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
BBS2_chr16_56479385_56525024	56480352	C C	CACACAAA others(17): Show CACACAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	269	0.0037	24	c.44 others(35): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTGTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS4_chr15_72681207_72743473	72688411	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	18	0.0556	24	c.24+ others(39): Show c.24+2180_24+2181insTTTTTTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72702802	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	19	0.0526	24	c.77- others(39): Show c.77-6875_77-6874insTTTTTTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725765	C C	CCCCCTTC others(17): Show CCCCCTTCCTCTTCCCCTTCCTCTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04228.hp1 HG03688.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0134 a0001c0001t0001g0071 a0001c0001t0001g0134	2	300	0.0067	24	c.587 others(41): Show c.587+1132_587+1133insTTCCCCTTCCTCTTCCCCTTCCTC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS9_chr7_33124564_33611069	33188080	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	78	0.0128	24	c.442 others(43): Show c.442+10498_442+10521dupTGTGTGTGTGTGTGTGTGTGTGTG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33432136	G G	GTGCAGTG others(17): Show GTGCAGTGGTGCGATCTCGTCTCAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp1 HG03579.hp1 HG01891.hp2 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0002g0259 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0002g0259	3	266	0.0113	24	c.211 others(45): Show c.2115+43997_2115+44020dupGTGGTGCGATCTCGTCTCACTGCA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107778994	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02055.hp1 HG02257.hp1 others(7): Show HG01071.hp1 HG02055.hp1 HG02257.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG03453.hp2 NA18522.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0006 a0001c0001t0008 a0001c0001t0057 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0057 a0001c0001t0058 a0003c0003t0008	a0001c0001t0006g0046 a0001c0001t0006g0096 a0001c0001t0006g0098 others(7): Show a0001c0001t0006g0046 a0001c0001t0006g0096 a0001c0001t0006g0098 a0001c0001t0006g0155 a0001c0001t0006g0193 a0001c0001t0008g0111 a0001c0001t0057g0197 a0001c0001t0058g0014 a0003c0003t0008g0045 a0003c0003t0008g0119	10	98	0.1020	24	c.220 others(41): Show c.2203+479_2203+502dupTATATATATATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG01071.hp1 others(12): Show HG00733.hp1 HG00738.hp2 HG01071.hp1 HG01169.hp2 HG01243.hp1 HG01884.hp2 HG01981.hp1 HG02602.hp2 HG02965.hp1 HG03130.hp2 HG03209.hp2 HG04184.hp2 NA18522.hp1 NA18963.hp1 NA18970.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0008 a0002c0002 others(2): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0008t0001 a0002c0002t0050 a0003c0003t0056 a0006c0012t0002	a0001c0001t0001g0020 a0001c0001t0001g0120 a0001c0001t0001g0126 others(12): Show a0001c0001t0001g0020 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0002g0065 a0001c0001t0008g0111 a0001c0001t0011g0191 a0001c0001t0013g0167 a0001c0001t0022g0035 a0001c0008t0001g0122 a0002c0002t0050g0056 a0003c0003t0056g0192 a0006c0012t0002g0188	15	95	0.1579	24	c.235 others(43): Show c.2354-1182_2354-1159dupTATATATATATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797364	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00735.hp1 others(4): Show HG00099.hp2 HG00140.hp1 HG00735.hp1 HG01978.hp2 HG02723.hp2 HG03139.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0040 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0040 a0001c0001t0042 a0001c0001t0058	a0001c0001t0005g0027 a0001c0001t0005g0144 a0001c0001t0005g0147 others(4): Show a0001c0001t0005g0027 a0001c0001t0005g0144 a0001c0001t0005g0147 a0001c0001t0006g0026 a0001c0001t0040g0007 a0001c0001t0042g0086 a0001c0001t0058g0014	7	164	0.0427	24	c.235 others(43): Show c.2354-1159_2354-1158insTATATATATATATATATATATATG	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17			chr3	TogoVar
