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	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
DLGAP1_chr18_3491032_4460307	3833130	ATTCCTTC others(41): Show ATTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(13): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG01192.hp2 HG01433.hp2 HG02135.hp2 HG02451.hp1 HG02622.hp2 HG02895.hp1 HG03098.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG04184.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0039 a0001c0003t0015 a0001c0003t0033 a0001c0004t0002 a0001c0005t0005 a0001c0005t0006 a0001c0005t0009 a0001c0008t0025 a0002c0007t0016	a0001c0001t0001g0005 a0001c0001t0002g0008 a0001c0001t0003g0071 others(13): Show a0001c0001t0001g0005 a0001c0001t0002g0008 a0001c0001t0003g0071 a0001c0001t0004g0016 a0001c0001t0006g0002 a0001c0001t0007g0028 a0001c0001t0039g0056 a0001c0003t0015g0078 a0001c0003t0033g0077 a0001c0004t0002g0025 a0001c0004t0002g0031 a0001c0005t0005g0038 a0001c0005t0006g0030 a0001c0005t0009g0051 a0001c0008t0025g0049 a0002c0007t0016g0066	16	17	0.9412	-48	c.958 others(67): Show c.958-18905_958-18858delGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAA		DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	4/12						chr18	TogoVar
DLGAP2_chr8_732628_1713476	1248400	GGGAGTGA others(41): Show GGGAGTGATGGCCCATGTTGGTGGCCGGCAAGACCTTTGACATCAGTGT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	-48	c.74- others(65): Show c.74-10448_74-10401delAGTGATGGCCCATGTTGGTGGCCGGCAA GACCTTTGACATCAGTGTGG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1257673	TGAGGGCC others(41): Show TGAGGGCCCGTGCAGGCCAGTGCTGGCGTGGAAGAGCCGGTGTCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	-48	c.74- others(63): Show c.74-1158_74-1111delTGCTGGCGTGGAAGAGCCGGTGTCCTCCCG AGGGCCCGTGCAGGCCAG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP4_chr20_36301339_36533633	36390823	CCCCAGAC others(41): Show CCCCAGACTGAGCCTTGACTTTGATCCCAGACTAAACCCTGACCCTGGT	C C	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	142	0.0070	-48	c.-73 others(67): Show c.-73+23562_-73+23609delTTGACTTTGATCCCAGACTAAACCCT GACCCTGGTCCCAGACTGAGCC		DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
DMD_chrX_31114222_33216549	31421904	CACACACA others(41): Show CACACACACACATATATATATATATATATACACACACACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp1 HG02976.hp2 HG03209.hp1	a0002 a0005 a0002 a0005	a0002c0025 a0005c0056 a0002c0025 a0005c0056	a0002c0025t0008 a0005c0056t0001 a0002c0025t0008 a0005c0056t0001	a0002c0025t0008g0108 a0005c0056t0001g0103 a0002c0025t0008g0108 a0005c0056t0001g0103	2	125	0.0160	-48	c.908 others(69): Show c.9084+22529_9084+22576delATATATATATGTGTGTGTGTATAT ATATATATATATATGTGTGTGTGT		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32452297	AGGAAAGG others(41): Show AGGAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGTGAAAGGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02723.hp2 others(2): Show HG02451.hp1 HG02647.hp1 HG02723.hp2 HG02922.hp1 HG02976.hp2	a0002 a0005 a0021 others(1): Show a0002 a0005 a0021 a0024	a0002c0005 a0005c0007 a0005c0056 others(2): Show a0002c0005 a0005c0007 a0005c0056 a0021c0060 a0024c0034	a0002c0005t0001 a0005c0007t0002 a0005c0056t0001 others(2): Show a0002c0005t0001 a0005c0007t0002 a0005c0056t0001 a0021c0060t0001 a0024c0034t0006	a0002c0005t0001g0088 a0005c0007t0002g0089 a0005c0056t0001g0103 others(2): Show a0002c0005t0001g0088 a0005c0007t0002g0089 a0005c0056t0001g0103 a0021c0060t0001g0113 a0024c0034t0006g0007	5	125	0.0400	-48	c.360 others(67): Show c.3603+2317_3603+2364delCTTTCCCTTTCACTTTCACTTTCACT TTCACTTTCACTTTCCCTTTCC		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78						chrX	TogoVar
