Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDNF_chr10_14814245_14843037	14826014	C C	CAGAAGCA others(32): Show CAGAAGCAGAAGAAGAAGAAGGAGAAGGAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	418	0.0024	39	c.244 others(54): Show c.244-395_244-394insTCTTCTTCTTCTCCTTCTCCTTCTTCTTCT TCTGCTTCT	CDNF	ENSG00000185267.10	transcript	ENST00000465530.2	protein_coding	2/3			chr10	TogoVar
CDV3_chr3_133568686_133595261	133576841	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0116 a0001c0001t0005g0116	1	386	0.0026	39	c.317 others(56): Show c.317+1749_317+1750insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	CDV3	ENSG00000091527.17	transcript	ENST00000264993.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDYL2_chr16_80592907_80809598	80759112	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATGGTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0234 a0001c0002t0051g0234	1	258	0.0039	39	c.24+ others(56): Show c.24+45037_24+45038insAACCATATATATATATATATATATATAT ATATATATATA	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6			chr16	TogoVar
CDYL_chr6_4771404_4960544	4809677	T T	TTTTGTAT others(32): Show TTTTGTATGGTAGGGGTATTATATTAGTCCTTGGCGATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18941.hp1 HG02486.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0050 a0001c0003t0004g0008 a0001c0001t0001g0050 a0001c0003t0004g0008	2	250	0.0080	39	c.24+ others(56): Show c.24+33104_24+33142dupCTTTGTATGGTAGGGGTATTATATTAGT CCTTGGCGATA	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM19_chr19_44666482_44689355	44668559	T T	TACACATA others(32): Show TACACATATTATATATGTATATAATTATATAATTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03540.hp2 NA20300.hp2 HG02818.hp1 HG03540.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0002c0002t0001 a0001c0001t0001 a0001c0001t0010 a0002c0002t0001	a0001c0001t0001g0017 a0001c0001t0010g0082 a0002c0002t0001g0042 a0001c0001t0001g0017 a0001c0001t0010g0082 a0002c0002t0001g0042	3	390	0.0077	39	c.-33 others(50): Show c.-3373_-3372insACACATATTATATATGTATATAATTATATAATTA TATAC	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		2922		chr19	TogoVar
CEACAM19_chr19_44666482_44689355	44668561	C C	CATATATA others(32): Show CATATATAATATGTGTATATAATTATATAATTATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03710.hp1 HG04115.hp1 HG03688.hp2 HG03710.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013	3	390	0.0077	39	c.-33 others(50): Show c.-3371_-3370insATATATAATATGTGTATATAATTATATAATTATA TACAT	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		2920		chr19	TogoVar
CEACAM1_chr19_42502306_42533481	42513915	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATAATAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0158 a0002c0003t0002g0158	1	290	0.0035	39	c.124 others(58): Show c.1247-1437_1247-1436insTTATTATATATATATATATATATATA TATATATATATAT	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8			chr19	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	340	0.0029	39	c.72- others(52): Show c.72-912_72-911insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0020 a0001c0002t0051g0020	1	194	0.0052	39	c.272 others(58): Show c.272-20398_272-20397insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAGGAAAGAA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAGGAAGG others(32): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG01074.hp1 others(1): Show HG00280.hp2 HG00642.hp2 HG01074.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0041 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0041 a0001c0002t0001 a0001c0002t0018	a0001c0001t0001g0161 a0001c0001t0041g0100 a0001c0002t0001g0088 others(1): Show a0001c0001t0001g0161 a0001c0001t0041g0100 a0001c0002t0001g0088 a0001c0002t0018g0135	4	194	0.0206	39	c.272 others(58): Show c.272-20399_272-20398insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAAGA	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CELSR1_chr22_46356174_46542620	46366053	A A	AAAGGTGG others(32): Show AAAGGTGGAGGGGGAAGGTGGAGGGGAAAGGTGGAGGGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG06807.hp2 NA20805.hp2 HG01106.hp1 