Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C4BPB_chr1_207083860_207104993	207085615	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	388	0.0026	38	c.-33 others(49): Show c.-3382_-3381insATATATATATATATATATATATATATATATATAT ATAT	C4BPB	ENSG00000123843.13	transcript	ENST00000367078.8	protein_coding		3244		chr1	TogoVar
C4BPB_chr1_207083860_207104993	207085621	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	388	0.0026	38	c.-33 others(49): Show c.-3376_-3375insATATATATATATATATATATATATATATATATAT ATAA	C4BPB	ENSG00000123843.13	transcript	ENST00000367078.8	protein_coding		3238		chr1	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	358	0.0028	38	c.715 others(55): Show c.715-1621_715-1620insATATATATATATATATATATATATTTTT TTTTTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004196	G G	GGTGATGG others(31): Show GGTGATGGTGATGATGGTGATGATAGTGATGGTGATGAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp2 HG01891.hp2 HG02818.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0000 a0010c0010t0000	a0010c0010t0000g0281 a0010c0010t0000g0290 a0010c0010t0000g0281 a0010c0010t0000g0290	2	346	0.0058	38	c.963 others(55): Show c.963+3799_963+3800insATCATCACCATCACTATCATCACCATCA TCACCATCAC	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004584	T T	TTGGTGAT others(31): Show TTGGTGATGATGGTGATGGTGGTGATGATGTGATGGTAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02896.hp1 others(3): Show HG02109.hp1 HG02280.hp1 HG02896.hp1 HG02897.hp2 HG03453.hp2 HG03579.hp2	a0017 a0039 a0017 a0039	a0017c0020 a0039c0037 a0017c0020 a0039c0037	a0017c0020t0000 a0039c0037t0000 a0017c0020t0000 a0039c0037t0000	a0017c0020t0000g0001 a0017c0020t0000g0068 a0017c0020t0000g0069 others(2): Show a0017c0020t0000g0001 a0017c0020t0000g0068 a0017c0020t0000g0069 a0039c0037t0000g0294 a0039c0037t0000g0295	6	346	0.0173	38	c.963 others(55): Show c.963+3411_963+3412insTTACCATCACATCATCACCACCATCACC ATCATCACCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C5orf52_chr5_157666533_157685158	157684794	G G	GCTAAGGT others(31): Show GCTAAGGTGGCAGCCGTGACTGCACCACTGCACTCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	418	0.0024	38	c.47 others(49): Show c.4795_*4796insCTAAGGTGGCAGCCGTGACTGCACCACTGCACTC CAGT	C5orf52	ENSG00000187658.7	transcript	ENST00000409999.4	protein_coding		4637		chr5	TogoVar
C7orf50_chr7_992006_1143247	1031361	C C	CCAGAGAC others(31): Show CCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03540.hp2 HG06807.hp2 others(1): Show HG02258.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0003g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 others(1): Show a0001c0001t0003g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0007g0150	4	326	0.0123	38	c.130 others(57): Show c.130-21219_130-21218insCCCCCCCCGGACCACTCTGCCCTCCC TGCAGGTCTCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031724	C C	CGGGGGAC others(31): Show CGGGGGACCAGAGACCTGCAGGGAGGGCAGAGTGGTCGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG06807.hp2 HG02258.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0294 a0001c0001t0005g0295	2	326	0.0061	38	c.130 others(57): Show c.130-21582_130-21581insCCGACCACTCTGCCCTCCCTGCAGGT CTCTGGTCCCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031761	C C	CGGGGGAC others(31): Show CGGGGGACCAGAGACCTGCAGGGAGGGCAGAGTGGTCCG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	326	0.0031	38	c.130 others(57): Show c.130-21619_130-21618insCGGACCACTCTGCCCTCCCTGCAGGT CTCTGGTCCCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128007	G G	GCTGGAGT others(31): Show GCTGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0239	1	326	0.0031	38	c.-1- others(51): Show c.-1-622_-1-621insACGGTGAGATGAGCCGAGATGGCGCCACTGCA CTCCAG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1135901	A A	ATATATAA others(31): Show ATATATAAAAATATATATAAGTATATATAAATATATAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp2 HG02280.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0118 a0001c0001t0010g0119 a0001c0001t0007g0118 a0001c0001t0010g0119	2	326	0.0061	38	c.-2+ others(53): Show c.-2+1376_-2+1413dupCTTATATATTTATATATACTTATATATATT TTTATATA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1135908	A A	AAAATATA others(31): Show AAAATATATATAAGTATATATAAATATATAAGTATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG04204.hp1 HG02698.