Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DGKB_chr7_14140049_14907751	14360448	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0122 a0001c0001t0023g0122	1	148	0.0068	30	c.183 others(51): Show c.1836-15058_1836-15057insTATATATATATATATATATATATA TATATA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14612154	C C	CATTTTAT others(23): Show CATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01255.hp1 others(10): Show HG00558.hp2 HG00621.hp2 HG01255.hp1 HG01993.hp2 HG02071.hp1 HG02135.hp1 HG02135.hp2 HG02523.hp2 HG03942.hp1 NA18984.hp2 NA19002.hp1 NA19057.hp2 NA19081.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0002c0007t0006 a0004c0011t0002	a0001c0001t0001g0047 a0001c0001t0001g0098 a0001c0001t0001g0101 others(10): Show a0001c0001t0001g0047 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0143 a0001c0002t0001g0070 a0001c0002t0002g0020 a0001c0004t0001g0026 a0002c0007t0006g0041 a0004c0011t0002g0110	13	148	0.0878	30	c.135 others(49): Show c.1358+1156_1358+1185dupAAAATAAAATAAAATAAAATAAAATA AAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	16/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14628307	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	148	0.0068	30	c.116 others(49): Show c.1167+1928_1167+1929insCACACACACACACACACACACACACA CACA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	14/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186223011	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00673.hp2 others(10): Show HG00639.hp2 HG00642.hp1 HG00673.hp2 HG01993.hp1 HG02132.hp1 HG02273.hp1 HG04115.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18999.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0002c0005 a0003c0004 a0003c0006	a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 others(8): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0003t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0022 a0002c0005t0004 a0003c0004t0009 a0003c0006t0001	a0001c0002t0002g0036 a0001c0002t0006g0081 a0001c0002t0009g0187 others(10): Show a0001c0002t0002g0036 a0001c0002t0006g0081 a0001c0002t0009g0187 a0001c0003t0003g0184 a0002c0001t0001g0078 a0002c0001t0001g0130 a0002c0001t0002g0034 a0002c0001t0002g0123 a0002c0001t0004g0094 a0002c0001t0022g0189 a0002c0005t0004g0019 a0003c0004t0009g0193 a0003c0006t0001g0144	13	234	0.0556	30	c.182 others(51): Show c.1827-11127_1827-11126insTATATATATATATATATATATATA TATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	20/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186297068	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0039 a0002c0001t0039	a0002c0001t0039g0203 a0002c0001t0039g0203	1	234	0.0043	30	c.373 others(45): Show c.373+352_373+353insTGTGTGTGTGTGTGTGTGTGAGAGAGAGAG	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	5/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186346655	G G	GCTATACT others(23): Show GCTATACTATACTATACTATACTATACTATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp1 HG03195.hp2 others(2): Show HG02886.hp2 HG03139.hp1 HG03195.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0027 a0001c0003t0003 a0001c0003t0042 others(2): Show a0001c0002t0027 a0001c0003t0003 a0001c0003t0042 a0002c0001t0003 a0002c0001t0031	a0001c0002t0027g0156 a0001c0003t0003g0162 a0001c0003t0042g0221 others(2): Show a0001c0002t0027g0156 a0001c0003t0003g0162 a0001c0003t0042g0221 a0002c0001t0003g0232 a0002c0001t0031g0109	5	234	0.0214	30	c.-24 others(51): Show c.-249+15290_-249+15291insTATAGTATAGTATAGTATAGTATA GTATAG	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01256.hp2 HG01258.hp2 HG01884.hp2 others(1): Show HG01256.hp2 HG01258.hp2 HG01884.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0103 a0001c0001t0001 a0001c0001t0016 a0001c0001t0103	a0001c0001t0001g0234 a0001c0001t0016g0002 a0001c0001t0016g0037 others(1): Show a0001c0001t0001g0234 a0001c0001t0016g0002 a0001c0001t0016g0037 a0001c0001t0103g0303	4	316	0.0127	30	c.623 others(41): Show c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0025 a0001c0005t0026g0025	1	94	0.0106	30	c.993 others(47): Show c.993+1672_993+1673insAAAATATATATATATATATATATATATA TA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137618151	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18992.hp2 HG02258.hp1 NA18992.hp2	a0001 a0001	a0001c0004 a0001c0014 a0001c0004 a0001c0014	a0001c0004t0047 a0001c0014t0007 a0001c0004t0047 a0001c0014t0007	a0001c0004t0047g0067 a0001c0014t0007g0016 a0001c0004t0047g0067 a0001c0014t0007g0016	2	94	0.0213	30	c.993 others(47): Show c.993+1672_993+1673insAAAAAATATATATATATATATATATATA TA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	8/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137638615	C C	CATATATA others(23): Show CATATATACACATATATGTATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0002 a0001c0011t0001g0002	1	94	0.0106	30	c.804 others(47): Show c.804+6856_804+6857insATACACATATATACATATATGTGTATAT AT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar
