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
EMC10_chr19_50471507_50495871	50472243	T T	TATGTATA others(24): Show TATGTATATATACATGTATGTGTGTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02723.hp1 NA20752.hp1 HG02647.hp1 HG02723.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0170 a0001c0002t0120 a0001c0001t0008 a0001c0001t0170 a0001c0002t0120	a0001c0001t0008g0001 a0001c0001t0170g0046 a0001c0002t0120g0031 a0001c0001t0008g0001 a0001c0001t0170g0046 a0001c0002t0120g0031	3	86	0.0349	31	c.-43 others(42): Show c.-4302_-4301insATGTATATATACATGTATGTGTGTATATATG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4263		chr19	TogoVar
EMC3_chr3_9957682_9991841	9963477	A A	AGATAGAT others(24): Show AGATAGATAGATAGATAGATAGATAGATATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0228 a0001c0001t0019g0228	1	178	0.0056	31	c.59 others(40): Show c.591_*592insAAATATCTATCTATCTATCTATCTATCTATC	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	591		chr3	TogoVar
EMC3_chr3_9957682_9991841	9963477	A A	AGATAGAT others(24): Show AGATAGATAGATAGATAGATAGATATATATTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0229 a0001c0001t0019g0229	1	178	0.0056	31	c.59 others(40): Show c.591_*592insAAATATATATCTATCTATCTATCTATCTATC	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	591		chr3	TogoVar
EML4_chr2_42164353_42337548	42245090	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0235 a0001c0001t0006g0235	1	353	0.0028	31	c.26- others(44): Show c.26-412_26-411insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	47	0.0213	31	c.26- others(44): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88796819	T T	TTATATAT others(24): Show TTATATATATTATATATTATATATATTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG02055.hp2 others(13): Show HG00408.hp1 HG00609.hp1 HG02055.hp2 HG02135.hp2 HG02622.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03669.hp1 HG03927.hp2 NA18747.hp2 NA18953.hp1 NA18964.hp2 NA18978.hp1 NA19030.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0003t0004 a0001c0001t0012 a0001c0003t0004	a0001c0001t0012g0324 a0001c0001t0012g0325 a0001c0001t0012g0326 others(13): Show a0001c0001t0012g0324 a0001c0001t0012g0325 a0001c0001t0012g0326 a0001c0001t0012g0327 a0001c0003t0004g0302 a0001c0003t0004g0303 a0001c0003t0004g0304 a0001c0003t0004g0305 a0001c0003t0004g0306 a0001c0003t0004g0308 a0001c0003t0004g0318 a0001c0003t0004g0319 a0001c0003t0004g0320 a0001c0003t0004g0321 a0001c0003t0004g0322 a0001c0003t0004g0328	16	330	0.0485	31	c.-43 others(42): Show c.-4317_-4316insCATATAATATATATAATATATAATATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3867		chr14	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02148.hp1 HG02273.hp2 others(3): Show HG01358.hp2 HG02148.hp1 HG02273.hp2 NA18950.hp1 NA18963.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0001c0027	a0001c0001t0001 a0001c0003t0002 a0001c0010t0004 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0010t0004 a0001c0027t0030	a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0003t0002g0192 others(3): Show a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0010t0004g0260 a0001c0027t0030g0135	6	99	0.0606	31	c.243 others(50): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02976.hp2 HG02451.hp1 HG02572.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0006 a0001c0005t0001 a0001c0005t0006 a0001c0002t0006 a0001c0005t0001 a0001c0005t0006	a0001c0002t0006g0055 a0001c0005t0001g0079 a0001c0005t0006g0086 a0001c0002t0006g0055 a0001c0005t0001g0079 a0001c0005t0006g0086	3	224	0.0134	31	c.243 others(50): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAGA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(24): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01517.hp2 NA21309.hp1 HG00642.hp2 HG01517.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0003 a0001c0002t0010 a0001c0006t0025 a0001c0001t0003 a0001c0002t0010 a0001c0006t0025	a0001c0001t0003g0145 a0001c0002t0010g0025 a0001c0006t0025g0213 a0001c0001t0003g0145 a0001c0002t0010g0025 a0001c0006t0025g0213	3	24	0.1250	31	c.496 others(48): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENDOG_chr9_128813500_128827676	128815218	A A	ATCGAGGC others(24): Show ATCGAGGCAGCGGCAGGCTCCTGCTGTGAGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	418	0.0024	31	c.-34 others(42): Show c.-3467_-3466insTCGAGGCAGCGGCAGGCTCCTGCTGTGAGCG	ENDOG	ENSG00000167136.7	transcript	ENST00000372642.5	protein_coding		3281		chr9	TogoVar
