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
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0004 a0007c0028t0004	a0007c0028t0004g0002 a0007c0028t0004g0002	1	208	0.0048	27	c.517 others(44): Show c.517+2357_517+2358insAAAAAAAAAAAAATATATATATATATA	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATTT others(20): Show ATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0168 a0011c0020t0001g0168	1	208	0.0048	27	c.517 others(44): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAAAAAAAATATA	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29			chr1	TogoVar
NPIPA8_chr16_18312919_18341736	18341156	A A	AAAGGGAG others(20): Show AAAGGGAGGGGAAGGGGATAAGGGGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	40	0.0250	27	c.-48 others(38): Show c.-4850_-4849insATCCCCCTTATCCCCTTCCCCTCCCTT	NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding		4421		chr16	TogoVar
NPIPA8_chr16_18312919_18341736	18341156	A A	AAGGGAGG others(20): Show AAGGGAGGGGAAGGGGGATAAGGGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	40	0.0250	27	c.-48 others(38): Show c.-4850_-4849insATCTCCCTTATCCCCCTTCCCCTCCCT	NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding		4421		chr16	TogoVar
NPIPA8_chr16_18312919_18341736	18341170	G G	GGGATAAG others(20): Show GGGATAAGGGGGATAAGGGAGGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0027 a0002c0004t0001g0027	1	40	0.0250	27	c.-48 others(38): Show c.-4864_-4863insTCCTTCCCTCCCTTATCCCCCTTATCC	NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding		4435		chr16	TogoVar
NPIPA8_chr16_18312919_18341736	18341179	G G	GGGAAAGG others(20): Show GGGAAAGGGAGGGGAAGGGGGATAAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	1	40	0.0250	27	c.-48 others(38): Show c.-4873_-4872insGCCTTATCCCCCTTCCCCTCCCTTTCC	NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding		4444		chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28646202	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0306 a0002c0003t0002g0306	1	351	0.0029	27	c.121 others(44): Show c.121-1907_121-1906insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28659954	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0024 a0024	a0024c0046 a0024c0046	a0024c0046t0008 a0024c0046t0008	a0024c0046t0008g0061 a0024c0046t0008g0061	1	351	0.0029	27	c.13 others(38): Show c.1324_*1325insTTTTTTTTTTTTTTTTTTTTTTTTTAA	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding		1211		chr16	TogoVar
NPRL3_chr16_80386_143673	103296	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0332	1	350	0.0029	27	c.630 others(44): Show c.630-2814_630-2788dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	7/13			chr16	TogoVar
NPSR1_chr7_34653218_34854978	34823399	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0005 a0009c0013t0005	a0009c0013t0005g0117 a0009c0013t0005g0117	1	260	0.0039	27	c.479 others(44): Show c.479-3985_479-3984insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NR2C1_chr12_95015229_95078618	95043689	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp1 HG01099.hp2 others(3): Show HG00323.hp1 HG01081.hp1 HG01099.hp2 HG01884.hp2 HG01978.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0001 a0001c0001t0003 a0001c0001t0019	a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0039 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0003g0389 a0001c0001t0003g0392 a0001c0001t0019g0034	6	430	0.0140	27	c.113 others(46): Show c.1132-3093_1132-3092insTTTTTTTTTTTTTTTTTTTTTTTTTT T	NR2C1	ENSG00000120798.17	transcript	ENST00000333003.10	protein_coding	9/13			chr12	TogoVar
NR2F1_chr5_93578222_93599611	93581729	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	294	0.0034	27	c.-32 others(38): Show c.-3295_-3294insCTCTCTCTCTCTCTCTCTCTCTCTCCC	NR2F1	ENSG00000175745.15	transcript	ENST00000327111.8	protein_coding		1492		chr5	TogoVar
NR3C2_chr4_148073764_148447414	148220960	T T	TGAGGCCC others(20): Show TGAGGCCCTTGCCATCACATGCTAAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG02109.hp2 HG02976.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0010 a0004c0005t0004 a0001c0001t0010 a0004c0005t0004	a0001c0001t0010g0023 a0004c0005t0004g0016 a0001c0001t0010g0023 a0004c0005t0004g0016	2	170	0.0118	27	c.189 others(48): Show c.1898-26125_1898-26099dupCTCTTAGCATGTGATGGCAAGGGC CTC	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	3/8			chr4	TogoVar