HG06807.hp2 NA20805.hp2	a0003 a0019 a0003 a0019	a0003c0005 a0019c0041 a0003c0005 a0019c0041	a0003c0005t0002 a0019c0041t0010 a0003c0005t0002 a0019c0041t0010	a0003c0005t0002g0036 a0003c0005t0002g0065 a0019c0041t0010g0068 a0003c0005t0002g0036 a0003c0005t0002g0065 a0019c0041t0010g0068	3	104	0.0289	39	c.830 others(56): Show c.8300+332_8300+333insCCCCCTCCACCTTTCCCCTCCACCTTCC CCCTCCACCTT	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CEMIP_chr15_80774370_80956771	80900679	T T	TGTGTGTG others(32): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0245 a0001c0003t0011g0245	1	254	0.0039	39	c.141 others(58): Show c.1411+4619_1411+4620insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTG	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29			chr15	TogoVar
CEP112_chr17_65630537_66197133	65937260	T T	TCTCTGCC others(32): Show TCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp2 HG02027.hp2 others(11): Show HG01109.hp2 HG01346.hp2 HG02027.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp2 NA18985.hp2 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0003 a0002c0001 a0004c0006 others(1): Show a0001c0003 a0002c0001 a0004c0006 a0006c0010	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(5): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0002c0001t0003 a0004c0006t0001 a0004c0006t0002 a0006c0010t0001	a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0009 others(11): Show a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0009 a0001c0003t0001g0033 a0001c0003t0001g0062 a0001c0003t0001g0074 a0001c0003t0002g0109 a0001c0003t0002g0112 a0001c0003t0006g0003 a0001c0003t0007g0004 a0002c0001t0003g0019 a0004c0006t0001g0022 a0004c0006t0002g0110 a0006c0010t0001g0010	14	112	0.1250	39	c.187 others(58): Show c.1873-9572_1873-9571insGGGCTCCTCACATCCCAGACGATGGG CGGCCAGGCAGAG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
CEP112_chr17_65630537_66197133	65937260	T T	TCTCTGCC others(32): Show TCTCTGCCTGGCCGCCCATCTTCTGGGATGTGAGGAGCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00642.hp2 others(37): Show HG00280.hp1 HG00438.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01517.hp1 HG02027.hp1 HG02055.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18983.hp2 NA18986.hp2 NA19002.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(37): Show a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0103 a0003c0005t0001g0048 a0003c0005t0001g0055	40	112	0.3571	39	c.187 others(58): Show c.1873-9572_1873-9571insGGGCTCCTCACATCCCAGAAGATGGG CGGCCAGGCAGAG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101938159	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18967.hp2 HG01192.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0295 a0001c0001t0002g0247 a0001c0001t0002g0295	2	336	0.0060	39	c.249 others(56): Show c.249-6089_249-6088insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP152_chr15_48732938_48816069	48816027	C C	CAGGCAAC others(32): Show CAGGCAACATGGCGAAACCCCGTCTCTACCAAAAATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0170 a0004c0004t0001g0170	1	342	0.0029	39	c.-50 others(50): Show c.-5075_-5074insTTATATTTTTGGTAGAGACGGGGTTTCGCCATGT TGCCT	CEP152	ENSG00000103995.14	transcript	ENST00000380950.7	protein_coding		4959		chr15	TogoVar
CEP170B_chr14_104860268_104901747	104861894	T T	TCCACCGT others(32): Show TCCACCGTCTGTGTCCACCGTCCATCACCACCCTCTGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG03195.hp2 HG03453.hp2 others(2): Show HG01496.hp2 HG03195.hp2 HG03453.hp2 HG06807.hp2 NA19043.hp2	a0001 a0010 a0001 a0010	a0001c0061 a0001c0062 a0001c0065 others(1): Show a0001c0061 a0001c0062 a0001c0065 a0010c0025	a0001c0061t0017 a0001c0062t0002 a0001c0065t0002 others(1): Show a0001c0061t0017 a0001c0062t0002 a0001c0065t0002 a0010c0025t0002	a0001c0061t0017g0178 a0001c0062t0002g0177 a0001c0065t0002g0268 others(2): Show a0001c0061t0017g0178 a0001c0062t0002g0177 a0001c0065t0002g0268 a0010c0025t0002g0269 a0010c0025t0002g0270	5	328	0.0152	39	c.-36 others(50): Show c.-3647_-3646insCCACCGTCTGTGTCCACCGTCCATCACCACCCTC TGTCC	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding		3373		chr14	TogoVar
