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
ELMO1_chr7_36847906_37453864	37092366	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	92	0.0109	15	c.130 others(34): Show c.1300+4238_1300+4252dupAAAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	15/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37321716	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02886.hp2 HG03453.hp2 others(2): Show HG01123.hp2 HG02886.hp2 HG03453.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0003 a0001c0003t0002	a0001c0001t0001g0005 a0001c0001t0004g0036 a0001c0001t0006g0004 others(2): Show a0001c0001t0001g0005 a0001c0001t0004g0036 a0001c0001t0006g0004 a0001c0002t0003g0032 a0001c0003t0002g0091	5	92	0.0544	15	c.79- others(30): Show c.79-5771_79-5757dupTTTTTTTTTTTTTTT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	2/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37437979	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0053 a0001c0002t0004g0053	1	92	0.0109	15	c.-74 others(34): Show c.-74+10681_-74+10695dupTTTTTTTTTTTTTTT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	1/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GCGGGTGT others(8): Show GCGGGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	312	0.0032	15	c.-47 others(26): Show c.-4772_-4771insACACACACACACCCG	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGG others(8): Show GGGGGCGGGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	312	0.0032	15	c.-47 others(26): Show c.-4772_-4771insACACACACCCGCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGT others(8): Show GGGGGCGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	312	0.0032	15	c.-47 others(26): Show c.-4772_-4771insACACACACACGCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGG others(8): Show GGGGGGGGGCGGGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	312	0.0032	15	c.-47 others(26): Show c.-4772_-4771insACACCCGCCCCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGG others(8): Show GGGGGGGGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	312	0.0032	15	c.-47 others(26): Show c.-4772_-4771insGCCCCCCCCCCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMOD1_chr11_107586147_107671779	107599755	A A	AAAAAAAG others(8): Show AAAAAAAGAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18949.hp1 NA18989.hp1 HG01934.hp1 NA18949.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0002t0007g0217 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0002t0007g0217	3	342	0.0088	15	c.-86 others(32): Show c.-86+8350_-86+8351insAAGAAAAAAAGAAAA	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELMOD1_chr11_107586147_107671779	107655573	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02056.hp1 HG00735.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0237 a0001c0001t0001g0085 a0001c0001t0001g0237	2	342	0.0059	15	c.699 others(30): Show c.699-359_699-345dupTTTTTTTTTTTTTTT	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELMOD3_chr2_85349769_85396748	85364825	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	386	0.0026	15	c.199 others(32): Show c.199+1660_199+1661insATATATATATATATT	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ELN_chr7_74023173_74074907	74058179	C C	CCTCCTCC others(8): Show CCTCCTCCTCCTTCTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	366	0.0027	15	c.141 others(32): Show c.1414+494_1414+495insTCTTCTCCTCCTCCT	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	22/32		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELOA_chr1_23738471_23767059	23758251	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	400	0.0025	15	c.225 others(34): Show c.2257+1129_2257+1130insTTTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOC_chr8_73940119_73977191	73971032	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	404	0.0025	15	c.-51 others(32): Show c.-51+1030_-51+1044dupTTTTTTTTTTTTTTT	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding	1/3			chr8	TogoVar
ELOC_chr8_73940119_73977191	73975355	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18995.hp1 NA18949.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0246 a0001c0001t0004g0248 a0001c0001t0004g0246 a0001c0001t0004g0248	2	404	0.0050	15	c.-33 others(26): Show c.-3344_-3330dupAAAAAAAAAAAAAAA	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		3165		chr8	TogoVar
ELOC_chr8_73940119_73977191	73976656	C C	CGGGGCGA others(8): Show CGGGGCGAGGGGTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	404	0.0025	15	c.-46 others(26): Show c.-4631_-4630insTTCACCCCTCGCCCC	ELOC	ENSG00000154582.18	transcript	ENST00000520242.6	protein_coding		4466		chr8	TogoVar
