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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
UBE2W_chr8_73781219_73883862	73845056	C C	CCAGCCCC others(35): Show CCAGCCCCTGCCCGGCCAGCCGCCCCATCCGGGAGGTGGGGGG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	3	0.3333	42	c.16- others(59): Show c.16-14585_16-14584insCCCCCCACCTCCCGGATGGGGCGGCTGG CCGGGCAGGGGCTG		UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	1/5						chr8	TogoVar
UBE2W_chr8_73781219_73883862	73851284	T T	TTAGGAGA others(35): Show TTAGGAGAAACTTCTGCATATGTAAATATTGAAGAGACGGGTA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0148 a0001c0001t0028g0148	1	264	0.0038	42	c.16- others(59): Show c.16-20854_16-20813dupTACCCGTCTCTTCAATATTTACATATGC AGAAGTTTCTCCTA		UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	1/5						chr8	TogoVar
UBE4A_chr11_118354600_118404211	118355530	T T	TACACATA others(35): Show TACACATATGTATATATACACATATACACATATGTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01069.hp1 others(14): Show HG00099.hp1 HG00323.hp2 HG01069.hp1 HG01071.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG02683.hp2 NA18946.hp1 NA18972.hp2 NA18975.hp2 NA18978.hp1 NA19006.hp1 NA19011.hp2 NA19066.hp1 NA19078.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0022 others(1): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023	a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0117 others(14): Show a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0013g0116 a0001c0001t0013g0161 a0001c0001t0022g0119 a0001c0001t0023g0114	17	308	0.0552	42	c.-41 others(53): Show c.-4186_-4185insACACATATGTATATATACACATATACACATATGT ATATATAC		UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding					4069		chr11	TogoVar
UBL4B_chr1_110107443_110118947	110115264	A A	ATGGTCTT others(35): Show ATGGTCTTACTCAGTGCTGTGTTTCTCAATGTGGGGTGACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	394	0.0025	42	c.22 others(53): Show c.2205_*2206insTGGTCTTACTCAGTGCTGTGTTTCTCAATGTGGG GTGACAGG		UBL4B	ENSG00000186150.5	transcript	ENST00000334179.5	protein_coding					1318		chr1	TogoVar
UBR3_chr2_169822454_170089131	169890539	A A	ATATATAT others(35): Show ATATATATATATACACATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0289 a0002c0004t0004g0289	1	307	0.0033	42	c.103 others(59): Show c.1039-626_1039-625insTATATATATATACACATATATATATATA TATATATATATGTG		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38						chr2	TogoVar
UBR3_chr2_169822454_170089131	169890553	A A	ACATATAT others(35): Show ACATATATATATATATATATATATATATGTGTATATATATATG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0319 a0001c0003t0031g0319	1	270	0.0037	42	c.103 others(59): Show c.1039-612_1039-611insCATATATATATATATATATATATATATG TGTATATATATATG		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38						chr2	TogoVar
UBR3_chr2_169822454_170089131	169890555	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATGTGTGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG01069.hp1 others(14): Show HG00609.hp2 HG00639.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG02135.hp2 HG02735.hp2 HG02922.hp2 HG03130.hp1 HG03239.hp2 HG03942.hp1 NA18962.hp2 NA18971.hp2 NA18973.hp2 NA18988.hp2 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0009 a0004c0017 a0001c0002 a0001c0009 a0004c0017	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0009t0002 a0004c0017t0002	a0001c0002t0001g0139 a0001c0002t0002g0120 a0001c0002t0002g0123 others(14): Show a0001c0002t0001g0139 a0001c0002t0002g0120 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0155 a0001c0002t0002g0163 a0001c0002t0002g0173 a0001c0002t0002g0184 a0001c0002t0007g0124 a0001c0002t0007g0157 a0001c0009t0002g0306 a0001c0009t0002g0317 a0004c0017t0002g0122	17	232	0.0733	42	c.103 others(59): Show c.1039-601_1039-600insATATATATATATATATGTGTGTATATAT ATATGTATATATAT		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890557	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATGTGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp1 HG03516.hp2 HG02559.