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
DEPTOR_chr8_119868722_120055918	119980453	T T	TTTTTCTT others(23): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02630.hp2 others(4): Show HG01516.hp2 HG01517.hp1 HG02630.hp2 HG02897.hp2 HG03516.hp1 HG03831.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0005	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0002c0001t0006 a0002c0005t0001	a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 others(4): Show a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0004g0073 a0001c0003t0001g0032 a0002c0001t0006g0066 a0002c0005t0001g0089	7	14	0.5000	30	c.604 others(49): Show c.604+15075_604+15104dupTTTCTTTTCTTTTCTTTTCTTTTCTT TTCT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0118 a0003c0004t0002g0118	1	42	0.0238	30	c.791 others(45): Show c.791-185_791-184insAAAAAAAATATATATATATATATATATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02622.hp2 NA20300.hp2 HG02135.hp2 HG02622.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0006 a0003c0004t0002 a0001c0003t0006 a0003c0004t0002	a0001c0003t0006g0132 a0003c0004t0002g0144 a0003c0004t0002g0147 a0001c0003t0006g0132 a0003c0004t0002g0144 a0003c0004t0002g0147	3	44	0.0682	30	c.791 others(45): Show c.791-185_791-184insAAAATATATATATATATATATATATATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02630.hp1 HG03139.hp1 HG01361.hp2 HG02630.hp1 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0001 a0001c0003t0003 a0003c0004t0002 a0001c0003t0001 a0001c0003t0003 a0003c0004t0002	a0001c0003t0001g0160 a0001c0003t0003g0140 a0003c0004t0002g0149 a0001c0003t0001g0160 a0001c0003t0003g0140 a0003c0004t0002g0149	3	44	0.0682	30	c.791 others(45): Show c.791-185_791-184insAATATATATATATATATATATATATATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0161 a0001c0003t0004g0161	1	42	0.0238	30	c.791 others(45): Show c.791-165_791-164insTATATATATATATATATATATATATATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120021058	C C	CAAAATAA others(23): Show CAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp2 HG01258.hp2 others(27): Show HG01175.hp1 HG01175.hp2 HG01258.hp2 HG01952.hp1 HG02145.hp2 HG02257.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02723.hp1 HG02738.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 NA18612.hp1 NA19030.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0001c0003 a0001c0012 others(4): Show a0001c0002 a0001c0003 a0001c0012 a0002c0001 a0003c0004 a0003c0008 a0005c0007	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(10): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0011 a0001c0012t0004 a0002c0001t0003 a0002c0001t0004 a0002c0001t0006 a0003c0004t0002 a0003c0008t0002 a0005c0007t0001 a0005c0007t0003	a0001c0002t0001g0051 a0001c0002t0001g0096 a0001c0002t0001g0097 others(27): Show a0001c0002t0001g0051 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0107 a0001c0002t0003g0099 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0004g0076 a0001c0003t0001g0098 a0001c0003t0001g0162 a0001c0003t0011g0084 a0001c0012t0004g0071 a0002c0001t0003g0026 a0002c0001t0003g0031 a0002c0001t0004g0137 a0002c0001t0006g0066 a0003c0004t0002g0122 a0003c0004t0002g0138 a0003c0004t0002g0152 a0003c0004t0002g0157 a0003c0004t0002g0165 a0003c0004t0002g0166 a0003c0004t0002g0169 a0003c0008t0002g0095 a0005c0007t0001g0061 a0005c0007t0003g0062	30	75	0.4000	30	c.110 others(51): Show c.1101+11927_1101+11956dupAAATAAAATAAAATAAAATAAAAT AAAATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120030497	G G	GTTTGTTT others(23): Show GTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	29	0.0345	30	c.110 others(51): Show c.1102-19076_1102-19075insGTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DERA_chr12_15906332_16042381	15936881	T T	TTGTCCTG others(23): Show TTGTCCTGTCCTGTCCTGTCCTGTCCTGTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	249	0.0040	30	c.32- others(47): Show c.32-20051_32-20050insCTGTCCTGTCCTGTCCTGTCCTGTCCTG TC	DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
DEUP1_chr11_93325742_93443470	93373570	C C	CATATATA others(23): Show CATATATATATACATATATATATATACGTAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	364	0.0027	30	c.789 others(47): Show c.789+2313_789+2314insTACGTATATATATATATACATATATATA TA	DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
DEUP1_chr11_93325742_93443470	93373580	T T	TACATATA others(23): Show TACATATATATATATACGTATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0272 a0001c0014t0006g0272	1	366	0.0027	30	c.789 others(47): Show c.789+2313_789+2314insTACGTATATATATATACACATATATATA TA	DEUP1	ENSG00000165325.15	transcript	ENST00000298050.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