CEP295NL_chr17_78885579_78908201	78904108	T T	TGTGTGTG others(32): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG04228.hp2 HG02647.hp1 HG04228.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0004 a0001c0001t0001 a0004c0004t0004	a0001c0001t0001g0197 a0004c0004t0004g0117 a0001c0001t0001g0197 a0004c0004t0004g0117	2	430	0.0047	39	c.-10 others(50): Show c.-1074_-1073insCACACACACACACACACACACACACACACACACA CACAC	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding		908		chr17	TogoVar
CEP57L1_chr6_109090507_109179418	109125524	A A	ATACATAT others(32): Show ATACATATATATATATATATATACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0219 a0001c0001t0012g0219	1	228	0.0044	39	c.-3- others(56): Show c.-3-19694_-3-19693insACATATATATATATATATATACACATAT ATATATATATT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP68_chr2_65051416_65092004	65090177	T T	TTTTTTCT others(32): Show TTTTTTCTCTGCTATAATATCTAATCTTATACTTCATCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	360	0.0028	39	c.65 others(50): Show c.6543_*6544insTTTTTCTCTGCTATAATATCTAATCTTATACTTC ATCAA	CEP68	ENSG00000011523.15	transcript	ENST00000377990.7	protein_coding		3174		chr2	TogoVar
CEP72_chr5_607340_658553	632450	T T	TGCCGGGA others(32): Show TGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	91	0.0110	39	c.513 others(56): Show c.513-1241_513-1203dupCGCCGGGATTTGGCCCAGTCCTGGTGGG GTTCTGTCCAG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	632853	A A	ACCAGTCC others(32): Show ACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0014 a0003c0005t0002g0014	1	91	0.0110	39	c.513 others(54): Show c.513-878_513-877insCCCAGTCCTGGTGGGGTTCTGTCCAGTGCC GGGATTTGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GGGGGGGG others(32): Show GGGGGGGGGGGGGGGGGGGGGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	302	0.0033	39	c.232 others(58): Show c.232+32152_232+32153insACACACACACACACACACACCCCCCC CCCCCCCCCCCCC	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118600300	G G	GTGTGTGT others(32): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0054 a0004c0004t0006g0054	1	302	0.0033	39	c.232 others(58): Show c.232+32152_232+32153insACACACACACACACACACACACACAC ACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CERKL_chr2_181531672_181662105	181609533	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0115 a0002c0003t0004g0115	1	298	0.0034	39	c.239 others(56): Show c.239-5455_239-5454insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS3_chr15_100395395_100533950	100466811	C C	CTCCCTCT others(32): Show CTCCCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	362	0.0028	39	c.845 others(56): Show c.845+2566_845+2567insAGAAAGAGAGAAAGAGAGAAAGAGAGAG AGAGAGAGGGA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8231851	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	418	0.0024	39	c.-1- others(56): Show c.-1-19203_-1-19202insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS5_chr12_50124289_50172369	50156438	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	320	0.0031	39	c.197 others(58): Show c.197+10662_197+10663insATATATATATATATATATATATATAT ATATATATATATA	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(32): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp1 HG02970.hp1 HG02615.hp1 HG02818.hp1 HG02970.hp1	a0003 a0013 a0016 a0003 a0013 a0016	a0003c0004 a0013c0050 a0016c0028 a0003c0004 a0013c0050 a0016c0028	a0003c0004t0002 a0013c0050t0002 a0016c0028t0004 a0003c0004t0002 a0013c0050t0002 a0016c0028t0004	a0003c0004t0002g0269 a0013c0050t0002g0291 a0016c0028t0004g0129 a0003c0004t0002g0269 a0013c0050t0002g0291 a0016c0028t0004g0129	3	449	0.0067	39	c.112 others(58): Show c.1126-1504_1126-1503insAAAAAAAAAAAGAAAAAAAAAAAAGA AAGAAAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP410_chr21_44323944_44344390	44334492	C C	CCTCAACC others(32): Show CCTCAACCTCTGGGCGGGCACGCGCACCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp2 HG02630.hp1 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0295 a0001c0002t0002g0299 a0001c0002t0002g0295 a0001c0002t0002g0299	2	436	0.0046	39	c.144 others(56): Show c.144-1231_144-1230insCGGGGGGGGGGGGGTGCGCGTGCCCGCC CAGAGGTTGAG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(32): Show ACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCCCCCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01993.hp1 HG02486.hp1 HG00609.hp2 HG01993.hp1 HG02486.