Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ELP1_chr9_108862517_108939124	108903824	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03669.hp1 HG01070.hp1 HG03669.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0019c0028 a0001c0001 a0019c0028	a0001c0001t0023 a0019c0028t0022 a0001c0001t0023 a0019c0028t0022	a0001c0001t0023g0338 a0019c0028t0022g0300 a0001c0001t0023g0338 a0019c0028t0022g0300	2	416	0.0048	-10	c.164 others(27): Show c.1644-165_1644-156delGTGTGTGTGT		ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	14/36						chr9	TogoVar
ELP2_chr18_36124899_36185557	36131930	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03669.hp2 HG04204.hp2 others(1): Show HG02698.hp1 HG03669.hp2 HG04204.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0004 a0001c0001t0004g0053 a0001c0001t0004g0054	4	378	0.0106	-10	c.139 others(27): Show c.139-1294_139-1285delTTTTTTTTTT		ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP2_chr18_36124899_36185557	36156512	TGAAATGT others(3): Show TGAAATGTTTG	T T	frameshift_variant frameshift_variant	HIGH	NA19055.hp2 NA19055.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0003 a0010c0017t0003	a0010c0017t0003g0337 a0010c0017t0003g0337	1	378	0.0027	-10	c.132 others(19): Show c.1324_1333delAAATGTTTGG	p.Lys others(5): Show p.Lys442fs	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	13/22	1359/8432	1324/2481	442/826		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP2_chr18_36124899_36185557	36166319	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0090 a0012c0011t0090	a0012c0011t0090g0059 a0012c0011t0090g0059	1	378	0.0027	-10	c.195 others(27): Show c.1955-763_1955-754delTTTTTTTTTT		ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	18/21					INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP3_chr8_28088139_28196153	28090478	GGTGGGTG others(3): Show GGTGGGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00639.hp2 others(18): Show HG00140.hp1 HG00280.hp1 HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01516.hp2 HG02129.hp2 HG02145.hp1 HG02615.hp1 HG02698.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp2 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0002g0009 others(15): Show a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0095 a0001c0001t0002g0098	21	398	0.0528	-10	c.-27 others(21): Show c.-2736_-2727delGTGGGTGTGT		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding					2660		chr8	TogoVar
ELP3_chr8_28088139_28196153	28090482	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02970.hp2 NA18906.hp2 HG02055.hp2 HG02970.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232	3	398	0.0075	-10	c.-27 others(21): Show c.-2732_-2723delGTGTGTGTGT		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding					2656		chr8	TogoVar
ELP3_chr8_28088139_28196153	28119572	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG01070.hp2 others(44): Show HG00280.hp2 HG00544.hp2 HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01928.hp1 HG02083.hp1 HG02109.hp1 HG02165.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02895.hp1 HG03041.hp1 HG03195.hp1 HG03225.hp1 HG03491.hp1 HG03704.hp2 HG03942.hp2 NA18522.hp2 NA18947.hp2 NA18956.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18982.hp2 NA18985.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19086.hp2 NA19087.hp2 NA19091.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0009 a0001c0002t0011	a0001c0001t0001g0007 a0001c0001t0001g0165 a0001c0001t0001g0174 others(42): Show a0001c0001t0001g0007 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0309 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0099 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0125 a0001c0001t0003g0321 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0337 a0001c0001t0003g0341 a0001c0001t0003g0355 a0001c0002t0009g0143 a0001c0002t0009g0146 a0001c0002t0009g0147 a0001c0002t0011g0149	47	398	0.1181	-10	c.617 others(27): Show c.617+6447_617+6456delATATATATAT		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP3_chr8_28088139_28196153	28140114	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18954.hp2 NA18970.hp1 others(2): Show HG02056.hp2 NA18954.hp2 NA18970.hp1 NA18999.