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
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 NA19010.hp1 HG02809.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0014 a0001c0001t0001g0001 a0001c0001t0002g0014	2	36	0.0556	42	c.-28 others(53): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCACACACACAC ACACACAC		DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding					2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG02165.hp1 HG01256.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	36	0.0556	42	c.-28 others(53): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCGCACACACACACAC ACACACAC		DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding					2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 NA19005.hp1 HG03669.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0002g0003 a0001c0001t0001g0017 a0001c0001t0002g0003	2	36	0.0556	42	c.-28 others(53): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCACACACACACACAC ACACACAC		DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding					2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 NA18943.hp1 HG02135.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	36	0.0556	42	c.-28 others(53): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCACACACACACACACAC ACACACAC		DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding					2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	35	0.0286	42	c.-28 others(53): Show c.-2845_-2844insGCATGCGCGCGCGCGCACACACACACACACACAC ACACACAC		DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding					2773		chr22	TogoVar
DGKB_chr7_14140049_14907751	14211296	A A	ATTTACTC others(35): Show ATTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03540.hp1 HG02886.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0057 a0001c0003t0005g0073 a0001c0003t0005g0057 a0001c0003t0005g0073	2	134	0.0149	42	c.212 others(63): Show c.2123-33146_2123-33145insATCACAAAACATGAGAGTAAAATC ACAAAACACGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14211447	A A	ATTTACTC others(35): Show ATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0012 a0001c0003t0004g0012	1	142	0.0070	42	c.212 others(63): Show c.2123-33338_2123-33297dupATCACAAAACATGAGAGTAAAATC ACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14211640	A A	ATTTACTC others(35): Show ATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03195.hp1 HG03225.hp1 HG01978.hp2 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0004 a0001c0004t0001 a0001c0003t0004 a0001c0004t0001	a0001c0003t0004g0009 a0001c0003t0004g0083 a0001c0004t0001g0103 a0001c0003t0004g0009 a0001c0003t0004g0083 a0001c0004t0001g0103	3	139	0.0216	42	c.212 others(63): Show c.2123-33490_2123-33489insATCACAAAACATGAGAGTAAAATC ACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14211982	A A	ATTTACTC others(35): Show ATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0058 a0001c0002t0003g0058	1	144	0.0069	42	c.212 others(63): Show c.2123-33832_2123-33831insATCACAAAACATGAGAGTAAAATC ACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14212047	T T	TTTTACTC others(35): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0081 a0001c0002t0003g0081	1	118	0.0085	42	c.212 others(63): Show c.2123-33897_2123-33896insTCACAAAACATGAGAGTAAATATC ACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14212386	T T	TTTTACTC others(35): Show TTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0033 a0004c0010t0033	a0004c0010t0033g0007 a0004c0010t0033g0007	1	126	0.0079	42	c.212 others(63): Show c.2123-34236_2123-34235insTCACAAAACATGAGAGTAAATATC ACAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25						chr7	TogoVar
DGKB_chr7_14140049_14907751	14567424	A A	ATTATATA others(35): Show ATTATATATATATAATTATATTATATATTATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	146	0.0068	42	c.177 others(61): Show c.1770+6787_1770+6788insATATATAAATATATAATATATAATAT AATTATATATATATAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	20/25						chr7	TogoVar
