Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
DLGAP2_chr8_732628_1713476	992784	ACCTTGCC others(47): Show ACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0001 a0002c0001t0011g0001	1	40	0.0250	-54	c.73+ others(71): Show c.73+84872_73+84925delTCCTTGCCCAGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	993000	ACCTTGCC others(47): Show ACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	-54	c.73+ others(71): Show c.73+85151_73+85204delAGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCTCCTTGCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	993117	AGACCCCC others(47): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCCG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	40	0.0250	-54	c.73+ others(71): Show c.73+85196_73+85249delTCCTTGCCCGGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	993279	AGACCCCC others(47): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT ACCCG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02976.hp2 HG01361.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0015 a0002c0001t0001g0018 a0001c0002t0001g0015 a0002c0001t0001g0018	2	40	0.0500	-54	c.73+ others(71): Show c.73+85363_73+85416delACCCGGACCCCCTGCACCCCCATACTCG GAGTTCCTGTTCTTCTCTCCCACCTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	993441	AGACCCCC others(47): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp1 HG02922.hp2 HG01891.hp1 HG02922.hp1 HG02922.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0001 a0005c0006 a0001c0003 a0002c0001 a0005c0006	a0001c0003t0024 a0002c0001t0019 a0005c0006t0002 a0001c0003t0024 a0002c0001t0019 a0005c0006t0002	a0001c0003t0024g0003 a0002c0001t0019g0030 a0005c0006t0002g0031 a0001c0003t0024g0003 a0002c0001t0019g0030 a0005c0006t0002g0031	3	40	0.0750	-54	c.73+ others(71): Show c.73+85520_73+85573delTCCTTGCCTGGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1039607	CGTGGTCA others(47): Show CGTGGTCAGCTCGGTGTGCGTGGTCAGCTCGGTGTGCGTGGTCAGCTCGG TGTGG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	40	0.0250	-54	c.73+ others(73): Show c.73+131692_73+131745delGTGGGTGGTCAGCTCGGTGTGCGTGG TCAGCTCGGTGTGCGTGGTCAGCTCGGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1235089	ATGGCGTC others(47): Show ATGGCGTCGTGTCTAGTTCTCTCACACATGGCGTCGTGTCTGCTTCCCTC ACACG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01071.hp1 others(23): Show HG00639.hp1 HG00639.hp2 HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03710.hp1 HG03710.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0012 others(6): Show a0001c0002 a0001c0003 a0001c0012 a0001c0013 a0001c0014 a0002c0001 a0002c0004 a0002c0009 a0004c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(20): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0003t0001 a0001c0003t0006 a0001c0003t0014 a0001c0003t0017 a0001c0012t0012 a0001c0013t0025 a0001c0014t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0009t0021 a0004c0005t0004	a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0006g0011 others(23): Show a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0012t0012g0006 a0001c0013t0025g0012 a0001c0014t0004g0036 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0005g0028 a0002c0001t0011g0001 a0002c0001t0019g0030 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0009t0021g0014 a0004c0005t0004g0037	26	40	0.6500	-54	c.74- others(71): Show c.74-23729_74-23676delTCGTGTCTGCTTCCCTCACACGTGGCGT CGTGTCTAGTTCTCTCACACATGGCG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375073	TCACCTCT others(47): Show TCACCTCTCCACGACCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTT AACGA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp2 NA18906.hp2 HG02976.hp2 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0001 a0001c0002t0022 a0001c0012t0012 a0001c0002t0001 a0001c0002t0022 a0001c0012t0012	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0012t0012g0006 a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0012t0012g0006	3	40	0.0750	-54	c.106 others(75): Show c.106+116216_106+116269delGCCCCCACCTCCTACATTTGGGTT