NR3C2_chr4_148073764_148447414	148363504	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03831.hp1 NA18948.hp2 HG00544.hp2 HG03831.hp1 NA18948.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0003c0004t0001 a0001c0001t0002 a0001c0001t0003 a0003c0004t0001	a0001c0001t0002g0051 a0001c0001t0003g0115 a0003c0004t0001g0059 a0001c0001t0002g0051 a0001c0001t0003g0115 a0003c0004t0001g0059	3	170	0.0177	27	c.175 others(48): Show c.1757+71599_1757+71600insAAAAAAAAAAAAAAAAAAAAAAAA AAA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NR5A2_chr1_200022710_200182415	200074736	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	286	0.0035	27	c.111 others(48): Show c.1110+25938_1110+25939insAAAAAAAAAAAAAAAAAAAAAAAA AAA	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	384	0.0026	27	c.64 others(38): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAAATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	384	0.0026	27	c.64 others(38): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	384	0.0026	27	c.64 others(38): Show c.6499_*6500insAAAAAAAAAAAAAAAATATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAATATATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	384	0.0026	27	c.64 others(38): Show c.6499_*6500insAAAAAAAAAAAAAAATATATATATAAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 NA20300.hp2 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0145 a0001c0001t0002g0146	2	384	0.0052	27	c.64 others(38): Show c.6499_*6500insAAAAAAAAAAAAAATATATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRG1_chr8_32543311_32779046	32634099	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG06807.hp2 NA19085.hp2 HG02897.hp1 HG06807.hp2 NA19085.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0008 a0003c0003 a0008c0008	a0003c0003t0131 a0008c0008t0004 a0003c0003t0131 a0008c0008t0004	a0003c0003t0131g0215 a0008c0008t0004g0122 a0008c0008t0004g0123 a0003c0003t0131g0215 a0008c0008t0004g0122 a0008c0008t0004g0123	3	244	0.0123	27	c.502 others(46): Show c.502+17233_502+17234insAAAAAAAAAAAAAAAAAAAAAAAAAA A	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRG2_chr5_139841781_140048299	140029687	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0117 a0001c0014t0001g0117	1	188	0.0053	27	c.700 others(46): Show c.700+12682_700+12683insTTTTTTTTTTTTTTTTTTTTTTTTTT T	NRG2	ENSG00000158458.21	transcript	ENST00000361474.6	protein_coding	1/9			chr5	TogoVar
NRG3_chr10_81870194_82992178	82050798	T T	TACTCTCT others(20): Show TACTCTCTGTCTCTCCAGCCATGCCTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00639.hp2 others(9): Show HG00280.hp2 HG00438.hp1 HG00639.hp2 HG01071.hp1 HG01952.hp2 HG02055.hp2 HG02622.hp2 HG03017.hp2 HG04204.hp1 NA18942.hp1 NA19079.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0006 a0002c0003t0004	a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 others(9): Show a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0003g0054 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0006g0042 a0002c0003t0004g0047 a0002c0003t0004g0061	12	66	0.1818	27	c.823 others(48): Show c.823+174639_823+174665dupCTCTGTCTCTCCAGCCATGCCTCC ACT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRG3_chr10_81870194_82992178	82362546	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0019 a0002c0003t0004g0019	1	66	0.0152	27	c.953 others(44): Show c.953+3678_953+3679insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8			chr10	TogoVar
NRIP2_chr12_2820348_2840035	2835190	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGGTGTGTGTGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	1	422	0.0024	27	c.-20 others(36): Show c.-208_-207insTCTCACACACACCACACACACACACAC	NRIP2	ENSG00000053702.15	transcript	ENST00000337508.9	protein_coding		156		chr12	TogoVar
NRP1_chr10_33172493_33339667	33199389	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0014 a0001c0005t0003g0014	1	262	0.0038	27	c.186 others(46): Show c.1865-1681_1865-1680insATATATATATATATATATATATATAT A	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	11/16			chr10	TogoVar
NRP1_chr10_33172493_33339667	33199389	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0242 a0001c0008t0003g0242	1	262	0.0038	27	c.186 others(46): Show c.1865-1681_1865-1680insAAAAATATATATATATATATATATAT A	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	11/16			chr10	TogoVar
NRSN1_chr6_24121215_24152530	24126152	A A	AGGCGGCG others(20): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02109.hp1 others(9): Show HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02615.hp1 HG02615.hp2 HG03195.hp2 HG03453.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0029 a0001c0001t0044	a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(9): Show a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0003g0084 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0150 a0001c0001t0005g0191 a0001c0001t0029g0120 a0001c0001t0044g0115	12	406	0.0296	27	c.-27 others(36): Show c.-271_-270insGGCGGCGGCGGCGGCGGCGGCGGCGGC	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		62		chr6	TogoVar
