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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
COP1_chr1_175939831_176212286	176028696	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19003.hp2 HG03831.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0008	a0001c0001t0001g0102 a0001c0002t0008g0026 a0001c0001t0001g0102 a0001c0002t0008g0026	2	300	0.0067	26	c.161 others(45): Show c.1613-1034_1613-1009dupATATATATATATATATATATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	14/19			chr1	TogoVar
COPG2_chr7_130501238_130673748	130513341	A A	ATATATAT others(19): Show ATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01516.hp2 HG01069.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0142 a0001c0001t0001g0144	2	326	0.0061	26	c.215 others(45): Show c.2150-4683_2150-4682insCACACACATATATATATATATATATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130647001	A A	ATATATAT others(19): Show ATATATATATGCATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp2 HG02965.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0253 a0001c0001t0001g0257	2	326	0.0061	26	c.323 others(43): Show c.323+5867_323+5868insCACACATATATATATGCATATATATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	5/23			chr7	TogoVar
COPZ2_chr17_48021167_48042797	48026119	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	396	0.0025	26	c.30 others(35): Show c.308_*309insGTGTGTGTGTGTGTGTGTGTGTGTGT	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		47		chr17	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02083.hp2 HG03041.hp1 others(10): Show HG00673.hp2 HG02083.hp2 HG03041.hp1 HG03453.hp1 NA18940.hp2 NA18943.hp2 NA18945.hp2 NA18953.hp2 NA18963.hp2 NA18978.hp1 NA19060.hp1 NA19079.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0021 a0002c0003t0002 a0002c0003t0021	a0002c0003t0002g0007 a0002c0003t0002g0053 a0002c0003t0002g0055 others(3): Show a0002c0003t0002g0007 a0002c0003t0002g0053 a0002c0003t0002g0055 a0002c0003t0002g0068 a0002c0003t0002g0071 a0002c0003t0021g0064	13	372	0.0350	26	c.576 others(41): Show c.576+230_576+231insTTTTTTTTTTTTTTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATAGAGA others(19): Show TATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01517.hp2 NA18955.hp2 others(2): Show HG00408.hp2 HG01517.hp2 NA18955.hp2 NA18960.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0301 a0001c0002t0001g0302 others(2): Show a0001c0002t0001g0042 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0310 a0001c0002t0001g0319	5	410	0.0122	26	c.114 others(45): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATAGA others(19): Show TATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18979.hp2 NA20905.hp1 HG02027.hp1 NA18979.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0023 a0001c0002 a0001c0003 a0002c0023	a0001c0002t0001 a0001c0003t0001 a0002c0023t0001 a0001c0002t0001 a0001c0003t0001 a0002c0023t0001	a0001c0002t0001g0308 a0001c0003t0001g0196 a0002c0023t0001g0063 a0001c0002t0001g0308 a0001c0003t0001g0196 a0002c0023t0001g0063	3	410	0.0073	26	c.114 others(45): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(19): Show TATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0245 a0001c0004t0001g0245	1	410	0.0024	26	c.114 others(45): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(19): Show TATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	410	0.0024	26	c.114 others(45): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTATATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0048 a0001c0005t0001g0048	1	410	0.0024	26	c.114 others(45): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTATATATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697874	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0249 a0001c0004t0001g0249	1	410	0.0024	26	c.114 others(45): Show c.1144-1821_1144-1820insACTCTCTCTCTCTCTCTCTCTCTCTC	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG04115.hp2 NA18954.hp2 others(5): Show HG02080.hp2 HG04115.hp2 NA18954.hp2 NA18966.hp1 NA18978.hp1 NA18984.hp1 NA19057.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 others(5): Show a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0321 a0001c0002t0001g0327 a0001c0002t0001g0333 a0001c0002t0001g0337 a0001c0002t0001g0340	8	410	0.0195	26	c.114 others(45): Show c.1144-1822_1144-1821insGTCTCTCTCTCTCTCTCTCTCTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697876	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0053 a0003c0010t0001g0053	1	410	0.0024	26	c.114 others(45): Show c.1144-1823_1144-1822insACTCTCTCTCTCTCTCTCTCTCTCTC	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(19): Show CTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0183 a0002c0003t0003g0183	1	264	0.0038	26	c.254 others(43): Show c.2540+474_2540+475insTATATATATATATATATAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18522.hp2 NA18906.hp1 HG02965.hp2 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0097 a0001c0001t0004g0100 a0001c0002t0004g0046 a0001c0001t0004g0097 a0001c0001t0004g0100 a0001c0002t0004g0046	3	264	0.0114	26	c.254 others(43): Show c.2540+474_2540+475insTATATATATATATATAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG02559.hp1 others(5): Show HG01515.hp2 HG01517.hp2 HG02559.hp1 HG02717.hp1 HG02922.hp2 NA18966.hp1 NA18967.