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	cds cds pos length	aa aa pos length	distance	status	chr	external
MYZAP_chr15_57586904_57690364	57688082	TATGTGTG others(40): Show TATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0056 a0002c0002t0002g0056	1	352	0.0028	-47	c.35 others(58): Show c.3585_*3631delATGTGTGTACAATATACACATATATATGTGTGTA CAATATACACATA		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding				2719		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688083	ATGTGTGT others(40): Show ATGTGTGTACAATATACACATATATATGTGTGTACAATATACACATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02145.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0273 a0001c0001t0001g0235 a0001c0001t0001g0273	2	352	0.0057	-47	c.35 others(58): Show c.3586_*3632delTGTGTGTACAATATACACATATATATGTGTGTAC AATATACACATAT		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding				2720		chr15	TogoVar
NCLN_chr19_3180930_3214575	3200348	GTCACCAG others(40): Show GTCACCAGGCTGGAGTGTAGTGGCGAGATCTGGGCTCACTGCAACCTT	G G	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0142 a0001c0009t0003g0142	1	410	0.0024	-47	c.697 others(64): Show c.697-1174_697-1128delTCACCAGGCTGGAGTGTAGTGGCGAGAT CTGGGCTCACTGCAACCTT		NCLN	ENSG00000125912.11	transcript	ENST00000246117.9	protein_coding	5/14					chr19	TogoVar
NCOA6_chr20_34709774_34830651	34817161	ATGTATAT others(40): Show ATGTATATAAATGGGTACTACGGAACTGATATTCAACAGATTCAATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01071.hp2 HG01934.hp2 others(3): Show HG00733.hp1 HG01071.hp2 HG01934.hp2 HG02559.hp1 HG06807.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 others(3): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0013t0001g0156	6	290	0.0207	-47	c.-16 others(66): Show c.-164+8264_-164+8310delATATTGAATCTGTTGAATATCAGTTC CGTAGTACCCATTTATATACA		NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	1/14					chr20	TogoVar
NCOR1_chr17_16024157_16220534	16167033	ATACATTA others(40): Show ATACATTAATATCATTCTCCCACTATATGCATATGAGCAAATTTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0014 a0002c0019t0014	a0002c0019t0014g0179 a0002c0019t0014g0179	1	282	0.0036	-47	c.436 others(64): Show c.436-1919_436-1873delACACAAATTTGCTCATATGCATATAGTG GGAGAATGATATTAATGTA		NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	4/45					chr17	TogoVar
NELL1_chr11_20664586_21580686	20798970	GATAAATA others(40): Show GATAAATACGGACAAAATTAAACCTAATGATAAACGTCATGGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00735.hp2 others(20): Show HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01169.hp1 HG01496.hp1 HG01496.hp2 HG01975.hp1 HG02145.hp1 HG02698.hp1 HG02976.hp1 HG03540.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18906.hp2 NA18964.hp1 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA19240.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0022 a0002c0002 others(5): Show a0001c0001 a0001c0022 a0002c0002 a0002c0003 a0002c0009 a0002c0010 a0005c0012 a0006c0023	a0001c0001t0001 a0001c0022t0001 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0022t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0006 a0002c0009t0001 a0002c0010t0003 a0005c0012t0001 a0006c0023t0001	a0001c0001t0001g0037 a0001c0022t0001g0040 a0002c0002t0001g0010 others(20): Show a0001c0001t0001g0037 a0001c0022t0001g0040 a0002c0002t0001g0010 a0002c0002t0001g0018 a0002c0002t0001g0029 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0073 a0002c0003t0001g0009 a0002c0003t0001g0016 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0060 a0002c0003t0006g0066 a0002c0009t0001g0063 a0002c0009t0001g0069 a0002c0010t0003g0081 a0005c0012t0001g0057 a0006c0023t0001g0058	23	88	0.2614	-47	c.335 others(66): Show c.335+15146_335+15192delTACGGACAAAATTAAACCTAATGATA AACGTCATGGAAGAAAATAAA		NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	3/19				INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20863228	GCCCCCCA others(40): Show GCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCTGGGCGGGGGCTGA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	88	0.0114	-47	c.506 others(66): Show c.506+15496_506+15542delTGGGGCGGCTGGCTGGGCGGGGGCTG ACCCCCCACCTCCCTCCCGGA		NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	4/19				INFO_REALIGN_3_PRIME	chr11	TogoVar
