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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DAZAP1_chr19_1402586_1440684	1420122	TCCCGAAC others(46): Show TCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19030.hp1 HG02965.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0293 a0001c0001t0002g0292 a0001c0001t0001g0293 a0001c0001t0002g0292	2	279	0.0072	-53	c.304 others(68): Show c.304-814_304-762delCCCCGAACGTCACGGCGGCGAGCACTCACC CCACGCGCACACTCATGAAACCA		DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX51_chr12_132131594_132149319	132144123	TGCAGCCG others(46): Show TGCAGCCGCCTCGGTCTGCGCGGGCTCCCGCTGCTGCTGCCGTTCGCGGG CCCG	T T	frameshift_variant frameshift_variant	HIGH	NA18977.hp1 NA18977.hp1	a0021 a0021	a0021c0021 a0021c0021	a0021c0021t0001 a0021c0021t0001	a0021c0021t0001g0034 a0021c0021t0001g0034	1	332	0.0030	-53	c.121 others(60): Show c.121_173delCGGGCCCGCGAACGGCAGCAGCAGCGGGAGCCCGCGCA GACCGAGGCGGCTGC	p.Arg others(4): Show p.Arg41fs	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding	1/15	196/4702	121/2001	41/666			chr12	TogoVar
DERA_chr12_15906332_16042381	16019069	TGGTGTTG others(46): Show TGGTGTTGGTAATTCAAAATGTAGCATTTATTTCTCTAAAGTAATTTCGT TTTA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	256	0.0039	-53	c.638 others(72): Show c.638-13471_638-13419delGTGTTGGTAATTCAAAATGTAGCATT TATTTCTCTAAAGTAATTTCGTTTTAG		DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
DGKD_chr2_233349494_233477098	233397484	TGGCGGGG others(46): Show TGGCGGGGGGCCAGAGCGAGGCGAGAGGACACCAGAGGGGACCAGGGTGG CTGG	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	334	0.0030	-53	c.348 others(70): Show c.348+7004_348+7056delCGGGGGGCCAGAGCGAGGCGAGAGGACA CCAGAGGGGACCAGGGTGGCTGGGG		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS12_chr13_51762993_51809163	51774731	TGTATTCT others(46): Show TGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTCC TACA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0238 a0002c0002t0003g0238	1	411	0.0024	-53	c.364 others(68): Show c.364-750_364-698delTGTAGGAGAATACATGTAGGAGAATACTGT AGGAGAATACTGTAGGAGAATAC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DIP2B_chr12_50499985_50753657	50579643	AAATATAT others(46): Show AAATATATATATATATATATATATATATATATATATATATATATATATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG06807.hp1 NA20129.hp1 HG01891.hp1 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004	3	262	0.0115	-53	c.101 others(72): Show c.101-46331_101-46279delATATATATATATATATATATATATAT ATATATATATATATATATATATATATA		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	336925	GGAGGCCT others(46): Show GGAGGCCTAGACTGGTGTGTGCGCGTGTGTGTGTGTTGTGGAGGCCTAGG CAGC	G G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	88	0.0114	-53	c.358 others(72): Show c.3584+4221_3584+4273delGCTGCCTAGGCCTCCACAACACACAC ACACGCGCACACACCAGTCTAGGCCTC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	29/36						chr10	TogoVar
DLGAP2_chr8_732628_1713476	840585	CGTCTCCC others(46): Show CGTCTCCCCACACTCTGGATTCTGCGAGCGCGTCCACACGGTGCACGCCT GCAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20300.hp1 NA20300.hp2 HG02818.