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
ELL2_chr5_95880098_95966851	95927843	G G	GTATATAT others(17): Show GTATATATATACACACACATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG01891.hp1 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0111 a0002c0002t0001g0099 a0002c0002t0001g0111	2	314	0.0064	24	c.196 others(41): Show c.196-8299_196-8298insTATATATGTGTGTGTATATATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02717.hp1 HG03209.hp1 HG02300.hp2 HG02717.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0179 a0001c0001t0001g0218 a0001c0001t0001g0146 a0001c0001t0001g0179 a0001c0001t0001g0218	3	244	0.0123	24	c.870 others(41): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36849025	C C	CTCTTTTT others(17): Show CTCTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	92	0.0109	24	c.65 others(35): Show c.6525_*6526insAAAAAAAAAAAAAAAAAAAAAAGA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding		3880		chr7	TogoVar
ELMO1_chr7_36847906_37453864	36897325	C C	CGTGTGTG others(17): Show CGTGTGTGCGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	92	0.0109	24	c.143 others(43): Show c.1438-2309_1438-2308insACACACACACACACACGCACACAC	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36897336	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01256.hp2 others(21): Show HG00735.hp1 HG01106.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01934.hp2 HG01978.hp2 HG02027.hp2 HG02080.hp1 HG02080.hp2 HG02615.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG03195.hp2 HG03492.hp2 HG03927.hp1 HG06807.hp2 NA18970.hp1 NA19000.hp1 NA19090.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0011 a0001c0004t0002 a0001c0005t0007	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0040 others(21): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0002g0019 a0001c0001t0002g0030 a0001c0001t0002g0067 a0001c0001t0003g0017 a0001c0001t0003g0026 a0001c0001t0003g0044 a0001c0001t0003g0072 a0001c0001t0005g0027 a0001c0001t0009g0055 a0001c0002t0001g0054 a0001c0002t0002g0048 a0001c0002t0002g0087 a0001c0002t0003g0028 a0001c0002t0003g0032 a0001c0002t0003g0037 a0001c0002t0003g0051 a0001c0002t0003g0077 a0001c0002t0005g0056 a0001c0002t0011g0039 a0001c0004t0002g0003 a0001c0005t0007g0016	24	92	0.2609	24	c.143 others(43): Show c.1438-2320_1438-2319insTACACACACACACACACACACACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36899684	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0039 a0001c0002t0011g0039	1	92	0.0109	24	c.143 others(43): Show c.1438-4668_1438-4667insAAAAAAAAAAAAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37161905	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	92	0.0109	24	c.108 others(45): Show c.1087-28695_1087-28672dupATATATATATATATATATATATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37246773	C C	CAGATAGA others(17): Show CAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03195.hp1 HG02886.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0003t0002 a0001c0001t0017 a0001c0003t0002	a0001c0001t0017g0012 a0001c0003t0002g0091 a0001c0001t0017g0012 a0001c0003t0002g0091	2	92	0.0217	24	c.414 others(41): Show c.414-2383_414-2382insATCTATCTATCTATCTATCTATCT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	6/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37417683	C C	CACACACA others(17): Show CACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03453.hp2 HG04228.hp1 HG02818.hp2 HG03453.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0005 a0001c0001t0002g0067 a0001c0002t0002g0049 a0001c0001t0001g0005 a0001c0001t0002g0067 a0001c0002t0002g0049	3	92	0.0326	24	c.-74 others(43): Show c.-74+30991_-74+30992insTTGTGTGTGTGTGTGTGTGTGTGT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	1/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGCGG others(17): Show GGGCGCGGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	312	0.0032	24	c.-47 others(35): Show c.-4772_-4771insACACACACACACACACACCGCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(17): Show GGGGCGGGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG03195.hp2 NA19005.hp2 others(1): Show HG00673.hp2 HG03195.hp2 NA19005.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0040 a0001c0001t0004g0034 a0001c0001t0004g0222 others(1): Show a0001c0001t0003g0040 a0001c0001t0004g0034 a0001c0001t0004g0222 a0001c0001t0004g0232	4	312	0.0128	24	c.-47 others(35): Show c.