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
NPEPL1_chr20_58687800_58720844	58711110	C C	CTCCTCCT others(32): Show CTCCTCCTCCCCCCCCTCCTCCCCCTCCTCCCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03516.hp2 HG03688.hp1 HG01175.hp1 HG03516.hp2 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0003 a0001c0003t0005	a0001c0003t0003g0113 a0001c0003t0003g0117 a0001c0003t0005g0073 a0001c0003t0003g0113 a0001c0003t0003g0117 a0001c0003t0005g0073	3	398	0.0075	39	c.901 others(56): Show c.901-1369_901-1368insTCCTCCTCCCCCCCCTCCTCCCCCTCCT CCCCCTCTCCT		NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	7/11						chr20	TogoVar
NPEPL1_chr20_58687800_58720844	58711110	C C	CTCCTCCT others(32): Show CTCCTCCTCCCCCCCTCCTCCCCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0091 a0001c0003t0001g0091	1	398	0.0025	39	c.901 others(56): Show c.901-1369_901-1368insTCCTCCTCCCCCCCTCCTCCCCCTCCTC CCCCTCCTCCT		NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	7/11						chr20	TogoVar
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03669.hp1 HG02273.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0206 a0001c0001t0002g0175 a0001c0001t0002g0206	2	342	0.0059	39	c.255 others(56): Show c.255+6670_255+6671insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
NPFFR1_chr10_70242329_70289004	70272211	G G	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0029 a0001c0001t0018g0029	1	368	0.0027	39	c.8-5 others(52): Show c.8-5821_8-5820insTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTTC TTTCTTT		NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3						chr10	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0174 a0001c0004t0001g0174	1	208	0.0048	39	c.517 others(56): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAATATATATATAT ATATATATATA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29						chr1	TogoVar
NPHP4_chr1_5857811_5997425	5978574	T T	TTATTGGG others(32): Show TTATTGGGAGGCTACCTCTCTCCCACAGCTACGGTCTTGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	208	0.0048	39	c.136 others(54): Show c.136-162_136-161insCCAAGACCGTAGCTGTGGGAGAGAGGTAGC CTCCCAATA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	2/29						chr1	TogoVar
NPHP4_chr1_5857811_5997425	5997239	C C	CTAGTGAT others(32): Show CTAGTGATAGTGATTTGGATTTTTAATTTTCAAAAAAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	208	0.0048	39	c.-50 others(50): Show c.-5035_-5034insTACTTTTTTGAAAATTAAAAATCCAAATCACTAT CACTA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding					4815		chr1	TogoVar
NPIPB15_chr16_74371306_74397115	74377800	C C	CCCCCTTC others(32): Show CCCCCTTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	261	0.0038	39	c.-22 others(54): Show c.-22-147_-22-146insTCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCT		NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB2_chr16_11922373_11947045	11927438	A A	ATTCCACC others(32): Show ATTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03490.hp2 HG03492.hp1 HG03669.hp1 others(2): Show HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0000 a0002c0009t0000	a0002c0009t0000g0014 a0002c0009t0000g0341 a0002c0009t0000g0343 a0002c0009t0000g0014 a0002c0009t0000g0341 a0002c0009t0000g0343	5	414	0.0121	39	c.112 others(48): Show c.1128_1129insCCACCCGAACCCAAGAGGCGGAGGGCCGCTGAGGTG GAA	p.Pro others(13): Show p.Pro364_Pro376dup	NPIPB2	ENSG00000234719.9	transcript	ENST00000399147.8	protein_coding	8/8	1128/1194	1128/1194	376/397			chr16	TogoVar
NPIPB6_chr16_28337517_28368508	28339066	C C	CGAGACTC others(32): Show CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02257.hp1 HG02258.hp2 others(7): Show HG01106.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02630.hp1 HG02647.hp1 HG02922.hp2 HG02976.hp1 HG03225.hp1 HG03486.hp2	a0004 a0008 a0004 a0008	a0004c0004 a0008c0012 a0004c0004 a0008c0012	a0004c0004t0002 a0004c0004t0004 a0008c0012t0002 a0004c0004t0002 a0004c0004t0004 a0008c0012t0002	a0004c0004t0002g0225 a0004c0004t0002g0236 a0004c0004t0002g0237 others(7): Show a0004c0004t0002g0225 a0004c0004t0002g0236 a0004c0004t0002g0237 a0004c0004t0002g0239 a0004c0004t0002g0240 a0004c0004t0002g0241 a0004c0004t0002g0243 a0004c0004t0002g0252 a0004c0004t0004g0024 a0008c0012t0002g0230	10	361	0.0277	39	c.35 others(50): Show c.3540_*3541insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTC		NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding					3450		chr16	TogoVar