AACGACACCTCTCCACGACCTCAGAACTGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375129	ACCTCTCC others(47): Show ACCTCTCCACGACCTCAGAACTGATCCCCCACCTCCTACATTTGGGTTAA CGACC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0015 a0003c0008t0015	a0003c0008t0015g0002 a0003c0008t0015g0002	1	40	0.0250	-54	c.106 others(75): Show c.106+116257_106+116310delACCTCAGAACTGATCCCCCACCTC CTACATTTGGGTTAACGACCCCTCTCCACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375248	ACCTCAGA others(47): Show ACCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAACGACACCTCTC CACGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG03516.hp1 others(1): Show HG02976.hp2 HG03486.hp2 HG03516.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0012 a0003c0008 a0001c0002 a0001c0012 a0003c0008	a0001c0002t0001 a0001c0002t0022 a0001c0012t0012 others(1): Show a0001c0002t0001 a0001c0002t0022 a0001c0012t0012 a0003c0008t0015	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0012t0012g0006 others(1): Show a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0012t0012g0006 a0003c0008t0015g0002	4	40	0.1000	-54	c.106 others(75): Show c.106+116473_106+116526delGCCTCAGAACTGAGCCCCCACCTC CTACATTTGGGTTAACGACACCTCTCCACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375423	TCCCCCAC others(47): Show TCCCCCACCTCCTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAA CTGAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02258.hp1 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0017 a0002c0001t0005 a0001c0003t0017 a0002c0001t0005	a0001c0003t0017g0004 a0002c0001t0005g0028 a0001c0003t0017g0004 a0002c0001t0005g0028	2	40	0.0500	-54	c.106 others(75): Show c.106+116679_106+116732delCCTCTCCACGGCCTCAGAACTGAG CCCCCACCTCCTACATTTGGGTTAACGACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375993	CCCTCTCC others(47): Show CCCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAA CGACA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02258.hp1 others(1): Show HG01891.hp1 HG01891.hp2 HG02258.hp1 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0014 a0001c0003t0017 a0001c0003t0024 others(1): Show a0001c0003t0014 a0001c0003t0017 a0001c0003t0024 a0002c0001t0005	a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0003t0024g0003 others(1): Show a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0003t0024g0003 a0002c0001t0005g0028	4	40	0.1000	-54	c.106 others(75): Show c.106+117175_106+117228delGCCTCAGAACTGAGCCCCCACCTC CTACATTTGGGTTAACGACACCTCTCCACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1640300	GTGGGTCC others(47): Show GTGGGTCCTCAGTGTCAGACCTGCTGCTGAAGGGAAGCCCAGGCGTGCTG TCCCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp1 HG02647.hp2 others(3): Show HG01891.hp1 HG02647.hp1 HG02647.hp2 HG03486.hp1 HG03492.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0002t0022 a0001c0003t0017 others(3): Show a0001c0002t0002 a0001c0002t0022 a0001c0003t0017 a0001c0003t0024 a0002c0001t0002 a0002c0001t0005	a0001c0002t0002g0021 a0001c0002t0022g0034 a0001c0003t0017g0004 others(3): Show a0001c0002t0002g0021 a0001c0002t0022g0034 a0001c0003t0017g0004 a0001c0003t0024g0003 a0002c0001t0002g0013 a0002c0001t0005g0035	6	40	0.1500	-54	c.181 others(73): Show c.1810+7284_1810+7337delAGGGAAGCCCAGGCGTGCTGTCCCAT GGGTCCTCAGTGTCAGACCTGCTGCTGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32452297	AGGAAAGG others(47): Show AGGAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGTGAAAGGGAAAGG GAAAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0028 a0002c0020t0028	a0002c0020t0028g0010 a0002c0020t0028g0010	1	126	0.0079	-54	c.360 others(73): Show c.3603+2311_3603+2364delCTTTCCCTTTCCCTTTCACTTTCACT TTCACTTTCACTTTCACTTTCCCTTTCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33009463	CATATGTG others(47): Show CATATGTGTGTATGTGTATACACATGTGTGTATATGTATATGTGTATATA CACAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0010 a0003c0014t0010	a0003c0014t0010g0015 a0003c0014t0010g0015	1	126	0.0079	-54	c.93+ others(71): Show c.93+10622_93+10675delATGTGTATATACACATATACATATACAC ACATGTGTATACACATACACACATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMGDH_chr5_78992564_79074674	79053519	ACATACTA others(47): Show ACATACTAACTGGTACATAAATACGTGCCATGAAATTATGCATGTAAGGA CTTAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02896.hp1 others(2): Show HG02055.hp1 HG02486.hp2 HG02896.hp1 HG02922.hp1 NA20300.