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0002t0027 a0001c0003t0013 a0001c0002t0006 a0001c0002t0027 a0001c0003t0013	a0001c0002t0006g0011 a0001c0002t0027g0023 a0001c0003t0013g0007 a0001c0002t0006g0011 a0001c0002t0027g0023 a0001c0003t0013g0007	3	40	0.0750	-53	c.19- others(70): Show c.19-67319_19-67267delCACACTCTGGATTCTGCGAGCGCGTCCA CACGGTGCACGCCTGCATGTCTCCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	840631	GCCTGCAT others(46): Show GCCTGCATGTCTCCCTACACTCTGGATTCTGCGAGCGCGTCCACACGGTG CACA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	16	0.0625	-53	c.19- others(70): Show c.19-67276_19-67224delCATGTCTCCCTACACTCTGGATTCTGCG AGCGCGTCCACACGGTGCACACCTG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1088788	ACTCCCCC others(46): Show ACTCCCCCCACCCCACTCTCTCCACCCCTCATCCAGCAGGCTATGCCATT CTCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01361.hp1 others(19): Show HG00639.hp1 HG01071.hp1 HG01361.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG02074.hp1 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(4): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001 a0002c0004 a0002c0007 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(17): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0002t0022 a0001c0003t0001 a0001c0003t0006 a0001c0003t0014 a0001c0003t0024 a0001c0009t0012 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018 a0002c0007t0008 a0003c0005t0002	a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0002t0009g0039 others(19): Show a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0002t0022g0034 a0001c0003t0001g0025 a0001c0003t0006g0033 a0001c0003t0014g0020 a0001c0003t0024g0003 a0001c0009t0012g0006 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0001t0003g0017 a0002c0001t0003g0021 a0002c0001t0005g0029 a0002c0001t0007g0038 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0007t0008g0040 a0003c0005t0002g0030	22	40	0.5500	-53	c.74- others(72): Show c.74-170016_74-169964delATTCTCGCTCCCCCCACCCCACTCTC TCCACCCCTCATCCAGCAGGCTATGCC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32452286	AGGAAAGG others(46): Show AGGAAAGGAAAAGGAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGTG AAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18948.hp1 NA18989.hp1 others(1): Show HG02723.hp1 NA18948.hp1 NA18989.hp1 NA19000.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0008 a0007c0018 a0001c0001 a0003c0008 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0003c0008t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0008t0003 a0007c0018t0001	a0001c0001t0001g0034 a0001c0001t0002g0029 a0003c0008t0003g0116 others(1): Show a0001c0001t0001g0034 a0001c0001t0002g0029 a0003c0008t0003g0116 a0007c0018t0001g0061	4	126	0.0317	-53	c.360 others(72): Show c.3603+2323_3603+2375delCTTTCACTTTCACTTTCACTTTCACT TTCACTTTCCCTTTCCTTTTCCTTTCC		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78						chrX	TogoVar
DNAH17_chr17_78418697_78582396	78540930	GGTGGGTG others(46): Show GGTGGGTGGGTGGGTGGATCGGTGGATGAGTGGATGGGTGGATGGGTGGG TGGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0015 a0015	a0015c0163 a0015c0163	a0015c0163t0001 a0015c0163t0001	a0015c0163t0001g0158 a0015c0163t0001g0158	1	240	0.0042	-53	c.253 others(72): Show c.2533-1103_2533-1051delGCCACCCACCCATCCACCCATCCACT CATCCACCGATCCACCCACCCACCCAC		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80						chr17	TogoVar
DNAJB6_chr7_157332004_157422439	157369898	TATTATTA others(46): Show TATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACGGGACCCTTCT TAAG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0154 a0001c0001t0006g0155	2	370	0.0054	-53	c.346 others(70): Show c.346+2426_346+2478delAGGCCCCTTCTTAACATTATTATTAAAC GGGACCCTTCTTAAGATTATTAAAC		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369909	AGGCCCCT others(46): Show AGGCCCCTTCTTAACATTATTATTAAACGGGACCCTTCTTAAGATTATTA AACG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0028 a0001c0001t0011g0028	1	366	0.0027	-53	c.346 others(70): Show c.346+2432_346+2484delCTTCTTAACATTATTATTAAACGGGACC CTTCTTAAGATTATTAAACGGGCCC		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157418917	GTGCTGCA others(46): Show GTGCTGCAGATAGAGCCCGCGGCTGCTTATGCCAGCGTCTGCTGAGGGGG TGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(117): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG02015.