BCAN_chr1_156637117_156664528	156643633	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02055.hp2 HG02818.hp2 HG01975.hp2 HG02055.hp2 HG02818.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0001 a0003c0004t0001 a0003c0004t0002 a0002c0003t0001 a0003c0004t0001 a0003c0004t0002	a0002c0003t0001g0142 a0003c0004t0001g0143 a0003c0004t0002g0144 a0002c0003t0001g0142 a0003c0004t0001g0143 a0003c0004t0002g0144	3	60	0.0500	24	c.-9+ others(39): Show c.-9+1359_-9+1360insGAGAGAGAGAGAGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(17): Show ACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03098.hp2 HG02155.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0343 a0001c0001t0003g0222 a0001c0001t0002g0343 a0001c0001t0003g0222	2	204	0.0098	24	c.194 others(41): Show c.194-2298_194-2297insACACACACACACACACACACACCC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp1 HG02622.hp2 HG03225.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0008 a0007c0008t0065 a0001c0001t0008 a0007c0008t0065	a0001c0001t0008g0078 a0007c0008t0065g0073 a0001c0001t0008g0078 a0007c0008t0065g0073	2	238	0.0084	24	c.143 others(43): Show c.143-12937_143-12936insTTTTTTTTTTTTTTTTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGTGC others(17): Show GTGTGTGCGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03471.hp1 NA19043.hp2 HG02145.hp2 HG03471.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0001 a0001c0002 a0002c0003 a0003c0001	a0001c0002t0001 a0002c0003t0001 a0003c0001t0001 a0001c0002t0001 a0002c0003t0001 a0003c0001t0001	a0001c0002t0001g0059 a0002c0003t0001g0037 a0003c0001t0001g0024 a0001c0002t0001g0059 a0002c0003t0001g0037 a0003c0001t0001g0024	3	53	0.0566	24	c.259 others(43): Show c.2593+6758_2593+6759insCGCGCGCGCGCGCGCACATGTGTG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0046 a0001c0004t0001g0046	1	51	0.0196	24	c.259 others(43): Show c.2593+6761_2593+6762insGTGCGCGCGCGCACATGTGTGTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24824231	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01361.hp1 HG02735.hp1 others(2): Show HG01256.hp2 HG01361.hp1 HG02735.hp1 HG03041.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0067 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0067 a0001c0001t0068	a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0014g0280 others(2): Show a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0014g0280 a0001c0001t0067g0032 a0001c0001t0068g0178	5	84	0.0595	24	c.111 others(43): Show c.1119+5568_1119+5591dupGGAAGGAAGGAAGGAAGGAAGGAA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	10/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24887078	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0058	1	318	0.0031	24	c.280 others(41): Show c.280-5668_280-5667insATATATATATATATATATATATAT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(17): Show ATCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01884.hp1 HG02055.hp2 others(17): Show HG01169.hp1 HG01884.hp1 HG02055.hp2 HG02145.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 NA18942.hp2 NA18946.hp1 NA18952.hp2 NA19000.hp2 NA19062.hp2 NA19091.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0001t0046 a0001c0001t0057 a0001c0001t0061 a0001c0001t0087 a0001c0001t0092	a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0002g0264 others(17): Show a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0155 a0001c0001t0009g0268 a0001c0001t0016g0261 a0001c0001t0016g0262 a0001c0001t0016g0263 a0001c0001t0046g0306 a0001c0001t0057g0260 a0001c0001t0061g0161 a0001c0001t0087g0154 a0001c0001t0092g0266	20	142	0.1408	24	c.6+1 others(39): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGAGAGAGAGA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCKDHB_chr6_80101671_80351270	80168791	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02622.hp2 HG02630.hp1 others(4): Show HG00140.hp2 HG02622.hp2 HG02630.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0019 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0019 a0001c0001t0023	a0001c0001t0003g0141 a0001c0001t0003g0146 a0001c0001t0003g0147 others(4): Show a0001c0001t0003g0141 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0150 a0001c0001t0007g0152 a0001c0001t0019g0140 a0001c0001t0023g0145	7	83	0.0843	24	c.478 others(37): Show c.478-81_478-80insAAGGAAGGGAGGGAGGGAGGGAGG	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80168791	A A	AAGGAAGG others(17): Show AAGGAAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	77	0.0130	24	c.478 others(37): Show c.478-81_478-80insAAGGGAGGGAGGGAGGGAGGGAGG	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80168791	A A	AAGGGAGG others(17): Show AAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0099 a0001c0001t0009g0099	1	77	0.0130	24	c.478 others(37): Show c.478-69_478-68insGAGGGAGGGAGGGAGGGAGGGAGG	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDK_chr16_31103386_31117791	31103583	C C	CTCTCCGT others(17): Show CTCTCCGTCTCCGTCTCCGTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02132.hp1 others(2): Show HG01070.hp2 HG01071.hp1 HG02132.hp1 NA18939.