Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
NLRP2_chr19_54961374_55006138	54976810	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02717.hp1 NA18960.hp1 others(4): Show HG00597.hp1 HG02717.hp1 NA18960.hp1 NA18960.hp2 NA18969.hp1 NA18981.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0010 a0002c0003 a0001c0004 a0001c0010 a0002c0003	a0001c0004t0001 a0001c0010t0001 a0002c0003t0003 a0001c0004t0001 a0001c0010t0001 a0002c0003t0003	a0001c0004t0001g0171 a0001c0010t0001g0268 a0002c0003t0003g0213 others(4): Show a0001c0004t0001g0171 a0001c0010t0001g0268 a0002c0003t0003g0213 a0002c0003t0003g0251 a0002c0003t0003g0252 a0002c0003t0003g0381 a0002c0003t0003g0411	7	248	0.0282	23	c.326 others(38): Show c.326-941_326-940insTTTTTTTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54976812	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0006 a0006	a0006c0048 a0006c0048	a0006c0048t0001 a0006c0048t0001	a0006c0048t0001g0292 a0006c0048t0001g0292	1	80	0.0125	23	c.326 others(38): Show c.326-923_326-922insTTTTTTTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54984329	G G	GTGTTTTT others(16): Show GTGTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0341 a0004c0007t0003g0341	1	69	0.0145	23	c.203 others(40): Show c.2030+602_2030+603insGTTTTTTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54984485	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG01496.hp2 others(3): Show HG00735.hp1 HG01192.hp1 HG01496.hp2 HG02976.hp2 HG03540.hp1 HG04115.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0025	a0001c0002 a0001c0004 a0001c0010 others(3): Show a0001c0002 a0001c0004 a0001c0010 a0002c0009 a0009c0020 a0025c0053	a0001c0002t0001 a0001c0004t0002 a0001c0010t0001 others(3): Show a0001c0002t0001 a0001c0004t0002 a0001c0010t0001 a0002c0009t0004 a0009c0020t0001 a0025c0053t0003	a0001c0002t0001g0337 a0001c0004t0002g0162 a0001c0010t0001g0184 others(3): Show a0001c0002t0001g0337 a0001c0004t0002g0162 a0001c0010t0001g0184 a0002c0009t0004g0022 a0009c0020t0001g0169 a0025c0053t0003g0394	6	70	0.0857	23	c.203 others(40): Show c.2031-547_2031-546insTTTTTTTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56010742	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00597.hp1 others(57): Show HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00735.hp2 HG01070.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01517.hp1 HG01517.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG02723.hp2 HG02735.hp2 HG02970.hp2 HG03209.hp1 HG03239.hp2 HG03492.hp2 HG03688.hp2 HG04199.hp2 HG04204.hp2 NA18906.hp2 NA18940.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18971.hp2 NA18983.hp2 NA18984.hp2 NA18994.hp1 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19055.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013 a0015 a0020 a0039 a0043	a0001c0001 a0001c0003 a0001c0009 others(30): Show a0001c0001 a0001c0003 a0001c0009 a0001c0014 a0001c0022 a0001c0023 a0001c0030 a0001c0085 a0001c0122 a0001c0123 a0002c0004 a0003c0043 a0003c0075 a0003c0110 a0004c0007 a0004c0020 a0004c0053 a0005c0006 a0005c0034 a0006c0005 a0006c0011 a0007c0010 a0007c0072 a0008c0017 a0008c0037 a0011c0038 a0012c0018 a0013c0026 a0015c0044 a0015c0116 a0020c0047 a0039c0119 a0043c0089	a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 others(31): Show a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 a0001c0014t0001 a0001c0022t0001 a0001c0023t0001 a0001c0030t0001 a0001c0085t0001 a0001c0122t0001 a0001c0123t0001 a0002c0004t0002 a0003c0043t0001 a0003c0075t0001 a0003c0110t0001 a0004c0007t0001 a0004c0007t0003 a0004c0020t0001 a0004c0053t0003 a0005c0006t0001 a0005c0034t0001 a0006c0005t0002 a0006c0011t0002 a0007c0010t0001 a0007c0072t0001 a0008c0017t0001 a0008c0037t0001 a0011c0038t0001 a0012c0018t0002 a0013c0026t0002 a0015c0044t0002 a0015c0116t0002 a0020c0047t0002 a0039c0119t0002 a0043c0089t0002	a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0093 others(57): Show a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0093 a0001c0001t0001g0122 a0001c0001t0001g0159 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0003t0001g0015 a0001c0003t0001g0111 a0001c0009t0001g0272 a0001c0009t0001g0280 a0001c0009t0001g0334 a0001c0014t0001g0119 a0001c0014t0001g0171 a0001c0022t0001g0264 a0001c0022t0001g0265 a0001c0023t0001g0245 