Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA19079.hp1 HG01981.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0084 a0001c0001t0001g0044 a0001c0001t0001g0084	2	336	0.0060	35	c.743 others(50): Show c.743+589_743+623dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NANOS2_chr19_45908214_45919778	45908935	A A	AAGGGGGG others(28): Show AAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	442	0.0023	35	c.53 others(46): Show c.5341_*5342insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC T	NANOS2	ENSG00000188425.4	transcript	ENST00000341294.4	protein_coding		4278		chr19	TogoVar
NAPEPLD_chr7_103094776_103154099	103099593	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01261.hp2 HG02647.hp1 others(2): Show HG00597.hp2 HG01261.hp2 HG02647.hp1 HG04204.hp1 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0007t0001	a0001c0001t0001g0082 a0001c0001t0002g0011 a0002c0002t0001g0210 others(2): Show a0001c0001t0001g0082 a0001c0001t0002g0011 a0002c0002t0001g0210 a0002c0002t0001g0253 a0002c0007t0001g0251	5	381	0.0131	35	c.38 others(46): Show c.3835_*3836insCACACACACACACACACACACACACACACACACA C	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding		182		chr7	TogoVar
NASP_chr1_45579041_45623893	45587687	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0251	1	300	0.0033	35	c.59+ others(50): Show c.59+3483_59+3484insTATATATATATATATATATATATATATATA TATAA	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAT8_chr2_73635723_73647422	73636761	A A	AATAAATA others(28): Show AATAAATAAATAAATAAATAAATAAATAAAATAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0007 a0012c0011t0007	a0012c0011t0007g0016 a0012c0011t0007g0016	1	396	0.0025	35	c.41 others(46): Show c.4183_*4184insGTTTATTTTATTTATTTATTTATTTATTTATTTA T	NAT8	ENSG00000144035.4	transcript	ENST00000272425.4	protein_coding		3961		chr2	TogoVar
NAV1_chr1_201534127_201831969	201779598	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp2 HG02145.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0035 a0001c0001 a0003c0035	a0001c0001t0030 a0003c0035t0006 a0001c0001t0030 a0003c0035t0006	a0001c0001t0030g0126 a0003c0035t0006g0191 a0001c0001t0030g0126 a0003c0035t0006g0191	2	210	0.0095	35	c.208 others(52): Show c.2088-800_2088-799insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV3_chr12_77825894_78218010	77961101	C C	CGCATATA others(28): Show CGCATATATGTATATATGTATATGTTACATGTATAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0044 a0001c0005t0044	a0001c0005t0044g0148 a0001c0005t0044g0148	1	186	0.0054	35	c.415 others(52): Show c.415-5117_415-5116insTATATGTATATGTTACATGTATAAGCAT ATATGTA	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr12	TogoVar
NBEAL1_chr2_203009875_203230194	203165745	A A	ATTTATAT others(28): Show ATTTATATTTGAGGCCTGTCAAATTTATATTTGAGG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0280 a0001c0001t0019g0280	1	292	0.0034	35	c.571 others(52): Show c.5715-404_5715-403insTTTATATTTGAGGCCTGTCAAATTTATA TTTGAGG	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	36/55			chr2	TogoVar
NBEAL2_chr3_46974666_47014701	46994827	G G	GGATTAAC others(28): Show GGATTAACAATGCTGAAGGACTCTTAGTAGTAGTGA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0074 a0006c0007t0001g0074	1	360	0.0028	35	c.129 others(52): Show c.1297-204_1297-170dupGATTAACAATGCTGAAGGACTCTTAGTA GTAGTGA	NBEAL2	ENSG00000160796.18	transcript	ENST00000450053.8	protein_coding	12/53		INFO_REALIGN_3_PRIME	chr3	TogoVar
NBEA_chr13_34937270_35677736	35150793	T T	TTAGAGTA others(28): Show TTAGAGTAGAGTAGAGTAGAGTAGAGTAGAGTAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0004 a0005c0024t0004	a0005c0024t0004g0011 a0005c0024t0004g0011	1	122	0.0082	35	c.244 others(54): Show c.2446-4977_2446-4943dupAGTAGAGTAGAGTAGAGTAGAGTAGA GTAGAGTAG	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	18/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBL1_chr1_19639311_19663452	19649969	G G	GTTTTCTT others(28): Show GTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0220 a0001c0001t0009g0220	1	412	0.0024	35	c.-19 others(52): Show c.-19-5020_-19-5019insTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTT	NBL1	ENSG00000158747.15	transcript	ENST00000375136.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBPF15_chr1_144416390_144466669	144463598	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0309 a0001c0002t0001g0309	1	394	0.0025	35	c.-31 others(46): Show c.-3156_-3155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NBPF15	ENSG00000266338.7	transcript	ENST00000581897.7	protein_coding		1930		chr1	TogoVar
