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
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0025 a0003c0003t0025	a0003c0003t0025g0214 a0003c0003t0025g0214	1	388	0.0026	42	c.754 others(57): Show c.754-454_754-453insAAAAAAAAAAAATATATATATATATATATA TATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAAATA others(35): Show AAAAAATATATATATATATATATATATATATATACACATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0317 a0001c0001t0015g0317	1	346	0.0029	42	c.658 others(59): Show c.658-4615_658-4614insATATATGTGTATATATATATATATATAT ATATATATATTTTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN7_chr4_40744955_40816184	40757651	T T	TTGTGTGT others(35): Show TTGTGTGTATATATATATACATTGTGTGTATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0153 a0001c0013t0002g0153	1	392	0.0026	42	c.299 others(59): Show c.299-2778_299-2777insGTATATATATATACATTGTGTGTATATA TATACACACTGTGT	NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NTM_chr11_131365615_132341822	132275738	A A	ATATATAT others(35): Show ATATATATACGTATATATATGTATATATATACGTATATATACG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	86	0.0116	42	c.527 others(61): Show c.527-31943_527-31942insCGTATATATATGTATATATATACGTA TATATACGTATATATA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTSR1_chr20_62703836_62767771	62763343	C C	CACTGAGC others(35): Show CACTGAGCGACCAGACGACCCCCGACGCGCCCGTTACCCAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0089 a0001c0002t0042g0089	1	316	0.0032	42	c.30 others(53): Show c.3076_*3077insACTGAGCGACCAGACGACCCCCGACGCGCCCGTT ACCCAATT	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		573		chr20	TogoVar
NTS_chr12_85869295_85887992	85879660	T T	TTGTATAT others(35): Show TTGTATATTTTATGTATATAAAATATATTTTTTGTATATTTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(22): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00642.hp1 HG00735.hp2 HG01099.hp1 HG01255.hp2 HG01496.hp2 HG01517.hp1 HG01891.hp2 HG02004.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG02486.hp1 HG03098.hp1 HG03490.hp1 HG03492.hp2 NA18939.hp2 NA18955.hp1 NA18973.hp1 NA18979.hp2 NA18993.hp2 NA19009.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153	25	420	0.0595	42	c.360 others(59): Show c.360+1099_360+1140dupTTTATGTATATAAAATATATTTTTTGTA TATTTTATGTATAT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0260 a0001c0001t0014g0260	1	268	0.0037	42	c.514 others(61): Show c.514-27635_514-27634insTGTGTGTGTGTGTGAGAGAGAGAGAG AGAGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	268	0.0037	42	c.514 others(61): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGAGAGAGAGAG AGAGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02300.hp2 HG03017.hp1 others(8): Show HG01981.hp2 HG02300.hp2 HG03017.hp1 HG03041.hp2 HG03654.hp1 NA18954.hp1 NA18966.hp2 NA18989.hp2 NA19060.hp1 NA19063.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0023	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(8): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0100 a0001c0001t0002g0220 a0001c0001t0003g0102 a0001c0001t0023g0006	11	268	0.0410	42	c.514 others(61): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	268	0.0037	42	c.514 others(61): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGTGTGAGAG AGAGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	268	0.0037	42	c.514 others(61): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGTGTGTGAG AGAGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB2_chr11_17271739_17337211	17288882	T T	TACACACA others(35): Show TACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02055.hp2 NA18979.hp1 HG01433.hp1 HG02055.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0189 a0001c0001t0002g0206 a0001c0001t0006g0161 a0001c0001t0002g0189 a0001c0001t0002g0206 a0001c0001t0006g0161	3	360	0.0083	42	c.-1+ others(57): Show c.-1+5967_-1+6008dupCACACACACACACACACACACACACACACA CACACACACACA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDCD1_chr8_109235919_109339087	109311556	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG02280.hp2 HG02647.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0172 a0005c0005t0007g0201 a0005c0005t0007g0172 a0005c0005t0007g0201	2	360	0.0056	42	c.273 others(61): Show c.273+10752_273+10753insATATATATATATATATATATATATAT ATATATATATATATAT	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03490.hp1 NA18981.hp1 others(1): Show HG01496.hp1 HG03490.hp1 NA18981.hp1 NA19057.