ENOX1_chr13_43208130_43791972	43541173	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0018 a0001c0002t0016g0018	1	9	0.1111	31	c.-21 others(52): Show c.-218-57022_-218-57021insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENPP3_chr6_131632302_131752410	131641799	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	102	0.0098	31	c.154 others(46): Show c.154+293_154+294insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131692861	A A	ATATATAT others(24): Show ATATATATGATATATAGTTATATATTATACAC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01516.hp2 HG03471.hp1 others(1): Show HG01258.hp2 HG01516.hp2 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0002g0218 others(1): Show a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0002g0218 a0001c0001t0003g0161	4	162	0.0247	31	c.128 others(48): Show c.1285-543_1285-513dupCTATATATGATATATAGTTATATATTAT ACA	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP4_chr6_46124989_46151688	46142392	A A	AATATATA others(24): Show AATATATATAATGTATATTATATATTATAATT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	313	0.0032	31	c.998 others(46): Show c.998-877_998-876insTAATGTATATTATATATTATAATTATATAT A	ENPP4	ENSG00000001561.7	transcript	ENST00000321037.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENTPD4_chr8_23424162_23462647	23427124	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	42	0.0238	31	c.58 others(42): Show c.5801_*5802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding		2037		chr8	TogoVar
ENY2_chr8_109329347_109350954	109349423	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	426	0.0023	31	c.59 others(42): Show c.5942_*5943insTATATATATATATATATATATATATATATAT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3470		chr8	TogoVar
EPB41_chr1_28909569_29125041	28921938	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	133	0.0075	31	c.-8+ others(46): Show c.-8+7170_-8+7171insATATATATATATATATATATATATATATAT A	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(24): Show ACACACACACACACACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	152	0.0066	31	c.-8+ others(48): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACCC CCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(24): Show ACACACACACACACACACACACACACCCCCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	152	0.0066	31	c.-8+ others(48): Show c.-8+20700_-8+20701insACACACACACACACACACACACACCCCC CCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(24): Show CACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01943.hp1 NA18973.hp2 others(1): Show HG00597.hp1 HG01943.hp1 NA18973.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0008t0002	a0001c0001t0001g0099 a0001c0001t0002g0112 a0001c0001t0010g0181 others(1): Show a0001c0001t0001g0099 a0001c0001t0002g0112 a0001c0001t0010g0181 a0001c0008t0002g0107	4	277	0.0144	31	c.-8+ others(48): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPC2_chr2_148639751_148792569	148774622	T T	TTATATTA others(24): Show TTATATTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01943.hp1 HG02071.hp2 HG00423.hp2 HG01943.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0085 a0001c0001t0002g0116 a0001c0001t0002g0047 a0001c0001t0002g0085 a0001c0001t0002g0116	3	212	0.0142	31	c.172 others(50): Show c.1720+3236_1720+3237insATATTATATATATATATATATATATA TATAT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	5	0.2000	31	c.270 others(50): Show c.270-10832_270-10831insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA3_chr3_89102621_89487134	89219688	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	92	0.0109	31	c.814 others(48): Show c.814+9182_814+9183insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA5_chr4_65314567_65675489	65418862	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0023 a0001c0001t0018g0023	1	41	0.0244	31	c.152 others(50): Show c.1527+1548_1527+1578dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	6/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576054	G G	GAAAGAAA others(24): Show GAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp1 HG00438.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0180 a0001c0002t0002g0219 a0001c0002t0002g0180 a0001c0002t0002g0219	2	200	0.0100	31	c.910 others(50): Show c.910+25586_910+25587insTCTTTTCTTTTCTTTCTTTCTTTCTT TCTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHB1_chr3_134790260_135265467	134882765	C C	CCTTTCTT others(24): Show CCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01243.hp1 NA18522.hp2 HG01169.hp1 HG01243.