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
CTNS_chr17_3631760_3668103	3641384	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0038 a0002c0002t0011g0038	1	136	0.0074	22	c.61+ others(37): Show c.61+1118_61+1119insATATATATATATATATATATTT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3641384	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0055 a0001c0004t0055	a0001c0004t0055g0039 a0001c0004t0055g0039	1	136	0.0074	22	c.61+ others(37): Show c.61+1118_61+1119insATATATATATATATATATTTTT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3641384	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0016 a0001c0004t0018g0016	1	136	0.0074	22	c.61+ others(37): Show c.61+1118_61+1119insATATATATATATATTTTTTTTT	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTPS2_chrX_16582999_16717669	16661993	C C	CATATATA others(15): Show CATATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	165	0.0061	22	c.129 others(41): Show c.1296+5520_1296+5521insATATATATATATGTATATATAT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18			chrX	TogoVar
CTSB_chr8_11837524_11873087	11869602	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	215	0.0047	22	c.-16 others(33): Show c.-1628_-1627insCTTTTTTTTTTTTTTTTTTTTT	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding		1516		chr8	TogoVar
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(15): Show TGAAAGAAAGAAAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00621.hp2 others(15): Show HG00140.hp2 HG00544.hp1 HG00621.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01175.hp2 HG01975.hp2 HG01993.hp2 HG02738.hp1 HG02886.hp1 HG03654.hp1 NA18959.hp1 NA18985.hp1 NA18999.hp2 NA19075.hp1 NA19083.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0046 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0046 a0001c0001t0001g0120 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0222 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0280 a0001c0001t0001g0291 a0001c0001t0003g0296	18	47	0.3830	22	c.24 others(33): Show c.2436_*2437insTTTCTTTCTTTTTCTTTCTTTC	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2022		chr11	TogoVar
CTSD_chr11_1747755_1768927	1764976	T T	TGTATATA others(15): Show TGTATATATACACATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0011 a0001c0004t0002g0011	1	384	0.0026	22	c.-11 others(33): Show c.-1118_-1117insGTATATATATGTGTATATATAC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding		1050		chr11	TogoVar
CTSD_chr11_1747755_1768927	1765074	A A	ATATATGT others(15): Show ATATATGTGTATATATATACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02523.hp1 HG02615.hp1 others(9): Show HG00140.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02738.hp2 HG03239.hp2 HG03654.hp1 HG04228.hp1 NA18947.hp2 NA19010.hp1 NA19065.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0002t0001g0008 a0001c0002t0001g0032	12	313	0.0383	22	c.-12 others(33): Show c.-1216_-1215insCATGTATATATATACACATATA	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding		1148		chr11	TogoVar
CTSK_chr1_150791208_150813260	150807005	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG01255.hp1 others(7): Show HG00642.hp2 HG01069.hp1 HG01255.hp1 HG01891.hp1 HG01981.hp1 HG02040.hp1 HG02083.hp2 HG02559.hp2 HG03139.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0046 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0086 a0001c0001t0001g0087	10	257	0.0389	22	c.-1- others(35): Show c.-1-200_-1-199insGAGAGAGAGAGAGAGAGAGAGA	CTSK	ENSG00000143387.14	transcript	ENST00000271651.8	protein_coding	1/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATTTAT others(15): Show ATATTTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02109.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0195 a0001c0001t0003g0196	2	86	0.0233	22	c.896 others(39): Show c.896+3642_896+3643insATATACATATAATATATAAATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744441	T T	TTATATGT others(15): Show TTATATGTATACATAATATATTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0103	1	336	0.0030	22	c.896 others(39): Show c.896+3335_896+3336insTAATATATTATGTATACATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112465445	A A	AACACACA others(15): Show AACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG00735.hp1 others(50): Show HG00423.