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
EPAS1_chr2_46292407_46391697	46310214	A A	ACTTTGTC others(41): Show ACTTTGTCCCCCTCATTATTTGATAAGGTTCTCTTTCTGATGGTAAAGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0039 a0002c0002t0043g0039	1	324	0.0031	48	c.26+ others(65): Show c.26+12305_26+12352dupTTCTCTTTCTGATGGTAAAGCCTTTGTC CCCCTCATTATTTGATAAGG	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	28935438	A A	AACACACA others(41): Show AACACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	210	0.0048	48	c.-8+ others(65): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACACACACAC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28990296	T T	TTTCCTTC others(41): Show TTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0223 a0001c0002t0003g0224	2	23	0.0870	48	c.468 others(65): Show c.468+2410_468+2411insTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03540.hp1 HG00642.hp1 HG03540.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0063 a0002c0006t0002g0199 a0002c0006t0002g0063 a0002c0006t0002g0199	2	60	0.0333	48	c.154 others(65): Show c.154-1434_154-1433insGAAGGAAGGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03540.hp2 HG02572.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0012 a0002c0002t0004g0154 a0001c0001t0001g0012 a0002c0002t0004g0154	2	60	0.0333	48	c.154 others(65): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01071.hp1 others(1): Show HG00323.hp2 HG01070.hp1 HG01071.hp1 HG02735.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0192 a0002c0002t0004g0177 a0002c0002t0004g0178 others(1): Show a0001c0001t0001g0192 a0002c0002t0004g0177 a0002c0002t0004g0178 a0002c0002t0004g0195	4	62	0.0645	48	c.154 others(65): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGAAAG AAAGAAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221566956	G G	GAGAAGGA others(41): Show GAGAAGGAGAAGGAGAAGGGGAAGAGGAAGAGGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG04184.hp1 HG01243.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0188 a0001c0001t0014g0187 a0001c0001t0001g0188 a0001c0001t0014g0187	2	105	0.0190	48	c.159 others(65): Show c.159+1761_159+1762insTCTTCTTCTTCTTCTTCCTCTTCCTCTT CCCCTTCTCCTTCTCCTTCT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHB3_chr3_184556785_184587408	184586192	C C	CCCCGCCC others(41): Show CCCCGCCCATCTTCGAGTGCCTCAGGCCCAGGACCCTCACCAGGTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	48	c.45 others(59): Show c.4570_*4571insCCCGCCCATCTTCGAGTGCCTCAGGCCCAGGACC CTCACCAGGTCCCT	EPHB3	ENSG00000182580.3	transcript	ENST00000330394.3	protein_coding		3785		chr3	TogoVar
EPPK1_chr8_143852324_143883467	143878404	G G	GCCGCACC others(41): Show GCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0126 a0126	a0126c0116 a0126c0116	a0126c0116t0002 a0126c0116t0002	a0126c0116t0002g0046 a0126c0116t0002g0046	1	343	0.0029	48	c.-46 others(61): Show c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGG GTGCGGGCAGGTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	197	0.0051	48	c.432 others(65): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATATATATATATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPS15_chr1_51349263_51524266	51508234	A A	AAAAGAAA others(41): Show AAAAGAAAAGAAAAGAAAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0033 a0001c0002t0017g0033	1	134	0.0075	48	c.33+ others(65): Show c.33+10964_33+10965insCTCTCTCTCTCTCTCTCTCTCTCTTTCT CTCTTTCTTTTCTTTTCTTT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42926041	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0248 a0001c0002t0003g0248	1	120	0.0083	48	c.657 others(63): Show c.657+294_657+295insACCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10			chr13	TogoVar
