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
NTM_chr11_131365615_132341822	131599273	A A	AGCAGATG others(20): Show AGCAGATGCCCTGTCTACCCAGTCTCCG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01884.hp2 HG02280.hp1 others(7): Show HG01496.hp2 HG01884.hp2 HG02280.hp1 HG02451.hp1 HG02922.hp2 HG03098.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0002g0022 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0002g0022 a0001c0001t0002g0053 a0001c0001t0003g0030 a0001c0001t0003g0051 a0001c0001t0004g0009 a0001c0001t0004g0029 a0001c0001t0004g0043 a0001c0001t0013g0048	10	60	0.1667	27	c.82+ others(46): Show c.82+228472_82+228498dupTGCCCTGTCTACCCAGTCTCCGGCAG A	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131599341	C C	CTACCCAG others(20): Show CTACCCAGTCTCCGGCAGATGCCCTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp1 HG02055.hp1 others(6): Show HG00642.hp1 HG01243.hp1 HG02055.hp1 HG02109.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp2 HG03516.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0002t0003 a0002c0003t0011	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0023 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0003g0008 a0001c0001t0004g0005 a0001c0001t0008g0070 a0001c0001t0010g0019 a0001c0002t0003g0016 a0002c0003t0011g0052	9	86	0.1047	27	c.82+ others(46): Show c.82+228479_82+228480insGTACCCAGTCTCCGGCAGATGCCCTG T	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131730721	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0068 a0001c0002t0012g0068	1	66	0.0152	27	c.83- others(46): Show c.83-180841_83-180840insAAAAAAAAAAAAAAAAAAAAAAAAGA A	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131873537	T T	TGTGTATA others(20): Show TGTGTATATATATACGTATATATATACC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG03516.hp2 others(1): Show HG02258.hp1 HG02615.hp2 HG03516.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0011 a0001c0001t0001 a0001c0001t0002 a0002c0003t0011	a0001c0001t0001g0057 a0001c0001t0001g0086 a0001c0001t0002g0047 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0086 a0001c0001t0002g0047 a0002c0003t0011g0052	4	80	0.0500	27	c.83- others(44): Show c.83-38025_83-38024insGTATATATATACGTATATATATACCGT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9038265	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0052 a0001c0004t0017g0052	1	107	0.0093	27	c.101 others(48): Show c.1018+14874_1018+14875insACACACACACACACACACACACAC ACA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6			chr17	TogoVar
NTN1_chr17_9016510_9249000	9038265	C C	CTCACACA others(20): Show CTCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00738.hp2 others(12): Show HG00099.hp2 HG00323.hp2 HG00738.hp2 HG01358.hp1 HG01516.hp2 HG01943.hp1 HG02055.hp2 HG02145.hp2 HG02602.hp2 HG02738.hp2 HG03490.hp2 HG03654.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0041 a0001c0001t0057 a0001c0001t0058 a0001c0003t0001 a0001c0003t0005 a0001c0004t0002	a0001c0001t0001g0067 a0001c0001t0005g0044 a0001c0001t0008g0118 others(12): Show a0001c0001t0001g0067 a0001c0001t0005g0044 a0001c0001t0008g0118 a0001c0001t0008g0120 a0001c0001t0008g0124 a0001c0001t0012g0251 a0001c0001t0016g0117 a0001c0001t0041g0039 a0001c0001t0057g0119 a0001c0001t0058g0125 a0001c0003t0001g0069 a0001c0003t0005g0068 a0001c0004t0002g0032 a0001c0004t0002g0066 a0001c0004t0002g0071	15	121	0.1240	27	c.101 others(48): Show c.1018+14874_1018+14875insTCACACACACACACACACACACAC ACA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6			chr17	TogoVar
NTN4_chr12_95652807_95795764	95700080	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	34	0.0294	27	c.118 others(48): Show c.1180+10334_1180+10360dupAAAAAAAAAAAAAAAAAAAAAAAA AAA	NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding	5/9			chr12	TogoVar
