Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ELL_chr19_18437663_18527070	18462353	GTGTGTGT others(6): Show GTGTGTGTGTGTTT	G G	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	244	0.0041	-13	c.470 others(28): Show c.470-514_470-502delAAACACACACACA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	4/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18491249	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	244	0.0041	-13	c.136 others(32): Show c.136-18380_136-18368delAAAAAAAAAAAAA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	37092366	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0086 a0001c0004t0002g0086	1	92	0.0109	-13	c.130 others(32): Show c.1300+4240_1300+4252delAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	15/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37303055	CATGCCTG others(6): Show CATGCCTGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp1 HG02109.hp1 others(5): Show HG00741.hp1 HG01192.hp1 HG02109.hp1 HG02559.hp1 HG02895.hp2 HG03098.hp2 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0007t0001	a0001c0001t0001g0074 a0001c0002t0001g0010 a0001c0002t0003g0077 others(5): Show a0001c0001t0001g0074 a0001c0002t0001g0010 a0001c0002t0003g0077 a0001c0002t0004g0053 a0001c0002t0006g0021 a0001c0002t0007g0018 a0001c0002t0009g0069 a0001c0007t0001g0015	8	92	0.0870	-13	c.192 others(32): Show c.192+11782_192+11794delAGGGGGCAGGCAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	4/21			chr7	TogoVar
ELMOD1_chr11_107586147_107671779	107590346	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 NA18947.hp2 HG02056.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0236 a0001c0001t0001g0237	2	342	0.0059	-13	c.-11 others(24): Show c.-1148_-1136delTCTCTCTCTCTCT	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding		800		chr11	TogoVar
ELMOD2_chr4_140519168_140558770	140539655	TTCTTAAA others(6): Show TTCTTAAATCCTCA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18939.hp1 NA18997.hp1 HG02040.hp1 NA18939.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0144 a0001c0001t0004g0149 a0001c0001t0004g0173 a0001c0001t0004g0144 a0001c0001t0004g0149 a0001c0001t0004g0173	3	370	0.0081	-13	c.400 others(28): Show c.400-510_400-498delTTAAATCCTCATC	ELMOD2	ENSG00000179387.10	transcript	ENST00000323570.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ELOA2_chr18_47027527_47040621	47030275	CGCCAGGT others(6): Show CGCCAGGTGGACTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	448	0.0022	-13	c.27 others(24): Show c.2715_*2727delCAGTCCACCTGGC	ELOA2	ENSG00000206181.7	transcript	ENST00000332567.6	protein_coding		2251		chr18	TogoVar
ELOA_chr1_23738471_23767059	23746608	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp1 HG03195.hp1 HG02559.hp1 HG02717.hp1 HG03195.hp1	a0001 a0007 a0001 a0007	a0001c0005 a0001c0013 a0007c0012 a0001c0005 a0001c0013 a0007c0012	a0001c0005t0001 a0001c0013t0018 a0007c0012t0001 a0001c0005t0001 a0001c0013t0018 a0007c0012t0001	a0001c0005t0001g0250 a0001c0013t0018g0205 a0007c0012t0001g0251 a0001c0005t0001g0250 a0001c0013t0018g0205 a0007c0012t0001g0251	3	400	0.0075	-13	c.76- others(28): Show c.76-2402_76-2390delAAAAAAAAAAAAA	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23758251	ATTTATTT others(6): Show ATTTATTTATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18963.hp2 NA19063.hp2 HG03704.hp2 NA18963.hp2 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0215 a0002c0003t0001g0153 a0002c0003t0001g0158 a0001c0001t0001g0215 a0002c0003t0001g0153 a0002c0003t0001g0158	3	400	0.0075	-13	c.225 others(32): Show c.2257+1130_2257+1142delATTTATTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23758259	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	400	0.0025	-13	c.225 others(32): Show c.2257+1153_2257+1165delTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23765206	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02717.hp1 HG03453.hp2 others(1): Show HG02559.hp1 HG02717.hp1 HG03453.hp2 NA19043.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0013 a0003c0004 a0004c0006 others(1): Show a0001c0013 a0003c0004 a0004c0006 a0007c0012	a0001c0013t0018 a0003c0004t0013 a0004c0006t0001 others(1): Show a0001c0013t0018 a0003c0004t0013 a0004c0006t0001 a0007c0012t0001	a0001c0013t0018g0205 a0003c0004t0013g0063 a0004c0006t0001g0018 others(1): Show a0001c0013t0018g0205 a0003c0004t0013g0063 a0004c0006t0001g0018 a0007c0012t0001g0251	4	400	0.0100	-13	c.56 others(24): Show c.5634_*5646delTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding		3148		chr1	TogoVar