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01081.hp1 HG01099.hp2 HG01168.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01975.hp2 HG02015.hp2 HG02080.hp1 HG02132.hp1 HG02148.hp1 HG02273.hp2 HG02559.hp2 HG03490.hp2 HG03669.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18950.hp2 NA18952.hp1 NA18959.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA18975.hp2 NA18983.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19079.hp2 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0006c0015	a0001c0001t0001 a0001c0002t0002 a0001c0002t0022 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0010t0017 a0006c0015t0001	a0001c0001t0001g0167 a0001c0002t0002g0001 a0001c0002t0002g0003 others(44): Show a0001c0001t0001g0167 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0086 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0096 a0001c0002t0002g0099 a0001c0002t0002g0102 a0001c0002t0002g0106 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0252 a0001c0002t0022g0070 a0001c0002t0023g0074 a0001c0002t0024g0103 a0001c0002t0025g0065 a0001c0010t0017g0034 a0006c0015t0001g0031	53	98	0.5408	22	c.80 others(33): Show c.8033_*8034insACACACACACACACACACACAC	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding		4282		chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117773648	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0128 a0003c0003t0002g0128	1	30	0.0333	22	c.277 others(41): Show c.2778+3841_2778+3862dupGTGTGTGTGTGTGTGTGTGTGT	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	8/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117871843	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	162	0.0062	22	c.81+ others(37): Show c.81+1491_81+1492insGTGTGTGTGTGTGTGTGTGTGT	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117871844	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01358.hp2 others(8): Show HG00323.hp2 HG01081.hp1 HG01358.hp2 HG01496.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02523.hp2 HG03654.hp2 NA18954.hp2 NA18962.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0005c0009t0001 a0001c0001t0001 a0001c0001t0002 a0005c0009t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(8): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0161 a0001c0001t0002g0162 a0005c0009t0001g0102	11	43	0.2558	22	c.81+ others(37): Show c.81+1469_81+1490dupTGTGTGTGTGTGTGTGTGTGTG	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	1/22			chr7	TogoVar
CTXND1_chr15_80190481_80257213	80204647	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 HG02622.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0024 a0001c0001t0013 a0001c0001t0024	a0001c0001t0013g0354 a0001c0001t0024g0131 a0001c0001t0013g0354 a0001c0001t0024g0131	2	28	0.0714	22	c.-21 others(39): Show c.-217-929_-217-908dupTATATATATATATATATATATA	CTXND1	ENSG00000259417.3	transcript	ENST00000560778.3	protein_coding	1/2			chr15	TogoVar
CTXND2_chr1_150882136_150918292	150886473	T T	TACACACA others(15): Show TACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18985.hp2 NA19066.hp1 NA18970.hp2 NA18985.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0005 a0001c0001t0001g0161 a0001c0001t0001g0165	3	15	0.2000	22	c.-91 others(31): Show c.-914_-913insACACACACACACACACACACAC	CTXND2	ENSG00000283324.1	transcript	ENST00000636087.1	protein_coding		662		chr1	TogoVar
CUBN_chr10_16818966_17134811	16872349	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0053 a0053	a0053c0074 a0053c0074	a0053c0074t0001 a0053c0074t0001	a0053c0074t0001g0055 a0053c0074t0001g0055	1	74	0.0135	22	c.923 others(41): Show c.9236+2024_9236+2025insATATATATATATATATATATAT	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	58/66			chr10	TogoVar
CUBN_chr10_16818966_17134811	16889953	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02886.hp2 others(1): Show HG02109.hp2 HG02630.hp1 HG02886.hp2 HG03540.hp2	a0047 a0062 a0072 others(1): Show a0047 a0062 a0072 a0088	a0047c0028 a0062c0073 a0072c0161 others(1): Show a0047c0028 a0062c0073 a0072c0161 a0088c0162	a0047c0028t0002 a0062c0073t0001 a0072c0161t0001 others(1): Show a0047c0028t0002 a0062c0073t0001 a0072c0161t0001 a0088c0162t0001	a0047c0028t0002g0180 a0062c0073t0001g0045 a0072c0161t0001g0185 others(1): Show a0047c0028t0002g0180 a0062c0073t0001g0045 a0072c0161t0001g0185 a0088c0162t0001g0192	4	90	0.0444	22	c.875 others(39): Show c.8755+417_8755+418insCTTTTTTTTTTTTTTTTTTTTT	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	55/66			chr10	TogoVar