NCAPG2_chr7_158626169_158709804	158660401	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	378	0.0027	35	c.198 others(54): Show c.1989+1792_1989+1793insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	16/27			chr7	TogoVar
NCAPH2_chr22_50503224_50529780	50524455	A A	AAGGGAAG others(28): Show AAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0198 a0001c0001t0013g0198	1	384	0.0026	35	c.10 others(46): Show c.1081_*1115dupAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCT G	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding	20/20	1116	INFO_REALIGN_3_PRIME	chr22	TogoVar
NCF1_chr7_74769011_74794315	74791334	T T	TGGCCCAG others(28): Show TGGCCCAGGCTGGTCTTGAACTCCCTGCCCCAAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	330	0.0030	35	c.21 others(46): Show c.2174_*2175insGGCCCAGGCTGGTCTTGAACTCCCTGCCCCAAGC A	NCF1	ENSG00000158517.16	transcript	ENST00000289473.11	protein_coding		2020		chr7	TogoVar
NCKAP1L_chr12_54492752_54553243	54506796	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0285 a0001c0004t0002g0285	1	350	0.0029	35	c.307 others(52): Show c.307-1056_307-1055insAAAAAAAAAAAAAAAAATATATATATAT ATATATA	NCKAP1L	ENSG00000123338.13	transcript	ENST00000293373.11	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCOA3_chr20_47496887_47661872	47511556	T T	TATATATA others(28): Show TATATATATATATACACACACACACATACACATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03209.hp2 NA19009.hp2 HG00741.hp1 HG03209.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0273 a0001c0001t0022g0206 a0001c0001t0022g0207 a0001c0001t0001g0273 a0001c0001t0022g0206 a0001c0001t0022g0207	3	316	0.0095	35	c.-99 others(52): Show c.-99+9537_-99+9538insATATATATATATACACACACACACATAC ACATATA	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22			chr20	TogoVar
NCOA3_chr20_47496887_47661872	47511556	T T	TATATATA others(28): Show TATATATATATATATACACACACACATACACATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01168.hp1 others(19): Show HG00140.hp2 HG00639.hp1 HG01168.hp1 HG01169.hp2 HG01943.hp2 HG02135.hp1 HG02970.hp2 HG02976.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp1 HG04184.hp1 NA18948.hp1 NA18950.hp1 NA18959.hp2 NA18960.hp1 NA18969.hp1 NA18979.hp2 NA18995.hp1 NA19006.hp1 NA19056.hp2 NA19084.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0014 a0001c0001 a0008c0014	a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 a0008c0014t0010	a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0182 others(19): Show a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0182 a0001c0001t0001g0212 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0007g0148 a0001c0001t0017g0245 a0008c0014t0010g0241	22	316	0.0696	35	c.-99 others(52): Show c.-99+9537_-99+9538insATATATATATATATACACACACACATAC ACATATA	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22			chr20	TogoVar
NCOA3_chr20_47496887_47661872	47522099	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19010.hp2 NA18950.hp2 NA19010.hp2	a0004 a0011 a0004 a0011	a0004c0006 a0011c0019 a0004c0006 a0011c0019	a0004c0006t0006 a0011c0019t0001 a0004c0006t0006 a0011c0019t0001	a0004c0006t0006g0085 a0011c0019t0001g0088 a0004c0006t0006g0085 a0011c0019t0001g0088	2	316	0.0063	35	c.-99 others(54): Show c.-99+20103_-99+20104insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOA3_chr20_47496887_47661872	47541369	C C	CCCTCTCC others(28): Show CCCTCTCCTCTCCTCCCCTCCCCTCTCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0010 a0001c0005t0004g0010	1	316	0.0032	35	c.-99 others(54): Show c.-99+39354_-99+39355insTCCTCTCCTCCCCTCCCCTCTCCTCC CCTCTCCTC	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOA6_chr20_34709774_34830651	34751376	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	290	0.0035	35	c.167 others(52): Show c.1676-858_1676-857insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	8/14			chr20	TogoVar