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0075 a0001c0001t0001g0094 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0075 a0001c0001t0001g0094 a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0003g0141 a0001c0001t0004g0154	8	342	0.0234	26	c.201 others(43): Show c.201+3130_201+3131insTATATATATATATATATATATATACA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02976.hp2 NA18906.hp2 others(1): Show HG02698.hp2 HG02976.hp2 NA18906.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0046 a0001c0001t0001g0104 a0001c0001t0008g0298 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0104 a0001c0001t0008g0298 a0001c0001t0008g0301	4	342	0.0117	26	c.201 others(43): Show c.201+3130_201+3131insTATATATATATATATATATATACACA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154352	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03041.hp2 NA18906.hp1 HG02109.hp2 HG03041.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0128 a0001c0001t0003g0144 a0001c0001t0003g0146	3	342	0.0088	26	c.201 others(43): Show c.201+3107_201+3108insGTGTATATATATATATATATATATAT	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02293.hp2 NA19074.hp2 HG02015.hp2 HG02293.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0085 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0085	3	406	0.0074	26	c.-30 others(37): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7B2_chr4_46729827_46914245	46754726	G G	GTATATAT others(19): Show GTATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02615.hp2 HG02895.hp1 others(12): Show HG00621.hp1 HG02615.hp2 HG02895.hp1 HG03098.hp1 HG03130.hp2 HG03540.hp2 NA18939.hp2 NA18943.hp2 NA18981.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19057.hp2 NA19083.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0089 others(12): Show a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0188 a0001c0001t0001g0213 a0001c0001t0002g0014 a0001c0001t0003g0085	15	300	0.0500	26	c.-49 others(45): Show c.-49-19486_-49-19485insTACATATATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01243.hp1 HG02040.hp1 others(1): Show HG00423.hp1 HG01243.hp1 HG02040.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0119 a0001c0001t0002g0049 a0001c0001t0002g0054 others(1): Show a0001c0001t0001g0119 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0003g0227	4	300	0.0133	26	c.-49 others(45): Show c.-49-19488_-49-19487insTATATATATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTATATAT others(19): Show GTATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	300	0.0033	26	c.-49 others(45): Show c.-49-19488_-49-19487insTATACATATATATATATATATATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03017.hp1 HG03239.hp1 others(3): Show HG00735.hp2 HG03017.hp1 HG03239.hp1 NA18982.hp1 NA19058.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0181 a0001c0001t0001g0182 others(3): Show a0001c0001t0001g0116 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0001g0223	6	300	0.0200	26	c.-49 others(45): Show c.-49-19488_-49-19487insTATATATATATATATATATATATACA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	300	0.0033	26	c.-49 others(45): Show c.-49-19488_-49-19487insTATATATATATATATATATATACACA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	300	0.0033	26	c.-49 others(45): Show c.-49-19488_-49-19487insTATATATATATATATATATACACACA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPA3_chr3_148860296_148902203	148891497	C C	CACACACA others(19): Show CACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0229 a0001c0001t0005g0229	1	400	0.0025	26	c.106 others(45): Show c.1067-5008_1067-5007insCACACACACATACACACACACACACA	CPA3	ENSG00000163751.4	transcript	ENST00000296046.4	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPA6_chr8_67417038_67751360	67448639	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02145.hp2 HG02258.hp2 others(4): Show HG01069.hp2 HG02145.hp2 HG02258.hp2 HG02895.hp2 HG02922.hp1 HG03041.