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	5	192	0.0260	24	c.-50 others(35): Show c.-5074_-5073insTCTCCGTCTCCGTCTCCGTCTCCG	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4802		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31117369	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01256.hp1 HG01258.hp2 others(3): Show HG00673.hp1 HG01256.hp1 HG01258.hp2 HG02630.hp2 NA18747.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	6	158	0.0380	24	c.51 others(35): Show c.5104_*5105insAAATAAATAAATAAATAAATAAAT	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4579		chr16	TogoVar
BCKDK_chr16_31103386_31117791	31117398	A A	AAATAAAT others(17): Show AAATAAATAAATAAATAAATAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	279	0.0036	24	c.51 others(35): Show c.5133_*5134insAATAAATAAATAAATAAATAAATT	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4608		chr16	TogoVar
BCL11A_chr2_60452194_60558654	60467137	G G	GGTGGTGG others(17): Show GGTGGTGGTGATGATGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG03486.hp1 HG02572.hp1 HG02723.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0021 a0001c0001t0001 a0001c0001t0008 a0001c0001t0021	a0001c0001t0001g0035 a0001c0001t0008g0114 a0001c0001t0021g0101 a0001c0001t0001g0035 a0001c0001t0008g0114 a0001c0001t0021g0101	3	260	0.0115	24	c.487 others(41): Show c.487+1594_487+1595insTACCACCACCATCATCACCACCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467215	A A	AGTGATGG others(17): Show AGTGATGGTGGTGGTAATGGTGGTG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	252	0.0040	24	c.487 others(41): Show c.487+1516_487+1517insCACCACCATTACCACCACCATCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467807	A A	ATGGTGGT others(17): Show ATGGTGGTGGTGGTAGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01168.hp1 HG01361.hp2 others(5): Show HG00741.hp1 HG01168.hp1 HG01361.hp2 HG01496.hp1 HG02145.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0016 a0001c0002t0028 a0002c0008t0003	a0001c0002t0001g0017 a0001c0002t0002g0119 a0001c0002t0004g0072 others(5): Show a0001c0002t0001g0017 a0001c0002t0002g0119 a0001c0002t0004g0072 a0001c0002t0004g0076 a0001c0002t0008g0115 a0001c0002t0016g0254 a0001c0002t0028g0045 a0002c0008t0003g0153	8	242	0.0331	24	c.487 others(39): Show c.487+924_487+925insCCACCATCACTACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11B_chr14_99164287_99277197	99217381	T T	TACAGACA others(17): Show TACAGACACACACACACATACAGAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0123 a0001c0001t0009g0123	1	348	0.0029	24	c.640 others(43): Show c.640+13963_640+13964insGTCTGTATGTGTGTGTGTGTCTGT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99217385	G G	GACACACA others(17): Show GACACACACACACACATACAGACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0079 a0001c0002t0004g0079	1	180	0.0056	24	c.640 others(43): Show c.640+13959_640+13960insGTGTCTGTATGTGTGTGTGTGTGT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99217385	G G	GACACACA others(17): Show GACACACACACACATACAGACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02015.hp2 HG03579.hp2 HG01891.hp1 HG02015.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0003 a0001c0002t0045 a0001c0001t0009 a0001c0002t0003 a0001c0002t0045	a0001c0001t0009g0096 a0001c0002t0003g0248 a0001c0002t0045g0014 a0001c0001t0009g0096 a0001c0002t0003g0248 a0001c0002t0045g0014	3	182	0.0165	24	c.640 others(43): Show c.640+13959_640+13960insGTGTGTCTGTATGTGTGTGTGTGT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL2L10_chr15_52104263_52117775	52111173	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02273.hp1 NA19056.hp2 others(2): Show HG00735.hp2 HG02273.hp1 NA19056.hp2 NA19240.