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0003g0311 others(2): Show a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313	5	398	0.0126	-10	c.110 others(29): Show c.1100+2255_1100+2264delGTGTGTGTGT		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP3_chr8_28088139_28196153	28159834	AACCATTG others(3): Show AACCATTGAAC	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01358.hp2 HG01943.hp2 others(6): Show HG01257.hp1 HG01358.hp2 HG01943.hp2 HG01981.hp1 HG02293.hp1 NA18951.hp1 NA18967.hp2 NA18973.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0239 a0001c0001t0005g0258 a0001c0001t0005g0278 others(6): Show a0001c0001t0005g0239 a0001c0001t0005g0258 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0296 a0001c0001t0005g0301	9	398	0.0226	-10	c.125 others(27): Show c.1258-391_1258-382delATTGAACACC		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP3_chr8_28088139_28196153	28175810	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0306 a0001c0001t0004g0306	1	398	0.0025	-10	c.156 others(31): Show c.1567+13744_1567+13753delTTTTTTTTTT		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP3_chr8_28088139_28196153	28194526	CACACACA others(3): Show CACACACACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02647.hp1 HG02055.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0254 a0001c0001t0006g0257 a0001c0001t0006g0254 a0001c0001t0006g0257	2	398	0.0050	-10	c.48 others(21): Show c.4802_*4811delACACACACAG		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding					3374		chr8	TogoVar
ELP4_chr11_31504767_31795324	31553725	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0256 a0001c0002t0014g0256	1	270	0.0037	-10	c.381 others(29): Show c.381+13973_381+13982delACACACACAC		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31599520	CACAAAAA others(3): Show CACAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02165.hp1 NA18959.hp2 others(1): Show HG02080.hp2 HG02165.hp1 NA18959.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0047 a0001c0001t0001 a0001c0001t0002 a0001c0001t0047	a0001c0001t0001g0174 a0001c0001t0002g0127 a0001c0001t0002g0175 others(1): Show a0001c0001t0001g0174 a0001c0001t0002g0127 a0001c0001t0002g0175 a0001c0001t0047g0176	4	270	0.0148	-10	c.514 others(27): Show c.514-4246_514-4237delCAAAAAAAAA		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31623354	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18987.hp2 NA19060.hp1 others(1): Show NA18954.hp1 NA18987.hp2 NA19060.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0029 a0001c0001t0025 a0001c0001t0029	a0001c0001t0025g0155 a0001c0001t0025g0224 a0001c0001t0029g0164 others(1): Show a0001c0001t0025g0155 a0001c0001t0025g0224 a0001c0001t0029g0164 a0001c0001t0029g0165	4	270	0.0148	-10	c.654 others(27): Show c.654-3728_654-3719delTATATATATA		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31668712	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp2 HG03130.hp2 others(2): Show HG02647.hp1 HG03098.hp2 HG03130.hp2 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0024 a0001c0002t0044 others(1): Show a0001c0002t0014 a0001c0002t0024 a0001c0002t0044 a0001c0002t0045	a0001c0002t0014g0246 a0001c0002t0024g0244 a0001c0002t0024g0248 others(2): Show a0001c0002t0014g0246 a0001c0002t0024g0244 a0001c0002t0024g0248 a0001c0002t0044g0226 a0001c0002t0045g0245	5	270	0.0185	-10	c.114 others(31): Show c.1143+18492_1143+18501delTGTGTGTGTA		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9						chr11	TogoVar
ELP4_chr11_31504767_31795324	31678491	ATGTATGT others(3): Show ATGTATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0223 a0001c0001t0081g0223	1	270	0.0037	-10	c.114 others(31): Show c.1143+28274_1143+28283delATGTGTGTGT		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31678495	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01168.hp2 HG03927.hp1 others(3): Show HG00597.hp1 HG01168.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0022 a0001c0001t0002 a0001c0001t0013 a0001c0001t0022	a0001c0001t0002g0102 a0001c0001t0002g0166 a0001c0001t0002g0177 others(3): Show a0001c0001t0002g0102 a0001c0001t0002g0166 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0013g0154 a0001c0001t0022g0101	6	270	0.0222	-10	c.114 others(31): Show c.1143+28312_1143+28321delGTGTGTGTGT		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31678533	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01884.hp1 HG02738.hp2 others(6): Show HG01175.hp1 HG01884.hp1 HG02738.hp2 HG03492.hp2 HG04184.hp1 NA18522.hp2 NA18991.hp2 NA19030.