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
CERS6_chr2_168451272_168780134	168645134	TATATATA others(3): Show TATATATATAG	T T	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0156 a0001c0001t0035g0156	1	176	0.0057	-10	c.465 others(29): Show c.465+14094_465+14103delTATATATAGA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168645136	TATATATA others(3): Show TATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	176	0.0057	-10	c.465 others(29): Show c.465+14096_465+14105delTATATAGAGA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168645138	TATATAGA others(3): Show TATATAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03239.hp1 HG02602.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0096 a0001c0001t0001g0027 a0001c0001t0001g0096	2	176	0.0114	-10	c.465 others(29): Show c.465+14098_465+14107delTATAGAGAGA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168645140	TATAGAGA others(3): Show TATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA20905.hp1 HG02293.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0139 a0001c0001t0002g0028 a0001c0001t0001g0139 a0001c0001t0002g0028	2	176	0.0114	-10	c.465 others(29): Show c.465+14100_465+14109delTAGAGAGAGA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168645142	TAGAGAGA others(3): Show TAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02896.hp2 others(3): Show HG02486.hp1 HG02572.hp1 HG02896.hp2 HG03225.hp1 NA19043.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0002t0028	a0001c0001t0001g0130 a0001c0001t0001g0173 a0001c0001t0006g0034 others(3): Show a0001c0001t0001g0130 a0001c0001t0001g0173 a0001c0001t0006g0034 a0001c0001t0007g0051 a0001c0001t0017g0162 a0001c0002t0028g0075	6	176	0.0341	-10	c.465 others(29): Show c.465+14139_465+14148delAGAGAGAGAG	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168665952	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02071.hp1 HG02132.hp2 others(11): Show HG01074.hp2 HG02071.hp1 HG02132.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG02896.hp2 HG03139.hp1 HG03579.hp2 NA18968.hp1 NA18977.hp2 NA19076.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0002t0022	a0001c0001t0001g0098 a0001c0001t0001g0143 a0001c0001t0001g0173 others(11): Show a0001c0001t0001g0098 a0001c0001t0001g0143 a0001c0001t0001g0173 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0141 a0001c0001t0003g0095 a0001c0001t0011g0042 a0001c0001t0011g0069 a0001c0001t0017g0162 a0001c0001t0019g0163 a0001c0001t0020g0164 a0001c0001t0027g0122 a0001c0002t0022g0073	14	176	0.0796	-10	c.466 others(29): Show c.466-25052_466-25043delGTGTGTGTGT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168739052	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0135	1	176	0.0057	-10	c.845 others(29): Show c.845+21094_845+21103delTTTTTTTTTT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168746775	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02922.hp1 HG01255.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0126 a0001c0001t0013g0174 a0001c0001t0013g0126 a0001c0001t0013g0174	2	176	0.0114	-10	c.846 others(29): Show c.846-18780_846-18771delTATATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168746812	TATATATA others(3): Show TATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA20905.hp1 HG01261.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0028 a0001c0001t0005g0020 a0001c0001t0002g0028 a0001c0001t0005g0020	2	176	0.0114	-10	c.846 others(29): Show c.846-18778_846-18769delTATATATAAA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERT1_chr5_75372775_75516629	75387458	CAGGCCAG others(3): Show CAGGCCAGGCG	C C	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	336	0.0030	-10	c.128 others(29): Show c.1285-1434_1285-1425delCGCCTGGCCT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	12/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75388599	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01934.hp1 HG01943.hp1 others(21): Show HG01515.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02293.hp1 HG02300.hp1 HG02723.hp2 HG03834.hp1 HG06807.hp1 NA18959.hp2 NA18965.hp2 NA18968.hp2 NA18985.hp2 NA18992.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp2 NA19006.hp2 NA19056.hp2 NA19064.