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
UGT1A7_chr2_233676901_233778300	233757535	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0135 a0003c0003t0002g0135	1	111	0.0090	36	c.856 others(53): Show c.856-9473_856-9472insATATATATATATATATATATATATATAT ATATATAT	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(29): Show AATATATATACATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp2 HG03579.hp2 others(3): Show HG03139.hp1 HG03486.hp2 HG03579.hp2 HG04204.hp2 NA18975.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0159 a0001c0001t0001g0183 a0001c0001t0001g0207 others(3): Show a0001c0001t0001g0159 a0001c0001t0001g0183 a0001c0001t0001g0207 a0001c0001t0001g0230 a0001c0001t0002g0282 a0001c0001t0008g0257	6	103	0.0583	36	c.856 others(53): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATATA	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(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0091 a0001c0004t0002g0091	1	98	0.0102	36	c.856 others(53): Show c.856-9473_856-9472insATATATATATATATATATATATATATAT ATATATAT	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(29): Show AATATATATACATATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp1 HG03579.hp1 others(3): Show HG03139.hp1 HG03486.hp1 HG03579.hp1 HG04204.hp1 NA18975.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0209 a0001c0001t0001g0266 a0001c0001t0001g0282 others(3): Show a0001c0001t0001g0209 a0001c0001t0001g0266 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0141 a0001c0001t0002g0262	6	117	0.0513	36	c.856 others(53): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATATA	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(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	112	0.0089	36	c.856 others(53): Show c.856-9473_856-9472insATATATATATATATATATATATATATAT ATATATAT	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(29): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02970.hp1 HG01884.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	2	243	0.0082	36	c.-10 others(47): Show c.-1069_-1034dupTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		941		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(29): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01099.hp2 HG02071.hp2 others(2): Show HG00140.hp1 HG01099.hp2 HG02071.hp2 NA18943.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0002g0103 a0001c0001t0003g0010 a0001c0001t0002g0003 a0001c0001t0002g0103 a0001c0001t0003g0010	5	319	0.0157	36	c.-10 others(47): Show c.-1077_-1076insTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		984		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36068870	A A	AAGAGGTC others(29): Show AAGAGGTCAAGGAGGAAGCGACCAGCGACGAGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	408	0.0025	36	c.-20 others(47): Show c.-2082_-2081insCCCTCCTCGTCGCTGGTCGCTTCCTCCTTGACCT CT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		1989		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36068938	G G	GGGAGGGA others(29): Show GGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02965.hp2 HG02622.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	2	114	0.0175	36	c.-21 others(47): Show c.-2150_-2149insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCT CC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		2057		chr5	TogoVar
UIMC1_chr5_176900006_177011779	176953495	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0181 a0003c0004t0001g0181	1	130	0.0077	36	c.134 others(55): Show c.1340-1954_1340-1919dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	8/14			chr5	TogoVar