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0024 a0004c0006t0001g0302 a0004c0006t0001g0303 others(1): Show a0004c0006t0001g0024 a0004c0006t0001g0302 a0004c0006t0001g0303 a0004c0006t0001g0304	5	372	0.0134	-54	c.540 others(69): Show c.540+611_540+664delCTAAGTCCTTACATGCATAATTTCATGGCA CGTATTTATGTACCAGTTAGTATG	DMGDH	ENSG00000132837.15	transcript	ENST00000255189.8	protein_coding	4/15			chr5	TogoVar
DNAH14_chr1_224924675_225404286	225078789	TCTCTCTC others(47): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTC TCTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00621.hp1 others(44): Show HG00140.hp1 HG00558.hp1 HG00621.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01123.hp2 HG01167.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01515.hp2 HG01975.hp2 HG02004.hp1 HG02055.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02293.hp2 HG02647.hp1 HG02683.hp2 HG03017.hp2 HG03669.hp2 HG03704.hp2 HG04199.hp1 NA18612.hp1 NA18906.hp2 NA18941.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18966.hp1 NA18975.hp2 NA18984.hp1 NA18991.hp2 NA19003.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp2 NA19085.hp2 NA19091.hp2 NA20752.hp1 NA20905.hp2	a0001 a0006 a0010 others(12): Show a0001 a0006 a0010 a0014 a0017 a0023 a0025 a0033 a0035 a0038 a0047 a0067 a0087 a0105 a0108	a0001c0001 a0001c0008 a0006c0006 others(13): Show a0001c0001 a0001c0008 a0006c0006 a0010c0011 a0014c0017 a0017c0018 a0023c0027 a0025c0028 a0033c0033 a0035c0032 a0038c0116 a0047c0115 a0067c0095 a0087c0114 a0105c0093 a0108c0107	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0001c0008t0002 a0006c0006t0001 a0010c0011t0001 a0014c0017t0001 a0017c0018t0001 a0023c0027t0001 a0025c0028t0001 a0033c0033t0001 a0035c0032t0001 a0038c0116t0001 a0047c0115t0001 a0067c0095t0001 a0087c0114t0001 a0105c0093t0001 a0108c0107t0001	a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0001t0001g0147 others(44): Show a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0189 a0001c0001t0001g0234 a0001c0001t0002g0163 a0001c0008t0001g0151 a0001c0008t0001g0152 a0001c0008t0001g0155 a0001c0008t0001g0202 a0001c0008t0002g0154 a0006c0006t0001g0136 a0006c0006t0001g0137 a0006c0006t0001g0138 a0006c0006t0001g0143 a0010c0011t0001g0179 a0010c0011t0001g0180 a0010c0011t0001g0181 a0010c0011t0001g0239 a0014c0017t0001g0195 a0017c0018t0001g0173 a0017c0018t0001g0174 a0023c0027t0001g0142 a0025c0028t0001g0193 a0025c0028t0001g0194 a0033c0033t0001g0161 a0033c0033t0001g0162 a0035c0032t0001g0126 a0035c0032t0001g0209 a0038c0116t0001g0166 a0047c0115t0001g0135 a0067c0095t0001g0144 a0087c0114t0001g0176 a0105c0093t0001g0165 a0108c0107t0001g0201	47	240	0.1958	-54	c.242 others(71): Show c.2425-402_2425-349delTCTCTCTCTCTCTCTCTCTCCCTCTCTC TCTCTCTCTCCCTCTCTCTCTCTCTC	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH14_chr1_224924675_225404286	225335834	TATATGTA others(47): Show TATATGTACATACACATATGTACATATATGTACATACACATATACATATA TGTAC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0239 a0010c0011t0001g0239	1	240	0.0042	-54	c.100 others(75): Show c.10081-1427_10081-1374delGTACATACACATATGTACATATAT GTACATACACATATACATATATGTACATAT	DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	66/85		INFO_REALIGN_3_PRIME	chr1	TogoVar