DGKI_chr7_137376037_137851974	137767471	G G	GGAAGAGA others(23): Show GGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0031 a0001c0011t0001g0031	1	94	0.0106	30	c.402 others(49): Show c.402-77499_402-77470dupTCTTCTCTTCTCTTCTCTTCTCTTCT CTTC	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	1/32			chr7	TogoVar
DGLUCY_chr14_91109073_91230632	91182898	G G	GTTATTTT others(23): Show GTTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02280.hp2 HG02922.hp1 others(1): Show HG01192.hp2 HG02280.hp2 HG02922.hp1 HG03516.hp1	a0002 a0005 a0015 a0002 a0005 a0015	a0002c0002 a0005c0015 a0015c0026 a0002c0002 a0005c0015 a0015c0026	a0002c0002t0001 a0005c0015t0001 a0015c0026t0015 a0002c0002t0001 a0005c0015t0001 a0015c0026t0015	a0002c0002t0001g0187 a0005c0015t0001g0189 a0005c0015t0001g0202 others(1): Show a0002c0002t0001g0187 a0005c0015t0001g0189 a0005c0015t0001g0202 a0015c0026t0015g0038	4	216	0.0185	30	c.934 others(47): Show c.934+1536_934+1537insATTTTATTTTATTTTATTTTATTTTATT TT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DGLUCY_chr14_91109073_91230632	91205754	C C	CTCTTCTT others(23): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp2 HG02717.hp1 HG02970.hp2	a0005 a0009 a0005 a0009	a0005c0009 a0009c0016 a0005c0009 a0009c0016	a0005c0009t0001 a0009c0016t0001 a0005c0009t0001 a0009c0016t0001	a0005c0009t0001g0146 a0009c0016t0001g0151 a0005c0009t0001g0146 a0009c0016t0001g0151	2	216	0.0093	30	c.156 others(47): Show c.1564+942_1564+971dupTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	DGLUCY	ENSG00000133943.21	transcript	ENST00000256324.15	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
DGUOK_chr2_73921880_73963946	73923641	C C	CAAGAAAA others(23): Show CAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	352	0.0028	30	c.-32 others(41): Show c.-3270_-3269insAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	DGUOK	ENSG00000114956.20	transcript	ENST00000264093.9	protein_coding		3238		chr2	TogoVar
DHFR_chr5_80621226_80659983	80637285	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0257 a0001c0001t0011g0257	1	376	0.0027	30	c.369 others(45): Show c.369+568_369+597dupATATATATATATATATATATATATATATAT	DHFR	ENSG00000228716.7	transcript	ENST00000439211.7	protein_coding	4/5			chr5	TogoVar
DHRS7C_chr17_9766438_9796592	9768850	C C	CTTATTTT others(23): Show CTTATTTTATTTATTTATTTATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	424	0.0024	30	c.26 others(41): Show c.2637_*2638insAATAAATAAATAAATAAATAAATAAAATAA	DHRS7C	ENSG00000184544.12	transcript	ENST00000571134.2	protein_coding		2587		chr17	TogoVar
DHRS9_chr2_169064563_169101167	169078815	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	398	0.0025	30	c.-59 others(47): Show c.-59-2682_-59-2681insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	374	0.0027	30	c.108 others(49): Show c.1081-1073_1081-1072insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar
DHX15_chr4_24522475_24589554	24574205	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	374	0.0027	30	c.507 others(47): Show c.507+2037_507+2038insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	2/13			chr4	TogoVar
