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
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(15): Show ACACACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	18	0.0556	22	c.696 others(39): Show c.696+1880_696+1881insACACACACACTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(15): Show ACACACACACATACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02735.hp2 HG02738.hp2 others(2): Show HG01952.hp1 HG02735.hp2 HG02738.hp2 HG03710.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0226 a0001c0002t0001g0267 a0001c0002t0001g0269 others(2): Show a0001c0002t0001g0226 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0273 a0001c0002t0001g0274	5	22	0.2273	22	c.696 others(39): Show c.696+1880_696+1881insACACACACATACACTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(15): Show ACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	18	0.0556	22	c.696 others(39): Show c.696+1880_696+1881insACACACACTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACTC others(15): Show ACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	18	0.0556	22	c.696 others(39): Show c.696+1880_696+1881insACACTCTCTCTCTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F5_chr8_85172154_85219518	85180511	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18993.hp1 NA18980.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0212 a0001c0002t0001g0015 a0001c0002t0001g0212	2	9	0.2222	22	c.234 others(39): Show c.234+2880_234+2901dupATATATATATATATATATATAT	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	117	0.0085	22	c.-29 others(33): Show c.-2977_-2976insATATATATATATTTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 NA18973.hp1 HG01928.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0189 a0001c0001t0002g0161 a0001c0001t0002g0189	2	118	0.0169	22	c.-29 others(33): Show c.-2977_-2976insATATATATATATATTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 NA18969.hp2 HG03704.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0164 a0001c0001t0002g0136 a0001c0001t0001g0164 a0001c0001t0002g0136	2	118	0.0169	22	c.-29 others(33): Show c.-2977_-2976insATATATATATATATATTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	117	0.0085	22	c.-29 others(33): Show c.-2977_-2976insATATATATATATATATATTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EAPP_chr14_34510938_34544701	34524657	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	70	0.0143	22	c.581 others(35): Show c.581+18_581+39dupCACACACACACACACACACACA	EAPP	ENSG00000129518.10	transcript	ENST00000250454.8	protein_coding	5/5			chr14	TogoVar
EBF1_chr5_158690920_159104916	158969919	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00408.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0075 a0001c0001t0068 a0001c0001t0075	a0001c0001t0068g0062 a0001c0001t0075g0072 a0001c0001t0068g0062 a0001c0001t0075g0072	2	155	0.0129	22	c.554 others(43): Show c.554+103476_554+103477insCTTTCTTTCTTTCTTTCTTTCT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	159050162	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTTCTCTCTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0117 a0001c0001t0021g0117	1	196	0.0051	22	c.554 others(41): Show c.554+23233_554+23234insAAAGAGAGAAGAGAGAGAGAGA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF3_chr10_129830233_129969274	129875187	C C	CTTCTTTT others(15): Show CTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	253	0.0040	22	c.637 others(39): Show c.637-1592_637-1591insAAAAAAAAAAAAAAAAAAAGAA	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	7/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129917651	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp2 HG02109.hp2 others(8): Show HG00738.hp1 HG01255.hp2 HG02109.hp2 HG02818.hp2 HG02895.hp1 HG03486.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG04204.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0023 a0001c0001t0033 a0001c0001t0052 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0009 a0001c0001t0001g0074 a0001c0001t0001g0159 others(8): Show a0001c0001t0001g0009 a0001c0001t0001g0074 a0001c0001t0001g0159 a0001c0001t0001g0283 a0001c0001t0006g0121 a0001c0001t0007g0003 a0001c0001t0023g0271 a0001c0001t0033g0015 a0001c0001t0052g0323 a0001c0002t0004g0302 a0001c0002t0006g0316	11	59	0.1864	22	c.554 others(41): Show c.554+39585_554+39606dupTTTTTTTTTTTTTTTTTTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBI3_chr19_4224523_4242528	4236518	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02451.hp1 HG03225.hp2 others(6): Show HG02135.hp2 HG02451.hp1 HG03225.hp2 NA18943.hp2 NA18944.hp2 NA18952.hp2 NA18956.hp1 NA18964.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0048 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0083 a0001c0001t0001g0163 a0001c0001t0001g0182	9	14	0.6429	22	c.538 others(37): Show c.538-414_538-393dupAAAAAAAAAAAAAAAAAAAAAA	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