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18984.hp1 NA18989.hp1 NA18993.hp1 NA18999.hp1 NA19005.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp1 NA19082.hp1 NA19084.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0003t0006 a0001c0005t0001 a0004c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0322 a0001c0001t0001g0330 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0345 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0002g0096 a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0023 a0001c0001t0003g0032 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0184 a0001c0001t0003g0238 a0001c0001t0003g0372 a0001c0001t0006g0189 a0001c0001t0009g0129 a0001c0001t0009g0130 a0001c0001t0009g0131 a0001c0001t0010g0009 a0001c0001t0010g0014 a0001c0001t0010g0335 a0001c0001t0013g0144 a0001c0001t0013g0339 a0001c0001t0015g0188 a0001c0001t0023g0138 a0001c0001t0024g0145 a0001c0003t0006g0153 a0001c0005t0001g0148 a0004c0004t0003g0016	120	247	0.4858	-53	c.28 others(64): Show c.2820_*2872delTGCTGCAGATAGAGCCCGCGGCTGCTTATGCCAG CGTCTGCTGAGGGGGTGGA		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding					1479		chr7	TogoVar
DNAJC5_chr20_63890126_63941011	63932765	AGAATCCA others(46): Show AGAATCCACACGTGGACCATTGTGGGTCCCTGGGAGGCCGGCAGCCAGGC CACG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0027 a0001c0001t0048g0027	1	370	0.0027	-53	c.12 others(64): Show c.1228_*1280delGGGAGGCCGGCAGCCAGGCCACGGAATCCACACG TGGACCATTGTGGGTCCCT		DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	5/5				1228	INFO_REALIGN_3_PRIME	chr20	TogoVar
DONSON_chr21_33572551_33593684	33577649	ACACACAC others(46): Show ACACACACACACACACACACACACACACACACACACACACACACACACAC ACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0063 a0001c0001t0029g0063	1	424	0.0024	-53	c.60 others(62): Show c.605_*657delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTG		DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10				605		chr21	TogoVar
DPH7_chr9_137549444_137583925	137550712	GCCGCTGG others(46): Show GCCGCTGGGGAGTGGGTGCAGCTGGGGAGGGGGTGGATCCGGCGTGTAGG GGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03098.hp1 NA18522.hp1 HG01891.hp1 HG03098.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0246 a0001c0001t0003g0249 a0001c0001t0003g0015 a0001c0001t0003g0246 a0001c0001t0003g0249	3	338	0.0089	-53	c.44 others(64): Show c.4474_*4526delTACCCCTACACGCCGGATCCACCCCCTCCCCAGC TGCACCCACTCCCCAGCGG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding					3731		chr9	TogoVar
DPH7_chr9_137549444_137583925	137550877	AGGGAGGG others(46): Show AGGGAGGGGGTGCAGCTGGGGAGGGGGTGGATCTGGGGTGTGGGGGTGCC GCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA19054.hp1 NA18964.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0048 a0001c0001t0001g0049	2	338	0.0059	-53	c.43 others(64): Show c.4309_*4361delCAGCGGCACCCCCACACCCCAGATCCACCCCCTC CCCAGCTGCACCCCCTCCC		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding					3566		chr9	TogoVar