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0002c0003t0001	a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0263 others(6): Show a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0263 a0001c0001t0004g0044 a0001c0001t0005g0005 a0001c0001t0005g0061 a0001c0001t0007g0072 a0001c0001t0012g0023 a0002c0003t0001g0096	9	270	0.0333	-10	c.114 others(31): Show c.1143+28314_1143+28323delGTGTGTGTAT		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31738232	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0032 a0005c0006t0032	a0005c0006t0032g0253 a0005c0006t0032g0253	1	270	0.0037	-10	c.114 others(31): Show c.1144-45145_1144-45136delAAAAAAAAAA		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31746228	TCAGGAAA others(3): Show TCAGGAAATAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0105 a0001c0001t0083g0105	1	270	0.0037	-10	c.114 others(31): Show c.1144-37160_1144-37151delAAATAACAGG		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31749756	AAAATAAA others(3): Show AAAATAAAACT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18943.hp2 HG01884.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0064 a0001c0001t0010 a0001c0001t0064	a0001c0001t0010g0122 a0001c0001t0064g0239 a0001c0001t0010g0122 a0001c0001t0064g0239	2	270	0.0074	-10	c.114 others(31): Show c.1144-33621_1144-33612delAAACTAAATA		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31794420	CCACACAC others(3): Show CCACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG03453.hp2 others(2): Show HG00280.hp1 HG00323.hp1 HG03453.hp2 HG03927.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0026 a0001c0001t0002 a0001c0001t0013 a0001c0001t0026	a0001c0001t0002g0127 a0001c0001t0002g0152 a0001c0001t0002g0177 others(2): Show a0001c0001t0002g0127 a0001c0001t0002g0152 a0001c0001t0002g0177 a0001c0001t0013g0156 a0001c0001t0026g0252	5	270	0.0185	-10	c.10 others(23): Show c.10897_*10906delCACACACACA		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding					4097		chr11	TogoVar
ELP6_chr3_47490640_47518712	47502415	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	374	0.0027	-10	c.324 others(25): Show c.324-574_324-565delTTTTTTTTTT		ELP6	ENSG00000163832.16	transcript	ENST00000296149.9	protein_coding	4/6						chr3	TogoVar
ELSPBP1_chr19_47989632_48030154	47990118	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02723.hp2 others(4): Show HG01891.hp1 HG01891.hp2 HG02723.hp2 HG03130.hp1 HG03471.hp2 HG03516.hp1 NA19043.hp2	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0018	a0001c0001 a0002c0002 a0011c0010 others(1): Show a0001c0001 a0002c0002 a0011c0010 a0018c0020	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0011c0010t0002 a0018c0020t0001	a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0006g0258 others(4): Show a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0006g0258 a0001c0001t0006g0259 a0002c0002t0001g0004 a0011c0010t0002g0144 a0018c0020t0001g0005	7	388	0.0180	-10	c.-47 others(21): Show c.-4710_-4701delAAAAAAAAAA		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding					4513		chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48003886	CTTCTATT others(3): Show CTTCTATTCTA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(102): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp1 NA18964.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18985.hp1 NA18989.hp1 NA18995.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0006c0014 a0007c0008 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0005c0005t0003 a0005c0005t0004 a0006c0006t0001 a0006c0014t0002 a0007c0008t0001 a0007c0008t0002 a0007c0008t0003 a0008c0009t0002	a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0029 others(102): Show a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0096 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0183 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0280 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0002g0126 a0001c0001t0002g0133 a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0170 a0001c0001t0002g0182 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0215 