NTRK2_chr9_84664729_85032054	84797604	A A	ATATATTA others(20): Show ATATATTATATATACTATAATTATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG01993.hp2 others(16): Show HG00597.hp2 HG00621.hp1 HG01993.hp2 HG02015.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02698.hp2 HG02723.hp2 HG02886.hp1 HG03139.hp1 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 NA18955.hp1 NA18999.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030 a0001c0001t0049 a0001c0002t0004 a0001c0002t0005 a0001c0002t0014 a0001c0005t0018	a0001c0001t0001g0022 a0001c0001t0001g0138 a0001c0001t0001g0139 others(16): Show a0001c0001t0001g0022 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0002g0023 a0001c0001t0002g0143 a0001c0001t0003g0071 a0001c0001t0004g0142 a0001c0001t0015g0040 a0001c0001t0021g0101 a0001c0001t0022g0085 a0001c0001t0024g0124 a0001c0001t0026g0153 a0001c0001t0030g0038 a0001c0001t0049g0097 a0001c0002t0004g0141 a0001c0002t0005g0144 a0001c0002t0014g0077 a0001c0005t0018g0012	19	168	0.1131	27	c.139 others(48): Show c.1396+45524_1396+45525insTATATATACTATAATTATATATTA TAT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	84888982	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19240.hp1 NA20129.hp2 HG02451.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0045 a0001c0001t0058 a0001c0005t0018 a0001c0001t0045 a0001c0001t0058 a0001c0005t0018	a0001c0001t0045g0106 a0001c0001t0058g0002 a0001c0005t0018g0012 a0001c0001t0045g0106 a0001c0001t0058g0002 a0001c0005t0018g0012	3	34	0.0882	27	c.163 others(48): Show c.1633+21577_1633+21578insTTTTTTTTTTTTTTTTTTTTTTTT TTT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTSR1_chr20_62703836_62767771	62755732	C C	CCCTCCCT others(20): Show CCCTCCCTCCATCCCTCCCTTCATCCAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0026 a0001c0001t0009g0026	1	314	0.0032	27	c.916 others(42): Show c.916+855_916+856insATCCCTCCCTTCATCCATCCTCCCTCC	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NUDT18_chr8_22101878_22114419	22104831	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0009	1	181	0.0055	27	c.24 others(38): Show c.2468_*2469insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		2046		chr8	TogoVar
NUDT18_chr8_22101878_22114419	22106419	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 NA18952.hp2 HG01109.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	51	0.0392	27	c.88 others(36): Show c.880_*881insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		458		chr8	TogoVar
NUDT2_chr9_34324569_34348699	34338327	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA21309.hp2 HG03239.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	2	30	0.0667	27	c.-15 others(44): Show c.-151-382_-151-356dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUDT3_chr6_34274679_34397669	34351198	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02135.hp1 HG03688.hp2 others(2): Show HG02027.hp1 HG02135.hp1 HG03688.hp2 HG03834.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0054 a0001c0001t0002 a0001c0001t0003 a0001c0001t0054	a0001c0001t0002g0183 a0001c0001t0002g0195 a0001c0001t0003g0221 others(2): Show a0001c0001t0002g0183 a0001c0001t0002g0195 a0001c0001t0003g0221 a0001c0001t0003g0227 a0001c0001t0054g0224	5	67	0.0746	27	c.100 others(44): Show c.100-9253_100-9227dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT4_chr12_93372925_93413146	93406275	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0229 a0001c0001t0229	a0001c0001t0229g0149 a0001c0001t0229g0149	1	64	0.0156	27	c.69 others(38): Show c.6900_*6926dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	5/5	6927	INFO_REALIGN_3_PRIME	chr12	TogoVar
NUDT6_chr4_122887577_122927597	122899044	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01261.hp1 HG03041.hp2 others(1): Show HG01070.hp1 HG01261.hp1 HG03041.hp2 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0001 a0002c0001t0001 a0001c0004t0001 a0002c0001t0001	a0001c0004t0001g0224 a0002c0001t0001g0043 a0002c0001t0001g0155 a0001c0004t0001g0224 a0002c0001t0001g0043 a0002c0001t0001g0155	4	54	0.0741	27	c.499 others(44): Show c.499-1367_499-1366insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NUDT6	ENSG00000170917.14	transcript	ENST00000304430.10	protein_coding	3/4			chr4	TogoVar