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0011g0206 a0001c0001t0011g0207	2	326	0.0061	38	c.-2+ others(53): Show c.-2+1369_-2+1406dupATATATACTTATATATTTATATATACTTAT ATATATTT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1135912	T T	TATATATA others(31): Show TATATATAAGTATATATAAATATATATAAGTATATATAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19085.hp2 NA18998.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0195 a0001c0001t0004g0196	2	326	0.0061	38	c.-2+ others(53): Show c.-2+1402_-2+1403insTTATATATACTTATATATATTTATATATAC TTATATAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051809	T T	TCCTTCCT others(31): Show TCCTTCCTTTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0043 a0006c0006t0002g0043	1	404	0.0025	38	c.606 others(53): Show c.606-891_606-890insCCTTCCTTTTCTCTTCTCTTCTCTTCTCTT CTCTTCTC	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8			chr7	TogoVar
C9_chr5_39279140_39369495	39333606	C C	CCGTCTCC others(31): Show CCGTCTCCCTCTCCCCTTTCCATGGTCTCCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18612.hp1 NA18943.hp2 others(12): Show HG06807.hp1 NA18612.hp1 NA18943.hp2 NA18953.hp1 NA18969.hp1 NA18983.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA19003.hp2 NA19054.hp2 NA19058.hp2 NA19066.hp2 NA19080.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0018 a0001c0001 a0002c0002 a0002c0018	a0001c0001t0001 a0002c0002t0001 a0002c0018t0009 a0001c0001t0001 a0002c0002t0001 a0002c0018t0009	a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0001g0247 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0262 a0002c0002t0001g0313 a0002c0002t0001g0334 a0002c0002t0001g0342 a0002c0018t0009g0346	15	394	0.0381	38	c.477 others(55): Show c.477-1793_477-1792insAGGGAGAGGGGAGACCATGGAAAGGGGA GAGGGAGACG	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	4/10			chr5	TogoVar
C9orf153_chr9_86215265_86264657	86241706	A A	ACCTCCAC others(31): Show ACCTCCACCTCCTGGGTTCAAGTGATGTTCCTGCCTCAG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	384	0.0026	38	c.-26 others(57): Show c.-26-12115_-26-12078dupCTGAGGCAGGAACATCACTTGAACCC AGGAGGTGGAGG	C9orf153	ENSG00000187753.13	transcript	ENST00000339137.7	protein_coding	1/3			chr9	TogoVar
CA10_chr17_51625320_52163714	51942538	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02056.hp2 NA18964.hp1 HG01358.hp1 HG02056.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0002g0012 a0001c0001t0002g0074 a0001c0001t0001g0009 a0001c0001t0002g0012 a0001c0001t0002g0074	3	156	0.0192	38	c.137 others(57): Show c.137-11407_137-11406insTATATATATATATATATATATATATA TATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8			chr17	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	344	0.0029	38	c.36 others(53): Show c.36-973_*36-972insGTGTGTGTATATATATATATATATATATAT ATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18983.hp2 HG01255.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0244 a0001c0002t0005g0132 a0001c0001t0002g0244 a0001c0002t0005g0132	2	344	0.0058	38	c.36 others(53): Show c.36-973_*36-972insGTGTGTATATATATATATATATATATATAT ATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0294 a0001c0001t0015g0294	1	344	0.0029	38	c.36 others(53): Show c.36-973_*36-972insGTGTATATATATATATATATATATATATAT ATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60283340	A A	AGGGGGGG others(31): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0012 a0001c0002t0025g0012	1	344	0.0029	38	c.-21 others(49): Show c.-2194_-2193insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCC	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding		1941		chr8	TogoVar
CA8_chr8_60180412_60286400	60284613	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAGCGAAAATAAAAAAAAAATAGAACAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0168 a0001c0002t0005g0168	1	344	0.0029	38	c.-34 others(49): Show c.-3467_-3466insCTTGTTCTATTTTTTTTTTATTTTCGCTTTTTTT TTTT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding		3214		chr8	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18974.hp2 HG02015.hp1 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0013 a0001c0002t0004 a0001c0002t0013	a0001c0002t0004g0123 a0001c0002t0013g0266 a0001c0002t0004g0123 a0001c0002t0013g0266	2	324	0.0062	38	c.565 others(55): Show c.565-1863_565-1862insATATATATATATATATATATATATATAT ATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49375699	G G	GACGAGTT others(31): Show GACGAGTTAATGGGTACAGCACACCAACATGGCACATGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	324	0.0031	38	c.276 others(55): Show c.276+1230_276+1267dupACATGTGCCATGTTGGTGTGCTGTACCC ATTAACTCGT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	5/10			chr13	TogoVar