DNAAF3_chr19_55153665_55171613	55160297	GACAGACA others(41): Show GACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0055 a0001c0004t0001g0055	1	396	0.0025	-48	c.104 others(65): Show c.1048+295_1049-285delGGGCCTCCTTCCAGCCATCCTCCAACCT GGCCCTCCCTGCGTGTCTGT		DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding	9/11						chr19	TogoVar
DNAAF6_chrX_107201611_107249247	107204721	TTTATTTA others(41): Show TTTATTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	268	0.0037	-48	c.-19 others(59): Show c.-1972_-1925delTTATTTAAATAAATTTTAAATAAATTATTTAAAT AAATTTTAAATAAA		DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding					1889		chrX	TogoVar
DNAAF6_chrX_107201611_107249247	107204821	TTTAAATA others(41): Show TTTAAATAAATTTTAAATAAATTATTTATTTAAATAAATTTTAAATAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	294	0.0034	-48	c.-18 others(59): Show c.-1872_-1825delTTAAATAAATTTTAAATAAATTATTTATTTAAAT AAATTTTAAATAAA		DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding					1789		chrX	TogoVar
DNAAF6_chrX_107201611_107249247	107204845	TTTATTTA others(41): Show TTTATTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02976.hp2 HG03130.hp1 others(3): Show HG02886.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp2 NA18980.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0001g0104 a0001c0001t0001g0105 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0004 a0001c0001t0002g0164	6	284	0.0211	-48	c.-18 others(59): Show c.-1848_-1801delTTATTTAAATAAATTTTAAATAAATTATTTAAAT AAATTTTAAATAAA		DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding					1765		chrX	TogoVar
DNAH14_chr1_224924675_225404286	225078795	TCTCTCTC others(41): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0178	1	237	0.0042	-48	c.242 others(65): Show c.2425-396_2425-349delTCTCTCTCTCTCTCCCTCTCTCTCTCTC TCTCCCTCTCTCTCTCTCTC		DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85					INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH17_chr17_78418697_78582396	78540879	ATGGGTGG others(41): Show ATGGGTGGATGGATGGGTGGGTGGGTGGGTGGGTGGGTGGATGGGTGGG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0137 a0137	a0137c0108 a0137c0108	a0137c0108t0001 a0137c0108t0001	a0137c0108t0001g0069 a0137c0108t0001g0069	1	211	0.0047	-48	c.253 others(67): Show c.2533-1047_2533-1000delCCCACCCATCCACCCACCCACCCACC CACCCACCCATCCATCCACCCA		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80						chr17	TogoVar
DNAH9_chr17_11593470_11974748	11941789	GATAGATA others(41): Show GATAGATAGATATTGTATATAACTGTATATTGATATACTGTATCTGGAT	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0174 a0001c0003t0001g0174	1	176	0.0057	-48	c.126 others(67): Show c.12661-454_12661-407delTTGTATATAACTGTATATTGATATAC TGTATCTGGATATAGATAGATA		DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	66/68					INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74301850	AGAAGGAA others(41): Show AGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18942.hp2 NA18977.hp2 others(2): Show HG02129.hp1 NA18942.hp2 NA18977.hp2 NA19011.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0084 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0084 a0001c0001t0001g0112 a0001c0001t0002g0365	5	374	0.0134	-48	c.987 others(63): Show c.987+742_987+789delAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAA		DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI4_chr1_66807885_66929856	66836196	GAAAGAAA others(41): Show GAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02976.hp1 HG01934.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0003 a0002c0002t0001g0013	2	258	0.0078	-48	c.158 others(65): Show c.1582-467_1582-420delTTCTTTCTTTCTCTCTCTCTCTCTCTCT CTCTCTCTCTTTCTTTCTTT		DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	10/16						chr1	TogoVar
