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
EPB41L4B_chr9_109166974_109326059	109290722	T T	TATATATA others(37): Show TATATATATATATATATATACACACACACACATACATATATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0078 a0002c0005t0016g0078	1	316	0.0032	44	c.307 others(63): Show c.307-10802_307-10801insGTATATATATGTATGTGTGTGTGTGT ATATATATATATATATAT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41_chr1_28909569_29125041	28990296	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18906.hp2 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0032 a0001c0002t0007 a0001c0002t0032	a0001c0002t0007g0197 a0001c0002t0032g0203 a0001c0002t0007g0197 a0001c0002t0032g0203	2	23	0.0870	44	c.468 others(61): Show c.468+2410_468+2411insTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTC	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(37): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	59	0.0169	44	c.154 others(61): Show c.154-1434_154-1433insGAAGGAAGGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAG	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(37): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0193 a0002c0002t0004g0193	1	59	0.0169	44	c.154 others(61): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAG	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(37): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA20905.hp1 HG01109.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0003 a0002c0002t0004	a0002c0002t0003g0187 a0002c0002t0004g0151 a0002c0002t0003g0187 a0002c0002t0004g0151	2	60	0.0333	44	c.154 others(61): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGAAAGAAAG AAAGAAAGAAAGAAAG	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(37): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02004.hp1 HG01106.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0004 a0002c0005t0005 a0002c0002t0004 a0002c0005t0005	a0002c0002t0004g0191 a0002c0005t0005g0083 a0002c0002t0004g0191 a0002c0005t0005g0083	2	60	0.0333	44	c.154 others(61): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGAAAG AAAGAAAGAAAGAAAG	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(37): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0180 a0002c0002t0004g0180	1	59	0.0169	44	c.154 others(61): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA5_chr4_65314567_65675489	65576113	G G	GAAAAGAA others(37): Show GAAAAGAAAAGAAAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0192 a0001c0001t0022g0192	1	73	0.0137	44	c.910 others(63): Show c.910+25527_910+25528insTCTTTTCTTTTCTTTTCTTTTCTTTT TTTCTTTTCTTTTCTTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	197	0.0051	44	c.432 others(61): Show c.4323+273_4323+274insGTGTGTGTATATATATATATATATATAT ATATATATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04228.hp2 NA18981.hp2 HG02738.hp1 HG04228.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0235 a0001c0001t0002g0260 a0001c0001t0002g0119 a0001c0001t0002g0235 a0001c0001t0002g0260	3	199	0.0151	44	c.432 others(61): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATATATATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPS8L2_chr11_701231_732727	720958	C C	CCCGGCAG others(37): Show CCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGAGGGAGGGGAGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0067 a0001c0004t0005g0067	1	383	0.0026	44	c.557 others(57): Show c.557+71_557+72insCGGCAGGGAGGGAGGGGAGGAGCCGGCAGGGG AGGGGAGGAGCC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L2_chr11_701231_732727	720985	G G	GGGGAGGG others(37): Show GGGGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0296 a0001c0002t0001g0296	1	370	0.0027	44	c.558 others(57): Show c.558-64_558-63insGGCAGGGGAGGGGAGGAGCCCGGCAGGGAGGG AGGGGAGGAGCC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPSTI1_chr13_42881388_42997241	42926041	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA19003.hp1 NA19075.hp2 others(1): Show HG01099.hp1 NA19003.hp1 NA19075.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 others(1): Show a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0002t0026	a0001c0001t0008g0094 a0001c0001t0012g0209 a0001c0001t0013g0140 others(1): Show a0001c0001t0008g0094 a0001c0001t0012g0209 a0001c0001t0013g0140 a0001c0002t0026g0078	4	123	0.0325	44	c.657 others(59): Show c.657+294_657+295insACCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10			chr13	TogoVar
