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
ELOVL7_chr5_60746791_60849269	60819099	G G	GGGAGGGG others(13): Show GGGAGGGGAGGGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18978.hp1 HG04204.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0232 a0001c0001t0024g0217 a0001c0001t0002g0232 a0001c0001t0024g0217	2	258	0.0078	20	c.-85 others(39): Show c.-85-19870_-85-19869insTCTCCTCTCCCCTCCCCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELP2_chr18_36124899_36185557	36163273	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0352 a0002c0002t0003g0352	1	378	0.0027	20	c.176 others(39): Show c.1762-1201_1762-1200insTGTGTGTGTGTGTGTGTGTG	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP2_chr18_36124899_36185557	36163275	G G	GGGGGGTG others(13): Show GGGGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0257 a0001c0001t0039g0257	1	378	0.0027	20	c.176 others(39): Show c.1762-1199_1762-1198insGGGGTGTGTGTGTGTGTGTG	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP2_chr18_36124899_36185557	36163275	G G	GGGGTGTG others(13): Show GGGGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0344 a0002c0002t0007g0344	1	378	0.0027	20	c.176 others(39): Show c.1762-1199_1762-1198insGGTGTGTGTGTGTGTGTGTG	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP2_chr18_36124899_36185557	36163275	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0260 a0001c0001t0011g0260	1	378	0.0027	20	c.176 others(39): Show c.1762-1195_1762-1176dupGTGTGTGTGTGTGTGTGTGT	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP4_chr11_31504767_31795324	31533368	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	270	0.0037	20	c.260 others(37): Show c.260-6286_260-6267dupTTTTTTTTTTTTTTTTTTTT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31623390	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0158 a0001c0001t0007g0158	1	270	0.0037	20	c.654 others(37): Show c.654-3719_654-3718insTATATATATATATATATAAA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31668675	C C	CATGTGTG others(13): Show CATGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02027.hp1 HG02027.hp2 others(14): Show HG01099.hp1 HG02027.hp1 HG02027.hp2 HG02135.hp1 HG02523.hp1 NA18747.hp1 NA18943.hp2 NA18960.hp2 NA18968.hp2 NA18983.hp2 NA18984.hp2 NA19060.hp1 NA19063.hp2 NA19070.hp1 NA19083.hp1 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 a0001c0001t0056	a0001c0001t0001g0135 a0001c0001t0002g0106 a0001c0001t0002g0109 others(14): Show a0001c0001t0001g0135 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0173 a0001c0001t0006g0163 a0001c0001t0008g0208 a0001c0001t0010g0122 a0001c0001t0015g0119 a0001c0001t0023g0121 a0001c0001t0029g0164 a0001c0001t0029g0165 a0001c0001t0031g0125 a0001c0001t0056g0111	17	270	0.0630	20	c.114 others(41): Show c.1143+18454_1143+18455insATGTGTGTGTGTGTGTGTGT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9			chr11	TogoVar
ELP4_chr11_31504767_31795324	31731567	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18906.hp1 HG03130.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0080 a0001c0001t0049 a0001c0001t0080	a0001c0001t0049g0262 a0001c0001t0080g0250 a0001c0001t0049g0262 a0001c0001t0080g0250	2	270	0.0074	20	c.114 others(41): Show c.1144-51811_1144-51792dupGTGTGTGTGTGTGTGTGTGT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	48023284	G G	GGAAGAAA others(13): Show GGAAGAAAGGAAGGAAGGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02895.hp2 HG00738.hp1 HG02895.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0003 a0012c0017t0004 a0012c0017t0003 a0012c0017t0004	a0012c0017t0003g0026 a0012c0017t0004g0124 a0012c0017t0003g0026 a0012c0017t0004g0124	2	388	0.0052	20	c.7+ others(33): Show c.7+952_*7+953insAGAAAGGAAGGAAGGAGAGA	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48029794	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02735.hp1 HG01346.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0287 a0001c0001t0002g0198 a0001c0001t0001g0287 a0001c0001t0002g0198	2	388	0.0052	20	c.48 others(31): Show c.4850_*4851insAGAGAGAGAGAGAGAGAGAG	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		4641		chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48029798	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01891.hp2 HG02683.hp1 others(1): Show HG01192.hp1 HG01891.hp2 HG02683.hp1 HG03579.