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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NME8_chr7_37843597_37905397	37847185	G G	GGAAGAAG others(23): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01358.hp1 HG02071.hp1 others(3): Show HG00408.hp2 HG01358.hp1 HG02071.hp1 NA18956.hp1 NA18978.hp2 NA19068.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0004 a0002c0002 a0002c0008 others(1): Show a0001c0004 a0002c0002 a0002c0008 a0011c0029	a0001c0004t0001 a0002c0002t0001 a0002c0008t0001 others(1): Show a0001c0004t0001 a0002c0002t0001 a0002c0008t0001 a0011c0029t0001	a0001c0004t0001g0226 a0002c0002t0001g0016 a0002c0002t0001g0019 others(3): Show a0001c0004t0001g0226 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0008t0001g0210 a0002c0008t0001g0272 a0011c0029t0001g0017	6	388	0.0155	30	c.-17 others(41): Show c.-1784_-1783insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1411		chr7	TogoVar
NME8_chr7_37843597_37905397	37847185	G G	GGAGGAAG others(23): Show GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 NA18940.hp1 HG02165.hp2 NA18940.hp1	a0003 a0003	a0003c0003 a0003c0010 a0003c0003 a0003c0010	a0003c0003t0001 a0003c0010t0001 a0003c0003t0001 a0003c0010t0001	a0003c0003t0001g0123 a0003c0010t0001g0129 a0003c0003t0001g0123 a0003c0010t0001g0129	2	388	0.0052	30	c.-17 others(41): Show c.-1784_-1783insGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1411		chr7	TogoVar
NME8_chr7_37843597_37905397	37847220	A A	AAGAAGAA others(23): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG02895.hp1 HG01070.hp1 HG02895.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0027 a0001c0001 a0013c0027	a0001c0001t0004 a0013c0027t0005 a0001c0001t0004 a0013c0027t0005	a0001c0001t0004g0254 a0013c0027t0005g0271 a0001c0001t0004g0254 a0013c0027t0005g0271	2	388	0.0052	30	c.-17 others(41): Show c.-1749_-1748insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1376		chr7	TogoVar
NME8_chr7_37843597_37905397	37847220	A A	AAGAAGAA others(23): Show AAGAAGAAGAAGAAGAAGAAGAAGGAGACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0124 a0003c0010t0001g0124	1	388	0.0026	30	c.-17 others(41): Show c.-1749_-1748insAGAAGAAGAAGAAGAAGAAGAAGGAGACGG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1376		chr7	TogoVar
NME8_chr7_37843597_37905397	37848327	G G	GAACAAGA others(23): Show GAACAAGAAGAACAAGAAGAACAAGAAGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0186 a0002c0009t0001g0186	1	388	0.0026	30	c.-64 others(39): Show c.-642_-641insAACAAGAAGAACAAGAAGAACAAGAAGAAC		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					269		chr7	TogoVar
NME8_chr7_37843597_37905397	37848345	G G	GAAGAACA others(23): Show GAAGAACAAGAACAAGAAGAACAAGAAGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	388	0.0026	30	c.-62 others(39): Show c.-624_-623insAAGAACAAGAACAAGAAGAACAAGAAGAAC		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					251		chr7	TogoVar
NME8_chr7_37843597_37905397	37848345	G G	GAAGAAGA others(23): Show GAAGAAGAAGAAGAAGAAGAACAAGAAGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG04199.hp1 HG02615.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0009 a0001c0007 a0002c0009	a0001c0007t0001 a0002c0009t0001 a0001c0007t0001 a0002c0009t0001	a0001c0007t0001g0191 a0002c0009t0001g0225 a0001c0007t0001g0191 a0002c0009t0001g0225	2	388	0.0052	30	c.-62 others(39): Show c.-624_-623insAAGAAGAAGAAGAAGAAGAACAAGAAGAAC		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					251		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183341725	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAACAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0169 a0001c0001t0030g0169	1	258	0.0039	30	c.86- others(47): Show c.86-47933_86-47932insTTTTTTTGTTTTTTTTTTTTTTTTTTTT TT		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NMUR2_chr5_152386546_152410279	152397012	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp2 HG02273.hp2 HG01074.hp2 HG01167.hp2 HG02273.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0035 a0002c0003t0002g0065 a0002c0003t0002g0035 a0002c0003t0002g0065	3	446	0.0067	30	c.811 others(47): Show c.811+1047_811+1048insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding	2/3						chr5	TogoVar
NOCT_chr4_139010781_139050939	139043980	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	384	0.0026	30	c.461 others(45): Show c.461-635_461-634insTATATATATATATATATATATATATATATA		NOCT	ENSG00000151014.6	transcript	ENST00000280614.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
NOCT_chr4_139010781_139050939	139044003	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0256 a0001c0003t0008g0256	1	384	0.0026	30	c.461 others(45): Show c.461-635_461-634insTATATATATATATATATATATATATATACA		NOCT	ENSG00000151014.6	transcript	ENST00000280614.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