EBNA1BP2_chr1_43159184_43177290	43174002	T T	TCATTAAT others(15): Show TCATTAATGATGATGAGTATCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	390	0.0026	22	c.-19 others(33): Show c.-1906_-1885dupCAGATACTCATCATCATTAATG	EBNA1BP2	ENSG00000117395.13	transcript	ENST00000236051.3	protein_coding		1713		chr1	TogoVar
EBPL_chr13_49655674_49696486	49673962	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	49	0.0204	22	c.172 others(39): Show c.172-4138_172-4117dupGTGTGTGTGTGTGTGTGTGTGT	EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding	1/3			chr13	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	249	0.0040	22	c.-28 others(39): Show c.-28+3917_-28+3918insAAAAAAAAAAAAAAAAAAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	152	0.0066	22	c.-28 others(39): Show c.-28+2604_-28+2605insATATATATATATATTTTTTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407428	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	325	0.0031	22	c.265 others(41): Show c.2652+1142_2652+1143insCTTTTTTTTTTTTTTTTTTTTT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111468689	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02109.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0301 a0002c0002t0004g0302 a0002c0002t0004g0301 a0002c0002t0004g0302	2	294	0.0068	22	c.22+ others(37): Show c.22+4207_22+4208insACACACACACACACACACACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECSCR_chr5_139443560_139467743	139446479	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA19005.hp2 NA19064.hp2 NA18990.hp2 NA19005.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005	3	351	0.0085	22	c.24 others(33): Show c.2420_*2421insGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2080		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446487	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 NA20752.hp1 HG01192.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0005 a0001c0001t0001g0028	2	366	0.0055	22	c.24 others(33): Show c.2412_*2413insGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2072		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446491	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	361	0.0055	22	c.24 others(33): Show c.2408_*2409insGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2068		chr5	TogoVar
ECSIT_chr19_11500929_11534134	11508383	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01928.hp1 others(5): Show HG00735.hp1 HG01106.hp2 HG01928.hp1 HG02148.hp2 HG02559.hp1 HG03041.hp1 NA18960.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0035 a0001c0001t0002g0096 others(4): Show a0001c0001t0002g0019 a0001c0001t0002g0035 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105	8	220	0.0364	22	c.739 others(37): Show c.739-336_739-335insAAAAAAAAAAAAAAAAAAAAAA	ECSIT	ENSG00000130159.15	transcript	ENST00000270517.12	protein_coding	4/7			chr19	TogoVar
ECT2L_chr6_138791087_138909070	138873892	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp1 HG03041.hp2 others(1): Show HG02723.hp2 HG02922.hp1 HG03041.hp2 NA20300.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0011 a0002c0003t0025 a0003c0004t0009 a0002c0003t0011 a0002c0003t0025 a0003c0004t0009	a0002c0003t0011g0325 a0002c0003t0025g0244 a0003c0004t0009g0298 others(1): Show a0002c0003t0011g0325 a0002c0003t0025g0244 a0003c0004t0009g0298 a0003c0004t0009g0309	4	312	0.0128	22	c.157 others(41): Show c.1579-2559_1579-2558insATGTGTGTGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138873894	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01943.hp1 HG02109.hp1 others(4): Show HG01884.hp2 HG01943.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG03139.hp1 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0005c0019 a0001c0001 a0005c0005 a0005c0019	a0001c0001t0001 a0005c0005t0001 a0005c0019t0005 a0001c0001t0001 a0005c0005t0001 a0005c0019t0005	a0001c0001t0001g0026 a0005c0005t0001g0300 a0005c0005t0001g0301 others(4): Show a0001c0001t0001g0026 a0005c0005t0001g0300 a0005c0005t0001g0301 a0005c0005t0001g0302 a0005c0005t0001g0303 a0005c0005t0001g0317 a0005c0019t0005g0276	7	199	0.0352	22	c.157 others(41): Show c.1579-2557_1579-2556insATGTGTGTGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138873896	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0310 a0003c0004t0009g0310	1	324	0.0031	22	c.157 others(41): Show c.1579-2557_1579-2556insGTATGTGTGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138908854	G G	GAAGACAT others(15): Show GAAGACATTCATAGTTAGCACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	324	0.0031	22	c.62 others(33): Show c.6227_*6228insAAGACATTCATAGTTAGCACTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding		4785		chr6	TogoVar
