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
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	404	0.0025	37	c.33+ others(54): Show c.33+33431_33+33432insATATATATATATATATTTTTTTTTTTTT TTTTTTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19240.hp1 HG02717.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0075 a0001c0001t0002g0076	2	404	0.0050	37	c.33+ others(54): Show c.33+33431_33+33432insATATATATATATATATATTTTTTTTTTT TTTTTTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03942.hp2 NA18962.hp1 HG02155.hp2 HG03942.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0002g0374 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0002g0374	3	404	0.0074	37	c.33+ others(54): Show c.33+33431_33+33432insATATATATATATATATATATTTTTTTTT TTTTTTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	404	0.0025	37	c.33+ others(54): Show c.33+33431_33+33432insATATATATATATATATATATATTTTTTT TTTTTTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINL_chr20_25447697_25590531	25468490	C C	CCCCTGCC others(30): Show CCCCTGCCCTGTCCCCCGACTCTCACTGGTTGGCACTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01255.hp2 HG01515.hp1 others(38): Show HG00544.hp1 HG01255.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp1 HG01981.hp2 HG02027.hp1 HG02523.hp2 HG02572.hp1 HG02723.hp1 HG02895.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18980.hp2 NA18985.hp2 NA18998.hp1 NA19011.hp2 NA19057.hp2 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1	a0002 a0003 a0014 others(1): Show a0002 a0003 a0014 a0022	a0002c0002 a0003c0003 a0003c0013 others(2): Show a0002c0002 a0003c0003 a0003c0013 a0014c0020 a0022c0024	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0009 a0003c0003t0004 a0003c0013t0002 a0014c0020t0004 a0022c0024t0002	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(38): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0002g0234 a0002c0002t0004g0020 a0002c0002t0004g0035 a0002c0002t0009g0233 a0003c0003t0004g0016 a0003c0003t0004g0017 a0003c0003t0004g0018 a0003c0003t0004g0019 a0003c0003t0004g0022 a0003c0003t0004g0023 a0003c0003t0004g0024 a0003c0003t0004g0025 a0003c0003t0004g0026 a0003c0003t0004g0027 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0030 a0003c0003t0004g0031 a0003c0003t0004g0032 a0003c0003t0004g0033 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0003t0004g0037 a0003c0003t0004g0038 a0003c0003t0004g0039 a0003c0003t0004g0040 a0003c0003t0004g0041 a0003c0003t0004g0044 a0003c0003t0004g0047 a0003c0003t0004g0048 a0003c0003t0004g0049 a0003c0003t0004g0050 a0003c0013t0002g0043 a0003c0013t0002g0045 a0003c0013t0002g0046 a0014c0020t0004g0021 a0014c0020t0004g0042 a0022c0024t0002g0051	41	310	0.1323	37	c.335 others(56): Show c.3354-1069_3354-1033dupCAGTGCCAACCAGTGAGAGTCGGGGG ACAGGGCAGGG		NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	18/23						chr20	TogoVar
NINL_chr20_25447697_25590531	25469053	A A	AACTCTCA others(30): Show AACTCTCACTGGTGGGTGCCCCACTGCCCTGTCCCCTG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02300.hp1 HG03098.hp1 others(5): Show HG01943.hp2 HG02300.hp1 HG03098.hp1 HG06807.hp1 NA18942.hp1 NA18961.hp2 NA18983.hp2 NA18984.hp1	a0001 a0025 a0001 a0025	a0001c0001 a0025c0028 a0001c0001 a0025c0028	a0001c0001t0001 a0025c0028t0001 a0001c0001t0001 a0025c0028t0001	a0001c0001t0001g0125 a0001c0001t0001g0164 a0001c0001t0001g0165 others(5): Show a0001c0001t0001g0125 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0025c0028t0001g0167	8	310	0.0258	37	c.335 others(54): Show c.3353+901_3353+937dupCAGGGGACAGGGCAGTGGGGCACCCACC AGTGAGAGT		NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	18/23						chr20	TogoVar