CABLES1_chr18_23130485_23265470	23150207	G G	GTTTTTTT others(31): Show GTTTTTTTGTTTTTTTTTTTTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0010 a0001c0001t0056g0010	1	278	0.0036	38	c.845 others(57): Show c.845+13607_845+13608insGTTTTTTTTTTTTTTGTTTTTTTTTT TTTTTTTTTTTT	CABLES1	ENSG00000134508.13	transcript	ENST00000256925.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1A_chr19_13201442_13511479	13510045	G G	GGAAGGAA others(31): Show GGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	218	0.0046	38	c.-38 others(49): Show c.-3822_-3821insTCCCCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding		3567		chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2667249	T T	TTCCATTT others(31): Show TTCCATTTCTCCCTCCCCTCCACCATGGCCACTCCACGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp2 HG01891.hp1 HG02809.hp2	a0001 a0001	a0001c0037 a0001c0038 a0001c0037 a0001c0038	a0001c0037t0006 a0001c0038t0041 a0001c0037t0006 a0001c0038t0041	a0001c0037t0006g0025 a0001c0038t0041g0047 a0001c0037t0006g0025 a0001c0038t0041g0047	2	104	0.0192	38	c.462 others(55): Show c.4623+470_4623+471insATTTCTCCCTCCCCTCCACCATGGCCAC TCCACGCTCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	37/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2667249	T T	TTCCATTT others(31): Show TTCCATTTCTCCCTCCCCTCCACCATGGCCACTCTGTGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03516.hp1 NA21309.hp2 HG02280.hp2 HG03516.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0012 a0001c0026 a0003c0023 a0001c0012 a0001c0026 a0003c0023	a0001c0012t0007 a0001c0026t0003 a0003c0023t0011 a0001c0012t0007 a0001c0026t0003 a0003c0023t0011	a0001c0012t0007g0046 a0001c0026t0003g0066 a0003c0023t0011g0048 a0001c0012t0007g0046 a0001c0026t0003g0066 a0003c0023t0011g0048	3	104	0.0289	38	c.462 others(55): Show c.4623+470_4623+471insATTTCTCCCTCCCCTCCACCATGGCCAC TCTGTGCTCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	37/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2667249	T T	TTCCATTT others(31): Show TTCCATTTCTCCCTCCTCTCCACCATGGCCACTCCACGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 NA19030.hp2 HG02886.hp1 HG02965.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0003 a0001c0001t0005 a0001c0020t0002 a0001c0001t0003 a0001c0001t0005 a0001c0020t0002	a0001c0001t0003g0063 a0001c0001t0005g0015 a0001c0020t0002g0010 a0001c0001t0003g0063 a0001c0001t0005g0015 a0001c0020t0002g0010	3	104	0.0289	38	c.462 others(55): Show c.4623+470_4623+471insATTTCTCCCTCCTCTCCACCATGGCCAC TCCACGCTCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	37/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2667249	T T	TTCCATTT others(31): Show TTCCATTTCTCCCTCCTCTCCACCATGGCCACTCCGTGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp2 HG02922.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0033 a0001c0001 a0001c0033	a0001c0001t0021 a0001c0033t0020 a0001c0001t0021 a0001c0033t0020	a0001c0001t0021g0055 a0001c0033t0020g0070 a0001c0001t0021g0055 a0001c0033t0020g0070	2	104	0.0192	38	c.462 others(55): Show c.4623+470_4623+471insATTTCTCCCTCCTCTCCACCATGGCCAC TCCGTGCTCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	37/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2667249	T T	TTCCATTT others(31): Show TTCCATTTCTCCCTCCTCTCCACCATGGCCACTCTGTGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02523.hp2 HG02572.hp2 others(7): Show HG02257.hp2 HG02523.hp2 HG02572.hp2 HG02896.hp2 HG02897.hp1 HG03516.hp2 HG03540.hp1 NA18906.hp2 NA18966.