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
DAAM1_chr14_59183667_59376403	59289783	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0043 a0001c0004t0043	a0001c0004t0043g0048 a0001c0004t0043g0048	1	298	0.0034	52	c.184 others(69): Show c.184-1433_184-1432insTATATATATATATATATATATATATATA TATATATATATATATATATATAAA	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DACH1_chr13_71432966_71872204	71553445	C C	CATATATG others(45): Show CATATATGTATATTAGACATATATCCATATATGTATATTAGACATATATA CAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG02735.hp1 others(2): Show HG00609.hp1 HG00735.hp1 HG02735.hp1 HG03017.hp1 HG03490.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0002c0002t0001 a0001c0001t0001 a0001c0001t0010 a0002c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0053 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0053 a0001c0001t0010g0020 a0002c0002t0001g0078	5	102	0.0490	52	c.157 others(71): Show c.1570+3578_1570+3579insATGTATATATGTCTAATATACATATA TGGATATATGTCTAATATACATATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71553445	C C	CATATATG others(45): Show CATATATGTATATTAGACATATATCCATATATGTATATTATACATATATA CAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	102	0.0098	52	c.157 others(71): Show c.1570+3578_1570+3579insATGTATATATGTATAATATACATATA TGGATATATGTCTAATATACATATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH2_chrX_86143451_86837602	86546404	C C	CTTCTTCT others(45): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCCTT CTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	166	0.0060	52	c.640 others(71): Show c.640+32013_640+32014insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCCTTCTTCTTCCTTCTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11			chrX	TogoVar
DAO_chr12_108875092_108906043	108903287	G G	GAGAAAGG others(45): Show GAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	388	0.0026	52	c.27 others(63): Show c.2752_*2753insAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		2245		chr12	TogoVar
DAPK2_chr15_63902036_64051485	64036319	G G	GTATATAT others(45): Show GTATATATATATATATATGTATATATATATACATATATATATATATATGT ATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	214	0.0047	52	c.92+ others(67): Show c.92+3850_92+3851insTATACATATATATATATATATGTATATATA TATACATATATATATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036319	G G	GTATATAT others(45): Show GTATATATATATATATGTATATATATATACATATATATATATATATGTAT ATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01175.hp2 HG03710.hp1 others(6): Show HG01074.hp1 HG01175.hp2 HG03710.hp1 NA18612.hp2 NA19003.hp1 NA19003.hp2 NA19054.hp1 NA19060.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0004t0001	a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 others(6): Show a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0012g0124 a0001c0001t0013g0126 a0001c0004t0001g0121	9	214	0.0421	52	c.92+ others(67): Show c.92+3850_92+3851insTATATACATATATATATATATATGTATATA TATATACATATATATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036319	G G	GTATATAT others(45): Show GTATATATATATATATGTATATATATATACATATATATATATATATGTGT ATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	214	0.0047	52	c.92+ others(67): Show c.92+3850_92+3851insTATACACATATATATATATATATGTATATA TATATACATATATATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64036319	G G	GTATATAT others(45): Show GTATATATATATATATGTATATATATATATACATATATATATATATATGT ATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	214	0.0047	52	c.92+ others(67): Show c.92+3850_92+3851insTATACATATATATATATATATGTATATATA TATATACATATATATATATATA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DCDC1_chr11_30858603_31374739	31250415	C C	CACACACA others(45): Show CACACACACACACACACACATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	152	0.0066	52	c.105 others(71): Show c.1055-8800_1055-8799insATATATATATATATATATATATATAT ATATATATGTGTGTGTGTGTGTGTGT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCDC1_chr11_30858603_31374739	31250415	C C	CACACATA others(45): Show CACACATATACATATACATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0119 a0001c0006t0002g0119	1	152	0.0066	52	c.105 others(71): Show c.1055-8800_1055-8799insATATATATATATATATATATATATAT ATATATATATGTATATGTATATGTGT	DCDC1	ENSG00000170959.15	transcript	ENST00000684477.1	protein_coding	8/38			chr11	TogoVar