ECT2_chr3_172745726_172826474	172797018	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0237 a0001c0001t0004g0237	1	78	0.0128	22	c.190 others(41): Show c.1908-5584_1908-5563dupGTGTGTGTGTGTGTGTGTGTGT	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	18/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
EDARADD_chr1_236389286_236489930	236405925	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18951.hp1 NA18979.hp2 others(1): Show HG00558.hp2 NA18951.hp1 NA18979.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0001c0001t0001 a0001c0001t0004 a0002c0002t0002	a0001c0001t0001g0111 a0001c0001t0001g0168 a0001c0001t0004g0002 others(1): Show a0001c0001t0001g0111 a0001c0001t0001g0168 a0001c0001t0004g0002 a0002c0002t0002g0251	4	242	0.0165	22	c.62- others(37): Show c.62-3290_62-3289insTTCTTTCTTTCTTTCTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01123.hp2 HG01256.hp1 others(24): Show HG00438.hp2 HG01123.hp2 HG01256.hp1 HG01891.hp2 HG02027.hp1 HG02083.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02683.hp1 HG02717.hp1 HG02965.hp1 HG03041.hp2 HG04184.hp2 NA18944.hp1 NA18953.hp1 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18977.hp1 NA18983.hp1 NA18985.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp1 NA19091.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0019	a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0053 others(24): Show a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0053 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0002g0037 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0126 a0001c0001t0002g0155 a0001c0001t0003g0060 a0001c0001t0003g0088 a0001c0001t0003g0153 a0001c0001t0003g0160 a0001c0001t0008g0107 a0001c0001t0019g0161	27	60	0.4500	22	c.396 others(41): Show c.396+39062_396+39083dupATATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69888977	G G	GATAGATA others(15): Show GATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19009.hp1 HG01496.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0021 a0001c0001t0002g0169 a0001c0001t0001g0021 a0001c0001t0002g0169	2	181	0.0110	22	c.397 others(41): Show c.397-68050_397-68049insATAGATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDA_chrX_69611113_70044472	69888977	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG04184.hp1 HG00423.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0118 a0001c0001t0002g0051 a0001c0001t0001g0118 a0001c0001t0002g0051	2	181	0.0110	22	c.397 others(41): Show c.397-68050_397-68049insATATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDA_chrX_69611113_70044472	69888978	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02027.hp1 HG02602.hp1 others(5): Show HG00741.hp2 HG02027.hp1 HG02602.hp1 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA19066.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0053 a0001c0001t0001g0083 a0001c0001t0001g0222 others(5): Show a0001c0001t0001g0053 a0001c0001t0001g0083 a0001c0001t0001g0222 a0001c0001t0002g0037 a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0002g0155 a0001c0001t0003g0148	8	26	0.3077	22	c.397 others(41): Show c.397-68027_397-68006dupATATATATATATATATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDC3_chr15_74625558_74701024	74668764	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	282	0.0035	22	c.484 others(39): Show c.484+2690_484+2691insCTTTCTTTCTTTCTTTCTTTCT	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDEM2_chr20_35110364_35152336	35141738	T T	TCCAATTC others(15): Show TCCAATTCATTAGGTTTAGGGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0131 a0007c0010t0001g0131	1	330	0.0030	22	c.364 others(37): Show c.364+613_364+634dupCACCCTAAACCTAATGAATTGG	EDEM2	ENSG00000088298.13	transcript	ENST00000374492.8	protein_coding	4/10			chr20	TogoVar
EDEM3_chr1_184685237_184759858	184720509	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp2 HG03139.hp1 HG02258.hp1 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0002 a0001c0003t0009g0002	3	189	0.0159	22	c.951 others(37): Show c.951+779_951+780insAAAAAAAAAAAAAAAAAAAAAA	EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	9/19			chr1	TogoVar