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0025 a0001c0032 a0002c0009	a0001c0001t0005 a0001c0001t0013 a0001c0001t0045 others(5): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0045 a0001c0003t0037 a0001c0005t0002 a0001c0025t0007 a0001c0032t0031 a0002c0009t0012	a0001c0001t0005g0097 a0001c0001t0013g0014 a0001c0001t0045g0052 others(7): Show a0001c0001t0005g0097 a0001c0001t0013g0014 a0001c0001t0045g0052 a0001c0003t0037g0003 a0001c0005t0002g0090 a0001c0005t0002g0098 a0001c0025t0007g0012 a0001c0032t0031g0103 a0002c0009t0012g0061 a0002c0009t0012g0062	10	104	0.0962	38	c.462 others(55): Show c.4623+470_4623+471insATTTCTCCCTCCTCTCCACCATGGCCAC TCTGTGCTCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	37/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2667249	T T	TTCCATTT others(31): Show TTCCATTTCTCCCTCCTCTCCACCGTGGCCACTCCACGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0085 a0001c0003t0009g0085	1	104	0.0096	38	c.462 others(55): Show c.4623+470_4623+471insATTTCTCCCTCCTCTCCACCGTGGCCAC TCCACGCTCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	37/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2667249	T T	TTCCATTT others(31): Show TTCCATTTCTCCCTCCTCTCCACCGTGGCCACTCTGTGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0007 a0001c0012t0007	a0001c0012t0007g0076 a0001c0012t0007g0076	1	104	0.0096	38	c.462 others(55): Show c.4623+470_4623+471insATTTCTCCCTCCTCTCCACCGTGGCCAC TCTGTGCTCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	37/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2667273	A A	ATGGCCAC others(31): Show ATGGCCACTCCACGCTCCTTTTCTCCCTCCTCTCCACCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp1 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0011t0030 a0001c0001t0002 a0001c0011t0030	a0001c0001t0002g0027 a0001c0011t0030g0039 a0001c0001t0002g0027 a0001c0011t0030g0039	2	104	0.0192	38	c.462 others(55): Show c.4623+498_4623+535dupCTCCACGCTCCTTTTCTCCCTCCTCTCC ACCGTGGCCA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	37/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2667273	A A	ATGGCCAC others(31): Show ATGGCCACTCTGTGCTCCTTTTCTCCCTCCTCTCCACCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02896.hp1 HG03225.hp1 HG02145.hp2 HG02896.hp1 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0016 a0001c0001 a0001c0003 a0003c0016	a0001c0001t0005 a0001c0003t0005 a0003c0016t0011 a0001c0001t0005 a0001c0003t0005 a0003c0016t0011	a0001c0001t0005g0042 a0001c0003t0005g0031 a0003c0016t0011g0082 a0001c0001t0005g0042 a0001c0003t0005g0031 a0003c0016t0011g0082	3	104	0.0289	38	c.462 others(55): Show c.4623+500_4623+501insTGTGCTCCTTTTCTCCCTCCTCTCCACC GTGGCCACTC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	37/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2667280	C C	CTCTGTGC others(31): Show CTCTGTGCTCCTTTTCTCCCTCCTCTCCACCGTGGCCAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0001c0022 a0002c0040 a0001c0011 a0001c0022 a0002c0040	a0001c0011t0014 a0001c0022t0014 a0002c0040t0016 a0001c0011t0014 a0001c0022t0014 a0002c0040t0016	a0001c0011t0014g0007 a0001c0022t0014g0050 a0002c0040t0016g0073 a0001c0011t0014g0007 a0001c0022t0014g0050 a0002c0040t0016g0073	3	104	0.0289	38	c.462 others(55): Show c.4623+500_4623+501insTGTGCTCCTTTTCTCCCTCCTCTCCACC GTGGCCATTC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	37/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2667311	G G	GTGGCCAT others(31): Show GTGGCCATTCCATGCTCCTTTTCTCCCTCCTCTCCACCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0034 a0001c0015t0034	a0001c0015t0034g0075 a0001c0015t0034g0075	1	104	0.0096	38	c.462 others(55): Show c.4623+539_4623+540insATGCTCCTTTTCTCCCTCCTCTCCACCA TGGCCATTCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	37/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2667318	T T	TTCCACGC others(31): Show TTCCACGCTCCTTTTCTCCCTCCTCTCCACCATGGCCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01496.hp1 HG01993.hp1 others(3): Show HG00140.hp1 HG01496.hp1 HG01993.hp1 HG02040.hp2 HG02273.