DCLK1_chr13_35763652_36136382	35847623	A A	AAAAGAAA others(45): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	230	0.0044	52	c.103 others(71): Show c.1035+6875_1035+6876insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	6/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150195318	T T	TATATTAT others(45): Show TATATTATATATTATATATATTATATAATATTATATATTATATATATTAT ATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0054 a0002c0002t0004g0054	1	116	0.0086	52	c.859 others(69): Show c.859+2089_859+2140dupTTATATATATTATATAATATTATATATT ATATATATTATATAATATTATATA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251056	T T	TCCCTCAC others(45): Show TCCCTCACACCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCA CAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	116	0.0086	52	c.207 others(71): Show c.2073+1375_2073+1376insTCACACCCCCCACACCCCCCACACCA CACATCCCTCACACCCCCCACACCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(45): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	318	0.0031	52	c.12 others(65): Show c.12593_*12594insTATATATATATATATATATATAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DDX20_chr1_111750901_111773000	111755128	C C	CTGCGGAG others(45): Show CTGCGGAGGCGGATGCATGGAGGCAGATGCGGAGGCGGATGCATGGAGGC GGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00741.hp2 others(18): Show HG00140.hp1 HG00280.hp1 HG00741.hp2 HG01069.hp2 HG01261.hp2 HG01516.hp2 HG02559.hp2 HG02698.hp1 HG02976.hp2 HG03041.hp2 HG03490.hp1 HG03492.hp2 HG03704.hp1 HG04184.hp1 NA18612.hp1 NA18747.hp1 NA18953.hp1 NA18961.hp2 NA18990.hp2 NA19010.hp1 NA19080.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0043 a0002c0004t0001g0044 others(2): Show a0002c0004t0001g0005 a0002c0004t0001g0043 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0065	21	404	0.0520	52	c.-79 others(61): Show c.-797_-796insTGCGGAGGCGGATGCATGGAGGCAGATGCGGAGGCG GATGCATGGAGGCGGA	DDX20	ENSG00000064703.13	transcript	ENST00000369702.5	protein_coding		772		chr1	TogoVar
DDX28_chr16_68015916_68028232	68020864	T T	TATATATA others(45): Show TATATATATACATACGTGTATATATATATATATACACATACATATATATA TAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG03098.hp2 HG01433.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	390	0.0051	52	c.71 others(61): Show c.715_*716insGTATATATATATGTATGTGTATATATATATATATAC ACGTATGTATATATAT	DDX28	ENSG00000182810.7	transcript	ENST00000332395.7	protein_coding		51		chr16	TogoVar
DDX31_chr9_132587997_132674983	132632238	G G	GTACACAC others(45): Show GTACACACACACACACACACACACACACACACACACACACACACACACAG TCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18977.hp1 HG02074.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0287 a0001c0001t0001g0262 a0001c0001t0001g0287	2	402	0.0050	52	c.144 others(69): Show c.1441-148_1441-147insGGACTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTA	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632239	T T	TACACACA others(45): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	402	0.0025	52	c.144 others(69): Show c.1441-149_1441-148insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGT	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632244	A A	ACACACAC others(45): Show ACACACACACACACACACACACACACACACACACACACACACACACAGTC CTG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	402	0.0025	52	c.144 others(69): Show c.1441-154_1441-153insCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTG	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632250	A A	ACACACAC others(45): Show ACACACACACACACACACACACACACACACACACACACACACACACAGTC CTG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18982.hp2 NA18998.hp1 NA18968.hp1 NA18982.