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0007 a0009c0010 a0001c0001 a0003c0007 a0009c0010	a0001c0001t0001 a0003c0007t0001 a0009c0010t0002 a0001c0001t0001 a0003c0007t0001 a0009c0010t0002	a0001c0001t0001g0071 a0001c0001t0001g0326 a0003c0007t0001g0008 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0326 a0003c0007t0001g0008 a0009c0010t0002g0144	4	388	0.0103	20	c.48 others(31): Show c.4854_*4855insAGAGAGAGAGAGAGAGAGAG	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		4645		chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48029828	G G	GAGAGAGA others(13): Show GAGAGAGAGACAGAGAGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	388	0.0026	20	c.48 others(31): Show c.4884_*4885insAGAGAGAGACAGAGAGAGAC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		4675		chr19	TogoVar
EMB_chr5_50391192_50446288	50419536	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18974.hp2 HG02056.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0148 a0001c0001t0003g0131 a0001c0001t0003g0148	2	346	0.0058	20	c.197 others(37): Show c.197-8154_197-8153insGTGTGTGTGTGTGTGTGTGT	EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding	2/8			chr5	TogoVar
EMB_chr5_50391192_50446288	50432562	T T	TTAAAATA others(13): Show TTAAAATACCTAATTACTAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp2 HG03453.hp2 HG01884.hp2 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0034 a0001c0002t0011g0287 a0001c0002t0011g0034 a0001c0002t0011g0287	3	346	0.0087	20	c.113 others(37): Show c.113-4355_113-4336dupCTTAGTAATTAGGTATTTTA	EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding	1/8			chr5	TogoVar
EMB_chr5_50391192_50446288	50440533	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0279 a0001c0001t0005g0279	1	346	0.0029	20	c.112 others(35): Show c.112+487_112+506dupTTTTTTTTTTTTTTTTTTTT	EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding	1/8			chr5	TogoVar
EMC10_chr19_50471507_50495871	50471642	A A	ATATACGC others(13): Show ATATACGCATACATGCACGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0116 a0001c0002t0116	a0001c0002t0116g0029 a0001c0002t0116g0029	1	352	0.0028	20	c.-49 others(31): Show c.-4903_-4902insTATACGCATACATGCACGTG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4864		chr19	TogoVar
EMC10_chr19_50471507_50495871	50471960	A A	ATGTATAT others(13): Show ATGTATATATACATGTATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02886.hp2 HG01891.hp1 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0023 a0001c0002t0039g0023	2	352	0.0057	20	c.-45 others(31): Show c.-4585_-4584insTGTATATATACATGTATGTG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4546		chr19	TogoVar
EMC10_chr19_50471507_50495871	50472088	A A	ACATGTAT others(13): Show ACATGTATATGTATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	352	0.0028	20	c.-44 others(31): Show c.-4457_-4456insCATGTATATGTATATATACG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4418		chr19	TogoVar
EMC10_chr19_50471507_50495871	50472090	A A	ATGTATAT others(13): Show ATGTATATGTATATACACGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0001 a0001c0001t0021g0001	2	352	0.0057	20	c.-44 others(31): Show c.-4455_-4454insTGTATATGTATATACACGTG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4416		chr19	TogoVar
EMC10_chr19_50471507_50495871	50472090	A A	ATGTATAT others(13): Show ATGTATATGTATATATACGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00733.hp2 others(69): Show HG00280.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02071.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03130.hp2 HG03209.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG06807.hp2 NA18906.hp2 NA18947.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18977.hp2 NA18980.hp2 NA18994.hp1 NA19043.hp1 NA19081.