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
UGT1A6_chr2_233687890_233778300	233757535	A A	AATATATA others(23): Show AATATATATACATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01069.hp1 others(22): Show HG00099.hp2 HG00140.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01167.hp2 HG01358.hp1 HG02155.hp1 HG02723.hp2 HG02818.hp2 HG02970.hp2 HG03098.hp2 HG03209.hp2 HG03704.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18965.hp1 NA18990.hp2 NA19062.hp2 NA19077.hp2 NA19081.hp2 NA19091.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0011 a0002c0002 others(2): Show a0001c0001 a0001c0011 a0002c0002 a0003c0005 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0011t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0003c0005t0001 a0004c0003t0001	a0001c0001t0001g0165 a0001c0001t0001g0177 a0001c0001t0002g0129 others(22): Show a0001c0001t0001g0165 a0001c0001t0001g0177 a0001c0001t0002g0129 a0001c0001t0002g0228 a0001c0001t0003g0124 a0001c0001t0003g0237 a0001c0011t0001g0154 a0002c0002t0001g0025 a0002c0002t0001g0029 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0134 a0002c0002t0001g0271 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0280 a0002c0002t0001g0289 a0002c0002t0002g0057 a0002c0002t0003g0268 a0002c0002t0008g0023 a0003c0005t0001g0147 a0004c0003t0001g0139	25	144	0.1736	30	c.862 others(47): Show c.862-9490_862-9489insCATATACATATATATATATATATATATA TA	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233757535	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02071.hp1 HG01515.hp1 HG02071.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0104 a0006c0007t0001g0090 a0001c0001t0001g0104 a0006c0007t0001g0090	2	121	0.0165	30	c.862 others(47): Show c.862-9473_862-9472insATATATATATATATATATATATATATAT AT	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233757535	A A	AATATATA others(23): Show AATATATATACATATACATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0182 a0003c0004t0001g0182	1	111	0.0090	30	c.856 others(47): Show c.856-9490_856-9489insCATATACATATATACATATATATATATA TA	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233757535	A A	AATATATA others(23): Show AATATATATACATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01069.hp2 others(22): Show HG00099.hp1 HG00140.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01358.hp1 HG02155.hp1 HG02723.hp2 HG02818.hp2 HG02970.hp2 HG03098.hp2 HG03209.hp2 HG03704.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18965.hp2 NA18990.hp1 NA19062.hp1 NA19077.hp2 NA19081.hp1 NA19091.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0009	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0004c0005 a0008c0014 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0003c0004t0001 a0003c0004t0002 a0004c0005t0002 a0008c0014t0001 a0009c0012t0003	a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0282 others(22): Show a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0282 a0001c0001t0002g0262 a0001c0001t0003g0258 a0002c0002t0001g0056 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0090 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0103 a0002c0002t0001g0117 a0002c0002t0001g0120 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0003g0087 a0002c0002t0008g0119 a0003c0004t0001g0031 a0003c0004t0002g0185 a0004c0005t0002g0043 a0008c0014t0001g0036 a0009c0012t0003g0176	25	135	0.1852	30	c.856 others(47): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TA	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233757535	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02071.hp2 HG01515.hp1 HG02071.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0007 a0003c0003 a0005c0007	a0003c0003t0001 a0005c0007t0001 a0003c0003t0001 a0005c0007t0001	a0003c0003t0001g0158 a0005c0007t0001g0150 a0003c0003t0001g0158 a0005c0007t0001g0150	2	112	0.0179	30	c.856 others(47): Show c.856-9473_856-9472insATATATATATATATATATATATATATAT AT	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233757535	A A	AATATATA others(23): Show AATATATATACATATACATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	98	0.0102	30	c.856 others(47): Show c.856-9490_856-9489insCATATACATATATACATATATATATATA TA	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233757535	A A	AATATATA others(23): Show AATATATATACATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01069.hp2 others(21): Show HG00099.hp2 HG00140.