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016	a0001c0001t0002g0127 a0001c0001t0002g0136 a0001c0001t0002g0138 others(21): Show a0001c0001t0002g0127 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0008g0266 a0001c0001t0008g0267 a0001c0001t0008g0309 a0001c0001t0011g0158 a0001c0001t0011g0161 a0001c0001t0012g0240 a0001c0001t0012g0241 a0001c0001t0016g0263	24	336	0.0714	-10	c.128 others(27): Show c.1284+983_1284+992delATATATATAT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	12/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75395555	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	336	0.0030	-10	c.118 others(29): Show c.1188+3745_1188+3754delTTTTTTTTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75485312	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	336	0.0030	-10	c.231 others(29): Show c.231+20660_231+20669delTTTTTTTTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75509563	TTTTTTAT others(3): Show TTTTTTATCTA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	336	0.0030	-10	c.96+ others(25): Show c.96+1539_96+1548delTAGATAAAAA	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	1/16			chr5	TogoVar
CES4A_chr16_66983589_67015417	66990992	ACTTTTCT others(3): Show ACTTTTCTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0052	1	306	0.0033	-10	c.58+ others(25): Show c.58+2183_58+2192delCTTTTCTTTT	CES4A	ENSG00000172824.17	transcript	ENST00000648724.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CES4A_chr16_66983589_67015417	66997948	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02040.hp1 HG02523.hp1 others(10): Show HG00280.hp1 HG02040.hp1 HG02523.hp1 HG02615.hp2 HG02886.hp1 HG02895.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp2 HG03927.hp2 HG03942.hp1 NA18948.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0002c0005 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0005t0006 a0003c0003t0001	a0001c0001t0001g0030 a0001c0001t0001g0070 a0001c0001t0001g0073 others(8): Show a0001c0001t0001g0030 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0001g0101 a0002c0002t0001g0117 a0002c0002t0002g0154 a0002c0004t0001g0181 a0002c0005t0006g0020 a0003c0003t0001g0120	13	306	0.0425	-10	c.260 others(27): Show c.260+2161_260+2170delCACACACACA	CES4A	ENSG00000172824.17	transcript	ENST00000648724.3	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CES5A_chr16_55841154_55880373	55857904	GGGAGAGC others(3): Show GGGAGAGCCTA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0086 a0003c0004t0004g0086	1	449	0.0022	-10	c.105 others(29): Show c.1057-1469_1057-1460delTAGGCTCTCC	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	8/12			chr16	TogoVar
CETN1_chr18_575380_587114	576444	GAGAGGAA others(3): Show GAGAGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02965.hp1 HG03453.hp2 HG02257.hp1 HG02965.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0010g0000 a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0010g0000	3	422	0.0071	-10	c.-39 others(21): Show c.-3964_-3955delAGAGGAAGGA	CETN1	ENSG00000177143.5	transcript	ENST00000327228.5	protein_coding		3935		chr18	TogoVar
CETP_chr16_56956950_56988845	56959938	GGAAAGAA others(3): Show GGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	462	0.0022	-10	c.-20 others(21): Show c.-2041_-2032delGAAAGAAAGA	CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding		2011		chr16	TogoVar
CFAP100_chr3_126389909_126441556	126401397	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01175.hp2 HG02109.hp1 others(1): Show HG00738.hp2 HG01175.hp2 HG02109.hp1 HG04228.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0002t0001 a0004c0007t0001 a0001c0001t0001 a0001c0002t0001 a0004c0007t0001	a0001c0001t0001g0052 a0001c0001t0001g0185 a0001c0002t0001g0083 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0185 a0001c0002t0001g0083 a0004c0007t0001g0045	4	422	0.0095	-10	c.49+ others(25): Show c.49+5385_49+5394delTATATATATA	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP100_chr3_126389909_126441556	126429107	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	422	0.0024	-10	c.128 others(29): Show c.1287-3944_1287-3935delAAAAAAAAAA	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP141_chr1_154194085_154211333	154203172	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01515.hp2 HG01517.hp1 others(10): Show HG01243.hp2 HG01515.hp2 HG01517.hp1 HG02015.hp1 HG02257.hp1 HG02735.hp2 HG04199.hp2 NA18612.hp1 NA18957.hp2 NA18984.hp1 NA19055.hp2 NA19057.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0075 others(3): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0130	13	372	0.0350	-10	c.74+ others(25): Show c.74+2416_74+2425delATATATATAT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar
CFAP161_chr15_81129270_81154179	81133176	CATATATA others(3): Show CATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02486.hp1 NA18991.hp1 HG00558.hp1 HG02486.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0132 a0001c0001t0001g0212 a0001c0001t0001g0213	3	448	0.0067	-10	c.-11 others(21): Show c.-1153_-1144delATATATATAT	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1093		chr15	TogoVar
CFAP161_chr15_81129270_81154179	81133215	ATATATAT others(3): Show ATATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00438.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0094 a0001c0001t0001g0037 a0001c0001t0001g0094	2	448	0.0045	-10	c.-11 others(21): Show c.-1114_-1105delTATATATATG	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1054		chr15	TogoVar
CFAP161_chr15_81129270_81154179	81133219	ATATATGT others(3): Show ATATATGTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01256.hp1 others(1): Show HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0147 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0147	4	448	0.0089	-10	c.-11 others(21): Show c.-1110_-1101delTATATGTATT	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1050		chr15	TogoVar
CFAP161_chr15_81129270_81154179	81143309	TCAAAACA others(3): Show TCAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 NA18747.hp2 others(7): Show HG00438.hp1 HG00621.hp1 NA18747.hp2 NA18943.hp2 NA18961.hp2 NA18967.hp2 NA18982.hp2 NA18987.hp1 NA18992.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0138 others(5): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0138 a0001c0001t0001g0185 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205	10	448	0.0223	-10	c.478 others(25): Show c.478-333_478-324delACAAAACAAA	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
CFAP161_chr15_81129270_81154179	81146831	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02083.hp1 HG02135.hp2 others(8): Show HG01255.hp1 HG02083.hp1 HG02135.hp2 HG02155.hp1 HG02647.hp1 HG03225.hp1 NA18939.hp2 NA18942.hp2 NA18947.hp2 NA18973.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0001t0001g0121 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0197 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0003t0001g0066	11	448	0.0246	-10	c.637 others(25): Show c.637-984_637-975delATATATATAT	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
CFAP206_chr6_87402972_87469465	87429929	GTAAGCAA others(3): Show GTAAGCAAATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp1 HG01884.hp2 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0260 a0002c0002t0002g0258 a0002c0002t0001g0260 a0002c0002t0002g0258	2	376	0.0053	-10	c.116 others(29): Show c.1160-1102_1160-1093delAAGCAAATAT	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP206_chr6_87402972_87469465	87450475	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20129.hp1 HG02145.hp2 NA20129.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0256 a0008c0010t0001g0257 a0008c0010t0001g0256 a0008c0010t0001g0257	2	376	0.0053	-10	c.149 others(31): Show c.1495-10517_1495-10508delGTGTGTGTGT	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP20DC_chr3_58737008_59055025	58799733	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03486.hp2 NA21309.hp1 HG01891.hp2 HG03486.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0012 a0003c0004 a0001c0012 a0003c0004	a0001c0012t0002 a0003c0004t0001 a0001c0012t0002 a0003c0004t0001	a0001c0012t0002g0157 a0003c0004t0001g0159 a0003c0004t0001g0163 a0001c0012t0002g0157 a0003c0004t0001g0159 a0003c0004t0001g0163	3	204	0.0147	-10	c.223 others(29): Show c.2237+6652_2237+6661delCACACACACA	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58870894	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	204	0.0049	-10	c.716 others(25): Show c.716-595_716-586delTTTTTTTTTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	7/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58963190	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18906.hp1 HG00408.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0123 a0001c0001t0001g0060 a0001c0001t0001g0123	2	204	0.0098	-10	c.279 others(29): Show c.279-25438_279-25429delCACACACACA	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	4/16			chr3	TogoVar
CFAP20_chr16_58108592_58134381	58123462	GGCGGGCG others(3): Show GGCGGGCGCCT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	400	0.0025	-10	c.84+ others(25): Show c.84+5560_84+5569delAGGCGCCCGC	CFAP20	ENSG00000070761.8	transcript	ENST00000262498.8	protein_coding	1/5			chr16	TogoVar