DGKD_chr2_233349494_233477098	233397028	C C	CAGAGTGA others(35): Show CAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00639.hp2 others(32): Show HG00323.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG01109.hp2 HG01346.hp2 HG01358.hp2 HG01884.hp1 HG02027.hp2 HG02083.hp1 HG02257.hp1 HG02257.hp2 HG02647.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG03688.hp1 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA19009.hp1 NA19011.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0003 a0001c0002t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0035 a0001c0003t0036 a0001c0003t0038 a0001c0004t0022 a0001c0004t0023 a0001c0004t0043 a0001c0014t0040	a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0002g0085 others(31): Show a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0002g0085 a0001c0001t0005g0130 a0001c0001t0010g0134 a0001c0001t0010g0135 a0001c0001t0010g0136 a0001c0001t0010g0137 a0001c0001t0010g0138 a0001c0002t0003g0005 a0001c0002t0003g0248 a0001c0002t0004g0127 a0001c0003t0005g0149 a0001c0003t0005g0157 a0001c0003t0005g0160 a0001c0003t0005g0161 a0001c0003t0005g0162 a0001c0003t0005g0169 a0001c0003t0007g0082 a0001c0003t0007g0084 a0001c0003t0007g0150 a0001c0003t0007g0151 a0001c0003t0007g0156 a0001c0003t0007g0158 a0001c0003t0007g0159 a0001c0003t0007g0163 a0001c0003t0035g0153 a0001c0003t0036g0131 a0001c0003t0038g0152 a0001c0004t0022g0001 a0001c0004t0023g0132 a0001c0004t0023g0133 a0001c0004t0043g0145 a0001c0014t0040g0004	35	293	0.1195	42	c.348 others(59): Show c.348+6545_348+6546insAGAGTGAGAGGACTCCAGAGGGGACCAG GGTGGCTGGTAGAG		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29						chr2	TogoVar
DGKD_chr2_233349494_233477098	233397213	G G	GTGCGAGA others(35): Show GTGCGAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG00323.hp2 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0036 a0001c0001t0005 a0001c0003t0036	a0001c0001t0005g0130 a0001c0003t0036g0131 a0001c0001t0005g0130 a0001c0003t0036g0131	2	334	0.0060	42	c.348 others(59): Show c.348+6730_348+6731insTGCGAGAGTGAGAGGACTCCAGAGGGGA CCAGGGTGGCTGGC		DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29						chr2	TogoVar
DGKG_chr3_186142201_186367234	186223011	C C	CTATATAT others(35): Show CTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0121 a0001c0002t0004g0121	1	15	0.0667	42	c.182 others(63): Show c.1827-11127_1827-11126insTATATATATATATATATATATATA TATATATATATATATATA		DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	20/24						chr3	TogoVar
DGKH_chr13_42043648_42247896	42053548	C C	CTATATAT others(35): Show CTATATATGTATATATATAACTATATATGTATATATATAACTA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	314	0.0032	42	c.192 others(59): Show c.192+4622_192+4663dupACTATATATATGTATATATATAACTATA TATGTATATATATA		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42181816	C C	CTGCTGGC others(35): Show CTGCTGGCAGCTGAGCTGCTGGTGCTGGCAGCTGAGCTGCTGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02630.hp2 NA18957.hp2 others(1): Show HG01074.hp2 HG02630.hp2 NA18957.hp2 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0068 a0001c0004t0014 a0001c0002t0001 a0001c0002t0068 a0001c0004t0014	a0001c0002t0001g0047 a0001c0002t0001g0079 a0001c0002t0068g0218 others(1): Show a0001c0002t0001g0047 a0001c0002t0001g0079 a0001c0002t0068g0218 a0001c0004t0014g0069	4	15	0.2667	42	c.153 others(61): Show c.1538+3856_1538+3897dupAGCTGAGCTGCTGGTGCTGGCAGCTG AGCTGCTGGTGCTGGC		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	13/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137472212	T T	TATATATG others(35): Show TATATATGTATATATACATATAATATATGTATATATACATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03540.hp2 HG02895.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0034 a0001c0004t0003 a0001c0002t0034 a0001c0004t0003	a0001c0002t0034g0009 a0001c0004t0003g0089 a0001c0002t0034g0009 a0001c0004t0003g0089	2	89	0.0225	42	c.237 others(61): Show c.2374-2594_2374-2593insTATATGTATATATACATATATTATAT GTATATATACATATAT		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32						chr7	TogoVar
DGKI_chr7_137376037_137851974	137638499	T T	TGTATATA others(35): Show TGTATATATATACACATATATACATATATGTGTATATATACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0001t0007g0060 a0001c0001t0007g0061	2	92	0.0217	42	c.804 others(59): Show c.804+6972_804+6973insGTGTATATATACACATATATGTATATAT GTGTATATATATAC		DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32						chr7	TogoVar
DHODH_chr16_72003744_72032659	72021263	G G	GACTAGCC others(35): Show GACTAGCCTGTCGTTCAGAATGAGTCCGAGCTGCCCACACTGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01975.hp2 HG01975.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0178 a0008c0007t0001g0178	1	412	0.0024	42	c.657 others(49): Show c.657_658insACTAGCCTGTCGTTCAGAATGAGTCCGAGCTGCCCACA CTGC	p.Gly others(55): Show p.Gly219_Leu220insThrSerLeuSerPheArgMetSerProSerCy sProHisCys	DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	5/9	679/4669	658/1188	220/395			chr16	TogoVar