ULK2_chr17_19765830_19872936	19814433	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp1 HG03471.hp2 others(1): Show HG02451.hp2 HG02976.hp1 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0043 a0001c0003t0008g0044 a0001c0003t0008g0045 others(1): Show a0001c0003t0008g0043 a0001c0003t0008g0044 a0001c0003t0008g0045 a0001c0003t0008g0046	4	285	0.0140	36	c.109 others(55): Show c.1096+2315_1096+2316insGTGTATATATATATATATATATATAT ATATATATAT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK4_chr3_41241599_41967103	41311877	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0002 a0009c0008t0002	a0009c0008t0002g0021 a0009c0008t0002g0021	1	46	0.0217	36	c.367 others(57): Show c.3679-62304_3679-62303insATATATATATATATATATATATAT ATATATATATAT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0001 a0013c0024t0001	a0013c0024t0001g0027 a0013c0024t0001g0027	1	21	0.0476	36	c.322 others(57): Show c.3227-43515_3227-43514insATATATATATATTTATATATATAT ATTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41669787	A A	ATATATTT others(29): Show ATATATTTTTGTTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG02818.hp2 others(1): Show HG01243.hp2 HG02257.hp1 HG02818.hp2 NA19043.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0002 a0004c0002t0001 a0004c0002t0002	a0004c0002t0001g0006 a0004c0002t0002g0007 a0004c0002t0002g0008 others(1): Show a0004c0002t0001g0006 a0004c0002t0002g0007 a0004c0002t0002g0008 a0004c0002t0002g0009	4	68	0.0588	36	c.297 others(55): Show c.2979-6089_2979-6088insATATATATATATATATATATATATAA CAAAAATATA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	29/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41901479	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0061 a0003c0003t0001g0061	1	16	0.0625	36	c.118 others(53): Show c.1183-651_1183-650insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	12/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7777574	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	70	0.0143	36	c.83- others(53): Show c.83-24068_83-24067insATATATATATATATATATATATATATAT ATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42131344	T T	TGGCCATG others(29): Show TGGCCATGAAGCTGGGGAACAGGAGGAGGGAGGTCTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0027 a0005c0019t0027	a0005c0019t0027g0362 a0005c0019t0027g0362	1	398	0.0025	36	c.377 others(55): Show c.3775+1620_3775+1655dupGGCCATGAAGCTGGGGAACAGGAGGA GGGAGGTCTC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMPS_chr3_124725452_124754273	124751346	G G	GGAGAGGG others(29): Show GGAGAGGGAGAGGGACAGGGAGAGGGACAGGGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(115): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02132.hp1 HG02148.hp1 HG02165.hp2 HG02273.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp1 HG03710.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18940.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0010 others(1): Show a0001c0001 a0001c0009 a0001c0010 a0001c0013	a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 others(20): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0018 a0001c0001t0023 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0052 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0086 a0001c0001t0098 a0001c0009t0078 a0001c0010t0036 a0001c0010t0037 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0014g0015 a0001c0001t0014g0114 a0001c0001t0014g0118 a0001c0001t0018g0001 a0001c0001t0023g0022 a0001c0001t0023g0035 a0001c0001t0035g0033 a0001c0001t0035g0082 a0001c0001t0041g0022 a0001c0001t0042g0029 a0001c0001t0052g0033 a0001c0001t0071g0125 a0001c0001t0072g0001 a0001c0001t0073g0022 a0001c0001t0074g0122 a0001c0001t0075g0040 a0001c0001t0076g0029 a0001c0001t0077g0015 a0001c0001t0079g0015 a0001c0001t0080g0111 a0001c0001t0086g0001 a0001c0001t0098g0001 a0001c0009t0078g0112 a0001c0010t0036g0085 a0001c0010t0036g0086 a0001c0010t0037g0084 a0001c0013t0001g0009	118	280	0.4214	36	c.72 others(47): Show c.7262_*7263insGAGAGGGAGAGGGACAGGGAGAGGGACAGGGAGA GT	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		2074		chr3	TogoVar