NCOR1_chr17_16024157_16220534	16219580	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	282	0.0036	35	c.-42 others(46): Show c.-4290_-4289insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding		4047		chr17	TogoVar
NDC1_chr1_53760478_53843296	53825460	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02738.hp1 NA18906.hp1 HG01256.hp1 HG02738.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0011 a0001c0001t0002g0053 a0001c0001t0002g0054	3	196	0.0153	35	c.594 others(50): Show c.594+337_594+338insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding	5/17			chr1	TogoVar
NDE1_chr16_15645245_15731353	15712882	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	367	0.0027	35	c.948 others(54): Show c.948-11296_948-11295insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	NDE1	ENSG00000072864.16	transcript	ENST00000396354.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
NDNF_chr4_121030613_121077535	121038359	G G	GATAAAAT others(28): Show GATAAAATAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0242 a0001c0005t0004g0242	1	354	0.0028	35	c.314 others(50): Show c.314-737_314-703dupTTTATTTTATTTTATTTTATTTTATTTTAT TTTAT	NDNF	ENSG00000173376.14	transcript	ENST00000379692.9	protein_coding	3/3			chr4	TogoVar
NDUFA11_chr19_5889675_5908790	5907610	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	364	0.0028	35	c.-39 others(46): Show c.-3903_-3902insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NDUFA11	ENSG00000174886.14	transcript	ENST00000308961.5	protein_coding		3821		chr19	TogoVar
NDUFA12_chr12_94966333_95008697	94985002	C C	CATAACAT others(28): Show CATAACATAAAATAACATAAGATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00609.hp2 others(22): Show HG00099.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG01106.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG02559.hp1 HG02630.hp2 HG02698.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp2 HG03540.hp1 HG04184.hp1 NA19030.hp1 NA19072.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 others(22): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0189 a0001c0001t0001g0227 a0001c0001t0001g0352 a0001c0001t0001g0353	25	442	0.0566	35	c.257 others(52): Show c.257+9167_257+9168insTTTATTTTATTTTATCTTATGTTATTTT ATGTTAT	NDUFA12	ENSG00000184752.14	transcript	ENST00000327772.7	protein_coding	3/3			chr12	TogoVar
NDUFC2_chr11_78063297_78084862	78078728	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG01106.hp2 others(8): Show HG00544.hp2 HG00673.hp1 HG01106.hp2 HG02040.hp2 HG02738.hp1 NA18939.hp1 NA18941.hp2 NA18981.hp1 NA18995.hp1 NA19066.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0006 a0001c0001t0001g0106 a0001c0001t0001g0107	11	420	0.0262	35	c.166 others(50): Show c.166+850_166+851insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	NDUFC2	ENSG00000151366.13	transcript	ENST00000281031.5	protein_coding	1/2			chr11	TogoVar
NECAB2_chr16_83963244_84007776	83974920	G G	GGGGATGG others(28): Show GGGGATGGGAACAGGTGTGCAGGAGGTGTGGGTGCA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0268 a0004c0005t0005g0268	1	354	0.0028	35	c.226 others(52): Show c.226+2767_226+2768insAGGTGTGGGTGCAGGGATGGGAACAGGT GTGCAGG	NECAB2	ENSG00000103154.10	transcript	ENST00000305202.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	400	0.0025	35	c.490 others(52): Show c.490-2512_490-2511insAAAAAAAAAAAAAAATATATATATATAT ATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01975.hp1 HG04115.hp2 others(2): Show HG01255.hp1 HG01975.hp1 HG04115.hp2 NA18967.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0001c0001t0001 a0001c0001t0003 a0001c0001t0025	a0001c0001t0001g0239 a0001c0001t0001g0254 a0001c0001t0001g0303 others(2): Show a0001c0001t0001g0239 a0001c0001t0001g0254 a0001c0001t0001g0303 a0001c0001t0003g0171 a0001c0001t0025g0141	5	400	0.0125	35	c.490 others(52): Show c.490-2512_490-2511insAAAAAAAAAAAAATATATATATATATAT ATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02300.hp1 HG02723.hp2 others(1): Show HG01952.hp2 HG02300.hp1 HG02723.