ELOVL2_chr6_10975759_11049305	10978304	T T	TATATATA others(8): Show TATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	380	0.0026	15	c.54 others(26): Show c.5476_*5477insTATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2454		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	10978306	T T	TATATATA others(8): Show TATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA19001.hp1 NA18987.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0033 a0001c0001t0003g0316 a0001c0001t0001g0033 a0001c0001t0003g0316	2	380	0.0053	15	c.54 others(26): Show c.5474_*5475insTATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2452		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11029223	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0024 a0006c0006t0024	a0006c0006t0024g0310 a0006c0006t0024g0310	1	380	0.0026	15	c.3+1 others(30): Show c.3+14990_3+15004dupTTTTTTTTTTTTTTT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53304436	C C	CTTTTATT others(8): Show CTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp1 HG02257.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0001t0009g0305 a0001c0001t0009g0306	2	320	0.0063	15	c.-8- others(30): Show c.-8-8744_-8-8730dupTAAAATAAAATAAAA	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53306312	A A	AGGGGAGA others(8): Show AGGGGAGAGGGGAGAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01975.hp2 HG02738.hp1 others(2): Show HG01952.hp1 HG01975.hp2 HG02738.hp1 HG03704.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0217 others(2): Show a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220	5	320	0.0156	15	c.-8- others(32): Show c.-8-10606_-8-10605insCTCTCCCCTCTCCCC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110042850	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00735.hp2 HG01255.hp1 others(24): Show HG00597.hp1 HG00735.hp2 HG01255.hp1 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp1 HG02976.hp1 HG03017.hp1 HG03453.hp2 NA18939.hp1 NA18945.hp1 NA18947.hp1 NA18954.hp1 NA18961.hp2 NA18963.hp1 NA18974.hp1 NA18985.hp2 NA18988.hp2 NA18999.hp1 NA19002.hp1 NA19064.hp1 NA19064.hp2 NA19082.hp2 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0026 a0001c0001t0049 a0001c0001t0069 a0001c0002t0030	a0001c0001t0001g0115 a0001c0001t0002g0065 a0001c0001t0002g0189 others(24): Show a0001c0001t0001g0115 a0001c0001t0002g0065 a0001c0001t0002g0189 a0001c0001t0002g0301 a0001c0001t0003g0094 a0001c0001t0003g0131 a0001c0001t0003g0175 a0001c0001t0003g0205 a0001c0001t0003g0267 a0001c0001t0003g0318 a0001c0001t0005g0197 a0001c0001t0006g0093 a0001c0001t0006g0113 a0001c0001t0006g0120 a0001c0001t0006g0130 a0001c0001t0006g0193 a0001c0001t0006g0222 a0001c0001t0006g0296 a0001c0001t0008g0082 a0001c0001t0010g0187 a0001c0001t0013g0266 a0001c0001t0014g0111 a0001c0001t0016g0177 a0001c0001t0026g0330 a0001c0001t0049g0097 a0001c0001t0069g0228 a0001c0002t0030g0003	27	338	0.0799	15	c.84 others(26): Show c.8487_*8488insTTTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding		2995		chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110044270	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01975.hp2 HG02258.hp1 others(9): Show HG01884.hp1 HG01975.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG03130.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0021 others(4): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0021 a0001c0001t0028 a0001c0001t0073 a0001c0001t0075 a0001c0001t0082	a0001c0001t0007g0079 a0001c0001t0007g0158 a0001c0001t0007g0171 others(9): Show a0001c0001t0007g0079 a0001c0001t0007g0158 a0001c0001t0007g0171 a0001c0001t0007g0257 a0001c0001t0007g0291 a0001c0001t0009g0019 a0001c0001t0009g0021 a0001c0001t0021g0107 a0001c0001t0028g0247 a0001c0001t0073g0126 a0001c0001t0075g0074 a0001c0001t0082g0110	12	338	0.0355	15	c.70 others(26): Show c.7067_*7068insTTTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding		1575		chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110061549	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02257.hp2 HG02280.hp1 others(18): Show HG02071.hp1 HG02257.hp2 HG02280.hp1 HG02717.hp2 HG02922.hp2 HG03017.hp1 HG03195.hp2 HG03540.hp1 HG03540.hp2 HG03831.hp1 NA18961.hp2 NA18963.hp1 NA18968.hp2 NA18971.hp1 NA18985.hp1 NA19004.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19066.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0027 a0001c0001t0044	a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0159 others(18): Show a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0159 a0001c0001t0002g0189 a0001c0001t0002g0244 a0001c0001t0002g0308 a0001c0001t0003g0094 a0001c0001t0003g0205 a0001c0001t0006g0194 a0001c0001t0010g0181 a0001c0001t0010g0269 a0001c0001t0011g0045 a0001c0001t0011g0151 a0001c0001t0014g0025 a0001c0001t0014g0150 a0001c0001t0016g0112 a0001c0001t0016g0114 a0001c0001t0018g0040 a0001c0001t0027g0022 a0001c0001t0027g0254 a0001c0001t0044g0100	21	338	0.0621	15	c.222 others(32): Show c.222-1810_222-1796dupAAAAAAAAAAAAAAA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084588	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0017 a0001c0001t0022g0017	1	338	0.0030	15	c.221 others(34): Show c.221+20908_221+20909insAAATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084589	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18946.hp2 HG03831.