DNAJC12_chr10_67791669_67843188	67819687	AAAGAAAG others(41): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGCAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03490.hp1 HG03195.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0003g0049 a0001c0001t0001g0005 a0001c0001t0003g0049	2	278	0.0072	-48	c.157 others(65): Show c.157+3579_157+3626delCCTTCCTTCCTTCCTTGCTTCCTTCCTT CCTTCCTTCCTTTCTTTCTT		DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4						chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819695	AAAGGAAG others(41): Show AAAGGAAGGAAGGAAGGAAGGAAGCAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	287	0.0070	-48	c.157 others(65): Show c.157+3571_157+3618delCCTTCCTTCCTTCCTTCCTTCCTTGCTT CCTTCCTTCCTTCCTTCCTT		DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4						chr10	TogoVar
DNAJC25_chr9_111626334_111659345	111641935	GGGGGGTT others(41): Show GGGGGGTTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01074.hp2 others(5): Show HG00733.hp2 HG00738.hp2 HG01074.hp2 HG01123.hp2 HG02738.hp2 HG03491.hp2 HG03942.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0001g0170 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0213	8	410	0.0195	-48	c.337 others(65): Show c.337-5166_337-5119delTTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGG		DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr9	TogoVar
DNMT3A_chr2_25222874_25346925	25300600	TATATCTA others(41): Show TATATCTAAATAATATATTATTTAGATATCTAAATAATATATTATTTAG	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0130 a0001c0005t0130	a0001c0005t0130g0123 a0001c0005t0130g0123	1	59	0.0169	-48	c.73- others(61): Show c.73-405_73-358delCTAAATAATATATTATTTAGATATCTAAATAA TATATTATTTAGATAT		DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding	2/22						chr2	TogoVar
DNMT3B_chr20_32757385_32814356	32812332	ACCACCCC others(41): Show ACCACCCCCCACATCCTGTAGAGATCCCAATGCTCCTTGCGAGGGTTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp2 others(129): Show HG00099.hp2 HG00423.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00741.hp1 HG01070.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18939.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp2 NA18983.hp2 NA18987.hp1 NA18998.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp2 NA19067.hp1 NA19079.hp2 NA19082.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0003c0018 a0004c0017 a0005c0014 a0007c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(16): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0002t0002 a0001c0003t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0013t0005 a0003c0018t0001 a0004c0017t0001 a0005c0014t0001 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(115): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0261 a0001c0001t0005g0081 a0001c0001t0005g0147 a0001c0001t0005g0254 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0006g0004 a0001c0001t0006g0019 a0001c0001t0007g0197 a0001c0001t0007g0198 a0001c0001t0011g0149 a0001c0001t0015g0004 a0001c0001t0016g0231 a0001c0001t0017g0204 a0001c0001t0018g0001 a0001c0002t0002g0011 a0001c0002t0002g0036 a0001c0002t0002g0051 a0001c0002t0002g0064 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0105 a0001c0003t0001g0139 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0008t0001g0100 a0001c0008t0001g0104 a0001c0008t0001g0107 a0001c0009t0001g0103 a0001c0009t0001g0106 a0001c0009t0001g0108 a0001c0010t0001g0171 a0001c0013t0005g0255 a0003c0018t0001g0181 a0004c0017t0001g0018 a0005c0014t0001g0016 a0007c0011t0001g0208	132	296	0.4459	-48	c.44 others(59): Show c.4430_*4477delCCACCCCCCACATCCTGTAGAGATCCCAATGCTC CTTGCGAGGGTTCC		DNMT3B	ENSG00000088305.19	transcript	ENST00000328111.6	protein_coding					2977		chr20	TogoVar