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(40): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0032 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0050 a0001c0001t0084 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0118 a0001c0001t0124 a0001c0001t0167 a0001c0001t0170 a0001c0002t0120 a0001c0006t0127	a0001c0001t0001g0002 a0001c0001t0006g0001 a0001c0001t0008g0001 others(47): Show a0001c0001t0001g0002 a0001c0001t0006g0001 a0001c0001t0008g0001 a0001c0001t0009g0001 a0001c0001t0010g0001 a0001c0001t0010g0026 a0001c0001t0010g0055 a0001c0001t0013g0001 a0001c0001t0014g0001 a0001c0001t0015g0002 a0001c0001t0017g0001 a0001c0001t0017g0012 a0001c0001t0019g0001 a0001c0001t0020g0001 a0001c0001t0020g0059 a0001c0001t0021g0001 a0001c0001t0022g0066 a0001c0001t0023g0001 a0001c0001t0023g0026 a0001c0001t0024g0001 a0001c0001t0026g0057 a0001c0001t0032g0001 a0001c0001t0042g0067 a0001c0001t0043g0001 a0001c0001t0043g0012 a0001c0001t0044g0001 a0001c0001t0044g0058 a0001c0001t0045g0001 a0001c0001t0046g0001 a0001c0001t0050g0002 a0001c0001t0084g0001 a0001c0001t0102g0001 a0001c0001t0103g0001 a0001c0001t0104g0001 a0001c0001t0105g0001 a0001c0001t0106g0001 a0001c0001t0107g0001 a0001c0001t0108g0001 a0001c0001t0109g0001 a0001c0001t0110g0001 a0001c0001t0111g0001 a0001c0001t0112g0001 a0001c0001t0113g0001 a0001c0001t0114g0001 a0001c0001t0118g0001 a0001c0001t0124g0001 a0001c0001t0167g0001 a0001c0001t0170g0046 a0001c0002t0120g0031 a0001c0006t0127g0001	72	352	0.2046	20	c.-44 others(31): Show c.-4455_-4454insTGTATATGTATATATACGTG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4416		chr19	TogoVar
EMC10_chr19_50471507_50495871	50472102	A A	ATATACGT others(13): Show ATATACGTGTGTATATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02886.hp2 HG01891.hp1 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0023 a0001c0002t0039g0023	2	352	0.0057	20	c.-44 others(31): Show c.-4443_-4442insTATACGTGTGTATATGTATG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4404		chr19	TogoVar
EMC2_chr8_108438624_108494196	108456332	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	364	0.0028	20	c.363 others(35): Show c.363+417_363+418insAAAAAAAAAAAAAAAAAAAA	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC2_chr8_108438624_108494196	108462213	T T	TTGTGTGC others(13): Show TTGTGTGCATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03540.hp2 NA19043.hp2 HG02965.hp2 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0007 a0001c0001t0009g0007	3	364	0.0082	20	c.363 others(37): Show c.363+6290_363+6291insATGTGTGTGTGTGTGTGTGC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC2_chr8_108438624_108494196	108462213	T T	TTGTGTGC others(13): Show TTGTGTGCGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(123): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18964.hp2 NA18975.hp1 NA19006.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19070.hp1 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(15): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0002t0003 a0002c0003t0018	a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0018 others(98): Show a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0026 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0182 a0001c0001t0004g0186 a0001c0001t0004g0250 a0001c0001t0005g0031 a0001c0001t0005g0043 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0187 a0001c0001t0005g0275 a0001c0001t0006g0012 a0001c0001t0006g0159 a0001c0001t0006g0171 a0001c0001t0006g0177 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0183 a0001c0001t0007g0020 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0011g0011 a0001c0001t0014g0184 a0001c0001t0014g0185 a0001c0001t0015g0040 a0001c0001t0016g0048 a0001c0001t0016g0049 a0001c0001t0017g0027 a0001c0001t0017g0155 a0001c0001t0018g0055 a0001c0001t0019g0029 a0001c0001t0020g0164 a0001c0001t0022g0045 a0001c0001t0024g0060 a0001c0001t0026g0079 a0001c0002t0003g0083 a0001c0002t0003g0085 a0001c0002t0003g0086 a0002c0003t0018g0056	126	364	0.3462	20	c.363 others(37): Show c.363+6300_363+6301insGTGTGTGTGCGTGTGTGTGT	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC2_chr8_108438624_108494196	108462222	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	364	0.0028	20	c.363 others(37): Show c.363+6300_363+6301insGTGTGTGTGCGCGTGTGTGT	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC2_chr8_108438624_108494196	108462222	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(91): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01192.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02129.hp2 HG02293.hp1 HG02523.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG03017.hp2 HG03239.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18973.hp2 NA18976.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19072.