NOL10_chr2_10565754_10694975	10595144	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	372	0.0027	30	c.142 others(49): Show c.1423-5423_1423-5394dupCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	17/20						chr2	TogoVar
NOL10_chr2_10565754_10694975	10638325	G G	GACGTAAC others(23): Show GACGTAACGTAACGTAACGTAACGTAACGTA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	372	0.0027	30	c.102 others(49): Show c.1026+5994_1026+5995insTACGTTACGTTACGTTACGTTACGTT ACGT		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	13/20						chr2	TogoVar
NOL4L_chr20_32438059_32590333	32488805	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0063 a0001c0001t0006g0063	1	196	0.0051	30	c.700 others(49): Show c.700-14064_700-14063insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10						chr20	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	168	0.0060	30	c.773 others(47): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT TT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	168	0.0060	30	c.773 others(47): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT AT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18954.hp1 HG02071.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0026 a0001c0008t0001g0108 a0001c0001t0001g0026 a0001c0008t0001g0108	2	337	0.0059	30	c.180 others(47): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT TT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	337	0.0030	30	c.180 others(47): Show c.1806+486_1806+487insATATATATATATATATATATATTTTTTT TT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0034 a0001c0004t0034	a0001c0004t0034g0002 a0001c0004t0034g0002	1	182	0.0055	30	c.105 others(49): Show c.105+11493_105+11494insATATATATATATATTTTTTTTTTTTT TTTT		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(23): Show ATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	182	0.0055	30	c.105 others(49): Show c.105+11493_105+11494insATATATATTTTTTTTTTTTTTTTTTT TTTT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	182	0.0055	30	c.177 others(49): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264468	C C	CTCCTCTC others(23): Show CTCCTCTCCTCTCCTCCCCTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02965.hp2 HG02896.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0005 a0001c0001t0003 a0001c0004t0005	a0001c0001t0003g0099 a0001c0004t0005g0101 a0001c0001t0003g0099 a0001c0004t0005g0101	2	182	0.0110	30	c.178 others(49): Show c.178-22876_178-22875insTCCTCTCCTCTCCTCCCCTCCCCTCC CCTG		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9						chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264468	C C	CTCCTCTC others(23): Show CTCCTCTCCTCTCCTCTCCTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01257.hp2 HG01109.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0151 a0001c0004t0003g0172 a0001c0001t0001g0151 a0001c0004t0003g0172	2	182	0.0110	30	c.178 others(49): Show c.178-22876_178-22875insTCCTCTCCTCTCCTCTCCTCCCCTCC CCTG		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9						chr1	TogoVar
NOS1_chr12_117203142_117366626	117335729	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG03492.hp1 others(3): Show HG02622.hp1 HG02970.hp1 HG03492.hp1 NA18945.hp1 NA19007.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0011 a0001c0001t0105 a0001c0002t0053 others(3): Show a0001c0001t0011 a0001c0001t0105 a0001c0002t0053 a0001c0005t0003 a0001c0005t0028 a0001c0005t0030	a0001c0001t0011g0163 a0001c0001t0105g0138 a0001c0002t0053g0016 others(3): Show a0001c0001t0011g0163 a0001c0001t0105g0138 a0001c0002t0053g0016 a0001c0005t0003g0151 a0001c0005t0028g0121 a0001c0005t0030g0143	6	294	0.0204	30	c.-42 others(49): Show c.-420-4270_-420-4241dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28						chr12	TogoVar
NOS2_chr17_27751766_27805529	27765533	A A	AGGGGGGG others(23): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18986.hp1 NA18986.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0193 a0012c0015t0001g0193	1	402	0.0025	30	c.242 others(43): Show c.2428+1_2428+2insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC		NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding	20/26						chr17	TogoVar
NOS2_chr17_27751766_27805529	27803120	G G	GAGGAAAG others(23): Show GAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18985.hp1 NA19066.hp1 others(1): Show NA18945.hp1 NA18985.hp1 NA19066.hp1 NA19084.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0026 a0001c0001 a0011c0026	a0001c0001t0001 a0011c0026t0001 a0001c0001t0001 a0011c0026t0001	a0001c0001t0001g0047 a0001c0001t0001g0144 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0144 a0001c0001t0001g0145 a0011c0026t0001g0115	4	402	0.0100	30	c.-28 others(41): Show c.-2856_-2855insTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT		NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding					2592		chr17	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(23): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00544.hp2 HG01952.hp2 HG01975.hp1 others(10): Show HG00544.hp2 HG01952.hp2 HG01975.hp1 HG02055.hp1 HG02258.hp1 HG02622.