ERBB3_chr12_56075165_56108505	56075830	A A	AGGGGCTG others(41): Show AGGGGCTGAACCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA18946.hp2 HG00423.hp2 NA18946.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0230 a0003c0004t0008g0231 a0003c0004t0008g0230 a0003c0004t0008g0231	2	111	0.0180	48	c.-44 others(59): Show c.-4471_-4470insGGGGCTGAACCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGG	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding		4334		chr12	TogoVar
ERBB4_chr2_211370717_212543802	211538127	T T	TCTTTGAA others(41): Show TCTTTGAAACATAATCAGATCATAGAATCTTAAATTTAAAATGTACTTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02615.hp2 others(5): Show HG02145.hp1 HG02258.hp1 HG02615.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0002t0001	a0001c0001t0002g0024 a0001c0001t0007g0043 a0001c0001t0014g0007 others(5): Show a0001c0001t0002g0024 a0001c0001t0007g0043 a0001c0001t0014g0007 a0001c0001t0020g0028 a0001c0001t0023g0012 a0001c0001t0028g0053 a0001c0002t0001g0020 a0001c0002t0001g0048	8	56	0.1429	48	c.248 others(69): Show c.2487+23775_2487+23776insTAAGTACATTTTAAATTTAAGATT CTATGATCTGATTATGTTTCAAAG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003112	A A	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0002 a0001c0001t0019g0002	1	46	0.0217	48	c.235 others(67): Show c.235-55497_235-55496insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003112	A A	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp2 HG01069.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0030 a0001c0002t0001 a0001c0001t0030 a0001c0002t0001	a0001c0001t0030g0056 a0001c0002t0001g0037 a0001c0001t0030g0056 a0001c0002t0001g0037	2	47	0.0426	48	c.235 others(67): Show c.235-55497_235-55496insCTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018487	T T	TATAATAT others(41): Show TATAATATATATTATATAATATATATTATATAATATATATTATATAATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	226	0.0044	48	c.534 others(65): Show c.534-2835_534-2834insATAATATATATTATATAATATATATTAT ATAATATATATTATATAATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25			chr5	TogoVar
ERC1_chr12_986223_1500931	1121779	A A	ATCTCTAT others(41): Show ATCTCTATCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0128 a0002c0002t0011g0128	1	84	0.0119	48	c.156 others(67): Show c.1569+5749_1569+5750insCTATCTCTATCTCTATCTATCTCTAT CTCTATCTCTATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121947	A A	ATCTCTAT others(41): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG01891.hp2 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0040 a0002c0002t0036 a0002c0002t0040	a0002c0002t0036g0082 a0002c0002t0040g0070 a0002c0002t0036g0082 a0002c0002t0040g0070	2	153	0.0131	48	c.156 others(67): Show c.1569+5923_1569+5924insGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTGTGTCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122017	A A	ATCTCTAT others(41): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA20129.hp2 HG02257.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0007 a0001c0003t0006 a0001c0003t0007	a0001c0003t0006g0114 a0001c0003t0007g0088 a0001c0003t0006g0114 a0001c0003t0007g0088	2	141	0.0142	48	c.156 others(67): Show c.1569+5993_1569+5994insGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTGTGTCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122071	A A	ATCTGTGC others(41): Show ATCTGTGCCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG00738.