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 (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NKX1-1_chr4_1397932_1411442	1398058	G G	GGTAGATC others(38): Show GGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	45	c.48 others(56): Show c.4873_*4874insTCACATCCAGATGCCTGAAAACACCCTGCATCCA ACCTGATCTAC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4873		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398075	G G	GCCGGGTG others(38): Show GCCGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0002 a0002c0002t0000g0002	1	382	0.0026	45	c.48 others(56): Show c.4856_*4857insTATCCAACCTGATCTACTCACATCCAGATGCCCG AAAACACCCGG		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4856		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398122	C C	CGGGTGCT others(38): Show CGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	45	c.48 others(56): Show c.4809_*4810insTGCATCCAACCTGATCTACCCACATCCAGATGCC TGAAAGCACCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4809		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398122	C C	CGGGTGTT others(38): Show CGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA19056.hp1 NA18954.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	2	382	0.0052	45	c.48 others(56): Show c.4809_*4810insTGCATCCAACCTGATCTACCCACATCCAGATGCC CGAAAACACCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4809		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398128	T T	TTTTCGGG others(38): Show TTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	45	c.48 others(56): Show c.4803_*4804insGCACCCTGCATCCAACCTGATCTACTCACATCCA GATGCCCGAAA		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4803		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398133	G G	GGGCATCT others(38): Show GGGCATCTGGATGTGGGTAGATCAGGTTGGATACAGGGTGTTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	45	c.47 others(56): Show c.4798_*4799insTGAAAACACCCTGTATCCAACCTGATCTACCCAC ATCCAGATGCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4798		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398148	G G	GGTAGATC others(38): Show GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	45	c.47 others(56): Show c.4783_*4784insTCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTAC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4783		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398255	G G	GCCGGGTG others(38): Show GCCGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 NA18906.hp2 HG01884.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0002 a0002c0002t0000g0014 a0002c0002t0000g0002 a0002c0002t0000g0014	2	382	0.0052	45	c.46 others(56): Show c.4676_*4677insTATCCAACCTGATCTACTCACATCCAGATGCCCG AAAACACCCGG		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4676		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398263	T T	TTTTCGGG others(38): Show TTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0000 a0001c0013t0000	a0001c0013t0000g0035 a0001c0013t0000g0035	1	382	0.0026	45	c.46 others(56): Show c.4668_*4669insGCACCCTGCATCCAACCTGATCTACTCACATCCA GATGCCCGAAA		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4668		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398268	G G	GGGCATCT others(38): Show GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	45	c.46 others(56): Show c.4663_*4664insTGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4663		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398283	A A	AGTAGATC others(38): Show AGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0005 a0001c0001t0000g0005	1	382	0.0026	45	c.46 others(56): Show c.4648_*4649insCCACATCCAGATGCCTGAAAACACCCTGCATCCA ACCTGATCTAC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4648		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398302	C C	AGGGTGTT others(38): Show AGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	45	c.46 others(56): Show c.4630_*4631insGCATCCAACCTGATCTACCCACATCCAGATGCCC GAAAACACCCT		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4630		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398403	G G	GGGCATCT others(38): Show GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0005 a0001c0001t0000g0005	1	382	0.0026	45	c.45 others(56): Show c.4528_*4529insTGAAAACACCCTGCATCCAACCTGATCTACTCAC ATCCAGATGCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4528		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398448	G G	GGGCATCT others(38): Show GGGCATCTGGATGTGGGTAGATCAGGTTGGATACAGGGTGCTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01943.hp2 HG02273.hp2 others(2): Show HG01361.hp2 HG01943.hp2 HG02273.hp2 HG02630.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0000 a0001c0012t0000 a0001c0001t0000 a0001c0012t0000	a0001c0001t0000g0001 a0001c0012t0000g0032 a0001c0001t0000g0001 a0001c0012t0000g0032	5	382	0.0131	45	c.44 others(56): Show c.4483_*4484insTGAAAGCACCCTGTATCCAACCTGATCTACCCAC ATCCAGATGCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4483		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398448	G G	GGGCATCT others(38): Show GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA19056.hp1 NA18954.