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0184 a0001c0001t0001g0259 a0001c0001t0003g0159 others(1): Show a0001c0001t0001g0184 a0001c0001t0001g0259 a0001c0001t0003g0159 a0001c0001t0003g0176	4	400	0.0100	35	c.490 others(52): Show c.490-2512_490-2511insAAAAAAAAAAATATATATATATATATAT ATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02698.hp2 NA18945.hp2 others(3): Show HG02080.hp1 HG02698.hp2 NA18945.hp2 NA18954.hp2 NA18971.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0003 a0001c0001t0001 a0001c0001t0003 a0002c0003t0003	a0001c0001t0001g0268 a0001c0001t0001g0279 a0001c0001t0003g0179 others(3): Show a0001c0001t0001g0268 a0001c0001t0001g0279 a0001c0001t0003g0179 a0001c0001t0003g0181 a0001c0001t0003g0214 a0002c0003t0003g0189	6	400	0.0150	35	c.490 others(52): Show c.490-2512_490-2511insAAAAAAAAATATATATATATATATATAT ATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp1 HG01361.hp2 others(1): Show HG00323.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0002g0146 others(1): Show a0001c0001t0001g0342 a0001c0001t0001g0344 a0001c0001t0002g0146 a0001c0001t0002g0147	4	400	0.0100	35	c.490 others(52): Show c.490-2512_490-2511insAAAAAAATATATATATATATATATATAT ATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0051 a0001c0002t0010g0051	1	400	0.0025	35	c.490 others(52): Show c.490-2512_490-2511insAAATATATATATATATATATATATATAT ATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEGR1_chr1_71390943_72287539	71560460	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0057 a0001c0002t0014g0057	1	64	0.0156	35	c.940 others(54): Show c.940+32356_940+32357insTATATATATATATATATATATATATA TATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	6/6			chr1	TogoVar
NELL1_chr11_20664586_21580686	20915718	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0058 a0006c0023t0001g0058	1	88	0.0114	35	c.604 others(52): Show c.604-2464_604-2463insATATATATATATATATATATATATATAT ATATATA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19			chr11	TogoVar
NELL1_chr11_20664586_21580686	21002294	C C	CAGTTACC others(28): Show CAGTTACCTACATTAATTAGTTACCTACATTAATGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG00735.hp2 others(44): Show HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01169.hp2 HG01258.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0010	a0001c0001 a0001c0004 a0001c0005 others(17): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0024 a0002c0002 a0002c0003 a0002c0007 a0002c0009 a0002c0010 a0002c0014 a0003c0015 a0003c0020 a0005c0012 a0007c0016 a0008c0021 a0009c0018 a0010c0019	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0006t0001 a0001c0006t0002 a0001c0006t0007 a0001c0008t0001 a0001c0011t0001 a0001c0024t0003 a0002c0002t0001 a0002c0003t0001 a0002c0003t0004 a0002c0007t0001 a0002c0007t0005 a0002c0009t0001 a0002c0010t0001 a0002c0010t0003 a0002c0014t0001 a0003c0015t0001 a0003c0020t0001 a0005c0012t0001 a0007c0016t0002 a0008c0021t0001 a0009c0018t0001 a0010c0019t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0022 others(44): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0071 a0001c0001t0002g0076 a0001c0004t0001g0019 a0001c0004t0001g0049 a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0005t0001g0013 a0001c0005t0001g0015 a0001c0005t0001g0068 a0001c0005t0002g0026 a0001c0005t0004g0055 a0001c0006t0001g0011 a0001c0006t0002g0082 a0001c0006t0007g0014 a0001c0008t0001g0079 a0001c0011t0001g0035 a0001c0011t0001g0070 a0001c0024t0003g0017 a0002c0002t0001g0018 a0002c0002t0001g0029 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0003t0001g0003 a0002c0003t0001g0016 a0002c0003t0001g0034 a0002c0003t0001g0047 a0002c0003t0004g0044 a0002c0007t0001g0002 a0002c0007t0001g0028 a0002c0007t0005g0004 a0002c0009t0001g0069 a0002c0010t0001g0083 a0002c0010t0003g0081 a0002c0014t0001g0023 a0003c0015t0001g0008 a0003c0020t0001g0075 a0005c0012t0001g0057 a0007c0016t0002g0033 a0008c0021t0001g0077 a0009c0018t0001g0045 a0010c0019t0001g0031	47	88	0.5341	35	c.130 others(56): Show c.1300+41747_1300+41748insAATTAGTTACCTACATTAATGTAG TTACCTACATT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NEU4_chr2_241804193_241822413	241805214	T T	TCCCCCTC others(28): Show TCCCCCTCAGCCCAGGGACCTCTGCAGGCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01358.hp2 HG01256.