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
KIAA0586_chr14_58422719_58556297	58484924	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02083.hp1 NA18957.hp1 HG00597.hp2 HG02083.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0003g0110 a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0003g0110	3	300	0.0100	30	c.314 others(49): Show c.3145-2082_3145-2081insATATATATATATATATATATTTTTTT TTTT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0586_chr14_58422719_58556297	58507198	A A	ATATATGT others(23): Show ATATATGTATGATTTATATATATAAATCATC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0128 a0001c0001t0010g0128	1	300	0.0033	30	c.416 others(49): Show c.4169-1335_4169-1306dupTAAATCATCTATATGTATGATTTATA TATA	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	27/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0825_chr5_94145851_94623604	94152855	A A	AAAAAAAA others(23): Show AAAAAAAAATTATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0049 a0001c0007t0014g0049	1	54	0.0185	30	c.11 others(41): Show c.1151_*1152insATATATATATATATATATATAATTTTTTTT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	21/21	1151		chr5	TogoVar
KIAA0930_chr22_45187244_45245894	45229010	C C	CTCACCCG others(23): Show CTCACCCGAAAGATCCCTCTCCACCCCCCTA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0196 a0001c0001t0089g0196	1	398	0.0025	30	c.64+ others(47): Show c.64+11629_64+11630insTAGGGGGGTGGAGAGGGATCTTTCGGGT GA	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229012	A A	ACCTGAGA others(23): Show ACCTGAGAGATCCCTCTCCACCCCCGCCATC	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19079.hp1 HG00423.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0132 a0001c0001t0001 a0001c0001t0132	a0001c0001t0001g0361 a0001c0001t0132g0119 a0001c0001t0001g0361 a0001c0001t0132g0119	2	398	0.0050	30	c.64+ others(47): Show c.64+11627_64+11628insGATGGCGGGGGTGGAGAGGGATCTCTCA GG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229053	A A	ACCTGAGA others(23): Show ACCTGAGAGATCCCTCTCCACCCCCGCCATC	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18954.hp1 HG02630.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0213 a0001c0001t0021g0381 a0001c0001t0004g0213 a0001c0001t0021g0381	2	398	0.0050	30	c.64+ others(47): Show c.64+11586_64+11587insGATGGCGGGGGTGGAGAGGGATCTCTCA GG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229094	A A	ACCTGAGA others(23): Show ACCTGAGAGATCCCTCTCCACCCCCGCCATC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0082 a0001c0001t0043g0083 a0001c0001t0043g0082 a0001c0001t0043g0083	2	398	0.0050	30	c.64+ others(47): Show c.64+11545_64+11546insGATGGCGGGGGTGGAGAGGGATCTCTCA GG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1210_chrX_119073635_119132812	119125714	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0154 a0002c0002t0002g0154	1	261	0.0038	30	c.-11 others(47): Show c.-11+2012_-11+2013insATATATATATATATATATATATATATAT AT	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1210_chrX_119073635_119132812	119125735	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	261	0.0038	30	c.-11 others(47): Show c.-11+1991_-11+1992insAATATATATATATATATATATATATATA TA	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1210_chrX_119073635_119132812	119125735	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	261	0.0038	30	c.-11 others(47): Show c.-11+1991_-11+1992insAAAAAAAAAATATATATATATATATATA TA	KIAA1210	ENSG00000250423.3	transcript	ENST00000691062.1	protein_coding	1/11			chrX	TogoVar