DHX37_chr12_124941826_124994131	124961273	T T	TGCACACA others(23): Show TGCACACACGCACACACATACACGCGTGCAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02258.hp2 others(19): Show HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0030 a0001 a0002 a0030	a0001c0009 a0002c0011 a0030c0033 a0001c0009 a0002c0011 a0030c0033	a0001c0009t0003 a0001c0009t0004 a0001c0009t0006 others(4): Show a0001c0009t0003 a0001c0009t0004 a0001c0009t0006 a0001c0009t0021 a0002c0011t0004 a0002c0011t0006 a0030c0033t0004	a0001c0009t0003g0149 a0001c0009t0003g0152 a0001c0009t0004g0109 others(19): Show a0001c0009t0003g0149 a0001c0009t0003g0152 a0001c0009t0004g0109 a0001c0009t0004g0128 a0001c0009t0004g0153 a0001c0009t0004g0155 a0001c0009t0004g0170 a0001c0009t0006g0016 a0001c0009t0006g0107 a0001c0009t0006g0151 a0001c0009t0006g0157 a0001c0009t0021g0351 a0002c0011t0004g0116 a0002c0011t0004g0117 a0002c0011t0004g0306 a0002c0011t0004g0310 a0002c0011t0004g0326 a0002c0011t0004g0333 a0002c0011t0004g0347 a0002c0011t0006g0115 a0002c0011t0006g0345 a0030c0033t0004g0057	22	370	0.0595	30	c.204 others(47): Show c.2046-851_2046-850insGTGCACGCGTGTATGTGTGTGCGTGTGT GC	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	15/26			chr12	TogoVar
DHX37_chr12_124941826_124994131	124961273	T T	TGCACGCA others(23): Show TGCACGCACGCACACACATACACGCGTGCAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0196 a0003c0005t0003g0196	1	370	0.0027	30	c.204 others(47): Show c.2046-851_2046-850insGTGCACGCGTGTATGTGTGTGCGTGCGT GC	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	15/26			chr12	TogoVar
DHX57_chr2_38792729_38880934	38853044	G G	GTTTTCTT others(23): Show GTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18950.hp1 NA18970.hp2 others(2): Show HG02723.hp2 NA18950.hp1 NA18970.hp2 NA19030.hp1 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0013 a0001c0001 a0002c0002 a0007c0013	a0001c0001t0002 a0002c0002t0001 a0007c0013t0003 a0001c0001t0002 a0002c0002t0001 a0007c0013t0003	a0001c0001t0002g0205 a0001c0001t0002g0206 a0002c0002t0001g0013 others(2): Show a0001c0001t0002g0205 a0001c0001t0002g0206 a0002c0002t0001g0013 a0002c0002t0001g0079 a0007c0013t0003g0193	5	284	0.0176	30	c.203 others(49): Show c.2030+1009_2030+1010insGAAAAGAAAAGAAAAGAAAAGAAAAG AAAA	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	9/23			chr2	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01884.hp1 HG03225.hp2 HG01346.hp2 HG01884.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0113 a0001c0001t0002g0126 a0001c0001t0002g0137 a0001c0001t0001g0113 a0001c0001t0002g0126 a0001c0001t0002g0137	3	336	0.0089	30	c.118 others(47): Show c.118-3475_118-3446dupATATATATATATATATATATATATATAT AT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96939484	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0007 a0001c0009t0001g0007	1	147	0.0068	30	c.132 others(47): Show c.1325+103_1325+104insGTGTGTATATATATATATATATGTATAT AT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939488	G G	GTATATAT others(23): Show GTATATATATATGTATATATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	147	0.0068	30	c.132 others(47): Show c.1325+142_1325+171dupATATATGTATATATATATGTATGTATAT AT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97185484	T T	TATGTGTG others(23): Show TATGTGTGTGTATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0008 a0001c0001t0002g0009	2	147	0.0136	30	c.271 others(51): Show c.2719+43692_2719+43693insGTGTGTGTATATATATATATATAC ACACAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97380680	C C	CTTTTAAA others(23): Show CTTTTAAAATTATTTCCTAAGGAAAGAGAAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG02055.hp1 HG01081.hp2 HG01243.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0018 a0001c0001t0002 a0001c0001t0017 a0001c0001t0018	a0001c0001t0002g0139 a0001c0001t0017g0086 a0001c0001t0018g0083 a0001c0001t0002g0139 a0001c0001t0017g0086 a0001c0001t0018g0083	3	147	0.0204	30	c.301 others(49): Show c.3010-3228_3010-3227insTTTAAAATTATTTCCTAAGGAAAGAG AATT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	24/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59729810	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	208	0.0048	30	c.331 others(51): Show c.3319+44378_3319+44379insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	27/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	59928372	C C	CTTTTATA others(23): Show CTTTTATAAATTTCTTTTTATTTGGGGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	208	0.0048	30	c.207 others(49): Show c.2075-3532_2075-3503dupCACACCCCAAATAAAAAGAAATTTAT AAAA	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	17/27			chr13	TogoVar