DOCK3_chr3_50669927_51389198	51015734	TATATATA others(47): Show TATATATATCATATATTTCTATATATGATATATATATCATATATTTCTAT ATATG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp1 HG02559.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0184 a0001c0001t0001g0185	2	212	0.0094	-54	c.316 others(73): Show c.316-48705_316-48652delCATATATTTCTATATATGATATATAT ATCATATATTTCTATATATGATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK8_chr9_209865_470255	400716	TCACCACC others(47): Show TCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACC TCCAC	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0185 a0006c0010t0001g0185	1	256	0.0039	-54	c.323 others(73): Show c.3234+1478_3234+1531delCCACCAGCATCTTCACCATCACCACC ACCTCCACCACCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK9_chr13_98788429_98983064	98950897	AGAAGAAT others(47): Show AGAAGAATCGTCATTGGAAATCAATAGTCAGCTGCCACCCAAATCCCATG TCTTT	A A	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0288 a0001c0014t0001g0288	1	348	0.0029	-54	c.243 others(71): Show c.243+4484_243+4537delAAAGACATGGGATTTGGGTGGCAGCTGA CTATTGATTTCCAATGACGATTCTTC	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	2/52			chr13	TogoVar
DONSON_chr21_33572551_33593684	33577604	TACACACA others(47): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01099.hp1 HG02602.hp1 others(9): Show HG01070.hp2 HG01099.hp1 HG02602.hp1 HG02698.hp1 HG02818.hp1 HG02970.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03831.hp1 NA18987.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0031 a0001c0001t0139 a0001c0001t0013 a0001c0001t0031 a0001c0001t0139	a0001c0001t0013g0005 a0001c0001t0013g0046 a0001c0001t0013g0094 others(7): Show a0001c0001t0013g0005 a0001c0001t0013g0046 a0001c0001t0013g0094 a0001c0001t0013g0096 a0001c0001t0013g0108 a0001c0001t0031g0133 a0001c0001t0031g0134 a0001c0001t0031g0182 a0001c0001t0031g0309 a0001c0001t0139g0083	12	426	0.0282	-54	c.64 others(63): Show c.649_*702delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10	649		chr21	TogoVar
DOT1L_chr19_2158933_2237578	2200941	GCATTCCT others(47): Show GCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCCTCATTCCTCGTCGT CCCCT	G G	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18952.hp2 NA18964.hp2 others(2): Show NA18943.hp2 NA18952.hp2 NA18964.hp2 NA18979.hp2 NA19009.hp1	a0004 a0020 a0004 a0020	a0004c0006 a0020c0039 a0004c0006 a0020c0039	a0004c0006t0001 a0020c0039t0001 a0004c0006t0001 a0020c0039t0001	a0004c0006t0001g0031 a0004c0006t0001g0040 a0004c0006t0001g0041 others(2): Show a0004c0006t0001g0031 a0004c0006t0001g0040 a0004c0006t0001g0041 a0004c0006t0001g0044 a0020c0039t0001g0046	5	378	0.0132	-54	c.707 others(71): Show c.707+1038_707+1091delTCATTCCTCGTCGTCCCCTCATTCCTCG TCCTCCCCGCATTCCTCGTCCTCCCC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOT1L_chr19_2158933_2237578	2201103	GCATTCCT others(47): Show GCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCCGCATTCCTCGTCCT CCCCT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp2 HG02723.hp1 others(6): Show HG02257.hp1 HG02622.hp2 HG02723.hp1 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp2 HG06807.hp1 NA19030.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0012	a0001c0001 a0002c0004 a0002c0041 others(3): Show a0001c0001 a0002c0004 a0002c0041 a0005c0013 a0005c0034 a0012c0044	a0001c0001t0001 a0002c0004t0003 a0002c0004t0015 others(4): Show a0001c0001t0001 a0002c0004t0003 a0002c0004t0015 a0002c0041t0003 a0005c0013t0011 a0005c0034t0011 a0012c0044t0022	a0001c0001t0001g0094 a0001c0001t0001g0098 a0002c0004t0003g0087 others(6): Show a0001c0001t0001g0094 a0001c0001t0001g0098 a0002c0004t0003g0087 a0002c0004t0015g0315 a0002c0041t0003g0093 a0005c0013t0011g0095 a0005c0013t0011g0096 a0005c0034t0011g0097 a0012c0044t0022g0233	9	378	0.0238	-54	c.707 others(71): Show c.707+1200_707+1253delGCATTCCTCGTCCTCCCCTCATTCCTCG TCCTCCCCGCATTCCTCGTCCTCCCC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPH7_chr9_137549444_137583925	137568262	TCTGTGAG others(47): Show TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01884.hp1 others(13): Show HG00280.hp1 HG00621.hp1 HG01884.hp1 HG02738.hp2 HG02809.hp1 HG02976.hp2 HG03041.hp2 HG03453.hp1 HG03491.hp2 HG03579.hp1 NA18951.hp1 NA18990.hp2 NA19007.hp2 NA19080.hp2 NA19086.