KIAA1217_chr10_24204138_24552843	24520651	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0083 a0001c0083	a0001c0083t0004 a0001c0083t0004	a0001c0083t0004g0054 a0001c0083t0004g0054	1	240	0.0042	30	c.230 others(47): Show c.2308+399_2308+400insAAAAAATATATATATATATATATATATA TA	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1217_chr10_24204138_24552843	24520675	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0203 a0001c0006t0005g0203	1	240	0.0042	30	c.230 others(47): Show c.2308+423_2308+424insTATATATATATATATATATATATATATA CA	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1328_chr18_36824127_37230334	36883952	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG01109.hp2 others(3): Show HG00140.hp2 HG01109.hp1 HG01109.hp2 HG03453.hp2 HG03654.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0007t0005	a0001c0001t0001g0058 a0001c0002t0001g0049 a0001c0002t0001g0079 others(3): Show a0001c0001t0001g0058 a0001c0002t0001g0049 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0006t0001g0050 a0001c0007t0005g0046	6	200	0.0300	30	c.333 others(47): Show c.333-1587_333-1586insTATATATATATATATATATATATATATA TA	KIAA1328	ENSG00000150477.15	transcript	ENST00000280020.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIAA1328_chr18_36824127_37230334	36883952	G G	GTATATGT others(23): Show GTATATGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG04184.hp2 homoSapiens_chm13v2.hp1 HG03130.hp2 HG04184.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0004 a0003c0005t0004 a0001c0003t0004 a0003c0005t0004	a0001c0003t0004g0191 a0001c0003t0004g0199 a0003c0005t0004g0194 a0001c0003t0004g0191 a0001c0003t0004g0199 a0003c0005t0004g0194	3	200	0.0150	30	c.333 others(47): Show c.333-1600_333-1599insGTGTATATATATATATATATATATATAT AT	KIAA1328	ENSG00000150477.15	transcript	ENST00000280020.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIAA1328_chr18_36824127_37230334	36883969	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	200	0.0050	30	c.333 others(47): Show c.333-1587_333-1586insTATATATATATATATATATATATATATA CA	KIAA1328	ENSG00000150477.15	transcript	ENST00000280020.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIAA1549L_chr11_33371108_33679102	33435810	A A	ATATATGT others(23): Show ATATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0003 a0001c0020t0003	a0001c0020t0003g0069 a0001c0020t0003g0069	1	226	0.0044	30	c.238 others(49): Show c.238+58922_238+58923insATATGTGTGTGTGTGTGTGTGTGTGT GTGT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33435810	A A	ATATGTGT others(23): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0010 a0001c0041t0010	a0001c0041t0010g0086 a0001c0041t0010g0086	1	226	0.0044	30	c.238 others(49): Show c.238+58922_238+58923insATGTGTGTGTGTGTGTGTGTGTGTGT GTGT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33435818	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0019 a0001c0024t0019	a0001c0024t0019g0108 a0001c0024t0019g0108	1	226	0.0044	30	c.238 others(49): Show c.238+58930_238+58931insGTGTGTGTGTGTGTGTGTGTGTGTGT GTAT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1614_chr1_180907897_180956614	180924886	A A	AAATAATA others(23): Show AAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03239.hp1 HG02698.hp1 HG03239.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0046 a0002c0002 a0009c0046	a0002c0002t0025 a0009c0046t0077 a0002c0002t0025 a0009c0046t0077	a0002c0002t0025g0176 a0009c0046t0077g0204 a0002c0002t0025g0176 a0009c0046t0077g0204	2	430	0.0047	30	c.106 others(49): Show c.1062-3521_1062-3520insTAATAATAATAATAATAATAATAATA ATAA	KIAA1614	ENSG00000135835.12	transcript	ENST00000367588.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIAA1671_chr22_24947716_25202448	25093832	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTGTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02896.hp2 HG00741.hp1 HG02896.hp2	a0001 a0010 a0001 a0010	a0001c0012 a0010c0048 a0001c0012 a0010c0048	a0001c0012t0015 a0010c0048t0011 a0001c0012t0015 a0010c0048t0011	a0001c0012t0015g0074 a0010c0048t0011g0084 a0001c0012t0015g0074 a0010c0048t0011g0084	2	254	0.0079	30	c.453 others(51): Show c.4530+44469_4530+44470insCTCTCTCTCTCTGTCTCTCTCTCT CTCTGT	