Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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	a0001c0001t0001g0102 a0001c0001t0001g0102	1	377	0.0027	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	a0001c0001t0005g0115 a0001c0001t0005g0115	1	94	0.0106	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	256	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 a0001c0003t0004g0020 a0001c0001t0001g0050 a0001c0003t0004g0020	2	237	0.0084	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	a0001c0001t0001g0016 a0001c0001t0010g0077 a0002c0002t0001g0040 a0001c0001t0001g0016 a0001c0001t0010g0077 a0002c0002t0001g0040	3	330	0.0091	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 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010	3	387	0.0078	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	a0002c0003t0002g0157 a0002c0003t0002g0157	1	254	0.0039	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	a0001c0001t0001g0161 a0001c0001t0001g0161	1	68	0.0147	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	8	0.1250	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 a0001c0002t0017	a0001c0001t0001g0161 a0001c0001t0041g0100 a0001c0002t0001g0088 others(1): Show a0001c0001t0001g0161 a0001c0001t0041g0100 a0001c0002t0001g0088 a0001c0002t0017g0135	4	11	0.3636	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	a0002 a0037 a0002 a0037	a0002c0005 a0037c0040 a0002c0005 a0037c0040	a0002c0005t0002 a0037c0040t0010 a0002c0005t0002 a0037c0040t0010	a0002c0005t0002g0036 a0002c0005t0002g0065 a0037c0040t0010g0068 a0002c0005t0002g0036 a0002c0005t0002g0065 a0037c0040t0010g0068	3	99	0.0303	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	247	0.0040	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 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0002c0001 a0003c0006 others(1): Show a0001c0003 a0002c0001 a0003c0006 a0005c0010	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(5): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0002c0001t0003 a0003c0006t0001 a0003c0006t0002 a0005c0010t0001	a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0009 others(11): Show a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0032 a0001c0003t0001g0065 a0001c0003t0001g0081 a0001c0003t0002g0109 a0001c0003t0002g0112 a0001c0003t0006g0003 a0001c0003t0007g0004 a0002c0001t0003g0019 a0003c0006t0001g0022 a0003c0006t0002g0110 a0005c0010t0001g0010	14	71	0.1972	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(36): 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	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0004c0005t0001 a0001c0002t0001 a0004c0005t0001	a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(36): Show a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0104 a0004c0005t0001g0050 a0004c0005t0001g0058	39	96	0.4063	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	a0001c0001t0002g0183 a0001c0001t0002g0238 a0001c0001t0002g0183 a0001c0001t0002g0238	2	150	0.0133	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	a0004c0004t0001g0168 a0004c0004t0001g0168	1	340	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 a0009 a0001 a0009	a0001c0061 a0001c0062 a0001c0065 others(1): Show a0001c0061 a0001c0062 a0001c0065 a0009c0025	a0001c0061t0017 a0001c0062t0002 a0001c0065t0002 others(1): Show a0001c0061t0017 a0001c0062t0002 a0001c0065t0002 a0009c0025t0002	a0001c0061t0017g0170 a0001c0062t0002g0169 a0001c0065t0002g0255 others(1): Show a0001c0061t0017g0170 a0001c0062t0002g0169 a0001c0065t0002g0255 a0009c0025t0002g0039	5	326	0.0153	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	a0001c0001t0001g0195 a0004c0004t0004g0116 a0001c0001t0001g0195 a0004c0004t0004g0116	2	424	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	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0219 a0001c0001t0011g0219	1	77	0.0130	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	a0001c0001t0001g0139 a0001c0001t0001g0139	1	358	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	a0001c0001t0001g0055 a0001c0001t0001g0055	1	84	0.0119	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	a0003c0005t0002g0017 a0003c0005t0002g0017	1	89	0.0112	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	117	0.0085	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	