UNC13C_chr15_53973441_54633605	54339640	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	32	0.0313	36	c.471 others(55): Show c.4713+1175_4713+1176insATATATATATATATATATATATATAT ATATATATAT	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(29): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTATCTCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0142 a0001c0001t0030g0142	1	141	0.0071	36	c.493 others(57): Show c.4934-39416_4934-39415insATCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	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(29): Show CTCTCTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0116 a0001c0002t0024g0116	1	54	0.0185	36	c.493 others(57): Show c.4934-39402_4934-39401insCTCTCTCTATATATATATATATAT ATATATATATAT	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(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19090.hp2 HG02132.hp1 NA19090.hp2	a0001 a0001	a0001c0005 a0001c0012 a0001c0005 a0001c0012	a0001c0005t0003 a0001c0012t0017 a0001c0005t0003 a0001c0012t0017	a0001c0005t0003g0097 a0001c0012t0017g0109 a0001c0005t0003g0097 a0001c0012t0017g0109	2	55	0.0364	36	c.493 others(57): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATAT	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(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0050 a0001c0003t0050	a0001c0003t0050g0012 a0001c0003t0050g0012	1	54	0.0185	36	c.493 others(57): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATAT	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(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0017 a0001c0012t0017	a0001c0012t0017g0117 a0001c0012t0017g0117	1	54	0.0185	36	c.493 others(57): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC45B_chr17_35142817_35194343	35175075	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	422	0.0024	36	c.195 others(53): Show c.1958+719_1958+720insAAGAAAGAAAGAAAGAAAGAAACAAAGA AAGAAAGA	UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC5A_chr5_176805559_176885898	176805937	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	266	0.0038	36	c.-48 others(47): Show c.-4814_-4813insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4621		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176805981	A A	AGAAAGAA others(29): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	128	0.0078	36	c.-47 others(47): Show c.-4770_-4769insGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGA AG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4577		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176858774	G G	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	74	0.0135	36	c.71- others(51): Show c.71-3849_71-3848insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAAG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871365	C C	CAACACCA others(29): Show CAACACCACAGCTTCCCATCTGCCCACACTCGCCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02647.hp1 HG01884.hp1 HG02145.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0083 a0001c0001t0007g0242 a0001c0001t0007g0247 a0001c0001t0007g0083 a0001c0001t0007g0242 a0001c0001t0007g0247	3	244	0.0123	36	c.886 others(51): Show c.886+832_886+833insACACCACAGCTTCCCATCTGCCCACACTCG CCCCAA	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5C_chr4_95157504_95553973	95256714	A A	ATAAATAT others(29): Show ATAAATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	188	0.0053	36	c.595 others(53): Show c.595-6048_595-6047insCATATATATATATATATATATATATATA TATATTTA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35587965	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03927.hp1 HG03490.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0042 a0001c0001t0001g0006 a0001c0001t0001g0042	2	8	0.2500	36	c.467 others(53): Show c.467-7560_467-7559insTATATATATATATATATATATATATATA TATATATA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC80_chr2_209766832_210004296	209903385	T T	TATATATT others(29): Show TATATATTTATATATATATTATATATATACACATTAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0017 a0001c0022t0017	a0001c0022t0017g0180 a0001c0022t0017g0180	1	186	0.0054	36	c.458 others(55): Show c.4582-1345_4582-1344insCATATATTTATATATATATTATATAT ATACACATTA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC93A_chr6_167286315_167321014	167295434	G G	GCCTCCCT others(29): Show GCCTCCCTCGTGATCCTCGGCCTCCCTCGTGCTCCTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	423	0.0024	36	c.270 others(51): Show c.270-598_270-597insCCTCCCTCGTGATCCTCGGCCTCCCTCGTG CTCCTC	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7			chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295439	C C	CCCTCGTG others(29): Show CCCTCGTGATCCTCGCCTCCCTCGTGCTCCTCGCCTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG03041.hp2 HG02886.hp2 HG02895.hp1 HG03041.