ERBB4_chr2_211370717_212543802	211515912	A A	ATATATAT others(37): Show ATATATATATATATATATATATACATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	26	0.0385	44	c.248 others(65): Show c.2487+45990_2487+45991insAAAAAAAAAAAAAATATATATGTA TATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1121779	A A	ATCTCTAT others(37): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02615.hp2 HG02922.hp2 others(1): Show HG01106.hp2 HG02615.hp2 HG02922.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0019 a0001c0003t0002 a0002c0002t0024 others(1): Show a0001c0001t0019 a0001c0003t0002 a0002c0002t0024 a0002c0002t0034	a0001c0001t0019g0157 a0001c0003t0002g0021 a0002c0002t0024g0148 others(1): Show a0001c0001t0019g0157 a0001c0003t0002g0021 a0002c0002t0024g0148 a0002c0002t0034g0158	4	87	0.0460	44	c.156 others(63): Show c.1569+5749_1569+5750insCTATCTGTGTCTCTATCTCTATCTCT ATCTCTATCTGTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121895	A A	ATCTGTGT others(37): Show ATCTGTGTCTCTATCTCTATATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0114 a0001c0003t0006g0114	1	138	0.0072	44	c.156 others(63): Show c.1569+5865_1569+5866insGTGTCTCTATCTCTATATCTCTATCT CTATCTCTATCTGTGTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122071	A A	ATCTCTAT others(37): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTATCTCTATCTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	80	0.0125	44	c.156 others(63): Show c.1569+6039_1569+6040insCTCTATCTGTGTCTCTATCTCTATCT CTATCTATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122222	T T	TATCTCTA others(37): Show TATCTCTATCTGTGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0020 a0002c0007t0020	a0002c0007t0020g0071 a0002c0007t0020g0071	1	159	0.0063	44	c.156 others(63): Show c.1569+6199_1569+6200insGTGCCTATTGATATATCTGTATATAT CTATCTAAATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122270	T T	TATCTCTA others(37): Show TATCTCTATCTGTGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	157	0.0064	44	c.156 others(63): Show c.1569+6241_1569+6242insCTATCTGTGCCTATTGATATATCTGT ATATATCTATCTAAATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122475	G G	GCCTATTG others(37): Show GCCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0020 a0002c0007t0020	a0002c0007t0020g0071 a0002c0007t0020g0071	1	103	0.0097	44	c.156 others(63): Show c.1569+6442_1569+6443insCCTATTGATATATCTGTATATATCTA TCTAAATCTCTATCTCTA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1122601	G G	GCCTATTG others(37): Show GCCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19030.hp1 HG01175.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0042 a0002c0002t0002 a0001c0001t0042 a0002c0002t0002	a0001c0001t0042g0085 a0002c0002t0002g0037 a0001c0001t0042g0085 a0002c0002t0002g0037	2	122	0.0164	44	c.156 others(63): Show c.1569+6568_1569+6569insCCTATTGATATATCTGTATATATCTA TCTAAATCTCTATCTCTA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC2_chr3_55503311_56473467	55714676	T T	TGTATATA others(37): Show TGTATATATATATGTGTGTATATATATATGTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	72	0.0139	44	c.271 others(65): Show c.2713-15165_2713-15164insGTGTATATATATATACATATATAT ATACACACATATATATATAC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERGIC1_chr5_172829251_172957683	172908323	A A	AGGGGAGG others(37): Show AGGGGAGGGGGGGAGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	309	0.0032	44	c.156 others(61): Show c.156-1325_156-1324insGAGGGGGGGGGGAGAGAGGGGAGGGGGG GAGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908323	A A	AGGGGAGG others(37): Show AGGGGAGGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	309	0.0032	44	c.156 others(61): Show c.156-1325_156-1324insGGGAGGGGGGGGAGAGAGGGGAGGGGGG GAGGGGGGGAGGGGGG	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(37): Show AGGGGGGGAGGGGGGGGAGGGGGGGGAGAGAGGGGAGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	254	0.0039	44	c.156 others(61): Show c.156-1325_156-1324insGGAGGGGGGGGAGAGAGGGGAGAGGGGG AGGGGGGGGAGGGGGG	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(37): Show AGGGGGGGAGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp2 HG02523.hp2 others(5): Show HG01169.hp1 HG01169.hp2 HG02523.hp2 HG06807.hp1 NA18943.hp1 NA18986.hp1 NA18986.