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0005g0006 a0002c0002t0001g0046 a0002c0002t0001g0054 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0099 a0002c0002t0001g0346 a0002c0002t0001g0373 a0002c0002t0002g0155 a0002c0002t0009g0263 a0003c0003t0001g0103 a0003c0003t0001g0268 a0003c0003t0001g0294 a0003c0003t0001g0383 a0003c0003t0001g0384 a0003c0003t0001g0387 a0003c0003t0002g0166 a0003c0003t0002g0167 a0003c0003t0002g0186 a0003c0003t0002g0230 a0003c0003t0002g0237 a0003c0003t0002g0248 a0004c0004t0001g0041 a0004c0004t0001g0072 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0117 a0004c0004t0001g0343 a0004c0004t0001g0375 a0004c0004t0002g0130 a0004c0004t0002g0184 a0004c0004t0002g0191 a0004c0004t0002g0222 a0005c0005t0003g0009 a0005c0005t0003g0010 a0005c0005t0004g0127 a0006c0006t0001g0002 a0006c0006t0001g0022 a0006c0014t0002g0185 a0007c0008t0001g0328 a0007c0008t0002g0132 a0007c0008t0003g0322 a0007c0008t0003g0374 a0008c0009t0002g0153 a0008c0009t0002g0187	105	388	0.2706	-10	c.-17 others(27): Show c.-17-4700_-17-4691delATTCTATTCT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
EMB_chr5_50391192_50446288	50411667	TACCCTAT others(3): Show TACCCTATAAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(170): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18989.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0004c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0002t0004 a0001c0002t0011 a0002c0003t0002 a0003c0005t0006 a0004c0009t0002	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 others(143): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0126 a0001c0001t0003g0009 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0044 a0001c0001t0003g0115 a0001c0001t0003g0122 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0161 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0187 a0001c0001t0004g0010 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0056 a0001c0001t0004g0061 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0113 a0001c0001t0004g0129 a0001c0001t0004g0160 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0116 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0175 a0001c0001t0007g0018 a0001c0001t0007g0088 a0001c0001t0007g0110 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0127 a0001c0001t0007g0165 a0001c0001t0007g0166 a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0009g0051 a0001c0001t0009g0054 a0001c0001t0009g0071 a0001c0001t0009g0089 a0001c0001t0010g0057 a0001c0001t0010g0058 a0001c0001t0010g0059 a0001c0001t0012g0052 a0001c0001t0012g0053 a0001c0001t0013g0076 a0001c0001t0013g0132 a0001c0001t0014g0073 a0001c0001t0014g0079 a0001c0001t0016g0074 a0001c0001t0025g0142 a0001c0001t0026g0136 a0001c0001t0028g0144 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0284 a0001c0002t0004g0285 a0001c0002t0004g0286 a0001c0002t0004g0288 a0001c0002t0004g0289 a0001c0002t0004g0290 a0001c0002t0004g0291 a0001c0002t0004g0292 a0001c0002t0004g0293 a0001c0002t0011g0034 a0001c0002t0011g0287 a0002c0003t0002g0086 a0002c0003t0002g0087 a0003c0005t0006g0037 a0004c0009t0002g0069	173	346	0.5000	-10	c.197 others(25): Show c.197-294_197-285delGTTATAGGGT		EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding	2/8						chr5	TogoVar
EMB_chr5_50391192_50446288	50429968	TTCTCTCT others(3): Show TTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01261.hp1 others(16): Show HG00099.hp2 HG01069.hp2 HG01261.hp1 HG01891.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02717.hp1 HG03195.hp2 HG03239.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp1 NA18961.hp1 NA19068.hp2 NA19085.hp1 NA20129.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0026	a0001c0001t0001g0190 a0001c0001t0001g0212 a0001c0001t0002g0112 others(15): Show a0001c0001t0001g0190 a0001c0001t0001g0212 a0001c0001t0002g0112 a0001c0001t0003g0122 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0151 a0001c0001t0004g0010 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0160 a0001c0001t0026g0136	19	346	0.0549	-10	c.113 others(27): Show c.113-1751_113-1742delGAGAGAGAGA		EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding	1/8						chr5	TogoVar
EMB_chr5_50391192_50446288	50440533	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	346	0.0029	-10	c.112 others(25): Show c.112+497_112+506delTTTTTTTTTT		EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding	1/8						chr5	TogoVar