DHODH_chr16_72003744_72032659	72021731	G G	GCACTGAT others(35): Show GCACTGATCCCGGGCTCATTCCTGTAATACCACACTATGGACC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0178 a0008c0007t0001g0178	1	412	0.0024	42	c.705 others(57): Show c.705+420_705+421insCACTGATCCCGGGCTCATTCCTGTAATACC ACACTATGGACC		DHODH	ENSG00000102967.12	transcript	ENST00000219240.9	protein_coding	5/8						chr16	TogoVar
DHRSX_chrX_2214506_2505976	2298606	A A	ACACACAC others(35): Show ACACACACACACACACACACACACACGCACACACACACACACG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0031 a0003c0003t0001g0031	1	48	0.0208	42	c.287 others(59): Show c.287-7004_287-7003insCGTGTGTGTGTGTGTGCGTGTGTGTGTG TGTGTGTGTGTGTG		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2371560	C C	CCGTCCTT others(35): Show CCGTCCTTCTGTTACCATAGTCCCTCCTTCCATTACCATAGTA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0018 a0001c0001t0011g0018	1	41	0.0244	42	c.286 others(61): Show c.286+37184_286+37185insTACTATGGTAATGGAAGGAGGGACTA TGGTAACAGAAGGACG		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2393733	T T	TGCACACA others(35): Show TGCACACAAGACACCCAGGGACAGGGACCTCACCGTCTCCTGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp1 HG01496.hp1 others(18): Show HG01167.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03491.hp1 NA18612.hp1 NA19079.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009	a0001c0001 a0002c0002 a0002c0005 others(8): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0003c0012 a0004c0004 a0004c0014 a0005c0006 a0007c0007 a0008c0013 a0009c0011	a0001c0001t0001 a0001c0001t0011 a0002c0002t0002 others(11): Show a0001c0001t0001 a0001c0001t0011 a0002c0002t0002 a0002c0005t0008 a0003c0003t0001 a0003c0003t0005 a0003c0003t0013 a0003c0012t0005 a0004c0004t0003 a0004c0014t0003 a0005c0006t0004 a0007c0007t0001 a0008c0013t0007 a0009c0011t0009	a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0029 others(18): Show a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0011g0018 a0002c0002t0002g0042 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0005t0008g0007 a0003c0003t0001g0031 a0003c0003t0005g0006 a0003c0003t0013g0002 a0003c0012t0005g0004 a0004c0004t0003g0010 a0004c0014t0003g0040 a0005c0006t0004g0034 a0007c0007t0001g0024 a0008c0013t0007g0036 a0009c0011t0009g0008	21	44	0.4773	42	c.286 others(61): Show c.286+15011_286+15012insGCAGGAGACGGTGAGGTCCCTGTCCC TGGGTGTCTTGTGTGC		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0011 a0001c0008t0003g0011	1	119	0.0084	42	c.118 others(59): Show c.118-3446_118-3445insATATATATATATATATATATATATATAT ATATATATATATAT		DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27						chr5	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	291	0.0034	42	c.118 others(59): Show c.118-3463_118-3462insAATATATATATATATATATATATATATA TATATATATATATA		DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27						chr5	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01070.hp2 HG01952.hp1 others(4): Show HG00673.hp2 HG01070.hp2 HG01952.hp1 HG02132.hp2 HG04228.hp2 NA18999.hp2 NA19005.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0108 a0001c0001t0001g0274 a0004c0006t0001g0106	7	297	0.0236	42	c.118 others(59): Show c.118-3463_118-3462insAATATATATAAATATATATATATATATA TATATATATATATA		DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27						chr5	TogoVar
DIAPH1_chr5_141510021_141624000	141591712	A A	ATATATAT others(35): Show ATATATATATATATATATATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18969.hp2 NA19085.hp2 NA18952.hp1 NA18969.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0002 a0001c0001t0001g0029	3	293	0.0102	42	c.118 others(59): Show c.118-3463_118-3462insAATATATATAAATATATATAAATATATA TATATATATATATA		DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27						chr5	TogoVar
DIAPH3_chr13_59660583_60168928	60156939	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0036 a0004c0007t0002g0036	1	98	0.0102	42	c.180 others(59): Show c.180+6647_180+6648insAAAAAAAATATATATATATATATATATA TATATATATATATA		DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27						chr13	TogoVar
DIDO1_chr20_62872743_62931505	62875374	G G	GCACCCGC others(35): Show GCACCCGCACCCCCACCCTCACCCCCACCCCCACCCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG01169.hp1 others(2): Show HG00639.hp1 HG01167.hp2 HG01169.hp1 HG03491.hp2 HG03492.