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0042 a0001c0001t0003 a0001c0001t0042	a0001c0001t0003g0029 a0001c0001t0042g0085 a0001c0001t0003g0029 a0001c0001t0042g0085	2	81	0.0247	48	c.156 others(67): Show c.1569+6039_1569+6040insCTGTGCCTATTGATATATCTGTATAT ATCTATCTAAATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122313	A A	ATCTCTAT others(41): Show ATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0058 a0002c0002t0058	a0002c0002t0058g0123 a0002c0002t0058g0123	1	155	0.0065	48	c.156 others(67): Show c.1569+6307_1569+6308insCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55799450	C C	CATATATA others(41): Show CATATATATATATATATATATGCCTTATATATATAAGGCATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	38	0.0263	48	c.256 others(69): Show c.2565-64533_2565-64532insATATATATATGCCTTATATATATA AGGCATATATATATATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERFL_chr19_41902704_41933449	41914569	G G	GTCTCTCC others(41): Show GTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp2 HG02135.hp1 HG01070.hp1 HG01243.hp2 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0083	3	311	0.0096	48	c.-13 others(65): Show c.-13-1638_-13-1637insTGGTGGAAGGGGAGGGAGAGACAGAGAT GGTGGAAGGGGAGGGAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914628	T T	TGTCTCTC others(41): Show TGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	319	0.0031	48	c.-13 others(65): Show c.-13-1697_-13-1696insGGTGGAAGGGGAGGGAGAGACAGAGATG GTGGAAAGGGAGGGAGAGAC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914629	G G	GTCTCTCC others(41): Show GTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	314	0.0032	48	c.-13 others(65): Show c.-13-1698_-13-1697insTGGTGGAAGGGGAGGGAGAGACAGAGAT GGTGGAAGGGGAGGGAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914649	T T	TTCCACCA others(41): Show TTCCACCATCTCTGTCTCTCCCTCCCCCTCCACCGTGTCTCCCTCCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	315	0.0032	48	c.-13 others(65): Show c.-13-1718_-13-1717insGGGGGAGGGAGACACGGTGGAGGGGGAG GGAGAGACAGAGATGGTGGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172908323	A A	AGAGGGGA others(41): Show AGAGGGGAGGGGGGGGAGGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	309	0.0032	48	c.156 others(65): Show c.156-1343_156-1342insAGGGGAGGGGGGGGAGGGGGGGGAGGGG GGGGGGAGAGAGGGGAGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(41): Show AGGGGGGGGAGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01261.hp1 HG01192.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0112 a0001c0001t0001g0090 a0001c0001t0001g0112	2	255	0.0078	48	c.156 others(65): Show c.156-1332_156-1331insGAGGGGGGGGAGGGGGGGGGAGAGAGGG GAGGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(41): Show AGGGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	254	0.0039	48	c.156 others(65): Show c.156-1332_156-1331insGAGGGGGGGGGAGGGGGGGGAGAGAGGG GAGGGGGGGAGGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(41): Show AGGGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	254	0.0039	48	c.156 others(65): Show c.156-1332_156-1331insGAGGGGGGGGGAGGGGGGGGAGAGAGGG GAGGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(41): Show AGGGGGGGGAGGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	254	0.0039	48	c.156 others(65): Show c.156-1332_156-1331insGAGGGGGGGGGAGGGGGGGGGAGAGAGG GGAGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(41): Show AGGGGGGGGGAGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	254	0.0039	48	c.156 others(65): Show c.156-1332_156-1331insGGAGGGGGGGGAGGGGGGGGGAGAGAGG GGAGGGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908336	A A	AGGGGGGG others(41): Show AGGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	300	0.0033	48	c.156 others(65): Show c.156-1325_156-1324insGGAGGGGGGGGGGAGAGAGGGGAGGGGG GGAGGGGGGGGGAGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908336	A A	AGGGGGGG others(41): Show AGGGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0197 a0001c0001t0016g0197	1	300	0.0033	48	c.156 others(65): Show c.156-1325_156-1324insGGGAGGGGGGGGGGAGAGAGGGGAGGGG GGGAGGGGGGGGAGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908341	G G	GGGGAGGG others(41): Show GGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGGAGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	330	0.0030	48	c.156 others(65): Show c.156-1325_156-1324insGGAGGGGGGGGGAGAGAGGGGAGGGGGG GGAGGGGGGGGAGGGGGGAG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH1_chr8_659200_736224	659292	A A	AGGGGGGT others(41): Show AGGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	363	0.0028	48	c.53 others(59): Show c.5310_*5311insCTCCCCAGGATGGTCAGTGCACACCGGAGATCTC GATGGTCACCCCCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4907		chr8	TogoVar