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0272 a0001c0007t0007g0274 a0001c0007t0007g0276 a0001c0007t0007g0272 a0001c0007t0007g0274 a0001c0007t0007g0276	3	310	0.0097	42	c.103 others(59): Show c.1039-601_1039-600insATATATATATATATATATGTGTATATAT ATATATGTATATAT		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169890581	G G	GTGTATAT others(35): Show GTGTATATATATATATGTATATATATGTATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0275 a0001c0007t0007g0275	1	199	0.0050	42	c.103 others(59): Show c.1039-583_1039-582insGTATATATATATATGTATATATATGTAT ATATATATATGTAT		UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	5/38					INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR5_chr8_102247273_102417700	102387719	A A	AAAATGGA others(35): Show AAAATGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03491.hp2 HG01099.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0237 a0001c0001t0001g0245	2	248	0.0081	42	c.62+ others(59): Show c.62+24453_62+24454insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCATTT		UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	1/58						chr8	TogoVar
UBTFL1_chr11_90080950_90092131	90082775	C C	CCTTTCTT others(35): Show CCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	1	218	0.0046	42	c.-31 others(53): Show c.-3175_-3174insCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT		UBTFL1	ENSG00000255009.4	transcript	ENST00000530464.2	protein_coding					3174		chr11	TogoVar
UBXN11_chr1_26277282_26311636	26282344	A A	ACCGGGAC others(35): Show ACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0053 a0002c0001t0001g0053	1	342	0.0029	42	c.147 others(51): Show c.1476_1517dupCCCCAGTCCCGGTCCCGGTCCCGGCCCCAGTCCCGG TCCCGG	p.Gly others(55): Show p.Gly506_Pro507insProSerProGlyProGlyProGlyProSerPr oGlyProGly	UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding	15/15	1597/1660	1517/1563	506/520			chr1	TogoVar
UBXN11_chr1_26277282_26311636	26282358	T T	TGGGGCCG others(35): Show TGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01433.hp2 HG01433.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0085 a0015c0020t0001g0085	1	367	0.0027	42	c.146 others(51): Show c.1462_1503dupGGTCCCGGTCCCGGCCCCAGTCCCGGTCCCGGTCCC GGCCCC	p.Pro others(55): Show p.Pro501_Ser502insGlyProGlyProGlyProSerProGlyProGl yProGlyPro	UBXN11	ENSG00000158062.21	transcript	ENST00000374222.6	protein_coding	15/15	1583/1660	1503/1563	501/520			chr1	TogoVar
UCHL3_chr13_75544791_75611020	75561788	T T	TGTATATA others(35): Show TGTATATATGTATACGTATACATACGTATACATATATACATAC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	324	0.0031	42	c.183 others(57): Show c.183+937_183+938insATATATACATACGTATATATGTATACGTAT ACATACGTATAC		UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
UCHL3_chr13_75544791_75611020	75561796	T T	TGTATACG others(35): Show TGTATACGTATACATACGTATACATATATACATACGTATATAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA20905.hp2 HG03491.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	2	178	0.0112	42	c.183 others(57): Show c.183+937_183+938insATATATACATACGTATATACGTATACGTAT ACATACGTATAC		UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
UCKL1_chr20_63934829_63961416	63951657	A A	AGCACAGG others(35): Show AGCACAGGGGACACAGCCACCTCCCCGCCCAGGGCTCAGCAGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19088.hp1 HG02559.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0044 a0001c0002t0001g0259 a0001c0001t0003g0044 a0001c0002t0001g0259	2	351	0.0057	42	c.113 others(59): Show c.113+4561_113+4602dupCCTGCTGAGCCCTGGGCGGGGAGGTGGC TGTGTCCCCTGTGC		UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14						chr20	TogoVar
UCKL1_chr20_63934829_63961416	63951766	C C	CGCCCAGG others(35): Show CGCCCAGGGCTCAGCAGGGCACAGGGGACACAGCCACCTCCCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG02109.hp1 others(2): Show HG01361.hp1 HG01891.hp1 HG02109.hp1 HG02897.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 others(2): Show a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0002t0001g0265	5	331	0.0151	42	c.113 others(59): Show c.113+4493_113+4494insAGGGAGGTGGCTGTGTCCCCTGTGCCCT GCTGAGCCCTGGGC		UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14						chr20	TogoVar
UCKL1_chr20_63934829_63961416	63960468	G G	GGGGCTGG others(35): Show GGGGCTGGACACAGCCTTCAGGACCAGGCAGGCACCTGCCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	330	0.0030	42	c.-41 others(53): Show c.-4138_-4097dupTGCGGCAGGTGCCTGCCTGGTCCTGAAGGCTGTG TCCAGCCC		UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding					4053		chr20	TogoVar