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0014c0044 a0001c0001 a0002c0002 a0014c0044	a0001c0001t0001 a0002c0002t0001 a0014c0044t0001 a0001c0001t0001 a0002c0002t0001 a0014c0044t0001	a0001c0001t0001g0012 a0002c0002t0001g0117 a0002c0002t0001g0118 others(1): Show a0001c0001t0001g0012 a0002c0002t0001g0117 a0002c0002t0001g0118 a0014c0044t0001g0122	5	180	0.0278	42	c.38 others(53): Show c.3858_*3859insAGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGG TGCGGGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2368		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875434	T T	TCACCCTC others(35): Show TCACCCTCACCCTCACCCGCACCCGCACCCCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0029 a0003c0006t0001g0029	1	292	0.0034	42	c.37 others(53): Show c.3798_*3799insCGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGG TGAGGGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2308		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50505001	T T	TGGCGGCG others(35): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0091 a0001c0001t0024g0091	1	245	0.0041	42	c.-11 others(51): Show c.-117_-116insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGG		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/38				116	INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	358663	G G	GATGGGAG others(35): Show GATGGGAGGTGGGGGACGGGGGTGGGAGGTGGGGGACGGGGGA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	72	0.0139	42	c.279 others(59): Show c.2795-727_2795-726insTCCCCCGTCCCCCACCTCCCACCCCCGT CCCCCACCTCCCAT		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	22/36						chr10	TogoVar
DIP2C_chr10_269201_694668	429405	C C	CCCCCCGG others(35): Show CCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01981.hp1 HG01081.hp1 HG01981.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0002 a0001c0006t0002 a0001c0003t0002 a0001c0006t0002	a0001c0003t0002g0041 a0001c0006t0002g0054 a0001c0003t0002g0041 a0001c0006t0002g0054	2	60	0.0333	42	c.395 others(59): Show c.395-6373_395-6372insAGGCAGCCAGGGCCCGGGGGGGAGGCAG CCAGGGCCCGGGGG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36						chr10	TogoVar
DIP2C_chr10_269201_694668	446020	G G	GCACTGGA others(35): Show GCACTGGACATCTGTATACATCTGTTGTGAAGTCTCACAGGCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG02280.hp1 others(17): Show HG01081.hp2 HG01099.hp2 HG02280.hp1 HG02602.hp1 HG02647.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA18970.hp2 NA19007.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0018 a0001c0020 a0001c0021 a0001c0022	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(10): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0007t0002 a0001c0010t0002 a0001c0018t0003 a0001c0020t0008 a0001c0021t0002 a0001c0022t0003	a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0059 others(17): Show a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0059 a0001c0002t0001g0080 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0084 a0001c0004t0001g0046 a0001c0004t0001g0083 a0001c0004t0001g0086 a0001c0004t0003g0078 a0001c0005t0001g0005 a0001c0005t0002g0006 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0010t0002g0001 a0001c0018t0003g0007 a0001c0020t0008g0074 a0001c0021t0002g0081 a0001c0022t0003g0002	20	88	0.2273	42	c.269 others(59): Show c.269-5025_269-5024insGGCCTGTGAGACTTCACAACAGATGTAT ACAGATGTCCAGTG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36						chr10	TogoVar
DIP2C_chr10_269201_694668	608274	C C	CCCAGCCC others(35): Show CCCAGCCCCCCCCACACACCCCCCCCACACCCATCCCCCCACA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18906.hp1 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0011 a0001c0002t0003g0012	2	86	0.0233	42	c.85+ others(59): Show c.85+81219_85+81220insTGTGGGGGGATGGGTGTGGGGGGGGTGT GTGGGGGGGGCTGG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(35): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0016 a0001c0005t0002g0016	1	40	0.0250	42	c.85+ others(59): Show c.85+14704_85+14705insCTCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATATAT		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(35): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0012 a0001c0002t0003g0012	1	40	0.0250	42	c.85+ others(59): Show c.85+14704_85+14705insCTCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATATAT		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(35): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	40	0.0250	42	c.85+ others(59): Show c.85+14704_85+14705insCTCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATATATAT		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0283 a0001c0001t0009g0283	1	11	0.0909	42	c.558 others(57): Show c.558+251_558+252insAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATA		DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA19065.hp2 HG01255.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0300 a0001c0001t0003g0069 a0001c0001t0001g0300 a0001c0001t0003g0069	2	12	0.1667	42	c.558 others(57): Show c.558+251_558+252insAAAAAAAAAAAAAAAATATATATATATATA TATATATATATA		DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18998.hp2 NA19010.hp1 HG02300.hp2 NA18998.