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIAA2012_chr2_202068255_202210188	202133109	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0010 a0003c0006t0001g0010	1	312	0.0032	30	c.183 others(49): Show c.1832-5322_1832-5321insAAAAAATATATATATATATATATATA TATA	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	312	0.0032	30	c.183 others(49): Show c.1832-5301_1832-5300insATATATATATATATATATTTTTTTTT TTTT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01071.hp2 HG00280.hp1 HG01071.hp2	a0003 a0006 a0003 a0006	a0003c0006 a0006c0007 a0003c0006 a0006c0007	a0003c0006t0001 a0006c0007t0001 a0003c0006t0001 a0006c0007t0001	a0003c0006t0001g0064 a0006c0007t0001g0071 a0003c0006t0001g0064 a0006c0007t0001g0071	2	312	0.0064	30	c.183 others(49): Show c.1832-5301_1832-5300insATATATATATATATTTTTTTTTTTTT TTTT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0087 a0006c0007t0001g0087	1	312	0.0032	30	c.183 others(49): Show c.1832-5301_1832-5300insATATATATATATTTTTTTTTTTTTTT TTTT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIAA2012_chr2_202068255_202210188	202133130	A A	ATATATAT others(23): Show ATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0093 a0006c0007t0001g0093	1	312	0.0032	30	c.183 others(49): Show c.1832-5301_1832-5300insATATATATATTTTTTTTTTTTTTTTT TTTT	KIAA2012	ENSG00000182329.14	transcript	ENST00000498697.3	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
KIF13A_chr6_17758693_17992635	17821552	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG02056.hp2 others(9): Show HG00099.hp2 HG00323.hp2 HG02056.hp2 HG02080.hp2 HG03688.hp2 HG04115.hp1 HG04228.hp1 NA18946.hp1 NA18984.hp1 NA18990.hp1 NA19003.hp2 NA19004.hp2	a0001 a0015 a0001 a0015	a0001c0002 a0001c0003 a0001c0007 others(4): Show a0001c0002 a0001c0003 a0001c0007 a0001c0021 a0001c0036 a0001c0045 a0015c0024	a0001c0002t0002 a0001c0003t0001 a0001c0007t0001 others(4): Show a0001c0002t0002 a0001c0003t0001 a0001c0007t0001 a0001c0021t0001 a0001c0036t0005 a0001c0045t0001 a0015c0024t0002	a0001c0002t0002g0044 a0001c0002t0002g0061 a0001c0002t0002g0175 others(9): Show a0001c0002t0002g0044 a0001c0002t0002g0061 a0001c0002t0002g0175 a0001c0002t0002g0184 a0001c0002t0002g0217 a0001c0003t0001g0105 a0001c0003t0001g0241 a0001c0007t0001g0013 a0001c0021t0001g0152 a0001c0036t0005g0160 a0001c0045t0001g0281 a0015c0024t0002g0168	12	282	0.0426	30	c.178 others(49): Show c.1786+4186_1786+4215dupACACACACACACACACACACACACAC ACAC	KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	16/38			chr6	TogoVar
KIF13B_chr8_29062278_29268070	29098170	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA20129.hp2 HG02074.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0150 a0001c0001t0003g0152	2	288	0.0069	30	c.432 others(47): Show c.4324+962_4324+963insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	36/39			chr8	TogoVar
KIF13B_chr8_29062278_29268070	29228472	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02647.hp2 HG00738.hp1 HG02647.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0019 a0001c0001 a0003c0019	a0001c0001t0039 a0003c0019t0010 a0001c0001t0039 a0003c0019t0010	a0001c0001t0039g0288 a0003c0019t0010g0287 a0001c0001t0039g0288 a0003c0019t0010g0287	2	288	0.0069	30	c.149 others(49): Show c.149+16873_149+16874insATATATATATATATATATATATATAT ATTT	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	2/39			chr8	TogoVar
KIF14_chr1_200546500_200625751	200548793	C C	CACACACA others(23): Show CACACACACACACACACACATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0029	1	390	0.0026	30	c.45 others(41): Show c.4594_*4595insATATATATATATGTGTGTGTGTGTGTGTGT	KIF14	ENSG00000118193.12	transcript	ENST00000367350.5	protein_coding		2706		chr1	TogoVar
KIF14_chr1_200546500_200625751	200548793	C C	CACACACA others(23): Show CACACACACACACACATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0031 a0001c0001t0007g0031	1	390	0.0026	30	c.45 others(41): Show c.4594_*4595insATATATATATATATATGTGTGTGTGTGTGT	KIF14	ENSG00000118193.12	transcript	ENST00000367350.5	protein_coding		2706		chr1	TogoVar