DIAPH3_chr13_59660583_60168928	60156918	C C	CACATATA others(23): Show CACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp2 HG01928.hp2 others(3): Show HG01081.hp1 HG01261.hp2 HG01928.hp2 HG01952.hp2 HG03017.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0165 a0001c0001t0002g0102 a0001c0001t0002g0114 others(3): Show a0001c0001t0001g0165 a0001c0001t0002g0102 a0001c0001t0002g0114 a0001c0002t0001g0106 a0001c0002t0001g0138 a0001c0002t0001g0141	6	208	0.0289	30	c.180 others(47): Show c.180+6668_180+6669insATATATATATATATATATATATATATAT GT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62929693	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01167.hp2 others(15): Show HG00544.hp2 HG00609.hp1 HG01167.hp2 HG01169.hp1 HG02135.hp1 HG02135.hp2 HG02895.hp2 HG03516.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 NA18964.hp1 NA18984.hp1 NA18993.hp1 NA18999.hp2 NA19000.hp1 NA19080.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0027 a0003c0003 a0001c0001 a0001c0027 a0003c0003	a0001c0001t0001 a0001c0001t0014 a0001c0027t0001 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0027t0001 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0014g0106 a0001c0027t0001g0066 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0245 a0003c0003t0001g0257 a0003c0003t0001g0268	18	320	0.0563	30	c.-34 others(41): Show c.-3455_-3454insTATATATATATATATATATATATATATATA	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		3189		chr20	TogoVar
DIP2A_chr21_46453891_46575015	46477543	T T	TTTTGTGT others(23): Show TTTTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01106.hp1 others(3): Show HG00140.hp1 HG00735.hp2 HG01106.hp1 HG03098.hp1 NA18522.hp2 NA18994.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0014 a0001c0007t0005 a0001c0006t0014 a0001c0007t0005	a0001c0006t0014g0150 a0001c0006t0014g0175 a0001c0007t0005g0128 others(3): Show a0001c0006t0014g0150 a0001c0006t0014g0175 a0001c0007t0005g0128 a0001c0007t0005g0133 a0001c0007t0005g0157 a0001c0007t0005g0158	6	374	0.0160	30	c.92- others(45): Show c.92-7213_92-7212insTTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46495244	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0151 a0001c0007t0005g0151	1	374	0.0027	30	c.284 others(47): Show c.284-1738_284-1709dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	3/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46564772	G G	GCCCTCAG others(23): Show GCCCTCAGAGGTCGGTCCTGATCGGAAGGGT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	374	0.0027	30	c.416 others(47): Show c.4164+841_4164+842insCCTCAGAGGTCGGTCCTGATCGGAAGGG TC	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2A_chr21_46453891_46575015	46573246	T T	TAAATAGA others(23): Show TAAATAGATTAAATGGACAGAGATTGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	374	0.0027	30	c.56 others(41): Show c.5624_*5625insAAATAGATTAAATGGACAGAGATTGGCAGA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding		3232		chr21	TogoVar
DIP2A_chr21_46453891_46575015	46573645	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0050 a0001c0008t0001g0050	1	374	0.0027	30	c.60 others(41): Show c.6023_*6024insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DIP2A	ENSG00000160305.18	transcript	ENST00000417564.3	protein_coding		3631		chr21	TogoVar
DIP2B_chr12_50499985_50753657	50501219	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0087 a0001c0001t0012g0087	1	284	0.0035	30	c.-39 others(41): Show c.-3922_-3921insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding		3765		chr12	TogoVar
DIP2B_chr12_50499985_50753657	50505001	T T	TGGCGGCG others(23): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01074.hp2 HG03654.hp2 HG01074.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0075 a0001c0001t0015g0088 a0001c0001t0015g0075 a0001c0001t0015g0088	2	284	0.0070	30	c.-11 others(39): Show c.-117_-116insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/38	116	INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593691	T T	TTCTCCTC others(23): Show TTCTCCTCTCCTCTCCCCTCCCCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0111 a0001c0002t0004g0111	1	284	0.0035	30	c.101 others(49): Show c.101-32265_101-32264insCCTCCTCTCCTCTCCTCTCCTCTCCC CTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593707	C C	CCTCCTCT others(23): Show CCTCCTCTCCTCTCCTCTCCTCTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01993.hp2 HG02148.hp1 others(1): Show HG01943.hp1 HG01993.hp2 HG02148.hp1 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0028 a0001c0003t0002g0064 a0001c0003t0002g0068 others(1): Show a0001c0003t0002g0028 a0001c0003t0002g0064 a0001c0003t0002g0068 a0001c0003t0002g0070	4	284	0.0141	30	c.101 others(49): Show