NUMA1_chr11_71997864_72085542	72049560	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03139.hp1 HG01243.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0140 a0001c0003t0001g0141	2	73	0.0274	27	c.-32 others(46): Show c.-32-13586_-32-13585insATATATATATATATATATATATATAT A	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73353072	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0248 a0001c0002t0003g0248	1	33	0.0303	27	c.126 others(44): Show c.126+2527_126+2553dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229472727	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0238	1	274	0.0036	27	c.185 others(46): Show c.1852-1924_1852-1923insTATATATATATATATATATATATATA T	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP153_chr6_17610037_17711925	17690270	T T	TGAACCCG others(20): Show TGAACCCGGGTGGCGTAGCTTGCAGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(26): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01517.hp1 HG01928.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02080.hp2 HG02738.hp2 HG04184.hp1 NA18612.hp1 NA18946.hp1 NA18960.hp1 NA18962.hp1 NA18971.hp2 NA18998.hp1 NA18999.hp1 NA19005.hp2 NA19080.hp1 NA20129.hp2 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0003 a0004c0005t0016 a0004c0005t0001 a0004c0005t0003 a0004c0005t0016	a0004c0005t0001g0039 a0004c0005t0001g0054 a0004c0005t0001g0055 others(26): Show a0004c0005t0001g0039 a0004c0005t0001g0054 a0004c0005t0001g0055 a0004c0005t0001g0056 a0004c0005t0001g0057 a0004c0005t0001g0058 a0004c0005t0001g0059 a0004c0005t0001g0060 a0004c0005t0001g0061 a0004c0005t0001g0062 a0004c0005t0001g0063 a0004c0005t0001g0064 a0004c0005t0001g0065 a0004c0005t0001g0066 a0004c0005t0001g0067 a0004c0005t0001g0068 a0004c0005t0001g0069 a0004c0005t0001g0070 a0004c0005t0001g0071 a0004c0005t0001g0072 a0004c0005t0001g0073 a0004c0005t0001g0074 a0004c0005t0001g0087 a0004c0005t0001g0252 a0004c0005t0001g0253 a0004c0005t0001g0255 a0004c0005t0003g0029 a0004c0005t0003g0030 a0004c0005t0016g0212	29	314	0.0924	27	c.112 others(44): Show c.112-1679_112-1653dupTCACTGCAAGCTACGCCACCCGGGTTC	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	1/21			chr6	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01361.hp1 HG02071.hp2 others(4): Show HG00438.hp2 HG01361.hp1 HG02071.hp2 NA18953.hp2 NA18968.hp1 NA18977.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0042 a0001c0001t0001 a0001c0001t0004 a0001c0001t0042	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0145 others(4): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0172 a0001c0001t0004g0119 a0001c0001t0042g0159	7	134	0.0522	27	c.393 others(44): Show c.3930+323_3930+324insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(20): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	255	0.0039	27	c.38 others(38): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18969.hp2 NA19062.hp2 NA18966.hp2 NA18969.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0028	3	176	0.0170	27	c.196 others(44): Show c.1961+593_1961+594insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(20): Show CCACCACCAACAACAACAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0155 a0002c0002t0004g0155	1	157	0.0064	27	c.57 others(38): Show c.5713_*5714insTTGTTGTTGTTGTTGTTGTTGGTGGTG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(20): Show CCACCACCACCAACAACAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 NA18747.hp2 NA18978.hp2 others(3): Show HG03209.hp1 NA18747.hp2 NA18978.hp2 NA19066.hp1 NA19074.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0243 a0002c0002t0001g0253 a0002c0002t0001g0313 others(3): Show a0002c0002t0001g0243 a0002c0002t0001g0253 a0002c0002t0001g0313 a0002c0002t0001g0316 a0002c0002t0004g0246 a0002c0002t0004g0258	6	162	0.0370	27	c.57 others(38): Show c.5713_*5714insTTGTTGTTGTTGTTGTTGGTGGTGGTG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(20): Show CCACCACCACCACCAACAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01361.hp1 HG01934.hp1 others(11): Show HG00642.hp1 HG01361.hp1 HG01934.hp1 HG02015.hp1 HG02523.hp2 HG03225.hp2 HG03654.hp2 HG04199.hp2 NA18906.hp1 NA18973.hp1 NA18981.hp2 NA19005.hp1 NA19056.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0029 a0002c0002 a0002c0029	a0002c0002t0001 a0002c0002t0004 a0002c0002t0012 others(1): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0012 a0002c0029t0001	a0002c0002t0001g0202 a0002c0002t0001g0215 a0002c0002t0001g0219 others(11): Show a0002c0002t0001g0202 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0251 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0004g0238 a0002c0002t0004g0245 a0002c0002t0004g0256 a0002c0002t0004g0268 a0002c0002t0004g0270 a0002c0002t0004g0289 a0002c0002t0012g0214 a0002c0029t0001g0266	14	170	0.0824	27	c.57 others(38): Show c.5713_*5714insTTGTTGTTGTTGTTGGTGGTGGTGGTG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(20): Show CCACCACCACCACCACCAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp2 others(12): Show HG00280.hp2 HG00323.hp2 HG00733.