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0002 a0001c0001 a0001c0012 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 a0002c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0144 others(12): Show a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0214 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0002g0003 a0001c0001t0002g0268 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0303 a0001c0001t0002g0308 a0001c0012t0001g0316 a0002c0002t0001g0238	16	340	0.0471	-54	c.641 others(71): Show c.641-3162_641-3109delTCACCCAGGGGAGCTTCCTCACAGACAG AGTCACCCAGGGGAGCTTCCTCACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPP9_chr19_4670227_4728842	4672114	TATATTCA others(47): Show TATATTCATATATATGAATATATATTCATATATTCATATATATGAATATA TATTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0234 a0001c0001t0017g0234	1	314	0.0032	-54	c.43 others(65): Show c.4396_*4449delGAATATATATTCATATATATGAATATATGAATAT ATATTCATATATATGAATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3112		chr19	TogoVar
DPYSL4_chr10_132181948_132210759	132191847	TGTTCCCA others(47): Show TGTTCCCAGCTCGTGTGTACACGCTGGTCATGTGGTATCCAGGCAGATGA ACATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0183 a0001c0004t0011g0183	1	418	0.0024	-54	c.129 others(69): Show c.129-781_129-728delTGTGGTATCCAGGCAGATGAACATAGTTCC CAGCTCGTGTGTACACGCTGGTCA	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132192011	TGTTCCCA others(47): Show TGTTCCCAGCTCGTGTGTACACGCTGGTCACGTGGTATCCAGGCAGGTGA AAATA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19084.hp2 HG00621.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0153 a0001c0001t0006g0121 a0001c0001t0001g0153 a0001c0001t0006g0121	2	418	0.0048	-54	c.129 others(69): Show c.129-635_129-582delGTGTGTACACGCTGGTCACGTGGTATCCAG GCAGGTGAAAATAGTTCCCAGCTC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
DRD3_chr3_114122580_114184052	114156715	GTCTTTCT others(47): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTCTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02896.hp1 HG02897.hp2 others(1): Show HG02055.hp1 HG02896.hp1 HG02897.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0012 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0001g0012 a0001c0002t0003g0295 a0001c0002t0003g0296	4	360	0.0111	-54	c.383 others(71): Show c.383+2986_383+3039delAAGAAAGAAAGAAAGAAAGAAAGAAAAA GAAAGAAAGAAAGAAAGAAAGAAAGA	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6			chr3	TogoVar
DUSP2_chr2_96138169_96150440	96138570	CCTCCACC others(47): Show CCTCCACCTGCAGCCCCGCCCCAACCACCTCCACCTGCAGCCCCGCCCCA ACCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 NA19074.hp2 HG03486.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	422	0.0047	-54	c.51 others(65): Show c.5199_*5252delATGGTTGGGGCGGGGCTGCAGGTGGAGGTGGTTG GGGCGGGGCTGCAGGTGGAG	DUSP2	ENSG00000158050.5	transcript	ENST00000288943.5	protein_coding		4598		chr2	TogoVar
DYNC2I1_chr7_158851558_158951189	158878112	GGGGAGGC others(47): Show GGGGAGGCGAGGAGGGGAGGCCAGGAGGGCTGACTGTGAGTGCTGGGCAT CATGT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0023 a0003c0031t0023	a0003c0031t0023g0237 a0003c0031t0023g0237	1	274	0.0037	-54	c.573 others(71): Show c.573+1425_573+1478delAGGCGAGGAGGGGAGGCCAGGAGGGCTG ACTGTGAGTGCTGGGCATCATGTGGG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EDARADD_chr1_236389286_236489930	236401334	AGGCCAGG others(47): Show AGGCCAGGAAGTCCTGACATACTTCCTTGTTTTCTCTGAAAGGACATCTT TAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	294	0.0034	-54	c.61+ others(69): Show c.61+6830_61+6883delGGCCAGGAAGTCCTGACATACTTCCTTGTT TTCTCTGAAAGGACATCTTTAGAG	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5			chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405154	CTAAAAGT others(47): Show CTAAAAGTAGTGCCTTTCCCAGTTCCCCTCTCACTTCATTGTTGTGCTTC AGAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0228 a0002c0002t0006g0228	1	294	0.0034	-54	c.62- others(69): Show c.62-4061_62-4008delTAAAAGTAGTGCCTTTCCCAGTTCCCCTCT CACTTCATTGTTGTGCTTCAGAAA	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5			chr1	TogoVar
EDAR_chr2_108889471_108994220	108925082	GATTGGTC others(47): Show GATTGGTCCCGCTCCTGGGCTGGGAGGCCCTCCAGGGCAAGCCTTGTTCA CGTCT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03225.hp2 HG02280.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0016 a0001c0002t0005 a0001c0002t0016	a0001c0002t0005g0191 a0001c0002t0016g0127 a0001c0002t0005g0191 a0001c0002t0016g0127	2	226	0.0089	-54	c.357 others(71): Show c.357-1683_357-1630delAGACGTGAACAAGGCTTGCCCTGGAGGG CCTCCCAGCCCAGGAGCGGGACCAAT	EDAR	ENSG00000135960.10	transcript	ENST00000258443.7	protein_coding	4/11			chr2	TogoVar
