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
DPP6_chr7_154047398_154899285	154794811	T T	TGGGCCCC others(40): Show TGGGCCCCCCCACCCCCACCCCCACCCCCACCCCACGCTGCTCCATCA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG01071.hp1 others(13): Show HG00558.hp1 HG00673.hp2 HG01071.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp2 HG02129.hp1 HG02129.hp2 HG02486.hp2 HG02965.hp2 HG03579.hp1 HG03579.hp2 NA18747.hp1 NA19043.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(11): Show a0001c0001 a0001c0006 a0001c0007 a0001c0017 a0001c0018 a0001c0025 a0001c0027 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0002c0009 a0002c0012 a0002c0014	a0001c0001t0005 a0001c0001t0016 a0001c0006t0003 others(13): Show a0001c0001t0005 a0001c0001t0016 a0001c0006t0003 a0001c0007t0005 a0001c0007t0019 a0001c0017t0020 a0001c0018t0009 a0001c0025t0001 a0001c0027t0027 a0002c0002t0022 a0002c0004t0006 a0002c0005t0015 a0002c0008t0012 a0002c0009t0004 a0002c0012t0021 a0002c0014t0025	a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0006t0003g0014 others(13): Show a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0006t0003g0014 a0001c0007t0005g0038 a0001c0007t0019g0037 a0001c0017t0020g0033 a0001c0018t0009g0023 a0001c0025t0001g0018 a0001c0027t0027g0007 a0002c0002t0022g0030 a0002c0004t0006g0028 a0002c0005t0015g0011 a0002c0008t0012g0001 a0002c0009t0004g0004 a0002c0012t0021g0035 a0002c0014t0025g0029	16	33	0.4848	47	c.126 others(64): Show c.1260+617_1260+618insCCACCCCCACCCCCACCCCCACCCCACG CTGCTCCATCAGGGCCCCC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPY19L2_chr12_63553913_63673493	63592006	G G	GAGGGGAG others(40): Show GAGGGGAGGGGAGGGGAGGGGTAGGGGAGGGGAGGGGAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0014 a0004c0008t0014	a0004c0008t0014g0297 a0004c0008t0014g0297	1	330	0.0030	47	c.158 others(66): Show c.1580+2080_1580+2081insACCCCTCCCCTCCCCTCCCCTCCCCT ACCCCTCCCCTCCCCTCCCCT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	16/21			chr12	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAAAAAT others(40): Show AAAAAAATATATATATATATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	259	0.0039	47	c.342 others(64): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATATATATATATTTTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATATGCGCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	112	0.0089	47	c.342 others(64): Show c.3420-522_3420-521insGGCGCATATATATATATATATATATATA TATATATATATATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DUSP8_chr11_1549051_1577271	1550931	T T	TCACACCC others(40): Show TCACACCCATCACACCCCACCACCACCCCACACCATCATCCACTACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	365	0.0027	47	c.55 others(58): Show c.5586_*5587insTGGTAGTGGATGATGGTGTGGGGTGGTGGTGGGG TGTGATGGGTGTG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		3119		chr11	TogoVar
DUXA_chr19_57149021_57172485	57172002	C C	CGAGGGGG others(40): Show CGAGGGGGGCGGGGGCCGCGAGGGGGGCGGGGGCCGCGAGGGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02965.hp2 HG01192.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0015 a0001c0003t0002g0118 a0001c0001t0001g0015 a0001c0003t0002g0118	2	359	0.0056	47	c.-45 others(58): Show c.-4560_-4559insCCGCCCCCCTCGCGGCCCCCGCCCCCCTCGCGGC CCCCGCCCCCCTC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4518		chr19	TogoVar
DVL1_chr1_1330278_1354418	1351320	C C	CCGGGCAG others(40): Show CCGGGCAGGAGCGACGGGGGGGAGGGTGAGGGAGGGGGGGCCTGGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	340	0.0029	47	c.-22 others(58): Show c.-2256_-2255insCGTCCAGGCCCCCCCTCCCTCACCCTCCCCCCCG TCGCTCCTGCCCG	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1903		chr1	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	185	0.0054	47	c.75 others(56): Show c.757_*758insAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
EBF2_chr8_25836725_26050413	26035111	A A	AAAAGGGT others(40): Show AAAAGGGTAGTAGTGATGGGGAGGGGGCTGGCTGGATGGGAGAGTCTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0005 a0001c0004t0010g0005	1	218	0.0046	47	c.483 others(64): Show c.483-1959_483-1958insCAGACTCTCCCATCCAGCCAGCCCCCTC CCCATCACTACTACCCTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	5/15			chr8	TogoVar