NRXN1_chr2_49913503_51037132	50296518	C C	CTATTAGT others(20): Show CTATTAGTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0065 a0001c0001t0017g0065	1	116	0.0086	27	c.336 others(48): Show c.3365-59549_3365-59548insATAATAATAATAATAATAATACTA ATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50334192	A A	AATTTTAT others(20): Show AATTTTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0049 a0001c0001t0056g0049	1	116	0.0086	27	c.336 others(48): Show c.3365-97223_3365-97222insATATATATATATATATATATATAA AAT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAGG others(20): Show AAAGAAGGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01517.hp1 NA19012.hp2 HG01175.hp1 HG01517.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0028 a0001c0004t0007 a0001c0001t0001 a0001c0001t0028 a0001c0004t0007	a0001c0001t0001g0055 a0001c0001t0028g0008 a0001c0004t0007g0093 a0001c0001t0001g0055 a0001c0001t0028g0008 a0001c0004t0007g0093	3	116	0.0259	27	c.336 others(48): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCCTT CTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAGGAAAG others(20): Show AAGGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18950.hp1 HG01099.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0009 a0001c0005t0030 a0001c0001t0009 a0001c0005t0030	a0001c0001t0009g0051 a0001c0005t0030g0016 a0001c0001t0009g0051 a0001c0005t0030g0016	2	116	0.0172	27	c.336 others(48): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCTTT CCT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50424295	A A	AAGGAGGA others(20): Show AAGGAGGAGGAGGAGGAGGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(11): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG01169.hp1 HG01169.hp2 HG01433.hp1 HG02027.hp1 HG02027.hp2 HG02132.hp2 HG03195.hp2 NA18941.hp1 NA18950.hp1 NA18975.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0004 a0001c0001t0011 a0001c0001t0017 others(10): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0001t0046 a0001c0002t0007 a0001c0003t0002 a0001c0004t0007 a0001c0005t0030	a0001c0001t0004g0017 a0001c0001t0011g0069 a0001c0001t0017g0065 others(11): Show a0001c0001t0004g0017 a0001c0001t0011g0069 a0001c0001t0017g0065 a0001c0001t0019g0072 a0001c0001t0020g0073 a0001c0001t0024g0014 a0001c0001t0025g0012 a0001c0001t0029g0018 a0001c0001t0046g0039 a0001c0002t0007g0089 a0001c0003t0002g0024 a0001c0004t0007g0090 a0001c0004t0007g0093 a0001c0005t0030g0016	14	116	0.1207	27	c.336 others(48): Show c.3364+41146_3364+41147insCCTCCCCCTCCTCCTCCTCCTCCT CCT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	79508390	A A	ATTTCTGA others(20): Show ATTTCTGATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19043.hp2 HG01081.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0005 a0002c0005t0005 a0001c0004t0005 a0002c0005t0005	a0001c0004t0005g0003 a0002c0005t0005g0002 a0001c0004t0005g0003 a0002c0005t0005g0002	2	24	0.0833	27	c.344 others(48): Show c.3444+40991_3444+40992insCTGATTTTTTTTTTTTTTTTTTTT TTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79508390	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03453.hp1 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0015 a0001c0002t0011 a0001c0002t0015	a0001c0002t0011g0016 a0001c0002t0015g0011 a0001c0002t0011g0016 a0001c0002t0015g0011	2	24	0.0833	27	c.344 others(48): Show c.3444+41004_3444+41005insTTTTTTTTTTTTTTTTTTTTTTTT TTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79565343	G G	GTGTGTGT others(20): Show GTGTGTGTGTATATATATACACACATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03453.hp1 NA19240.hp1 others(1): Show HG01243.hp1 HG03453.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008	a0001c0001t0010 a0001c0002t0011 a0001c0006t0017 others(1): Show a0001c0001t0010 a0001c0002t0011 a0001c0006t0017 a0001c0008t0004	a0001c0001t0010g0006 a0001c0002t0011g0016 a0001c0006t0017g0001 others(1): Show a0001c0001t0010g0006 a0001c0002t0011g0016 a0001c0006t0017g0001 a0001c0008t0004g0014	4	24	0.1667	27	c.344 others(48): Show c.3444+97945_3444+97946insTGTGTATATATATACACACATATT GTG	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79637729	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0009 a0001c0002t0007g0009	1	24	0.0417	27	c.344 others(48): Show c.3445-26031_3445-26030insTTTTTTTTTTTTTTTTTTTTTTTT TTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD1_chr5_177128773_177305213	177158998	T T	TTATATAT others(20): Show TTATATATATATATATATGAATGATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03453.hp2 HG03098.