NEU4_chr2_241804193_241822413	241807564	ACCTTCCC others(40): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0011 a0001c0004t0001g0011	1	319	0.0031	-47	c.-17 others(58): Show c.-1713_-1667delCCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCTTCCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding				1628		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807603	ACCTTCCC others(40): Show ACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02165.hp2 NA18906.hp2 others(3): Show HG00280.hp1 HG02165.hp2 NA18906.hp2 NA18940.hp2 NA18971.hp1 NA19057.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0009 a0001c0001 a0002c0003 a0004c0009	a0001c0001t0001 a0002c0003t0002 a0004c0009t0001 a0001c0001t0001 a0002c0003t0002 a0004c0009t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0021 a0002c0003t0002g0029 a0002c0003t0002g0036 a0004c0009t0001g0003	6	319	0.0188	-47	c.-16 others(58): Show c.-1674_-1628delCCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding				1589		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807606	TTCCCTCC others(40): Show TTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	319	0.0031	-47	c.-16 others(58): Show c.-1671_-1625delTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCC		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding				1586		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807845	ACCCTCCC others(40): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0070 a0001c0016t0001g0070	1	319	0.0031	-47	c.-14 others(58): Show c.-1432_-1386delCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCTTCCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding				1347		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807884	ACCTTCCC others(40): Show ACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG01993.hp2 others(5): Show HG00621.hp2 HG00639.hp2 HG01993.hp2 HG02735.hp2 HG06807.hp1 NA18943.hp1 NA18947.hp2 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0002t0001 a0002c0003t0002 a0001c0001t0003 a0001c0002t0001 a0002c0003t0002	a0001c0001t0003g0130 a0001c0002t0001g0002 a0001c0002t0001g0004 others(4): Show a0001c0001t0003g0130 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0015 a0001c0002t0001g0065 a0001c0002t0001g0088 a0002c0003t0002g0133	8	319	0.0251	-47	c.-13 others(58): Show c.-1393_-1347delCCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding				1308		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807887	TTCCCTCC others(40): Show TTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	319	0.0031	-47	c.-13 others(58): Show c.-1390_-1344delTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCC		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding				1305		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807927	ACCCTCCC others(40): Show ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 NA19030.hp1 HG02809.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0003g0128 a0001c0004t0001g0113 a0001c0001t0003g0128 a0001c0004t0001g0113	2	319	0.0063	-47	c.-13 others(58): Show c.-1350_-1304delCCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding				1265		chr2	TogoVar
NFE2L3_chr7_26147198_26192137	26148248	GGGGGGGT others(40): Show GGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0001 a0001c0005t0001g0001	1	400	0.0025	-47	c.-42 others(58): Show c.-4250_-4204delGGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCCT CCGGGAGGGAGCT		NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding				3949		chr7	TogoVar