a0001c0023t0001g0250 a0001c0030t0001g0188 a0001c0030t0001g0340 a0001c0085t0001g0224 a0001c0122t0001g0339 a0001c0123t0001g0328 a0002c0004t0002g0183 a0002c0004t0002g0186 a0002c0004t0002g0189 a0002c0004t0002g0236 a0003c0043t0001g0123 a0003c0075t0001g0197 a0003c0110t0001g0282 a0004c0007t0001g0299 a0004c0007t0003g0162 a0004c0020t0001g0260 a0004c0053t0003g0309 a0005c0006t0001g0113 a0005c0006t0001g0143 a0005c0006t0001g0158 a0005c0006t0001g0165 a0005c0006t0001g0226 a0005c0006t0001g0231 a0005c0034t0001g0330 a0006c0005t0002g0276 a0006c0005t0002g0294 a0006c0005t0002g0300 a0006c0011t0002g0194 a0006c0011t0002g0196 a0006c0011t0002g0225 a0007c0010t0001g0223 a0007c0072t0001g0233 a0008c0017t0001g0227 a0008c0037t0001g0005 a0011c0038t0001g0155 a0012c0018t0002g0177 a0013c0026t0002g0141 a0015c0044t0002g0156 a0015c0116t0002g0335 a0020c0047t0002g0176 a0020c0047t0002g0195 a0039c0119t0002g0285 a0043c0089t0002g0244	60	192	0.3125	23	c.508 others(40): Show c.508+1902_508+1903insAAAAAAAAAAAAAAAAAAAAAAA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56013596	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19012.hp2 NA19240.hp2 HG02622.hp1 NA19012.hp2 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0023 a0006c0005 a0001c0023 a0006c0005	a0001c0023t0001 a0006c0005t0002 a0001c0023t0001 a0006c0005t0002	a0001c0023t0001g0245 a0001c0023t0001g0249 a0006c0005t0002g0291 a0001c0023t0001g0245 a0001c0023t0001g0249 a0006c0005t0002g0291	3	84	0.0357	23	c.509 others(40): Show c.509-2125_509-2124insTTTTTTTTTTTTTTTTTTTTTTT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56030714	C C	CTTCTTTT others(16): Show CTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03471.hp1 HG02647.hp1 HG03471.hp1	a0004 a0005 a0004 a0005	a0004c0020 a0005c0112 a0004c0020 a0005c0112	a0004c0020t0003 a0005c0112t0001 a0004c0020t0003 a0005c0112t0001	a0004c0020t0003g0100 a0005c0112t0001g0101 a0004c0020t0003g0100 a0005c0112t0001g0101	2	3	0.6667	23	c.227 others(42): Show c.2277-1895_2277-1894insCTTTTTTTTTTTTTTTTTTTTTT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56030714	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0114 a0001c0114	a0001c0114t0001 a0001c0114t0001	a0001c0114t0001g0039 a0001c0114t0001g0039	1	2	0.5000	23	c.227 others(42): Show c.2277-1879_2277-1878insTTTTTTTTTTTTTTTTTTTTTTT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55945573	C C	CTTTTCTT others(16): Show CTTTTCTTTTCTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02109.hp2 NA18992.hp1 HG01346.hp2 HG02109.hp2 NA18992.hp1	a0005 a0009 a0005 a0009	a0005c0005 a0009c0010 a0005c0005 a0009c0010	a0005c0005t0001 a0009c0010t0002 a0005c0005t0001 a0009c0010t0002	a0005c0005t0001g0167 a0005c0005t0001g0173 a0009c0010t0002g0038 a0005c0005t0001g0167 a0005c0005t0001g0173 a0009c0010t0002g0038	3	84	0.0357	23	c.-23 others(34): Show c.-2330_-2329insTTTTCTTTTCTTTTTTTTTTTTT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		2258		chr19	TogoVar
NME1_chr17_51148559_51167168	51150839	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	142	0.0070	23	c.-28 others(34): Show c.-2828_-2827insAAAAAAAAAAAAAAAAAAAAAAA	NME1	ENSG00000239672.8	transcript	ENST00000393196.8	protein_coding		2719		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	184	0.0054	23	c.48 others(34): Show c.4818_*4819insAAAAAAAAAAAAAAAATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	184	0.0054	23	c.48 others(34): Show c.4818_*4819insAAAAAAAAAAAATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	184	0.0054	23	c.48 others(34): Show c.4818_*4819insAAAAAAAAAATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	184	0.0054	23	c.48 others(34): Show c.4818_*4819insAAAAAATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME5_chr5_138110175_138144428	138122441	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02486.hp2 HG02683.hp2 others(2): Show HG01192.hp2 HG02486.hp2 HG02683.hp2 HG03491.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0015 a0001c0001t0001g0158 a0001c0001t0001g0161	5	95	0.0526	23	c.437 others(40): Show c.437-3528_437-3506dupTTTTTTTTTTTTTTTTTTTTTTT	NME5	ENSG00000112981.5	transcript	ENST00000265191.4	protein_coding	4/5			chr5	TogoVar