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0013 a0001c0001t0028 others(4): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0003c0004t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 others(70): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0013g0003 a0001c0001t0028g0261 a0001c0001t0029g0003 a0001c0001t0030g0257 a0001c0001t0031g0118 a0003c0004t0002g0135	94	364	0.2582	20	c.363 others(37): Show c.363+6300_363+6301insGTGTGTGTGTGCGTGTGTGT	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC3_chr3_9957682_9991841	9963454	G G	GATAGATA others(13): Show GATAGATAGATAGATATAGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG00735.hp1 others(84): Show HG00609.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18943.hp2 NA18945.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18978.hp2 NA18979.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18999.hp2 NA19004.hp1 NA19006.hp1 NA19056.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19091.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0008 a0001c0001 a0001c0004 a0002c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0027 a0001c0001t0035 a0001c0001t0054 a0001c0001t0057 a0001c0001t0060 a0001c0001t0064 a0001c0001t0067 a0001c0004t0002 a0002c0008t0002	a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(76): Show a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0004g0018 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0009g0035 a0001c0001t0009g0037 a0001c0001t0009g0047 a0001c0001t0009g0051 a0001c0001t0009g0054 a0001c0001t0009g0056 a0001c0001t0009g0248 a0001c0001t0009g0252 a0001c0001t0010g0008 a0001c0001t0010g0022 a0001c0001t0010g0030 a0001c0001t0010g0040 a0001c0001t0010g0045 a0001c0001t0010g0059 a0001c0001t0027g0282 a0001c0001t0027g0288 a0001c0001t0027g0289 a0001c0001t0035g0020 a0001c0001t0054g0044 a0001c0001t0057g0255 a0001c0001t0060g0266 a0001c0001t0064g0270 a0001c0001t0067g0299 a0001c0004t0002g0005 a0002c0008t0002g0265	87	322	0.2702	20	c.61 others(29): Show c.614_*615insATCTATATCTATCTATCTAT	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	614		chr3	TogoVar
EMC7_chr15_34079017_34106862	34092261	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01255.hp1 HG01975.hp1 others(7): Show HG00438.hp1 HG01255.hp1 HG01975.hp1 NA18957.hp2 NA18979.hp2 NA18981.hp2 NA19000.hp1 NA19005.hp1 NA19057.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0090 a0001c0001t0001g0105 others(6): Show a0001c0001t0001g0022 a0001c0001t0001g0090 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0153 a0001c0001t0001g0171 a0001c0001t0001g0312	10	410	0.0244	20	c.357 others(37): Show c.357-1826_357-1807dupTGTGTGTGTGTGTGTGTGTG	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093804	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	410	0.0024	20	c.356 others(37): Show c.356+2090_356+2091insATATATATATATATATATAT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(13): Show CACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG02015.hp2 others(5): Show HG00733.hp2 HG00735.hp2 HG02015.hp2 NA18945.hp1 NA18948.hp2 NA18966.hp1 NA18970.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0042 a0001c0001t0001g0272 a0001c0001t0001g0273 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0314 a0001c0001t0001g0316 a0003c0004t0001g0275	8	410	0.0195	20	c.356 others(37): Show c.356+2088_356+2089insATGTGTGTGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(13): Show CACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18971.hp2 NA18986.hp2 others(2): Show HG03209.hp1 NA18971.hp2 NA18986.hp2 NA19057.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0260 a0001c0001t0001g0261 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0309	5	410	0.0122	20	c.356 others(37): Show c.356+2088_356+2089insATATGTGTGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(13): Show CACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02056.hp1 HG02080.hp2 others(3): Show HG00741.hp1 HG02056.hp1 HG02080.hp2 NA18942.hp2 NA19059.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0259 a0001c0001t0001g0282 others(3): Show a0001c0001t0001g0167 a0001c0001t0001g0259 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0001g0320	6	410	0.0146	20	c.356 others(37): Show c.356+2088_356+2089insATATATGTGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(13): Show CACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00673.hp2 others(24): Show HG00423.hp2 HG00609.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG02056.hp2 HG02074.hp1 HG02155.hp2 HG02451.hp2 HG02735.hp2 HG03239.hp2 HG03486.hp1 HG03710.hp1 HG04199.hp1 NA18957.