NFKB2_chr10_102390705_102407524	102397259	GAAAGAAC others(40): Show GAAAGAACTGCATGGCCAAAGGCCTCCGATTCTCTCTTCTCAGATTTA	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18979.hp1 NA18979.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0001 a0010c0008t0001	a0010c0008t0001g0045 a0010c0008t0001g0045	1	424	0.0024	-47	c.396 others(57): Show c.396-41_401delAAGAACTGCATGGCCAAAGGCCTCCGATTCTCTCT TCTCAGATTTAA	p.Gln others(19): Show p.Gln132_Asn134delinsHis	NFKB2	ENSG00000077150.21	transcript	ENST00000661543.1	protein_coding	7/23	396/2703	132/900		INFO_REALIGN_3_PRIME	chr10	TogoVar
NGB_chr14_77260483_77276206	77269667	TTTCTCTC others(40): Show TTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	366	0.0027	-47	c.90- others(60): Show c.90-388_90-342delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAA		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3					chr14	TogoVar
NGB_chr14_77260483_77276206	77269680	CTCTCTCT others(40): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18966.hp2 NA19006.hp1 others(2): Show HG03453.hp2 NA18966.hp2 NA19006.hp1 NA19054.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0165 a0001c0001t0001g0214 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0165 a0001c0001t0001g0214 a0001c0001t0001g0226	5	366	0.0137	-47	c.90- others(60): Show c.90-401_90-355delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGA		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3					chr14	TogoVar
NGB_chr14_77260483_77276206	77269756	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTCTCCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03209.hp2 HG01975.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0076 a0001c0001t0003g0131 a0001c0001t0001g0076 a0001c0001t0003g0131	2	366	0.0055	-47	c.90- others(60): Show c.90-477_90-431delGGGGGGGGGAGAGGGAGAGGGAGAGAGAGAGA GAGAGAGAGAGAGAG		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3					chr14	TogoVar
NGEF_chr2_232873701_233018256	232896899	GGGGTAAG others(40): Show GGGGTAAGGGTAAAGGTAGGGATGAGGTGAGGGTAGGGGTGAGGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0351 a0001c0003t0005g0351	1	362	0.0028	-47	c.829 others(64): Show c.829-2030_829-1984delTCACCCTCACCCCTACCCTCACCTCATC CCTACCTTTACCCTTACCC		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14					chr2	TogoVar
NGF_chr1_115280917_115343249	115282515	ATCTATCT others(40): Show ATCTATCTATCTATCTATCTATCTATCTATCAATCATCTATCTATCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	418	0.0024	-47	c.35 others(58): Show c.3508_*3554delCAGATAGATAGATGATTGATAGATAGATAGATAG ATAGATAGATAGA		NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding				3401		chr1	TogoVar
NLGN1_chr3_173392744_174299372	173894880	ACCCGCCT others(40): Show ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCCCCT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	44	0.0227	-47	c.706 others(66): Show c.706+87050_706+87096delCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCATGAGCCCCCTC		NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6				INFO_REALIGN_3_PRIME	chr3	TogoVar
NMNAT2_chr1_183243237_183423380	183389804	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp1 HG03017.hp2 HG01884.hp2 HG02965.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0042 a0001c0001t0071 a0001c0001t0012 a0001c0001t0042 a0001c0001t0071	a0001c0001t0012g0059 a0001c0001t0042g0058 a0001c0001t0071g0025 a0001c0001t0012g0059 a0001c0001t0042g0058 a0001c0001t0071g0025	3	258	0.0116	-47	c.85+ others(64): Show c.85+28332_85+28378delTTTTTTCCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10					chr1	TogoVar
NMRK2_chr19_3928069_3947416	3937367	TCCCCCGG others(40): Show TCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTC	T T	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	404	0.0025	-47	c.166 others(61): Show c.166+84_166+130delCGGGGTCCGCCCTCCTGCAATGCCCGCTCCC CCTCCACTATTCCCCC		NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr19	TogoVar