ERICH1_chr8_659200_736224	659436	T T	TGACCATC others(41): Show TGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	376	0.0027	48	c.51 others(59): Show c.5166_*5167insCACCCCCCTCCCCAGGATGCTCAGTGCACACCGG AGATCTCGATGGTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4763		chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073436	A A	ATATATAT others(41): Show ATATATATATATATATATATGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	160	0.0063	48	c.58+ others(63): Show c.58+8728_58+8729insGTATATATATATATATATATATATATATGT ATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091993	C C	CCCTTCCT others(41): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00558.hp1 others(17): Show HG00140.hp2 HG00408.hp1 HG00558.hp1 HG01106.hp2 HG01167.hp2 HG01192.hp1 HG02698.hp1 HG02735.hp1 HG03669.hp2 HG03704.hp1 NA18747.hp2 NA18948.hp2 NA18952.hp1 NA18959.hp2 NA18962.hp2 NA18982.hp1 NA19000.hp2 NA19066.hp1 NA19066.hp2 NA19082.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0009c0010t0002	a0001c0001t0001g0091 a0001c0001t0002g0077 a0001c0001t0002g0090 others(17): Show a0001c0001t0001g0091 a0001c0001t0002g0077 a0001c0001t0002g0090 a0001c0001t0002g0117 a0001c0001t0002g0163 a0001c0001t0002g0169 a0001c0001t0002g0178 a0001c0001t0002g0198 a0001c0001t0002g0202 a0001c0001t0002g0240 a0001c0001t0002g0259 a0001c0001t0002g0297 a0001c0001t0002g0306 a0001c0001t0002g0323 a0001c0001t0002g0375 a0001c0001t0002g0389 a0001c0001t0002g0391 a0001c0001t0002g0409 a0001c0001t0003g0034 a0009c0010t0002g0274	20	81	0.2469	48	c.101 others(67): Show c.1013-1196_1013-1195insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERLIN2_chr8_37731634_37763422	37731817	G G	GCAAAAAA others(41): Show GCAAAAAAAACCTAACAAAAAAAACCACCTAAAAACTATAAAAAAGATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	48	c.-48 others(59): Show c.-4877_-4876insCAAAAAAAACCTAACAAAAAAAACCACCTAAAAA CTATAAAAAAGATC	ERLIN2	ENSG00000147475.17	transcript	ENST00000519638.3	protein_coding		4816		chr8	TogoVar
ERO1B_chr1_236210101_236286958	236239877	A A	ATATATGT others(41): Show ATATATGTGTATATATATATGTGTATATATGTATATATATGTGTATATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01496.hp1 HG02615.hp2 HG00642.hp2 HG01496.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0048 a0001c0001t0001 a0001c0001t0009 a0001c0001t0048	a0001c0001t0001g0020 a0001c0001t0009g0019 a0001c0001t0048g0118 a0001c0001t0001g0020 a0001c0001t0009g0019 a0001c0001t0048g0118	3	204	0.0147	48	c.506 others(65): Show c.506-3480_506-3479insCATATACACATATATATACATATATACA CATATATATATACACATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236239877	A A	ATATATGT others(41): Show ATATATGTGTATATATATATGTGTATATATGTGTATATATGTGTATATG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0220 a0009c0010t0001g0220	1	202	0.0050	48	c.506 others(65): Show c.506-3480_506-3479insCATATACACATATATACACATATATACA CATATATATATACACATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245498	A A	ATATATAT others(41): Show ATATATATGTATATATATACACGTATATATATATGTATATATATACACG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0331 a0001c0001t0003g0331	1	321	0.0031	48	c.432 others(65): Show c.432-2004_432-2003insCGTGTATATATATACATATATATATACG TGTATATATATACATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245508	G G	GTATATAT others(41): Show GTATATATATATACACGTATATATATATGTATATATATACACGTATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02074.hp2 HG02132.hp1 others(2): Show HG02040.hp1 HG02074.hp2 HG02132.hp1 NA18947.