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0050 a0001c0003t0027 a0001c0003t0050	a0001c0003t0027g0119 a0001c0003t0050g0110 a0001c0003t0027g0119 a0001c0003t0050g0110	2	298	0.0067	27	c.927 others(46): Show c.927+22985_927+22986insGAATGATATATATATATATATATATA T	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177159036	T T	TATATATA others(20): Show TATATATATATATATATATATATGAATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0052 a0001c0003t0052	a0001c0003t0052g0129 a0001c0003t0052g0129	1	298	0.0034	27	c.927 others(46): Show c.927+23018_927+23019insATATATATATGAATGATATATATATA T	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177264028	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	298	0.0034	27	c.514 others(46): Show c.5147-3508_5147-3507insTTTTTTTTTTTTTTTTTTTTTTTTTT T	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSG1_chr4_4382102_4424058	4388048	G G	GGCCCCGC others(20): Show GGCCCCGCAGCTGCCCTGCTCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp2 others(79): Show HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp2 HG02293.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG04199.hp1 HG04228.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19063.hp1 NA19067.hp1 NA19068.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(61): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0002g0124 a0001c0001t0003g0098 a0001c0001t0010g0004 a0001c0001t0010g0080 a0001c0001t0010g0087 a0001c0001t0017g0106 a0001c0001t0018g0078 a0001c0001t0021g0086 a0001c0001t0022g0116	82	394	0.2081	27	c.129 others(42): Show c.129+297_129+323dupCAGCTGCCCTGCTCCTCCCTTGCCCCG	NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSG1_chr4_4382102_4424058	4411761	A A	AACACAAC others(20): Show AACACAACACAACACAACACAACACAAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	394	0.0025	27	c.357 others(44): Show c.357+2081_357+2082insCAACACAACACAACACAACACAACACA	NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSG1_chr4_4382102_4424058	4411766	A A	AACACAAC others(20): Show AACACAACACAACACAACACAACACAAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp1 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0240 a0001c0001t0001g0129 a0001c0001t0001g0240	2	394	0.0051	27	c.357 others(44): Show c.357+2086_357+2087insCAACACAACACAACACAACACAACACA	NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSG1_chr4_4382102_4424058	4411771	A A	AACACAAC others(20): Show AACACAACACAACACAACACAACACAAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02129.hp1 HG02622.hp1 others(9): Show HG02055.hp1 HG02129.hp1 HG02622.hp1 HG02630.hp1 HG02818.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp2 HG03579.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0019	a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0045 others(8): Show a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0248 a0001c0001t0004g0263 a0001c0001t0006g0042 a0001c0001t0008g0149 a0001c0001t0019g0048	12	394	0.0305	27	c.357 others(44): Show c.357+2091_357+2092insCAACACAACACAACACAACACAACACA	NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSG2_chr5_174040706_174114179	174041379	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02970.hp1 HG02886.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0259 a0001c0001t0005g0033 a0001c0001t0005g0259	2	294	0.0068	27	c.-44 others(38): Show c.-4487_-4486insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NSG2	ENSG00000170091.11	transcript	ENST00000303177.8	protein_coding		4326		chr5	TogoVar
NSG2_chr5_174040706_174114179	174080554	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	294	0.0034	27	c.213 others(46): Show c.213+16239_213+16240insCTCTCTCTCTCTCTCTCTCTCTCTCT C	NSG2	ENSG00000170091.11	transcript	ENST00000303177.8	protein_coding	3/4			chr5	TogoVar
NSMF_chr9_137442570_137464334	137450860	T T	TTTGATCT others(20): Show TTTGATCTCCCCCCCACACTTCTTCCCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp1 NA19240.hp1 HG03195.hp1 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067	3	414	0.0073	27	c.123 others(44): Show c.1237-606_1237-605insGGGGAAGAAGTGTGGGGGGGAGATCAA	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0184 a0003c0003t0003g0184	1	388	0.0026	27	c.754 others(42): Show c.754-454_754-453insAAAAAAAAAAAAAAAAATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19063.hp2 HG03130.hp2 NA19063.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0007 a0003c0003t0003 a0001c0001t0007 a0003c0003t0003	a0001c0001t0007g0028 a0003c0003t0003g0161 a0001c0001t0007g0028 a0003c0003t0003g0161	2	388	0.0052	27	c.754 others(42): Show c.754-454_754-453insAAAAAAAAAAAAATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp2 NA18941.hp2 others(1): Show HG02486.hp2 HG02922.hp2 NA18941.hp2 NA19065.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0003 a0003c0003t0008 a0004c0004t0013 a0003c0003t0003 a0003c0003t0008 a0004c0004t0013	a0003c0003t0003g0163 a0003c0003t0008g0193 a0004c0004t0013g0330 others(1): Show a0003c0003t0003g0163 a0003c0003t0008g0193 a0004c0004t0013g0330 a0004c0004t0013g0332	4	388	0.0103	27	c.754 others(42): Show c.754-454_754-453insAAAAAAAAAAATATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 7463 hits)