ECHS1_chr10_133357485_133378354	133366779	G G	GGGTTTCT others(40): Show GGGTTTCTGTGGGGCTCCCGCGAGGGGGACACCTAGATGCCGCCCTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp1 HG02895.hp2 others(3): Show HG00733.hp2 HG01261.hp1 HG02895.hp2 HG02897.hp2 HG03209.hp2 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0009 a0003c0004t0002g0037 a0003c0004t0002g0009 a0003c0004t0002g0037	6	352	0.0170	47	c.619 others(62): Show c.619+109_619+110insACAGGGCGGCATCTAGGTGTCCCCCTCGCG GGAGCCCCACAGAAACC	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding	5/7			chr10	TogoVar
ECHS1_chr10_133357485_133378354	133366822	C C	CCTGTGGT others(40): Show CCTGTGGTTTCTGTGGGGCTCCCACGAGGGGGACACCTGGATGCAGCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03540.hp1 HG02615.hp1 HG03540.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0037 a0003c0004t0002g0162 a0003c0004t0002g0037 a0003c0004t0002g0162	2	345	0.0058	47	c.619 others(60): Show c.619+66_619+67insAGCTGCATCCAGGTGTCCCCCTCGTGGGAGCC CCACAGAAACCACAG	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding	5/7			chr10	TogoVar
EEFSEC_chr3_128148481_128413646	128150907	A A	ATTCTATA others(40): Show ATTCTATATATTATATATATAATATATTCTATATATTATATATATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	269	0.0037	47	c.-26 others(58): Show c.-2601_-2600insTTCTATATATTATATATATAATATATTCTATATA TTATATATATTAT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		2573		chr3	TogoVar
EGFR_chr7_55014017_55216628	55167328	G G	GTGGTGAG others(40): Show GTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03486.hp1 HG02486.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0028 a0001c0013t0024 a0001c0001t0028 a0001c0013t0024	a0001c0001t0028g0144 a0001c0013t0024g0123 a0001c0001t0028g0144 a0001c0013t0024g0123	2	248	0.0081	47	c.188 others(66): Show c.1880+1897_1880+1943dupAGGAGGTGGGAGTCACAATGGTGGTG GTGTTGATGGTGGTGATGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137809872	C C	CGTAGGTG others(40): Show CGTAGGTGATGGGTCCCGAGGCGGTTCCGATGCTGCCCCTCGTGGACT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG01891.hp2 others(31): Show HG01109.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0006 a0001c0007 others(4): Show a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0018 a0001c0020 a0003c0024	a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 others(4): Show a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0018t0001 a0001c0020t0003 a0003c0024t0001	a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 others(31): Show a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0078 a0001c0003t0001g0084 a0001c0003t0001g0089 a0001c0003t0001g0096 a0001c0003t0001g0103 a0001c0003t0001g0106 a0001c0003t0001g0121 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0006t0001g0146 a0001c0006t0001g0147 a0001c0006t0001g0148 a0001c0006t0001g0152 a0001c0006t0001g0154 a0001c0006t0001g0155 a0001c0006t0001g0159 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0007t0001g0052 a0001c0007t0001g0053 a0001c0007t0001g0054 a0001c0007t0001g0055 a0001c0007t0001g0082 a0001c0008t0001g0150 a0001c0008t0001g0156 a0001c0008t0001g0158 a0001c0018t0001g0062 a0001c0020t0003g0149 a0003c0024t0001g0074	34	168	0.2024	47	c.271 others(66): Show c.2713-1587_2713-1586insAGGTGATGGGTCCCGAGGCGGTTCCG ATGCTGCCCCTCGTGGACTGT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137809940	T T	TGGTTCCG others(40): Show TGGTTCCGATGCCGCCCCGCGTGGACCGTCGGTGATGGGTCTGGAGGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp2 HG02970.hp2 others(1): Show HG02258.hp1 HG02809.hp2 HG02970.hp2 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0008 a0001c0003 a0001c0007 a0001c0008	a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001	a0001c0003t0001g0060 a0001c0007t0001g0052 a0001c0008t0001g0150 others(1): Show a0001c0003t0001g0060 a0001c0007t0001g0052 a0001c0008t0001g0150 a0001c0008t0001g0156	4	163	0.0245	47	c.271 others(66): Show c.2713-1505_2713-1504insCGCGTGGACCGTCGGTGATGGGTCTG GAGGCGGTTCCGATGCCGCCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137810194	T T	TGTGGACC others(40): Show TGTGGACCGTCGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(68): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp2 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02109.hp2 HG02129.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02523.hp1 HG02523.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG06807.hp2 NA18943.hp2 NA18947.hp1 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19066.