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0168 others(5): Show a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0168 a0001c0001t0001g0244 a0001c0001t0001g0254 a0001c0001t0002g0011 a0001c0001t0002g0135 a0001c0001t0006g0003	8	261	0.0307	44	c.156 others(61): Show c.156-1325_156-1324insGGAGGGGGGGGAGAGAGGGGAGGGGGGG AGGGGGGGGAGGGGGG	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(37): Show AGGGGGGGGAGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	254	0.0039	44	c.156 others(61): Show c.156-1332_156-1331insGAGGGGGGGAGGGGGGGGAGAGAGGGGA GGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GAGGGGGG others(37): Show GAGGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	211	0.0047	44	c.156 others(61): Show c.156-1323_156-1322insAGGGGGGGGGGAGAGAGGGGAGGGGGGG AGGGGGGGAGGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GGGGGGGG others(37): Show GGGGGGGGGAGAGAGGGGAGGGGGGGGAGGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	211	0.0047	44	c.156 others(61): Show c.156-1315_156-1314insAGAGAGGGGAGGGGGGGGAGGGGGGGGG AGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH1_chr8_659200_736224	700234	G G	GATCCGCA others(37): Show GATCCGCACACGCGCACAGGGCCGCACAGGCGCACAGGCCCGCAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0293 a0003c0004t0002g0293	1	375	0.0027	44	c.170 others(61): Show c.170-7623_170-7622insGTGCGGGCCTGTGCGCCTGTGCGGCCCT GTGCGCGTGTGCGGAT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	714194	T T	TGGGATGT others(37): Show TGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	376	0.0027	44	c.169 others(61): Show c.169+1623_169+1666dupCACCGAGAGATGCCGGAAGAGGCCGCCT GGGTGCAGCACATCCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073438	A A	ATATATAT others(37): Show ATATATATATATATATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	173	0.0058	44	c.58+ others(59): Show c.58+8728_58+8729insGTATATATATATATATATATATATATGTAT ATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCCTT others(37): Show CTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA20752.hp1 HG01934.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0056 a0001c0001t0001g0068	2	186	0.0108	44	c.101 others(63): Show c.1013-1321_1013-1320insTTTCCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091993	C C	CCCTTCCT others(37): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG01081.hp1 others(29): Show HG00544.hp1 HG00639.hp1 HG01081.hp1 HG01109.hp2 HG02056.hp2 HG02129.hp1 HG02602.hp1 HG02683.hp1 HG02717.hp2 HG02738.hp2 HG03239.hp2 HG03486.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 NA18952.hp2 NA18953.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18991.hp1 NA19057.hp1 NA19060.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0057 a0001c0001t0001g0330 a0001c0001t0002g0064 others(29): Show a0001c0001t0001g0057 a0001c0001t0001g0330 a0001c0001t0002g0064 a0001c0001t0002g0085 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0122 a0001c0001t0002g0128 a0001c0001t0002g0153 a0001c0001t0002g0177 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0214 a0001c0001t0002g0238 a0001c0001t0002g0245 a0001c0001t0002g0251 a0001c0001t0002g0267 a0001c0001t0002g0295 a0001c0001t0002g0315 a0001c0001t0002g0319 a0001c0001t0002g0322 a0001c0001t0002g0341 a0001c0001t0002g0355 a0001c0001t0002g0376 a0001c0001t0002g0403 a0001c0001t0002g0406 a0001c0001t0002g0411 a0001c0001t0003g0033	32	93	0.3441	44	c.101 others(63): Show c.1013-1196_1013-1195insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERO1B_chr1_236210101_236286958	236239839	A A	ATATATAT others(37): Show ATATATATATATATGTGTATATATATATATATGTGTATATATATG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0052 a0001c0009t0052	a0001c0009t0052g0264 a0001c0009t0052g0264	1	386	0.0026	44	c.506 others(61): Show c.506-3442_506-3441insCATATATATACACATATATATATATATA CACATATATATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15			chr1	TogoVar
ERP44_chr9_99974185_100104000	100100692	A A	ATATGTAC others(37): Show ATATGTACATATAATATATATATTATATGTATATATTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0087 a0001c0001t0010g0087	1	203	0.0049	44	c.-18 others(55): Show c.-1853_-1852insATATATATAATATATACATATAATATATATATTA TATGTACATA	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		1693		chr9	TogoVar
ESRP1_chr8_94636174_94712466	94668789	A A	ATGTGTGT others(37): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19054.hp1 NA18974.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0201 a0001c0001t0001g0072 a0001c0001t0001g0201	2	127	0.0157	44	c.123 others(61): Show c.1233+558_1233+559insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ETDB_chrX_135113955_135125526	135115699	C C	CATCTATT others(37): Show CATCTATTACTATATAATCTATTAATATATATTATTATATACAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	314	0.0032	44	c.33 others(55): Show c.3382_*3383insATTGTATATAATAATATATATTAATAGATTATAT AGTAATAGAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3255		chrX	TogoVar