-4772_-4771insACACACACACACACACACCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGTG others(17): Show GGGGCGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	312	0.0032	24	c.-47 others(35): Show c.-4772_-4771insACACACACACACACACACACGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGGTGTG others(17): Show CGGGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	312	0.0032	24	c.-47 others(35): Show c.-4774_-4773insACACACACACACACACACACACCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411213	T T	TTGTGTGT others(17): Show TTGTGTGTTTGTGTGTGGTGTGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	312	0.0032	24	c.-47 others(35): Show c.-4792_-4791insCACCACACCACACACAAACACACA	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4599		chr20	TogoVar
ELOF1_chr19_11548046_11564230	11552290	G G	GGAGGGTC others(17): Show GGAGGGTCTGGCACTGCCCCAGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0115 a0001c0001t0047g0115	1	412	0.0024	24	c.14 others(35): Show c.1432_*1455dupAACCTGGGGCAGTGCCAGACCCTC	ELOF1	ENSG00000130165.11	transcript	ENST00000252445.8	protein_coding		755		chr19	TogoVar
ELOVL2_chr6_10975759_11049305	10978310	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	380	0.0026	24	c.54 others(35): Show c.5470_*5471insTTATATATATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2448		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043467	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp1 others(14): Show HG00408.hp1 HG00558.hp1 HG00597.hp1 HG02071.hp1 HG03017.hp1 HG03704.hp1 HG03927.hp1 NA18747.hp1 NA18951.hp1 NA18962.hp2 NA18993.hp1 NA18998.hp1 NA19001.hp2 NA19005.hp1 NA19058.hp1 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 others(14): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0011g0099 a0001c0001t0011g0109 a0001c0001t0011g0110 a0001c0001t0011g0112	17	380	0.0447	24	c.3+7 others(35): Show c.3+760_3+761insGTGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084563	G G	GATATATA others(17): Show GATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0143 a0001c0001t0051g0143	1	338	0.0030	24	c.221 others(43): Show c.221+20933_221+20934insAAATATATATATATATATATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084563	G G	GATATATA others(17): Show GATATATATTTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02071.hp2 HG02922.hp1 others(1): Show HG01884.hp1 HG02071.hp2 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0034 a0001c0001t0002 a0001c0001t0021 a0001c0001t0034	a0001c0001t0002g0290 a0001c0001t0021g0018 a0001c0001t0021g0107 others(1): Show a0001c0001t0002g0290 a0001c0001t0021g0018 a0001c0001t0021g0107 a0001c0001t0034g0026	4	338	0.0118	24	c.221 others(43): Show c.221+20933_221+20934insATATATATATATATAAATATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0040 a0001c0001t0018g0040	1	338	0.0030	24	c.90- others(41): Show c.90-12276_90-12275insATATATATATATTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	338	0.0030	24	c.90- others(41): Show c.90-12276_90-12275insATATATATATATATTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA21309.hp1 HG00642.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0270 a0001c0001t0014g0150 a0001c0001t0001g0270 a0001c0001t0014g0150	2	338	0.0059	24	c.90- others(41): Show c.90-12276_90-12275insATATATATATATATATTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	338	0.0030	24	c.90- others(41): Show c.90-12276_90-12275insATATATATATATATATATTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117924	A A	ATATATAT others(17): Show ATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA19080.hp1 HG00639.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0052 a0001c0001t0036 a0001c0001t0052	a0001c0001t0036g0001 a0001c0001t0052g0191 a0001c0001t0036g0001 a0001c0001t0052g0191	2	338	0.0059	24	c.90- others(41): Show c.90-12297_90-12296insGATATATATATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158635	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	338	0.0030	24	c.89+ others(41): Show c.89+39611_89+39612insTATATATATATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158657	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	338	0.0030	24	c.89+ others(41): Show c.89+39589_89+39590insAAAAAAAATATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110201032	T T	TTTATTTT others(17): Show TTTATTTTTTAGAGATGGGGACTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00735.hp2 others(71): Show HG00544.hp1 HG00597.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02523.hp2 HG02809.hp2 HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03942.hp1 HG04115.