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0254 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0254	3	402	0.0075	52	c.144 others(69): Show c.1441-160_1441-159insCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTG	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632252	A A	ACACACAC others(45): Show ACACACACACACACACACACACACACACACACACACACACACACACAGTC CTG	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	402	0.0025	52	c.144 others(69): Show c.1441-213_1441-162dupCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTG	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX47_chr12_12808346_12834981	12809758	G G	GTATATAT others(45): Show GTATATATATATATATATATATATATATATATATATATATATATATGTAT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	450	0.0022	52	c.-36 others(63): Show c.-3610_-3609insTATATATATATATATATATATATATATATATATA TATATATATATGTATATA	DDX47	ENSG00000213782.7	transcript	ENST00000358007.7	protein_coding		3587		chr12	TogoVar
DDX47_chr12_12808346_12834981	12809758	G G	GTATATAT others(45): Show GTATATATATATATATATATATATATATATATATATATATATGTATATAT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	450	0.0022	52	c.-36 others(63): Show c.-3610_-3609insTATATATATATATATATATATATATATATATATA TATATATGTATATATATA	DDX47	ENSG00000213782.7	transcript	ENST00000358007.7	protein_coding		3587		chr12	TogoVar
DDX60L_chr4_168351735_168485492	168459774	G G	GGGAAGGA others(45): Show GGGAAGGAAGGAAGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0025 a0025	a0025c0045 a0025c0045	a0025c0045t0001 a0025c0045t0001	a0025c0045t0001g0129 a0025c0045t0001g0129	1	268	0.0037	52	c.607 others(69): Show c.607-1767_607-1766insTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCCTCCTTCCTTCCTTCC	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	5/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168285720	T T	TATGCATG others(45): Show TATGCATGGGGGATGGGTGGGTGGATATGCATGGGGGATGGGTGGGTGAA TGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2	a0002 a0012 a0002 a0012	a0002c0007 a0012c0025 a0002c0007 a0012c0025	a0002c0007t0001 a0012c0025t0001 a0002c0007t0001 a0012c0025t0001	a0002c0007t0001g0224 a0002c0007t0001g0225 a0012c0025t0001g0129 a0002c0007t0001g0224 a0002c0007t0001g0225 a0012c0025t0001g0129	3	270	0.0111	52	c.134 others(69): Show c.1340-274_1340-223dupCCATTCACCCACCCATCCCCCATGCATA TCCACCCACCCATCCCCCATGCAT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	10/37			chr4	TogoVar
DEF8_chr16_89943755_89973060	89946758	T T	TTGTTGGG others(45): Show TTGTTGGGGAGAGGAGCCAGGAGGTGAAGGTGGGGGTGGGGGTGGGCCTG GCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03041.hp1 NA21309.hp2 HG02622.hp1 HG03041.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0141 a0001c0002t0001g0145 a0001c0001t0001g0019 a0001c0001t0001g0141 a0001c0002t0001g0145	3	392	0.0077	52	c.-21 others(63): Show c.-2164_-2163insTGTTGGGGAGAGGAGCCAGGAGGTGAAGGTGGGG GTGGGGGTGGGCCTGGCC	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding		1996		chr16	TogoVar
DEF8_chr16_89943755_89973060	89946789	G G	GGGGGTGG others(45): Show GGGGGTGGGGGTGGGCCTGGCCTGTTGGGGAGAGGAGCCAGGAGGTGAAG GTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG02647.hp1 others(10): Show HG01891.hp1 HG02486.hp1 HG02647.hp1 HG02735.hp2 HG03130.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0047 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0003g0103	13	392	0.0332	52	c.-21 others(63): Show c.-2133_-2132insGGGGTGGGGGTGGGCCTGGCCTGTTGGGGAGAGG AGCCAGGAGGTGAAGGTA	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding		1965		chr16	TogoVar