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0180 a0003c0003t0003g0181 a0003c0003t0003g0184 others(1): Show a0003c0003t0003g0180 a0003c0003t0003g0181 a0003c0003t0003g0184 a0003c0003t0003g0196	4	360	0.0111	42	c.273 others(61): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATATATATATATA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTGTATAT others(35): Show GTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0219 a0003c0003t0004g0219	1	360	0.0028	42	c.273 others(61): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATATATATATACA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTGTGTAT others(35): Show GTGTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03491.hp2 HG01106.hp1 HG03491.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0141 a0004c0004t0001g0160 a0004c0004t0001g0141 a0004c0004t0001g0160	2	360	0.0056	42	c.273 others(61): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATATATATACACA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTGTGTGT others(35): Show GTGTGTGTATGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0213 a0003c0003t0004g0213	1	360	0.0028	42	c.273 others(61): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATACACATACACACA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDT21_chr16_56424133_56456332	56425420	T T	TCGCTGCC others(35): Show TCGCTGCCGCTGCCGCTGCCGCTGCCGCTGCCGCTGCCGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	414	0.0024	42	c.72 others(53): Show c.7291_*7292insGCAGCGGCAGCGGCAGCGGCAGCGGCAGCGGCAG CGGCAGCG	NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding		3712		chr16	TogoVar
NUDT4_chr12_93372925_93413146	93382674	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0252 a0001c0002t0055g0252	1	414	0.0024	42	c.99+ others(57): Show c.99+4273_99+4274insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUP133_chr1_229435259_229513341	229472707	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03669.hp2 HG00738.hp2 HG03669.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0014 a0002c0002 a0010c0014	a0002c0002t0002 a0010c0014t0002 a0002c0002t0002 a0010c0014t0002	a0002c0002t0002g0216 a0010c0014t0002g0250 a0002c0002t0002g0216 a0010c0014t0002g0250	2	276	0.0073	42	c.185 others(61): Show c.1852-1904_1852-1903insATATATATATATATATATATATATAT ATATATATATATATAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(35): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 NA18977.hp1 NA19002.hp1 HG00323.hp1 NA18977.hp1 NA19002.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0002 a0005c0008t0002 a0001c0001t0002 a0005c0008t0002	a0001c0001t0002g0284 a0001c0001t0002g0287 a0005c0008t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0287 a0005c0008t0002g0281	3	338	0.0089	42	c.38 others(53): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP210L_chr1_153987690_154160073	154140666	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	290	0.0035	42	c.567 others(57): Show c.567-715_567-714insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	4/39			chr1	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(35): Show CCACCACCACCACCACCACCACCACCACCAACAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03927.hp2 HG02559.hp1 HG03927.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0006 a0003c0006t0005 a0003c0006t0006	a0003c0006t0005g0008 a0003c0006t0006g0056 a0003c0006t0005g0008 a0003c0006t0006g0056	2	326	0.0061	42	c.57 others(53): Show c.5713_*5714insTTGTTGTTGTTGTTGGTGGTGGTGGTGGTGGTGG TGGTGGTG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(35): Show CCACCACCACCACCACCACCACCACCACCACCAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01175.hp2 HG03139.hp2 HG01168.hp1 HG01175.hp2 HG03139.hp2	a0006 a0008 a0006 a0008	a0006c0007 a0008c0009 a0006c0007 a0008c0009	a0006c0007t0001 a0008c0009t0001 a0006c0007t0001 a0008c0009t0001	a0006c0007t0001g0010 a0006c0007t0001g0015 a0008c0009t0001g0004 a0006c0007t0001g0010 a0006c0007t0001g0015 a0008c0009t0001g0004	3	326	0.0092	42	c.57 others(53): Show c.5713_*5714insTTGTTGTTGTTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(35): Show CCACCACCACCACCACCACCACCACCACCACCACCACCAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03453.hp1 HG02622.hp1 HG03453.hp1	a0004 a0006 a0004 a0006	a0004c0016 a0006c0010 a0004c0016 a0006c0010	a0004c0016t0005 a0006c0010t0001 a0004c0016t0005 a0006c0010t0001	a0004c0016t0005g0191 a0006c0010t0001g0020 a0004c0016t0005g0191 a0006c0010t0001g0020	2	326	0.0061	42	c.57 others(53): Show c.5713_*5714insTTGTTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		4267		chr3	TogoVar