EMC10_chr19_50471507_50495871	50484018	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0163 a0001c0002t0163	a0001c0002t0163g0005 a0001c0002t0163g0005	1	352	0.0028	-10	c.17 others(21): Show c.1777_*1786delTTTTTTTTTT		EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding	7/7				1777	INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC10_chr19_50471507_50495871	50486423	CAAGCGAT others(3): Show CAAGCGATCCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0130 a0003c0008t0130	a0003c0008t0130g0040 a0003c0008t0130g0040	1	352	0.0028	-10	c.41 others(21): Show c.4165_*4174delAAGCGATCCA		EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding	7/7				4165		chr19	TogoVar
EMC10_chr19_50471507_50495871	50492039	GGAGAGAG others(3): Show GGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01175.hp1 others(9): Show HG00642.hp1 HG00735.hp1 HG01175.hp1 HG01346.hp2 HG01978.hp2 HG02074.hp2 HG02148.hp2 HG02293.hp1 HG02602.hp2 HG03209.hp1 NA18980.hp1 NA19068.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0004 a0001c0001 a0001c0002 a0005c0004	a0001c0001t0105 a0001c0002t0002 a0001c0002t0003 others(4): Show a0001c0001t0105 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0064 a0001c0002t0152 a0005c0004t0096	a0001c0001t0105g0001 a0001c0002t0002g0008 a0001c0002t0002g0009 others(6): Show a0001c0001t0105g0001 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0012g0036 a0001c0002t0064g0004 a0001c0002t0152g0035 a0005c0004t0096g0007	12	352	0.0341	-10	c.97 others(21): Show c.9781_*9790delGAGAGAGAGA		EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding					1169		chr19	TogoVar
EMC2_chr8_108438624_108494196	108446490	TCTTCGAA others(3): Show TCTTCGAAATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0053 a0001c0001t0009g0053	1	364	0.0028	-10	c.40+ others(25): Show c.40+2807_40+2816delGAAATACTTC		EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC3_chr3_9957682_9991841	9972462	GAAAAAAA others(3): Show GAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	322	0.0031	-10	c.494 others(27): Show c.494+1156_494+1165delTTTTTTTTTT		EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	5/7						chr3	TogoVar
EMC3_chr3_9957682_9991841	9978145	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp1 HG01192.hp1 others(27): Show HG01069.hp1 HG01175.hp1 HG01192.hp1 HG01884.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03688.hp2 HG06807.hp1 NA18967.hp1 NA18989.hp2 NA19043.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0040 a0001c0001t0051	a0001c0001t0001g0142 a0001c0001t0001g0237 a0001c0001t0002g0246 others(25): Show a0001c0001t0001g0142 a0001c0001t0001g0237 a0001c0001t0002g0246 a0001c0001t0003g0140 a0001c0001t0005g0002 a0001c0001t0005g0100 a0001c0001t0005g0130 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0137 a0001c0001t0005g0223 a0001c0001t0005g0230 a0001c0001t0007g0122 a0001c0001t0007g0132 a0001c0001t0007g0141 a0001c0001t0007g0143 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0013g0136 a0001c0001t0013g0139 a0001c0001t0020g0072 a0001c0001t0020g0079 a0001c0001t0027g0289 a0001c0001t0028g0133 a0001c0001t0028g0138 a0001c0001t0030g0131 a0001c0001t0040g0231 a0001c0001t0051g0240	30	322	0.0932	-10	c.156 others(25): Show c.156-709_156-700delTTTTTTTTTT		EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	1/7						chr3	TogoVar
EMC8_chr16_85773624_85804544	85780073	GAATTCTG others(3): Show GAATTCTGAGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02647.hp1 HG02723.hp1 others(4): Show HG01167.hp2 HG02647.hp1 HG02723.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0022 a0001c0001t0024 a0001c0001t0010 a0001c0001t0022 a0001c0001t0024	a0001c0001t0010g0032 a0001c0001t0010g0056 a0001c0001t0010g0058 others(3): Show a0001c0001t0010g0032 a0001c0001t0010g0056 a0001c0001t0010g0058 a0001c0001t0022g0183 a0001c0001t0022g0220 a0001c0001t0024g0057	7	408	0.0172	-10	c.474 others(25): Show c.474-216_474-207delTCTCAGAATT		EMC8	ENSG00000131148.9	transcript	ENST00000253457.8	protein_coding	4/4						chr16	TogoVar