EFCAB13_chr17_47318955_47446312	47423607	CCGCGCGC others(47): Show CCGCGCGCCCCGGTCCATTGTTTCGCTTCTCTGGGTTCCAGGTAGGTGCG GGCGG	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0274 a0005c0005t0001g0274	1	356	0.0028	-54	c.249 others(73): Show c.2495-6204_2495-6151delCCCCGGTCCATTGTTTCGCTTCTCTG GGTTCCAGGTAGGTGCGGGCGGCGCGCG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFHC1_chr6_52415342_52502198	52472636	TCATACAA others(47): Show TCATACAAGAGATATGTAATATCTTTTACATACAAGAGATATGTAATATC TTTTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01099.hp1 others(26): Show HG00735.hp1 HG01069.hp2 HG01099.hp1 HG01175.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03516.hp1 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA19240.hp1 NA21309.hp2	a0003 a0008 a0010 a0003 a0008 a0010	a0003c0002 a0008c0009 a0010c0013 a0003c0002 a0008c0009 a0010c0013	a0003c0002t0021 a0003c0002t0024 a0003c0002t0027 others(21): Show a0003c0002t0021 a0003c0002t0024 a0003c0002t0027 a0003c0002t0033 a0003c0002t0034 a0003c0002t0037 a0003c0002t0043 a0003c0002t0048 a0003c0002t0053 a0003c0002t0055 a0003c0002t0058 a0003c0002t0063 a0003c0002t0064 a0003c0002t0067 a0003c0002t0068 a0003c0002t0071 a0003c0002t0078 a0003c0002t0079 a0003c0002t0080 a0003c0002t0086 a0003c0002t0090 a0008c0009t0091 a0008c0009t0093 a0010c0013t0004	a0003c0002t0021g0305 a0003c0002t0021g0306 a0003c0002t0024g0009 others(26): Show a0003c0002t0021g0305 a0003c0002t0021g0306 a0003c0002t0024g0009 a0003c0002t0024g0142 a0003c0002t0027g0009 a0003c0002t0033g0009 a0003c0002t0033g0146 a0003c0002t0034g0208 a0003c0002t0034g0216 a0003c0002t0037g0149 a0003c0002t0043g0144 a0003c0002t0043g0145 a0003c0002t0048g0307 a0003c0002t0053g0209 a0003c0002t0055g0214 a0003c0002t0058g0147 a0003c0002t0063g0141 a0003c0002t0064g0213 a0003c0002t0067g0215 a0003c0002t0068g0009 a0003c0002t0071g0148 a0003c0002t0078g0211 a0003c0002t0079g0212 a0003c0002t0080g0210 a0003c0002t0086g0071 a0003c0002t0090g0114 a0008c0009t0091g0280 a0008c0009t0093g0278 a0010c0013t0004g0143	29	396	0.0732	-54	c.127 others(73): Show c.1278+3236_1278+3289delTATCTTTTACATACAAGAGATATGTA ATATCTTTTACATACAAGAGATATGTAA	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
EFNA5_chr5_107371894_107675937	107405920	CAAATACA others(47): Show CAAATACATATATTTGTATACATATTCTATGTATTTATATACATAGAATG TATAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02818.hp2 others(3): Show HG02055.hp1 HG02055.hp2 HG02818.hp2 HG02922.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0028 a0001c0001t0052 others(2): Show a0001c0001t0020 a0001c0001t0028 a0001c0001t0052 a0001c0001t0090 a0001c0001t0097	a0001c0001t0020g0060 a0001c0001t0028g0087 a0001c0001t0028g0101 others(3): Show a0001c0001t0020g0060 a0001c0001t0028g0087 a0001c0001t0028g0101 a0001c0001t0052g0108 a0001c0001t0090g0039 a0001c0001t0097g0027	6	190	0.0316	-54	c.419 others(73): Show c.419-18203_419-18150delTTATACATTCTATGTATATAAATACA TAGAATATGTATACAAATATATGTATTT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107405927	ATATATTT others(47): Show ATATATTTGTATACATATTCTATGTATTTATATACATAGAATGTATAAAA ATACC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(63): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG02109.hp2 HG02155.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp2 NA18906.hp2 NA18950.hp1 NA18956.hp2 NA18982.hp2 NA18983.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19056.hp1 NA19070.