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	2	382	0.0052	45	c.44 others(56): Show c.4483_*4484insTGAAAGCACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4483		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398463	G G	GGTAGATC others(38): Show GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG01069.hp1 others(17): Show HG00544.hp1 HG00673.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01243.hp1 HG02129.hp2 HG02257.hp1 HG02683.hp1 HG02723.hp1 HG02886.hp1 HG03130.hp1 HG03471.hp2 NA18939.hp1 NA18959.hp2 NA18973.hp1 NA18999.hp1 NA19070.hp1 NA19077.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	20	382	0.0524	45	c.44 others(56): Show c.4468_*4469insTCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTAC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4468		chr4	TogoVar
NKX2-6_chr8_23696740_23711756	23708481	C C	CCTTCTTC others(38): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03669.hp2 NA18986.hp1 others(2): Show HG03239.hp1 HG03669.hp2 NA18986.hp1 NA19086.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0004g0004 a0001c0002t0004g0005	5	434	0.0115	45	c.-18 others(56): Show c.-1884_-1883insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAG		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1726		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708574	T T	TCTTCTTC others(38): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01243.hp2 HG01361.hp2 others(2): Show HG00323.hp2 HG01243.hp2 HG01361.hp2 NA18948.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0014 a0001c0002t0004 a0001c0002t0014	a0001c0002t0004g0004 a0001c0002t0014g0032 a0001c0002t0004g0004 a0001c0002t0014g0032	5	434	0.0115	45	c.-19 others(56): Show c.-1977_-1976insGAGGAGGAGGAGGAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAG		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1819		chr8	TogoVar
NLGN4X_chrX_5885042_6233867	6049227	A A	AAGGGGAA others(38): Show AAGGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19067.hp1 NA19065.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0022 a0001c0001t0001g0023	2	128	0.0156	45	c.473 others(64): Show c.473-19796_473-19795insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCTTCCCCT		NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5						chrX	TogoVar
NLGN4X_chrX_5885042_6233867	6049227	A A	AAGGGGAG others(38): Show AAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18944.hp1 NA19062.hp1 HG02027.hp1 NA18944.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0067 a0001c0002t0003g0093 a0001c0002t0003g0126 a0001c0002t0003g0067 a0001c0002t0003g0093 a0001c0002t0003g0126	3	128	0.0234	45	c.473 others(64): Show c.473-19840_473-19796dupCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCT		NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5						chrX	TogoVar
NLRP13_chr19_55890945_55937336	55930874	T T	TTTATATA others(38): Show TTTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0280 a0001c0002t0001g0280	1	440	0.0023	45	c.319 others(62): Show c.319+1118_319+1119insTATATATATATATATATATATATATATA TATATATATATATATAA		NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10						chr19	TogoVar
NLRP5_chr19_55994726_56066810	56005468	C C	CATTTATA others(38): Show CATTTATACACACACACACGCAGGTGGCATGCCTATACACACATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp1 HG01981.hp1 others(17): Show HG00423.hp2 HG00741.hp1 HG01981.hp1 HG02572.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03704.hp2 NA18940.hp2 NA18947.hp1 NA18954.hp1 NA18960.hp2 NA18964.hp2 NA18980.hp1 NA18988.hp1 NA19004.hp1 NA19011.hp1 NA19054.hp2 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0011 a0012 a0014 a0017 a0029 a0044	a0001c0001 a0002c0041 a0003c0051 others(13): Show a0001c0001 a0002c0041 a0003c0051 a0003c0126 a0004c0125 a0006c0005 a0007c0032 a0008c0104 a0008c0105 a0010c0016 a0011c0033 a0012c0106 a0014c0100 a0017c0099 a0029c0103 a0044c0107	a0001c0001t0001 a0002c0041t0002 a0003c0051t0001 others(13): Show a0001c0001t0001 a0002c0041t0002 a0003c0051t0001 a0003c0126t0001 a0004c0125t0001 a0006c0005t0002 a0007c0032t0001 a0008c0104t0001 a0008c0105t0001 a0010c0016t0001 a0011c0033t0001 a0012c0106t0002 a0014c0100t0002 a0017c0099t0001 a0029c0103t0001 a0044c0107t0001	a0001c0001t0001g0253 a0002c0041t0002g0358 a0003c0051t0001g0252 others(17): Show a0001c0001t0001g0253 a0002c0041t0002g0358 a0003c0051t0001g0252 a0003c0126t0001g0012 a0004c0125t0001g0013 a0006c0005t0002g0308 a0006c0005t0002g0369 a0007c0032t0001g0254 a0008c0104t0001g0374 a0008c0105t0001g0372 a0010c0016t0001g0364 a0010c0016t0001g0366 a0010c0016t0001g0375 a0011c0033t0001g0370 a0011c0033t0001g0376 a0012c0106t0002g0371 a0014c0100t0002g0368 a0017c0099t0001g0367 a0029c0103t0001g0373 a0044c0107t0001g0344	20	396	0.0505	45	c.442 others(62): Show c.442+1375_442+1376insTTATACACACACACACGCAGGTGGCATG CCTATACACACATATAT		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRX1_chr11_119163725_119189016	119167372	G G	GAGGTTTC others(38): Show GAGGTTTCACCACGTTGCCTAGGTTGGTCGTGAACTTCTGAGCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	398	0.0025	45	c.-19 others(56): Show c.-1979_-1978insAGGTTTCACCACGTTGCCTAGGTTGGTCGTGAAC TTCTGAGCTCA		NLRX1	ENSG00000160703.17	transcript	ENST00000409109.6	protein_coding					1352		chr11	TogoVar