CFAP20_chr16_58108592_58134381	58123595	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	400	0.0025	-10	c.84+ others(25): Show c.84+5427_84+5436delTTTTTTTTTT	CFAP20	ENSG00000070761.8	transcript	ENST00000262498.8	protein_coding	1/5			chr16	TogoVar
CFAP210_chr2_169640425_169699405	169648162	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00609.hp2 others(23): Show HG00140.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG02080.hp1 HG02135.hp2 HG02698.hp1 HG03017.hp2 HG03491.hp2 NA18747.hp1 NA18952.hp1 NA18981.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19001.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19062.hp1 NA19066.hp2 NA19074.hp2 NA19082.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0067 a0002c0002t0002g0068 others(22): Show a0002c0002t0002g0009 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090	26	390	0.0667	-10	c.131 others(29): Show c.1317+1010_1317+1019delTTTTTTTTTT	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	8/8			chr2	TogoVar
CFAP210_chr2_169640425_169699405	169650734	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00733.hp1 others(23): Show HG00438.hp1 HG00621.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01346.hp2 HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02523.hp2 HG02735.hp2 HG02886.hp1 HG03669.hp2 HG03831.hp2 NA18946.hp2 NA18965.hp2 NA19002.hp1 NA19006.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0014 a0001c0001 a0011c0014	a0001c0001t0003 a0011c0014t0003 a0001c0001t0003 a0011c0014t0003	a0001c0001t0003g0092 a0001c0001t0003g0103 a0001c0001t0003g0104 others(23): Show a0001c0001t0003g0092 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0011c0014t0003g0093	26	390	0.0667	-10	c.960 others(25): Show c.960-223_960-214delCACACACACA	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8			chr2	TogoVar
CFAP210_chr2_169640425_169699405	169653025	AAAAAATA others(3): Show AAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0134 a0001c0008t0001g0134	1	390	0.0026	-10	c.959 others(27): Show c.959+1040_959+1049delATATATTTTT	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8			chr2	TogoVar
CFAP210_chr2_169640425_169699405	169653027	AAAATATA others(3): Show AAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA20129.hp2 HG02647.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0008 a0007c0009 a0001c0008 a0007c0009	a0001c0008t0001 a0007c0009t0001 a0001c0008t0001 a0007c0009t0001	a0001c0008t0001g0135 a0007c0009t0001g0255 a0001c0008t0001g0135 a0007c0009t0001g0255	2	390	0.0051	-10	c.959 others(27): Show c.959+1038_959+1047delATATATATTT	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8			chr2	TogoVar
CFAP221_chr2_119539449_119661661	119628294	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0077 a0003c0003t0002g0077	1	226	0.0044	-10	c.165 others(27): Show c.1650+539_1650+548delGTGTGTGTGT	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP251_chr12_121913592_122008919	121918260	GACCTGGA others(3): Show GACCTGGAAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02970.hp2 others(1): Show HG01891.hp1 HG02258.hp1 HG02970.hp2 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0295 a0001c0004t0001g0296 a0001c0004t0001g0300 others(1): Show a0001c0004t0001g0295 a0001c0004t0001g0296 a0001c0004t0001g0300 a0001c0004t0001g0315	4	354	0.0113	-10	c.-45 others(19): Show c.-455_-446delACCTGGAAAT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding		331		chr12	TogoVar
CFAP251_chr12_121913592_122008919	121928627	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp2 HG02723.hp1 others(3): Show HG02280.hp1 HG02647.hp2 HG02723.hp1 HG02897.hp2 HG03453.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0017 a0001c0006 a0001c0017	a0001c0006t0001 a0001c0017t0001 a0001c0006t0001 a0001c0017t0001	a0001c0006t0001g0064 a0001c0006t0001g0247 a0001c0006t0001g0248 others(3): Show a0001c0006t0001g0064 a0001c0006t0001g0247 a0001c0006t0001g0248 a0001c0006t0001g0261 a0001c0006t0001g0262 a0001c0017t0001g0216	6	354	0.0170	-10	c.748 others(27): Show c.748-3118_748-3109delATATATATAC	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	3/21			chr12	TogoVar