CUBN_chr10_16818966_17134811	16981178	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01433.hp1 HG06807.hp2 HG00099.hp1 HG01433.hp1 HG06807.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0006 a0005c0003 a0001c0001 a0002c0006 a0005c0003	a0001c0001t0003 a0002c0006t0001 a0005c0003t0001 a0001c0001t0003 a0002c0006t0001 a0005c0003t0001	a0001c0001t0003g0122 a0002c0006t0001g0108 a0005c0003t0001g0109 a0001c0001t0003g0122 a0002c0006t0001g0108 a0005c0003t0001g0109	3	43	0.0698	22	c.469 others(41): Show c.4695+1284_4695+1305dupGTGTGTGTGTGTGTGTGTGTGT	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	31/66			chr10	TogoVar
CUBN_chr10_16818966_17134811	17087472	C C	CTTTGTTT others(15): Show CTTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0020 a0020	a0020c0115 a0020c0115	a0020c0115t0002 a0020c0115t0002	a0020c0115t0002g0047 a0020c0115t0002g0047	1	64	0.0156	22	c.194 others(39): Show c.1947+691_1947+692insAAAAAAAAAAAAAAAAAACAAA	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	15/66			chr10	TogoVar
CUEDC1_chr17_57856243_57960412	57893349	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0016 a0002c0003t0004g0017 a0002c0003t0004g0016 a0002c0003t0004g0017	2	99	0.0202	22	c.-31 others(41): Show c.-315-7492_-315-7471dupCACACACACACACACACACACA	CUEDC1	ENSG00000180891.13	transcript	ENST00000577830.6	protein_coding	1/10			chr17	TogoVar
CUEDC1_chr17_57856243_57960412	57905249	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0190 a0001c0001t0017g0190	1	60	0.0167	22	c.-31 others(43): Show c.-315-19392_-315-19371dupGTGTGTGTGTGTGTGTGTGTGT	CUEDC1	ENSG00000180891.13	transcript	ENST00000577830.6	protein_coding	1/10			chr17	TogoVar
CUL1_chr7_148693903_148806110	148725219	G G	GCGCACAC others(15): Show GCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	220	0.0045	22	c.-16 others(41): Show c.-161-4742_-161-4741insGCACACACACACACACACACAC	CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUL1_chr7_148693903_148806110	148725219	G G	GCGCGCAC others(15): Show GCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	220	0.0045	22	c.-16 others(41): Show c.-161-4742_-161-4741insGCGCACACACACACACACACAC	CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUL1_chr7_148693903_148806110	148725219	G G	GCGCGCGC others(15): Show GCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0109 a0001c0003t0001g0109	1	220	0.0045	22	c.-16 others(41): Show c.-161-4742_-161-4741insGCGCGCACACACACACACACAC	CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUL1_chr7_148693903_148806110	148725219	G G	GCGCGCGC others(15): Show GCGCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	220	0.0045	22	c.-16 others(41): Show c.-161-4742_-161-4741insGCGCGCGCACACACACACACAC	CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUL1_chr7_148693903_148806110	148778070	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02165.hp1 HG02135.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0147 a0001c0004t0001g0211 a0001c0001t0001g0147 a0001c0004t0001g0211	2	128	0.0156	22	c.108 others(41): Show c.1084-5707_1084-5686dupAAAAAAAAAAAAAAAAAAAAAA	CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUL4A_chr13_113204613_113272108	113260203	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01070.hp1 HG01192.hp1 others(16): Show HG00609.hp2 HG01070.hp1 HG01192.hp1 HG02083.hp2 HG02451.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG03017.hp1 HG03041.hp2 HG03225.hp2 HG03491.hp2 HG03579.hp1 NA18939.hp2 NA19043.hp1 NA19043.hp2 NA19076.