NME8_chr7_37843597_37905397	37848243	A A	AAGAAGAG others(16): Show AAGAAGAGGAAGAAGAGGAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	373	0.0027	23	c.-72 others(32): Show c.-726_-725insAGAAGAGGAAGAAGAGGAAGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		353		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183341725	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01109.hp1 others(25): Show HG00735.hp1 HG00738.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01258.hp1 HG01361.hp2 HG01952.hp1 HG02015.hp1 HG02155.hp1 HG02572.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp2 HG03225.hp1 HG03831.hp2 HG03834.hp1 HG04204.hp1 NA18964.hp1 NA18975.hp1 NA18977.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19063.hp1 NA19085.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0036 a0001c0003t0006	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0028 others(25): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0078 a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0128 a0001c0001t0002g0141 a0001c0001t0003g0145 a0001c0001t0004g0088 a0001c0001t0005g0099 a0001c0001t0005g0155 a0001c0001t0007g0120 a0001c0001t0007g0129 a0001c0001t0007g0132 a0001c0001t0008g0059 a0001c0001t0011g0080 a0001c0001t0013g0084 a0001c0001t0013g0150 a0001c0001t0014g0135 a0001c0001t0018g0181 a0001c0001t0022g0133 a0001c0001t0036g0114 a0001c0003t0006g0204	28	113	0.2478	23	c.86- others(40): Show c.86-47933_86-47932insTTTTTTTTTTTTTTTTTTTTTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NOB1_chr16_69736871_69759926	69741052	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	33	0.0303	23	c.12 others(34): Show c.1279_*1280insTTTTTTTTTTTTTTTTTTTTTTT	NOB1	ENSG00000141101.13	transcript	ENST00000268802.10	protein_coding		818		chr16	TogoVar
NOCT_chr4_139010781_139050939	139039170	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	20	0.0500	23	c.191 others(40): Show c.191-3887_191-3886insAAAAAAAAAAAAAAAAAAAAAAA	NOCT	ENSG00000151014.6	transcript	ENST00000280614.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
NOL10_chr2_10565754_10694975	10690415	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0127 a0002c0003t0003g0127	1	107	0.0093	23	c.-55 others(32): Show c.-555_-554insTTTTTTTTTTTTTTTTTTTTTTT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding		441		chr2	TogoVar
NOL4L_chr20_32438059_32590333	32485058	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	46	0.0217	23	c.700 others(42): Show c.700-10339_700-10317dupTTTTTTTTTTTTTTTTTTTTTTT	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4_chr18_33846100_34229913	34024192	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	114	0.0088	23	c.773 others(40): Show c.773-4592_773-4591insATATATATATATATATATATATA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	35	0.0286	23	c.773 others(40): Show c.773-4594_773-4593insATATATATATATATATATATATA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34099362	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02622.hp2 HG02818.hp2 others(2): Show HG01123.hp1 HG02622.hp2 HG02818.hp2 HG02897.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0149 a0001c0001t0001g0161 a0001c0001t0001g0163 others(2): Show a0001c0001t0001g0149 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0002g0036 a0001c0004t0001g0141	5	79	0.0633	23	c.639 others(40): Show c.639+4684_639+4685insTTTTTTTTTTTTTTTTTTTTTTT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	4/10			chr18	TogoVar
NOM1_chr7_156944712_156978176	156977306	T T	TATGGAGT others(16): Show TATGGAGTCTTTAGGGTTTTCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0185 a0002c0002t0003g0185	1	424	0.0024	23	c.76 others(34): Show c.7603_*7604insATGGAGTCTTTAGGGTTTTCTAG	NOM1	ENSG00000146909.8	transcript	ENST00000275820.4	protein_coding		4131		chr7	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	61	0.0164	23	c.180 others(40): Show c.1806+486_1806+487insATATATATATATATATATTTTTT	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP53_chr19_47740546_47762058	47761310	G G	GTTTCCTT others(16): Show GTTTCCTTTGAAAAATGTAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	23	c.43 others(34): Show c.4305_*4306insTTTCCTTTGAAAAATGTAAAACA	NOP53	ENSG00000105373.19	transcript	ENST00000246802.10	protein_coding		4253		chr19	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	60	0.0167	23	c.105 others(42): Show c.105+11493_105+11494insATATATATATATTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0129 a0001c0001t0022g0129	1	60	0.0167	23	c.105 others(42): Show c.105+11493_105+11494insATATATATATTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0139 a0001c0001t0009g0139	1	60	0.0167	23	c.105 others(42): Show c.105+11493_105+11494insATATATATTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0179 a0001c0004t0003g0179	1	60	0.0167	23	c.105 others(42): Show c.105+11502_105+11503insTTTTTTTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162168698	T T	TCTTCCTC others(16): Show TCTTCCTCCTTCCCTTCCTCTTTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 NA18979.hp1 others(1): Show HG00639.hp1 HG01106.hp2 NA18979.