DSCAML1_chr11_117422772_117802216	117577454	TTCCTTTC others(46): Show TTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01123.hp2 others(3): Show HG00673.hp1 HG00673.hp2 HG01123.hp2 HG02258.hp1 HG03486.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0001c0042 a0002c0004 others(2): Show a0001c0008 a0001c0042 a0002c0004 a0002c0059 a0002c0060	a0001c0008t0001 a0001c0042t0001 a0002c0004t0002 others(2): Show a0001c0008t0001 a0001c0042t0001 a0002c0004t0002 a0002c0059t0002 a0002c0060t0002	a0001c0008t0001g0137 a0001c0008t0001g0165 a0001c0042t0001g0127 others(3): Show a0001c0008t0001g0137 a0001c0008t0001g0165 a0001c0042t0001g0127 a0002c0004t0002g0152 a0002c0059t0002g0040 a0002c0060t0002g0193	6	194	0.0309	-53	c.512 others(72): Show c.512-44985_512-44933delGGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAAGGA		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32						chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117769499	TAATATAT others(46): Show TAATATATATTTTATATATATTATATATATTTTATATATATTATATATTT TATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp2 HG01257.hp1 others(3): Show HG00280.hp1 HG00741.hp2 HG01257.hp1 HG01515.hp1 HG02738.hp1 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0035 a0002c0001 a0002c0002 others(2): Show a0001c0035 a0002c0001 a0002c0002 a0002c0006 a0002c0010	a0001c0035t0001 a0002c0001t0002 a0002c0002t0002 others(2): Show a0001c0035t0001 a0002c0001t0002 a0002c0002t0002 a0002c0006t0001 a0002c0010t0002	a0001c0035t0001g0170 a0002c0001t0002g0089 a0002c0002t0002g0080 others(3): Show a0001c0035t0001g0170 a0002c0001t0002g0089 a0002c0002t0002g0080 a0002c0006t0001g0166 a0002c0010t0002g0017 a0002c0010t0002g0058	6	143	0.0420	-53	c.511 others(70): Show c.511+7239_511+7291delTATAAAATATATAATATATATAAAATAT ATATAATATATATAAAATATATATT		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32						chr11	TogoVar
DSG3_chr18_31442741_31483702	31457532	TTTCTTTC others(46): Show TTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA21309.hp1 HG02809.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0046 a0001c0003t0030 a0001c0003t0046	a0001c0003t0030g0198 a0001c0003t0046g0119 a0001c0003t0030g0198 a0001c0003t0046g0119	2	344	0.0058	-53	c.216 others(68): Show c.216+425_216+477delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCTTTCTTTCTTTCT		DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr18	TogoVar
DUXA_chr19_57149021_57172485	57172024	CCGCGAGG others(46): Show CCGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGGCGTGCGAGGGGGCGGG GGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG03486.hp1 others(1): Show HG02559.hp2 HG02622.hp2 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0199 a0001c0001t0001g0258 a0001c0001t0002g0023 others(1): Show a0001c0001t0001g0199 a0001c0001t0001g0258 a0001c0001t0002g0023 a0001c0001t0002g0135	4	427	0.0094	-53	c.-46 others(64): Show c.-4634_-4582delCGCCCCCGCCCCCTCGCACGCCCCCGCCCCCTCG CACGCCCCGCCCCCTCGCG		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4540		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172042	TGCGAGGG others(46): Show TGCGAGGGGGCGGGGGCGTGCGAGGGGGCGGGGGCGCGCGAGGGGGCGGG GCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03453.hp2 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0195 a0001c0001t0002g0301 a0001c0001t0001g0195 a0001c0001t0002g0301	2	364	0.0055	-53	c.-46 others(64): Show c.-4652_-4600delGCGCCCCGCCCCCTCGCGCGCCCCCGCCCCCTCG CACGCCCCCGCCCCCTCGC		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4558		chr19	TogoVar