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0002c0002t0001	a0001c0001t0001g0174 a0001c0001t0001g0189 a0001c0001t0001g0228 others(16): Show a0001c0001t0001g0174 a0001c0001t0001g0189 a0001c0001t0001g0228 a0001c0001t0001g0274 a0001c0001t0003g0008 a0001c0001t0003g0027 a0001c0001t0005g0316 a0001c0001t0005g0320 a0001c0001t0005g0324 a0001c0001t0005g0327 a0001c0001t0005g0331 a0001c0001t0006g0144 a0001c0001t0006g0151 a0001c0001t0006g0217 a0001c0001t0008g0028 a0001c0001t0009g0010 a0001c0001t0009g0211 a0002c0002t0001g0043 a0002c0002t0001g0055	19	111	0.1712	22	c.203 others(39): Show c.2032-388_2032-387insAAAAAAAAAAAAAAAAAAAAAA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113260208	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0318 a0001c0001t0006g0318	1	394	0.0025	22	c.203 others(39): Show c.2032-388_2032-387insAAAAAAAAAACAAAAAAAAAAA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113260211	A A	AAAAAACA others(15): Show AAAAAACAAACAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02886.hp1 HG03471.hp2 HG01496.hp1 HG02886.hp1 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0012 a0001c0005 a0001c0012	a0001c0005t0006 a0001c0012t0004 a0001c0005t0006 a0001c0012t0004	a0001c0005t0006g0343 a0001c0005t0006g0344 a0001c0012t0004g0034 a0001c0005t0006g0343 a0001c0005t0006g0344 a0001c0012t0004g0034	3	312	0.0096	22	c.203 others(39): Show c.2032-391_2032-390insCAAACAAAAAAAAAAACAAAAA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL9_chr6_43177196_43229587	43191481	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0096 a0001c0003t0001g0096	1	117	0.0085	22	c.218 others(41): Show c.2181-1517_2181-1496dupTTTTTTTTTTTTTTTTTTTTTT	CUL9	ENSG00000112659.14	transcript	ENST00000252050.9	protein_coding	8/40		INFO_REALIGN_3_PRIME	chr6	TogoVar
CUX1_chr7_101811007_102288958	102046569	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	7	0.1429	22	c.222 others(41): Show c.222+18430_222+18451dupTTTTTTTTTTTTTTTTTTTTTT	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101811007_102288958	102222811	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	11	0.0909	22	c.125 others(43): Show c.1255+27213_1255+27234dupTTTTTTTTTTTTTTTTTTTTTT	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101811007_102288958	102278657	A A	AATAAAAT others(15): Show AATAAAATAAAAAAATAAAATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00735.hp1 others(17): Show HG00423.hp2 HG00544.hp2 HG00735.hp1 HG01074.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01515.hp1 HG01884.hp2 HG01981.hp2 HG02109.hp1 HG02280.hp2 HG02735.hp2 HG03239.hp2 HG03654.hp1 HG03669.hp1 NA18945.hp2 NA18954.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0003 a0002c0004 others(3): Show a0001c0002 a0002c0003 a0002c0004 a0002c0007 a0004c0009 a0004c0010	a0001c0002t0001 a0002c0003t0001 a0002c0004t0001 others(4): Show a0001c0002t0001 a0002c0003t0001 a0002c0004t0001 a0002c0004t0009 a0002c0007t0001 a0004c0009t0001 a0004c0010t0001	a0001c0002t0001g0089 a0002c0003t0001g0111 a0002c0004t0001g0012 others(17): Show a0001c0002t0001g0089 a0002c0003t0001g0111 a0002c0004t0001g0012 a0002c0004t0001g0018 a0002c0004t0001g0026 a0002c0004t0001g0027 a0002c0004t0001g0043 a0002c0004t0001g0045 a0002c0004t0001g0052 a0002c0004t0001g0062 a0002c0004t0001g0083 a0002c0004t0001g0084 a0002c0004t0001g0100 a0002c0004t0001g0102 a0002c0004t0001g0117 a0002c0004t0009g0113 a0002c0007t0001g0076 a0002c0007t0001g0103 a0004c0009t0001g0069 a0004c0010t0001g0109	20	98	0.2041	22	c.168 others(39): Show c.1680+593_1680+594insTAAAATAAAAAAATAAAATATA	CUX1	ENSG00000257923.12	transcript	ENST00000622516.6	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	102046569	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0131 a0001c0004t0007g0131	1	6	0.1667	22	c.189 others(41): Show c.189+18430_189+18451dupTTTTTTTTTTTTTTTTTTTTTT	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX1_chr7_101812626_102263233	102222811	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0054 a0001c0003t0054	a0001c0003t0054g0046 a0001c0003t0054g0046	1	11	0.0909	22	c.313 others(41): Show c.3131-4551_3131-4530dupTTTTTTTTTTTTTTTTTTTTTT	CUX1	ENSG00000257923.12	transcript	ENST00000292535.12	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CUX2_chr12_111029165_111355554	111314639	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0045	1	69	0.0145	22	c.200 others(41): Show c.2002+2446_2002+2467dupAAAAAAAAAAAAAAAAAAAAAA	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111328941	A A	ATCTCTCT others(15): Show ATCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02280.hp1 HG02572.hp2 others(1): Show HG01169.hp1 HG02280.hp1 HG02572.