ELOVL2_chr6_10975759_11049305	10993857	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG03098.hp2 HG02451.hp1 HG02559.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0006g0210 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0006g0210	3	380	0.0079	-13	c.505 others(30): Show c.505+1137_505+1149delAAAAAAAAAAAAA	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	5/7			chr6	TogoVar
ELOVL3_chr10_102221299_102234589	102224657	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	436	0.0023	-13	c.-18 others(24): Show c.-1891_-1879delTTTTTTTTTTTTT	ELOVL3	ENSG00000119915.5	transcript	ENST00000370005.4	protein_coding		1641		chr10	TogoVar
ELOVL4_chr6_79909814_79952553	79910777	AGGGTCTC others(6): Show AGGGTCTCTTGGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0076	1	354	0.0028	-13	c.58 others(24): Show c.5818_*5830delGCCCAAGAGACCC	ELOVL4	ENSG00000118402.6	transcript	ENST00000369816.5	protein_coding		4036		chr6	TogoVar
ELOVL4_chr6_79909814_79952553	79921459	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp2 HG01256.hp2 others(3): Show HG00099.hp1 HG01070.hp2 HG01256.hp2 HG02647.hp1 HG02717.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0022 a0001c0001t0007 a0001c0001t0022	a0001c0001t0007g0047 a0001c0001t0007g0217 a0001c0001t0007g0218 others(2): Show a0001c0001t0007g0047 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0219 a0001c0001t0022g0154	6	354	0.0170	-13	c.541 others(28): Show c.541+153_541+165delTTTTTTTTTTTTT	ELOVL4	ENSG00000118402.6	transcript	ENST00000369816.5	protein_coding	4/5			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53306244	GGGGAGAG others(6): Show GGGGAGAGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01346.hp1 HG00423.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0212 a0001c0001t0004g0287 a0001c0001t0001g0212 a0001c0001t0004g0287	2	320	0.0063	-13	c.-8- others(30): Show c.-8-10550_-8-10538delTCTCCCCTCTCCC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110044287	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp2 others(28): Show HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG01070.hp2 HG01169.hp1 HG01255.hp1 HG01346.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp1 HG02132.hp1 HG02922.hp1 HG03017.hp1 HG03516.hp1 HG03669.hp1 NA18945.hp1 NA18947.hp2 NA18964.hp2 NA18970.hp1 NA18974.hp2 NA18984.hp2 NA18985.hp1 NA19002.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0034 a0001c0001t0048 a0001c0001t0049 a0001c0001t0056 a0001c0001t0069 a0001c0001t0070	a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0053 others(28): Show a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0084 a0001c0001t0003g0102 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0188 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0221 a0001c0001t0003g0255 a0001c0001t0003g0259 a0001c0001t0003g0267 a0001c0001t0003g0292 a0001c0001t0003g0310 a0001c0001t0003g0313 a0001c0001t0003g0318 a0001c0001t0005g0262 a0001c0001t0010g0181 a0001c0001t0010g0187 a0001c0001t0010g0269 a0001c0001t0010g0322 a0001c0001t0034g0026 a0001c0001t0034g0043 a0001c0001t0048g0081 a0001c0001t0049g0097 a0001c0001t0056g0297 a0001c0001t0069g0228 a0001c0001t0070g0218	31	338	0.0917	-13	c.70 others(24): Show c.7038_*7050delGTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding		1558		chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110171679	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02922.hp1 others(2): Show HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0034 a0001c0001t0050 a0001c0001t0018 a0001c0001t0034 a0001c0001t0050	a0001c0001t0018g0040 a0001c0001t0018g0041 a0001c0001t0018g0042 others(2): Show a0001c0001t0018g0040 a0001c0001t0018g0041 a0001c0001t0018g0042 a0001c0001t0034g0026 a0001c0001t0050g0039	5	338	0.0148	-13	c.89+ others(30): Show c.89+26555_89+26567delAAAAAAAAAAAAA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60800030	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	258	0.0039	-13	c.-85 others(28): Show c.