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(39): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0058 a0001c0001t0060 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0089 a0001c0001t0092 a0001c0001t0096	a0001c0001t0002g0144 a0001c0001t0002g0165 a0001c0001t0003g0019 others(63): Show a0001c0001t0002g0144 a0001c0001t0002g0165 a0001c0001t0003g0019 a0001c0001t0003g0049 a0001c0001t0003g0066 a0001c0001t0003g0070 a0001c0001t0003g0080 a0001c0001t0003g0126 a0001c0001t0003g0130 a0001c0001t0003g0148 a0001c0001t0003g0179 a0001c0001t0003g0183 a0001c0001t0003g0189 a0001c0001t0005g0051 a0001c0001t0005g0065 a0001c0001t0005g0147 a0001c0001t0007g0047 a0001c0001t0007g0119 a0001c0001t0007g0142 a0001c0001t0007g0146 a0001c0001t0009g0143 a0001c0001t0009g0174 a0001c0001t0009g0182 a0001c0001t0011g0038 a0001c0001t0012g0079 a0001c0001t0015g0181 a0001c0001t0016g0035 a0001c0001t0016g0053 a0001c0001t0017g0156 a0001c0001t0017g0180 a0001c0001t0021g0118 a0001c0001t0021g0160 a0001c0001t0022g0059 a0001c0001t0022g0114 a0001c0001t0023g0057 a0001c0001t0023g0155 a0001c0001t0025g0164 a0001c0001t0027g0067 a0001c0001t0027g0117 a0001c0001t0030g0042 a0001c0001t0032g0002 a0001c0001t0037g0129 a0001c0001t0038g0024 a0001c0001t0039g0006 a0001c0001t0044g0082 a0001c0001t0045g0026 a0001c0001t0047g0086 a0001c0001t0048g0011 a0001c0001t0049g0009 a0001c0001t0050g0111 a0001c0001t0058g0094 a0001c0001t0060g0088 a0001c0001t0065g0048 a0001c0001t0066g0166 a0001c0001t0068g0188 a0001c0001t0072g0014 a0001c0001t0073g0085 a0001c0001t0074g0031 a0001c0001t0075g0168 a0001c0001t0078g0096 a0001c0001t0079g0187 a0001c0001t0080g0106 a0001c0001t0081g0093 a0001c0001t0089g0030 a0001c0001t0092g0023 a0001c0001t0096g0062	66	190	0.3474	-54	c.419 others(73): Show c.419-18210_419-18157delGGTATTTTTATACATTCTATGTATAT AAATACATAGAATATGTATACAAATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EIF4A1_chr17_7567825_7584006	7571858	TATATATA others(47): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 NA18947.hp1 HG02683.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0001 a0001c0001t0001g0046	2	436	0.0046	-54	c.-98 others(63): Show c.-983_-930delATATATATATATATATATATATATATATATATATAT ATATATATATATATAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		966		chr17	TogoVar
ELF2_chr4_139052265_139182218	139092366	TCATAACG others(47): Show TCATAACGTAACATAACATAACATAACATAACATAACATAACATAACATA CATAA	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA20905.hp2 HG04199.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0336 a0001c0001t0002g0062 a0001c0001t0002g0336	2	342	0.0059	-54	c.239 others(73): Show c.239-18853_239-18800delTTATGTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTACGTTATG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELFN1_chr7_1665277_1752946	1719232	GCCACCAA others(47): Show GCCACCAACAGGGCCCCGCCCACCAACAGGACCCAAGCCACCAACAGGGC CCCGC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0058 a0001c0028t0058	a0001c0028t0058g0038 a0001c0028t0058g0038	1	302	0.0033	-54	c.-29 others(75): Show c.-294+10085_-294+10138delCCGCCCACCAACAGGGCCCCGCCC ACCAACAGGACCCAAGCCACCAACAGGGCC	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELOVL5_chr6_53262404_53353950	53306258	GGGAGAGG others(47): Show GGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGG GGAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	320	0.0031	-54	c.-8- others(71): Show c.-8-10605_-8-10552delTCTCCCCTCTCCCCTCTCCCCTCTCCCC TCTCCCCTCTCCCCTCTCCCCTCTCC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
EMD_chrX_154374295_154386523	154377761	GGAGGCTG others(47): Show GGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGA GAGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	284	0.0035	-54	c.-17 others(65): Show c.-1723_-1670delGAGGCTGAGACAGGAGAATCACTTGAACCCGGGA GGTGGAGGCTACAGAGAGCC	EMD	ENSG00000102119.12	transcript	ENST00000369842.9	protein_coding		1533		chrX	TogoVar
EML5_chr14_88607431_88797953	88796209	ATTATATA others(47): Show ATTATATATATATTATATGTTATATATATTATATATATTATATATATATT ATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00609.hp2 others(57): Show HG00099.hp2 HG00280.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01243.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02523.hp2 HG02976.hp1 HG03041.hp1 HG03490.hp2 HG03579.hp1 HG03927.hp1 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18974.hp1 NA18978.hp2 NA18983.hp1 NA18994.hp2 NA19002.hp1 NA19004.