DNTTIP1_chr20_45786954_45816418	45800688	AAAAAAAA others(41): Show AAAAAAAATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02015.hp2 HG00438.hp2 HG02015.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	2	410	0.0049	-48	c.373 others(63): Show c.373-384_373-337delAAAAAATATATATATATATATATATATATA TATATATATATATATATA		DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
DNTTIP1_chr20_45786954_45816418	45800690	AAAAAATA others(41): Show AAAAAATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01981.hp2 HG02027.hp2 others(27): Show HG01943.hp2 HG01981.hp2 HG02027.hp2 HG02056.hp2 HG02080.hp2 HG02155.hp2 NA18747.hp1 NA18944.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18980.hp2 NA18987.hp2 NA18989.hp1 NA18994.hp2 NA19009.hp2 NA19056.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19080.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0012 a0002c0003t0001g0025 others(9): Show a0002c0003t0001g0003 a0002c0003t0001g0012 a0002c0003t0001g0025 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060	30	395	0.0759	-48	c.373 others(63): Show c.373-382_373-335delAAAATATATATATATATATATATATATATA TATATATATATATATATA		DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
DOC2B_chr17_137789_186650	166707	CGTAGTGA others(41): Show CGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTGTTCTTGAG	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0061 a0001c0002t0061	a0001c0002t0061g0078 a0001c0002t0061g0078	1	200	0.0050	-48	c.454 others(65): Show c.454-2551_454-2504delCTCAAGAACAGTGTCAGACCATGAGATC TCGTGAGACGTATTCACTAC		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DOC2B_chr17_137789_186650	168667	GTTCTTGA others(41): Show GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACTC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01070.hp1 others(26): Show HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG02056.hp2 HG02080.hp1 HG02280.hp2 HG02293.hp2 HG02622.hp1 HG03017.hp1 HG03130.hp1 HG03239.hp1 HG03669.hp1 NA18906.hp1 NA18945.hp2 NA18951.hp1 NA18967.hp2 NA18982.hp1 NA18986.hp2 NA19010.hp1 NA19078.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0062 a0001c0002t0031	a0001c0001t0001g0005 a0001c0001t0001g0093 a0001c0001t0001g0131 others(24): Show a0001c0001t0001g0005 a0001c0001t0001g0093 a0001c0001t0001g0131 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0289 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0179 a0001c0001t0002g0216 a0001c0001t0002g0244 a0001c0001t0017g0043 a0001c0001t0018g0294 a0001c0001t0021g0191 a0001c0001t0062g0135 a0001c0002t0031g0208	29	338	0.0858	-48	c.453 others(65): Show c.453+3822_453+3869delGAGTGTCAGACCATGAGATCTCGTGAGA CGTATTCACTACCTCAAGAA		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DOCK10_chr2_224760090_225047468	225016523	ATGCACAT others(41): Show ATGCACATAGATACATATATCTATATGCACATAGATACATATATCTATG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0105 a0002c0009t0003g0105	1	170	0.0059	-48	c.123 others(67): Show c.123+25681_123+25728delCATAGATATATGTATCTATGTGCATA TAGATATATGTATCTATGTGCA		DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55						chr2	TogoVar
DOCK10_chr2_224760090_225047468	225035588	AACACTGA others(41): Show AACACTGAATCAGTGTTAATTGTGTGTTGTATTAGTCAGTGCGGGCTGC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0055 a0002c0003t0002g0055	1	169	0.0059	-48	c.123 others(65): Show c.123+6616_123+6663delGCAGCCCGCACTGACTAATACAACACAC AATTAACACTGATTCAGTGT		DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55						chr2	TogoVar
DOCK3_chr3_50669927_51389198	50670661	TGTGTTAA others(41): Show TGTGTTAACTTTATCTTTTTTTTTTTTTCAGACACATTCTCACTTTGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	210	0.0048	-48	c.-46 others(59): Show c.-4602_-4555delGTGTTAACTTTATCTTTTTTTTTTTTTCAGACAC ATTCTCACTTTGTC		DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding					4265		chr3	TogoVar