UCKL1_chr20_63934829_63961416	63960507	C C	CGCAGGGC others(35): Show CGCAGGGCTGGACACAGCCTTCAGGACCAGGCAGGCACCTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	353	0.0028	42	c.-41 others(53): Show c.-4136_-4135insAGCAGGTGCCTGCCTGGTCCTGAAGGCTGTGTCC AGCCCTGC		UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding					4092		chr20	TogoVar
UCKL1_chr20_63934829_63961416	63960613	A A	AGGACCAG others(35): Show AGGACCAGGCAGGCACCTGCCGCAGGGCTGGACACAGCCTTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	296	0.0034	42	c.-42 others(53): Show c.-4283_-4242dupCGAAGGCTGTGTCCAGCCCTGCGGCAGGTGCCTG CCTGGTCC		UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding					4198		chr20	TogoVar
UCKL1_chr20_63934829_63961416	63960721	G G	GGGGCTGG others(35): Show GGGGCTGGACACAGCCTTCGGGACCAGGCAAGCACCTGCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 NA18943.hp1 NA18952.hp1 HG03927.hp2 NA18943.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0116 a0001c0001t0001g0138 a0001c0001t0001g0054 a0001c0001t0001g0116 a0001c0001t0001g0138	3	354	0.0085	42	c.-43 others(53): Show c.-4391_-4350dupTGCTGCAGGTGCTTGCCTGGTCCCGAAGGCTGTG TCCAGCCC		UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding					4306		chr20	TogoVar
UCKL1_chr20_63934829_63961416	63960975	G G	GGGGCTGG others(35): Show GGGGCTGGACACAGCCTTCGGGACCAGGCAAGCACCTGCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	354	0.0028	42	c.-46 others(53): Show c.-4645_-4604dupTGCTGCAGGTGCTTGCCTGGTCCCGAAGGCTGTG TCCAGCCC		UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding					4560		chr20	TogoVar
UCN3_chr10_5359966_5379692	5370225	G G	GTGTGTAT others(35): Show GTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0189 a0002c0002t0002g0189	1	456	0.0022	42	c.-6- others(57): Show c.-6-3490_-6-3489insTGTGTATGTGTGTGTATATGTGTGTGTGTA TGTGTGTGTATA		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1						chr10	TogoVar
UEVLD_chr11_18524609_18593734	18560138	C C	CACACACA others(35): Show CACACACACACACACACACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03927.hp2 HG01496.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0315 a0001c0001t0001g0252 a0001c0001t0001g0315	2	290	0.0069	42	c.613 others(59): Show c.613-1809_613-1808insCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT		UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11						chr11	TogoVar
UGGT1_chr2_128086200_128200677	128112454	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp2 HG02559.hp2 others(12): Show HG01496.hp1 HG01884.hp2 HG02559.hp2 HG02735.hp2 HG02738.hp1 HG03491.hp1 HG03704.hp1 NA18612.hp2 NA18973.hp1 NA18974.hp2 NA18984.hp1 NA19004.hp1 NA19030.hp2 NA19055.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0019	a0001c0001t0001 a0001c0001t0051 a0001c0003t0002 others(5): Show a0001c0001t0001 a0001c0001t0051 a0001c0003t0002 a0001c0003t0007 a0001c0003t0027 a0001c0003t0039 a0001c0004t0001 a0001c0019t0038	a0001c0001t0001g0031 a0001c0001t0051g0044 a0001c0003t0002g0173 others(12): Show a0001c0001t0001g0031 a0001c0001t0051g0044 a0001c0003t0002g0173 a0001c0003t0002g0176 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0212 a0001c0003t0002g0221 a0001c0003t0007g0167 a0001c0003t0007g0210 a0001c0003t0027g0194 a0001c0003t0039g0213 a0001c0004t0001g0017 a0001c0004t0001g0141 a0001c0019t0038g0177	15	98	0.1531	42	c.522 others(57): Show c.522-611_522-610insATATATATATATATATATATATATATATAT ATATATATATAT		UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	5/40					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A10_chr2_233631448_233778300	233757535	A A	AATATATA others(35): Show AATATATATACATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	102	0.0098	42	c.856 others(59): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATATATATATA		UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A1_chr2_233755270_233778300	233757535	A A	AATATATA others(35): Show AATATATATACATATACATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	175	0.0057	42	c.-27 others(53): Show c.