EDIL3_chr5_83935554_84389880	83987865	G G	GTGTGTGT others(15): Show GTGTGTGTGTATGTATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp2 HG03098.hp1 others(1): Show HG02895.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0003t0005 a0001c0001t0003 a0001c0003t0003 a0001c0003t0005	a0001c0001t0003g0060 a0001c0001t0003g0146 a0001c0003t0003g0043 others(1): Show a0001c0001t0003g0060 a0001c0001t0003g0146 a0001c0003t0003g0043 a0001c0003t0005g0050	4	142	0.0282	22	c.113 others(43): Show c.1138-24506_1138-24505insTATATATATACATACACACACA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84230763	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 NA18984.hp2 HG01070.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0095 a0001c0001t0003g0096 a0001c0001t0002g0095 a0001c0001t0003g0096	2	32	0.0625	22	c.197 others(37): Show c.197-901_197-880dupCACACACACACACACACACACA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01515.hp1 HG02683.hp1 others(5): Show HG00738.hp1 HG01515.hp1 HG02683.hp1 HG02738.hp1 HG02965.hp2 HG03098.hp2 HG03704.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0014	a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0069 others(5): Show a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0123 a0001c0001t0002g0048 a0001c0001t0003g0088 a0001c0002t0001g0011 a0001c0002t0014g0066	8	25	0.3200	22	c.196 others(39): Show c.196+1569_196+1590dupTTTTTTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02683.hp2 HG02922.hp1 others(2): Show HG00323.hp2 HG02683.hp2 HG02922.hp1 HG03669.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0014 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0014 a0001c0004t0003	a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0004g0022 others(2): Show a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0004g0022 a0001c0002t0014g0066 a0001c0004t0003g0054	5	6	0.8333	22	c.68- others(37): Show c.68-8469_68-8448dupAAAAAAAAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84340534	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	82	0.0122	22	c.67+ others(39): Show c.67+43773_67+43774insTATATATAGAGAGAGAGAGAGA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84371319	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG04184.hp2 HG02145.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0149 a0001c0001t0006g0072 a0001c0001t0001g0149 a0001c0001t0006g0072	2	108	0.0185	22	c.67+ others(39): Show c.67+12967_67+12988dupTATATATATATATATATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDN1_chr6_12285361_12302194	12285503	T T	TGTGGTGA others(15): Show TGTGGTGAGCATGTTCCCCAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	450	0.0022	22	c.-51 others(33): Show c.-5127_-5126insGTGGTGAGCATGTTCCCCAAGG	EDN1	ENSG00000078401.7	transcript	ENST00000379375.6	protein_coding		4857		chr6	TogoVar
EEA1_chr12_92765637_92934295	92869752	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0151 a0002c0003t0002g0151	1	16	0.0625	22	c.118 others(39): Show c.118-4787_118-4766dupTTTTTTTTTTTTTTTTTTTTTT	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	2/28			chr12	TogoVar
EED_chr11_86239753_86283810	86268594	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	122	0.0082	22	c.966 others(35): Show c.966+44_966+65dupGTGTGTGTGTGTGTGTGTGTGT	EED	ENSG00000074266.23	transcript	ENST00000263360.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
EEF1A2_chr20_63483014_63504083	63490068	T T	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01192.hp1 others(5): Show HG00735.hp2 HG01070.hp2 HG01192.hp1 HG01928.hp2 HG03831.hp1 NA18970.hp2 NA19011.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0002t0001g0185 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0002t0001g0185 a0001c0004t0001g0013 a0001c0004t0001g0017 a0001c0004t0001g0074	8	368	0.0217	22	c.102 others(39): Show c.1029+410_1029+411insGAAAAAAAAAAAAAAAAAAAAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	6/7			chr20	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp2 HG01192.hp2 others(5): Show HG00408.hp2 HG00673.hp2 HG01192.hp2 HG03130.hp1 HG03710.hp2 NA18951.hp1 NA19000.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0018 a0001c0001t0001 a0001c0001t0015 a0001c0001t0018	a0001c0001t0001g0099 a0001c0001t0001g0170 a0001c0001t0001g0171 others(5): Show a0001c0001t0001g0099 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0015g0172 a0001c0001t0018g0018	8	87	0.0920	22	c.291 others(37): Show c.291+332_291+333insTATATATATATATATATATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF2K_chr16_22201278_22293738	22226517	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03540.hp2 HG02809.hp2 HG03540.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0012 a0003c0004t0005g0013 a0003c0004t0005g0012 a0003c0004t0005g0013	2	102	0.0196	22	c.246 others(37): Show c.246+557_246+558insTTTTTTTTTTTTTTTTTTTTTT	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr16	TogoVar

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