DOCK3_chr3_50669927_51389198	51016048	TATATATC others(41): Show TATATATCATATATTTCTACATAATATATATCATATATTTCTACATATG	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	210	0.0095	-48	c.316 others(67): Show c.316-48393_316-48346delCATATATTTCTACATAATATATATCA TATATTTCTACATATGATATAT		DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52					INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK4_chr7_111721110_112211399	112066676	CATATATA others(41): Show CATATATACATATACATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	81	0.0123	-48	c.38- others(65): Show c.38-62593_38-62546delATATATATATATATATATATATATATAT ATATATGTATATGTATATAT		DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	1/52						chr7	TogoVar
DOCK8_chr9_209865_470255	400644	TCACCACC others(41): Show TCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0100 a0002c0100	a0002c0100t0004 a0002c0100t0004	a0002c0100t0004g0031 a0002c0100t0004g0031	1	208	0.0048	-48	c.323 others(67): Show c.3234+1396_3234+1443delTCCACCACCACCAGCATCTTCACCAT CACCACCACCTCCACCACCACC		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK5_chr20_54470593_54656169	54486325	GATATGTC others(41): Show GATATGTCTATATATGTCTATATATGTCTGTATTTGTATATATAGACAT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0059 a0001c0001t0024g0059	1	119	0.0084	-48	c.66+ others(65): Show c.66+10332_66+10379delATATATGTCTGTATTTGTATATATAGAC ATATATGTCTATATATGTCT		DOK5	ENSG00000101134.12	transcript	ENST00000262593.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr20	TogoVar
DONSON_chr21_33572551_33593684	33577604	TACACACA others(41): Show TACACACACACACACACACACACACACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 NA18906.hp1 NA20805.hp2 HG02615.hp1 NA18906.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0106 a0001c0001t0001g0225 a0001c0001t0001g0037 a0001c0001t0001g0106 a0001c0001t0001g0225	3	74	0.0405	-48	c.65 others(57): Show c.655_*702delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT		DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10				655		chr21	TogoVar
DPEP2NB_chr16_68008436_68020911	68020799	ACATATAT others(41): Show ACATATATATATATACGTATATATATGTATGTGTATATATATATATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03225.hp2 NA19240.hp2 HG03041.hp2 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0018 a0001c0001t0001g0026	3	360	0.0083	-48	c.-50 others(59): Show c.-5077_-5030delCGTATATATATATATACACATACATATATATACG TATATATATATATG		DPEP2NB	ENSG00000263201.1	transcript	ENST00000574912.1	protein_coding					4889		chr16	TogoVar
DPP9_chr19_4670227_4728842	4672111	TTATATAT others(41): Show TTATATATTCATATATATGAATATATATTCATATATTCATATATATGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	170	0.0059	-48	c.44 others(59): Show c.4405_*4452delTTCATATATATGAATATATGAATATATATTCATA TATATGAATATATA		DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding					3115		chr19	TogoVar
DPP9_chr19_4670227_4728842	4672249	ATATTCAT others(41): Show ATATTCATATATATGAATATATATATTAATATATTCATATATATATACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02622.hp2 others(3): Show HG01243.hp1 HG02451.hp2 HG02622.hp2 HG02818.hp2 HG03041.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0002g0260 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0002g0260 a0001c0001t0005g0007 a0001c0001t0005g0025 a0001c0001t0005g0026	6	309	0.0194	-48	c.42 others(59): Show c.4267_*4314delAGTATATATATATGAATATATTAATATATATATT CATATATATGAATA		DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding					2977		chr19	TogoVar
DPY30_chr2_32018905_32044805	32043266	TAGAGACC others(41): Show TAGAGACCAGCCTGGCCAATATGGTGAAACCTTGTCTCTACTAAAAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	382	0.0026	-48	c.-36 others(59): Show c.-3618_-3571delTATTTTTAGTAGAGACAAGGTTTCACCATATTGG CCAGGCTGGTCTCT		DPY30	ENSG00000162961.14	transcript	ENST00000342166.10	protein_coding					3462		chr2	TogoVar