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01167.hp2 HG01358.hp2 HG02155.hp1 HG02723.hp1 HG02818.hp2 HG02970.hp1 HG03098.hp1 HG03209.hp1 HG03704.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18990.hp2 NA19062.hp2 NA19077.hp2 NA19081.hp1 NA19091.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0003t0002 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0163 a0001c0001t0001g0164 others(21): Show a0001c0001t0001g0009 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0001g0242 a0001c0001t0001g0278 a0001c0001t0002g0283 a0001c0001t0003g0260 a0001c0001t0003g0265 a0001c0001t0003g0279 a0001c0001t0008g0256 a0001c0001t0012g0187 a0001c0003t0002g0240 a0001c0009t0001g0232 a0002c0002t0001g0039 a0002c0002t0001g0046 a0002c0002t0001g0065	24	121	0.1983	30	c.856 others(47): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TA	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233757535	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0092 a0005c0014t0001g0092	1	98	0.0102	30	c.856 others(47): Show c.856-9473_856-9472insATATATATATATATATATATATATATAT AT	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233757535	A A	AATATATA others(23): Show AATATATATACATATACATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0185 a0001c0001t0007g0185	1	112	0.0089	30	c.856 others(47): Show c.856-9490_856-9489insCATATACATATATACATATATATATATA TA	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233757535	A A	AATATATA others(23): Show AATATATATACATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01069.hp2 others(22): Show HG00099.hp2 HG00140.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01358.hp2 HG02155.hp2 HG02723.hp2 HG02818.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp1 HG03704.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18965.hp2 NA18990.hp2 NA19062.hp2 NA19077.hp1 NA19081.hp2 NA19091.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0014t0001	a0001c0001t0001g0077 a0001c0001t0001g0132 a0001c0001t0001g0160 others(22): Show a0001c0001t0001g0077 a0001c0001t0001g0132 a0001c0001t0001g0160 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0002g0140 a0001c0001t0002g0188 a0001c0001t0002g0264 a0001c0001t0003g0071 a0001c0001t0003g0179 a0001c0001t0003g0242 a0001c0001t0009g0215 a0001c0014t0001g0173	25	136	0.1838	30	c.856 others(47): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TA	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233757535	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02071.hp2 HG01515.hp1 HG02071.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0057 a0002c0003t0001g0024 a0001c0001t0001g0057 a0002c0003t0001g0024	2	113	0.0177	30	c.856 others(47): Show c.856-9473_856-9472insATATATATATATATATATATATATATAT AT	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT2B4_chr4_69475165_69500905	69477331	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG01070.hp2 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0037 a0002c0002t0003g0065 a0002c0002t0003g0037 a0002c0002t0003g0065	2	195	0.0103	30	c.33 others(41): Show c.3302_*3303insTATATATATATATATATATATATATATATA	UGT2B4	ENSG00000156096.15	transcript	ENST00000305107.7	protein_coding		2833		chr4	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00642.hp2 others(5): Show HG00280.hp2 HG00642.hp1 HG00642.hp2 HG01515.hp1 HG02055.hp2 NA19068.hp1 NA19074.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0115 a0001c0001t0002g0003 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0115 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0106 a0001c0001t0003g0107	8	322	0.0248	30	c.-10 others(41): Show c.-1077_-1076insTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		984		chr5	TogoVar
UHRF1_chr19_4904501_4967154	4938730	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19011.hp1 HG03579.hp1 NA19011.hp1	a0001 a0001	a0001c0012 a0001c0031 a0001c0012 a0001c0031	a0001c0012t0006 a0001c0031t0009 a0001c0012t0006 a0001c0031t0009	a0001c0012t0006g0233 a0001c0031t0009g0251 a0001c0012t0006g0233 a0001c0031t0009g0251	2	94	0.0213	30	c.786 others(47): Show c.786-2796_786-2767dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	UHRF1	ENSG00000276043.5	transcript	ENST00000650932.1	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UHRF2_chr9_6408199_6512054	6445981	C C	CTTTGTTT others(23): Show CTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp1 HG02717.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0116 a0001c0001t0001g0121	2	102	0.0196	30	c.644 others(49): Show c.644+11811_644+11812insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