NRCAM_chr7_108142649_108461436	108164547	C C	CCAGCGGG others(32): Show CCAGCGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02922.hp1 others(4): Show HG01256.hp2 HG01258.hp2 HG02922.hp1 HG03486.hp1 HG03669.hp1 HG04204.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0005 a0002c0008 a0001c0009 a0002c0005 a0002c0008	a0001c0009t0002 a0002c0005t0003 a0002c0008t0003 a0001c0009t0002 a0002c0005t0003 a0002c0008t0003	a0001c0009t0002g0049 a0001c0009t0002g0092 a0001c0009t0002g0119 others(4): Show a0001c0009t0002g0049 a0001c0009t0002g0092 a0001c0009t0002g0119 a0001c0009t0002g0120 a0001c0009t0002g0164 a0002c0005t0003g0200 a0002c0008t0003g0025	7	208	0.0337	39	c.346 others(58): Show c.3466+2373_3466+2374insCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCCCGCTG		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32						chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	384	0.0026	39	c.64 others(50): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATA TATAT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding					4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01928.hp2 HG01261.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0069 a0001c0001t0002g0071	2	384	0.0052	39	c.64 others(50): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TATAT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding					4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19082.hp1 NA19074.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0030 a0001c0001t0002g0034	2	384	0.0052	39	c.64 others(50): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TATAT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding					4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAATATATATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	384	0.0026	39	c.64 others(50): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAATATATATATATAATA TATAT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding					4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	384	0.0026	39	c.64 others(50): Show c.6499_*6500insAAAAAAAAAAAAAAAAAATATATATATATATATA TATAT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding					4605		chr7	TogoVar
NRG2_chr5_139841781_140048299	140029687	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01934.hp1 HG02080.hp2 others(1): Show HG01099.hp1 HG01934.hp1 HG02080.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0001c0001t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0022 a0001c0001t0001g0071 a0002c0002t0002g0009 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0071 a0002c0002t0002g0009 a0003c0003t0001g0043	4	188	0.0213	39	c.700 others(58): Show c.700+12682_700+12683insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		NRG2	ENSG00000158458.21	transcript	ENST00000361474.6	protein_coding	1/9						chr5	TogoVar
NRG3_chr10_81870194_82992178	82132525	G G	GATATATA others(32): Show GATATATATATGATATATATATCATATATATATATCATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03017.hp1 HG03516.hp1 HG02630.hp1 HG03017.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0002t0007 a0001c0001t0003 a0001c0002t0002 a0001c0002t0007	a0001c0001t0003g0010 a0001c0002t0002g0041 a0001c0002t0007g0066 a0001c0001t0003g0010 a0001c0002t0002g0041 a0001c0002t0007g0066	3	66	0.0455	39	c.824 others(60): Show c.824-226193_824-226192insCATATATATATATCATATATATAT ATATGATATATATAT		NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