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp2 NA18949.hp2 NA18968.hp1 NA19062.hp2	a0006 a0006	a0006c0007 a0006c0044 a0006c0007 a0006c0044	a0006c0007t0001 a0006c0007t0003 a0006c0007t0005 others(4): Show a0006c0007t0001 a0006c0007t0003 a0006c0007t0005 a0006c0007t0006 a0006c0007t0008 a0006c0007t0040 a0006c0044t0001	a0006c0007t0001g0001 a0006c0007t0001g0136 a0006c0007t0001g0155 others(10): Show a0006c0007t0001g0001 a0006c0007t0001g0136 a0006c0007t0001g0155 a0006c0007t0001g0159 a0006c0007t0001g0215 a0006c0007t0001g0229 a0006c0007t0003g0176 a0006c0007t0005g0209 a0006c0007t0006g0091 a0006c0007t0006g0195 a0006c0007t0008g0142 a0006c0007t0040g0143 a0006c0044t0001g0093	13	260	0.0500	30	c.44_ others(35): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(41): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	164	0.0061	30	c.74- others(47): Show c.74-11073_74-11072insATATATATATATATATATATATATATTT TT		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(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	164	0.0061	30	c.74- others(47): Show c.74-11073_74-11072insATATATATATATATATATATTTTTTTTT TT		NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041055	A A	AATATATA others(23): Show AATATATATATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0160 a0001c0003t0003g0160	1	168	0.0060	30	c.74- others(47): Show c.74-11069_74-11068insATATATATATATATGTATATATATATAT AT		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041069	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0047	1	168	0.0060	30	c.74- others(47): Show c.74-11083_74-11082insATATATATATATATATATATATATATAT AT		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NOTCH4_chr6_32189843_32229067	32214484	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	437	0.0023	30	c.202 others(47): Show c.2022-230_2022-229insGTGTATATATATATATATATATATATAT AT		NOTCH4	ENSG00000204301.6	transcript	ENST00000375023.3	protein_coding	12/29						chr6	TogoVar
NOTCH4_chr6_32189843_32229067	32214484	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0132 a0005c0004t0002g0132	1	437	0.0023	30	c.202 others(47): Show c.2022-230_2022-229insGTATATATATATATATATATATATATAT AT		NOTCH4	ENSG00000204301.6	transcript	ENST00000375023.3	protein_coding	12/29						chr6	TogoVar
NOX1_chrX_100838324_100879359	100853332	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	302	0.0033	30	c.805 others(47): Show c.805-2008_805-2007insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA		NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12						chrX	TogoVar
NOX3_chr6_155390368_155460839	155445981	C C	CTATATAT others(23): Show CTATATATATATAATATATATATGCTATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp2 HG02895.hp2 others(2): Show HG00639.hp2 HG02451.hp2 HG02895.hp2 NA18522.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0080 a0001c0001t0001g0165 a0001c0001t0001g0166 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0005t0002g0036	5	362	0.0138	30	c.341 others(47): Show c.341-2564_341-2563insTATATAGCATATATATATTATATATATA TA		NOX3	ENSG00000074771.4	transcript	ENST00000159060.3	protein_coding	4/13						chr6	TogoVar
NOX4_chr11_89319353_89496375	89438846	T T	TTATATAA others(23): Show TTATATAATATATTATATATTATATATATAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01255.hp2 HG01256.hp1 others(5): Show HG01071.hp1 HG01255.hp2 HG01256.hp1 HG01891.hp1 HG02258.hp2 HG02273.hp2 HG02698.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0129 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0014g0109	8	288	0.0278	30	c.475 others(47): Show c.475+1812_475+1841dupTTATATATATAATATATAATATATTATA TA		NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	6/17						chr11	TogoVar
NOX4_chr11_89319353_89496375	89455744	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	288	0.0035	30	c.154 others(47): Show c.154-3850_154-3849insCATATATATATATATATATATATATATA TA		NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17						chr11	TogoVar
NOX4_chr11_89319353_89496375	89486520	A A	ATATATAT others(23): Show ATATATATGTGTATATATACATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01952.hp1 NA19065.hp2 HG01081.hp2 HG01952.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0058 a0001c0001t0001 a0001c0001t0058	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0058g0005 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0058g0005	3	288	0.0104	30	c.153 others(47): Show c.153+3908_153+3937dupCACACATATATGTATATATACACATATA TA		NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17						chr11	TogoVar
NOX5_chr15_69009695_69067762	69045536	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	396	0.0025	30	c.164 others(49): Show c.1648-1285_1648-1284insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT		NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr15	TogoVar