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19080.hp1 NA19085.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0032 a0001c0001t0033 a0001c0001t0041 a0001c0001t0045 a0001c0001t0048 a0001c0001t0052 a0001c0001t0061 a0001c0001t0064 a0001c0001t0067 a0001c0001t0070 a0001c0001t0071	a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0165 others(71): Show a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0002g0076 a0001c0001t0002g0164 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0003g0084 a0001c0001t0003g0102 a0001c0001t0003g0175 a0001c0001t0003g0188 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0221 a0001c0001t0004g0176 a0001c0001t0004g0190 a0001c0001t0004g0206 a0001c0001t0004g0209 a0001c0001t0004g0212 a0001c0001t0005g0086 a0001c0001t0005g0192 a0001c0001t0005g0197 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0215 a0001c0001t0005g0325 a0001c0001t0006g0088 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0200 a0001c0001t0007g0171 a0001c0001t0008g0082 a0001c0001t0010g0181 a0001c0001t0010g0187 a0001c0001t0012g0054 a0001c0001t0012g0085 a0001c0001t0012g0087 a0001c0001t0012g0184 a0001c0001t0012g0185 a0001c0001t0016g0177 a0001c0001t0017g0170 a0001c0001t0017g0223 a0001c0001t0019g0124 a0001c0001t0020g0101 a0001c0001t0020g0103 a0001c0001t0020g0211 a0001c0001t0023g0166 a0001c0001t0023g0167 a0001c0001t0024g0154 a0001c0001t0032g0163 a0001c0001t0032g0173 a0001c0001t0033g0169 a0001c0001t0041g0119 a0001c0001t0045g0204 a0001c0001t0048g0081 a0001c0001t0052g0191 a0001c0001t0061g0083 a0001c0001t0064g0214 a0001c0001t0067g0055 a0001c0001t0070g0218 a0001c0001t0071g0075	74	338	0.2189	24	c.-26 others(35): Show c.-2698_-2697insCAAGTCCCCATCTCTAAAAAATAA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding		2418		chr4	TogoVar
ELP1_chr9_108862517_108939124	108887865	A A	ATGATACG others(17): Show ATGATACGACCACTGCAGATTAGTT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0279 a0004c0009t0005g0279	1	416	0.0024	24	c.322 others(43): Show c.3222+1466_3222+1467insAACTAATCTGCAGTGGTCGTATCA	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	29/36			chr9	TogoVar
ELP4_chr11_31504767_31795324	31623390	T T	TATATATA others(17): Show TATATATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19240.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0063 a0001c0001t0053 a0001c0001t0063	a0001c0001t0053g0049 a0001c0001t0063g0047 a0001c0001t0053g0049 a0001c0001t0063g0047	2	270	0.0074	24	c.654 others(41): Show c.654-3719_654-3718insTATATATATAAATATATATATAAA	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(17): Show CATGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03704.hp2 HG06807.hp2 others(1): Show HG02056.hp1 HG03704.hp2 HG06807.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0016	a0001c0001t0001g0179 a0001c0001t0002g0175 a0001c0001t0008g0209 others(1): Show a0001c0001t0001g0179 a0001c0001t0002g0175 a0001c0001t0008g0209 a0001c0001t0016g0168	4	270	0.0148	24	c.114 others(45): Show c.1143+18454_1143+18455insATGTGTGTGTGTGTGTGTGTGTGT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9			chr11	TogoVar
ELP4_chr11_31504767_31795324	31731567	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	270	0.0037	24	c.114 others(45): Show c.1144-51815_1144-51792dupGTGTGTGTGTGTGTGTGTGTGTGT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	48023520	G G	GAAGGAAA others(17): Show GAAGGAAAGGGGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0328 a0007c0008t0001g0328	1	388	0.0026	24	c.7+ others(39): Show c.7+1192_*7+1193insAGGGGGAAGGAAGGAAGAAAGGAA	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48023529	G G	GGGGAAGG others(17): Show GGGGAAGGAAGGAAGAAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(211): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0014 a0015 a0016 a0019 a0020	a0001c0001 a0001c0024 a0002c0002 others(11): Show a0001c0001 a0001c0024 a0002c0002 a0003c0003 a0004c0004 a0005c0013 a0005c0014 a0007c0008 a0008c0009 a0014c0018 a0015c0015 a0016c0021 a0019c0022 a0020c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0024t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0005c0013t0001 a0005c0014t0002 a0007c0008t0001 a0008c0009t0001 a0008c0009t0002 a0014c0018t0001 a0014c0018t0002 a0015c0015t0001 a0015c0015t0002 a0016c0021t0002 a0019c0022t0001 a0020c0023t0001	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 others(211): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0183 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0001t0001g0351 