-85-813_-85-801delTTTTTTTTTTTTT	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELP4_chr11_31504767_31795324	31609518	CTCTTTGA others(6): Show CTCTTTGAGGGATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0105 a0001c0001t0083g0105	1	270	0.0037	-13	c.653 others(30): Show c.653+5620_653+5632delGGATATCTTTGAG	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31759686	CTTTTCTT others(6): Show CTTTTCTTTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0044 a0001c0001t0004g0044	1	270	0.0037	-13	c.114 others(34): Show c.1144-23696_1144-23684delCTTTTTTCTTTTT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31779606	GCCTTATT others(6): Show GCCTTATTATGACC	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0131 a0001c0001t0005g0131	1	270	0.0037	-13	c.114 others(32): Show c.1144-3785_1144-3773delCTTATTATGACCC	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
EMC10_chr19_50471507_50495871	50492040	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	-13	c.97 others(24): Show c.9782_*9794delAGAGAGAGAGAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1170		chr19	TogoVar
EMC10_chr19_50471507_50495871	50492050	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0002 a0001c0001t0133g0002	1	352	0.0028	-13	c.97 others(24): Show c.9792_*9804delAGAGAGAGAGAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1180		chr19	TogoVar
EMC10_chr19_50471507_50495871	50492780	GGAGGAGG others(6): Show GGAGGAGGAGGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02895.hp1 others(9): Show HG02109.hp2 HG02559.hp2 HG02895.hp1 HG02896.hp1 HG03225.hp1 HG03225.hp2 NA18747.hp1 NA18943.hp2 NA18977.hp1 NA19066.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0003 a0001c0002t0018 others(8): Show a0001c0001t0006 a0001c0002t0003 a0001c0002t0018 a0001c0002t0054 a0001c0002t0074 a0001c0002t0089 a0001c0002t0090 a0001c0002t0091 a0001c0002t0097 a0001c0002t0101 a0001c0002t0116	a0001c0001t0006g0001 a0001c0002t0003g0003 a0001c0002t0018g0005 others(8): Show a0001c0001t0006g0001 a0001c0002t0003g0003 a0001c0002t0018g0005 a0001c0002t0054g0005 a0001c0002t0074g0027 a0001c0002t0089g0043 a0001c0002t0090g0010 a0001c0002t0091g0010 a0001c0002t0097g0010 a0001c0002t0101g0010 a0001c0002t0116g0029	12	352	0.0341	-13	c.10 others(26): Show c.10522_*10534delGAGGAGGAGGAAA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1910		chr19	TogoVar
EMC1_chr1_19210660_19256524	19250218	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02074.hp1 NA18939.hp1 others(2): Show HG00609.hp2 HG02074.hp1 NA18939.hp1 NA18948.hp2 NA19077.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0002 a0001c0001t0002 a0004c0005t0002	a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 others(1): Show a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0004c0005t0002g0019	5	350	0.0143	-13	c.95+ others(28): Show c.95+1184_95+1196delTTTTTTTTTTTTT	EMC1	ENSG00000127463.16	transcript	ENST00000477853.6	protein_coding	1/22			chr1	TogoVar
EMC2_chr8_108438624_108494196	108467507	CTCAGCTA others(6): Show CTCAGCTAATTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(165): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18973.hp2 NA18975.hp1 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 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0002t0003 a0002c0003t0018 a0003c0004t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 others(126): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 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 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 a0001c0001t0007g0020 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0009g0007 a0001c0001t0009g0053 a0001c0001t0012g0017 a0001c0001t0012g0054 a0001c0001t0013g0003 a0001c0001t0018g0055 a0001c0001t0022g0045 a0001c0001t0024g0060 a0001c0001t0026g0079 a0001c0001t0028g0261 a0001c0001t0029g0003 a0001c0001t0030g0257 a0001c0001t0031g0118 a0001c0002t0003g0083 a0001c0002t0003g0085 a0001c0002t0003g0086 a0002c0003t0018g0056 a0003c0004t0002g0135	168	364	0.4615	-13	c.364 others(30): Show c.364-2317_364-2305delCAGCTAATTTTTT	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC3_chr3_9957682_9991841	9978145	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18991.hp1 NA19004.hp2 others(1): Show NA18988.hp1 NA18991.hp1 NA19004.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0012 a0001c0005t0024 a0001c0001t0003 a0001c0001t0012 a0001c0005t0024	a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0012g0083 others(1): Show a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0012g0083 a0001c0005t0024g0074	4	322	0.0124	-13	c.156 others(28): Show c.156-712_156-700delTTTTTTTTTTTTT	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	1/7			chr3	TogoVar
