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
NSD2_chr4_1866393_1987192	1872591	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	30	0.0333	34	c.-30 others(51): Show c.-30+1050_-30+1051insTGTGTGTGTGTGAGAGAGAGAGAGAGAG AGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSG2_chr5_174040706_174114179	174080525	T T	TTCTTTCT others(27): Show TTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01099.hp1 others(22): Show HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01109.hp2 HG01243.hp1 HG01891.hp2 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03942.hp1 HG04204.hp1 NA18906.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0002t0003	a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 others(22): Show a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0246 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0006g0239 a0001c0001t0006g0248 a0001c0001t0006g0255 a0001c0001t0006g0260 a0001c0001t0023g0272 a0001c0002t0003g0235	25	198	0.1263	34	c.213 others(53): Show c.213+16213_213+16214insTTCTCTCTCTCTCTCTCTCTCTCTTT CTCTCTCT	NSG2	ENSG00000170091.11	transcript	ENST00000303177.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18944.hp2 HG02717.hp1 NA18944.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0003 a0007c0007t0027 a0003c0003t0003 a0007c0007t0027	a0003c0003t0003g0010 a0007c0007t0027g0268 a0003c0003t0003g0010 a0007c0007t0027g0268	2	236	0.0085	34	c.754 others(49): Show c.754-454_754-453insAAAAAAAAAAAAAATATATATATATATATA TATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0027 a0007c0007t0027	a0007c0007t0027g0267 a0007c0007t0027g0267	1	235	0.0043	34	c.754 others(49): Show c.754-454_754-453insAAAAAAAAAAAATATATATATATATATATA TATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0166 a0003c0003t0003g0166	1	235	0.0043	34	c.754 others(49): Show c.754-454_754-453insAAAAAAAAAATATATATATATATATATATA TATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0171 a0003c0003t0003g0171	1	235	0.0043	34	c.754 others(49): Show c.754-454_754-453insAAAAAAAATATATATATATATATATATATA TATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	90	0.0111	34	c.658 others(51): Show c.658-4615_658-4614insATATATATATATATATATATATATATAT ATATTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600959	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	184	0.0054	34	c.658 others(51): Show c.658-4633_658-4632insGTATGTATATATATATATATATATATAT ATATAT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600959	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	184	0.0054	34	c.658 others(51): Show c.658-4633_658-4632insGTGTATATATATATATATATATATATAT ATATAT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103183291	A A	ATTTTATA others(27): Show ATTTTATATATATATATATTATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18981.hp1 HG00544.hp2 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0027 a0001c0002t0003g0064 a0001c0002t0003g0027 a0001c0002t0003g0064	2	272	0.0074	34	c.-16 others(53): Show c.-168-1964_-168-1963insGATATATATATATATAATATATATAT ATATAAAA	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	1/18			chr10	TogoVar
NTM_chr11_131365615_132341822	131401799	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATGTGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	33	0.0303	34	c.82+ others(51): Show c.82+30941_82+30942insGTGTATATATATATATATATATATATAT ATATAT	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(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp1 HG01884.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0022 a0001c0001t0009g0050 a0001c0001t0002g0022 a0001c0001t0009g0050	2	67	0.0299	34	c.83- others(53): Show c.83-180841_83-180840insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN4_chr12_95652807_95795764	95694319	G G	GGCGGCCA others(27): Show GGCGGCCACTCCCTCCGCGCGGCCACTCCCTCCGC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	279	0.0036	34	c.118 others(55): Show c.1181-10609_1181-10608insGCGGAGGGAGTGGCCGCGCGGAGG GAGTGGCCGC	NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding	5/9			chr12	TogoVar
NTNG1_chr1_107136039_107489923	107181550	G G	GAAGGTGG others(27): Show GAAGGTGGCTTTTAAACATTTTCCAGAATCCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp1 others(96): Show HG00140.hp1 HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG02071.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18984.hp1 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19068.hp2 NA19088.