NINL_chr20_25447697_25590531	25469297	C C	CTGCCCTG others(30): Show CTGCCCTGTCCCCCGACTCTCACTGGTGAGTACCCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG02895.hp1 others(8): Show HG01884.hp1 HG02559.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp2 NA19043.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0002c0011 a0007c0007 a0002c0002 a0002c0011 a0007c0007	a0002c0002t0002 a0002c0002t0009 a0002c0011t0002 others(1): Show a0002c0002t0002 a0002c0002t0009 a0002c0011t0002 a0007c0007t0002	a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0009g0233 others(8): Show a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0009g0233 a0002c0011t0002g0236 a0002c0011t0002g0237 a0002c0011t0002g0238 a0007c0007t0002g0150 a0007c0007t0002g0152 a0007c0007t0002g0153 a0007c0007t0002g0158 a0007c0007t0002g0179	11	310	0.0355	37	c.335 others(54): Show c.3353+657_3353+693dupAGGGGGTACTCACCAGTGAGAGTCGGGG GACAGGGCA		NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	18/23						chr20	TogoVar
NKAIN3_chr8_62243854_62989904	62883457	G G	GTTGTTGT others(30): Show GTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0081 a0002c0003t0081	a0002c0003t0081g0123 a0002c0003t0081g0123	1	144	0.0069	37	c.472 others(56): Show c.472-34994_472-34993insGTTGTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAP_chrX_119915672_119948751	119934430	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	320	0.0031	37	c.737 others(50): Show c.737+63_737+64insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		NKAP	ENSG00000101882.10	transcript	ENST00000371410.5	protein_coding	5/8						chrX	TogoVar
NKD2_chr5_1003802_1043943	1022070	T T	TCCTTGCT others(30): Show TCCTTGCTGTCCTTCAGCCCCAGAGCCTGCACCCTTGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	319	0.0031	37	c.142 others(56): Show c.142-10073_142-10037dupTCCTTCAGCCCCAGAGCCTGCACCCT TGACCTTGCTG		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
NKX2-5_chr5_173227109_173240206	173238827	G G	GCCTCCGC others(30): Show GCCTCCGCCTCCTCCTCCGCCTCCGCGCCGGGGCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02965.hp2 HG03516.hp2 HG01243.hp1 HG02965.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0046	3	430	0.0070	37	c.-37 others(48): Show c.-3745_-3744insGCAGGCCCCGGCGCGGAGGCGGAGGAGGAGGCGG AGG		NKX2-5	ENSG00000183072.10	transcript	ENST00000329198.5	protein_coding					3622		chr5	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18995.hp2 HG02280.hp1 NA18995.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0175 a0006c0008t0001g0171 a0001c0001t0001g0175 a0006c0008t0001g0171	2	394	0.0051	37	c.-11 others(56): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA		NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8						chr2	TogoVar
NLRC5_chr16_56984557_57088520	57070872	A A	ATGGTGGT others(30): Show ATGGTGGTTAATGGGGAAGTGTTGTGAGTGAGTTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02055.hp2 others(19): Show HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 NA18522.hp1 NA20300.hp1	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0010	a0001c0003 a0001c0006 a0001c0011 others(11): Show a0001c0003 a0001c0006 a0001c0011 a0001c0017 a0001c0018 a0001c0027 a0001c0068 a0005c0007 a0005c0020 a0005c0087 a0005c0088 a0008c0047 a0010c0107 a0010c0110	a0001c0003t0001 a0001c0003t0011 a0001c0006t0001 others(14): Show a0001c0003t0001 a0001c0003t0011 a0001c0006t0001 a0001c0011t0001 a0001c0011t0004 a0001c0011t0010 a0001c0017t0001 a0001c0018t0004 a0001c0027t0004 a0001c0068t0004 a0005c0007t0004 a0005c0020t0004 a0005c0087t0001 a0005c0088t0004 a0008c0047t0012 a0010c0107t0001 a0010c0110t0004	a0001c0003t0001g0030 a0001c0003t0001g0397 a0001c0003t0011g0311 others(19): Show a0001c0003t0001g0030 a0001c0003t0001g0397 a0001c0003t0011g0311 a0001c0006t0001g0302 a0001c0006t0001g0317 a0001c0011t0001g0401 a0001c0011t0004g0187 a0001c0011t0004g0301 a0001c0011t0010g0385 a0001c0011t0010g0416 a0001c0017t0001g0035 a0001c0018t0004g0299 a0001c0027t0004g0024 a0001c0068t0004g0045 a0005c0007t0004g0305 a0005c0020t0004g0396 a0005c0087t0001g0391 a0005c0088t0004g0411 a0008c0047t0012g0314 a0008c0047t0012g0315 a0010c0107t0001g0310 a0010c0110t0004g0032	22	424	0.0519	37	c.466 others(54): Show c.4667+272_4667+273insTGTTGTGAGTGAGTTGTGTTGGTGGTTA ATGGGGAAG		NLRC5	ENSG00000140853.17	transcript	ENST00000688547.1	protein_coding	38/48					INFO_REALIGN_3_PRIME	chr16	TogoVar