EMC8_chr16_85773624_85804544	85798114	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18998.hp2 HG01243.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0221 a0001c0001t0002g0222	2	408	0.0049	-13	c.231 others(28): Show c.231+938_231+950delAAAAAAAAAAAAA	EMC8	ENSG00000131148.9	transcript	ENST00000253457.8	protein_coding	1/4			chr16	TogoVar
EMCN_chr4_100390341_100523022	100473365	GTTTTTTT others(6): Show GTTTTTTTGTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02451.hp1 others(9): Show HG01070.hp1 HG01071.hp1 HG02451.hp1 HG02717.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03209.hp2 HG03579.hp1 NA19043.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 others(2): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009 a0002c0002t0016	a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0004g0162 others(9): Show a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0004g0162 a0002c0002t0007g0163 a0002c0002t0007g0164 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0007g0167 a0002c0002t0007g0168 a0002c0002t0009g0171 a0002c0002t0016g0110 a0002c0002t0016g0111	12	262	0.0458	-13	c.259 others(30): Show c.259+1660_259+1672delAAAAACAAAAAAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	3/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100475956	GAGCCACT others(6): Show GAGCCACTGTGCCC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02647.hp1 others(4): Show HG01109.hp2 HG01891.hp2 HG02647.hp1 HG02886.hp2 HG06807.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0131 a0001c0001t0004g0250 others(3): Show a0001c0001t0004g0004 a0001c0001t0004g0131 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253	7	262	0.0267	-13	c.188 others(28): Show c.188-860_188-848delGGGCACAGTGGCT	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	2/11			chr4	TogoVar
EMD_chrX_154374295_154386523	154375871	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02280.hp2 others(9): Show HG01109.hp1 HG01884.hp1 HG02280.hp2 HG02572.hp1 HG02970.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG06807.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	12	284	0.0423	-13	c.-36 others(24): Show c.-3613_-3601delAAAAAAAAAAAAA	EMD	ENSG00000102119.12	transcript	ENST00000369842.9	protein_coding		3423		chrX	TogoVar
EME2_chr16_1767810_1786702	1784082	AGATTGAT others(6): Show AGATTGATAGAAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0035 a0001c0001t0091g0035	1	430	0.0023	-13	c.78 others(24): Show c.7845_*7857delGATTGATAGAAGC	EME2	ENSG00000197774.14	transcript	ENST00000568449.7	protein_coding		2381		chr16	TogoVar
EMID1_chr22_29200896_29264597	29203542	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0269 a0001c0002t0001g0269	1	348	0.0029	-13	c.-24 others(24): Show c.-2496_-2484delAAAAAAAAAAAAA	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding		2353		chr22	TogoVar
EMID1_chr22_29200896_29264597	29250733	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0134 a0002c0001t0001g0134	1	348	0.0029	-13	c.112 others(32): Show c.1120-3447_1120-3435delTTTTTTTTTTTTT	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
EMILIN2_chr18_2842006_2921003	2884786	CTGAGTTA others(6): Show CTGAGTTAGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0016 a0001c0016t0016	a0001c0016t0016g0029 a0001c0016t0016g0029	1	452	0.0022	-13	c.258 others(28): Show c.258-177_258-165delTGAGTTAGGCTGA	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7			chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2889128	CTTTTCTT others(6): Show CTTTTCTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp2 HG03471.hp2 HG02809.hp2 HG03453.hp2 HG03471.hp2	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0001 a0002c0020 a0022c0050 a0001c0001 a0002c0020 a0022c0050	a0001c0001t0059 a0002c0020t0004 a0022c0050t0007 a0001c0001t0059 a0002c0020t0004 a0022c0050t0007	a0001c0001t0059g0210 a0002c0020t0004g0010 a0022c0050t0007g0077 a0001c0001t0059g0210 a0002c0020t0004g0010 a0022c0050t0007g0077	3	452	0.0066	-13	c.434 others(30): Show c.434-1428_434-1416delCTTTTTTTTTTTT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN3_chr20_41354962_41371818	41365284	TGTGTCCC others(6): Show TGTGTCCCTGGGAG	T T	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	430	0.0023	-13	c.168 others(28): Show c.168-140_168-128delCTCCCAGGGACAC	EMILIN3	ENSG00000183798.5	transcript	ENST00000332312.4	protein_coding	1/3			chr20	TogoVar