ETDB_chrX_135113955_135125526	135115765	T T	TTATATAT others(37): Show TTATATATTATTATATACAATATCTATTACTATATAATCTATTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02080.hp1 HG06807.hp2 HG00597.hp2 HG02080.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008	3	314	0.0096	44	c.33 others(55): Show c.3316_*3317insTTAATAGATTATATAGTAATAGATATTGTATATA ATAATATATA	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3189		chrX	TogoVar
ETF1_chr5_138501095_138548236	138510357	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	14	0.0714	44	c.108 others(61): Show c.1083+207_1083+208insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	9/10			chr5	TogoVar
ETV6_chr12_11644674_11900377	11669385	C C	CCATCCCT others(37): Show CCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	260	0.0038	44	c.33+ others(61): Show c.33+19226_33+19227insATCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCTTTC	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXD1_chr15_41177728_41235757	41179536	A A	AAAGGAAG others(37): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0096 a0001c0005t0001g0096	1	172	0.0058	44	c.43 others(55): Show c.4394_*4395insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding		3191		chr15	TogoVar
EXD1_chr15_41177728_41235757	41199757	T T	TATATAAT others(37): Show TATATAATATATCATATATGTGATATATAATATATCATATATATG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp2 HG02976.hp1 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0014 a0001c0002 a0004c0014	a0001c0002t0014 a0004c0014t0001 a0001c0002t0014 a0004c0014t0001	a0001c0002t0014g0094 a0004c0014t0001g0194 a0001c0002t0014g0094 a0004c0014t0001g0194	2	42	0.0476	44	c.535 others(61): Show c.535-3721_535-3720insCATATATATGATATATTATATATCACAT ATATGATATATTATAT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	7/11			chr15	TogoVar
EXD1_chr15_41177728_41235757	41199757	T T	TATATCAT others(37): Show TATATCATATGTGATATATAATATATCATATATATGATATATATC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03041.hp2 HG01891.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0155 a0001c0001t0002g0156	2	42	0.0476	44	c.535 others(61): Show c.535-3721_535-3720insGATATATATCATATATATGATATATTAT ATATCACATATGATAT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	7/11			chr15	TogoVar
EXD3_chr9_137301896_137428162	137328901	A A	AGCTACAC others(37): Show AGCTACACGGGAGCTACACGGGGCTACACGGGAGCTACACGGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0038 a0015c0022t0001g0038	1	53	0.0189	44	c.199 others(63): Show c.1999-4759_1999-4758insCTCCCGTGTAGCTCCCGTGTAGCCCC GTGTAGCTCCCGTGTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137355548	A A	AGGAGAAA others(37): Show AGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGGAGGAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18747.hp2 HG00423.hp2 NA18747.hp2	a0003 a0012 a0003 a0012	a0003c0003 a0012c0011 a0003c0003 a0012c0011	a0003c0003t0001 a0012c0011t0001 a0003c0003t0001 a0012c0011t0001	a0003c0003t0001g0074 a0012c0011t0001g0055 a0003c0003t0001g0074 a0012c0011t0001g0055	2	74	0.0270	44	c.757 others(59): Show c.757+719_757+720insATCCTCCCTTCCTCCTTCCTCCTTTCTCCT TCCTCCCTTTCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXOC6B_chr2_72170984_72831033	72773120	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0076 a0001c0002t0009g0076	1	63	0.0159	44	c.114 others(63): Show c.114-31652_114-31651insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXOC6_chr10_92843520_93064490	92974540	G G	GCTCGTCT others(37): Show GCTCGTCTCCCTCTCCCCACGGTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	37	0.0270	44	c.195 others(61): Show c.1953+324_1953+325insCACGGTCTCCCTCTCCCTCTCCCTCTCC CTCGTCTCCCTCTCCC	EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOSC7_chr3_44971244_45016471	45009642	T T	TGGTTCAA others(37): Show TGGTTCAAGTGATTCTGCCTCAGCTTCCCGAGTAGCTGGGATTGC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	338	0.0030	44	c.772 others(61): Show c.772-1592_772-1549dupGGTTCAAGTGATTCTGCCTCAGCTTCCC GAGTAGCTGGGATTGC	EXOSC7	ENSG00000075914.13	transcript	ENST00000265564.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
EXT1_chr8_117789490_118116826	117955568	A A	ATATATAT others(37): Show ATATATATTTCTTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0166 a0001c0001t0023g0166	1	185	0.0054	44	c.963 others(65): Show c.963-118368_963-118367insAAAAAAAAAAAAAAAAAAAAAAAA GAAAGAAAAAGAAATATATA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar

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