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0002 a0002c0002t0006	a0002c0002t0002g0029 a0002c0002t0002g0072 a0002c0002t0006g0088 a0002c0002t0002g0029 a0002c0002t0002g0072 a0002c0002t0006g0088	5	71	0.0704	24	c.489 others(41): Show c.489+1041_489+1064dupGTGTGTGTGTGTGTGTGTGTGTGT	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding	1/1			chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0023 a0002c0002t0003g0023	1	219	0.0046	24	c.-43 others(35): Show c.-4377_-4376insAATATATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0077 a0002c0002t0003g0077	1	219	0.0046	24	c.-43 others(35): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAAAA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111147346	T T	TCTCTCTC others(17): Show TCTCTCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	220	0.0045	24	c.395 others(41): Show c.395-2697_395-2696insTCTCTCACACACACACACACACAC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L11_chr2_111115914_111173444	111147346	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0138 a0001c0001t0010g0138	1	220	0.0045	24	c.395 others(41): Show c.395-2697_395-2696insTCTCTCTCTCTCTCTCTCTCTCAC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17717380	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00733.hp1 others(30): Show HG00099.hp2 HG00140.hp2 HG00733.hp1 HG01884.hp1 HG02055.hp2 HG02135.hp2 HG02145.hp2 HG03130.hp2 HG03225.hp2 HG03486.hp1 NA18955.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18974.hp1 NA18998.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp1 NA19077.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0008c0011	a0001c0001t0003 a0001c0001t0009 a0001c0001t0023 others(8): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0023 a0001c0001t0043 a0001c0002t0006 a0001c0002t0012 a0001c0002t0027 a0001c0002t0042 a0001c0007t0009 a0001c0007t0044 a0008c0011t0023	a0001c0001t0003g0001 a0001c0001t0003g0026 a0001c0001t0003g0038 others(29): Show a0001c0001t0003g0001 a0001c0001t0003g0026 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0110 a0001c0001t0009g0041 a0001c0001t0023g0108 a0001c0001t0043g0006 a0001c0002t0006g0082 a0001c0002t0006g0105 a0001c0002t0012g0008 a0001c0002t0012g0009 a0001c0002t0012g0300 a0001c0002t0027g0075 a0001c0002t0042g0010 a0001c0007t0009g0040 a0001c0007t0009g0059 a0001c0007t0044g0033 a0008c0011t0023g0109	33	243	0.1358	24	c.601 others(41): Show c.601-9291_601-9290insAAAAAAAAAAAAAAAAAAAAAAAA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17720154	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00639.hp1 others(22): Show HG00323.hp1 HG00408.hp1 HG00639.hp1 HG01070.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG02148.hp1 HG02257.hp2 HG02717.hp2 HG02723.hp2 HG02970.hp1 HG03098.hp2 HG03453.hp1 HG03486.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18946.hp1 NA18979.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0014 a0001c0001 a0001c0002 a0001c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0018 a0001c0001t0032 a0001c0001t0047 a0001c0002t0012 a0001c0014t0007	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 others(22): Show a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0165 a0001c0001t0002g0182 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0004g0101 a0001c0001t0004g0177 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0140 a0001c0001t0005g0220 a0001c0001t0005g0242 a0001c0001t0007g0013 a0001c0001t0007g0017 a0001c0001t0007g0122 a0001c0001t0007g0247 a0001c0001t0013g0236 a0001c0001t0018g0195 a0001c0001t0032g0146 a0001c0001t0047g0129 a0001c0002t0012g0009 a0001c0014t0007g0015	25	133	0.1880	24	c.601 others(41): Show c.601-6518_601-6495dupTTTCTTTCTTTCTTTCTTTCTTTC	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L1_chr20_31659458_31727868	31667484	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	41	0.0244	24	c.565 others(41): Show c.565-1422_565-1399dupACACACACACACACACACACACAC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTGTTTGTTTGTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01167.hp2 HG01070.hp1 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0031 a0001c0001t0001g0057	2	68	0.0294	24	c.564 others(43): Show c.564+23762_564+23763insAACAAACAAACAAAAAAAAAAAAA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02896.hp1 HG03139.hp1 others(1): Show HG02258.hp2 HG02896.hp1 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0007 a0001c0001t0001g0154 a0001c0001t0001g0155 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0006g0156	4	70	0.0571	24	c.564 others(43): Show c.564+23762_564+23763insAAAAAAAAAAAAAAAAAAAAAAAA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2_chr18_63118346_63324769	63169336	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp1 HG02135.hp1 others(7): Show HG00408.hp1 HG01081.hp1 HG02135.hp1 HG03490.hp1 HG03540.hp2 NA18906.hp2 NA18974.hp2 NA19064.hp1 NA19066.