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0066 a0001c0001t0001g0076 others(4): Show a0001c0001t0001g0018 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0131 a0001c0001t0001g0139 a0002c0002t0001g0065 a0002c0002t0001g0130	7	144	0.0486	26	c.839 others(45): Show c.839-14400_839-14399insTTTTTTTTTTTTTTTTTTTTTTTTTT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67560160	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03471.hp2 HG00140.hp2 HG03471.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0007 a0003c0003 a0009c0007	a0003c0003t0001 a0009c0007t0001 a0003c0003t0001 a0009c0007t0001	a0003c0003t0001g0077 a0009c0007t0001g0132 a0003c0003t0001g0077 a0009c0007t0001g0132	2	144	0.0139	26	c.193 others(45): Show c.193-42114_193-42113insATATATATATATATATATATATATAT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67716151	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	144	0.0069	26	c.116 others(45): Show c.116+29837_116+29862dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16938123	T T	TCCTGTGT others(19): Show TCCTGTGTATTCATTCCCTGCGTATTC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0176 a0002c0176	a0002c0176t0001 a0002c0176t0001	a0002c0176t0001g0014 a0002c0176t0001g0014	1	278	0.0036	26	c.284 others(43): Show c.2845+246_2845+271dupGAATACGCAGGGAATGAATACACAGG	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	23/41			chr19	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	456	0.0022	26	c.981 others(43): Show c.981+1172_981+1173insGTATATATATATATATATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148849012	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	456	0.0022	26	c.981 others(43): Show c.981+3410_981+3411insTTTTTTTTTTTTTTTTTTTTTTTTTT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB2_chr13_46048186_46110033	46108155	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0021	1	330	0.0030	26	c.-31 others(37): Show c.-3147_-3146insTATATATATATATATATATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3123		chr13	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01496.hp2 HG01934.hp1 others(8): Show HG01099.hp2 HG01496.hp2 HG01934.hp1 HG02615.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 NA18956.hp2 NA18959.hp2 NA19007.hp1 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0007t0005 a0002c0002t0001 a0002c0002t0002 a0002c0007t0005	a0002c0002t0001g0019 a0002c0002t0002g0007 a0002c0002t0002g0008 others(7): Show a0002c0002t0001g0019 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0096 a0002c0002t0002g0098 a0002c0002t0002g0129 a0002c0002t0002g0138 a0002c0002t0002g0142 a0002c0007t0005g0122 a0002c0007t0005g0123	11	330	0.0333	26	c.-31 others(37): Show c.-3149_-3148insTATATATATATATATATATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPD_chr17_30373927_30474989	30470280	C C	CATACATA others(19): Show CATACATACGTGTGTATGTATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	296	0.0034	26	c.54 others(37): Show c.5466_*5467insATACATACGTGTGTATGTATATGTAT	CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding		292		chr17	TogoVar
CPEB3_chr10_92041692_92296078	92120098	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAACAAGCA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG01070.hp1 others(41): Show HG00609.hp1 HG00642.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02273.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG03239.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18961.hp1 NA18962.hp2 NA18975.hp2 NA18995.hp2 NA18999.hp2 NA19007.hp1 NA19009.hp1 NA19068.hp1 NA19082.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0022 a0001c0001t0026 a0001c0001t0037 a0001c0001t0040 a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0002t0014 a0001c0002t0028	a0001c0001t0001g0111 a0001c0001t0003g0102 a0001c0001t0003g0103 others(41): Show a0001c0001t0001g0111 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0132 a0001c0001t0009g0112 a0001c0001t0010g0110 a0001c0001t0010g0118 a0001c0001t0011g0272 a0001c0001t0017g0123 a0001c0001t0017g0131 a0001c0001t0022g0116 a0001c0001t0026g0127 a0001c0001t0037g0273 a0001c0001t0040g0276 a0001c0002t0001g0033 a0001c0002t0001g0055 a0001c0002t0001g0072 a0001c0002t0001g0086 a0001c0002t0001g0095 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0059 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0085 a0001c0002t0003g0087 a0001c0002t0010g0047 a0001c0002t0014g0060 a0001c0002t0014g0076 a0001c0002t0014g0090 a0001c0002t0028g0061	44	278	0.1583	26	c.145 others(45): Show c.1454-8905_1454-8904insTGCTTGTTTTTTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	6/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92120098	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAACAAGCAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01433.hp2 HG02622.hp2 others(10): Show HG01081.hp1 HG01433.hp2 HG02622.