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0002 a0001c0002t0026 a0003c0003t0002 a0001c0002t0002 a0001c0002t0026 a0003c0003t0002	a0001c0002t0002g0287 a0001c0002t0026g0254 a0003c0003t0002g0257 a0001c0002t0002g0287 a0001c0002t0026g0254 a0003c0003t0002g0257	3	436	0.0069	39	c.143 others(56): Show c.143+1240_143+1241insGGGGGGGGTGCGCGTGCCCGCCCAGAGG TTGAGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334518	C C	CCCCCCCC others(32): Show CCCCCCCCCCCCCCGCTCAACCTCTGGGCGGGCACGCGCA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0300 a0001c0002t0002g0300	1	436	0.0023	39	c.143 others(56): Show c.143+1239_143+1240insTGCGCGTGCCCGCCCAGAGGTTGAGCGG GGGGGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP46_chr10_132803392_132947570	132822640	C C	CTGTGCGC others(32): Show CTGTGCGCTGTGTGCTGTGTGAGCGCTGATGTGTGCTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0043 a0009c0043	a0009c0043t0001 a0009c0043t0001	a0009c0043t0001g0155 a0009c0043t0001g0155	1	246	0.0041	39	c.711 others(58): Show c.7118-7727_7118-7726insCACAGCACACATCAGCGCTCACACAG CACACAGCGCACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132822640	C C	CTGTGCGC others(32): Show CTGTGCGCTGTGTGCTGTGTGAGTGCTGATGTGTGCTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp1 HG03017.hp1 HG02109.hp2 HG02886.hp1 HG03017.hp1	a0038 a0051 a0065 a0038 a0051 a0065	a0038c0037 a0051c0105 a0065c0102 a0038c0037 a0051c0105 a0065c0102	a0038c0037t0001 a0051c0105t0001 a0065c0102t0002 a0038c0037t0001 a0051c0105t0001 a0065c0102t0002	a0038c0037t0001g0230 a0051c0105t0001g0239 a0065c0102t0002g0018 a0038c0037t0001g0230 a0051c0105t0001g0239 a0065c0102t0002g0018	3	246	0.0122	39	c.711 others(58): Show c.7118-7727_7118-7726insCACAGCACACATCAGCACTCACACAG CACACAGCGCACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132923357	T T	TGGGGGTG others(32): Show TGGGGGTGCCCTGGAACCCCTGGCCTCGAGCAGCCATGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0043 a0009c0043	a0009c0043t0001 a0009c0043t0001	a0009c0043t0001g0155 a0009c0043t0001g0155	1	246	0.0041	39	c.125 others(56): Show c.1257-650_1257-649insCACATGGCTGCTCGAGGCCAGGGGTTCC AGGGCACCCCC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	11/57			chr10	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(32): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0289 a0001c0002t0001g0289	1	316	0.0032	39	c.117 others(58): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAGAGAGAGAGA GAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP97D2_chr13_114174257_114228085	114198619	T T	TGGTCCCC others(32): Show TGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGTGTAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01361.hp2 HG01993.hp1 others(12): Show HG00642.hp2 HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02273.hp1 HG02273.hp2 HG03834.hp1 NA18954.hp1 NA18992.hp2 NA18999.hp2 NA19063.hp1 NA19074.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0033 a0001c0001t0006g0340 others(9): Show a0001c0001t0006g0010 a0001c0001t0006g0033 a0001c0001t0006g0340 a0001c0001t0006g0341 a0001c0001t0006g0342 a0001c0001t0006g0343 a0001c0001t0006g0344 a0001c0001t0006g0345 a0001c0001t0006g0346 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0006g0349	15	400	0.0375	39	c.172 others(56): Show c.172-1692_172-1691insCGTGACGGCGCGTCCCCGTGTGTACGGT CCCCGCTGAGG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198666	G G	GCTGAGGG others(32): Show GCTGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCCCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01258.hp2 HG01516.hp2 others(2): Show HG01243.hp1 HG01258.hp2 HG01516.hp2 HG02809.