KIF14_chr1_200546500_200625751	200548793	C C	CACACACA others(23): Show CACACACACACACATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0030 a0001c0001t0007g0030	1	390	0.0026	30	c.45 others(41): Show c.4594_*4595insATATATATATATATATATGTGTGTGTGTGT	KIF14	ENSG00000118193.12	transcript	ENST00000367350.5	protein_coding		2706		chr1	TogoVar
KIF14_chr1_200546500_200625751	200573427	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0080 a0001c0004t0016g0080	1	390	0.0026	30	c.356 others(49): Show c.3566+2163_3566+2164insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	KIF14	ENSG00000118193.12	transcript	ENST00000367350.5	protein_coding	22/29			chr1	TogoVar
KIF16B_chr20_16267104_16578448	16409980	T T	TATATGTA others(23): Show TATATGTAGGTACATATATATATGTAGGTAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0149 a0001c0028t0001g0149	1	250	0.0040	30	c.161 others(49): Show c.1613-3525_1613-3524insGTACCTACATATATATATGTACCTAC ATAT	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	15/25			chr20	TogoVar
KIF18B_chr17_44919711_44952773	44951927	C C	CTCTCTCT others(23): Show CTCTCTCTCTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	406	0.0025	30	c.-43 others(41): Show c.-4315_-4314insTATATATATATATATATATATAGAGAGAGA	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4155		chr17	TogoVar
KIF18B_chr17_44919711_44952773	44951927	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0094 a0001c0001t0004g0094	1	406	0.0025	30	c.-43 others(41): Show c.-4315_-4314insTATATATATATATATATATAGAGAGAGAGA	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4155		chr17	TogoVar
KIF18B_chr17_44919711_44952773	44951927	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	406	0.0025	30	c.-43 others(41): Show c.-4315_-4314insTATATATATATATATAGAGAGAGAGAGAGA	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4155		chr17	TogoVar
KIF18B_chr17_44919711_44952773	44951927	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	406	0.0025	30	c.-43 others(41): Show c.-4315_-4314insTATATATATATATAGAGAGAGAGAGAGAGA	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4155		chr17	TogoVar
KIF18B_chr17_44919711_44952773	44951927	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	406	0.0025	30	c.-43 others(41): Show c.-4315_-4314insTATATATATATAGAGAGAGAGAGAGAGAGA	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4155		chr17	TogoVar
KIF18B_chr17_44919711_44952773	44951947	A A	ATATATAT others(23): Show ATATATATATATATATATATATGTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0023 a0001c0003t0007g0023	1	406	0.0025	30	c.-43 others(41): Show c.-4335_-4334insCATATATACATATATATATATATATATATA	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4175		chr17	TogoVar
KIF18B_chr17_44919711_44952773	44951947	A A	ATATATAT others(23): Show ATATATATATATATGTATATATGTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02922.hp2 HG02723.hp1 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0024 a0001c0003t0007g0025 a0001c0003t0007g0024 a0001c0003t0007g0025	2	406	0.0049	30	c.-43 others(41): Show c.-4335_-4334insCATATATACATATATACATATATATATATA	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4175		chr17	TogoVar
KIF19_chr17_74321226_74360820	74340555	G G	GCGCGCGC others(23): Show GCGCGCGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0293 a0002c0001t0001g0293	1	412	0.0024	30	c.121 others(47): Show c.121-1321_121-1320insCGCGCGCACACACACACACACACACACA CA	KIF19	ENSG00000196169.15	transcript	ENST00000389916.5	protein_coding	2/19			chr17	TogoVar