NMRK2_chr19_3928069_3947416	3937459	TCCCCCGG others(40): Show TCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTC	T T	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	404	0.0025	-47	c.166 others(62): Show c.166+176_166+222delCGGGGTCCGCCCTCCTGCAATGCCCGCTCC CCCTCCACTATTCCCCC		NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr19	TogoVar
NMRK2_chr19_3928069_3947416	3937472	GCCCTCCT others(40): Show GCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCCCCCAGGGTCCGC	G G	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	404	0.0025	-47	c.166 others(62): Show c.166+187_166+233delCTCCTGCAATGCCCGCTCCCCCTCCACTAT TCCCCCAGGGTCCGCCC		NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr19	TogoVar
NOP14_chr4_2932936_2968406	2960969	ATATTATA others(40): Show ATATTATATTAATATTATATCGATATTATTTTAATATTATATCAATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02572.hp2 HG02647.hp2	a0007 a0007	a0007c0015 a0007c0017 a0007c0015 a0007c0017	a0007c0015t0007 a0007c0017t0001 a0007c0015t0007 a0007c0017t0001	a0007c0015t0007g0261 a0007c0017t0001g0307 a0007c0015t0007g0261 a0007c0017t0001g0307	2	422	0.0047	-47	c.195 others(64): Show c.195+2109_195+2155delATATTGATATAATATTAAAATAATATCG ATATAATATTAATATAATA		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17					chr4	TogoVar
NOTCH1_chr9_136489433_136551048	136535432	CTCCCTCC others(40): Show CTCCCTCCCAGGGGCAATGGGTGCAGGGTAGGCGGGGAGCACTCAGGA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02451.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0004 a0001c0001t0004 a0001c0006t0004	a0001c0001t0004g0128 a0001c0006t0004g0067 a0001c0001t0004g0128 a0001c0006t0004g0067	2	324	0.0062	-47	c.140 others(64): Show c.140+8545_140+8591delTCCTGAGTGCTCCCCGCCTACCCTGCAC CCATTGCCCCTGGGAGGGA		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33					chr9	TogoVar
NPIPB11_chr16_29376310_29411711	29403642	TGCTCAAG others(40): Show TGCTCAAGGGCACCAGGCCCCATCTGTCTGCACTCACTCACCTTCCTC	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19043.hp2 NA19043.hp2	a0135 a0135	a0135c0052 a0135c0052	a0135c0052t0021 a0135c0052t0021	a0135c0052t0021g0041 a0135c0052t0021g0041	1	428	0.0023	-47	c.114 others(57): Show c.114_120+40delGAGGAAGGTGAGTGAGTGCAGACAGATGGGGCCTG GTGCCCTTGAGC	p.Arg others(4): Show p.Arg39fs	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	2/8	114/3486	38/1161			chr16	TogoVar
NRROS_chr3_196634694_196667004	196634704	TGGAGAAG others(40): Show TGGAGAAGTGGGGACTGGGAGAAGTGGGGGCTAGAGAAGTGGGGGCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01099.hp2 NA18939.hp1 HG01074.hp2 HG01099.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0004t0001g0223 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0004t0001g0223	3	472	0.0064	-47	c.-51 others(58): Show c.-5184_-5138delGGAGAAGTGGGGACTGGGAGAAGTGGGGGCTAGA GAAGTGGGGGCTG		NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding				4989		chr3	TogoVar
NSMCE2_chr8_125086860_125372120	125223169	AACATGGT others(40): Show AACATGGTGAAATCCCATCTGTACAAAAAATACAAAAAAATTAGCCAG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19079.hp1 NA18946.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0029 a0001c0001t0001g0041	2	244	0.0082	-47	c.418 others(66): Show c.418+40922_418+40968delAAATCCCATCTGTACAAAAAATACAA AAAAATTAGCCAGACATGGTG		NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7				INFO_REALIGN_3_PRIME	chr8	TogoVar
NTN5_chr19_48656407_48678017	48669772	TCACCATC others(40): Show TCACCATCACACCACCACCATCACCATCACCACCATCATCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	412	0.0024	-47	c.631 others(62): Show c.631+537_631+583delGTGATGGTGATGATGGTGGTGATGGTGATG GTGGTGGTGTGATGGTG		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6					chr19	TogoVar
NUP54_chr4_76109664_76153397	76136988	TTTTCTAA others(40): Show TTTTCTAATAATATTTTTTTGAGACAGGGTCTTACTTTGTTGCCTAGA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0067 a0002c0002t0003g0067	1	370	0.0027	-47	c.296 others(62): Show c.296-623_296-577delTCTAGGCAACAAAGTAAGACCCTGTCTCAA AAAAATATTATTAGAAA		NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	3/11					chr4	TogoVar