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0011 a0001c0003t0001 a0001c0001t0003 a0001c0002t0011 a0001c0003t0001	a0001c0001t0003g0090 a0001c0002t0011g0098 a0001c0003t0001g0089 a0001c0001t0003g0090 a0001c0002t0011g0098 a0001c0003t0001g0089	3	17	0.1765	31	c.59- others(48): Show c.59-43039_59-43038insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(24): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	50	0.0200	31	c.766 others(48): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	42	0.0238	31	c.114 others(50): Show c.1147+5288_1147+5289insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERBB4_chr2_211370717_212543802	211562769	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	22	0.0455	31	c.230 others(48): Show c.2302-682_2302-681insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211622990	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	43	0.0233	31	c.220 others(48): Show c.2202+931_2202+932insATATATATATATATATTTTTTTTTTTTT TTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	18/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212345265	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0046 a0001c0001t0009g0046	1	20	0.0500	31	c.82+ others(50): Show c.82+193183_82+193184insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	65984140	A A	ACTGACGT others(24): Show ACTGACGTTGGGAGTGGCTGGCCCTGCCAGCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02109.hp1 HG02258.hp1 others(13): Show HG01167.hp2 HG02109.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2	a0004 a0004	a0004c0005 a0004c0014 a0004c0017 a0004c0005 a0004c0014 a0004c0017	a0004c0005t0004 a0004c0005t0026 a0004c0014t0004 others(1): Show a0004c0005t0004 a0004c0005t0026 a0004c0014t0004 a0004c0017t0004	a0004c0005t0004g0008 a0004c0005t0004g0009 a0004c0005t0004g0010 others(13): Show a0004c0005t0004g0008 a0004c0005t0004g0009 a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0014 a0004c0005t0004g0015 a0004c0005t0004g0016 a0004c0005t0004g0017 a0004c0005t0004g0018 a0004c0005t0004g0020 a0004c0005t0004g0021 a0004c0005t0004g0022 a0004c0005t0004g0028 a0004c0005t0026g0013 a0004c0014t0004g0019 a0004c0017t0004g0012	16	304	0.0526	31	c.-57 others(48): Show c.-57-4490_-57-4489insGTTGGGAGTGGCTGGCCCTGCCAGCCCT GAC	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018553	T T	TTATATTA others(24): Show TTATATTATATAATATATATTATATTATATAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18978.hp1 NA18991.hp2 others(1): Show NA18954.hp1 NA18978.hp1 NA18991.hp2 NA19060.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0175 a0002c0003t0003g0176 a0002c0003t0003g0277 others(1): Show a0002c0003t0003g0175 a0002c0003t0003g0176 a0002c0003t0003g0277 a0002c0003t0003g0282	4	277	0.0144	31	c.534 others(48): Show c.534-2764_534-2763insTATATAATATATATTATATTATATAATA TAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1126986	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0045 a0001c0013t0045	a0001c0013t0045g0073 a0001c0013t0045g0073	1	16	0.0625	31	c.156 others(52): Show c.1569+10980_1569+10981insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1138100	T T	TTATAATA others(24): Show TTATAATATAATTATATATAATACATATTATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00741.hp1 others(29): Show HG00323.hp2 HG00639.hp1 HG00741.hp1 HG01109.hp2 HG01243.hp1 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp1 NA18982.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0001c0013 a0002c0002 others(3): Show a0001c0001 a0001c0013 a0002c0002 a0002c0006 a0006c0008 a0009c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(22): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0030 a0001c0001t0032 a0001c0001t0053 a0001c0001t0060 a0001c0013t0045 a0002c0002t0008 a0002c0002t0012 a0002c0002t0022 a0002c0002t0028 a0002c0002t0029 a0002c0002t0039 a0002c0002t0044 a0002c0002t0066 a0002c0002t0078 a0002c0006t0041 a0006c0008t0017 a0009c0009t0012	a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0005g0109 others(29): Show a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0005g0109 a0001c0001t0005g0111 a0001c0001t0005g0161 a0001c0001t0006g0113 a0001c0001t0006g0116 a0001c0001t0009g0072 a0001c0001t0012g0112 a0001c0001t0013g0041 a0001c0001t0018g0074 a0001c0001t0021g0153 a0001c0001t0030g0159 a0001c0001t0032g0129 a0001c0001t0053g0039 a0001c0001t0060g0130 a0001c0013t0045g0073 a0002c0002t0008g0135 a0002c0002t0008g0136 a0002c0002t0008g0137 a0002c0002t0008g0155 a0002c0002t0012g0115 a0002c0002t0022g0139 a0002c0002t0028g0097 a0002c0002t0029g0117 a0002c0002t0039g0104 a0002c0002t0044g0040 a0002c0002t0066g0134 a0002c0002t0078g0154 a0002c0006t0041g0081 a0006c0008t0017g0140 a0009c0009t0012g0110	32	160	0.2000	31	c.157 others(50): Show c.1570-3504_1570-3503insATAATACATATTATATATAATATAAT TATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTG others(24): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	132	0.0076	31	c.169 others(48): Show c.169+7179_169+7180insAAAAAAAAAAAAAAAAAAAAAAAACAAA AAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH4_chr19_41438156_41449765	41447972	