NUP93_chr16_56725129_56855286	56815865	A A	ACTGCTGC others(35): Show ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01346.hp1 NA18988.hp2 HG01099.hp2 HG01346.hp1 NA18988.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0022 a0001c0004t0005g0030 a0001c0004t0005g0033 a0001c0004t0005g0022 a0001c0004t0005g0030 a0001c0004t0005g0033	3	378	0.0079	42	c.490 others(59): Show c.490-2766_490-2765insCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	342	0.0029	42	c.173 others(61): Show c.1730+1675_1730+1676insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUPR2_chr7_56109681_56121417	56115415	A A	ACACATAT others(35): Show ACACATATGTATATATATATATATATATACGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00597.hp1 others(94): Show HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG01099.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01261.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02300.hp1 HG02723.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG03239.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19004.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(28): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0005g0127	97	448	0.2165	42	c.7- others(55): Show c.7-519_*7-518insCACATATATATACGTATATATATATATATATA TACATATGTG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115415	A A	ACATATGT others(35): Show ACATATGTATATATATATATATATATATACGTATATATATATG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	448	0.0022	42	c.7- others(55): Show c.7-519_*7-518insCATATATATATACGTATATATATATATATATA TATACATATG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115417	A A	ACATATGT others(35): Show ACATATGTATATATATACATATATATGTATATATATACATGTG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	448	0.0022	42	c.7- others(55): Show c.7-521_*7-520insCACATGTATATATATACATATATATGTATATA TATACATATG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115417	A A	ACATATGT others(35): Show ACATATGTATATATATATATATATATACGTATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02615.hp1 others(6): Show HG01891.hp2 HG02486.hp1 HG02615.hp1 HG02647.hp2 HG02886.hp1 HG03017.hp2 HG03471.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0086 a0001c0001t0001g0111 others(4): Show a0001c0001t0001g0032 a0001c0001t0001g0086 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131	9	448	0.0201	42	c.7- others(55): Show c.7-521_*7-520insCACACATATATATACGTATATATATATATATA TATACATATG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115419	A A	ACATATGT others(35): Show ACATATGTATATATATACATATATATGTATATATATACATGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	448	0.0022	42	c.7- others(55): Show c.7-523_*7-522insCACATGTATATATATACATATATATGTATATA TATACATATG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115437	G G	GTATATAT others(35): Show GTATATATATATATGTGTATATATATATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18953.hp2 HG00609.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	2	448	0.0045	42	c.7- others(55): Show c.7-541_*7-540insTATATATATATACACATATATATATACACATA TATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115625	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02055.hp1 HG02723.hp2 others(7): Show HG01978.hp1 HG02055.hp1 HG02723.hp2 HG03225.hp1 HG03471.hp1 NA18949.hp1 NA18980.hp1 NA18992.hp1 NA19063.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0121 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123	10	448	0.0223	42	c.6+ others(55): Show c.6+389_*6+390insTATATATATATATATATATATATATATATATA TATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NVL_chr1_224222345_224335172	224268723	A A	ATCTTGGC others(35): Show ATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCAATT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	284	0.0035	42	c.208 others(59): Show c.2083-632_2083-591dupAATTGCTTGAACCTGGGAGATGGAGGTT GCAGTGAGCCAAGA	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding	17/22			chr1	TogoVar
NVL_chr1_224222345_224335172	224276911	T T	TTGACACA others(35): Show TTGACACATAAAACTAGTTTTATGACACATAAAACTAGTTTTA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0250 a0001c0002t0002g0250	1	284	0.0035	42	c.196 others(61): Show c.1963-1495_1963-1454dupTAAAACTAGTTTTATGTGTCATAAAA CTAGTTTTATGTGTCA	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding	16/22			chr1	TogoVar