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01433.hp2 HG02723.hp1 HG03471.hp1 HG04115.hp2 NA18906.hp2 NA19010.hp2 NA19060.hp1 NA19077.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0013 a0002c0002 a0002c0013	a0002c0002t0001 a0002c0002t0004 a0002c0013t0004 a0002c0002t0001 a0002c0002t0004 a0002c0013t0004	a0002c0002t0001g0025 a0002c0002t0001g0200 a0002c0002t0001g0203 others(12): Show a0002c0002t0001g0025 a0002c0002t0001g0200 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0225 a0002c0002t0001g0265 a0002c0002t0001g0312 a0002c0002t0004g0257 a0002c0013t0004g0222 a0002c0013t0004g0232	15	171	0.0877	27	c.57 others(38): Show c.5713_*5714insTTGTTGTTGTTGGTGGTGGTGGTGGTG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(20): Show CCACCACCACCACCACCACCAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG03579.hp2 NA19081.hp1 HG01070.hp1 HG03579.hp2 NA19081.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0003 a0002c0002 a0005c0003	a0002c0002t0001 a0002c0002t0004 a0005c0003t0001 a0002c0002t0001 a0002c0002t0004 a0005c0003t0001	a0002c0002t0001g0198 a0002c0002t0004g0287 a0005c0003t0001g0302 a0002c0002t0001g0198 a0002c0002t0004g0287 a0005c0003t0001g0302	3	159	0.0189	27	c.57 others(38): Show c.5713_*5714insTTGTTGTTGGTGGTGGTGGTGGTGGTG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(20): Show CCACCACCACCACCACCACCACCAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0051 a0003c0005t0005g0051	1	157	0.0064	27	c.57 others(38): Show c.5713_*5714insTTGTTGGTGGTGGTGGTGGTGGTGGTG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(20): Show ATTTATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	21	0.0476	27	c.590 others(44): Show c.5902+800_5902+801insATTTATTTATTTATTTATTTATTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(20): Show ATTTATTTATTTATTTATTTATTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG01993.hp2 others(1): Show HG00408.hp2 HG00544.hp2 HG01993.hp2 HG03130.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0006 a0007c0025 a0001c0001 a0001c0006 a0007c0025	a0001c0001t0001 a0001c0006t0001 a0007c0025t0001 a0001c0001t0001 a0001c0006t0001 a0007c0025t0001	a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0006t0001g0169 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0006t0001g0169 a0007c0025t0001g0084	4	24	0.1667	27	c.590 others(44): Show c.5902+800_5902+801insATTTATTTATTTATTTATTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(20): Show ATTTATTTATTTATTTATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03209.hp1 NA18962.hp2 others(1): Show HG01106.hp1 HG03209.hp1 NA18962.hp2 NA19010.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0003 a0011c0030 a0001c0001 a0002c0003 a0011c0030	a0001c0001t0001 a0002c0003t0001 a0011c0030t0001 a0001c0001t0001 a0002c0003t0001 a0011c0030t0001	a0001c0001t0001g0047 a0001c0001t0001g0111 a0002c0003t0001g0083 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0111 a0002c0003t0001g0083 a0011c0030t0001g0091	4	24	0.1667	27	c.590 others(44): Show c.5902+800_5902+801insATTTATTTATTTATTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(20): Show ATTTATTTATTTATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03490.hp1 HG02145.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0037 a0001c0007t0001g0086 a0001c0001t0001g0037 a0001c0007t0001g0086	2	22	0.0909	27	c.590 others(44): Show c.5902+800_5902+801insATTTATTTATTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(20): Show ATTTATTTATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0072 a0001c0001t0009g0072	1	21	0.0476	27	c.590 others(44): Show c.5902+800_5902+801insATTTATTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02897.hp1 HG01981.hp2 HG02897.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0001 a0005c0012t0001 a0001c0001t0001 a0005c0012t0001	a0001c0001t0001g0015 a0005c0012t0001g0005 a0001c0001t0001g0015 a0005c0012t0001g0005	2	22	0.0909	27	c.590 others(44): Show c.5902+822_5902+823insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP35_chr2_183119443_183166680	183121915	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01071.hp1 HG01109.hp2 others(23): Show HG00544.hp2 HG01071.hp1 HG01109.hp2 HG01123.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02135.hp1 HG02559.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 NA18939.hp2 NA18944.hp1 NA18955.hp1 NA18965.hp1 NA18978.hp1 NA18979.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0122 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0283	26	97	0.2680	27	c.-25 others(38): Show c.-2543_-2542insTTATTATTATTATTATTATTATTATTA	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding		2527		chr2	TogoVar