ECHS1_chr10_133357485_133378354	133375854	ATGGACTC others(46): Show ATGGACTCTATTCAGGAGTAAAAAAGAAAGAAGCGCTGATACACATTACA AAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	352	0.0028	-53	c.-25 others(64): Show c.-2574_-2522delATTTTGTAATGTGTATCAGCGCTTCTTTCTTTTT TACTCCTGAATAGAGTCCA		ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding					2501		chr10	TogoVar
EDA_chrX_69611113_70044472	70019500	CTATGCAG others(46): Show CTATGCAGCACAGTAGACTGGATAAAGAAAATGTACATACATGTCATGGA ATAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG02109.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0130 a0001c0001t0020g0163 a0001c0001t0001g0130 a0001c0001t0020g0163	2	226	0.0088	-53	c.503 others(70): Show c.503-3709_503-3657delACAGTAGACTGGATAAAGAAAATGTACA TACATGTCATGGAATAATATGCAGC		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
EEF1A2_chr20_63483014_63504083	63491972	GGATGGAT others(46): Show GGATGGATGGATGGATGGATGGATGGATGGATGAGGAGATGAACGGATGG ATGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0117 a0002c0012t0002g0117	1	372	0.0027	-53	c.772 others(70): Show c.772+1112_772+1164delTCATCCATCCGTTCATCTCCTCATCCAT CCATCCATCCATCCATCCATCCATC		EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7						chr20	TogoVar
EFCAB6_chr22_43523778_43817305	43562554	CAGTCAGA others(46): Show CAGTCAGAGGTGGGAGGGAGGCAGCCCGGTGGGGGGTTGGAGGGAGGCAG CCCA	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0250 a0004c0005t0001g0250	1	288	0.0035	-53	c.342 others(72): Show c.3421-7511_3421-7459delTGGGCTGCCTCCCTCCAACCCCCCAC CGGGCTGCCTCCCTCCCACCTCTGACT		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	26/31						chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43562561	AGGTGGGA others(46): Show AGGTGGGAGGGAGGCAGCCCGGTGGGGGGTTGGAGGGAGGCAGCCCAGGT CAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02615.hp2 others(7): Show HG02055.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG06807.hp1	a0001 a0002 a0019 others(1): Show a0001 a0002 a0019 a0020	a0001c0001 a0002c0002 a0019c0031 others(1): Show a0001c0001 a0002c0002 a0019c0031 a0020c0025	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0019c0031t0002 a0020c0025t0002	a0001c0001t0001g0083 a0001c0001t0002g0006 a0001c0001t0002g0007 others(7): Show a0001c0001t0001g0083 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0002c0002t0001g0125 a0019c0031t0002g0012 a0020c0025t0002g0011	10	272	0.0368	-53	c.342 others(72): Show c.3421-7518_3421-7466delCCTGACCTGGGCTGCCTCCCTCCAAC CCCCCACCGGGCTGCCTCCCTCCCACC		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	26/31						chr22	TogoVar
ELANE_chr19_847303_861243	851270	CCGACACA others(46): Show CCGACACAGCTGCATGTGGCCGGTATCACAGGGCCCTGGGTAAACTGAGG CAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	-53	c.-10 others(64): Show c.-1058_-1006delCGACACAGCTGCATGTGGCCGGTATCACAGGGCC CTGGGTAAACTGAGGCAGG		ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding					1032		chr19	TogoVar
ELANE_chr19_847303_861243	851473	TGAGGCAG others(46): Show TGAGGCAGGTGACACAGCTGCATGTGGCCGGTATCACGGGGCCCTGGATA AACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	402	0.0025	-53	c.-85 others(62): Show c.-855_-803delGAGGCAGGTGACACAGCTGCATGTGGCCGGTATCAC GGGGCCCTGGATAAACA		ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding					829		chr19	TogoVar
ELOVL6_chr4_110040846_110203615	110063476	CTCCACAA others(46): Show CTCCACAAAAGGTAACCATGCACCAACTTTCCACAAGTGACAACTAGCAA GTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	336	0.0030	-53	c.222 others(70): Show c.222-3775_222-3723delAAACTTGCTAGTTGTCACTTGTGGAAAG TTGGTGCATGGTTACCTTTTGTGGA		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3						chr4	TogoVar