NRXN1_chr2_49913503_51037132	50334190	C C	CACATTTT others(32): Show CACATTTTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp1 HG03195.hp2 others(1): Show HG02886.hp1 HG02922.hp1 HG03195.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0035 a0001c0002t0001 a0001c0002t0045 others(1): Show a0001c0001t0035 a0001c0002t0001 a0001c0002t0045 a0001c0003t0002	a0001c0001t0035g0061 a0001c0002t0001g0104 a0001c0002t0045g0087 others(1): Show a0001c0001t0035g0061 a0001c0002t0001g0104 a0001c0002t0045g0087 a0001c0003t0002g0024	4	116	0.0345	39	c.336 others(60): Show c.3365-97221_3365-97220insATATATATATATATATATATATAT ATATATATAAAATGT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAGG others(32): Show AAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19030.hp1 HG02559.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0086 a0001c0002t0005g0083 a0001c0002t0002g0086 a0001c0002t0005g0083	2	116	0.0172	39	c.336 others(60): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTCTT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN3_chr14_78165373_79873291	79257370	G G	GTGGTGGT others(32): Show GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0019 a0001c0003t0012g0019	1	24	0.0417	39	c.326 others(62): Show c.3263-209843_3263-209842insATGGTGGTGGTGGTGGTGGTGG TGGTGGTGATGGTGGTG		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79257541	G G	GTGGTGGT others(32): Show GTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19043.hp1 HG03225.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0015 a0001c0002t0007 a0001c0002t0015	a0001c0002t0007g0009 a0001c0002t0015g0011 a0001c0002t0007g0009 a0001c0002t0015g0011	2	24	0.0833	39	c.326 others(62): Show c.3263-209669_3263-209668insATGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTG		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0148 a0003c0003t0008g0148	1	388	0.0026	39	c.754 others(54): Show c.754-454_754-453insAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATA		NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN5_chr7_73297516_73313826	73312097	A A	ATTACCCT others(32): Show ATTACCCTTTCATTATTATGTTTAAATTTTGTGTGGGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	420	0.0024	39	c.-33 others(50): Show c.-3308_-3307insGTACCCACACAAAATTTAAACATAATAATGAAAG GGTAA		NSUN5	ENSG00000130305.17	transcript	ENST00000438747.7	protein_coding					3272		chr7	TogoVar
NSUN6_chr10_18540561_18656587	18560064	A A	ATGGAGAA others(32): Show ATGGAGAATGGAATGGAATGGAGATTGAGCTGGAATGGAG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	346	0.0029	39	c.923 others(56): Show c.923-8094_923-8093insCTCCATTCCAGCTCAATCTCCATTCCAT TCCATTCTCCA		NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10						chr10	TogoVar
NSUN6_chr10_18540561_18656587	18562787	T T	TGGAATGG others(32): Show TGGAATGGAATGGATAATGGAATGGAATGGAGTGGAGAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	346	0.0029	39	c.923 others(58): Show c.923-10817_923-10816insTTTCTCCACTCCATTCCATTCCATTA TCCATTCCATTCC		NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10						chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATACACATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0324 a0001c0001t0006g0324	1	346	0.0029	39	c.658 others(56): Show c.658-4615_658-4614insATATGTGTATATATATATATATATATAT ATATATTTTTT		NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10						chr10	TogoVar
NT5C2_chr10_103083038_103198272	103087140	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0020 a0001c0002t0004g0020	1	340	0.0029	39	c.25 others(50): Show c.2531_*2532insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding					897		chr10	TogoVar
NTM_chr11_131365615_132341822	131685291	A A	AGCATCCA others(32): Show AGCATCCATGGGAAGCAGCTGGGGGCTCATGGAGAGTCGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp2 HG03041.hp2 others(3): Show HG02055.hp2 HG02615.hp2 HG03041.hp2 HG03098.hp1 HG03540.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0004t0003	a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0020 others(3): Show a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0020 a0001c0001t0002g0053 a0001c0001t0010g0019 a0001c0004t0003g0054	6	86	0.0698	39	c.83- others(58): Show c.83-226230_83-226192dupTCCATGGGAAGCAGCTGGGGGCTCAT GGAGAGTCGGGCA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131874032	T T	TATAATAT others(32): Show TATAATATAATATTATATATATATATAATAATATAATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03239.hp2 HG03710.hp1 others(2): Show HG01255.hp1 HG03239.hp2 HG03710.hp1 HG04184.