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA19001.hp1 NA19007.hp2 NA19066.hp2 NA19074.hp2 NA19081.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0027 others(20): Show a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0329	27	410	0.0659	20	c.356 others(37): Show c.356+2088_356+2089insATATATATGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(13): Show CACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00735.hp1 others(42): Show HG00323.hp2 HG00544.hp2 HG00735.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02293.hp2 HG03130.hp1 HG03710.hp2 NA18939.hp2 NA18955.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19012.hp2 NA19055.hp1 NA19057.hp2 NA19076.hp2 NA19080.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 others(32): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0318	45	410	0.1098	20	c.356 others(37): Show c.356+2088_356+2089insATATATATATGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(13): Show CACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	410	0.0024	20	c.356 others(37): Show c.356+2088_356+2089insATATATATATATGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC8_chr16_85773624_85804544	85775442	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02109.hp1 HG02818.hp1 others(1): Show HG01255.hp2 HG02109.hp1 HG02818.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0023 a0001c0001t0031 a0001c0001t0012 a0001c0001t0023 a0001c0001t0031	a0001c0001t0012g0145 a0001c0001t0012g0180 a0001c0001t0023g0079 others(1): Show a0001c0001t0012g0145 a0001c0001t0012g0180 a0001c0001t0023g0079 a0001c0001t0031g0179	4	408	0.0098	20	c.42 others(31): Show c.4246_*4265dupGTGTGTGTGTGTGTGTGTGT	EMC8	ENSG00000131148.9	transcript	ENST00000253457.8	protein_coding		3181		chr16	TogoVar
EMC9_chr14_24133965_24146591	24135105	A A	AACACACA others(13): Show AACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02055.hp1 HG02280.hp1 others(5): Show HG01167.hp2 HG02055.hp1 HG02280.hp1 HG02735.hp1 HG03209.hp1 HG03540.hp1 HG03710.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0001g0007 a0001c0001t0002g0001 a0001c0001t0002g0004	8	422	0.0190	20	c.39 others(31): Show c.3904_*3905insGTGTGTGTGTGTGTGTGTGT	EMC9	ENSG00000100908.14	transcript	ENST00000216799.9	protein_coding		3859		chr14	TogoVar
EMCN_chr4_100390341_100523022	100448795	T T	TTTTCTTT others(13): Show TTTTCTTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG01074.hp2 others(68): Show HG00597.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02300.hp1 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp1 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18955.hp2 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA19001.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0019 a0001c0001t0023 a0002c0002t0001 a0002c0002t0003 a0002c0002t0010 a0002c0002t0014 a0002c0002t0016 a0002c0002t0021 a0002c0002t0024 a0002c0002t0025 a0002c0002t0031 a0003c0003t0004 a0004c0005t0017	a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0196 others(67): Show a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0004g0018 a0001c0001t0004g0250 a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0008g0118 a0001c0001t0013g0009 a0001c0001t0019g0155 a0001c0001t0023g0005 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0108 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0003g0047 a0002c0002t0010g0145 a0002c0002t0010g0148 a0002c0002t0014g0094 a0002c0002t0014g0137 a0002c0002t0016g0111 a0002c0002t0021g0061 a0002c0002t0024g0097 a0002c0002t0025g0057 a0002c0002t0031g0138 a0003c0003t0004g0158 a0004c0005t0017g0020	71	262	0.2710	20	c.377 others(37): Show c.377-1225_377-1224insGAAGGAAGGAAGGAAAGAAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMILIN2_chr18_2842006_2921003	2858555	A A	ATATATAT others(13): Show ATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03453.hp2 HG01891.hp2 HG03453.hp2	a0012 a0015 a0012 a0015	a0012c0051 a0015c0050 a0012c0051 a0015c0050	a0012c0051t0026 a0015c0050t0007 a0012c0051t0026 a0015c0050t0007	a0012c0051t0026g0076 a0015c0050t0007g0077 a0012c0051t0026g0076 a0015c0050t0007g0077	2	452	0.0044	20	c.257 others(39): Show c.257+10631_257+10632insGTGTGTGTGTGTGTATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858569	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0326 a0001c0003t0006g0326	1	452	0.0022	20	c.257 others(39): Show c.257+10639_257+10640insATATATATATATATATATGT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858583	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03540.hp1 NA19240.hp1 HG02630.hp1 HG03540.