ELP1_chr9_108862517_108939124	108900807	CCACACAC others(46): Show CCACACACACATACACGCCACACACACATACACGCCACACACACATACAC GCCA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp2 HG01109.hp2 others(29): Show HG00408.hp1 HG01081.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01928.hp2 HG02004.hp1 HG02083.hp2 HG02698.hp1 HG03688.hp2 NA18939.hp1 NA18942.hp2 NA18956.hp2 NA18957.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18977.hp2 NA18979.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18990.hp1 NA18997.hp1 NA19012.hp2 NA19065.hp2 NA19082.hp1 NA19091.hp2 NA21309.hp2	a0001 a0004 a0009 others(2): Show a0001 a0004 a0009 a0017 a0027	a0001c0001 a0004c0007 a0004c0009 others(3): Show a0001c0001 a0004c0007 a0004c0009 a0009c0012 a0017c0046 a0027c0045	a0001c0001t0020 a0004c0007t0005 a0004c0009t0005 others(3): Show a0001c0001t0020 a0004c0007t0005 a0004c0009t0005 a0009c0012t0005 a0017c0046t0005 a0027c0045t0005	a0001c0001t0020g0292 a0004c0007t0005g0025 a0004c0007t0005g0265 others(26): Show a0001c0001t0020g0292 a0004c0007t0005g0025 a0004c0007t0005g0265 a0004c0007t0005g0266 a0004c0007t0005g0267 a0004c0007t0005g0268 a0004c0007t0005g0269 a0004c0007t0005g0271 a0004c0007t0005g0272 a0004c0007t0005g0273 a0004c0007t0005g0274 a0004c0007t0005g0280 a0004c0009t0005g0275 a0004c0009t0005g0276 a0004c0009t0005g0277 a0004c0009t0005g0278 a0004c0009t0005g0282 a0004c0009t0005g0283 a0004c0009t0005g0284 a0004c0009t0005g0286 a0004c0009t0005g0289 a0004c0009t0005g0290 a0004c0009t0005g0291 a0009c0012t0005g0008 a0009c0012t0005g0262 a0009c0012t0005g0263 a0009c0012t0005g0264 a0017c0046t0005g0285 a0027c0045t0005g0279	32	414	0.0773	-53	c.201 others(70): Show c.2015-485_2015-433delTGGCGTGTATGTGTGTGTGGCGTGTATG TGTGTGTGGCGTGTATGTGTGTGTG		ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36						chr9	TogoVar
ELP1_chr9_108862517_108939124	108900841	CCACACAC others(46): Show CCACACACACATACACGCCACACACACATACACGCCACACACACATACAC GCCA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0003 a0001c0036t0003	a0001c0036t0003g0090 a0001c0036t0003g0090	1	409	0.0024	-53	c.201 others(70): Show c.2015-519_2015-467delTGGCGTGTATGTGTGTGTGGCGTGTATG TGTGTGTGGCGTGTATGTGTGTGTG		ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36						chr9	TogoVar
EMSY_chr11_76440018_76558031	76494683	CTTCCTTC others(46): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03017.hp2 NA18747.hp1 others(7): Show HG00621.hp1 HG03017.hp2 NA18747.hp1 NA18942.hp1 NA18957.hp1 NA18968.hp2 NA18990.hp1 NA19009.hp2 NA19057.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0296 others(7): Show a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312	10	358	0.0279	-53	c.115 others(72): Show c.1154-1517_1154-1465delCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTTCCTTCCTTCCTT		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
ENDOV_chr17_80410167_80443086	80442785	CAGCATCA others(46): Show CAGCATCACAGAGCTGGGAGAAGAGTTCATTCTAAGGGGGTAACGGGGGG ACAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0178 a0002c0002t0009g0178	1	418	0.0024	-53	c.66 others(64): Show c.6643_*6695delAGCATCACAGAGCTGGGAGAAGAGTTCATTCTAA GGGGGTAACGGGGGGACAA		ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding					4700		chr17	TogoVar
ENOSF1_chr18_665318_717630	667227	TGATGGAG others(46): Show TGATGGAGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTG ATGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 NA18985.hp1 HG01261.hp2 NA18985.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0029 a0001c0001t0002 a0003c0004t0029	a0001c0001t0002g0092 a0003c0004t0029g0348 a0001c0001t0002g0092 a0003c0004t0029g0348	2	345	0.0058	-53	c.70 others(64): Show c.7025_*7077delCCATCACCATCACCATCTCCATCACCATCACCAT CACCATCTCCATCTCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3090		chr18	TogoVar