NLRP2_chr19_54961374_55006138	54976810	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18967.hp2 HG02300.hp1 NA18967.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0241 a0002c0003t0003g0256 a0002c0003t0003g0241 a0002c0003t0003g0256	2	429	0.0047	37	c.326 others(52): Show c.326-941_326-940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850476	T T	TGCGGTGT others(30): Show TGCGGTGTACTTCCCGAGGCTGCGGTGTAATTCCCGAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0014 a0014	a0014c0031 a0014c0031	a0014c0031t0001 a0014c0031t0001	a0014c0031t0001g0030 a0014c0031t0001g0030	1	424	0.0024	37	c.-65 others(54): Show c.-65-1532_-65-1531insCTTCCCGAGGCTGCGGTGTAATTCCCGA GGCGGTGTA		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18960.hp1 NA18960.hp2 others(1): Show HG00558.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005	4	413	0.0097	37	c.48 others(48): Show c.4818_*4819insAAAAAAAAAATATATATATATATATATATATATA TAT		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding					4679		chr17	TogoVar
NOL4_chr18_33846100_34229913	34024190	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	168	0.0060	37	c.773 others(54): Show c.773-4590_773-4589insATATATATATATATATATATATATATAT ATATATATA		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAAAATAT others(30): Show AAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	168	0.0060	37	c.773 others(54): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATATATTTT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAATATAT others(30): Show AAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	168	0.0060	37	c.773 others(54): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATATATATT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0109 a0001c0008t0001g0109	1	337	0.0030	37	c.180 others(54): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATATATATT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	337	0.0030	37	c.180 others(54): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATATATTTT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0032 a0001c0011t0001g0032	1	337	0.0030	37	c.180 others(54): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATATTTTTT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	337	0.0030	37	c.180 others(54): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT TTTTTTTTT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	337	0.0030	37	c.180 others(54): Show c.1806+486_1806+487insATATATATATATATATATATATATTTTT TTTTTTTTT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS1AP_chr1_162064691_162375475	162261539	A A	AGAGAAGA others(30): Show AGAGAAGAGAGGAGAGAGAGAGAGAAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02293.hp2 NA18522.hp1 others(1): Show HG01099.hp2 HG02293.hp2 NA18522.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0002t0001	a0001c0001t0001g0127 a0001c0001t0005g0165 a0001c0001t0017g0051 others(1): Show a0001c0001t0001g0127 a0001c0001t0005g0165 a0001c0001t0017g0051 a0001c0002t0001g0040	4	182	0.0220	37	c.178 others(56): Show c.178-25801_178-25800insAGAGAGGAGAGAGAGAGAGAAGAGAG AAGAGAGGAGA		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041071	A A	AAATATAT others(30): Show AAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0012 a0003c0015t0002g0012	1	168	0.0060	37	c.74- others(54): Show c.74-11085_74-11084insATATATATATATATATATATATATATAT ATATATATT		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041071	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	168	0.0060	37	c.74- others(54): Show c.74-11085_74-11084insATATATATATATATATATATATATATAT ATATATATA		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NPAS3_chr14_32933879_33809173	33301323	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	92	0.0109	37	c.386 others(56): Show c.386-65863_386-65862insATATATATATATATATATATATATAT ATATATATATA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11						chr14	TogoVar