NME8_chr7_37843597_37905397	37847220	A A	AAGAAGAA others(38): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0132 a0003c0003t0001g0132	1	388	0.0026	45	c.-17 others(56): Show c.-1749_-1748insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGGAGACGG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1376		chr7	TogoVar
NME8_chr7_37843597_37905397	37847953	G G	GGAAGAAG others(38): Show GGAAGAAGAAGAAGAGGAAGAGGAAGAAGAGGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0324 a0003c0003t0002g0324	1	388	0.0026	45	c.-10 others(56): Show c.-1016_-1015insGAAGAAGAAGAAGAGGAAGAGGAAGAAGAGGAAG AAGAAGAAGAA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					643		chr7	TogoVar
NMNAT3_chr3_139555191_139682972	139593582	G G	GTAAAATA others(38): Show GTAAAATAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02040.hp2 HG02015.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0218 a0001c0001t0001g0150 a0001c0001t0001g0218	2	322	0.0062	45	c.110 others(64): Show c.110-14572_110-14528dupGCACTGTGGTCTGAGAGATAGTTTGT TATAATTTCTGTTATTTTA		NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	4/6						chr3	TogoVar
NMRK2_chr19_3928069_3947416	3937581	G G	GCTCCCCC others(38): Show GCTCCCCCTCCACTATCCCCCGGGGTCCGCCCTCCTGCAATGCCCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02976.hp1 HG00735.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0097 a0001c0001t0001g0098	2	404	0.0050	45	c.166 others(60): Show c.166+308_166+309insCCCCCGGGGTCCGCCCTCCTGCAATGCCCA CTCCCCCTCCACTAT		NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
NMRK2_chr19_3928069_3947416	3938343	A A	ACCCTCCT others(38): Show ACCCTCCTGCAATACCTGCTCCCCGTCCACTATCCCCCAGGGTCCG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	404	0.0025	45	c.167 others(60): Show c.167-247_167-203dupACCTGCTCCCCGTCCACTATCCCCCAGGGT CCGCCCTCCTGCAAT		NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
NOC4L_chr12_132139457_132157468	132149100	A A	ACCCCTAA others(38): Show ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	294	0.0034	45	c.901 others(60): Show c.901+237_901+238insGCTCACACCACACCCCCTAATCCCCTCGGT GAGTGCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149270	C C	CACCGACA others(38): Show CACCGACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	294	0.0034	45	c.901 others(60): Show c.901+378_901+379insGACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCCTACC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150145	C C	CCACCACA others(38): Show CCACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0179 a0001c0003t0001g0179	1	294	0.0034	45	c.902 others(60): Show c.902-836_902-835insCACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCCT		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14						chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150352	G G	GCCGCCTC others(38): Show GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0043 a0003c0043	a0003c0043t0001 a0003c0043t0001	a0003c0043t0001g0253 a0003c0043t0001g0253	1	294	0.0034	45	c.902 others(60): Show c.902-627_902-583dupCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150580	G G	GCTCACAC others(38): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	294	0.0034	45	c.902 others(60): Show c.902-397_902-396insCACCACACCCCTAATCCCCTCGGTGAGTTG CCGCCGCCTCACTCA		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150679	A A	ACCCCTAA others(38): Show ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	294	0.0034	45	c.902 others(60): Show c.902-270_902-269insACTCACACCACACCCCCTAATCCCCTCGGT GAGTGCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150703	C C	CGCCGCCT others(38): Show CGCCGCCTCGCTCACACCACACCCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0023	1	294	0.0034	45	c.902 others(60): Show c.902-254_902-253insCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCACACCACACCCC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAAAATAT others(38): Show AAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	168	0.0060	45	c.773 others(62): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATATATATATATATTTT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAATATAT others(38): Show AAATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	168	0.0060	45	c.773 others(62): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATATATATATATATATT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOS1AP_chr1_162064691_162375475	162261539	A A	AGAGAGAG others(38): Show AGAGAGAGAGAGAAGAGAGGAGAGAGAGAGAGAAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01175.hp2 HG01517.hp1 others(6): Show HG01169.hp1 HG01175.hp2 HG01517.hp1 HG02135.hp2 HG02683.hp1 HG02809.hp2 NA18994.hp1 NA18994.