ENOSF1_chr18_665318_717630	667233	AGATGGAG others(46): Show AGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGGA TGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	272	0.0037	-53	c.70 others(64): Show c.7019_*7071delACCATCCCATCACCATCACCATCTCCATCACCAT CACCATCACCATCTCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3084		chr18	TogoVar
ENTPD8_chr9_137429364_137446357	137441020	CCCCCCAG others(46): Show CCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCAGACCAGG ACAG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp1 HG02723.hp2 others(1): Show HG01123.hp1 HG02109.hp1 HG02723.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0022t0001 a0001c0001t0001 a0001c0022t0001	a0001c0001t0001g0016 a0001c0022t0001g0038 a0001c0001t0001g0016 a0001c0022t0001g0038	4	203	0.0197	-53	c.-21 others(68): Show c.-21+213_-21+265delCTGTCCTGGTCTGGGGGGCTGTCCTGGTCT GGGGGGCTGTCCTGGTCTGGGGG		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9						chr9	TogoVar
EPHA8_chr1_22558489_22608595	22599605	GGGAGGGA others(46): Show GGGAGGGAGGGAGGAAGAAGGGAAGGAAGGAAGGGAGGGAGGGAAGGAAG GAAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02486.hp2 others(15): Show HG02145.hp1 HG02257.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp1 HG06807.hp1 NA18957.hp2 NA18967.hp2 NA19057.hp1 NA19240.hp1 NA21309.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0019	a0001c0002 a0001c0006 a0001c0011 others(6): Show a0001c0002 a0001c0006 a0001c0011 a0001c0013 a0001c0022 a0004c0018 a0005c0012 a0005c0044 a0019c0034	a0001c0002t0003 a0001c0002t0010 a0001c0006t0004 others(10): Show a0001c0002t0003 a0001c0002t0010 a0001c0006t0004 a0001c0011t0008 a0001c0011t0010 a0001c0011t0038 a0001c0013t0017 a0001c0022t0004 a0004c0018t0003 a0004c0018t0047 a0005c0012t0002 a0005c0044t0002 a0019c0034t0002	a0001c0002t0003g0275 a0001c0002t0010g0166 a0001c0006t0004g0283 others(14): Show a0001c0002t0003g0275 a0001c0002t0010g0166 a0001c0006t0004g0283 a0001c0011t0008g0134 a0001c0011t0010g0142 a0001c0011t0038g0074 a0001c0013t0017g0299 a0001c0013t0017g0300 a0001c0013t0017g0301 a0001c0022t0004g0032 a0001c0022t0004g0033 a0004c0018t0003g0284 a0004c0018t0047g0161 a0005c0012t0002g0009 a0005c0012t0002g0031 a0005c0044t0002g0289 a0019c0034t0002g0177	18	340	0.0529	-53	c.238 others(70): Show c.2388+575_2388+627delAAGGGAAGGAAGGAAGGGAGGGAGGGAA GGAAGGAAAGGAGGGAGGGAGGAAG		EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX3_chr19_15221919_15237448	15222235	TCACTGCA others(46): Show TCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCT CCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	372	0.0027	-53	c.51 others(64): Show c.5149_*5201delCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCG GGAGGCAGAGGTTGCAGTG		EPHX3	ENSG00000105131.8	transcript	ENST00000221730.8	protein_coding					4683		chr19	TogoVar
EPN3_chr17_50527735_50548750	50530463	CCAGCTTG others(46): Show CCAGCTTGGGTGACAAGAGTGAGACTCTTACCTCCAAAAAAAAAGAATCA ACTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0049	1	348	0.0029	-53	c.-26 others(64): Show c.-2658_-2606delCAGCTTGGGTGACAAGAGTGAGACTCTTACCTCC AAAAAAAAAGAATCAACTT		EPN3	ENSG00000049283.19	transcript	ENST00000268933.8	protein_coding					2271		chr17	TogoVar