NWD1_chr19_16714847_16822953	16777215	G G	GGGGAAAG others(35): Show GGGGAAAGGGAAGGGGAGGGGAGGGAAGGGGAGGGAAGGGGAA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	300	0.0033	42	c.260 others(61): Show c.2609-2118_2609-2077dupAAGGGGAGGGGAGGGAAGGGGAGGGA AGGGGAAGGGAAAGGG	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	408	0.0025	42	c.25 others(53): Show c.2531_*2532insAAAAAAAAAAAAAATATATATATATATATATATA TATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXN_chr17_794310_984776	949287	T T	TCCTCTCC others(35): Show TCCTCTCCCCTGCTCCTCCTCTCCCCTGCCTCCTCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	242	0.0041	42	c.360 others(61): Show c.360+30031_360+30032insGGGGGGGGGAGGAGGCAGGGGAGAGG AGGAGCAGGGGAGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 NA18943.hp1 NA19010.hp1 HG01243.hp2 NA18943.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0002g0212 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0002g0212	3	242	0.0124	42	c.-39 others(53): Show c.-3934_-3933insGTGTGTGTGTATATATATATATATATATATATAT ATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG03704.hp1 HG00544.hp2 HG00597.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0219 a0001c0001t0002g0026 a0001c0001t0002g0214 a0001c0001t0001g0219 a0001c0001t0002g0026 a0001c0001t0002g0214	3	242	0.0124	42	c.-39 others(53): Show c.-3934_-3933insGTGTGTGTATATATATATATATATATATATATAT ATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AAAATATA others(35): Show AAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18949.hp1 HG02074.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0026 a0001c0001t0001g0040	2	192	0.0104	42	c.161 others(61): Show c.1618+6482_1618+6483insAATATATATATATATATATATATATA TATATATATATATATA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp1 HG03098.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0039 a0001c0006t0020 a0001c0001t0039 a0001c0006t0020	a0001c0001t0039g0120 a0001c0006t0020g0018 a0001c0001t0039g0120 a0001c0006t0020g0018	2	192	0.0104	42	c.161 others(61): Show c.1618+6507_1618+6508insATATATATATATATATATATATATAT ATATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG01256.hp2 others(15): Show HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01981.hp2 HG02083.hp2 HG02165.hp2 HG02300.hp1 HG02451.hp1 HG02896.hp1 HG03239.hp1 HG03453.hp1 HG03669.hp2 NA18947.hp2 NA18977.hp2 NA18988.hp1 NA18992.hp1 NA19062.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0003c0011	a0001c0001t0017 a0001c0001t0026 a0001c0002t0001 others(6): Show a0001c0001t0017 a0001c0001t0026 a0001c0002t0001 a0001c0002t0013 a0001c0003t0003 a0001c0004t0002 a0001c0004t0028 a0001c0009t0002 a0003c0011t0016	a0001c0001t0017g0021 a0001c0001t0026g0187 a0001c0002t0001g0035 others(15): Show a0001c0001t0017g0021 a0001c0001t0026g0187 a0001c0002t0001g0035 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0013g0175 a0001c0002t0013g0177 a0001c0003t0003g0049 a0001c0003t0003g0089 a0001c0004t0002g0139 a0001c0004t0002g0155 a0001c0004t0002g0166 a0001c0004t0028g0162 a0001c0009t0002g0149 a0003c0011t0016g0167	18	192	0.0938	42	c.161 others(63): Show c.1618+14495_1618+14496insATATATATATATATATATATATAT ATATATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0006 a0001c0033t0006	a0001c0033t0006g0022 a0001c0033t0006g0022	1	110	0.0091	42	c.243 others(63): Show c.2432+20356_2432+20357insTATATATATATATATATATATATA TAGAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0016 a0016	a0016c0041 a0016c0041	a0016c0041t0001 a0016c0041t0001	a0016c0041t0001g0079 a0016c0041t0001g0079	1	110	0.0091	42	c.243 others(63): Show c.2432+20356_2432+20357insTATATATATATATATATATATAGA GAGAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0070 a0003c0013t0001g0070	1	110	0.0091	42	c.243 others(63): Show c.2432+20356_2432+20357insTATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0032 a0001c0019t0002g0032	1	110	0.0091	42	c.243 others(63): Show c.2432+20356_2432+20357insTATATATATAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCEL1_chr19_17221226_17234219	17225440	C C	CCTCTCTC others(35): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0002 a0002c0015t0001g0002	1	444	0.0023	42	c.-80 others(51): Show c.-808_-807insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		785		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0002 a0005c0009t0001g0002	1	444	0.0023	42	c.-78 others(51): Show c.-789_-788insTCTCTCTCTCTCTCTCTATATATATATATATATATA TATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar

Search by Variant

Search

Search Results (Total: 5093 hits)