EMC8_chr16_85773624_85804544	85789815	GTCTTTTA others(3): Show GTCTTTTATAC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG02886.hp1 others(7): Show HG02280.hp2 HG02622.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03453.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0054 a0001c0001t0005g0055 others(2): Show a0001c0001t0005g0016 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0228 a0001c0001t0005g0229	10	408	0.0245	-10	c.232 others(25): Show c.232-775_232-766delGTATAAAAGA		EMC8	ENSG00000131148.9	transcript	ENST00000253457.8	protein_coding	1/4						chr16	TogoVar
EMCN_chr4_100390341_100523022	100414348	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	262	0.0038	-10	c.751 others(27): Show c.751+1540_751+1549delAAAAAAAAAA		EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	10/11						chr4	TogoVar
EMCN_chr4_100390341_100523022	100459168	GCTCTCTC others(3): Show GCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02572.hp2 HG02965.hp1 others(3): Show HG01192.hp1 HG02572.hp2 HG02965.hp1 HG06807.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0002g0181 a0001c0001t0003g0207 a0001c0001t0003g0210 others(3): Show a0001c0001t0002g0181 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0004g0131 a0001c0001t0009g0121 a0001c0001t0009g0153	6	262	0.0229	-10	c.376 others(27): Show c.376+6245_376+6254delAGAGAGAGAG		EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11						chr4	TogoVar
EMCN_chr4_100390341_100523022	100473365	GTTTTTTT others(3): Show GTTTTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0175 a0001c0001t0028g0175	1	262	0.0038	-10	c.259 others(27): Show c.259+1663_259+1672delAACAAAAAAA		EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	3/11						chr4	TogoVar
EMCN_chr4_100390341_100523022	100475658	CCTTTTTT others(3): Show CCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01891.hp2 others(15): Show HG00735.hp2 HG01109.hp2 HG01891.hp2 HG02145.hp1 HG02257.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03453.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0019 a0001c0004t0004 a0002c0002t0016 a0002c0006t0004	a0001c0001t0002g0035 a0001c0001t0002g0122 a0001c0001t0004g0004 others(14): Show a0001c0001t0002g0035 a0001c0001t0002g0122 a0001c0001t0004g0004 a0001c0001t0004g0131 a0001c0001t0004g0154 a0001c0001t0004g0156 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0015g0022 a0001c0001t0015g0115 a0001c0001t0019g0155 a0001c0004t0004g0249 a0002c0002t0016g0110 a0002c0002t0016g0111 a0002c0006t0004g0048	18	262	0.0687	-10	c.188 others(25): Show c.188-559_188-550delAAAAAAAAAG		EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	2/11						chr4	TogoVar
EMD_chrX_154374295_154386523	154375871	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	284	0.0035	-10	c.-36 others(21): Show c.-3613_-3604delAAAAAAAAAA		EMD	ENSG00000102119.12	transcript	ENST00000369842.9	protein_coding					3423		chrX	TogoVar
EMID1_chr22_29200896_29264597	29221066	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(27): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG01081.hp2 HG01109.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG02004.hp2 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02738.hp1 HG03195.hp2 HG03209.hp1 HG03490.hp1 HG03516.hp2 HG03654.hp2 NA18906.hp1 NA18944.hp1 NA18954.hp1 NA18957.hp1 NA18981.hp1 NA18981.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0008 a0002c0001 others(2): Show a0001c0002 a0001c0008 a0002c0001 a0002c0005 a0004c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0008t0002 a0002c0001t0001 a0002c0001t0002 a0002c0005t0001 a0004c0004t0001 a0004c0004t0002	a0001c0002t0001g0052 a0001c0002t0001g0301 a0001c0002t0001g0302 others(27): Show a0001c0002t0001g0052 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0305 a0001c0002t0001g0313 a0001c0002t0002g0043 a0001c0002t0002g0227 a0001c0002t0002g0291 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0003g0055 a0001c0008t0002g0047 a0002c0001t0001g0006 a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0056 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0165 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0294 a0002c0001t0002g0053 a0002c0001t0002g0054 a0002c0001t0002g0295 a0002c0005t0001g0278 a0004c0004t0001g0057 a0004c0004t0002g0119	30	348	0.0862	-10	c.320 others(27): Show c.320-4018_320-4009delGTGTGTGTGT		EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr22	TogoVar