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0025 a0001c0001t0036 a0001c0004t0011 a0001c0004t0033	a0001c0001t0002g0002 a0001c0001t0005g0246 a0001c0001t0005g0250 others(10): Show a0001c0001t0002g0002 a0001c0001t0005g0246 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0260 a0001c0001t0015g0267 a0001c0001t0025g0253 a0001c0001t0036g0275 a0001c0004t0011g0252 a0001c0004t0033g0269	13	278	0.0468	26	c.145 others(45): Show c.1454-8905_1454-8904insTTGCTTGTTTTTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	6/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	121117077	T T	TTATATAT others(19): Show TTATATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0050 a0004c0009t0001g0050	1	140	0.0071	26	c.919 others(43): Show c.919-7232_919-7231insTAAATATATATATATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121117077	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	140	0.0071	26	c.919 others(43): Show c.919-7232_919-7231insTATATATATATATATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121189760	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0054 a0001c0008t0001g0054	1	140	0.0071	26	c.205 others(47): Show c.2056-46941_2056-46916dupTATATATATATATATATATATATA TA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121194022	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	140	0.0071	26	c.205 others(47): Show c.2056-42691_2056-42690insCTCTCTCTCTCTCTCTCTCTCTAT AT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121294806	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0077 a0001c0001t0004g0077	1	140	0.0071	26	c.286 others(43): Show c.2869-618_2869-617insAAAAAAAAAAAAAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02109.hp1 HG02300.hp1 others(7): Show HG01928.hp2 HG02109.hp1 HG02300.hp1 HG02615.hp2 HG03130.hp1 HG03579.hp1 HG03579.hp2 NA18966.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0007t0002	a0001c0001t0001g0017 a0001c0001t0001g0099 a0001c0001t0001g0149 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0099 a0001c0001t0001g0149 a0001c0001t0001g0175 a0001c0001t0002g0046 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0316 a0001c0001t0005g0150 a0001c0007t0002g0313	10	332	0.0301	26	c.308 others(43): Show c.308-3203_308-3202insAAAAAAAAAAGAAAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871410	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGACAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01496.hp1 HG01934.hp2 others(9): Show HG00609.hp2 HG01496.hp1 HG01934.hp2 HG03688.hp1 NA18964.hp1 NA18965.hp2 NA19005.hp1 NA19058.hp1 NA19062.hp1 NA19082.hp1 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0068 a0001c0001t0069	a0001c0001t0002g0002 a0001c0001t0002g0057 a0001c0001t0002g0064 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0006g0002 a0001c0001t0011g0002 a0001c0001t0012g0002 a0001c0001t0021g0002 a0001c0001t0068g0083 a0001c0001t0069g0002	12	378	0.0318	26	c.-38 others(35): Show c.-384_-383insGAGAGAGAGAGAGAGAGAGACAGAGA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		167		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871417	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGACAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	26	c.-37 others(35): Show c.-377_-376insAGAGAGAGAGAGACAGAGAGAGAGAA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		160		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871427	G G	GAGAGAGA others(19): Show GAGAGAGACAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0007 a0001c0001t0017g0007	1	378	0.0027	26	c.-36 others(35): Show c.-367_-366insAGAGAGACAGAGAGAGAGAGAGAGAA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		150		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAAAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03139.hp1 HG02970.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0018 a0001c0001t0015g0018	2	378	0.0053	26	c.-36 others(35): Show c.-361_-360insAGAGAGAGAGAGAGAGAAAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	378	0.0027	26	c.-36 others(35): Show c.-361_-360insAGAGAGAGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871454	A A	AGAGAGAG others(19): Show AGAGAGAGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 NA18998.hp1 NA20300.hp1 HG01981.hp2 NA18998.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	378	0.0079	26	c.-34 others(35): Show c.-340_-339insGAGAGAGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		123		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871456	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0058 a0001c0001t0024g0058	1	378	0.0027	26	c.-33 others(35): Show c.-338_-337insGAGAGAGAGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		121		chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)