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0122 a0001c0001t0001g0124 others(2): Show a0001c0001t0001g0077 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0137	5	400	0.0125	39	c.172 others(56): Show c.172-1653_172-1652insGGTGACGGCGCGTCCCCGTGGGTACGGT CCCCACTGAGG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198693	C C	CTTACGGT others(32): Show CTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01070.hp2 HG01071.hp2 others(6): Show HG00735.hp2 HG01070.hp2 HG01071.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG03130.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 others(5): Show a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0007g0041	9	400	0.0225	39	c.172 others(56): Show c.172-1632_172-1631insTTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGT	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198900	A A	ACTGAGGC others(32): Show ACTGAGGCGTGACGCCGCGTCCCCGTGTGTACGGTCCCCG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0347 a0001c0001t0006g0347	1	400	0.0025	39	c.172 others(56): Show c.172-1424_172-1423insTGAGGCGTGACGCCGCGTCCCCGTGTGT ACGGTCCCCGC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198980	T T	TGAGGCGT others(32): Show TGAGGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	400	0.0025	39	c.172 others(56): Show c.172-1335_172-1334insGGCGCGTCCCCGTGTGTACGGTCCCCGC CGAGGCGTGAC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199005	T T	CTTACGGT others(32): Show CTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0347 a0001c0001t0006g0347	1	400	0.0025	39	c.172 others(56): Show c.172-1321_172-1320insCTTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199136	T T	TGAGGCGT others(32): Show TGAGGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	400	0.0025	39	c.172 others(56): Show c.172-1125_172-1087dupTGTACGGTCCCCGCCGAGGCGTGACGGC GCGTCCCCGTG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199235	C C	CGTGCTTA others(32): Show CGTGCTTACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG04115.hp2 HG02080.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0188 a0001c0001t0003g0175 a0001c0001t0001g0188 a0001c0001t0003g0175	2	400	0.0050	39	c.172 others(56): Show c.172-1087_172-1086insCTTACGGTCCCCGCTGAGGGGTGACAGT GGGTCCCTGTG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199313	C C	CGTGCTTA others(32): Show CGTGCTTACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19000.hp1 NA18977.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0162 a0001c0001t0003g0158 a0001c0001t0003g0162	2	400	0.0050	39	c.172 others(56): Show c.172-1009_172-1008insCTTACGGTCCCCGCTGAGGGGTGACAGT GGGTCCCTGTG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199391	C C	CGTGCTTA others(32): Show CGTGCTTACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	400	0.0025	39	c.172 others(54): Show c.172-931_172-930insCTTACGGTCCCCGCTGAGGGGTGACAGTGG GTCCCTGTG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199593	A A	ACGGTCCC others(32): Show ACGGTCCCCGCTGAGGGGTGACAGTGGGTCCCTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02109.hp2 HG02922.hp1 others(1): Show HG01496.hp2 HG02109.hp2 HG02922.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0011 a0001c0001t0001g0044 a0001c0001t0001g0048	4	400	0.0100	39	c.172 others(54): Show c.172-717_172-716insGGTGACAGTGGGTCCCTGTGTGTTCGGTCC CCGCTGAGG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199669	T T	TTACGGTC others(32): Show TTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	400	0.0025	39	c.172 others(54): Show c.172-639_172-638insGGTGACGGCGCGTCCCCGTGCGTACGGTCC CCGCTGAGG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199765	G G	GGTGACGG others(32): Show GGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGC	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA18962.hp1 HG01928.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0339 a0001c0001t0002g0278 a0001c0001t0002g0339	2	400	0.0050	39	c.172 others(54): Show c.172-527_172-489dupCTGAGGCGTGACGGCGCGTCCCCGTGCGTA CGGTCCCCG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199851	C C	CGCGTCCC others(32): Show CGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	400	0.0025	39	c.172 others(54): Show c.172-462_172-461insGTACGGTCCCCGCTGAGGCGTGACGGGGCG TCCCCGTGC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar

Search by Variant

Search

Search Results (Total: 3425 hits)