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 a0001c0001t0001 a0001c0002t0001 a0001c0003t0003	a0001c0001t0001g0131 a0001c0002t0001g0079 a0001c0002t0001g0080 others(1): Show a0001c0001t0001g0131 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0003t0003g0149	4	180	0.0222	23	c.177 others(42): Show c.177+14231_177+14253dupTTCCCTTCCTCTTTCCTTCCTCC	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162324416	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0114 a0001c0003t0006g0114	1	24	0.0417	23	c.345 others(40): Show c.345-8595_345-8573dupTTTTTTTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117256284	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02896.hp2 HG02280.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0143 a0001c0010t0044 a0001c0001t0143 a0001c0010t0044	a0001c0001t0143g0190 a0001c0010t0044g0011 a0001c0001t0143g0190 a0001c0010t0044g0011	2	87	0.0230	23	c.253 others(42): Show c.2531+2112_2531+2113insAAAAAAAAAAAAAAAAAAAAAAA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	16/28			chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136534862	G G	GCCCCCAG others(16): Show GCCCCCAGTCCCTCCCCACAGACC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0071 a0001c0011t0002g0071	1	321	0.0031	23	c.140 others(40): Show c.140+9161_140+9162insGGTCTGTGGGGAGGGACTGGGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	40	0.0250	23	c.74- others(40): Show c.74-11073_74-11072insATATATATATATATATATTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18993.hp1 NA19077.hp1 NA18966.hp1 NA18993.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0003g0110 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0003g0110	3	42	0.0714	23	c.74- others(40): Show c.74-11073_74-11072insATATATATATATATTTTTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041071	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 HG03486.hp2 HG02559.hp1 HG02717.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016	3	53	0.0566	23	c.74- others(40): Show c.74-11085_74-11084insATATATATATATATATATATATT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOX3_chr6_155390368_155460839	155445874	A A	ATATATAT others(16): Show ATATATATATGCTATATATATATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	359	0.0028	23	c.341 others(40): Show c.341-2457_341-2456insAATATATATATAGCATATATATA	NOX3	ENSG00000074771.4	transcript	ENST00000159060.3	protein_coding	4/13			chr6	TogoVar
NOXRED1_chr14_77389021_77428523	77408892	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01069.hp1 others(9): Show HG00099.hp2 HG00738.hp2 HG01069.hp1 HG01167.hp1 HG01258.hp2 HG01884.hp1 HG01981.hp2 HG01993.hp2 HG02451.hp1 HG03710.hp1 HG06807.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007	a0001c0002t0002g0166 a0001c0002t0003g0008 a0001c0002t0003g0029 others(8): Show a0001c0002t0002g0166 a0001c0002t0003g0008 a0001c0002t0003g0029 a0001c0002t0003g0034 a0001c0002t0003g0040 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0058 a0001c0002t0007g0167	12	29	0.4138	23	c.350 others(40): Show c.350-1248_350-1247insAAAAAAAAAAAAAAAAAAAAAAA	NOXRED1	ENSG00000165555.10	transcript	ENST00000380835.7	protein_coding	2/5			chr14	TogoVar