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0058 a0001c0001t0002g0033 a0001c0001t0002g0035 others(2): Show a0001c0001t0001g0058 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0003g0061 a0001c0002t0001g0075	5	86	0.0581	39	c.83- others(56): Show c.83-37529_83-37528insATATAATATTATATATATATATAATAAT ATAATATAATA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9038265	C C	CTCACACA others(32): Show CTCACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02970.hp2 HG03139.hp2 HG02280.hp1 HG02970.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0112 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0112	3	258	0.0116	39	c.101 others(60): Show c.1018+14874_1018+14875insTCACACACACACACACACACACAC ACACACACACACACA		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6						chr17	TogoVar
NTN1_chr17_9016510_9249000	9114166	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0120 a0001c0001t0008g0120	1	258	0.0039	39	c.101 others(60): Show c.1019-48646_1019-48645insAAAAAAAAAAATATATATATATAT ATATATATATATATA		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9114166	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 HG02922.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0004 a0001c0001t0019	a0001c0001t0004g0172 a0001c0001t0019g0173 a0001c0001t0004g0172 a0001c0001t0019g0173	2	258	0.0078	39	c.101 others(60): Show c.1019-48646_1019-48645insAAAAAAATATATATATATATATAT ATATATATATATATA		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN5_chr19_48656407_48678017	48669243	C C	CCACCACC others(32): Show CCACCACCACGACCATCATCACCACCACCATCACCACTAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0156 a0001c0002t0002g0156	1	412	0.0024	39	c.631 others(56): Show c.631+1112_631+1113insATAGTGGTGATGGTGGTGGTGATGATGG TCGTGGTGGTG		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
NTN5_chr19_48656407_48678017	48669549	C C	CCATCATC others(32): Show CCATCATCACCATCACCACCATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	412	0.0024	39	c.631 others(54): Show c.631+806_631+807insATGGTGGTGGTGGTGGTGATGGTGGTGATG GTGATGATG		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
NUDT12_chr5_103543855_103567789	103562821	G G	GAGGGGGG others(32): Show GAGGGGGGGCGGGAGGGGGGCCGGGGGCGGGAGGGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01934.hp2 HG02723.hp2 others(1): Show HG01175.hp2 HG01934.hp2 HG02723.hp2 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0007 a0001c0003t0005 a0001c0003t0007	a0001c0003t0005g0005 a0001c0003t0005g0017 a0001c0003t0007g0142 a0001c0003t0005g0005 a0001c0003t0005g0017 a0001c0003t0007g0142	4	438	0.0091	39	c.-12 others(48): Show c.-126_-125insGGCCCCCCTCCCGCCCCCGGCCCCCCTCCCGCCCCC CCT		NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding					33		chr5	TogoVar
NUDT17_chr1_145840630_145853954	145842809	A A	AGATAGAT others(32): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02630.hp1 HG02647.hp1 others(4): Show HG01433.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0003g0005 a0001c0001t0001g0005 a0001c0001t0003g0005	7	406	0.0172	39	c.-28 others(50): Show c.-2832_-2831insGATAGATAGATAGATAGATAGATAGATAGATAGA TAGAT		NUDT17	ENSG00000186364.12	transcript	ENST00000334513.6	protein_coding					2820		chr1	TogoVar
NUDT21_chr16_56424133_56456332	56425436	T T	TGCCGCTG others(32): Show TGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	414	0.0024	39	c.72 others(50): Show c.7275_*7276insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCA GCGGC		NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding					3696		chr16	TogoVar
NUDT4_chr12_93372925_93413146	93382674	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0222 a0001c0002t0222	a0001c0002t0222g0057 a0001c0002t0222g0057	1	414	0.0024	39	c.99+ others(54): Show c.99+4273_99+4274insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