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0005g0006 a0001c0001t0005g0067 a0001c0001t0006g0258 a0001c0001t0006g0259 a0001c0001t0007g0301 a0001c0001t0008g0069 a0001c0001t0010g0245 a0001c0001t0011g0239 a0001c0024t0001g0097 a0002c0002t0001g0091 a0002c0002t0001g0282 a0002c0002t0002g0197 a0003c0003t0002g0186 a0003c0003t0002g0244 a0004c0004t0001g0064 a0004c0004t0001g0072 a0004c0004t0001g0304 a0004c0004t0001g0336 a0004c0004t0001g0366 a0004c0004t0002g0125 a0004c0004t0002g0181 a0004c0004t0002g0191 a0004c0004t0002g0252 a0005c0013t0001g0372 a0005c0013t0001g0382 a0005c0014t0002g0136 a0005c0014t0002g0185 a0007c0008t0001g0329 a0007c0008t0001g0347 a0007c0008t0001g0348 a0008c0009t0001g0354 a0008c0009t0002g0153 a0014c0018t0001g0018 a0014c0018t0002g0180 a0015c0015t0001g0277 a0015c0015t0002g0235 a0016c0021t0002g0254 a0019c0022t0001g0270 a0020c0023t0001g0061	214	388	0.5516	24	c.7+ others(39): Show c.7+1195_*7+1196insGGGAAGGAAGGAAGAAAGGAAGGA	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	6/6			chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48029798	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02809.hp2 HG01106.hp2 HG02809.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0002 a0005c0006t0001 a0002c0002t0002 a0005c0006t0001	a0002c0002t0002g0209 a0005c0006t0001g0377 a0002c0002t0002g0209 a0005c0006t0001g0377	2	388	0.0052	24	c.48 others(35): Show c.4854_*4855insAGAGAGAGAGAGAGAGAGAGAGAG	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		4645		chr19	TogoVar
EMC10_chr19_50471507_50495871	50471642	A A	ATATACGC others(17): Show ATATACGCATACATGCACGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00733.hp2 others(56): Show HG00280.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03669.hp1 HG04204.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0003c0011	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(31): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0032 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0077 a0001c0001t0080 a0001c0001t0083 a0001c0001t0102 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0118 a0001c0001t0124 a0001c0001t0167 a0001c0001t0173 a0001c0002t0003 a0001c0007t0127 a0003c0011t0008	a0001c0001t0008g0001 a0001c0001t0009g0001 a0001c0001t0009g0012 others(39): Show a0001c0001t0008g0001 a0001c0001t0009g0001 a0001c0001t0009g0012 a0001c0001t0010g0001 a0001c0001t0010g0026 a0001c0001t0010g0055 a0001c0001t0013g0001 a0001c0001t0014g0001 a0001c0001t0017g0001 a0001c0001t0017g0012 a0001c0001t0020g0001 a0001c0001t0020g0059 a0001c0001t0021g0001 a0001c0001t0022g0001 a0001c0001t0023g0001 a0001c0001t0023g0026 a0001c0001t0026g0057 a0001c0001t0032g0001 a0001c0001t0043g0001 a0001c0001t0043g0012 a0001c0001t0044g0001 a0001c0001t0044g0058 a0001c0001t0045g0001 a0001c0001t0077g0060 a0001c0001t0080g0001 a0001c0001t0083g0001 a0001c0001t0102g0001 a0001c0001t0104g0001 a0001c0001t0105g0001 a0001c0001t0106g0001 a0001c0001t0108g0001 a0001c0001t0109g0001 a0001c0001t0110g0001 a0001c0001t0111g0001 a0001c0001t0112g0001 a0001c0001t0118g0001 a0001c0001t0124g0001 a0001c0001t0167g0001 a0001c0001t0173g0001 a0001c0002t0003g0003 a0001c0007t0127g0001 a0003c0011t0008g0001	59	352	0.1676	24	c.-49 others(35): Show c.-4903_-4902insTATACGCATACATGCACGTGTGTG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4864		chr19	TogoVar
EMC10_chr19_50471507_50495871	50471648	G G	GCATACAT others(17): Show GCATACATGCACGTGTGTGTATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG03704.hp2 HG02602.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0042 a0001c0001t0022 a0001c0001t0042	a0001c0001t0022g0066 a0001c0001t0042g0001 a0001c0001t0022g0066 a0001c0001t0042g0001	2	352	0.0057	24	c.-48 others(35): Show c.-4897_-4896insCATACATGCACGTGTGTGTATACA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4858		chr19	TogoVar
EMC10_chr19_50471507_50495871	50492039	G G	GGAGAGAG others(17): Show GGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0003 a0001c0002t0031g0003	1	352	0.0028	24	c.97 others(35): Show c.9780_*9781insGAGAGAGAGAGAGAGAGAGAGAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1169		chr19	TogoVar