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 a0001c0004t0003	a0001c0001t0002g0009 a0001c0001t0002g0036 a0001c0001t0002g0140 others(6): Show a0001c0001t0002g0009 a0001c0001t0002g0036 a0001c0001t0002g0140 a0001c0001t0002g0161 a0001c0002t0001g0025 a0001c0002t0001g0052 a0001c0002t0001g0135 a0001c0002t0006g0092 a0001c0004t0003g0046	9	182	0.0495	45	c.178 others(64): Show c.178-25798_178-25797insAGAGAAGAGAGGAGAGAGAGAGAGAA GAGAGAAGAGAGGAGAGAG		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264463	C C	CTCTTCTC others(38): Show CTCTTCTCTTCTCTTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19030.hp2 HG02922.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0091 a0001c0003t0003g0173 a0001c0003t0003g0091 a0001c0003t0003g0173	2	182	0.0110	45	c.178 others(64): Show c.178-22879_178-22878insTTCTCTTCTCTTCTCCTCTCCTCTCC TCTCCTCCCCTCCCCTGTC		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264464	T T	TCTTCTCT others(38): Show TCTTCTCTTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0090 a0001c0003t0010g0090	1	182	0.0055	45	c.178 others(64): Show c.178-22879_178-22878insTTCTCTTCTCCTCTCCTCTCCTCTCC TCTCCTCCCCTCCCCTCCC		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264468	C C	CTCCTCTC others(38): Show CTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG06807.hp1 others(1): Show HG02109.hp2 HG02717.hp1 HG06807.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0012 a0001c0007t0008 a0001c0001t0002 a0001c0001t0012 a0001c0007t0008	a0001c0001t0002g0160 a0001c0001t0012g0170 a0001c0001t0012g0174 others(1): Show a0001c0001t0002g0160 a0001c0001t0012g0170 a0001c0001t0012g0174 a0001c0007t0008g0075	4	182	0.0220	45	c.178 others(64): Show c.178-22876_178-22875insTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCCCCTCCCCTG		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9						chr1	TogoVar
NOTCH1_chr9_136489433_136551048	136535719	G G	GGTGGAGG others(38): Show GGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0280 a0001c0003t0001g0280	1	324	0.0031	45	c.140 others(62): Show c.140+8304_140+8305insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCTCCAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535719	G G	GGTGGGGG others(38): Show GGTGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0127 a0001c0028t0002g0127	1	324	0.0031	45	c.140 others(62): Show c.140+8304_140+8305insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCCAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535880	G G	GGTGGGGG others(38): Show GGTGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0016 a0001c0025t0016	a0001c0025t0016g0169 a0001c0025t0016g0169	1	324	0.0031	45	c.140 others(62): Show c.140+8143_140+8144insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCCAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH2NLA_chr1_146143865_146234021	146200438	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0028 a0003c0002t0028	a0003c0002t0028g0029 a0003c0002t0028g0029	1	60	0.0167	45	c.-44 others(64): Show c.-44-11058_-44-11057insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTT		NOTCH2NLA	ENSG00000264343.7	transcript	ENST00000362074.8	protein_coding	1/4						chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(38): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01516.hp1 HG02083.hp1 HG02523.hp2 others(1): Show HG01516.hp1 HG02083.hp1 HG02523.hp2 HG04204.hp1	a0019 a0019	a0019c0016 a0019c0016	a0019c0016t0001 a0019c0016t0003 a0019c0016t0001 a0019c0016t0003	a0019c0016t0001g0149 a0019c0016t0001g0231 a0019c0016t0003g0101 others(1): Show a0019c0016t0001g0149 a0019c0016t0001g0231 a0019c0016t0003g0101 a0019c0016t0003g0158	4	260	0.0154	45	c.44_ others(50): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGG	p.Gly others(56): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTUM_chr17_81947507_81966187	81958995	C C	CTCTTGGG others(38): Show CTCTTGGGATGTCACTAGAGGTGTAGCTTCTAGGACAGGATCTGTG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0045	1	384	0.0026	45	c.473 others(54): Show c.473-1_473insCACAGATCCTGTCCTAGAAGCTACACCTCTAGTGAC ATCCCAAGA		NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding	3/10						chr17	TogoVar
NOX5_chr15_69009695_69067762	69045536	T T	TCTTTCTT others(38): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0087 a0003c0004t0004g0087	1	396	0.0025	45	c.164 others(64): Show c.1648-1286_1648-1285insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTC		NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15						chr15	TogoVar
NOX5_chr15_69009695_69067762	69045552	C C	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0069	1	396	0.0025	45	c.164 others(64): Show c.1648-1252_1648-1251insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTTCTTTCTTTCTTTCTT		NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr15	TogoVar
NPAS2_chr2_100815139_101001829	100938569	C C	CCCCCCCT others(38): Show CCCCCCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0088 a0001c0004t0002g0088	1	288	0.0035	45	c.363 others(60): Show c.363+732_363+733insCTTTCCTCCCTCCCTCCCTCCCTCCCTCCT TCCCTCCCTTCCCCC		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	5/20					INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 2640 hits)