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	319	0.0063	35	c.-40 others(46): Show c.-4064_-4063insCCCCCTCAGCCCAGGGACCTCTGCAGGCCTCCCT C	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3978		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805386	G G	GACCTCCG others(28): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	319	0.0031	35	c.-38 others(46): Show c.-3892_-3891insACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG A	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3806		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805392	C C	CGCAGGCC others(28): Show CGCAGGCCACCTTCCCTCCTCAGCCCAGGAACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	35	c.-38 others(46): Show c.-3886_-3885insGCAGGCCACCTTCCCTCCTCAGCCCAGGAACCTC T	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3800		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805655	G G	GACCTCCG others(28): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	319	0.0031	35	c.-36 others(46): Show c.-3623_-3622insACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG A	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3537		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805963	T T	TCCGCAGG others(28): Show TCCGCAGGCCACCCTCCCACCCTCCCTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0120 a0001c0005t0001g0120	1	319	0.0031	35	c.-33 others(46): Show c.-3315_-3314insCCGCAGGCCACCCTCCCACCCTCCCTCCCTCCCT C	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3229		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806131	C C	CAGCCCAG others(28): Show CAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	319	0.0031	35	c.-31 others(46): Show c.-3147_-3146insAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCT T	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3061		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807269	C C	CAACCCAG others(28): Show CAACCCAGGGACCTCTGCAGGCCACTCTCCCCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0177 a0002c0003t0002g0177	1	319	0.0031	35	c.-20 others(46): Show c.-2009_-2008insAACCCAGGGACCTCTGCAGGCCACTCTCCCCTCT T	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1923		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807607	T T	TCCCTCCC others(28): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0019 a0002c0003t0002g0019	2	319	0.0063	35	c.-16 others(46): Show c.-1671_-1670insCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC A	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1585		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807610	C C	CTCCCCCC others(28): Show CTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	319	0.0031	35	c.-16 others(46): Show c.-1668_-1667insTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACC T	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1582		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807650	T T	TCCCTCCC others(28): Show TCCCTCCCCCCTCAACCCAGGAACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	319	0.0031	35	c.-16 others(46): Show c.-1628_-1627insCCCTCCCCCCTCAACCCAGGAACCTCCGCAGGCC A	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1542		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807650	T T	TCCCTCCC others(28): Show TCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	319	0.0031	35	c.-16 others(46): Show c.-1628_-1627insCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCC A	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1542		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807650	T T	TCCCTCCC others(28): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	319	0.0031	35	c.-16 others(46): Show c.-1628_-1627insCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC A	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1542		chr2	TogoVar

Search by Variant

Search

Search Results (Total: 4618 hits)