DGCR2_chr22_19031286_19127412	19062774	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0133 a0002c0002t0002g0133	1	342	0.0029	30	c.625 others(45): Show c.625+427_625+428insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR2_chr22_19031286_19127412	19062779	A A	ACTCTCTC others(23): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0162 a0002c0002t0002g0163	2	138	0.0145	30	c.625 others(45): Show c.625+422_625+423insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	5/9			chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGCG others(23): Show TGTGTGCGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	35	0.0286	30	c.-28 others(41): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCGCACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGCGCGCGCGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 NA18983.hp2 HG02735.hp1 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	2	36	0.0556	30	c.-28 others(41): Show c.-2845_-2844insGCGTGCGCGCGCGCGCGCGCGCGCACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGTGCGCGCTTGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	35	0.0286	30	c.-28 others(41): Show c.-2845_-2844insGCGTGCGCGCGCGCAAGCGCGCACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGCGCAGCGCAGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	35	0.0286	30	c.-28 others(41): Show c.-2845_-2844insGCGTGCGCGCTGCGCTGCGCACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGCGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 NA18956.hp2 HG03486.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0001 a0001c0001t0001g0018	2	36	0.0556	30	c.-28 others(41): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCGCACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	35	0.0286	30	c.-28 others(41): Show c.-2845_-2844insGCATGCGCGCGCGCGCGCACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02572.hp1 HG02040.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0002g0002 a0001c0001t0001g0001 a0001c0002t0002g0002	2	36	0.0556	30	c.-28 others(41): Show c.-2845_-2844insGCGTGCGCGCGCGCGCACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
DGCR6L_chr22_20309238_20325060	20322832	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGCGCGCGCGCATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	35	0.0286	30	c.-28 others(41): Show c.-2845_-2844insGCATGCGCGCGCGCACACACACACACACAC	DGCR6L	ENSG00000128185.10	transcript	ENST00000248879.8	protein_coding		2773		chr22	TogoVar
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	a0001c0001t0023g0123 a0001c0001t0023g0123	1	114	0.0088	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 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0007 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0002c0007t0006 a0003c0011t0002	a0001c0001t0001g0047 a0001c0001t0001g0098 a0001c0001t0001g0101 others(10): Show a0001c0001t0001g0047 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0118 a0001c0001t0002g0143 a0001c0002t0001g0070 a0001c0002t0002g0020 a0001c0004t0001g0026 a0002c0007t0006g0040 a0003c0011t0002g0111	13	97	0.1340	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	92	0.0109	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	a0001c0002t0002g0030 a0001c0002t0006g0082 a0001c0002t0009g0186 others(10): Show a0001c0002t0002g0030 a0001c0002t0006g0082 a0001c0002t0009g0186 a0001c0003t0003g0183 a0002c0001t0001g0079 a0002c0001t0001g0133 a0002c0001t0002g0028 a0002c0001t0002g0125 a0002c0001t0004g0095 a0002c0001t0022g0188 a0002c0005t0004g0020 a0003c0004t0009g0192 a0003c0006t0001g0145	13	27	0.4815	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	a0002c0001t0039g0202 a0002c0001t0039g0202	1	34	0.0294	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	a0001c0002t0027g0157 a0001c0003t0003g0163 a0001c0003t0042g0220 others(2): Show a0001c0002t0027g0157 a0001c0003t0003g0163 a0001c0003t0042g0220 a0002c0001t0003g0231 a0002c0001t0031g0110	5	176	0.0284	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 a0001c0001t0104 a0001c0001t0001 a0001c0001t0016 a0001c0001t0104	a0001c0001t0001g0234 a0001c0001t0016g0002 a0001c0001t0016g0037 others(1): Show a0001c0001t0001g0234 a0001c0001t0016g0002 a0001c0001t0016g0037 a0001c0001t0104g0303	4	18	0.2222	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	a0001c0005t0026g0016 a0001c0005t0026g0016	1	16	0.0625	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	a0001c0004t0048 a0001c0014t0007 a0001c0004t0048 a0001c0014t0007	