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0022 a0001c0001 a0013c0022	a0001c0001t0002 a0001c0001t0005 a0013c0022t0002 a0001c0001t0002 a0001c0001t0005 a0013c0022t0002	a0001c0001t0002g0097 a0001c0001t0005g0090 a0013c0022t0002g0091 a0001c0001t0002g0097 a0001c0001t0005g0090 a0013c0022t0002g0091	3	437	0.0069	36	c.270 others(51): Show c.270-586_270-585insATCCTCGCCTCCCTCGTGCTCCTCGCCTGC CTCGTG	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295645	C C	CTCCTCGC others(29): Show CTCCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0003 a0009c0012t0003	a0009c0012t0003g0226 a0009c0012t0003g0226	1	332	0.0030	36	c.270 others(51): Show c.270-370_270-369insCTCCTCGCCTCCCTCGTGATCCTCGCCTCC CTCGTG	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295645	C C	CTCCTCGC others(29): Show CTCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTCGTGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0020 a0020	a0020c0039 a0020c0039	a0020c0039t0003 a0020c0039t0003	a0020c0039t0003g0217 a0020c0039t0003g0217	1	332	0.0030	36	c.270 others(51): Show c.270-378_270-377insGCCTCGTGCTCCTCGCCTCCCTCGTGATCC TCGCCT	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295681	C C	CTCCTCGC others(29): Show CTCCTCGCCTCCCTCGTGATCCTCGCCTCCCTCGTGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0005 a0005c0010t0005	a0005c0010t0005g0088 a0005c0010t0005g0088	1	439	0.0023	36	c.270 others(51): Show c.270-342_270-341insCCCTCGTGATCCTCGCCTCCCTCGTGATCC TCGCCT	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295745	C C	CCCTCGTG others(29): Show CCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG03130.hp1 others(1): Show HG02280.hp1 HG02572.hp2 HG03130.hp1 HG03139.hp1	a0003 a0009 a0003 a0009	a0003c0009 a0003c0020 a0009c0012 a0003c0009 a0003c0020 a0009c0012	a0003c0009t0007 a0003c0020t0007 a0009c0012t0003 a0003c0009t0007 a0003c0020t0007 a0009c0012t0003	a0003c0009t0007g0089 a0003c0020t0007g0025 a0009c0012t0003g0324 a0003c0009t0007g0089 a0003c0020t0007g0025 a0009c0012t0003g0324	4	301	0.0133	36	c.270 others(51): Show c.270-274_270-273insGCCTCCCTCGTGCTCCTCGCCTGCCTCGTG CTCCTC	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNKL_chr16_1358205_1419704	1401476	A A	ACTGAAAG others(29): Show ACTGAAAGGCACAGGGAACCAAGTGGCCCGAGCTGTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG03209.hp2 others(1): Show HG02451.hp2 HG02486.hp1 HG03209.hp2 NA20129.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0027 a0001c0007t0028 a0001c0007t0027 a0001c0007t0028	a0001c0007t0027g0010 a0001c0007t0027g0012 a0001c0007t0028g0009 others(1): Show a0001c0007t0027g0010 a0001c0007t0027g0012 a0001c0007t0028g0009 a0001c0007t0028g0011	4	320	0.0125	36	c.598 others(49): Show c.598+56_598+91dupAACAGCTCGGGCCACTTGGTTCCCTGTGCCTT TCAG	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	4/14			chr16	TogoVar
UPF3A_chr13_114276601_114310817	114281899	T T	TGGAGGGA others(29): Show TGGAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00738.hp2 others(13): Show HG00438.hp1 HG00438.hp2 HG00738.hp2 HG01257.hp1 HG01258.hp2 HG02155.hp2 HG02809.hp1 HG03453.hp1 HG03453.hp2 HG03669.hp1 NA18955.hp2 NA18993.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(12): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0002c0002t0001g0016 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064	16	207	0.0773	36	c.207 others(49): Show c.207+82_207+83insAGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGA GGGG	UPF3A	ENSG00000169062.15	transcript	ENST00000375299.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