EML2_chr19_45604400_45644397	45635583	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	382	0.0026	-13	c.180 others(30): Show c.180-1125_180-1113delAAAAAAAAAAAAA	EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding	3/18			chr19	TogoVar
EML4_chr2_42164353_42337548	42173552	TTAAATAA others(6): Show TTAAATAAGTACCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00609.hp1 others(50): Show HG00099.hp2 HG00323.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG01123.hp1 HG01192.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02293.hp2 HG02300.hp2 HG03831.hp1 HG04115.hp1 HG04204.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18954.hp2 NA18961.hp2 NA18962.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18986.hp2 NA18991.hp1 NA19000.hp1 NA19011.hp1 NA19012.hp2 NA19058.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19085.hp2 NA19089.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0009c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0003c0003t0003 a0004c0004t0003 a0009c0013t0003	a0001c0001t0002g0122 a0001c0001t0003g0119 a0001c0001t0003g0121 others(50): Show a0001c0001t0002g0122 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0188 a0001c0001t0003g0355 a0001c0001t0011g0149 a0001c0001t0011g0150 a0001c0001t0011g0185 a0001c0001t0015g0155 a0001c0001t0018g0174 a0003c0003t0003g0186 a0004c0004t0003g0139 a0004c0004t0003g0142 a0004c0004t0003g0143 a0004c0004t0003g0144 a0004c0004t0003g0145 a0009c0013t0003g0154	53	358	0.1480	-13	c.25+ others(28): Show c.25+3918_25+3930delAAATAAGTACCAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42281879	GCACTTCC others(6): Show GCACTTCCTCCCAC	G G	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0350 a0001c0001t0006g0350	1	358	0.0028	-13	c.791 others(28): Show c.791+907_791+919delCACTTCCTCCCAC	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	7/22			chr2	TogoVar
EML5_chr14_88607431_88797953	88625670	GGGATTAT others(6): Show GGGATTATAGGTGT	G G	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0226 a0002c0002t0001g0226	1	332	0.0030	-13	c.474 others(30): Show c.4741-556_4741-544delACACCTATAATCC	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	35/43			chr14	TogoVar
EML5_chr14_88607431_88797953	88728321	TGCACCAG others(6): Show TGCACCAGTTAGAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(96): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02293.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp1 HG03704.hp1 HG03927.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18990.hp2 NA18994.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp2 NA19081.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0009 a0010	a0001c0001 a0002c0002 a0002c0004 others(3): Show a0001c0001 a0002c0002 a0002c0004 a0005c0014 a0009c0012 a0010c0013	a0001c0001t0002 a0001c0001t0017 a0001c0001t0023 others(16): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0021 a0002c0002t0033 a0002c0002t0037 a0002c0002t0038 a0002c0004t0001 a0005c0014t0001 a0009c0012t0001 a0010c0013t0003	a0001c0001t0002g0168 a0001c0001t0017g0010 a0001c0001t0017g0011 others(96): Show a0001c0001t0002g0168 a0001c0001t0017g0010 a0001c0001t0017g0011 a0001c0001t0023g0195 a0001c0001t0023g0197 a0001c0001t0026g0293 a0001c0001t0026g0294 a0001c0001t0027g0295 a0001c0001t0027g0296 a0001c0001t0034g0198 a0001c0001t0035g0196 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0200 a0002c0002t0001g0209 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0291 a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0023 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0031 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0006g0237 a0002c0002t0007g0030 a0002c0002t0021g0273 a0002c0002t0021g0292 a0002c0002t0033g0170 a0002c0002t0037g0262 a0002c0002t0038g0297 a0002c0004t0001g0228 a0002c0004t0001g0234 a0002c0004t0001g0240 a0002c0004t0001g0241 a0002c0004t0001g0242 a0005c0014t0001g0272 a0009c0012t0001g0247 a0010c0013t0003g0022	99	332	0.2982	-13	c.105 others(32): Show c.1050-1656_1050-1644delTTCTAACTGGTGC	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	7/43			chr14	TogoVar