c.101-32259_101-32230dupTCTCCTCTCCTCTCCTCTCCTCTCCT CTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593722	T T	TCTCCTCT others(23): Show TCTCCTCTCCTCTCCCCTCCTCTCCTCTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 NA18944.hp1 others(9): Show HG00438.hp2 HG00609.hp1 NA18944.hp1 NA18950.hp1 NA18953.hp1 NA18971.hp2 NA18979.hp2 NA18990.hp2 NA18994.hp2 NA19064.hp1 NA19079.hp1 NA20905.hp2	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0002 a0001c0010 a0008c0014 others(1): Show a0001c0002 a0001c0010 a0008c0014 a0010c0012	a0001c0002t0004 a0001c0010t0004 a0008c0014t0004 others(1): Show a0001c0002t0004 a0001c0010t0004 a0008c0014t0004 a0010c0012t0003	a0001c0002t0004g0199 a0001c0002t0004g0200 a0001c0002t0004g0235 others(9): Show a0001c0002t0004g0199 a0001c0002t0004g0200 a0001c0002t0004g0235 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0004g0238 a0001c0002t0004g0250 a0001c0002t0004g0272 a0001c0010t0004g0196 a0001c0010t0004g0197 a0008c0014t0004g0225 a0010c0012t0003g0198	12	284	0.0423	30	c.101 others(49): Show c.101-32240_101-32239insCCTCCTCTCCTCTCCCCTCCTCTCCT CTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593732	T T	TCTCCCCT others(23): Show TCTCCCCTCCTCTCCTCTCCTCTCCTCTCCC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp2 HG01123.hp1 others(8): Show HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01255.hp1 HG01358.hp1 HG01515.hp1 HG02300.hp2 HG02615.hp2 HG03927.hp1 NA18906.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0201 a0001c0002t0003g0205 a0001c0002t0003g0206 others(8): Show a0001c0002t0003g0201 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0223 a0001c0002t0003g0239 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0273	11	284	0.0387	30	c.101 others(49): Show c.101-32240_101-32239insCCTCCTCTCCTCTCCTCTCCTCTCCC CTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593737	T T	TCTCCCCT others(23): Show TCTCCCCTCCTCTCCTCTCCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0232 a0001c0002t0003g0232	1	284	0.0035	30	c.101 others(49): Show c.101-32235_101-32234insCCTCCTCTCCTCTCCTCTCCCCTCCC CTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593742	T T	TCTCCTCT others(23): Show TCTCCTCTCCTCTCCTCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0202 a0001c0002t0003g0202	1	284	0.0035	30	c.101 others(49): Show c.101-32230_101-32229insTCTCCTCTCCTCTCCCCTCCCCTCCC CTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598801	T T	TCCCCCTC others(23): Show TCCCCCTCCCCTCTCCCCTCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	284	0.0035	30	c.101 others(49): Show c.101-27171_101-27170insCTCCCCTCTCCCCTCCCCTCCCCCTC CCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50716958	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0134 a0001c0001t0014g0134	1	284	0.0035	30	c.285 others(49): Show c.2852-1728_2852-1727insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	23/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	478238	G G	GGAGGGGA others(23): Show GGAGGGGAGGGGAGGGGAGGGGAGGGGAGAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18962.hp1 HG02155.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0023 a0001c0001t0004g0015 a0001c0001t0001g0023 a0001c0001t0004g0015	2	88	0.0227	30	c.158 others(47): Show c.158-5690_158-5689insTTCTCCCCTCCCCTCCCCTCCCCTCCCC TC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608594	A A	ACACATCC others(23): Show ACACATCCCCCCCCCACACACACACACATCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	88	0.0114	30	c.85+ others(47): Show c.85+80899_85+80900insGGATGTGTGTGTGTGTGGGGGGGGGATG TG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(23): Show TATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0016 a0001c0005t0002g0016	1	88	0.0114	30	c.85+ others(47): Show c.85+14704_85+14705insCTCTCTCTCTCTCTATATATATATATAT AT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	674789	T T	TATATATA others(23): Show TATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03130.hp2 HG02040.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0002 a0001c0001t0001 a0001c0010t0002	a0001c0001t0001g0026 a0001c0010t0002g0001 a0001c0001t0001g0026 a0001c0010t0002g0001	2	88	0.0227	30	c.85+ others(47): Show c.85+14704_85+14705insCTCTCTCTCTCTATATATATATATATAT AT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar

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