NUP133_chr1_229435259_229513341	229512581	A A	AGGGGGGG others(32): Show AGGGGGGGGGGGGGGTGAGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0021	1	276	0.0036	39	c.-43 others(50): Show c.-4333_-4332insCCCCCCCCCCCCCCCCCCCCCCTCACCCCCCCCC CCCCC		NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding					4241		chr1	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(32): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG03831.hp1 NA18906.hp1 others(2): Show HG02735.hp1 HG03831.hp1 NA18906.hp1 NA18943.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0196 a0001c0001t0002g0203 others(2): Show a0001c0001t0002g0063 a0001c0001t0002g0196 a0001c0001t0002g0203 a0001c0001t0002g0213 a0001c0001t0002g0297	5	338	0.0148	39	c.38 others(50): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTCT		NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding					2907		chr11	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(32): Show CCACCACCACCACCACCACCACCAACAACAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02622.hp2 HG00621.hp1 HG02622.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0001 a0003c0006t0006 a0002c0002t0001 a0003c0006t0006	a0002c0002t0001g0249 a0003c0006t0006g0051 a0002c0002t0001g0249 a0003c0006t0006g0051	2	326	0.0061	39	c.57 others(50): Show c.5713_*5714insTTGTTGTTGTTGTTGTTGGTGGTGGTGGTGGTGG TGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(32): Show CCACCACCACCACCACCACCACCACCAACAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0046 a0003c0006t0005g0046	1	326	0.0031	39	c.57 others(50): Show c.5713_*5714insTTGTTGTTGTTGTTGGTGGTGGTGGTGGTGGTGG TGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(32): Show CCACCACCACCACCACCACCACCACCACCACCACCAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03041.hp1 HG03471.hp2 others(1): Show HG02818.hp1 HG03041.hp1 HG03471.hp2 NA19043.hp1	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0020	a0003c0005 a0005c0003 a0006c0007 others(1): Show a0003c0005 a0005c0003 a0006c0007 a0020c0020	a0003c0005t0005 a0005c0003t0001 a0006c0007t0001 others(1): Show a0003c0005t0005 a0005c0003t0001 a0006c0007t0001 a0020c0020t0001	a0003c0005t0005g0028 a0005c0003t0001g0302 a0006c0007t0001g0021 others(1): Show a0003c0005t0005g0028 a0005c0003t0001g0302 a0006c0007t0001g0021 a0020c0020t0001g0193	4	326	0.0123	39	c.57 others(50): Show c.5713_*5714insTTGTTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(32): Show ATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0226 a0002c0002t0001g0226	1	234	0.0043	39	c.590 others(56): Show c.5902+800_5902+801insATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP93_chr16_56725129_56855286	56815865	A A	ACTGCTGC others(32): Show ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01993.hp1 HG02293.hp2 others(3): Show HG01261.hp1 HG01993.hp1 HG02293.hp2 NA18612.hp2 NA18948.hp2 NA19081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0023 a0001c0004t0005g0025 a0001c0004t0005g0027 others(3): Show a0001c0004t0005g0023 a0001c0004t0005g0025 a0001c0004t0005g0027 a0001c0004t0005g0031 a0001c0004t0005g0032 a0001c0004t0005g0035	6	378	0.0159	39	c.490 others(56): Show c.490-2766_490-2765insCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTG		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56815902	C C	CTGCTGCT others(32): Show CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0029 a0001c0004t0005g0029	1	378	0.0027	39	c.490 others(56): Show c.490-2748_490-2747insCTGCTGCTGCTGCTGCTGCTGCTGGTGC TGCTGCTGCTG		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0092 a0001c0001t0097g0092	1	368	0.0027	39	c.21 others(50): Show c.2119_*2120insAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAA AGAAA		NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3				2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0071 a0001c0001t0073g0071	1	368	0.0027	39	c.21 others(50): Show c.2119_*2120insAAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAA AGAAA		NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3				2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0150 a0001c0001t0103g0150	1	368	0.0027	39	c.21 others(50): Show c.2111_*2112insAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAA AGAAA		NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3				2447		chr16	TogoVar

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Search Results (Total: 3425 hits)