UPK1A_chr19_35661517_35683481	35680685	A A	AATAAATA others(29): Show AATAAATAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA18939.hp2 NA18944.hp2 others(6): Show HG02027.hp2 NA18939.hp2 NA18944.hp2 NA18952.hp1 NA18997.hp2 NA19080.hp1 NA19082.hp1 NA19089.hp1 NA19090.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0004 a0003c0005t0002g0027 a0003c0005t0002g0048 others(2): Show a0003c0005t0002g0004 a0003c0005t0002g0027 a0003c0005t0002g0048 a0003c0005t0002g0155 a0003c0005t0002g0157	9	400	0.0225	36	c.26 others(47): Show c.2666_*2667insATAAATAAATATATATATATATATATATATATAT AT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		2205		chr19	TogoVar
UPK1A_chr19_35661517_35683481	35682268	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	413	0.0024	36	c.42 others(47): Show c.4249_*4250insATATATATATATATATATATATATATATATATAT AA	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3788		chr19	TogoVar
UPK3BL2_chr7_102532919_102548696	102547829	A A	AGAGAAAG others(29): Show AGAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG03239.hp2 HG00438.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	174	0.0115	36	c.-41 others(47): Show c.-4194_-4193insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTC TC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4134		chr7	TogoVar
UPRT_chrX_75269085_75309885	75272336	A A	ATATATAT others(29): Show ATATATATATGTATATATATATACACATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02886.hp2 HG03942.hp1 others(4): Show HG01243.hp1 HG02886.hp2 HG03942.hp1 HG04115.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0031 others(4): Show a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0004g0040	7	250	0.0280	36	c.-19 others(47): Show c.-1919_-1918insTATATATATGTATATATATATACACATATATATG TG	UPRT	ENSG00000094841.14	transcript	ENST00000373383.9	protein_coding		1748		chrX	TogoVar
URAD_chr13_27972717_27993693	27990944	G G	GGTATAGG others(29): Show GGTATAGGTATAGGTGTAGGTATATGTATATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03453.hp1 NA18906.hp1 others(1): Show HG01243.hp2 HG03453.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0052 a0001c0001t0002g0129 a0001c0001t0002g0021 a0001c0001t0002g0052 a0001c0001t0002g0129	4	424	0.0094	36	c.-23 others(47): Show c.-2308_-2307insATATACATATACATATACCTACACCTATACCTAT AC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2252		chr13	TogoVar
URAD_chr13_27972717_27993693	27991121	A A	ATAGGTAT others(29): Show ATAGGTATAGGTATAGGTATATGTATATGTATAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 NA18906.hp1 HG02109.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	2	425	0.0047	36	c.-24 others(47): Show c.-2485_-2484insCACCTATACATATACATATACCTATACCTATACC TA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2429		chr13	TogoVar
URAD_chr13_27972717_27993693	27991154	T T	TGTATAGG others(29): Show TGTATAGGTGTAGGTATAGGTATAGGTATAGGTATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0125 a0001c0005t0002g0125	1	416	0.0024	36	c.-25 others(47): Show c.-2518_-2517insCTATACCTATACCTATACCTATACCTACACCTAT AC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2462		chr13	TogoVar
URAD_chr13_27972717_27993693	27991334	G G	GTTATAGG others(29): Show GTTATAGGTATAGGTATAGGTATATGTATAGGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01358.hp2 HG03453.hp1 HG01243.hp2 HG01358.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0129 a0001c0001t0002g0021 a0001c0001t0002g0129	3	420	0.0071	36	c.-26 others(47): Show c.-2698_-2697insATATACCTATACATATACCTATACCTATACCTAT AA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2642		chr13	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18981.hp1 HG02922.hp1 NA18981.hp1	a0001 a0004 a0001 a0004	a0001c0054 a0004c0007 a0001c0054 a0004c0007	a0001c0054t0018 a0004c0007t0005 a0001c0054t0018 a0004c0007t0005	a0001c0054t0018g0083 a0004c0007t0005g0204 a0001c0054t0018g0083 a0004c0007t0005g0204	2	19	0.1053	36	c.164 others(51): Show c.1640-72_1640-37dupCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
USF2_chr19_35263962_35284821	35280541	A A	AGGGGGGG others(29): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0108 a0002c0003t0003g0108	1	424	0.0024	36	c.12 others(47): Show c.1285_*1286insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GG	USF2	ENSG00000105698.16	transcript	ENST00000222305.8	protein_coding		721		chr19	TogoVar

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