DEFA1B_chr8_6991766_7004198	6993362	T T	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	1	398	0.0025	52	c.35 others(63): Show c.3524_*3525insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	DEFA1B	ENSG00000240247.8	transcript	ENST00000382689.8	protein_coding		3403		chr8	TogoVar
DEFB131A_chr4_9439414_9455666	9454385	T T	TGACAAAG others(45): Show TGACAAAGCCTTTTCCATTGTATGCATCAGAGAGAGAAAAGATGGCTGCT GGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	52	c.38 others(63): Show c.3871_*3872insGACAAAGCCTTTTCCATTGTATGCATCAGAGAGA GAAAAGATGGCTGCTGGA	DEFB131A	ENSG00000186146.2	transcript	ENST00000334879.2	protein_coding		3720		chr4	TogoVar
DENND1A_chr9_123374658_123935126	123495141	T T	TTCTCTCT others(45): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	162	0.0062	52	c.994 others(71): Show c.994-37245_994-37244insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711487	A A	AAATATAT others(45): Show AAATATATATATATATGTATATATGTATATATATATATATATATGTATAT ATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19030.hp1 HG01109.hp2 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0011 a0001c0008t0001 a0001c0006t0011 a0001c0008t0001	a0001c0006t0011g0160 a0001c0008t0001g0064 a0001c0006t0011g0160 a0001c0008t0001g0064	2	162	0.0124	52	c.303 others(71): Show c.303-34699_303-34698insCATATATACATATATATATATATATA TACATATATACATATATATATATATT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711513	G G	GTATATAT others(45): Show GTATATATATATATATATATGTATATATGTATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0093 a0001c0008t0007g0093	1	162	0.0062	52	c.303 others(71): Show c.303-34725_303-34724insTATATATATATATATATATATATACA TATATACATATATATATATATATATA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENR_chr12_122747824_122776064	122769252	A A	ACACATAT others(45): Show ACACATATATGTATACATATATACACATATGTATACATATATACACATAT ATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0002 a0001c0001t0023g0002	1	364	0.0028	52	c.17 others(61): Show c.174_*175insCACATATATGTATACATATATACACATATGTATACA TATATACACATATATG	DENR	ENSG00000139726.11	transcript	ENST00000280557.11	protein_coding	8/8	175		chr12	TogoVar
DEPDC1B_chr5_60591912_60705166	60667360	T T	TAAAATGG others(45): Show TAAAATGGATATTTTACATATATACAAAAAATGGATATTTTACATATATA CAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01496.hp1 HG02683.hp1 others(3): Show HG00280.hp2 HG01496.hp1 HG02683.hp1 HG02895.hp2 HG02897.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0001g0115 a0001c0001t0001g0117 others(3): Show a0001c0001t0001g0074 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0002g0072 a0001c0001t0002g0073	6	292	0.0206	52	c.314 others(71): Show c.314+19550_314+19601dupTTGTATATATGTAAAATATCCATTTT TTGTATATATGTAAAATATCCATTTT	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60667903	T T	TTACATAT others(45): Show TTACATATATATAAAAAATGGATATTTTATATATATAAAAAATGGATATT TTA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	292	0.0034	52	c.314 others(71): Show c.314+19058_314+19059insTAAAATATCCATTTTTTATATATATA AAATATCCATTTTTTATATATATGTA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668158	A A	ATTTTATA others(45): Show ATTTTATATATATATAAAATGGATATTTTATATATATATATAAAATGGAT ATT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03710.hp1 HG03704.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0025 a0001c0001t0001g0027	2	292	0.0069	52	c.314 others(71): Show c.314+18803_314+18804insAATATCCATTTTATATATATATATAA AATATCCATTTTATATATATATAAAA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668233	T T	TTATATAT others(45): Show TTATATATATATAAAATGGATATTTTATATATATATATAAAATGGATATT ATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	292	0.0034	52	c.314 others(71): Show c.314+18728_314+18729insTATAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DESI1_chr22_41593028_41626043	41594408	G G	GGGGGAGG others(45): Show GGGGGAGGCGGTGGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGGC GGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	308	0.0033	52	c.66 others(63): Show c.6688_*6689insACCGCCTCCCCCACCCCCCCACCGCCTCCCCCAC CCCCCCCACCGCCTCCCC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3619		chr22	TogoVar