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0213 a0001c0001t0002g0308 a0001c0001t0001g0213 a0001c0001t0002g0308	2	338	0.0059	15	c.221 others(34): Show c.221+20907_221+20908insTATATATATATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110097305	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18941.hp1 NA18999.hp2 others(1): Show HG01361.hp2 NA18941.hp1 NA18999.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0031 a0001c0001t0001 a0001c0001t0005 a0001c0001t0031	a0001c0001t0001g0125 a0001c0001t0001g0276 a0001c0001t0005g0092 others(1): Show a0001c0001t0001g0125 a0001c0001t0001g0276 a0001c0001t0005g0092 a0001c0001t0031g0294	4	338	0.0118	15	c.221 others(32): Show c.221+8177_221+8191dupTTTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117899	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01361.hp1 HG01106.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0007 a0001c0001t0001g0008	2	338	0.0059	15	c.90- others(32): Show c.90-12272_90-12271insATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0331 a0001c0001t0004g0331	1	338	0.0030	15	c.90- others(32): Show c.90-12276_90-12275insAATTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0063 a0001c0001t0055g0063	1	338	0.0030	15	c.90- others(32): Show c.90-12276_90-12275insATATATATTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0317 a0001c0001t0010g0317	1	338	0.0030	15	c.90- others(32): Show c.90-12276_90-12275insATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60819020	A A	AGAGGGGA others(8): Show AGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01074.hp2 HG00140.hp2 HG00735.hp1 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0246 a0001c0001t0010g0247 a0001c0001t0010g0248 a0001c0001t0010g0246 a0001c0001t0010g0247 a0001c0001t0010g0248	3	258	0.0116	15	c.-85 others(34): Show c.-85-19805_-85-19791dupCCCTCCCCTCCCCTC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60819099	G G	GGGAGAGG others(8): Show GGGAGAGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	258	0.0039	15	c.-85 others(34): Show c.-85-19884_-85-19870dupTCTCCTCTCCTCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELP1_chr9_108862517_108939124	108900843	A A	ACACACAC others(8): Show ACACACACATACACGC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02129.hp2 HG02809.hp2 others(9): Show HG01261.hp1 HG02129.hp2 HG02809.hp2 HG02886.hp2 NA18946.hp1 NA18961.hp1 NA18971.hp1 NA18973.hp2 NA19002.hp2 NA19006.hp1 NA19057.hp1 NA19085.hp1	a0002 a0016 a0022 a0002 a0016 a0022	a0002c0003 a0016c0024 a0022c0044 a0002c0003 a0016c0024 a0022c0044	a0002c0003t0001 a0002c0003t0007 a0002c0003t0013 others(2): Show a0002c0003t0001 a0002c0003t0007 a0002c0003t0013 a0016c0024t0013 a0022c0044t0013	a0002c0003t0001g0030 a0002c0003t0001g0034 a0002c0003t0001g0035 others(8): Show a0002c0003t0001g0030 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0007g0010 a0002c0003t0007g0111 a0002c0003t0007g0113 a0002c0003t0007g0117 a0002c0003t0007g0120 a0002c0003t0013g0109 a0016c0024t0013g0102 a0022c0044t0013g0110	12	416	0.0289	15	c.201 others(32): Show c.2015-483_2015-469dupGCGTGTATGTGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
ELP4_chr11_31504767_31795324	31533368	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01928.hp2 HG02148.hp1 others(6): Show HG00323.hp2 HG01928.hp2 HG02148.hp1 HG04184.hp1 HG04199.hp2 NA18945.hp2 NA18959.hp1 NA18977.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0042 others(6): Show a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0263 a0001c0001t0004g0017	9	270	0.0333	15	c.260 others(32): Show c.260-6281_260-6267dupTTTTTTTTTTTTTTT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31593227	C C	CTGTTGTT others(8): Show CTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18942.hp2 NA18954.hp2 others(1): Show HG00621.hp1 NA18942.hp2 NA18954.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0001c0001t0057	a0001c0001t0001g0041 a0001c0001t0005g0028 a0001c0001t0018g0031 others(1): Show a0001c0001t0001g0041 a0001c0001t0005g0028 a0001c0001t0018g0031 a0001c0001t0057g0087	4	270	0.0148	15	c.382 others(32): Show c.382-1514_382-1500dupGTTGTTGTTGTTGTT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP6_chr3_47490640_47518712	47514055	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02630.hp2 NA18980.hp1 others(3): Show HG00438.hp1 HG02630.hp2 NA18980.hp1 NA18985.hp2 NA18997.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0054 others(2): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0003g0030	6	374	0.0160	15	c.-46 others(24): Show c.-466_-465insTAATAATAATAATAA	ELP6	ENSG00000163832.16	transcript	ENST00000296149.9	protein_coding		344		chr3	TogoVar