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0008 a0001c0001t0003 a0001c0003t0008	a0001c0001t0003g0044 a0001c0001t0003g0079 a0001c0001t0003g0080 others(1): Show a0001c0001t0003g0044 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0003t0008g0032	4	54	0.0741	22	c.292 others(41): Show c.2927-5487_2927-5466dupTCTCTCTCTCTCTCTCTCTCTC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111328972	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03139.hp2 HG00597.hp1 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0092 a0001c0002t0001g0071 a0001c0002t0001g0092	2	73	0.0274	22	c.292 others(41): Show c.2927-5466_2927-5465insTCTCTCTCTCTCTCTCTCCCTC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUX2_chr12_111029165_111355554	111328982	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03471.hp2 HG03516.hp1 HG02970.hp1 HG03471.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0036 a0001c0002t0001g0046 a0001c0002t0001g0047	3	75	0.0400	22	c.292 others(41): Show c.2927-5456_2927-5455insTCTCTCTCTCTCTCCCCCCCTC	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CUZD1_chr10_122827158_122850857	122843810	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp2 HG02280.hp1 HG02965.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0116 a0003c0003t0001g0114 a0001c0001t0001g0116 a0003c0003t0001g0114	2	311	0.0064	22	c.82+ others(37): Show c.82+1930_82+1951dupATATATATATATATATATATAT	CUZD1	ENSG00000138161.14	transcript	ENST00000392790.6	protein_coding	1/8			chr10	TogoVar
CWC27_chr5_64763930_65023750	64776068	C C	CGAGAGAG others(15): Show CGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0172 a0001c0003t0002g0172	1	11	0.0909	22	c.139 others(39): Show c.139+1314_139+1335dupGAGAGAGAGAGAGAGAGAGAGA	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
CWC27_chr5_64763930_65023750	64799602	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG02055.hp2 others(10): Show HG00642.hp1 HG00741.hp1 HG02055.hp2 HG02257.hp2 HG02486.hp2 HG02622.hp1 HG03195.hp1 HG03209.hp1 NA18949.hp1 NA18962.hp1 NA18963.hp2 NA18999.hp2 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0002	a0002c0002t0001g0242 a0002c0002t0002g0023 a0002c0002t0002g0088 others(10): Show a0002c0002t0001g0242 a0002c0002t0002g0023 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0107 a0002c0004t0001g0173 a0002c0004t0001g0246 a0002c0004t0002g0019 a0002c0004t0002g0024 a0002c0004t0002g0076 a0002c0004t0002g0078	13	162	0.0802	22	c.670 others(37): Show c.670-646_670-645insTATATATATATATATATATATG	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	7/13			chr5	TogoVar
CWC27_chr5_64763930_65023750	64885698	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	31	0.0323	22	c.104 others(39): Show c.1042+171_1042+192dupGTGTGTGTGTGTGTGTGTGTGT	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
CWF19L2_chr11_107321360_107462825	107402871	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03098.hp1 HG00733.hp2 HG03098.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0002 a0001c0001t0001 a0004c0004t0002	a0001c0001t0001g0254 a0004c0004t0002g0318 a0001c0001t0001g0254 a0004c0004t0002g0318	2	291	0.0069	22	c.161 others(41): Show c.1618-9977_1618-9976insTATATATATATATATATATATA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	71	0.0141	22	c.161 others(41): Show c.1618-9979_1618-9978insTATATATATATATATATATACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	71	0.0141	22	c.161 others(41): Show c.1618-9979_1618-9978insTATATATATATATATATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(15): Show GTGTGTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18983.hp2 HG00408.hp2 NA18983.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0002 a0005c0005t0002 a0003c0003t0002 a0005c0005t0002	a0003c0003t0002g0051 a0005c0005t0002g0029 a0003c0003t0002g0051 a0005c0005t0002g0029	2	72	0.0278	22	c.161 others(41): Show c.1618-9979_1618-9978insTATATATATATATACATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWH43_chr4_48981275_49067079	49020416	C C	CACACACA others(15): Show CACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	111	0.0090	22	c.126 others(41): Show c.1266+3089_1266+3090insCACACACACACACACACACATA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr4	TogoVar

Search by Variant

Search

Search Results