NWD1_chr19_16714847_16822953	16735819	AAGGAAGG others(40): Show AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0274 a0005c0004t0001g0274	1	300	0.0033	-47	c.82- others(60): Show c.82-805_82-759delAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAGGAAGGAA		NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18				INFO_REALIGN_3_PRIME	chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463911	GAAGAAGA others(40): Show GAAGAAGAAGAAAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	408	0.0025	-47	c.-30 others(58): Show c.-3089_-3043delTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTCTTC TTTTCTTCTTCTT		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding				2986		chr19	TogoVar
NXPE4_chr11_114565591_114600786	114566215	CATCGATA others(40): Show CATCGATAGTATTTAAGCCAGGGAGTGGGTATCACCCCAAATTAGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0002 a0003c0018t0002	a0003c0018t0002g0103 a0003c0018t0002g0103	1	432	0.0023	-47	c.46 others(58): Show c.4676_*4722delATGCTAATTTGGGGTGATACCCACTCCCTGGCTT AAATACTATCGAT		NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding				4375		chr11	TogoVar
NXPE4_chr11_114565591_114600786	114593747	CAATAGCC others(40): Show CAATAGCCAAGATTTGTAAGCAACCTAAGTGTCCATCAACAGACAAAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0227 a0003c0003t0002g0227	1	432	0.0023	-47	c.96+ others(60): Show c.96+870_96+916delATTTGTCTGTTGATGGACACTTAGGTTGCTTA CAAATCTTGGCTATT		NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding	2/5					chr11	TogoVar
OGFOD3_chr17_82384210_82423586	82396300	CAGATGTA others(40): Show CAGATGTACGACATCAAATCACAGGTAAACACATAGATACACACAATT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG03209.hp2 others(1): Show HG02615.hp1 HG02723.hp1 HG03209.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0027 a0001c0001t0011g0031 others(1): Show a0001c0001t0011g0017 a0001c0001t0011g0027 a0001c0001t0011g0031 a0001c0001t0011g0032	4	348	0.0115	-47	c.823 others(64): Show c.823+1849_823+1895delAATTGTGTGTATCTATGTGTTTACCTGT GATTTGATGTCGTACATCT		OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	8/8					chr17	TogoVar
OLFM1_chr9_135082668_135126180	135124532	GAAAGAAG others(40): Show GAAAGAAGGAAGGAAGGAAGGAAGGAAGGGGCAGGGGAAGGGAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0193 a0001c0001t0015g0193	1	360	0.0028	-47	c.43 others(58): Show c.4355_*4401delAAAGAAGGAAGGAAGGAAGGAAGGAAGGGGCAGG GGAAGGGAAGAAA		OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding				3353		chr9	TogoVar
OOSP2_chr11_60035409_60053044	60049679	CTTTTGCT others(40): Show CTTTTGCTGTGCAGAAGCTCTTTAGTTTAATGAGATCCCATTTGTCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	198	0.0051	-47	c.26 others(58): Show c.2607_*2653delTTTTGCTGTGCAGAAGCTCTTTAGTTTAATGAGA TCCCATTTGTCAA		OOSP2	ENSG00000149507.7	transcript	ENST00000278855.7	protein_coding				1636		chr11	TogoVar
OPA3_chr19_45541281_45589802	45572560	GATATATA others(40): Show GATATATATCATGATATATGTATATAAATATATATATTGATATATATC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0210 a0001c0001t0031g0211 a0001c0001t0031g0210 a0001c0001t0031g0211	2	398	0.0050	-47	c.142 others(66): Show c.142+12016_142+12062delGATATATATCAATATATATATTTATA TACATATATCATGATATATAT		OPA3	ENSG00000125741.6	transcript	ENST00000263275.5	protein_coding	1/1					chr19	TogoVar
OPRL1_chr20_64075082_64105633	64094049	TGTGGGTC others(40): Show TGTGGGTCAGTGTGGGGGCAGAGTGGGGGCAGTGTGGGGGGCAGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0021 a0002c0002t0019g0021	1	66	0.0152	-47	c.233 others(64): Show c.233+1098_233+1144delTGGGTCAGTGTGGGGGCAGAGTGGGGGC AGTGTGGGGGGCAGTGTGG		OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4				INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64094230	GGCAGTGT others(40): Show GGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGGGGGCAGTGTGTGGGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	66	0.0152	-47	c.233 others(64): Show c.233+1278_233+1324delGCAGTGTGGGGGCAGTGTGTGGGTCAGT GTGGGGGCAGTGTGTGGGT		OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4					chr20	TogoVar