-2753_-2752insATATATATACATATACATATATATATATATATAT ATATATAT		UGT1A1	ENSG00000241635.8	transcript	ENST00000305208.10	protein_coding					2734		chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233757535	A A	AATATATA others(35): Show AATATATATACATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	133	0.0075	42	c.868 others(59): Show c.868-9490_868-9489insCATATACATATATATATATATATATATA TATATATATATATA		UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233757535	A A	AATATATA others(35): Show AATATATATACATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	121	0.0083	42	c.868 others(59): Show c.868-9490_868-9489insCATATACATATATATATATATATATATA TATATATATATATA		UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233757535	A A	AATATATA others(35): Show AATATATATACATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	120	0.0083	42	c.868 others(59): Show c.868-9490_868-9489insCATATACATATATATATATATATATATA TATATATATATATA		UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233757535	A A	AATATATA others(35): Show AATATATATACATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	120	0.0083	42	c.862 others(59): Show c.862-9490_862-9489insCATATACATATATATATATATATATATA TATATATATATATA		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(35): Show AATATATATACATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	111	0.0090	42	c.856 others(59): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATATATATATA		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(35): Show AATATATATACATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	98	0.0102	42	c.856 others(59): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATATATATATA		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(35): Show AATATATATACATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	112	0.0089	42	c.856 others(59): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATATATATATA		UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT3A2_chr5_36030021_36071882	36067822	G G	GGAGAGAG others(35): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG03516.hp1 HG01175.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0004g0005 a0001c0001t0001g0004 a0001c0001t0004g0005	2	243	0.0082	42	c.-10 others(53): Show c.-1075_-1034dupTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC		UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding					941		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	315	0.0032	42	c.-10 others(53): Show c.-1077_-1076insTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT		UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding					984		chr5	TogoVar
ULK1_chr12_131889622_131928150	131917190	G G	GTTCGGCT others(35): Show GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0277 a0001c0006t0002g0277	1	285	0.0035	42	c.218 others(59): Show c.2182+129_2182+130insTCGGCTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGAT		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917245	C C	CGGCTCGG others(35): Show CGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0082 a0001c0002t0004g0082	1	277	0.0036	42	c.218 others(59): Show c.2183-148_2183-147insTGGGGGTCGGAGGCTGTGGGATGGGGCT CGGAGGCTGTGGGA		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK4_chr3_41241599_41967103	41856524	T T	TATATATA others(35): Show TATATATATATGTATGTATATATATATGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	70	0.0143	42	c.165 others(63): Show c.1657-20554_1657-20553insGTGTATATATATACACATATATAT ATACATACATATATATAT		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36						chr3	TogoVar
UMAD1_chr7_7635752_7884223	7777574	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0234 a0001c0001t0027g0234	1	70	0.0143	42	c.83- others(59): Show c.83-24068_83-24067insATATATATATATATATATATATATATAT ATATATATATATAT		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC13C_chr15_53973441_54633605	53979353	G G	GTGTTTTT others(35): Show GTGTTTTTCCAGCTCAGCATCCAGTCTGAAGCAAAAGAAGCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp2 HG01884.hp2 others(17): Show HG00738.hp1 HG01192.hp2 HG01884.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02300.hp2 HG02630.hp2 HG04228.hp2 NA18612.hp2 NA18952.hp1 NA18953.hp2 NA18991.hp2 NA18993.hp1 NA19064.hp1 NA19081.hp2	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0015	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0020 a0001c0032 a0002c0015 a0002c0016 a0002c0017 a0002c0018 a0002c0019 a0013c0022 a0015c0031	a0001c0001t0001 a0001c0001t0012 a0001c0001t0019 others(12): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0019 a0001c0002t0020 a0001c0003t0053 a0001c0006t0027 a0001c0020t0001 a0001c0032t0004 a0002c0015t0012 a0002c0016t0004 a0002c0017t0007 a0002c0018t0004 a0002c0019t0054 a0013c0022t0010 a0015c0031t0001	a0001c0001t0001g0044 a0001c0001t0012g0057 a0001c0001t0019g0042 others(17): Show a0001c0001t0001g0044 a0001c0001t0012g0057 a0001c0001t0019g0042 a0001c0002t0020g0041 a0001c0003t0053g0058 a0001c0006t0027g0050 a0001c0006t0027g0052 a0001c0020t0001g0043 a0001c0032t0004g0056 a0002c0015t0012g0047 a0002c0015t0012g0054 a0002c0016t0004g0053 a0002c0016t0004g0055 a0002c0017t0007g0049 a0002c0017t0007g0060 a0002c0018t0004g0046 a0002c0018t0004g0048 a0002c0019t0054g0059 a0013c0022t0010g0061 a0015c0031t0001g0051	20	156	0.1282	42	c.