NPAS1_chr19_47014837_47050775	47039850	T T	TTCTCATT others(16): Show TTCTCATTTCTCTGGTCTTTCATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp1 others(31): Show HG00099.hp1 HG00140.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp2 HG01106.hp1 HG01928.hp2 HG01943.hp1 HG02523.hp2 HG02698.hp1 HG03669.hp2 HG03831.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18940.hp1 NA18945.hp2 NA18948.hp2 NA18953.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp1 NA18988.hp1 NA19001.hp2 NA19005.hp1 NA19010.hp1 NA19054.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0014 a0006c0011 a0001c0002 a0001c0014 a0006c0011	a0001c0002t0001 a0001c0014t0001 a0006c0011t0001 a0001c0002t0001 a0001c0014t0001 a0006c0011t0001	a0001c0002t0001g0009 a0001c0002t0001g0017 a0001c0002t0001g0019 others(31): Show a0001c0002t0001g0009 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0067 a0001c0002t0001g0074 a0001c0002t0001g0083 a0001c0002t0001g0097 a0001c0002t0001g0118 a0001c0002t0001g0125 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0162 a0001c0002t0001g0190 a0001c0002t0001g0201 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0219 a0001c0002t0001g0226 a0001c0002t0001g0284 a0001c0002t0001g0347 a0001c0002t0001g0348 a0001c0002t0001g0353 a0001c0002t0001g0369 a0001c0002t0001g0370 a0001c0002t0001g0377 a0001c0002t0001g0381 a0001c0014t0001g0362 a0006c0011t0001g0253	34	416	0.0817	23	c.962 others(38): Show c.962+293_962+315dupTTCTCTGGTCTTTCATCTCTCAT	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS2_chr2_100815139_101001829	100820037	A A	AGGAGGAG others(16): Show AGGAGGAGGGTGGGGGTAGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0003 a0010c0015t0003	a0010c0015t0003g0177 a0010c0015t0003g0177	1	286	0.0035	23	c.-40 others(32): Show c.-400_-399insGGAGGAGGGTGGGGGTAGGAGGG	NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding		101		chr2	TogoVar
NPAS2_chr2_100815139_101001829	100963416	T T	TTTGTTTT others(16): Show TTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	279	0.0036	23	c.599 others(38): Show c.599-636_599-635insTGTTTTGTTTTGTTTTGTTGTTT	NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS3_chr14_32933879_33809173	32938524	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	62	0.0161	23	c.-79 others(32): Show c.-793_-792insGAGAGAGAGAGAGAGAGAGAGAG	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding		354		chr14	TogoVar
NPAS3_chr14_32933879_33809173	33544827	A A	ATTATATA others(16): Show ATTATATATATATATATAATTATG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp2 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0043 a0001c0001t0023 a0001c0001t0043	a0001c0001t0023g0017 a0001c0001t0043g0092 a0001c0001t0023g0017 a0001c0001t0043g0092	2	67	0.0299	23	c.469 others(42): Show c.469-15293_469-15292insTATATATATATATATAATTATGT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPBWR2_chr20_64098802_64112565	64105725	G G	GATGGTGG others(16): Show GATGGTGGGCGTGATGATGGGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0096 a0001c0002t0045g0096	1	117	0.0085	23	c.10 others(32): Show c.104_*105insACCCCCATCATCACGCCCACCAT	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	104		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64105725	G G	GGTGGTGG others(16): Show GGTGGTGGGCGTGATGATGGGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02647.hp1 HG03453.hp1 others(1): Show HG01884.hp1 HG02647.hp1 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0023 a0001c0002t0022 a0001c0002t0023	a0001c0002t0022g0024 a0001c0002t0023g0025 a0001c0002t0022g0024 a0001c0002t0023g0025	4	120	0.0333	23	c.10 others(32): Show c.104_*105insACCCCCATCATCACGCCCACCAC	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	104		chr20	TogoVar
NPC1_chr18_23526442_23591506	23550479	C C	CTTCTTTT others(16): Show CTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	52	0.0192	23	c.165 others(42): Show c.1654+1147_1654+1148insAAAAAAAAAAAAAAAAAAAAGAA	NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	10/24			chr18	TogoVar
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18960.hp2 NA18999.hp1 HG03486.hp1 NA18960.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0122 a0001c0001t0002g0173 a0001c0001t0003g0042 a0001c0001t0002g0122 a0001c0001t0002g0173 a0001c0001t0003g0042	3	118	0.0254	23	c.255 others(40): Show c.255+6648_255+6670dupTTTTTTTTTTTTTTTTTTTTTTT	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
NPEPPS_chr17_47526108_47628276	47594629	A A	ATGTTATG others(16): Show ATGTTATGTTATGTTATGTTATGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0338 a0001c0001t0007g0338	1	340	0.0029	23	c.142 others(42): Show c.1427-1708_1427-1707insGTTATGTTGTTATGTTATGTTAT	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr17	TogoVar

Search by Variant

Search

Search Results