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0013 a0002c0005 a0003c0010 a0001c0013 a0002c0005 a0003c0010	a0001c0013t0010 a0002c0005t0004 a0003c0010t0010 a0001c0013t0010 a0002c0005t0004 a0003c0010t0010	a0001c0013t0010g0211 a0002c0005t0004g0256 a0003c0010t0010g0262 a0001c0013t0010g0211 a0002c0005t0004g0256 a0003c0010t0010g0262	3	452	0.0066	20	c.257 others(39): Show c.257+10653_257+10654insGTGTGTGTGTATATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858583	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0212 a0001c0001t0040g0212	1	452	0.0022	20	c.257 others(39): Show c.257+10653_257+10654insGTGTGTGTGTGTATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858583	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0210 a0001c0001t0059g0210	1	452	0.0022	20	c.257 others(39): Show c.257+10653_257+10654insGTGTGTGTGTGTGTATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2869786	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0045 a0001c0001t0010g0045	1	452	0.0022	20	c.258 others(39): Show c.258-15170_258-15151dupGTGTGTGTGTGTGTGTGTGT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN3_chr20_41354962_41371818	41365979	C C	CGCTGGGG others(13): Show CGCTGGGGCTCCCATGGGGTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00733.hp2 others(28): Show HG00140.hp1 HG00323.hp1 HG00733.hp2 HG01070.hp1 HG01243.hp2 HG01346.hp2 HG01361.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp1 HG02148.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02622.hp2 HG02735.hp2 HG02895.hp2 HG02897.hp2 HG03209.hp1 HG03225.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG04184.hp1 NA18906.hp2 NA19001.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0012	a0001c0008 a0002c0004 a0004c0005 others(2): Show a0001c0008 a0002c0004 a0004c0005 a0006c0010 a0012c0028	a0001c0008t0009 a0002c0004t0006 a0002c0004t0010 others(5): Show a0001c0008t0009 a0002c0004t0006 a0002c0004t0010 a0002c0004t0011 a0002c0004t0016 a0004c0005t0006 a0006c0010t0006 a0012c0028t0009	a0001c0008t0009g0018 a0002c0004t0006g0011 a0002c0004t0006g0065 others(9): Show a0001c0008t0009g0018 a0002c0004t0006g0011 a0002c0004t0006g0065 a0002c0004t0006g0066 a0002c0004t0010g0017 a0002c0004t0011g0063 a0002c0004t0011g0064 a0002c0004t0016g0069 a0004c0005t0006g0008 a0004c0005t0006g0062 a0006c0010t0006g0021 a0012c0028t0009g0038	31	430	0.0721	20	c.167 others(35): Show c.167+469_167+488dupAACCCCATGGGAGCCCCAGC	EMILIN3	ENSG00000183798.5	transcript	ENST00000332312.4	protein_coding	1/3			chr20	TogoVar
EML1_chr14_99788413_99947060	99796186	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19088.hp2 NA18961.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0003 a0002c0001t0002 a0001c0004t0003 a0002c0001t0002	a0001c0004t0003g0145 a0002c0001t0002g0144 a0001c0004t0003g0145 a0002c0001t0002g0144	2	288	0.0069	20	c.67+ others(35): Show c.67+2669_67+2688dupGAGAGAGAGAGAGAGAGAGA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99838918	C C	CGCGCGCG others(13): Show CGCGCGCGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp1 HG02886.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0080 a0001c0003t0001g0259 a0001c0003t0001g0080 a0001c0003t0001g0259	2	288	0.0069	20	c.68- others(37): Show c.68-11934_68-11933insCGCGCGTGTGTGTGTGTGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99838918	C C	CGCGCGTG others(13): Show CGCGCGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0018 a0002c0001t0002g0018	1	288	0.0035	20	c.68- others(37): Show c.68-11934_68-11933insCGCGTGTGTGTGTGTGTGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99838930	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01884.hp1 HG02602.hp2 others(2): Show HG00438.hp2 HG01884.hp1 HG02602.hp2 HG03654.hp1 NA19066.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0239 a0002c0001t0002g0023 a0002c0001t0002g0084 others(2): Show a0002c0001t0001g0239 a0002c0001t0002g0023 a0002c0001t0002g0084 a0002c0001t0002g0164 a0002c0001t0002g0227	5	288	0.0174	20	c.68- others(37): Show c.68-11922_68-11921insTGTGTGTGTGTGTGTGTGCG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar

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