ELSPBP1_chr19_47989632_48030154	48003886	C C	CTTCTATT others(8): Show CTTCTATTCTATTCTA	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA20905.hp2 HG02738.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0364 a0001c0001t0001g0311 a0001c0001t0001g0364	2	388	0.0052	15	c.-17 others(32): Show c.-17-4705_-17-4691dupATTCTATTCTATTCT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48028493	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	388	0.0026	15	c.35 others(26): Show c.3549_*3550insTTTTTTTTTTTTTTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3340		chr19	TogoVar
EMC10_chr19_50471507_50495871	50484018	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0001 a0001c0001t0112g0001	1	352	0.0028	15	c.17 others(26): Show c.1772_*1786dupTTTTTTTTTTTTTTT	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding	7/7	1787	INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC3_chr3_9957682_9991841	9978145	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	322	0.0031	15	c.156 others(30): Show c.156-714_156-700dupTTTTTTTTTTTTTTT	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	1/7			chr3	TogoVar
EMC7_chr15_34079017_34106862	34092293	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	410	0.0024	15	c.357 others(32): Show c.357-1839_357-1838insGTGTGTGTGTGTGTG	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMD_chrX_154374295_154386523	154375871	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 NA18999.hp2 HG03516.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0004 a0001c0001t0001g0001 a0001c0001t0006g0004	2	284	0.0070	15	c.-36 others(26): Show c.-3614_-3613insAAAAAAAAAAAAAAA	EMD	ENSG00000102119.12	transcript	ENST00000369842.9	protein_coding		3423		chrX	TogoVar
EMILIN2_chr18_2842006_2921003	2889128	C C	CTTTCTTT others(8): Show CTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19240.hp2 HG02976.hp1 NA19240.hp2	a0003 a0026 a0003 a0026	a0003c0046 a0026c0045 a0003c0046 a0026c0045	a0003c0046t0051 a0026c0045t0002 a0003c0046t0051 a0026c0045t0002	a0003c0046t0051g0005 a0026c0045t0002g0272 a0003c0046t0051g0005 a0026c0045t0002g0272	2	452	0.0044	15	c.434 others(32): Show c.434-1430_434-1429insCTTTTCTTTTCTTTT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99790865	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02109.hp2 others(3): Show HG01109.hp2 HG02055.hp1 HG02109.hp2 HG02895.hp1 HG02970.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0002 a0001c0003 a0001c0004 a0003c0002	a0001c0003t0001 a0001c0004t0001 a0001c0004t0013 others(1): Show a0001c0003t0001 a0001c0004t0001 a0001c0004t0013 a0003c0002t0001	a0001c0003t0001g0163 a0001c0003t0001g0232 a0001c0003t0001g0233 others(3): Show a0001c0003t0001g0163 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0004t0001g0143 a0001c0004t0013g0108 a0003c0002t0001g0130	6	288	0.0208	15	c.-26 others(26): Show c.-2612_-2611insTTTTTTTTTTTTTTT	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding		2547		chr14	TogoVar
EML1_chr14_99788413_99947060	99927853	T T	TGGGGGTG others(8): Show TGGGGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0050 a0003c0002t0002g0050	1	288	0.0035	15	c.190 others(34): Show c.1909+6978_1909+6979insGGGTGGGGGTGGGGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99927975	G G	GTGGTGGT others(8): Show GTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0242 a0001c0004t0005g0242	1	288	0.0035	15	c.190 others(34): Show c.1909+7113_1909+7127dupATGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928116	G G	GTGGTGAT others(8): Show GTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18906.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0008 a0001c0003t0001g0010	2	288	0.0069	15	c.190 others(34): Show c.1909+7244_1909+7245insATGGTGGTGATGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99935781	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0017 a0001c0004t0004g0017	1	288	0.0035	15	c.191 others(32): Show c.1910-238_1910-224dupAAAAAAAAAAAAAAA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01978.hp1 HG02109.hp1 others(1): Show HG01975.hp2 HG01978.hp1 HG02109.hp1 NA19056.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0003c0003t0004 a0001c0001t0002 a0003c0003t0002 a0003c0003t0004	a0001c0001t0002g0189 a0003c0003t0002g0260 a0003c0003t0002g0294 others(1): Show a0001c0001t0002g0189 a0003c0003t0002g0260 a0003c0003t0002g0294 a0003c0003t0004g0223	4	358	0.0112	15	c.26- others(28): Show c.26-407_26-393dupTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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