NUP35_chr2_183119443_183166680	183138269	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	160	0.0063	27	c.397 others(44): Show c.397+4647_397+4648insATATATATATATATATATATATATTTT	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP93_chr16_56725129_56855286	56808471	C C	CTATATAA others(20): Show CTATATAAAATATATAGTTATGTAACTA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0261 a0001c0003t0002g0261	1	327	0.0031	27	c.489 others(44): Show c.489+2843_489+2844insTAAAATATATAGTTATGTAACTATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	20	0.0500	27	c.274 others(46): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTTTTTTTTTTT T	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3724780	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	157	0.0064	27	c.184 others(44): Show c.1847+322_1847+323insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	15/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18954.hp2 NA18969.hp2 others(1): Show HG00738.hp2 NA18954.hp2 NA18969.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0048 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0060	4	108	0.0370	27	c.173 others(46): Show c.1730+1675_1730+1676insTTTTTTTTTTTTTTTTTTTTTTTTTT T	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTCCTTC others(20): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	304	0.0033	27	c.21 others(38): Show c.2119_*2120insAAAAGAAAGAAAGAAAGAAAGAAGGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCCTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02258.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	2	305	0.0066	27	c.21 others(38): Show c.2119_*2120insAAAGAAAGAAGGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCCTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	304	0.0033	27	c.21 others(38): Show c.2119_*2120insAAAGAAGGAAAGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUTF2_chr16_67841933_67877567	67842862	G G	GGCAGCAG others(20): Show GGCAGCAGCAGCAACAGCAGCAGCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	246	0.0041	27	c.-41 others(38): Show c.-4153_-4152insGCAGCAGCAGCAACAGCAGCAGCAGCA	NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding		4070		chr16	TogoVar
NUTF2_chr16_67841933_67877567	67842875	A A	ACAGCAGC others(20): Show ACAGCAGCAGCAGCAGCAGCAGCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	244	0.0041	27	c.-41 others(38): Show c.-4140_-4139insCAGCAGCAGCAGCAGCAGCAGCAGCAG	NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding		4057		chr16	TogoVar
NUTF2_chr16_67841933_67877567	67842902	A A	ACAGCAGC others(20): Show ACAGCAGCAGCAGCAGCAACAGCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	239	0.0042	27	c.-41 others(38): Show c.-4113_-4112insCAGCAGCAGCAGCAGCAACAGCAGCAG	NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding		4030		chr16	TogoVar
NUTM2E_chr10_79821739_79855878	79826383	G G	GGGCGGCG others(20): Show GGGCGGCGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0014 a0005c0008t0002g0014	1	62	0.0161	27	c.-37 others(38): Show c.-3702_-3701insGGCGGCGGCGGCGGCGGCGGCGGCGGC	NUTM2E	ENSG00000228570.8	transcript	ENST00000429984.5	protein_coding		355		chr10	TogoVar
NUTM2F_chr9_94313198_94333644	94313476	A A	AATATATT others(20): Show AATATATTTAATATAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	320	0.0031	27	c.49 others(38): Show c.4988_*4989insATATATATATATTTATATTAAATATAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4721		chr9	TogoVar
NXNL1_chr19_17450425_17465926	17450797	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	173	0.0058	27	c.48 others(38): Show c.4849_*4850insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		4627		chr19	TogoVar

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