CFAP251_chr12_121913592_122008919	121928628	ATATATAT others(3): Show ATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02056.hp1 HG03225.hp2 others(5): Show HG02027.hp2 HG02056.hp1 HG03225.hp2 HG03710.hp1 NA18906.hp2 NA18953.hp2 NA19000.hp2 NA19079.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0010 a0002c0001 a0004c0010	a0002c0001t0001 a0004c0010t0001 a0002c0001t0001 a0004c0010t0001	a0002c0001t0001g0124 a0002c0001t0001g0177 a0002c0001t0001g0178 others(5): Show a0002c0001t0001g0124 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0198 a0002c0001t0001g0207 a0002c0001t0001g0208 a0004c0010t0001g0065 a0004c0010t0001g0066	8	354	0.0226	-10	c.748 others(27): Show c.748-3109_748-3100delCGTATATATA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121928660	ATATATAT others(3): Show ATATATATACG	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0208 a0002c0001t0001g0208	1	354	0.0028	-10	c.748 others(27): Show c.748-3077_748-3068delCGTATATATA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121945327	GTTTTCTT others(3): Show GTTTTCTTTTC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0034 a0003c0002t0001g0035 a0003c0002t0001g0034 a0003c0002t0001g0035	2	354	0.0057	-10	c.119 others(29): Show c.1191+2372_1191+2381delCTTTTCTTTT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121998432	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp2 HG00673.hp2 others(27): Show HG00140.hp2 HG00621.hp2 HG00673.hp2 HG01167.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG02083.hp2 HG02155.hp2 HG02258.hp1 HG02451.hp2 HG02683.hp2 HG02738.hp1 HG02922.hp1 HG02976.hp2 HG03139.hp2 HG03710.hp2 HG03942.hp1 HG04204.hp2 NA18939.hp1 NA18955.hp1 NA18970.hp2 NA19054.hp1 NA19058.hp1 NA19064.hp1 NA19081.hp1 NA19083.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0001c0006 others(2): Show a0001c0003 a0001c0004 a0001c0006 a0001c0011 a0003c0002	a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 others(2): Show a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0011t0001 a0003c0002t0001	a0001c0003t0001g0090 a0001c0003t0001g0093 a0001c0003t0001g0104 others(27): Show a0001c0003t0001g0090 a0001c0003t0001g0093 a0001c0003t0001g0104 a0001c0003t0001g0107 a0001c0003t0001g0110 a0001c0003t0001g0264 a0001c0003t0001g0320 a0001c0003t0001g0325 a0001c0004t0001g0273 a0001c0004t0001g0296 a0001c0004t0001g0298 a0001c0004t0001g0302 a0001c0006t0001g0249 a0001c0006t0001g0250 a0001c0006t0001g0344 a0001c0011t0001g0306 a0003c0002t0001g0013 a0003c0002t0001g0014 a0003c0002t0001g0020 a0003c0002t0001g0021 a0003c0002t0001g0022 a0003c0002t0001g0024 a0003c0002t0001g0025 a0003c0002t0001g0036 a0003c0002t0001g0041 a0003c0002t0001g0042 a0003c0002t0001g0045 a0003c0002t0001g0047 a0003c0002t0001g0050 a0003c0002t0001g0053	30	354	0.0848	-10	c.300 others(29): Show c.3007-1237_3007-1228delATATATATAT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	122004189	CGCCCAGT others(3): Show CGCCCAGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0002 a0001c0008t0001g0002	1	354	0.0028	-10	c.42 others(19): Show c.426_*435delGCCCAGTGTG	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding		271		chr12	TogoVar
CFAP276_chr1_109100951_109117747	109113406	GAGAGAGA others(3): Show GAGAGAGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02257.hp2 HG02559.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0021 a0005c0004t0001g0069 a0005c0004t0001g0021 a0005c0004t0001g0069	2	404	0.0050	-10	c.-73 others(19): Show c.-737_-728delTTCTCTCTCT	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		660		chr1	TogoVar
CFAP276_chr1_109100951_109117747	109113416	AAGAGAGA others(3): Show AAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01109.hp2 HG01943.hp2 others(5): Show HG00140.hp1 HG01109.hp2 HG01943.hp2 HG02015.hp1 HG02451.hp2 HG02486.hp2 HG02723.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0028	8	404	0.0198	-10	c.-74 others(19): Show c.-747_-738delCTCTCTCTCT	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		670		chr1	TogoVar
CFAP298_chr21_32594354_32617377	32596718	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	416	0.0024	-10	c.51 others(21): Show c.5135_*5144delTTTTTTTTTT	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding		2635		chr21	TogoVar
CFAP298_chr21_32594354_32617377	32611318	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00639.hp2 others(4): Show HG00140.hp2 HG00280.hp1 HG00639.hp2 HG01952.hp1 HG02055.hp1 HG03139.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 others(2): Show a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 a0001c0001t0039 a0002c0008t0014	a0001c0001t0014g0181 a0001c0001t0014g0183 a0001c0001t0021g0046 others(3): Show a0001c0001t0014g0181 a0001c0001t0014g0183 a0001c0001t0021g0046 a0001c0001t0024g0182 a0001c0001t0039g0184 a0002c0008t0014g0214	7	416	0.0168	-10	c.139 others(25): Show c.139+777_139+786delATATATATAT	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar

Search by Variant

Search

Search Results