DFFA_chr1_10451522_10477529	10455699	T T	TTATCCAG others(45): Show TTATCCAGGATGGCCTCGATCTCTTGACCCCGTGATCCGCCCGTCTCGGC CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0050 a0002c0002t0030g0050	1	438	0.0023	52	c.57 others(63): Show c.5790_*5791insGAGGCCGAGACGGGCGGATCACGGGGTCAAGAGA TCGAGGCCATCCTGGATA	DFFA	ENSG00000160049.12	transcript	ENST00000377038.8	protein_coding		822		chr1	TogoVar
DGKG_chr3_186142201_186367234	186223011	C C	CTATATAT others(45): Show CTATATATATATATATATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0159 a0003c0004t0005g0159	1	234	0.0043	52	c.182 others(73): Show c.1827-11127_1827-11126insTATATATATATATATATATATATA TATATATATATATATATATATATATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	20/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186355194	A A	ATACCACC others(45): Show ATACCACCACCAACACCACTATCGTCAACTCCCCACACAACTACCATCAC CGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00639.hp1 others(67): Show HG00280.hp2 HG00544.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01975.hp1 HG01978.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp1 NA18964.hp1 NA18965.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18999.hp2 NA19030.hp1 NA19043.hp2 NA19085.hp2 NA19086.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0002 a0001c0003 a0001c0009 others(11): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0012 a0001c0015 a0001c0021 a0002c0001 a0002c0005 a0003c0004 a0003c0006 a0004c0008 a0004c0017 a0007c0013	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(50): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0038 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0011 a0001c0003t0014 a0001c0003t0019 a0001c0003t0021 a0001c0003t0032 a0001c0003t0042 a0001c0003t0044 a0001c0009t0007 a0001c0010t0015 a0001c0010t0030 a0001c0012t0011 a0001c0015t0003 a0001c0021t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0005 a0002c0001t0008 a0002c0001t0010 a0002c0001t0012 a0002c0001t0015 a0002c0001t0017 a0002c0001t0022 a0002c0001t0031 a0002c0001t0039 a0002c0001t0040 a0002c0005t0001 a0003c0004t0001 a0003c0004t0004 a0003c0004t0007 a0003c0006t0004 a0003c0006t0013 a0004c0008t0005 a0004c0008t0023 a0004c0017t0007 a0007c0013t0002	a0001c0002t0001g0028 a0001c0002t0001g0085 a0001c0002t0002g0022 others(67): Show a0001c0002t0001g0028 a0001c0002t0001g0085 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0154 a0001c0002t0002g0157 a0001c0002t0003g0202 a0001c0002t0006g0029 a0001c0002t0007g0018 a0001c0002t0008g0199 a0001c0002t0008g0228 a0001c0002t0009g0208 a0001c0002t0010g0161 a0001c0002t0011g0204 a0001c0002t0012g0088 a0001c0002t0038g0234 a0001c0003t0001g0025 a0001c0003t0004g0039 a0001c0003t0005g0057 a0001c0003t0005g0108 a0001c0003t0007g0089 a0001c0003t0008g0220 a0001c0003t0011g0223 a0001c0003t0014g0205 a0001c0003t0019g0086 a0001c0003t0021g0008 a0001c0003t0021g0020 a0001c0003t0032g0037 a0001c0003t0042g0221 a0001c0003t0044g0233 a0001c0009t0007g0015 a0001c0010t0015g0095 a0001c0010t0030g0149 a0001c0012t0011g0224 a0001c0015t0003g0225 a0001c0021t0003g0222 a0002c0001t0001g0038 a0002c0001t0001g0153 a0002c0001t0002g0023 a0002c0001t0002g0031 a0002c0001t0002g0034 a0002c0001t0003g0172 a0002c0001t0003g0217 a0002c0001t0003g0232 a0002c0001t0004g0155 a0002c0001t0005g0017 a0002c0001t0008g0173 a0002c0001t0010g0206 a0002c0001t0012g0002 a0002c0001t0012g0104 a0002c0001t0015g0087 a0002c0001t0017g0005 a0002c0001t0022g0197 a0002c0001t0031g0109 a0002c0001t0039g0203 a0002c0001t0040g0227 a0002c0005t0001g0096 a0003c0004t0001g0026 a0003c0004t0004g0035 a0003c0004t0007g0009 a0003c0006t0004g0032 a0003c0006t0013g0021 a0004c0008t0005g0027 a0004c0008t0023g0207 a0004c0017t0007g0150 a0007c0013t0002g0024	70	234	0.2992	52	c.