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0031 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0016 a0001c0002t0017 a0001c0003t0003 a0001c0003t0007 a0001c0005t0046	a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 others(96): Show a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0036 a0001c0001t0002g0044 a0001c0001t0002g0071 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0003g0021 a0001c0001t0003g0040 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0003g0064 a0001c0001t0003g0092 a0001c0001t0003g0119 a0001c0001t0004g0007 a0001c0001t0004g0017 a0001c0001t0004g0022 a0001c0001t0004g0039 a0001c0001t0005g0072 a0001c0001t0005g0120 a0001c0001t0005g0146 a0001c0001t0006g0027 a0001c0001t0006g0037 a0001c0001t0006g0114 a0001c0001t0006g0143 a0001c0001t0007g0113 a0001c0001t0007g0122 a0001c0001t0008g0062 a0001c0001t0010g0090 a0001c0001t0010g0127 a0001c0001t0011g0015 a0001c0001t0011g0045 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0016 a0001c0001t0013g0093 a0001c0001t0013g0126 a0001c0001t0014g0054 a0001c0001t0014g0059 a0001c0001t0015g0058 a0001c0001t0016g0055 a0001c0001t0018g0087 a0001c0001t0018g0107 a0001c0001t0019g0088 a0001c0001t0019g0117 a0001c0001t0020g0006 a0001c0001t0021g0074 a0001c0001t0022g0061 a0001c0001t0022g0068 a0001c0001t0023g0083 a0001c0001t0024g0089 a0001c0001t0025g0103 a0001c0001t0031g0086 a0001c0001t0034g0057 a0001c0001t0039g0032 a0001c0001t0040g0110 a0001c0001t0041g0085 a0001c0001t0042g0115 a0001c0001t0044g0033 a0001c0001t0045g0121 a0001c0001t0048g0102 a0001c0001t0050g0035 a0001c0001t0051g0069 a0001c0001t0052g0135 a0001c0001t0053g0080 a0001c0001t0054g0067 a0001c0001t0055g0084 a0001c0001t0056g0082 a0001c0001t0057g0079 a0001c0002t0001g0112 a0001c0002t0002g0131 a0001c0002t0008g0144 a0001c0002t0009g0043 a0001c0002t0016g0060 a0001c0002t0017g0005 a0001c0003t0003g0077 a0001c0003t0007g0132 a0001c0005t0046g0139	99	148	0.6689	34	c.246 others(53): Show c.246+32713_246+32714insGGTGGCTTTTAAACATTTTCCAGAAT CCTTTCAA	NTNG1	ENSG00000162631.20	transcript	ENST00000370068.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NTNG1_chr1_107136039_107489923	107386133	A A	ATATATAT others(27): Show ATATATATATACACATATATATACTTATATGTATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02486.hp2 others(7): Show HG01109.hp1 HG02145.hp2 HG02486.hp2 HG02572.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG06807.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0001t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0136 a0001c0001t0001g0148 a0001c0001t0007g0122 a0001c0002t0001g0112	10	148	0.0676	34	c.888 others(51): Show c.888-9011_888-9010insCACATATATATACTTATATGTATGTATA TATATA	NTNG1	ENSG00000162631.20	transcript	ENST00000370068.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUBPL_chr14_31556404_31866224	31666263	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0040 a0001c0001t0009g0040	1	88	0.0114	34	c.383 others(51): Show c.383-7092_383-7091insTATATATATATATATATATATATATATA TTTATT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	4/10			chr14	TogoVar
NUBPL_chr14_31556404_31866224	31739184	A A	ATATATAT others(27): Show ATATATATATATTATATTCTATATATATATTATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0172 a0001c0003t0027g0172	1	266	0.0038	34	c.514 others(53): Show c.514-48584_514-48551dupTATATTCTATATATATATTATATTAT ATATATAT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp1 HG02647.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0061 a0001c0001t0002g0023 a0001c0001t0002g0061	2	23	0.0870	34	c.514 others(53): Show c.514-27635_514-27634insTGTGTGTGTGAGAGAGAGAGAGAGAG AGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0142 a0001c0001t0008g0142	1	22	0.0455	34	c.514 others(53): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGAGAGAGAGAG AGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19082.hp2 NA19079.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0221 a0001c0001t0001g0202 a0001c0001t0001g0221	2	23	0.0870	34	c.514 others(53): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18522.hp1 NA19003.hp1 HG02523.hp2 NA18522.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0188 a0001c0001t0001g0207 a0001c0001t0010g0197 a0001c0001t0001g0188 a0001c0001t0001g0207 a0001c0001t0010g0197	3	24	0.1250	34	c.514 others(53): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31841917	C C	CTTTTGTT others(27): Show CTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0150	1	139	0.0072	34	c.694 others(51): Show c.694-4550_694-4549insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB2_chr11_17271739_17337211	17288880	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	264	0.0038	34	c.-1+ others(49): Show c.-1+5938_-1+5939insCACACACACACACACACACACACACACACA CACA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCB2_chr11_17271739_17337211	17288882	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02559.hp1 NA18950.hp1 others(1): Show HG01928.hp2 HG02559.hp1 NA18950.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0111 a0001c0001t0002g0012 a0001c0001t0002g0188 others(1): Show a0001c0001t0001g0111 a0001c0001t0002g0012 a0001c0001t0002g0188 a0001c0001t0002g0202	4	172	0.0233	34	c.