ERBB4_chr2_211370717_212543802	211613393	GGAGAATG others(46): Show GGAGAATGTAGCTGAAGATGGAGATATTTGAAATAGTAATTTCAAATGTG AGGC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG02965.hp1 others(6): Show HG02258.hp2 HG02717.hp1 HG02965.hp1 HG03195.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0020 a0001c0001t0028 a0001c0004t0021	a0001c0001t0001g0021 a0001c0001t0006g0039 a0001c0001t0007g0018 others(6): Show a0001c0001t0001g0021 a0001c0001t0006g0039 a0001c0001t0007g0018 a0001c0001t0009g0046 a0001c0001t0010g0005 a0001c0001t0017g0029 a0001c0001t0020g0028 a0001c0001t0028g0053 a0001c0004t0021g0009	9	56	0.1607	-53	c.230 others(72): Show c.2301+5731_2301+5783delGCCTCACATTTGAAATTACTATTTCA AATATCTCCATCTTCAGCTACATTCTC		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	211768748	GAAACCAT others(46): Show GAAACCATTTTTTCCTCCTAGGCCTTTTGGCTTGTGATGCGAGGGTTGCC ATGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0027 a0001c0002t0013g0027	1	56	0.0179	-53	c.557 others(72): Show c.557-18097_557-18045delTCATGGCAACCCTCGCATCACAAGCC AAAAGGCCTAGGAGGAAAAAATGGTTT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015040	AAATATAT others(46): Show AAATATATATATATATATATATATATATATATATATATATATATATATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	54	0.0185	-53	c.235 others(72): Show c.235-67477_235-67425delATATATATATATATATATATATATAT ATATATATATATATATATATATATATT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27						chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015042	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03486.hp1 HG01891.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0016 a0001c0001t0012 a0001c0002t0016	a0001c0001t0012g0001 a0001c0002t0016g0019 a0001c0001t0012g0001 a0001c0002t0016g0019	2	39	0.0513	-53	c.235 others(72): Show c.235-67479_235-67427delATATATATATATATATATATATATAT ATATATATATATATATATATATATATA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27						chr2	TogoVar
ERC1_chr12_986223_1500931	1014156	ACTTAAAA others(46): Show ACTTAAAAAAATGTAAGTTTTTTTTTTTGTTTGTTTTTGAGACAGGGTTT CACT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	160	0.0063	-53	c.-15 others(74): Show c.-156-13589_-156-13537delTAAAAAAATGTAAGTTTTTTTTTT TGTTTGTTTTTGAGACAGGGTTTCACTCT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	675157	GTGAGGAC others(46): Show GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCC CCTC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03516.hp1 HG01261.hp2 HG03516.hp1	a0005 a0008 a0005 a0008	a0005c0007 a0008c0017 a0005c0007 a0008c0017	a0005c0007t0001 a0008c0017t0002 a0005c0007t0001 a0008c0017t0002	a0005c0007t0001g0238 a0008c0017t0002g0367 a0005c0007t0001g0238 a0008c0017t0002g0367	2	373	0.0054	-53	c.305 others(70): Show c.305-1163_305-1111delGAGGGGGCGCCGCGTCTCTGTCCTCACG AGGGGCCGCCGCGTCTCTGTCCTCA		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675679	GTGAGGAC others(46): Show GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCC CCTC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	351	0.0028	-53	c.305 others(70): Show c.305-1685_305-1633delGAGGGGCCGCCGCGCCTCTGTCCTCACG AGGGGCCGCCGCGTCTCTGTCCTCA		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	676034	GTGAGGAC others(46): Show GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTC	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03139.hp2 HG01934.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0078 a0001c0001t0002g0294 a0001c0001t0001g0078 a0001c0001t0002g0294	2	376	0.0053	-53	c.305 others(70): Show c.305-2040_305-1988delGAGGGGCCGCCGCGTCTCTGTCCTCACG AGGGGCCGCCGCGTCTCTGTCCTCA		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar

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