KIF1A_chr2_240708767_240825219	240778511	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02280.hp2 HG01496.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0017 a0001c0005 a0001c0017	a0001c0005t0005 a0001c0017t0004 a0001c0005t0005 a0001c0017t0004	a0001c0005t0005g0033 a0001c0017t0004g0032 a0001c0005t0005g0033 a0001c0017t0004g0032	2	330	0.0061	30	c.883 others(47): Show c.883-2615_883-2586dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240780936	A A	ACACACAC others(23): Show ACACACACACAGCGCCACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0279 a0002c0001t0011g0279	1	330	0.0030	30	c.882 others(47): Show c.882+1653_882+1654insGAGCTGTGTGTGTGTGGCGCTGTGTGTG TG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240780936	A A	ACACACAC others(23): Show ACACACACACAGCTCCACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0004 a0004c0016t0004	a0004c0016t0004g0007 a0004c0016t0004g0007	1	330	0.0030	30	c.882 others(47): Show c.882+1653_882+1654insGAGCTGTGTGTGTGTGGAGCTGTGTGTG TG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240780982	A A	ACACACAG others(23): Show ACACACAGCTCCACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0028 a0001c0053t0028	a0001c0053t0028g0144 a0001c0053t0028g0144	1	330	0.0030	30	c.882 others(47): Show c.882+1607_882+1608insGAGCTGTGTGTGTGTGTGTGGAGCTGTG TG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781049	A A	ACACAGCT others(23): Show ACACAGCTCCACACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG01168.hp2 others(3): Show HG00099.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG02895.hp2	a0002 a0007 a0002 a0007	a0002c0001 a0007c0027 a0002c0001 a0007c0027	a0002c0001t0002 a0002c0001t0006 a0002c0001t0007 others(1): Show a0002c0001t0002 a0002c0001t0006 a0002c0001t0007 a0007c0027t0002	a0002c0001t0002g0193 a0002c0001t0002g0194 a0002c0001t0006g0215 others(3): Show a0002c0001t0002g0193 a0002c0001t0002g0194 a0002c0001t0006g0215 a0002c0001t0006g0216 a0002c0001t0007g0111 a0007c0027t0002g0192	6	330	0.0182	30	c.882 others(47): Show c.882+1540_882+1541insGAGCTGTGTGTGTGTGTGTGTGGAGCTG TG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781087	C C	CCACACAC others(23): Show CCACACACACACACACACAGCTCCACACACA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0173 a0002c0001t0001g0173	1	330	0.0030	30	c.882 others(47): Show c.882+1502_882+1503insTGTGTGTGGAGCTGTGTGTGTGTGTGTG TG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781163	C C	CCACACAC others(23): Show CCACACACACACACACACAGCTCCACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp2 HG03195.hp2 others(1): Show HG02257.hp2 HG02970.hp2 HG03195.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0019 a0002c0010 a0001c0002 a0001c0019 a0002c0010	a0001c0002t0010 a0001c0019t0010 a0002c0010t0001 a0001c0002t0010 a0001c0019t0010 a0002c0010t0001	a0001c0002t0010g0005 a0001c0019t0010g0003 a0001c0019t0010g0146 others(1): Show a0001c0002t0010g0005 a0001c0019t0010g0003 a0001c0019t0010g0146 a0002c0010t0001g0130	4	330	0.0121	30	c.882 others(47): Show c.882+1426_882+1427insTGTGTGTGGAGCTGTGTGTGTGTGTGTG TG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781191	A A	ACACACAG others(23): Show ACACACAGCTCCACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0129 a0002c0010t0001g0129	1	330	0.0030	30	c.882 others(47): Show c.882+1398_882+1399insGAGCTGTGTGTGTGTGTGTGGAGCTGTG TG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781193	A A	ACACAGCT others(23): Show ACACAGCTCCACACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG03041.hp1 others(1): Show HG01884.hp2 HG02145.hp2 HG03041.hp1 NA18906.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0009 a0001c0011t0010 a0001c0011t0044 a0001c0011t0009 a0001c0011t0010 a0001c0011t0044	a0001c0011t0009g0149 a0001c0011t0009g0151 a0001c0011t0010g0150 others(1): Show a0001c0011t0009g0149 a0001c0011t0009g0151 a0001c0011t0010g0150 a0001c0011t0044g0153	4	330	0.0121	30	c.882 others(47): Show c.882+1396_882+1397insGAGCTGTGTGTGTGTGTGTGTGGAGCTG TG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar

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