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0034 a0001c0001t0003 a0001c0001t0005 a0001c0001t0034	a0001c0001t0003g0327 a0001c0001t0005g0316 a0001c0001t0005g0317 others(2): Show a0001c0001t0003g0327 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0326 a0001c0001t0034g0086	5	371	0.0135	48	c.432 others(65): Show c.432-2014_432-2013insTATATACGTGTATATATATACATATATA TATACGTGTATATATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245510	G G	GTATATAT others(41): Show GTATATATATACACGTATATATATATGTATATATATACACGTATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18986.hp1 NA18969.hp1 NA18986.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0019 a0004c0006t0001 a0004c0006t0019	a0004c0006t0001g0188 a0004c0006t0019g0105 a0004c0006t0001g0188 a0004c0006t0019g0105	2	304	0.0066	48	c.432 others(65): Show c.432-2016_432-2015insTATATATACGTGTATATATATACATATA TATATACGTGTATATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ESCO1_chr18_21524284_21605704	21593597	T T	TAGGGAGA others(41): Show TAGGGAGAGGGAGAGGGAGAGGGAGACGGAGAGGGAGAGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	107	0.0093	48	c.-82 others(67): Show c.-825+7025_-825+7026insCTCCCTCTCCCTCTCCCTCTCCGTCT CCCTCTCCCTCTCCCTCTCCCT	ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11			chr18	TogoVar
ESR2_chr14_64223317_64299371	64259777	T T	TTATGTAC others(41): Show TTATGTACATAATATTGATTCTCTACTGGAACAATAATTTACAAAATTC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0201 a0001c0002t0032g0201	1	366	0.0027	48	c.952 others(63): Show c.952+624_952+671dupGAATTTTGTAAATTATTGTTCCAGTAGAGA ATCAATATTATGTACATA	ESR2	ENSG00000140009.19	transcript	ENST00000341099.6	protein_coding	5/8			chr14	TogoVar
ESYT2_chr7_158725997_158834509	158797055	G G	GACGGGAA others(41): Show GACGGGAAAGGGCACTGCAGGCGAGAGGGCAGCAGGACAGCCTCCCGAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp2 others(23): Show HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 NA18612.hp1 NA18944.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp2 NA18965.hp1 NA18988.hp1 NA18989.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19056.hp1 NA19058.hp1 NA19074.hp2 NA19079.hp1 NA19087.hp2	a0002 a0002	a0002c0004 a0002c0009 a0002c0020 a0002c0004 a0002c0009 a0002c0020	a0002c0004t0001 a0002c0004t0003 a0002c0004t0038 others(2): Show a0002c0004t0001 a0002c0004t0003 a0002c0004t0038 a0002c0009t0003 a0002c0020t0003	a0002c0004t0001g0157 a0002c0004t0001g0163 a0002c0004t0001g0166 others(23): Show a0002c0004t0001g0157 a0002c0004t0001g0163 a0002c0004t0001g0166 a0002c0004t0001g0169 a0002c0004t0003g0147 a0002c0004t0003g0148 a0002c0004t0003g0149 a0002c0004t0003g0150 a0002c0004t0003g0152 a0002c0004t0003g0153 a0002c0004t0003g0154 a0002c0004t0003g0155 a0002c0004t0003g0156 a0002c0004t0003g0158 a0002c0004t0003g0160 a0002c0004t0003g0164 a0002c0004t0003g0165 a0002c0004t0003g0167 a0002c0004t0003g0168 a0002c0004t0003g0172 a0002c0004t0038g0159 a0002c0009t0003g0161 a0002c0009t0003g0162 a0002c0009t0003g0170 a0002c0009t0003g0171 a0002c0020t0003g0151	26	368	0.0707	48	c.507 others(63): Show c.507+886_507+887insGTCGGGAGGCTGTCCTGCTGCCCTCTCGCC TGCAGTGCCCTTTCCCGT	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	3/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158806058	C C	CGGCGCCG others(41): Show CGGCGCCGGGGCACACCGCGTGGGAGGCGCCGGGGCACACCGCGTGGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0004 a0003c0016t0004	a0003c0016t0004g0298 a0003c0016t0004g0298	1	306	0.0033	48	c.331 others(65): Show c.331-7034_331-6987dupTCCCACGCGGTGTGCCCCGGCGCCTCCC ACGCGGTGTGCCCCGGCGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar

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