-1+ others(49): Show c.-1+5975_-1+6008dupCACACACACACACACACACACACACACACA CACA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUCB2_chr11_17271739_17337211	17288950	C C	CACACACA others(27): Show CACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0161 a0002c0002t0002g0161	1	255	0.0039	34	c.-1+ others(49): Show c.-1+6008_-1+6009insCACACACACACACACACACACACACACACA CATA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDCD1_chr8_109235919_109339087	109311556	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0171 a0005c0005t0007g0171	1	350	0.0029	34	c.273 others(53): Show c.273+10752_273+10753insATATATATATATATATATATATATAT ATATATAT	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19010.hp1 HG02886.hp2 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0190 a0003c0003t0003g0196 a0003c0003t0003g0190 a0003c0003t0003g0196	2	117	0.0171	34	c.273 others(53): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATATA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02965.hp2 others(1): Show HG02451.hp1 HG02647.hp1 HG02965.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0003c0003t0004 a0001c0001t0001 a0003c0003t0003 a0003c0003t0004	a0001c0001t0001g0331 a0003c0003t0003g0044 a0003c0003t0003g0047 others(1): Show a0001c0001t0001g0331 a0003c0003t0003g0044 a0003c0003t0003g0047 a0003c0003t0004g0333	4	119	0.0336	34	c.273 others(53): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATACA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDT12_chr5_103543855_103567789	103557280	G G	GGTATATA others(27): Show GGTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG04204.hp2 HG02056.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0078 a0001c0001t0003g0109 a0001c0001t0002g0078 a0001c0001t0003g0109	2	164	0.0122	34	c.797 others(51): Show c.797-1183_797-1182insATATATATATATATATATATATATATAT ATATAC	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding	3/6			chr5	TogoVar
NUDT12_chr5_103543855_103567789	103557280	G G	GGTGTATA others(27): Show GGTGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	163	0.0061	34	c.797 others(51): Show c.797-1183_797-1182insATATATATATATATATATATATATATAT ATACAC	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding	3/6			chr5	TogoVar
NUDT13_chr10_73105455_73136823	73125651	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp2 HG03098.hp1 HG03486.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0009 a0002c0002 a0006c0009	a0002c0002t0003 a0006c0009t0004 a0002c0002t0003 a0006c0009t0004	a0002c0002t0003g0016 a0006c0009t0004g0149 a0002c0002t0003g0016 a0006c0009t0004g0149	2	141	0.0142	34	c.703 others(49): Show c.703+168_703+169insTATATATATATATATATATATATATATATA TATA	NUDT13	ENSG00000166321.14	transcript	ENST00000357321.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NUDT4_chr12_93372925_93413146	93406275	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0175 a0001c0001t0175	a0001c0001t0175g0053 a0001c0001t0175g0053	1	64	0.0156	34	c.69 others(45): Show c.6926_*6927insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	5/5	6927	INFO_REALIGN_3_PRIME	chr12	TogoVar
NUF2_chr1_163316954_163360759	163359848	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01952.hp1 HG02083.hp1 others(1): Show HG01358.hp1 HG01952.hp1 HG02083.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0189 a0001c0002t0001g0193 a0003c0005t0001g0150 others(1): Show a0001c0002t0001g0189 a0001c0002t0001g0193 a0003c0005t0001g0150 a0003c0005t0001g0154	4	326	0.0123	34	c.43 others(45): Show c.4379_*4380insTATATATATATATATATATATATATATATATATA	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding		4090		chr1	TogoVar
NUFIP2_chr17_29250839_29299148	29276029	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01934.hp2 HG02055.hp2 HG01123.hp2 HG01934.hp2 HG02055.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0006 a0001c0001 a0001c0003 a0003c0006	a0001c0001t0005 a0001c0003t0005 a0003c0006t0028 a0001c0001t0005 a0001c0003t0005 a0003c0006t0028	a0001c0001t0005g0275 a0001c0003t0005g0290 a0003c0006t0028g0216 a0001c0001t0005g0275 a0001c0003t0005g0290 a0003c0006t0028g0216	3	184	0.0163	34	c.200 others(53): Show c.2003-8500_2003-8499insATATATATATATATATATATATATAT ATATATAT	NUFIP2	ENSG00000108256.9	transcript	ENST00000225388.9	protein_coding	2/3			chr17	TogoVar