-24 others(71): Show c.-249+6700_-249+6751dupGCGGTGATGGTAGTTGTGTGGGGAGT TGACGATAGTGGTGTTGGTGGTGGTA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186355242	A A	ACCGCTAC others(45): Show ACCGCTACCACCACCAACACCACTATCGTCAACTCCCCACACAACTACCA TCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG03098.hp1 others(3): Show HG02257.hp1 HG02572.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0003 a0001c0002t0008 a0001c0003t0003 others(2): Show a0001c0002t0003 a0001c0002t0008 a0001c0003t0003 a0002c0001t0008 a0002c0001t0009	a0001c0002t0003g0165 a0001c0002t0008g0163 a0001c0003t0003g0162 others(3): Show a0001c0002t0003g0165 a0001c0002t0008g0163 a0001c0003t0003g0162 a0002c0001t0008g0166 a0002c0001t0009g0164 a0002c0001t0009g0167	6	234	0.0256	52	c.-24 others(71): Show c.-249+6703_-249+6704insCGATGGTAGTTGTGTGGGGAGTTGAC GATAGTGGTGTTGGTGGTGGTAGCGG	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DGKI_chr7_137376037_137851974	137638531	C C	CATATATG others(45): Show CATATATGTATATATACACATATATACATATATGTGTATATATACACATA TAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0031 a0001c0011t0001g0031	1	94	0.0106	52	c.804 others(69): Show c.804+6940_804+6941insATATATGTGTATATATACACATATATGT ATATATGTGTATATATACATATAT	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	6/32			chr7	TogoVar
DGKK_chrX_50360409_50475825	50447331	T T	TATATATA others(45): Show TATATATATATATTATATATATATATAATATATATATATTATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	248	0.0040	52	c.645 others(71): Show c.645+22651_645+22702dupTATATATATATATAATATATATATAT TATATATATATATAATATATATATAT	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97129142	T T	TTTCTTTT others(45): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTT TTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	147	0.0068	52	c.259 others(73): Show c.2590-12521_2590-12520insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTCTTTTCTTTTCTTTTCTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	21/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIP2B_chr12_50499985_50753657	50593840	C C	CCCTGTCC others(45): Show CCCTGTCCCCTCCCCTCCCGTCCCCTTCCCTCCCCTCCCCTCCCCTCCCC TCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0047 a0001c0003t0002g0047	1	284	0.0035	52	c.101 others(71): Show c.101-32133_101-32132insGTCCCCTCCCCTCCCGTCCCCTTCCC TCCCCTCCCCTCCCCTCCCCTCTCCT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598789	C C	CCCCCCTC others(45): Show CCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCC CCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	284	0.0035	52	c.101 others(71): Show c.101-27183_101-27182insCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	408171	A A	AGTTTTCC others(45): Show AGTTTTCCCAGCACTGTGTGTTGGAAAGGCTGTCCTTTCCCCATGGATGT CCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0009 a0001c0017t0009	a0001c0017t0009g0073 a0001c0017t0009g0073	1	88	0.0114	52	c.114 others(69): Show c.1149+754_1149+755insCGGACATCCATGGGGAAAGGACAGCCTT TCCAACACACAGTGCTGGGAAAAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	9/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608114	C C	CCACACAC others(45): Show CCACACACACACACACACACAGCCCCTACACACACACACACACACAGCCC CTA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0011 a0001c0019t0003g0011	1	88	0.0114	52	c.85+ others(69): Show c.85+81379_85+81380insTAGGGGCTGTGTGTGTGTGTGTGTGTAG GGGCTGTGTGTGTGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar

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