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0011 a0001c0015 a0001c0019 a0001c0022 a0001c0025 a0002c0010 a0003c0023 a0006c0012 a0008c0027 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0009t0001 a0001c0011t0001 a0001c0015t0001 a0001c0019t0001 a0001c0022t0001 a0001c0025t0001 a0002c0010t0001 a0003c0023t0001 a0006c0012t0001 a0008c0027t0001 a0009c0021t0001	a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0039 others(68): Show a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0002g0079 a0001c0001t0002g0123 a0001c0002t0001g0035 a0001c0004t0001g0151 a0001c0004t0001g0153 a0001c0004t0001g0157 a0001c0009t0001g0061 a0001c0011t0001g0036 a0001c0015t0001g0102 a0001c0019t0001g0037 a0001c0022t0001g0044 a0001c0025t0001g0051 a0002c0010t0001g0126 a0002c0010t0001g0127 a0002c0010t0001g0168 a0003c0023t0001g0075 a0006c0012t0001g0160 a0008c0027t0001g0125 a0009c0021t0001g0093	71	129	0.5504	47	c.271 others(66): Show c.2713-1222_2713-1176dupCGCGTGGACCGTCGGTGATGGGTCCG GAGGCGGTTCCGATGCCGCCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137810249	G G	GTCGGTGA others(40): Show GTCGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCGCGTGGACCA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02293.hp2 HG01361.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0162 a0001c0001t0001g0165	2	168	0.0119	47	c.271 others(66): Show c.2713-1176_2713-1175insCGCGTGGACCATCGGTGATGGGTCCG GAGGCGGTTCCGATGCCGCCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	129	0.0078	47	c.119 others(64): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATATATATATATTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	195	0.0051	47	c.299 others(62): Show c.299-733_299-732insATATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	21179832	T T	TAATATAT others(40): Show TAATATATTATATATATTATATAATATATATAATACATTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01361.hp2 HG01515.hp1 HG01109.hp2 HG01361.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0207 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0001g0207 a0001c0001t0002g0058 a0001c0001t0002g0064	3	309	0.0097	47	c.-35 others(58): Show c.-3567_-3566insTATATATATAATGTATTATATATATTATATAATA TATATAATATATT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2936		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21179920	T T	TATATATT others(40): Show TATATATTGTATATTATATAATATATAATATATATTGTATATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0306 a0001c0002t0026g0306	1	307	0.0033	47	c.-36 others(58): Show c.-3655_-3654insTATATAATATACAATATATATTATATATTATATA ATATACAATATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3024		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21179957	T T	TATATATT others(40): Show TATATATTGTATATTATATAATATATAATATATATTGTATATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0275 a0001c0001t0021g0275	1	307	0.0033	47	c.-36 others(58): Show c.-3692_-3691insTATATAATATACAATATATATTATATATTATATA ATATACAATATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3061		chr1	TogoVar
ELAC2_chr17_12986612_13023027	12990155	A A	AGAGCACC others(40): Show AGAGCACCGCCCTCTGACATGACACCGCCCATCCTGCCTCGCGTGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	398	0.0025	47	c.26 others(58): Show c.2616_*2662dupGTACACGCGAGGCAGGATGGGCGGTGTCATGTCA GAGGGCGGTGCTC	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		1456		chr17	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(40): Show TCCAGTCTCACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18974.hp1 NA18943.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0287 a0001c0001t0001g0275 a0001c0001t0001g0287	2	70	0.0286	47	c.238 others(66): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139172887	G G	GGGGGGGG others(40): Show GGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	340	0.0029	47	c.-25 others(66): Show c.-252+4079_-252+4080insGCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCACCCCCCCCCCCCCCC	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGT others(40): Show GGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	72	0.0139	47	c.-47 others(58): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACACCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGG others(40): Show GGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	72	0.0139	47	c.-47 others(58): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACCCGCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGG others(40): Show GGGGGGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02896.hp2 HG01167.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0006 a0001c0001t0005 a0001c0002t0006	a0001c0001t0005g0025 a0001c0002t0006g0026 a0001c0001t0005g0025 a0001c0002t0006g0026	2	73	0.0274	47	c.