DRC7_chr16_57689806_57736805	57729170	GTGGGTGG others(41): Show GTGGGTGGGTAGATGGATGAATGGATGGATGGGTGGATGGATGAATGGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02083.hp1 HG00609.hp2 HG02083.hp1	a0012 a0015 a0012 a0015	a0012c0024 a0015c0032 a0012c0024 a0015c0032	a0012c0024t0007 a0015c0032t0004 a0012c0024t0007 a0015c0032t0004	a0012c0024t0007g0323 a0015c0032t0004g0131 a0012c0024t0007g0323 a0015c0032t0004g0131	2	386	0.0052	-48	c.239 others(65): Show c.2391+589_2391+636delGGTGGGTAGATGGATGAATGGATGGATG GGTGGATGGATGAATGGATG		DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr16	TogoVar
DRD4_chr11_632269_645706	640056	TCCCCGGG others(41): Show TCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	420	0.0024	-48	c.812 others(55): Show c.812_859delGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCC AGCCTCCCCC	p.Arg others(13): Show p.Arg271_Pro286del	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	848/1399	812/1260	271/419		INFO_REALIGN_3_PRIME	chr11	TogoVar
DRD4_chr11_632269_645706	640065	TCCCTGCG others(41): Show TCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01346.hp1 NA19087.hp1 NA19091.hp1 HG01346.hp1 NA19087.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0015 a0001c0002 a0002c0015	a0001c0002t0001 a0002c0015t0001 a0001c0002t0001 a0002c0015t0001	a0001c0002t0001g0001 a0002c0015t0001g0001 a0001c0002t0001g0001 a0002c0015t0001g0001	3	420	0.0071	-48	c.841 others(55): Show c.841_888delGCCGCGCCCAGCCTCCCCCAGGACCCCTGCGGCCCCGA CTGTGCGCCC	p.Ala others(13): Show p.Ala281_Pro296del	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	877/1399	841/1260	281/419		INFO_REALIGN_3_PRIME	chr11	TogoVar
DTD1_chr20_18583054_18771644	18708206	TTTTATAT others(41): Show TTTTATATATATAATATATATATATTTTATATATATATAATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01257.hp1 others(4): Show HG00280.hp2 HG00741.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0021 a0001c0001t0005g0022 others(4): Show a0001c0001t0005g0019 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0036	7	394	0.0178	-48	c.478 others(67): Show c.478-35892_478-35845delTTATATATATAATATATATATATTTT ATATATATATAATATATATTAT		DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
DTNB_chr2_25372243_25678577	25634236	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	166	0.0060	-48	c.148 others(65): Show c.148+4730_148+4777delACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCC		DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	3/20						chr2	TogoVar
DTNB_chr2_25372243_25678577	25634345	CCCCCCGC others(41): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	166	0.0060	-48	c.148 others(65): Show c.148+4621_148+4668delCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGG		DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	3/20						chr2	TogoVar
DTX2_chr7_76456709_76510991	76491896	AACTCCTG others(41): Show AACTCCTGGCCTCAAGTGATCCTCCCACCTCATCCTCCCAAAGTGCTGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0124 a0005c0006t0001g0124	1	278	0.0036	-48	c.909 others(63): Show c.909-256_909-209delACTCCTGGCCTCAAGTGATCCTCCCACCTC ATCCTCCCAAAGTGCTGG		DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10						chr7	TogoVar
DUS2_chr16_68018284_68084320	68020799	ACATATAT others(41): Show ACATATATATATATACGTATATATATGTATGTGTATATATATATATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03225.hp2 NA19240.hp2 HG03041.hp2 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015	3	232	0.0129	-48	c.-26 others(59): Show c.-2650_-2603delCATATATATATATACGTATATATATGTATGTGTA TATATATATATACG		DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding					2484		chr16	TogoVar