-25 others(59): Show c.-257+428_-257+469dupGTTTTTCCAGCTCAGCATCCAGTCTGAA GCAAAAGAAGCTTT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	1/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54186836	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0068 a0001c0005t0003g0068	1	127	0.0079	42	c.307 others(63): Show c.3071+43160_3071+43161insATATATATATATATATATATATAT ATATATATATATATATAT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18989.hp1 NA18947.hp2 NA18989.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0027 a0001c0001 a0005c0027	a0001c0001t0006 a0005c0027t0008 a0001c0001t0006 a0005c0027t0008	a0001c0001t0006g0137 a0005c0027t0008g0073 a0001c0001t0006g0137 a0005c0027t0008g0073	2	55	0.0364	42	c.493 others(63): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATATATATAT		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(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0114 a0001c0003t0009g0114	1	54	0.0185	42	c.493 others(63): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTATATATATAT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(35): Show AATATATATATATATATAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02602.hp1 HG01099.hp1 HG02602.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0007c0033 a0001c0003 a0007c0033	a0001c0003t0002 a0007c0033t0002 a0001c0003t0002 a0007c0033t0002	a0001c0003t0002g0100 a0007c0033t0002g0048 a0001c0003t0002g0100 a0007c0033t0002g0048	2	144	0.0139	42	c.595 others(59): Show c.595-6033_595-6032insATATATATATATATATATATATATTTAT ATATATATATATAT		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15						chr4	TogoVar
UNC5C_chr4_95157504_95553973	95256714	A A	ATAAATAT others(35): Show ATAAATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03017.hp2 HG03654.hp2 others(2): Show HG01175.hp2 HG03017.hp2 HG03654.hp2 HG03704.hp2 NA19074.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0003 a0001c0005 a0002c0030 others(1): Show a0001c0003 a0001c0005 a0002c0030 a0010c0039	a0001c0003t0001 a0001c0005t0029 a0001c0005t0032 others(2): Show a0001c0003t0001 a0001c0005t0029 a0001c0005t0032 a0002c0030t0001 a0010c0039t0001	a0001c0003t0001g0121 a0001c0005t0029g0154 a0001c0005t0032g0095 others(2): Show a0001c0003t0001g0121 a0001c0005t0029g0154 a0001c0005t0032g0095 a0002c0030t0001g0013 a0010c0039t0001g0117	5	192	0.0260	42	c.595 others(59): Show c.595-6048_595-6047insCATATATATATATATATATATATATATA TATATATATATTTA		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15						chr4	TogoVar
UNC5D_chr8_35230475_35801540	35305575	C C	CTCTTTCT others(35): Show CTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0030 a0002c0005t0017g0030	1	25	0.0400	42	c.103 others(61): Show c.103+69689_103+69690insCTTTCTTTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT		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(35): Show CTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	25	0.0400	42	c.103 others(61): Show c.103+69689_103+69690insCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTT		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
UPF1_chr19_18826959_18873230	18829619	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATACATATATATATATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	160	0.0063	42	c.-25 others(53): Show c.-2591_-2590insTATATATATATATATATATATATATACATATATA TATATGTA		UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding					2339		chr19	TogoVar
UPK1A_chr19_35661517_35683481	35680685	A A	AATAAATA others(35): Show AATAAATAAATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 NA19007.hp1 NA19066.hp1 HG02129.hp2 NA19007.hp1 NA19066.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0004 a0003c0005t0002g0004	3	394	0.0076	42	c.26 others(53): Show c.2666_*2667insATAAATAAATATATATATATATATATATATATAT ATATATAT		UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding					2205		chr19	TogoVar

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