EML6_chr2_54718662_54977025	54789513	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03669.hp2 NA20905.hp1 HG02738.hp1 HG03669.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0004 a0001c0003t0001 a0001c0010t0004 a0001c0001t0004 a0001c0003t0001 a0001c0010t0004	a0001c0001t0004g0259 a0001c0003t0001g0261 a0001c0010t0004g0260 a0001c0001t0004g0259 a0001c0003t0001g0261 a0001c0010t0004g0260	3	264	0.0114	-13	c.198 others(32): Show c.198-23696_198-23684delAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54789536	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0038 a0001c0030t0038	a0001c0030t0038g0074 a0001c0030t0038g0074	1	264	0.0038	-13	c.198 others(32): Show c.198-23690_198-23678delAAAAAAAGAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54806612	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG01361.hp2 others(27): Show HG01069.hp1 HG01243.hp1 HG01361.hp2 HG02027.hp2 HG02132.hp2 HG02135.hp1 HG02258.hp1 HG02486.hp1 HG02647.hp2 HG02698.hp2 HG02970.hp1 HG03017.hp1 HG03704.hp1 HG04115.hp1 NA18612.hp2 NA18950.hp1 NA18955.hp2 NA18963.hp1 NA18969.hp2 NA18971.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19054.hp1 NA19064.hp1 NA19081.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp2 NA20805.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0001c0014 a0001c0023 a0001c0037 a0009c0024	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0049 a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0011 a0001c0003t0015 a0001c0009t0005 a0001c0009t0008 a0001c0012t0045 a0001c0014t0003 a0001c0023t0026 a0001c0037t0015 a0009c0024t0003	a0001c0001t0001g0194 a0001c0001t0003g0105 a0001c0001t0003g0143 others(27): Show a0001c0001t0001g0194 a0001c0001t0003g0105 a0001c0001t0003g0143 a0001c0001t0007g0026 a0001c0001t0008g0112 a0001c0001t0034g0146 a0001c0002t0001g0235 a0001c0002t0003g0114 a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0049g0087 a0001c0003t0002g0062 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0004g0195 a0001c0003t0004g0196 a0001c0003t0004g0197 a0001c0003t0009g0097 a0001c0003t0009g0111 a0001c0003t0009g0122 a0001c0003t0009g0144 a0001c0003t0011g0115 a0001c0003t0015g0109 a0001c0009t0005g0205 a0001c0009t0008g0106 a0001c0012t0045g0233 a0001c0014t0003g0124 a0001c0023t0026g0171 a0001c0037t0015g0113 a0009c0024t0003g0110	30	264	0.1136	-13	c.198 others(30): Show c.198-6600_198-6588delAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP2_chr16_10523422_10585598	10575237	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02683.hp1 NA18969.hp1 others(1): Show HG00558.hp1 HG02683.hp1 NA18969.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0002t0003	a0001c0001t0001g0140 a0001c0001t0004g0122 a0001c0001t0008g0252 others(1): Show a0001c0001t0001g0140 a0001c0001t0004g0122 a0001c0001t0008g0252 a0001c0002t0003g0251	4	402	0.0100	-13	c.-61 others(30): Show c.-61+5299_-61+5311delAAAAAAAAAAAAA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
EMSY_chr11_76440018_76558031	76507853	CTTTTTCT others(6): Show CTTTTTCTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	360	0.0028	-13	c.140 others(32): Show c.1409-5527_1409-5515delCTTTTTCTTTTTT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
EMSY_chr11_76440018_76558031	76517822	GCATACAG others(6): Show GCATACAGTTTAAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0355 a0001c0001t0025g0355	1	360	0.0028	-13	c.172 others(32): Show c.1729+1526_1729+1538delTACAGTTTAAACA	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
EN1_chr2_118837171_118852648	118847726	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG06807.hp2 NA18906.hp1 HG02280.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	442	0.0068	-13	c.-57 others(22): Show c.-572_-560delAAAAAAAAAAAAA	EN1	ENSG00000163064.7	transcript	ENST00000295206.7	protein_coding		79		chr2	TogoVar

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