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0022 a0001c0003t0008 others(1): Show a0001c0001t0002 a0001c0001t0022 a0001c0003t0008 a0001c0003t0010	a0001c0001t0002g0049 a0001c0001t0002g0096 a0001c0001t0022g0058 others(3): Show a0001c0001t0002g0049 a0001c0001t0002g0096 a0001c0001t0022g0058 a0001c0003t0008g0057 a0001c0003t0008g0059 a0001c0003t0010g0019	6	104	0.0577	38	c.462 others(55): Show c.4623+539_4623+540insACGCTCCTTTTCTCCCTCCTCTCCACCA TGGCCACTCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	37/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02135.hp2 HG02698.hp2 others(1): Show HG00609.hp1 HG02135.hp2 HG02698.hp2 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0005 a0001c0005t0032 a0003c0003t0005 a0001c0001t0005 a0001c0005t0032 a0003c0003t0005	a0001c0001t0005g0015 a0001c0001t0005g0172 a0001c0005t0032g0029 others(1): Show a0001c0001t0005g0015 a0001c0001t0005g0172 a0001c0005t0032g0029 a0003c0003t0005g0180	4	206	0.0194	38	c.620 others(55): Show c.6208+743_6208+744insATATATATATATATATATATATATATAT ATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	82055930	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	144	0.0069	38	c.879 others(55): Show c.879+4497_879+4498insTATATATATATATATATATATATATATA TATATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82111422	A A	ATGTATAT others(31): Show ATGTATATATATATTCATATATGTGTATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0078 a0001c0001t0007g0078	1	144	0.0069	38	c.526 others(55): Show c.526+5621_526+5622insCACACACATATATACACATATATGAATA TATATATACA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82332510	T T	TAAAGAAA others(31): Show TAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	144	0.0069	38	c.294 others(55): Show c.294+2624_294+2625insCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG04204.hp2 NA19240.hp2 HG01070.hp2 HG04204.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 a0001c0001 a0001c0003 a0001c0014	a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 a0001c0001t0001 a0001c0003t0001 a0001c0014t0001	a0001c0001t0001g0118 a0001c0003t0001g0110 a0001c0014t0001g0102 a0001c0001t0001g0118 a0001c0003t0001g0110 a0001c0014t0001g0102	3	118	0.0254	38	c.204 others(57): Show c.204+17493_204+17494insTGTGTGTGTGTGTGTGTGTGCGCGCG CGCGCGCGCGCG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54249568	C C	CACACACA others(31): Show CACACACACACACACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0004 a0001c0037t0004	a0001c0037t0004g0019 a0001c0037t0004g0019	1	118	0.0085	38	c.205 others(57): Show c.205-70854_205-70853insACACACACACACACACAGACACACAC ACACACACACAC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54478660	G G	GTGTATAT others(31): Show GTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	118	0.0085	38	c.382 others(57): Show c.382-24831_382-24830insGTATATATATATATATATATATATAT ATATATATATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54478660	G G	GTGTATGT others(31): Show GTGTATGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0028 a0001c0030t0001g0028	1	118	0.0085	38	c.382 others(57): Show c.382-24831_382-24830insGTATGTATATATATATATATATATAT ATATATATATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54809311	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18979.hp1 HG00280.hp1 NA18979.hp1	a0001 a0001	a0001c0004 a0001c0015 a0001c0004 a0001c0015	a0001c0004t0001 a0001c0015t0001 a0001c0004t0001 a0001c0015t0001	a0001c0004t0001g0031 a0001c0015t0001g0072 a0001c0004t0001g0031 a0001c0015t0001g0072	2	118	0.0170	38	c.138 others(57): Show c.1381-7524_1381-7523insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54883815	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	118	0.0085	38	c.191 others(57): Show c.1913-1458_1913-1457insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTTTCTCTCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	21/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(31): Show GCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 NA18995.hp2 NA20752.hp2 HG03130.hp2 NA18995.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0058 a0001c0001t0081 a0001c0001t0056 a0001c0001t0058 a0001c0001t0081	a0001c0001t0056g0105 a0001c0001t0058g0108 a0001c0001t0081g0161 a0001c0001t0056g0105 a0001c0001t0058g0108 a0001c0001t0081g0161	3	214	0.0140	38	c.-11 others(49): Show c.-1185_-1184insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG CGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703761	C C	CTCGCTCT others(31): Show CTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	214	0.0047	38	c.-11 others(49): Show c.-1186_-1185insAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GCGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		10		chr22	TogoVar

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Search Results (Total: 5880 hits)