117	0.0085	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	34	0.0294	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	299	0.0033	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	a0001c0001t0002g0292 a0001c0001t0002g0292	1	40	0.0250	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	a0001c0004t0001g0007 a0001c0004t0001g0007	1	316	0.0032	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 a0014 a0003 a0013 a0014	a0003c0004 a0013c0028 a0014c0050 a0003c0004 a0013c0028 a0014c0050	a0003c0004t0002 a0013c0028t0004 a0014c0050t0002 a0003c0004t0002 a0013c0028t0004 a0014c0050t0002	a0003c0004t0002g0268 a0013c0028t0004g0129 a0014c0050t0002g0290 a0003c0004t0002g0268 a0013c0028t0004g0129 a0014c0050t0002g0290	3	278	0.0108	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	a0001c0002t0002g0287 a0001c0002t0002g0292 a0001c0002t0002g0287 a0001c0002t0002g0292	2	431	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 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0001c0002t0026 a0002c0003t0002 a0001c0002t0002 a0001c0002t0026 a0002c0003t0002	a0001c0002t0002g0279 a0001c0002t0026g0247 a0002c0003t0002g0249 a0001c0002t0002g0279 a0001c0002t0026g0247 a0002c0003t0002g0249	3	184	0.0163	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	a0001c0002t0002g0293 a0001c0002t0002g0293	1	423	0.0024	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	a0009c0043t0001g0209 a0009c0043t0001g0209	1	237	0.0042	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	a0044 a0052 a0054 a0044 a0052 a0054	a0044c0102 a0052c0037 a0054c0105 a0044c0102 a0052c0037 a0054c0105	a0044c0102t0002 a0052c0037t0001 a0054c0105t0001 a0044c0102t0002 a0052c0037t0001 a0054c0105t0001	a0044c0102t0002g0019 a0052c0037t0001g0230 a0054c0105t0001g0239 a0044c0102t0002g0019 a0052c0037t0001g0230 a0054c0105t0001g0239	3	239	0.0126	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	a0009c0043t0001g0209 a0009c0043t0001g0209	1	244	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	a0001c0002t0001g0288 a0001c0002t0001g0288	1	78	0.0128	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	a0001c0001t0006g0013 a0001c0001t0006g0040 a0001c0001t0006g0330 others(9): Show a0001c0001t0006g0013 a0001c0001t0006g0040 a0001c0001t0006g0330 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0006g0333 a0001c0001t0006g0334 a0001c0001t0006g0335 a0001c0001t0006g0336 a0001c0001t0006g0337 a0001c0001t0006g0338 a0001c0001t0006g0339	15	380	0.0395	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	a0001c0001t0001g0084 a0001c0001t0001g0127 a0001c0001t0001g0129 others(2): Show a0001c0001t0001g0084 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0141	5	291	0.0172	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	a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0042 others(5): Show a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0007g0048	9	217	0.0415	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	a0001c0001t0006g0338 a0001c0001t0006g0338	1	100	0.0100	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	a0001c0001t0002g0310 a0001c0001t0002g0310	1	312	0.0032	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	a0001c0001t0006g0338 a0001c0001t0006g0338	1	128	0.0078	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	a0001c0001t0002g0307 a0001c0001t0002g0307	1	344	0.0029	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	a0001c0001t0001g0192 a0001c0001t0003g0179 a0001c0001t0001g0192 a0001c0001t0003g0179	2	390	0.0051	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	a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0162 a0001c0001t0003g0164	2	394	0.0051	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	a0001c0001t0001g0086 a0001c0001t0001g0086	1	393	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	a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0001t0001g0055	4	396	0.0101	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	a0001c0001t0002g0310 a0001c0001t0002g0310	1	86	0.0116	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	a0001c0001t0002g0011 a0001c0001t0002g0039 a0001c0001t0002g0011 a0001c0001t0002g0039	2	239	0.0084	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	a0001c0001t0001g0137 a0001c0001t0001g0137	1	321	0.0031	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