-47 others(58): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACCCGCCCCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELOVL5_chr6_53262404_53353950	53306208	A A	AAGGGGAG others(40): Show AAGGGGAGAGGGGAGAGGGGAGAGGGAGAGGGGAGAGGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0300 a0001c0001t0017g0300	1	297	0.0034	47	c.-8- others(64): Show c.-8-10502_-8-10501insCTCCCTCTCCCCTCTCCCCTCTCCCTCT CCCCTCTCCCCTCTCCCCT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53306210	G G	GGGGAGAG others(40): Show GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGAGAGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	318	0.0031	47	c.-8- others(64): Show c.-8-10550_-8-10504dupTCTCCCCTCTCCCCTCTCCCTCTCCCCT CTCCCCTCTCCCCTCTCCC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELP1_chr9_108862517_108939124	108900843	A A	ACACACAT others(40): Show ACACACATACACGCCACACACACATACACGCCACACACACATACACGC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0108 a0002c0013t0001g0108	1	398	0.0025	47	c.201 others(64): Show c.2015-469_2015-468insGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
EML5_chr14_88607431_88797953	88796163	G G	GTATATAT others(40): Show GTATATATATATTATATATATATTATATGTTATATATATTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02027.hp1 HG02523.hp1 others(1): Show HG00544.hp1 HG02027.hp1 HG02523.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0032 a0001c0001t0010g0033 a0001c0001t0010g0034 others(1): Show a0001c0001t0010g0032 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0010g0035	4	330	0.0121	47	c.-36 others(58): Show c.-3661_-3660insATATATATAATATATATAACATATAATATATATA TAATATATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3211		chr14	TogoVar
EML5_chr14_88607431_88797953	88796882	G G	GTATATAT others(40): Show GTATATATATTATATATTATATATATTATATGTTATATATATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0329 a0001c0003t0004g0329	1	313	0.0032	47	c.-43 others(58): Show c.-4380_-4379insTATATAATATATATAACATATAATATATATAATA TATAATATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3930		chr14	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(40): Show GTTGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0031 a0001c0011t0031	a0001c0011t0031g0104 a0001c0011t0031g0104	1	22	0.0455	47	c.496 others(64): Show c.4968+852_4968+853insGTTTTTTTTTTTGTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP1_chr12_13191726_13224941	13212135	G G	GCAAAGAG others(40): Show GCAAAGAGTAGCATGTGAAAGTGGAGTTTTGCAAGATTAACCCAGTGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0195 a0001c0001t0004g0195	1	442	0.0023	47	c.78+ others(60): Show c.78+550_78+596dupAAGAGTAGCATGTGAAAGTGGAGTTTTGCAAG ATTAACCCAGTGCCA	EMP1	ENSG00000134531.10	transcript	ENST00000256951.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ENDOV_chr17_80410167_80443086	80436176	T T	TTCCTGAC others(40): Show TTCCTGACTCAGAACGCAGTGGTGAGAGCACACGTCCTAGTCTCGTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0152 a0001c0001t0020g0152	1	418	0.0024	47	c.39 others(54): Show c.39_*40insCTCAGAACGCAGTGGTGAGAGCACACGTCCTAGTCTCG TTCTCCTGA	ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	10/10	40	INFO_REALIGN_3_PRIME	chr17	TogoVar
ENOSF1_chr18_665318_717630	666945	T T	TGATGGTG others(40): Show TGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0186 a0002c0005t0001g0186	1	382	0.0026	47	c.73 others(58): Show c.7359_*7360insCCATCACCATCACCATCTCCATCACCATCACCAT CACCATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3372		chr18	TogoVar
ENOSF1_chr18_665318_717630	667617	G G	GGTGATGG others(40): Show GGTGATGGTGATGGTGATGGTGATGGTGATGGTGATGGTGATGGTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0105 a0002c0002t0020g0105	1	314	0.0032	47	c.66 others(58): Show c.6687_*6688insATCACCATCACCATCACCATCACCATCACCATCA CCATCACCATCAC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2700		chr18	TogoVar
ENOSF1_chr18_665318_717630	672279	T T	TAAAAGTT others(40): Show TAAAAGTTACTCCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0283 a0001c0003t0026g0283	1	416	0.0024	47	c.20 others(58): Show c.2025_*2026insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT AGGAGTAACTTTT	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	16/16	2025		chr18	TogoVar