C C	CCCCCATC others(24): Show CCCCCATCCCTCCCCCCCCCCACACCTCAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	31	c.37 others(42): Show c.3748_*3749insCCCCATCCCTCCCCCCCCCCACACCTCAACA	ERICH4	ENSG00000204978.3	transcript	ENST00000378187.3	protein_coding		3208		chr19	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0428 a0001c0001t0001g0428	1	185	0.0054	31	c.101 others(50): Show c.1013-1321_1013-1320insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00423.hp2 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0198 a0001c0001t0001g0203	2	68	0.0294	31	c.58- others(46): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ESRP1_chr8_94636174_94712466	94689811	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	76	0.0132	31	c.182 others(50): Show c.1821-2841_1821-2840insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRG_chr1_216498251_216728429	216524252	A A	ATATATAT others(24): Show ATATATATATATACATATATATATATGTAAGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0008 a0001c0006t0010g0008	1	279	0.0036	31	c.863 others(48): Show c.863-4832_863-4831insACTTACATATATATATATGTATATATAT ATA	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	5/6			chr1	TogoVar
ESYT2_chr7_158725997_158834509	158729615	G G	GTGCTGGG others(24): Show GTGCTGGGGGGGAGGAGCAGGTGTGGAGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0137 a0002c0002t0006g0137	1	362	0.0028	31	c.45 others(42): Show c.4591_*4592insGCACCTCCACACCTGCTCCTCCCCCCCAGCA	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1381		chr7	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18974.hp1 HG02723.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0160 a0001c0001t0001g0045 a0001c0001t0001g0160	2	227	0.0088	31	c.732 others(46): Show c.732+538_732+539insATATATATATATATATATATATATTTTTTT T	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETFA_chr15_76210353_76316469	76227515	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG02818.hp2 others(1): Show HG02630.hp2 HG02809.hp1 HG02818.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 others(1): Show a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110	4	13	0.3077	31	c.883 others(48): Show c.883-1587_883-1586insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	10/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76310369	G G	GAAAAAAA others(24): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0278 a0001c0001t0006g0278	1	11	0.0909	31	c.39+ others(44): Show c.39+980_39+981insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01516.hp2 HG01123.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0228 a0001c0001t0002g0148 a0001c0001t0002g0228	2	12	0.1667	31	c.-54 others(40): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(24): Show GATATATATATTTTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02071.hp1 HG02165.hp1 others(39): Show HG02015.hp1 HG02071.hp1 HG02165.hp1 HG03710.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18972.hp1 NA18977.hp1 NA18982.hp2 NA18984.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19009.hp2 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19087.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0016 a0002c0002t0002g0035 others(21): Show a0002c0002t0002g0001 a0002c0002t0002g0016 a0002c0002t0002g0035 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0101 a0002c0002t0002g0108 a0002c0002t0002g0264 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0271 a0002c0002t0002g0273 a0002c0002t0002g0276 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0292	42	291	0.1443	31	c.701 others(46): Show c.701+321_701+322insATATATATATATATATATAAAATATATATA T	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	4	0.2500	31	c.-32 others(42): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2836		chr19	TogoVar
ETV3_chr1_157116191_157143395	157126913	G G	GCAGAGCT others(24): Show GCAGAGCTGCCCTGGCTGACTGTGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp2 HG01884.hp2 others(12): Show HG00438.hp2 HG01109.hp2 HG01884.hp2 HG02027.hp2 HG02074.hp1 HG02280.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03453.hp1 HG03669.hp2 NA18906.hp1 NA19043.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0040 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0066	15	402	0.0373	31	c.401 others(46): Show c.401-965_401-935dupTCCCTCCCCACAGTCAGCCAGGGCAGCTCT G	ETV3	ENSG00000117036.12	transcript	ENST00000368192.9	protein_coding	4/4			chr1	TogoVar
ETV6_chr12_11644674_11900377	11650481	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	167	0.0060	31	c.33+ others(44): Show c.33+335_33+336insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar

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