t0024g0120 a0001c0001t0024g0119 a0001c0001t0024g0120	2	168	0.0119	18	c.207 others(37): Show c.2071-2229_2071-2212dupTTTTTTTTTTTTTTTTTT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	18/19			chr1	TogoVar
EVI5_chr1_92503696_92790108	92669547	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03516.hp2 NA19043.hp1 HG01109.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0024 a0001c0001t0043 a0001c0001t0005 a0001c0001t0024 a0001c0001t0043	a0001c0001t0005g0050 a0001c0001t0024g0120 a0001c0001t0043g0042 a0001c0001t0005g0050 a0001c0001t0024g0120 a0001c0001t0043g0042	3	168	0.0179	18	c.115 others(37): Show c.1159-3556_1159-3555insTTTTTTTTTTTTTTTTTT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	10/19			chr1	TogoVar
EVPLL_chr17_18372778_18394647	18373800	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01071.hp1 HG01346.hp1 others(11): Show HG00408.hp1 HG01071.hp1 HG01346.hp1 HG01496.hp2 HG01975.hp1 HG01981.hp1 HG02293.hp1 HG03669.hp1 HG03834.hp1 NA18939.hp1 NA18964.hp1 NA19063.hp1 NA19085.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0002 a0002c0001t0001 a0001c0003t0002 a0002c0001t0001	a0001c0003t0002g0039 a0002c0001t0001g0001 a0002c0001t0001g0008 others(2): Show a0001c0003t0002g0039 a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0023 a0002c0001t0001g0079	14	408	0.0343	18	c.-42 others(29): Show c.-4220_-4219insAAAAAAAAAAAAAAAAAA	EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding		3977		chr17	TogoVar
EVPLL_chr17_18372778_18394647	18388043	C C	CATATATA others(11): Show CATATATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00733.hp1 others(77): Show HG00099.hp2 HG00280.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp2 HG02055.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03831.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18943.hp2 NA18979.hp1 NA18987.hp1 NA18989.hp1 NA19009.hp2 NA19030.hp2 NA19062.hp2 NA19080.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0002c0009 others(1): Show a0001c0003 a0001c0004 a0002c0009 a0003c0005	a0001c0003t0002 a0001c0003t0005 a0001c0003t0013 others(3): Show a0001c0003t0002 a0001c0003t0005 a0001c0003t0013 a0001c0004t0002 a0002c0009t0011 a0003c0005t0005	a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0035 others(20): Show a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0038 a0001c0003t0002g0039 a0001c0003t0002g0056 a0001c0003t0002g0096 a0001c0003t0002g0098 a0001c0003t0005g0014 a0001c0003t0005g0029 a0001c0003t0005g0042 a0001c0003t0005g0109 a0001c0003t0013g0003 a0001c0004t0002g0027 a0001c0004t0002g0097 a0001c0004t0002g0100 a0001c0004t0002g0101 a0001c0004t0002g0103 a0002c0009t0011g0035 a0003c0005t0005g0014 a0003c0005t0005g0028	80	408	0.1961	18	c.877 others(33): Show c.877-168_877-167insATATGTATATATATATAT	EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EVX1_chr7_27237802_27252830	27252583	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01099.hp1 others(10): Show HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01934.hp2 HG02071.hp2 HG02129.hp1 HG02970.hp2 HG03704.hp1 NA18950.hp1 NA18955.hp2 NA18969.hp2 NA19087.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0005g0002 a0001c0005t0001g0005 others(1): Show a0001c0001t0001g0001 a0001c0001t0005g0002 a0001c0005t0001g0005 a0003c0004t0001g0001	13	398	0.0327	18	c.61 others(29): Show c.6158_*6159insGTGTGTGTGTGTGTGTGT	EVX1	ENSG00000106038.13	transcript	ENST00000496902.7	protein_coding		4754		chr7	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG04228.hp1 NA19240.hp2 HG02258.hp1 HG04228.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0007 a0001c0001t0004 a0001c0002t0007	a0001c0001t0004g0010 a0001c0002t0007g0013 a0001c0001t0004g0010 a0001c0002t0007g0013	3	430	0.0070	18	c.-64 others(27): Show c.-646_-645insAAAAAAAAAAAAAAAAAA	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		460		chr2	TogoVar
EVX2_chr2_176072472_176088962	176084733	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01168.hp1 others(19): Show HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01891.hp1 HG02109.hp1 HG02451.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG03209.hp1 HG03239.hp1 HG03579.hp2 HG03688.hp1 HG06807.hp1 NA19030.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0008 a0001c0002t0014 others(2): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0014 a0001c0004t0006 a0001c0004t0024	a0001c0002t0001g0003 a0001c0002t0008g0014 a0001c0002t0014g0037 others(2): Show a0001c0002t0001g0003 a0001c0002t0008g0014 a0001c0002t0014g0037 a0001c0004t0006g0012 a0001c0004t0024g0065	22	430	0.0512	18	c.-95 others(27): Show c.-958_-957insCTCTCTCTCTCTCTCTCT	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		772		chr2	TogoVar