NUMA1_chr11_71997864_72085542	72049559	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG04228.hp2 NA18992.hp1 HG03579.hp1 HG04228.hp2 NA18992.hp1	a0001 a0017 a0021 a0001 a0017 a0021	a0001c0001 a0017c0030 a0021c0025 a0001c0001 a0017c0030 a0021c0025	a0001c0001t0001 a0017c0030t0001 a0021c0025t0001 a0001c0001t0001 a0017c0030t0001 a0021c0025t0001	a0001c0001t0001g0118 a0017c0030t0001g0225 a0021c0025t0001g0203 a0001c0001t0001g0118 a0017c0030t0001g0225 a0021c0025t0001g0203	3	152	0.0197	34	c.-32 others(53): Show c.-32-13585_-32-13584insTATATATATATATATATATATATATA TATATATA	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73395037	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	51	0.0196	34	c.-10 others(55): Show c.-101+14866_-101+14899dupCACACACACACACACACACACACA CACACACACA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229472707	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01071.hp1 HG02615.hp2 others(4): Show HG00438.hp2 HG01071.hp1 HG02615.hp2 HG03130.hp1 HG03942.hp2 NA18980.hp2 NA19060.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002	a0002c0002t0002g0219 a0002c0002t0002g0224 a0002c0002t0002g0234 others(4): Show a0002c0002t0002g0219 a0002c0002t0002g0224 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0003c0003t0001g0023 a0003c0003t0002g0116	7	152	0.0461	34	c.185 others(53): Show c.1852-1904_1852-1903insATATATATATATATATATATATATAT ATATATAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0115 a0001c0001t0017g0115	1	128	0.0078	34	c.393 others(51): Show c.3930+323_3930+324insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(27): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG03654.hp2 NA18990.hp2 others(2): Show HG00597.hp1 HG03654.hp2 NA18990.hp2 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0196 a0001c0001t0002g0275 a0001c0001t0002g0288 others(2): Show a0001c0001t0002g0196 a0001c0001t0002g0275 a0001c0001t0002g0288 a0001c0001t0002g0301 a0001c0001t0004g0285	5	259	0.0193	34	c.38 others(45): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP205_chr7_135552917_135653753	135570788	T T	TAATATAT others(27): Show TAATATATTATATTAATATATATTAATTATATTAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02572.hp1 HG02572.hp2 others(7): Show HG00639.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 others(7): Show a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0003t0001g0100	10	117	0.0855	34	c.29- others(47): Show c.29-317_29-316insAATATATTATATTAATATATATTAATTATATT AA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42			chr7	TogoVar
NUP205_chr7_135552917_135653753	135570788	T T	TAATATAT others(27): Show TAATATATTATATTAATATATATTGATTATATTAA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	108	0.0093	34	c.29- others(47): Show c.29-317_29-316insAATATATTATATTAATATATATTGATTATATT AA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42			chr7	TogoVar
NUP205_chr7_135552917_135653753	135570788	T T	TTATATAT others(27): Show TTATATATTATATTAATATATATTGATTATATTAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	108	0.0093	34	c.29- others(47): Show c.29-294_29-293insGATTATATTAATATATATTATATTAATATATA TT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP205_chr7_135552917_135653753	135629469	A A	ATCTCTCT others(27): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0210 a0001c0003t0001g0211	2	76	0.0263	34	c.493 others(51): Show c.4933-867_4933-834dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	34/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP54_chr4_76109664_76153397	76151611	T T	TGTCGGAA others(27): Show TGTCGGAAGATAAAGGTGAAGAAATCTCTCAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0029 a0002c0002t0003g0029	1	368	0.0027	34	c.-32 others(45): Show c.-3238_-3237insTTTCTGAGAGATTTCTTCACCTTTATCTTCCGAC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding		3215		chr4	TogoVar
NUP62CL_chrX_107118427_107211433	107152049	G G	GATATATA others(27): Show GATATATATATATATATATATATATATTCAGATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	180	0.0056	34	c.530 others(51): Show c.530+1089_530+1122dupATATCTGAATATATATATATATATATAT ATATAT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	7/8			chrX	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	20	0.0500	34	c.274 others(53): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	105	0.0095	34	c.173 others(53): Show c.1730+1675_1730+1676insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28535592	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0052 a0001c0001t0055g0052	1	350	0.0029	34	c.20 others(45): Show c.2090_*2091insAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2426		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535621	T T	TTTCTTTC others(27): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0078 a0001c0001t0059g0078	1	318	0.0031	34	c.20 others(45): Show c.2061_*2062insGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2397		chr16	TogoVar
NUPR2_chr7_56109681_56121417	56115455	G G	GTATATAT others(27): Show GTATATATATATATATATGTATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	287	0.0035	34	c.6+ others(47): Show c.6+559_*7-558insAATATATATATATATACATATATATATATATA TA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar

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