NPAS3_chr14_32933879_33809173	33544827	A A	ATATATAT others(30): Show ATATATATATATATATTATATATATATATATAATTATG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0088 a0001c0001t0034g0088	1	92	0.0109	37	c.469 others(56): Show c.469-15293_469-15292insATATATATATATATTATATATATATA TATAATTATGT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPEPL1_chr20_58687800_58720844	58711076	T T	TCCCCCCC others(30): Show TCCCCCCCGCCTCCTCTCCTCCCCGCTCCTCCCTCCTC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0133 a0002c0002t0002g0133	1	398	0.0025	37	c.901 others(54): Show c.901-1396_901-1395insGCCTCCTCTCCTCCCCGCTCCTCCCTCC TCCCCCCCC		NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr20	TogoVar
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	342	0.0029	37	c.255 others(54): Show c.255+6670_255+6671insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
NPFFR1_chr10_70242329_70289004	70272244	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0186 a0002c0004t0004g0186	1	368	0.0027	37	c.8-5 others(50): Show c.8-5854_8-5853insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT		NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3						chr10	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(30): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA19011.hp2 HG04115.hp1 NA19011.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0178 a0001c0004t0001g0194 a0001c0004t0001g0178 a0001c0004t0001g0194	2	208	0.0096	37	c.517 others(54): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29						chr1	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(30): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0184 a0004c0016t0001g0184	1	208	0.0048	37	c.517 others(54): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29						chr1	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(30): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0203 a0001c0003t0002g0203	1	208	0.0048	37	c.517 others(54): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAAAAAAAAAAAAT ATATATATA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29						chr1	TogoVar
NPIPB4_chr16_21829582_21862756	21837324	G G	GTGAGCAC others(30): Show GTGAGCACACACTCGGGAGGTGTCTTGAGATTATCATC	frameshift_variant frameshift_variant	HIGH	HG00621.hp2 HG00621.hp2	a0046 a0046	a0046c0040 a0046c0040	a0046c0040t0001 a0046c0040t0001	a0046c0040t0001g0122 a0046c0040t0001g0122	1	204	0.0049	37	c.106 others(46): Show c.1062_1063insGATGATAATCTCAAGACACCTCCCGAGTGTGTGCTC A	p.Leu others(5): Show p.Leu355fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	1277/4020	1062/3669	354/1222			chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534043	G G	GCGGATGA others(30): Show GCGGATGATAATCTCAAGACACCTCCCGAGTGTCTGTT	frameshift_variant frameshift_variant	HIGH	HG01981.hp2 HG01981.hp2	a0031 a0031	a0031c0035 a0031c0035	a0031c0035t0008 a0031c0035t0008	a0031c0035t0008g0013 a0031c0035t0008g0013	1	47	0.0213	37	c.106 others(46): Show c.1061_1062insGGATGATAATCTCAAGACACCTCCCGAGTGTCTGTT C	p.Leu others(5): Show p.Leu355fs	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	3973/6463	1062/3402	354/1133		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB6_chr16_28337517_28368508	28339066	C C	CGAGACTC others(30): Show CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0246 a0004c0004t0002g0246	1	361	0.0028	37	c.35 others(48): Show c.3540_*3541insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTC		NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding					3450		chr16	TogoVar
NPSR1_chr7_34653218_34854978	34791121	A A	ATATATAT others(30): Show ATATATATGTTATATATTATATATAATATGTTATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0131 a0003c0007t0002g0131	1	260	0.0039	37	c.384 others(56): Show c.384+12578_384+12614dupATAATATGTTATATATTATATATGTT ATATATTATAT		NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
NPY2R_chr4_155203636_155222076	155204851	C C	CATTCTGT others(30): Show CATTCTGTATACTGGGGCGGGGGGCGGGGAGAGCAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	468	0.0021	37	c.-42 others(48): Show c.-4267_-4266insATTCTGTATACTGGGGCGGGGGGCGGGGAGAGCA GCT		NPY2R	ENSG00000185149.6	transcript	ENST00000329476.4	protein_coding					3784		chr4	TogoVar