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0009 a0012	a0001c0001 a0002c0002 a0002c0004 others(3): Show a0001c0001 a0002c0002 a0002c0004 a0005c0016 a0009c0015 a0012c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0022 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0022 a0001c0001t0024 a0001c0001t0036 a0002c0002t0001 a0002c0002t0006 a0002c0002t0021 a0002c0002t0037 a0002c0004t0001 a0005c0016t0001 a0009c0015t0001 a0012c0013t0001	a0001c0001t0001g0280 a0001c0001t0006g0285 a0001c0001t0022g0203 others(57): Show a0001c0001t0001g0280 a0001c0001t0006g0285 a0001c0001t0022g0203 a0001c0001t0022g0204 a0001c0001t0024g0206 a0001c0001t0024g0207 a0001c0001t0036g0205 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0200 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0238 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0291 a0002c0002t0006g0237 a0002c0002t0021g0273 a0002c0002t0037g0262 a0002c0004t0001g0228 a0002c0004t0001g0234 a0002c0004t0001g0240 a0002c0004t0001g0241 a0002c0004t0001g0242 a0005c0016t0001g0272 a0009c0015t0001g0268 a0012c0013t0001g0247	60	332	0.1807	-54	c.-37 others(65): Show c.-3760_-3707delCATATAATATATATATAATATATATAATATATAT AACATATAATATATATATAA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3257		chr14	TogoVar
ENOSF1_chr18_665318_717630	666969	TGATGGAG others(47): Show TGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAG ATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 NA18939.hp1 HG03239.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0007 a0001c0001t0002 a0001c0003t0007	a0001c0001t0002g0076 a0001c0003t0007g0276 a0001c0001t0002g0076 a0001c0003t0007g0276	2	418	0.0048	-54	c.72 others(65): Show c.7282_*7335delTCCATCTCCATCACCATCACCATCTCCATCACCA TCACCATCTCCATCTCCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3348		chr18	TogoVar
ENOSF1_chr18_665318_717630	666975	AGATGGAG others(47): Show AGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAG ATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	418	0.0024	-54	c.72 others(65): Show c.7276_*7329delACCATCTCCATCTCCATCACCATCACCATCTCCA TCACCATCACCATCTCCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3342		chr18	TogoVar
ENOSF1_chr18_665318_717630	667475	TGATGGTG others(47): Show TGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTG ATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0158 a0002c0005t0001g0158	1	418	0.0024	-54	c.67 others(65): Show c.6776_*6829delTCCATCACCATCACCATCACCATCACCATCTCCA TCACCATCACCATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2842		chr18	TogoVar
ENOSF1_chr18_665318_717630	712356	GTACCATG others(47): Show GTACCATGGCGTCCGCGCTTACCATGGCGTCCGCGCTTACCATGGCGTCC GCGCT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02976.hp1 HG04204.hp1 others(1): Show HG00735.hp1 HG02976.hp1 HG04204.hp1 NA18985.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0031 a0001c0001t0001 a0001c0003t0001 a0002c0002t0031	a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0003t0001g0340 others(1): Show a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0003t0001g0340 a0002c0002t0031g0337	4	418	0.0096	-54	c.84+ others(66): Show c.84+94_84+147delAGCGCGGACGCCATGGTAAGCGCGGACGCCATG GTAAGCGCGGACGCCATGGTA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15			chr18	TogoVar
ENOX2_chrX_130617325_130908209	130632140	CTAAAAAT others(47): Show CTAAAAATTAGAGCTTATATTCCACTGACAGTTAATCAACTGTTGGTTTT TGAAA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19062.hp1 NA19070.hp1 HG02074.hp1 NA19062.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0063 a0001c0001t0001g0094 a0001c0001t0001g0096	3	154	0.0195	-54	c.142 others(71): Show c.1420-618_1420-565delTTTCAAAAACCAACAGTTGATTAACTGT CAGTGGAATATAAGCTCTAATTTTTA	ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	12/14			chrX	TogoVar
EPS15_chr1_51349263_51524266	51522061	GTTTAGAA others(47): Show GTTTAGAAGCACAACTTCTAATGTTCAGTAAGTACATTATAAAAGTTTGT TGAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0049 a0001c0002t0003g0049	1	152	0.0066	-54	c.-28 others(65): Show c.-2884_-2831delATTCAACAAACTTTTATAATGTACTTACTGAACA TTAGAAGTTGTGCTTCTAAA	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding		2796		chr1	TogoVar

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