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0060 a0001c0002t0002	a0001c0001t0001g0142 a0001c0001t0001g0217 a0001c0001t0002g0011 others(7): Show a0001c0001t0001g0142 a0001c0001t0001g0217 a0001c0001t0002g0011 a0001c0001t0004g0193 a0001c0001t0004g0200 a0001c0001t0005g0158 a0001c0001t0006g0005 a0001c0001t0006g0021 a0001c0001t0060g0264 a0001c0002t0002g0065	10	125	0.0800	24	c.586 others(43): Show c.586-40601_586-40578dupAAAGAAAGAAAGAAAGAAAGAAAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63281666	C C	CAGAAAGA others(17): Show CAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	32	0.0313	24	c.585 others(43): Show c.585+36392_585+36415dupTTCTTTCTTTCTTTCTTTCTTTCT	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL3_chr19_44743708_44765044	44764168	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03017.hp2 NA18939.hp1 others(2): Show HG02486.hp2 HG03017.hp2 NA18939.hp1 NA18983.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0162 a0001c0001t0003g0018 a0001c0001t0003g0125 others(1): Show a0001c0001t0001g0162 a0001c0001t0003g0018 a0001c0001t0003g0125 a0001c0001t0008g0096	5	335	0.0149	24	c.45 others(35): Show c.4553_*4554insAGGAAGGAAGGAAGGAAGGAAGCG	BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding		4125		chr19	TogoVar
BCL3_chr19_44743708_44765044	44764168	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	331	0.0030	24	c.45 others(35): Show c.4553_*4554insAGGAAGGAAGGAAGGAAGGGAGCG	BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding		4125		chr19	TogoVar
BCL7B_chr7_73531356_73562690	73534553	C C	CTATATAT others(17): Show CTATATATATAAAAATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG03209.hp1 HG01243.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0043 a0001c0001t0001g0045	2	282	0.0071	24	c.27 others(35): Show c.2744_*2745insTATATAAATATTTTTATATATATA	BCL7B	ENSG00000106635.8	transcript	ENST00000223368.7	protein_coding		1802		chr7	TogoVar
BCL7B_chr7_73531356_73562690	73534564	A A	AAAATATT others(17): Show AAAATATTTATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	282	0.0035	24	c.27 others(35): Show c.2733_*2734insATATATATATATATATAAATATTT	BCL7B	ENSG00000106635.8	transcript	ENST00000223368.7	protein_coding		1791		chr7	TogoVar
BCL9L_chr11_118891136_118930926	118918262	G G	GCTGTGTG others(17): Show GCTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0141 a0001c0001t0030g0141	1	248	0.0040	24	c.-77 others(39): Show c.-77+563_-77+564insACACACACACACACACACACACAG	BCL9L	ENSG00000186174.13	transcript	ENST00000683865.1	protein_coding	2/9			chr11	TogoVar
BCL9_chr1_147536501_147631216	147540231	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0145	1	7	0.1429	24	c.-19 others(35): Show c.-1921_-1920insTCTCTCTCTCTCTCTCTCTCTCTC	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		1269		chr1	TogoVar
BCL9_chr1_147536501_147631216	147564988	T T	TTTCGAGT others(17): Show TTTCGAGTACAATAGCTACAATATG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0124 a0001c0001t0004g0124	1	313	0.0032	24	c.-47 others(45): Show c.-478+23314_-478+23315insTTCGAGTACAATAGCTACAATATG	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding	1/9			chr1	TogoVar
BCLAF1_chr6_136251627_136294846	136256669	C C	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0099 a0001c0001t0048g0099	1	141	0.0071	24	c.44 others(35): Show c.4417_*4440dupTATTTATTTATTTATTTATTTATT	BCLAF1	ENSG00000029363.17	transcript	ENST00000531224.6	protein_coding	13/13	4440		chr6	TogoVar
BCLAF3_chrX_19907860_19996061	19995680	G G	GGGAGGGA others(17): Show GGGAGGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG00639.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0002g0030 a0001c0001t0002g0046	2	171	0.0117	24	c.-48 others(35): Show c.-4808_-4807insTTCCTTCCTTCCTTCCTTCCCTCC	BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding		4620		chrX	TogoVar

Search by Variant

Search

Search Results