UIMC1_chr5_176900006_177011779	176914069	T T	TACCACAC others(23): Show TACCACACCACACCACACCACACCACACCAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0170 a0003c0004t0001g0170	1	280	0.0036	30	c.159 others(49): Show c.1598-2681_1598-2680insGTGGTGTGGTGTGGTGTGGTGTGGTG TGGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	10/14			chr5	TogoVar
ULK1_chr12_131889622_131928150	131917271	C C	CGGAGGCT others(23): Show CGGAGGCTGTGGGATGGGGCTCGGAGGCTGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0133 a0002c0004t0004g0133	1	320	0.0031	30	c.218 others(47): Show c.2183-138_2183-137insAGGCTGTGGGATGGGGCTCGGAGGCTGT GG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK4_chr3_41241599_41967103	41311960	A A	ATTTATTT others(23): Show ATTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG01891.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0001g0030 a0001c0001t0001g0055	2	48	0.0417	30	c.367 others(51): Show c.3679-62387_3679-62386insATAAAATAAAATAAAATAAAATAA AATAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp1 HG01515.hp1 HG01071.hp1 HG01109.hp1 HG01515.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0038 a0003c0003t0001g0060 a0001c0001t0001g0036 a0001c0001t0001g0038 a0003c0003t0001g0060	3	23	0.1304	30	c.322 others(51): Show c.3227-43515_3227-43514insATATATTTATATATATATATTTTT TTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41856564	C C	CATATATA others(23): Show CATATATATATATGTGTATATATATACACAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	42	0.0238	30	c.165 others(51): Show c.1657-20594_1657-20593insATGTGTATATATATACACATATAT ATATAT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7777574	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20905.hp2 HG01884.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0072 a0001c0001t0012 a0001c0001t0072	a0001c0001t0012g0080 a0001c0001t0072g0026 a0001c0001t0012g0080 a0001c0001t0072g0026	2	71	0.0282	30	c.83- others(47): Show c.83-24068_83-24067insATATATATATATATATATATATATATAT AT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42095089	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp1 HG02559.hp1 HG02723.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0001 a0005c0019t0027 a0005c0019t0001 a0005c0019t0027	a0005c0019t0001g0268 a0005c0019t0027g0362 a0005c0019t0001g0268 a0005c0019t0027g0362	2	64	0.0313	30	c.932 others(47): Show c.932-3814_932-3813insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG06807.hp2 NA19088.hp2 HG02083.hp2 HG06807.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0128 a0001c0001t0001g0219 a0001c0001t0001g0220	3	30	0.1000	30	c.152 others(45): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54186836	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA19064.hp2 HG00738.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0036 a0001c0002 a0002c0036	a0001c0002t0023 a0002c0036t0004 a0001c0002t0023 a0002c0036t0004	a0001c0002t0023g0098 a0002c0036t0004g0010 a0001c0002t0023g0098 a0002c0036t0004g0010	2	128	0.0156	30	c.307 others(51): Show c.3071+43160_3071+43161insATATATATATATATATATATATAT ATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54339640	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0148 a0001c0004t0028g0148	1	32	0.0313	30	c.471 others(49): Show c.4713+1175_4713+1176insATATATATATATATATATATATATAT ATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	17/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455164	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTATCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0058 a0001c0034t0058	a0001c0034t0058g0149 a0001c0034t0058g0149	1	141	0.0071	30	c.493 others(51): Show c.4934-39418_4934-39417insATCTCTCTCTCTCTCTCTCTCTCT CTCTCT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455164	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0012 a0002c0015t0012	a0002c0015t0012g0047 a0002c0015t0012g0047	1	141	0.0071	30	c.493 others(51): Show c.4934-39426_4934-39425insGTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0008 a0001c0020t0008	a0001c0020t0008g0085 a0001c0020t0008g0085	1	54	0.0185	30	c.493 others(51): Show c.4934-39399_4934-39370dupATATATATATATATATATATATAT ATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(23): Show CTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0081 a0001c0002t0008g0081	1	54	0.0185	30	c.493 others(51): Show c.4934-39402_4934-39401insCTCTCTATATATATATATATATAT ATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0015 a0001c0001t0056g0015	1	54	0.0185	30	c.493 others(51): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTATATATATAT ATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176842492	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	201	0.0050	30	c.71- others(47): Show c.71-20114_71-20113insATATATATATATATATATATATATATAT AT	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859074	C C	CCCTTGCT others(23): Show CCCTTGCTAGAGGGCATAGCTGCTAGAATGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02135.hp1 HG02523.hp2 others(3): Show HG02055.hp1 HG02135.hp1 HG02523.hp2 NA18943.hp2 NA18963.hp1 NA18975.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0002 a0005c0008t0002 a0001c0001t0002 a0005c0008t0002	a0001c0001t0002g0075 a0001c0001t0002g0137 a0001c0001t0002g0140 others(3): Show a0001c0001t0002g0075 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0151 a0001c0001t0002g0173 a0005c0008t0002g0128	6	266	0.0226	30	c.71- others(45): Show c.71-3533_71-3504dupAGCTGCTAGAATGTCCTTGCTAGAGGGCAT	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859134	C C	CCCTTGCT others(23): Show CCCTTGCTAGAGGGCATGGCTGCTAGAATGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0256 a0001c0001t0005g0256	1	230	0.0043	30	c.71- others(45): Show c.71-3474_71-3473insGGCTGCTAGAATGTCCTTGCTAGAGGGCAT	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859254	C C	CCCTTGCT others(23): Show CCCTTGCTAGAGGGCATAGCTGCTAGAATGT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03516.hp1 NA18975.hp2 others(1): Show HG02074.hp2 HG03516.hp1 NA18975.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0004 a0001c0001t0011 a0002c0002t0004	a0001c0001t0011g0015 a0002c0002t0004g0126 a0002c0002t0004g0165 others(1): Show a0001c0001t0011g0015 a0002c0002t0004g0126 a0002c0002t0004g0165 a0002c0002t0004g0166	4	222	0.0180	30	c.71- others(45): Show c.71-3346_71-3345insGAATGTCCTTGCTAGAGGGCATAGCTGCTA	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176859254	C C	CCCTTGCT others(23): Show CCCTTGCTAGAGGGCATAGCTGCTAGGATGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02572.hp2 others(3): Show HG01109.hp1 HG01243.hp2 HG02572.hp2 HG02965.hp1 HG03209.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0006 a0002c0002t0001g0112 a0002c0002t0004g0021 others(2): Show a0002c0002t0001g0006 a0002c0002t0001g0112 a0002c0002t0004g0021 a0002c0002t0004g0048 a0002c0002t0004g0066	6	224	0.0268	30	c.71- others(45): Show c.71-3346_71-3345insGGATGTCCTTGCTAGAGGGCATAGCTGCTA	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176863807	C C	CCCTCCTC others(23): Show CCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	51	0.0196	30	c.292 others(45): Show c.292+968_292+997dupTCCCCCTCCTCCTCCTCCCCCTCCTCCTCC	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5C_chr4_95157504_95553973	95197003	T T	TTATATTT others(23): Show TTATATTTATGTAATATATAATATATATTTA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	204	0.0049	30	c.213 others(49): Show c.2136+5698_2136+5727dupTAAATATATATTATATATTACATAAA TATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(23): Show AATATATATATATATATAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19000.hp1 NA18942.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0001 a0002c0002t0026 a0001c0005t0001 a0002c0002t0026	a0001c0005t0001g0099 a0002c0002t0026g0174 a0001c0005t0001g0099 a0002c0002t0026g0174	2	144	0.0139	30	c.595 others(47): Show c.595-6033_595-6032insATATATATATATTTATATATATATATAT AT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95394651	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0200 a0001c0006t0003g0200	1	105	0.0095	30	c.125 others(49): Show c.125-59021_125-59020insCACACACACACACACACACACACACA CACA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35248907	T T	TATATATA others(23): Show TATATATAAACATATATAATATAAATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0030 a0002c0005t0017g0030	1	64	0.0156	30	c.103 others(49): Show c.103+13027_103+13056dupAAACATATATAATATAAATATATAAT ATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35271324	C C	CATACACA others(23): Show CATACACACGTGCACGTGTGTATGTATATGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03239.hp2 HG03688.hp1 others(1): Show HG00438.hp1 HG03239.hp2 HG03688.