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0008 a0001c0001t0003 a0001c0005t0008	a0001c0001t0003g0055 a0001c0001t0003g0075 a0001c0005t0008g0060 a0001c0001t0003g0055 a0001c0001t0003g0075 a0001c0005t0008g0060	3	13	0.2308	42	c.558 others(57): Show c.558+251_558+252insAAAAAAAAAAAAAATATATATATATATATA TATATATATATA		DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02071.hp1 HG02165.hp2 others(2): Show HG00673.hp1 HG02071.hp1 HG02165.hp2 HG03486.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0005 a0001c0001t0003 a0001c0008t0005	a0001c0001t0003g0006 a0001c0001t0003g0062 a0001c0008t0005g0341 a0001c0001t0003g0006 a0001c0001t0003g0062 a0001c0008t0005g0341	5	15	0.3333	42	c.558 others(57): Show c.558+251_558+252insAAAAAAAAAAAATATATATATATATATATA TATATATATATA		DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(35): Show AAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG02300.hp1 HG01074.hp2 HG01099.hp2 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0002 a0001c0003t0001 a0002c0002t0002	a0001c0003t0001g0012 a0002c0002t0002g0238 a0001c0003t0001g0012 a0002c0002t0002g0238	3	13	0.2308	42	c.558 others(57): Show c.558+251_558+252insAAAAAAAAAATATATATATATATATATATA TATATATATATA		DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(35): Show AAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0265 a0002c0002t0024g0265	1	11	0.0909	42	c.558 others(57): Show c.558+251_558+252insAAAAAATATATATATATATATATATATATA TATATATATATA		DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01891.hp1 HG00438.hp2 HG01891.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0314 a0002c0002t0002g0232 a0001c0001t0005g0314 a0002c0002t0002g0232	2	12	0.1667	42	c.558 others(57): Show c.558+251_558+252insAAAATATATATATATATATATATATATATA TATATATATATA		DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr15	TogoVar
DISC1_chr1_231621790_232046272	231907047	C C	CTCCTCCC others(35): Show CTCCTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp1 HG02155.hp1 others(19): Show HG01261.hp1 HG01496.hp1 HG02155.hp1 HG02273.hp2 HG02559.hp1 HG02559.hp2 HG02922.hp2 HG03130.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA19000.hp1 NA19000.hp2 NA19066.hp1 NA19066.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0005 a0002c0003 others(7): Show a0001c0001 a0001c0005 a0002c0003 a0002c0004 a0003c0002 a0003c0007 a0004c0006 a0004c0013 a0006c0010 a0007c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0005t0006 a0001c0005t0011 a0002c0003t0002 a0002c0003t0019 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0003c0002t0009 a0003c0002t0015 a0003c0007t0001 a0004c0006t0001 a0004c0013t0002 a0006c0010t0003 a0007c0008t0004	a0001c0001t0001g0032 a0001c0001t0005g0001 a0001c0001t0007g0013 others(19): Show a0001c0001t0001g0032 a0001c0001t0005g0001 a0001c0001t0007g0013 a0001c0001t0008g0015 a0001c0001t0008g0037 a0001c0001t0010g0024 a0001c0001t0013g0036 a0001c0001t0014g0002 a0001c0005t0006g0033 a0001c0005t0011g0023 a0002c0003t0002g0008 a0002c0003t0019g0005 a0002c0004t0001g0003 a0002c0004t0003g0028 a0002c0004t0004g0004 a0003c0002t0009g0025 a0003c0002t0015g0012 a0003c0007t0001g0031 a0004c0006t0001g0034 a0004c0013t0002g0030 a0006c0010t0003g0027 a0007c0008t0004g0009	22	38	0.5789	42	c.198 others(63): Show c.1982-51780_1982-51739dupTCCTCCCTCCCTTCCTTCCTTCCC TCCCTCCCTTCCTTCCTT		DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222969370	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0024 a0024	a0024c0025 a0024c0025	a0024c0025t0001 a0024c0025t0001	a0024c0025t0001g0104 a0024c0025t0001g0104	1	12	0.0833	42	c.510 others(61): Show c.510-13693_510-13692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA		DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
DLC1_chr8_13078361_13519851	13219037	A A	ATTATATA others(35): Show ATTATATACGAATATAATTATATAATTATATACGAATATAATT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0020 a0005c0008t0003g0020	1	91	0.0110	42	c.134 others(63): Show c.1348+86231_1348+86232insAATTATATTCGTATATAATTATAT AATTATATTCGTATATAA		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17						chr8	TogoVar
DLG4_chr17_7182187_7222627	7184629	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0190 a0001c0001t0190	a0001c0001t0190g0247 a0001c0001t0190g0247	1	93	0.0108	42	c.60 others(53): Show c.6078_*6079insTATATATATATATATATATATATATATATATATA TATATATA		DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding					2557		chr17	TogoVar

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