NOX5_chr15_69009695_69067762	69045560	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0302 a0001c0003t0024g0302	1	396	0.0025	30	c.164 others(49): Show c.1648-1252_1648-1251insTCTTTCTTTCTTTCTTTCTTTTTCTT TCTT		NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr15	TogoVar
NOX5_chr15_69009695_69067762	69045569	T T	TTTCTTCT others(23): Show TTTCTTCTTACTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0011 a0017c0018t0011	a0017c0018t0011g0275 a0017c0018t0011g0275	1	396	0.0025	30	c.164 others(49): Show c.1648-1252_1648-1251insTCTTCTTACTTTCTTTCTTTCTTTCT TTCT		NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr15	TogoVar
NOXRED1_chr14_77389021_77428523	77408892	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0164 a0001c0002t0007g0164	1	298	0.0034	30	c.350 others(47): Show c.350-1248_350-1247insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		NOXRED1	ENSG00000165555.10	transcript	ENST00000380835.7	protein_coding	2/5						chr14	TogoVar
NPAS2_chr2_100815139_101001829	100842081	G G	GCGCGCGC others(23): Show GCGCGCGCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02572.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0269 a0001c0001t0003g0238 a0001c0001t0003g0269	2	288	0.0069	30	c.-23 others(49): Show c.-23+21668_-23+21669insGCGCGCGCACACACACACACACACAC ACAC		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS3_chr14_32933879_33809173	32938486	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0057 a0001c0001t0027g0057	1	92	0.0109	30	c.-83 others(39): Show c.-831_-830insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding					392		chr14	TogoVar
NPAS3_chr14_32933879_33809173	33087109	T T	TATAATAT others(23): Show TATAATATAGTATACAATATAATATTGTATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02055.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0033 a0001c0001t0006g0020 a0001c0001t0005g0033 a0001c0001t0006g0020	2	92	0.0217	30	c.140 others(49): Show c.140+31149_140+31178dupATATAGTATACAATATAATATTGTAT AATA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33087235	A A	ATACAATA others(23): Show ATACAATATTGTACAATATTGTACAATATTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02622.hp2 HG02976.hp2 others(5): Show HG00738.hp2 HG02622.hp2 HG02976.hp2 HG03195.hp2 HG03540.hp1 HG03579.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0002 a0001c0001t0006 a0001c0001t0027 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0027 a0001c0001t0035 a0001c0001t0050 a0002c0002t0049 a0002c0005t0015	a0001c0001t0002g0011 a0001c0001t0002g0040 a0001c0001t0006g0021 others(5): Show a0001c0001t0002g0011 a0001c0001t0002g0040 a0001c0001t0006g0021 a0001c0001t0027g0057 a0001c0001t0035g0076 a0001c0001t0050g0089 a0002c0002t0049g0053 a0002c0005t0015g0068	8	92	0.0870	30	c.140 others(49): Show c.140+31270_140+31271insGTACAATATTGTACAATATTGTACAA TATT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33301306	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0029 a0001c0001t0030g0029	1	92	0.0109	30	c.386 others(49): Show c.386-65863_386-65862insATATATATATATATATATATATATAT ATAT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33307593	A A	ATGTGTGT others(23): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0036 a0001c0001t0021g0036	1	92	0.0109	30	c.386 others(49): Show c.386-59574_386-59573insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33526310	C C	CTGGGAAA others(23): Show CTGGGAAATGTTTCTCCATTTTCCTATAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18522.hp2 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0050 a0001c0001t0010 a0001c0001t0050	a0001c0001t0010g0055 a0001c0001t0050g0089 a0001c0001t0010g0055 a0001c0001t0050g0089	2	92	0.0217	30	c.469 others(49): Show c.469-33809_469-33780dupGGGAAATGTTTCTCCATTTTCCTATA AAAT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33563537	C C	CACACACA others(23): Show CACACACACACACACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00738.hp2 others(10): Show HG00140.hp1 HG00738.hp1 HG00738.hp2 HG01175.hp2 HG02622.hp2 HG02717.hp2 HG03041.hp2 HG03453.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0002c0007 a0003c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0020 a0001c0001t0035 a0001c0003t0043 a0002c0002t0011 a0002c0005t0015 a0002c0007t0017 a0003c0006t0013	a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0062 others(10): Show a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0062 a0001c0001t0003g0002 a0001c0001t0005g0032 a0001c0001t0011g0016 a0001c0001t0020g0008 a0001c0001t0035g0076 a0001c0003t0043g0091 a0002c0002t0011g0027 a0002c0005t0015g0068 a0002c0007t0017g0024 a0003c0006t0013g0001	13	92	0.1413	30	c.558 others(47): Show c.558+3328_558+3329insCACACACACACACACACACACACAGAGA GA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr14	TogoVar

Search by Variant

Search

Search Results