OR10R2_chr1_158467220_158485936	158473790	CTTTCCCT others(40): Show CTTTCCCTCTCTGCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18949.hp2 NA18991.hp1 HG02027.hp2 NA18949.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0109 a0001c0001t0001g0045 a0001c0001t0001g0109	3	446	0.0067	-47	c.27+ others(62): Show c.27+1439_27+1485delTTTCCCTCTCTGCTTCCTTCCTCCCTCCTT CCCTCTTTCCCTCTCTG		OR10R2	ENSG00000198965.5	transcript	ENST00000641067.1	protein_coding	1/1					chr1	TogoVar
OR13D1_chr9_104689518_104700462	104693385	TAGTCTTC others(40): Show TAGTCTTCTCTTGCGTGGAATCTGTGTAGTAACCACTGAGAGAGAGTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0000 a0014c0020t0000	a0014c0020t0000g0000 a0014c0020t0000g0000	1	396	0.0025	-47	c.-11 others(58): Show c.-1132_-1086delAGTCTTCTCTTGCGTGGAATCTGTGTAGTAACCA CTGAGAGAGAGTA		OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding				1132		chr9	TogoVar
OR2H1_chr6_29452155_29469328	29462983	TGTTCTTT others(40): Show TGTTCTTTTTACTGTCATCACTTCTATAGATTTCCTAACTCCACCATG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0005 a0001c0002t0015g0005	1	453	0.0022	-47	c.26 others(56): Show c.264_*310delGTTCTTTTTACTGTCATCACTTCTATAGATTTCCTA ACTCCACCATG		OR2H1	ENSG00000204688.10	transcript	ENST00000377133.6	protein_coding	4/4			264		chr6	TogoVar
OSBPL10_chr3_31655825_31986262	31769483	AATAAAAA others(40): Show AATAAAAATATATTTTATTAAAAATATATTTTTATATTATAACTCATT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01192.hp1 HG01243.hp1 others(18): Show HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01891.hp2 HG02055.hp2 HG02258.hp2 HG02486.hp1 HG02622.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03579.hp2 NA18906.hp1 NA18941.hp1 NA19030.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0001c0023 others(4): Show a0001c0001 a0001c0009 a0001c0023 a0001c0025 a0001c0028 a0003c0008 a0003c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0009t0005 a0001c0023t0001 a0001c0025t0002 a0001c0028t0001 a0003c0008t0001 a0003c0008t0002 a0003c0020t0001	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0079 others(18): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0002g0146 a0001c0001t0003g0163 a0001c0009t0005g0170 a0001c0023t0001g0015 a0001c0025t0002g0089 a0001c0028t0001g0085 a0003c0008t0001g0006 a0003c0008t0002g0008 a0003c0020t0001g0010	21	186	0.1129	-47	c.730 others(66): Show c.730-21410_730-21364delAATGAGTTATAATATAAAAATATATT TTTAATAAAATATATTTTTAT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11					chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31812719	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0045 a0002c0003t0001g0045	1	186	0.0054	-47	c.729 others(66): Show c.729+17274_729+17320delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11					chr3	TogoVar
OSER1_chr20_44190939_44215771	44203186	GGTTTCTC others(40): Show GGTTTCTCAAAAATTGCTCAGCTTTTAATGTAAATTTTCCTTCAAAAC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp2 HG02055.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0065 a0001c0004t0007g0112 a0001c0004t0007g0065 a0001c0004t0007g0112	2	444	0.0045	-47	c.78- others(60): Show c.78-159_78-113delGTTTTGAAGGAAAATTTACATTAAAAGCTGAG CAATTTTTGAGAAAC		OSER1	ENSG00000132823.11	transcript	ENST00000255174.3	protein_coding	2/3					chr20	TogoVar
OTUD1_chr10_23434075_23447377	23438860	GCGCCCCC others(40): Show GCGCCCCCGGCCTCGCCCCGCCCGCGCGCGCTCGCGCGCCGAGGGCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0000 a0001c0003t0004g0000	1	434	0.0023	-47	c.-59 others(56): Show c.-597_-551delCGCCCCCGGCCTCGCCCCGCCCGCGCGCGCTCGCGC GCCGAGGGCCA		OTUD1	ENSG00000165312.7	transcript	ENST00000376495.5	protein_coding				214		chr10	TogoVar

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Search Results (Total: 916 hits)