EMC2_chr8_108438624_108494196	108485452	T T	TACATATA others(17): Show TACATATATATAATATATATAGGTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG01255.hp2 others(9): Show HG00738.hp1 HG01074.hp2 HG01255.hp2 HG02004.hp1 HG02027.hp1 HG02735.hp2 HG03225.hp1 HG03654.hp2 HG03688.hp1 HG03942.hp1 HG04115.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0012 a0001c0001t0006g0159 a0001c0001t0006g0171 others(6): Show a0001c0001t0006g0012 a0001c0001t0006g0159 a0001c0001t0006g0171 a0001c0001t0006g0177 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0183 a0001c0001t0019g0029	12	364	0.0330	24	c.808 others(41): Show c.808-1048_808-1025dupATATATATAGGTAACATATATATA	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC3_chr3_9957682_9991841	9963450	G G	GATAGATA others(17): Show GATAGATAGATAGATAGATATAGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0021 a0001c0001t0053g0021	1	322	0.0031	24	c.61 others(33): Show c.618_*619insATCTATATCTATCTATCTATCTAT	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	618		chr3	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(17): Show CACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	410	0.0024	24	c.356 others(41): Show c.356+2088_356+2089insATGTGTGTGTGTGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(17): Show CACACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02040.hp1 HG01255.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0312 a0001c0001t0001g0280 a0001c0001t0001g0312	2	410	0.0049	24	c.356 others(41): Show c.356+2088_356+2089insATATGTGTGTGTGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(17): Show CACACACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02647.hp1 HG03041.hp1 others(13): Show HG00438.hp2 HG02647.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA18906.hp1 NA18941.hp2 NA18951.hp1 NA18955.hp1 NA18988.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0045 a0001c0001t0001g0264 a0001c0001t0001g0269 others(12): Show a0001c0001t0001g0045 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0313 a0001c0002t0001g0048	16	410	0.0390	24	c.356 others(41): Show c.356+2088_356+2089insATATATGTGTGTGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(17): Show CACACACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18612.hp1 NA19081.hp2 HG00423.hp1 NA18612.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0299 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0299	3	410	0.0073	24	c.356 others(41): Show c.356+2088_356+2089insATATATATGTGTGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(17): Show CACACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02280.hp1 HG06807.hp2 HG02080.hp1 HG02280.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0155 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0155	3	410	0.0073	24	c.356 others(41): Show c.356+2088_356+2089insATATATATATGTGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(17): Show CACACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG00099.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0111 a0001c0001t0001g0121	2	410	0.0049	24	c.356 others(41): Show c.356+2088_356+2089insATATATATATATGTGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(17): Show CACACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	410	0.0024	24	c.356 others(41): Show c.356+2088_356+2089insATATATATATATATGTGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(17): Show CACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	410	0.0024	24	c.356 others(41): Show c.356+2088_356+2089insATATATATATATATATGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(17): Show CACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	410	0.0024	24	c.356 others(41): Show c.356+2088_356+2089insATATATATATATATATATGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC9_chr14_24133965_24146591	24135105	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	422	0.0024	24	c.39 others(35): Show c.3904_*3905insGTGTGTGTGTGTGTGTGTGTGTGT	EMC9	ENSG00000100908.14	transcript	ENST00000216799.9	protein_coding		3859		chr14	TogoVar
EMCN_chr4_100390341_100523022	100448795	T T	TTTTCTTT others(17): Show TTTTCTTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG01515.hp2 others(6): Show HG00408.hp1 HG00408.hp2 HG01515.hp2 HG02071.hp1 NA18984.hp1 NA19062.hp2 NA19087.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0010 a0004c0005t0017	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0004g0253 others(6): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0004g0253 a0002c0002t0001g0065 a0002c0002t0001g0075 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0010g0089 a0004c0005t0017g0019	9	262	0.0344	24	c.377 others(41): Show c.377-1225_377-1224insGAAGGAAGGAAGGAAGGAAAGAAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar

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