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0052 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0053	4	59	0.0678	30	c.103 others(49): Show c.103+35450_103+35451insCGTGTGTATGTATATGTATACACACG TGCA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35271354	C C	CATACACA others(23): Show CATACACACGTGCACGTGTGTATGTATATGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01928.hp1 HG02129.hp1 others(2): Show HG01123.hp2 HG01928.hp1 HG02129.hp1 HG02896.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0015 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0015 a0001c0003t0012	a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0002g0044 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0002g0044 a0001c0002t0015g0043 a0001c0003t0012g0058	5	28	0.1786	30	c.103 others(49): Show c.103+35469_103+35498dupTACACACGTGCACGTGTGTATGTATA TGTA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35271683	G G	GTATACAT others(23): Show GTATACATGTATACATGTATACATATATATT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0056 a0001c0003t0011g0056	1	61	0.0164	30	c.103 others(49): Show c.103+35854_103+35883dupATTTATACATGTATACATGTATACAT ATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35271689	A A	ATGTATAC others(23): Show ATGTATACAGGTATACATATATATGTATACC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02965.hp2 others(1): Show HG02630.hp1 HG02717.hp1 HG02965.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0025 a0001c0002t0024 a0001c0001t0004 a0001c0001t0025 a0001c0002t0024	a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0025g0026 others(1): Show a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0025g0026 a0001c0002t0024g0027	4	63	0.0635	30	c.103 others(49): Show c.103+35810_103+35811insGGTATACATATATATGTATACCTGTA TACA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35305575	C C	CTCTTTCT others(23): Show CTCTTTCTTTCTTTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03130.hp2 HG02630.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0018 a0001c0001t0025g0026 a0001c0001t0002g0018 a0001c0001t0025g0026	2	26	0.0769	30	c.103 others(49): Show c.103+69689_103+69690insCTTTCTTTCTTTCTCTTTCTTTCTTT CTTT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35365591	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	12	0.0833	30	c.103 others(51): Show c.103+129730_103+129731insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35587965	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0030 a0002c0005t0017g0030	1	7	0.1429	30	c.467 others(47): Show c.467-7560_467-7559insTATATATATATATATATATATATATATA TA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35728089	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0005 a0001c0003t0023g0005	1	64	0.0156	30	c.168 others(49): Show c.1681+1561_1681+1562insTATATATATATATATATATATATATA TATA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC93B1_chr11_67986100_68009097	67987215	G G	GTAAAATA others(23): Show GTAAAATAAAATAAAATAAAATAAAATAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18969.hp1 NA18948.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0119 a0001c0001t0001g0069 a0001c0001t0001g0119	2	180	0.0111	30	c.43 others(41): Show c.4330_*4331insTTTTATTTTATTTTATTTTATTTTATTTTA	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3884		chr11	TogoVar
UNC93B1_chr11_67986100_68009097	67987276	T T	TAAAATAA others(23): Show TAAAATAAAATAAAATAAAATAAAATAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01071.hp1 others(9): Show HG00735.hp1 HG01069.hp1 HG01071.hp1 HG02027.hp1 HG02027.hp2 HG02698.hp1 HG02970.hp1 HG02976.hp2 HG03704.hp1 NA18950.hp2 NA18956.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0002 a0001c0003t0003 a0001c0006t0005 a0001c0002t0002 a0001c0003t0003 a0001c0006t0005	a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0167 others(5): Show a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0167 a0001c0002t0002g0174 a0001c0002t0002g0185 a0001c0003t0003g0064 a0001c0003t0003g0084 a0001c0006t0005g0034	12	206	0.0583	30	c.42 others(41): Show c.4269_*4270insTTTTTATTTTATTTTATTTTATTTTATTTT	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3823		chr11	TogoVar

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