EMILIN1_chr2_27073615_27091403	27086721	CCGGGGCG others(3): Show CCGGGGCGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02257.hp1 HG02572.hp1 others(3): Show HG00639.hp1 HG02257.hp1 HG02572.hp1 HG02615.hp2 HG02809.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	6	316	0.0190	-10	c.70 others(19): Show c.707_*716delCGGGGCGGGG		EMILIN1	ENSG00000138080.14	transcript	ENST00000380320.9	protein_coding					319		chr2	TogoVar
EMILIN2_chr18_2842006_2921003	2843220	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01346.hp2 HG02280.hp1 others(3): Show HG00738.hp2 HG01346.hp2 HG02280.hp1 HG04204.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0008t0001 a0001c0008t0002	a0001c0001t0001g0446 a0001c0001t0005g0445 a0001c0001t0005g0447 others(3): Show a0001c0001t0001g0446 a0001c0001t0005g0445 a0001c0001t0005g0447 a0001c0003t0001g0291 a0001c0008t0001g0448 a0001c0008t0002g0138	6	452	0.0133	-10	c.-39 others(21): Show c.-3968_-3959delAAAAAAAAAA		EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding					3785		chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2852170	ATGCATGT others(3): Show ATGCATGTGCC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0024 a0024	a0024c0028 a0024c0028	a0024c0028t0007 a0024c0028t0007	a0024c0028t0007g0024 a0024c0028t0007g0024	1	452	0.0022	-10	c.257 others(27): Show c.257+4250_257+4259delTGCATGTGCC		EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858522	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02055.hp2 others(1): Show HG01167.hp2 HG01169.hp1 HG02055.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0012 a0001c0001 a0003c0012	a0001c0001t0016 a0001c0001t0020 a0003c0012t0058 a0001c0001t0016 a0001c0001t0020 a0003c0012t0058	a0001c0001t0016g0344 a0001c0001t0020g0026 a0001c0001t0020g0027 others(1): Show a0001c0001t0016g0344 a0001c0001t0020g0026 a0001c0001t0020g0027 a0003c0012t0058g0343	4	452	0.0089	-10	c.257 others(29): Show c.257+10630_257+10639delATATATATAT		EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858561	ATATATAT others(3): Show ATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA20752.hp2 HG01361.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0294 a0001c0001t0005g0413 a0001c0001t0001g0294 a0001c0001t0005g0413	2	452	0.0044	-10	c.257 others(29): Show c.257+10632_257+10641delATATATATGT		EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2869776	GTGTGTGT others(3): Show GTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02486.hp1 others(8): Show HG01884.hp1 HG02109.hp1 HG02486.hp1 HG02895.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0005 others(1): Show a0001c0001 a0001c0004 a0002c0005 a0003c0010	a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 others(5): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0038 a0001c0001t0040 a0001c0004t0018 a0002c0005t0004 a0003c0010t0010	a0001c0001t0005g0257 a0001c0001t0007g0057 a0001c0001t0015g0213 others(7): Show a0001c0001t0005g0257 a0001c0001t0007g0057 a0001c0001t0015g0213 a0001c0001t0038g0214 a0001c0001t0040g0212 a0001c0001t0040g0374 a0001c0004t0018g0004 a0001c0004t0018g0261 a0002c0005t0004g0256 a0003c0010t0010g0262	11	452	0.0243	-10	c.258 others(29): Show c.258-15178_258-15169delTTGTGTGTGT		EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2905775	GTTTTTTT others(3): Show GTTTTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0011 a0011	a0011c0054 a0011c0054	a0011c0054t0026 a0011c0054t0026	a0011c0054t0026g0037 a0011c0054t0026g0037	1	452	0.0022	-10	c.236 others(28): Show c.2360-1000_2360-991delGTTTTTTTTT		EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99796186	CAGAGAGA others(3): Show CAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01071.hp2 HG01074.hp1 others(1): Show HG00140.hp2 HG01071.hp2 HG01074.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0001 a0001c0003 a0001c0004 a0002c0001	a0001c0003t0003 a0001c0004t0003 a0002c0001t0002 a0001c0003t0003 a0001c0004t0003 a0002c0001t0002	a0001c0003t0003g0277 a0001c0003t0003g0279 a0001c0004t0003g0280 others(1): Show a0001c0003t0003g0277 a0001c0003t0003g0279 a0001c0004t0003g0280 a0002c0001t0002g0278	4	288	0.0139	-10	c.67+ others(25): Show c.67+2679_67+2688delGAGAGAGAGA		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr14	TogoVar

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