NR3C2_chr4_148073764_148447414	148363504	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0153	1	170	0.0059	37	c.175 others(58): Show c.1757+71599_1757+71600insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA		NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8						chr4	TogoVar
NR5A2_chr1_200022710_200182415	200074736	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	286	0.0035	37	c.111 others(58): Show c.1110+25938_1110+25939insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA		NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
NRAP_chr10_113583714_113669041	113647536	T T	TCCCCTGG others(30): Show TCCCCTGGTGGTACTTCCTCCCCTAGTGGTACTGTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp1 HG03516.hp2 HG02451.hp2 HG02976.hp1 HG03516.hp2	a0021 a0027 a0021 a0027	a0021c0072 a0021c0073 a0027c0049 a0021c0072 a0021c0073 a0027c0049	a0021c0072t0001 a0021c0073t0001 a0027c0049t0002 a0021c0072t0001 a0021c0073t0001 a0027c0049t0002	a0021c0072t0001g0271 a0021c0073t0001g0270 a0027c0049t0002g0266 a0021c0072t0001g0271 a0021c0073t0001g0270 a0027c0049t0002g0266	3	398	0.0075	37	c.889 others(52): Show c.889-510_889-509insGAGACAGTACCACTAGGGGAGGAAGTACCA CCAGGGG		NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	9/41						chr10	TogoVar
NRAP_chr10_113583714_113669041	113652517	T T	TGCCTGTA others(30): Show TGCCTGTAGTCCAGCTACTCGGGAGGCTGAGGCAGGAG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0109 a0001c0109	a0001c0109t0001 a0001c0109t0001	a0001c0109t0001g0155 a0001c0109t0001g0155	1	398	0.0025	37	c.570 others(52): Show c.570+381_570+417dupCTCCTGCCTCAGCCTCCCGAGTAGCTGGAC TACAGGC		NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	6/41						chr10	TogoVar
NRBF2_chr10_63128328_63160024	63142780	C C	CTTTCTTT others(30): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0136 a0001c0001t0006g0136	1	392	0.0026	37	c.31- others(52): Show c.31-3426_31-3425insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		NRBF2	ENSG00000148572.16	transcript	ENST00000277746.11	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(30): Show AAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03927.hp2 NA19060.hp2 HG03491.hp2 HG03927.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0014 a0002c0026 a0001c0003 a0001c0014 a0002c0026	a0001c0003t0004 a0001c0014t0009 a0002c0026t0012 a0001c0003t0004 a0001c0014t0009 a0002c0026t0012	a0001c0003t0004g0068 a0001c0014t0009g0066 a0002c0026t0012g0009 a0001c0003t0004g0068 a0001c0014t0009g0066 a0002c0026t0012g0009	3	208	0.0144	37	c.-10 others(58): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTTTT		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32						chr7	TogoVar
NRDE2_chr14_90262860_90336941	90297740	A A	AGAGACCA others(30): Show AGAGACCAGCCTGGCCAACATGGCGACCCTATCTCTAC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0141 a0002c0002t0141	a0002c0002t0141g0057 a0002c0002t0141g0057	1	344	0.0029	37	c.166 others(54): Show c.1666+483_1666+519dupGTAGAGATAGGGTCGCCATGTTGGCCAG GCTGGTCTC		NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	8/13						chr14	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	384	0.0026	37	c.64 others(48): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TAT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding					4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	384	0.0026	37	c.64 others(48): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TAT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding					4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG03579.hp2 HG02056.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0142 a0001c0001t0002g0074 a0001c0001t0001g0142 a0001c0001t0002g0074	2	384	0.0052	37	c.64 others(48): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TAT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding					4605		chr7	TogoVar

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Search Results (Total: 3614 hits)