DVL1_chr1_1330278_1354418	1350875	CTGGACGG others(41): Show CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	342	0.0029	-48	c.-18 others(59): Show c.-1858_-1811delCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGC TCCTGCCCCGTCCA		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding					1458		chr1	TogoVar
DYM_chr18_49031387_49465645	49080105	CGGGGGGC others(41): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01071.hp2 others(10): Show HG00099.hp2 HG00741.hp2 HG01071.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01975.hp2 HG03579.hp1 NA18991.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0006 a0004c0010 a0001c0001 a0002c0006 a0004c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0002c0006t0006 a0004c0010t0023	a0001c0001t0002g0214 a0001c0001t0004g0136 a0001c0001t0004g0168 others(10): Show a0001c0001t0002g0214 a0001c0001t0004g0136 a0001c0001t0004g0168 a0001c0001t0004g0190 a0001c0001t0006g0158 a0001c0001t0006g0169 a0001c0001t0006g0172 a0001c0001t0006g0187 a0001c0001t0013g0070 a0001c0001t0013g0093 a0001c0001t0013g0098 a0002c0006t0006g0157 a0004c0010t0023g0009	13	279	0.0466	-48	c.202 others(69): Show c.2025+17249_2025+17296delCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCC		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17						chr18	TogoVar
DYM_chr18_49031387_49465645	49080563	CGGACGGG others(41): Show CGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp1 HG02970.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0030 a0001c0001t0004 a0001c0001t0030	a0001c0001t0004g0132 a0001c0001t0030g0133 a0001c0001t0004g0132 a0001c0001t0030g0133	2	288	0.0069	-48	c.202 others(69): Show c.2025+16791_2025+16838delAGGAGGGAGGTGGGGGGGTCAGCC CCCGCCCGGCCAGCCGCCCCGTCC		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17						chr18	TogoVar
EBF2_chr8_25836725_26050413	26002872	GGGCAGGC others(41): Show GGGCAGGCGGGCAGGCGGGCAGGCAGGCGGGCAGGCGGGCAGGCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG04115.hp1 HG01255.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0118 a0001c0001t0002g0119	2	214	0.0093	-48	c.551 others(67): Show c.551+30165_551+30212delTGCCCGCCTGCCCGCCTGCCCGCCTG CCTGCCCGCCTGCCCGCCTGCC		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15						chr8	TogoVar
EBF2_chr8_25836725_26050413	26002880	GGGCAGGC others(41): Show GGGCAGGCGGGCAGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp1 HG01109.hp2 others(7): Show HG00323.hp1 HG01081.hp1 HG01109.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01884.hp1 HG02970.hp2 NA19003.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0031 a0001c0001t0042 a0001c0002t0001	a0001c0001t0002g0111 a0001c0001t0003g0180 a0001c0001t0006g0196 others(7): Show a0001c0001t0002g0111 a0001c0001t0003g0180 a0001c0001t0006g0196 a0001c0001t0031g0150 a0001c0001t0042g0220 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0001g0108 a0001c0002t0001g0127 a0001c0002t0001g0149	10	216	0.0463	-48	c.551 others(67): Show c.551+30157_551+30204delTGCCCGCCTGCCCGCCTGCCCGCCTG CCCGCCTGCCTGCCCGCCTGCC		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15						chr8	TogoVar
EBF2_chr8_25836725_26050413	26002896	AGGCGGGC others(41): Show AGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCAGGCAGGCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG02622.hp2 HG01081.hp2 HG02055.hp1 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0021 a0002c0003t0005 a0001c0001t0003 a0001c0001t0021 a0002c0003t0005	a0001c0001t0003g0207 a0001c0001t0021g0020 a0002c0003t0005g0102 a0001c0001t0003g0207 a0001c0001t0021g0020 a0002c0003t0005g0102	3	216	0.0139	-48	c.551 others(67): Show c.551+30141_551+30188delCGCCTGCCTGCCTGCCTGCCCGCCTG CCCGCCTGCCCGCCTGCCCGCC		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15						chr8	TogoVar

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