a0001c0004t0048g0079 a0001c0014t0007g0036 a0001c0004t0048g0079 a0001c0014t0007g0036	2	17	0.1176	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	8	0.1250	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	a0001c0011t0001g0046 a0001c0011t0001g0046	1	23	0.0435	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 a0016 a0002 a0005 a0016	a0002c0002 a0005c0015 a0016c0026 a0002c0002 a0005c0015 a0016c0026	a0002c0002t0001 a0005c0015t0001 a0016c0026t0015 a0002c0002t0001 a0005c0015t0001 a0016c0026t0015	a0002c0002t0001g0203 a0005c0015t0001g0183 a0005c0015t0001g0199 others(1): Show a0002c0002t0001g0203 a0005c0015t0001g0183 a0005c0015t0001g0199 a0016c0026t0015g0038	4	194	0.0206	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 a0011 a0005 a0011	a0005c0009 a0011c0016 a0005c0009 a0011c0016	a0005c0009t0001 a0011c0016t0001 a0005c0009t0001 a0011c0016t0001	a0005c0009t0001g0146 a0011c0016t0001g0151 a0005c0009t0001g0146 a0011c0016t0001g0151	2	19	0.1053	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	a0001c0001t0002g0007 a0001c0001t0002g0007	1	79	0.0127	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	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0250 a0001c0001t0008g0250	1	20	0.0500	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	a0001c0001t0001g0005 a0001c0001t0001g0005	1	170	0.0059	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	a0001c0001t0001g0112 a0001c0001t0001g0112	1	152	0.0066	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	22	0.0455	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	a0001c0001t0001g0271 a0001c0001t0001g0271	1	43	0.0233	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 a0019 a0001 a0002 a0019	a0001c0009 a0002c0011 a0019c0033 a0001c0009 a0002c0011 a0019c0033	a0001c0009t0003 a0001c0009t0004 a0001c0009t0006 others(4): Show a0001c0009t0003 a0001c0009t0004 a0001c0009t0006 a0001c0009t0021 a0002c0011t0004 a0002c0011t0006 a0019c0033t0004	a0001c0009t0003g0151 a0001c0009t0003g0154 a0001c0009t0004g0111 others(19): Show a0001c0009t0003g0151 a0001c0009t0003g0154 a0001c0009t0004g0111 a0001c0009t0004g0130 a0001c0009t0004g0155 a0001c0009t0004g0157 a0001c0009t0004g0172 a0001c0009t0006g0052 a0001c0009t0006g0109 a0001c0009t0006g0153 a0001c0009t0006g0159 a0001c0009t0021g0351 a0002c0011t0004g0118 a0002c0011t0004g0119 a0002c0011t0004g0306 a0002c0011t0004g0310 a0002c0011t0004g0326 a0002c0011t0004g0333 a0002c0011t0004g0347 a0002c0011t0006g0117 a0002c0011t0006g0345 a0019c0033t0004g0057	22	360	0.0611	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	339	0.0029	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 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0013 a0001c0001 a0002c0002 a0008c0013	a0001c0001t0002 a0002c0002t0001 a0008c0013t0003 a0001c0001t0002 a0002c0002t0001 a0008c0013t0003	a0001c0001t0002g0204 a0001c0001t0002g0205 a0002c0002t0001g0016 others(2): Show a0001c0001t0002g0204 a0001c0001t0002g0205 a0002c0002t0001g0016 a0002c0002t0001g0082 a0008c0013t0003g0192	5	36	0.1389	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	a0001c0001t0001g0110 a0001c0001t0002g0123 a0001c0001t0002g0136 a0001c0001t0001g0110 a0001c0001t0002g0123 a0001c0001t0002g0136	3	121	0.0248	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	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0008 a0001c0008t0001g0008	1	94	0.0106	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	a0001c0001t0003g0100 a0001c0001t0003g0100	1	144	0.0069	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	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0010 a0001c0001t0002g0011	2	143	0.0140	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 a0001c0001t0015 a0001c0001t0016 a0001c0001t0002 a0001c0001t0015 a0001c0001t0016	a0001c0001t0002g0140 a0001c0001t0015g0089 a0001c0001t0016g0086 a0001c0001t0002g0140 a0001c0001t0015g0089 a0001c0001t0016g0086	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	a0001c0001t0001g0203 a0001c0001t0001g0203	1	43	0.0233	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	a0001c0001t0002g0179 a0001c0001t0002g0179	1	206	0.0049	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	a0001c0001t0001g0198 a0001c0001t0002g0072 a0001c0001t0002g0132 others(3): Show a0001c0001t0001g0198 a0001c0001t0002g0072 a0001c0001t0002g0132 a0001c0002t0001g0071 a0001c0002t0001g0131 a0001c0002t0001g0137	6	144	0.0417	30	c.180 others(47): Show c.180+6668_180+6669insATATATATATATATATATATATATATAT GT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	1/27			chr13	TogoVar

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