ENTR1_chr9_136396922_136415614	136403322	G G	GGGGGGAG others(40): Show GGGGGGAGAAAGGGACAGGGTCCCAGGAAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	244	0.0041	47	c.120 others(64): Show c.1209-436_1209-435insGGCAAACCCCACCCCTTGCTTCCTGGGA CCCTGTCCCTTTCTCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403322	G G	GGGGGGAG others(40): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(135): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG03041.hp1 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03654.hp1 HG03669.hp1 HG03942.hp1 HG03942.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0026 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0002t0001 a0001c0004t0001 a0001c0026t0001 a0003c0005t0001 a0003c0005t0016	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0168 a0001c0001t0005g0091 a0001c0001t0009g0046 a0001c0001t0009g0170 a0001c0001t0012g0061 a0001c0001t0017g0074 a0001c0002t0001g0136 a0001c0004t0001g0089 a0001c0026t0001g0113 a0003c0005t0001g0077 a0003c0005t0001g0078 a0003c0005t0001g0079 a0003c0005t0001g0080 a0003c0005t0001g0084 a0003c0005t0016g0066	138	381	0.3622	47	c.120 others(64): Show c.1209-436_1209-435insGGCAAACCCCACCCCTTGCTCCCTGGGA CCCTGTCCCTTTCTCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403322	G G	GGGGGGAG others(40): Show GGGGGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	244	0.0041	47	c.120 others(64): Show c.1209-482_1209-436dupGGCAAACCCCACCCCTTGCTCCCTGGAA CCCTGTCCCTTTCTCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403393	A A	AGGGAGCA others(40): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	351	0.0028	47	c.120 others(64): Show c.1209-553_1209-507dupAGGAACCCTGTCCCTTTCTTCCCCGGCA AACCCCACCCCTTGCTCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403464	G G	GGGGGGAG others(40): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	408	0.0025	47	c.120 others(64): Show c.1209-578_1209-577insGGCAAACCCCACCCCTTGCTCCCTGGGA CCCTGTCCCTTTCTCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(40): Show CACACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	274	0.0036	47	c.-8+ others(64): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACACACACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPHA8_chr1_22558489_22608595	22599873	G G	GAAGGAAG others(40): Show GAAGGAAGGAGGGAAAGGAGAAAGGAGGGAAGGAAGGAGAAAGAAGGA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0017 a0017	a0017c0041 a0017c0041	a0017c0041t0001 a0017c0041t0001	a0017c0041t0001g0036 a0017c0041t0001g0036	1	340	0.0029	47	c.238 others(64): Show c.2389-787_2389-786insAGGAAGGAGGGAAAGGAGAAAGGAGGGA AGGAAGGAGAAAGAAGGAA	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22820267	T T	TGGTTCCC others(40): Show TGGTTCCCCTGAAAGCCAGAGAGCAACAGGAGTGACAGCTTTCATGGG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	246	0.0041	47	c.811 others(66): Show c.811+35193_811+35239dupGTTCCCCTGAAAGCCAGAGAGCAACA GGAGTGACAGCTTTCATGGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB6_chr7_142850076_142876093	142874129	T T	TCGCCAAA others(40): Show TCGCCAAAAATCATCTAGAAGGAGCAGGAGGCAGAGAACATCTGCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	310	0.0032	47	c.32 others(58): Show c.3225_*3226insCGCCAAAAATCATCTAGAAGGAGCAGGAGGCAGA GAACATCTGCACA	EPHB6	ENSG00000106123.12	transcript	ENST00000652003.1	protein_coding		3037		chr7	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(40): Show CCCGCACCCGCCCGCACCCGCCGCACCCGCCCGCACCCGCCGCACCCG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp2 HG03225.hp2 others(1): Show HG02818.hp2 HG03098.hp2 HG03225.hp2 HG03486.hp1	a0028 a0113 a0119 a0028 a0113 a0119	a0028c0018 a0113c0124 a0119c0125 a0028c0018 a0113c0124 a0119c0125	a0028c0018t0001 a0113c0124t0001 a0119c0125t0001 a0028c0018t0001 a0113c0124t0001 a0119c0125t0001	a0028c0018t0001g0017 a0028c0018t0001g0128 a0113c0124t0001g0126 others(1): Show a0028c0018t0001g0017 a0028c0018t0001g0128 a0113c0124t0001g0126 a0119c0125t0001g0127	4	155	0.0258	47	c.-46 others(60): Show c.-46+42_-46+43insCGGGTGCGGCGGGTGCGGGCGGGTGCGGCGGG TGCGGGCGGGTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(40): Show CCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp1 HG03579.hp1 HG02809.hp1 HG03453.hp1 HG03579.hp1	a0043 a0105 a0043 a0105	a0043c0043 a0105c0126 a0043c0043 a0105c0126	a0043c0043t0001 a0105c0126t0004 a0043c0043t0001 a0105c0126t0004	a0043c0043t0001g0032 a0105c0126t0004g0231 a0043c0043t0001g0032 a0105c0126t0004g0231	3	154	0.0195	47	c.-46 others(60): Show c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG GTGCGGCGGGTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar

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