EWSR1_chr22_29263268_29305521	29303764	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	390	0.0026	18	c.36 others(29): Show c.3603_*3604insGTGTGTGTGTGTGTGTGT	EWSR1	ENSG00000182944.18	transcript	ENST00000397938.7	protein_coding		3244		chr22	TogoVar
EXD2_chr14_69186498_69249018	69201672	G G	GTTTTTTG others(11): Show GTTTTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03225.hp1 HG02622.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0171 a0001c0004t0007g0172 a0001c0004t0007g0171 a0001c0004t0007g0172	2	234	0.0086	18	c.-13 others(37): Show c.-131-2239_-131-2238insGTTTTTTTTTTTTTTTTT	EXD2	ENSG00000081177.19	transcript	ENST00000685843.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXD2_chr14_69186498_69249018	69206455	C C	CCTTTTTT others(11): Show CCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02572.hp1 HG01074.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0005 a0001c0001t0016	a0001c0001t0005g0164 a0001c0001t0016g0102 a0001c0001t0005g0164 a0001c0001t0016g0102	2	234	0.0086	18	c.-48 others(35): Show c.-48+2455_-48+2456insCTTTTTTTTTTTTTTTTT	EXD2	ENSG00000081177.19	transcript	ENST00000685843.1	protein_coding	2/9			chr14	TogoVar
EXD2_chr14_69186498_69249018	69220253	G G	GTTTTTTG others(11): Show GTTTTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18983.hp1 NA18967.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0152 a0001c0001t0005g0153	2	234	0.0086	18	c.334 others(35): Show c.334-8557_334-8556insGTTTTTTTTTTTTTTTTT	EXD2	ENSG00000081177.19	transcript	ENST00000685843.1	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXD3_chr9_137301896_137428162	137355564	G G	GAGGAAGG others(11): Show GAGGAAGGAGGAAGGAGAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	82	0.0122	18	c.757 others(33): Show c.757+703_757+704insTTCTCCTTCCTCCTTCCT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137381098	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03688.hp1 HG02165.hp2 HG03688.hp1	a0005 a0021 a0005 a0021	a0005c0021 a0021c0027 a0005c0021 a0021c0027	a0005c0021t0001 a0021c0027t0001 a0005c0021t0001 a0021c0027t0001	a0005c0021t0001g0069 a0021c0027t0001g0064 a0005c0021t0001g0069 a0021c0027t0001g0064	2	82	0.0244	18	c.120 others(35): Show c.120+2214_120+2215insTGTGTGTGTGTGTGTGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137381098	T T	TCTCACAC others(11): Show TCTCACACACACATACACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0018 a0006c0005t0001g0018	1	82	0.0122	18	c.120 others(35): Show c.120+2214_120+2215insTGTGTATGTGTGTGTGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137381098	T T	TCTCTCAC others(11): Show TCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00280.hp1 HG00323.hp2	a0007 a0013 a0007 a0013	a0007c0010 a0013c0028 a0007c0010 a0013c0028	a0007c0010t0001 a0013c0028t0001 a0007c0010t0001 a0013c0028t0001	a0007c0010t0001g0079 a0013c0028t0001g0080 a0007c0010t0001g0079 a0013c0028t0001g0080	2	82	0.0244	18	c.120 others(35): Show c.120+2214_120+2215insTGTGTGTGTGTGTGAGAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21			chr9	TogoVar
EXO1_chr1_241843204_241894939	241847639	T T	TAAGTCGT others(11): Show TAAGTCGTTTTTATGTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0203 a0012c0012t0001g0203	1	416	0.0024	18	c.-11 others(29): Show c.-1134_-1133insAAGTCGTTTTTATGTCAA	EXO1	ENSG00000174371.17	transcript	ENST00000366548.8	protein_coding		564		chr1	TogoVar
EXO1_chr1_241843204_241894939	241892945	A A	ACACATTC others(11): Show ACACATTCATGAGTTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0003 a0009c0010t0003	a0009c0010t0003g0111 a0009c0010t0003g0111	1	416	0.0024	18	c.33 others(29): Show c.3345_*3346insCACATTCATGAGTTATAT	EXO1	ENSG00000174371.17	transcript	ENST00000366548.8	protein_coding		3007		chr1	TogoVar
EXOC2_chr6_480154_698139	501202	T T	TATCTATA others(11): Show TATCTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01975.hp2 NA18979.hp1 others(2): Show HG01952.hp1 HG01975.hp2 NA18979.hp1 NA18983.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0004t0005	a0001c0001t0004g0087 a0001c0001t0005g0075 a0001c0001t0005g0088 others(2): Show a0001c0001t0004g0087 a0001c0001t0005g0075 a0001c0001t0005g0088 a0001c0004t0001g0220 a0001c0004t0005g0221	5	272	0.0184	18	c.238 others(37): Show c.2381-1503_2381-1502insTATATATAATATATAGAT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar

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