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.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG06807.hp2 HG00323.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0001 a0002c0006t0001g0013 a0001c0001t0001g0001 a0002c0006t0001g0013	2	432	0.0046	27	c.-80 others(36): Show c.-805_-804insATATATATATATATATATATATTTTTT		CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding					797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG02165.hp1 HG02293.hp1 others(2): Show HG01975.hp1 HG02165.hp1 HG02293.hp1 HG02683.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0004t0001g0008 a0001c0001t0001g0001 a0001c0004t0001g0008	5	432	0.0116	27	c.-80 others(36): Show c.-805_-804insATATATATATATATATATATATATTTT		CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding					797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03688.hp2 HG03471.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0001 a0001c0001t0001g0033	2	432	0.0046	27	c.-80 others(36): Show c.-805_-804insATATATATATATATATATATATATATT		CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding					797		chr19	TogoVar
CLEC5A_chr7_141922357_141951974	141924388	T T	TATTTAGG others(20): Show TATTTAGGATAGTTAGCTCCTCTTGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0146 a0001c0001t0006g0146	1	386	0.0026	27	c.56 others(38): Show c.5689_*5715dupCAACAAGAGGAGCTAACTATCCTAAAT		CLEC5A	ENSG00000258227.7	transcript	ENST00000546910.6	protein_coding					2968		chr7	TogoVar
CLEC5A_chr7_141922357_141951974	141951163	A A	AACAGGGA others(20): Show AACAGGGATTGCATTGAATCTGTAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	386	0.0026	27	c.-43 others(38): Show c.-4378_-4377insAATCTACAGATTCAATGCAATCCCTGT		CLEC5A	ENSG00000258227.7	transcript	ENST00000546910.6	protein_coding					4190		chr7	TogoVar
CLIC4_chr1_24740447_24849321	24744702	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0094 a0001c0001t0005g0094	1	344	0.0029	27	c.-85 others(36): Show c.-852_-851insTATATATATATATATATATATATATAT		CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding					744		chr1	TogoVar
CLIC5_chr6_45893456_46020860	46016213	A A	AGGGGAAA others(20): Show AGGGGAAAGGGGAAGGGGAAAGAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0008 a0008	a0008c0003 a0008c0003	a0008c0003t0002 a0008c0003t0002	a0008c0003t0002g0002 a0008c0003t0002g0002	1	340	0.0029	27	c.-67 others(36): Show c.-672_-671insCTTCCTCTTTCCCCTTCCCCTTTCCCC		CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding					354		chr6	TogoVar
CLIP2_chr7_74284407_74410935	74390162	G G	GAAAAAGA others(20): Show GAAAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	278	0.0036	27	c.272 others(44): Show c.2720+905_2720+906insAAAGAAAGAAAGAAAGAAAGAAAGAAA		CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
CLN8_chr8_1758789_1791570	1763610	C C	CCCCCGCC others(20): Show CCCCCGCCGCGCCCCGCCCCCCGCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0001 a0001c0001t0043g0001	1	413	0.0024	27	c.-39 others(36): Show c.-399_-398insCCCCGCCGCGCCCCGCCCCCCGCCGCG		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					178		chr8	TogoVar
CLNK_chr4_10481395_10689768	10535260	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	320	0.0031	27	c.603 others(44): Show c.603-2978_603-2977insCTTTCTTTCTTTCTTTCTTTCTTTCTT		CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18						chr4	TogoVar
CLNK_chr4_10481395_10689768	10535264	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	320	0.0031	27	c.603 others(44): Show c.603-2982_603-2981insCTTTCTTTCTTTCTTTCTTTCTTTCTT		CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18						chr4	TogoVar
CLNK_chr4_10481395_10689768	10537702	C C	CCTTTCTT others(20): Show CCTTTCTTTCTTTCTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0176	1	320	0.0031	27	c.602 others(44): Show c.602+2791_602+2792insAAAGAAAGAAAGAAGAAAGAAAGAAAG		CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18						chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCTTT others(20): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0264 a0001c0001t0005g0264	1	320	0.0031	27	c.602 others(44): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAG		CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18						chr4	TogoVar
CLPSL2_chr6_35771598_35784552	35780370	G G	GGCTGGAG others(20): Show GGCTGGAGTGCAGTGGCTCAATCGCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	460	0.0022	27	c.92 others(36): Show c.920_*921insGCTGGAGTGCAGTGGCTCAATCGCAGC		CLPSL2	ENSG00000196748.10	transcript	ENST00000403376.4	protein_coding					819		chr6	TogoVar
CLUAP1_chr16_3496004_3544048	3529475	T T	TTATATAT others(20): Show TTATATATTATATAATTATATTATATTA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	382	0.0026	27	c.929 others(44): Show c.929-1072_929-1046dupTATATTATATATATTATATAATTATAT		CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUL1_chr18_591988_655182	596819	T T	TCTGCAGG others(20): Show TCTGCAGGCCCCGCCCACCCGGCGTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	414	0.0024	27	c.-44 others(36): Show c.-446_-445insCTGCAGGCCCCGCCCACCCGGCGTCAC		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding					168		chr18	TogoVar
CLUL1_chr18_591988_655182	596972	T T	TCTGCAGG others(20): Show TCTGCAGGCCCCGCCCACCCGGCGTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0125 a0002c0005t0001g0125	1	414	0.0024	27	c.-29 others(36): Show c.-293_-292insCTGCAGGCCCCGCCCACCCGGCGTCAC		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding					15		chr18	TogoVar
CLUL1_chr18_591988_655182	627013	A A	AAGAGAAG others(20): Show AAGAGAAGAGAAAGAGAAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	414	0.0024	27	c.424 others(40): Show c.424-81_424-80insGAAGAGAAAGAGAAAAGAAGAAAGAGA		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CLYBL_chr13_99601690_99897570	99794581	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19240.hp2 HG03098.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0119 a0001c0001t0001g0046 a0001c0001t0001g0119	2	218	0.0092	27	c.249 others(46): Show c.249+21597_249+21598insATTATTATTATTATTATTATTATTAT T		CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
CMC2_chr16_80961448_81011885	80965245	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 NA18970.hp2 HG03834.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0246 a0001c0001t0001g0018 a0001c0001t0001g0246	2	408	0.0049	27	c.10 others(40): Show c.10847_*10848insAAAAAAAAAAAAAAAAAAAAAAAAAAA		CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding					1202		chr16	TogoVar
CMIP_chr16_81439808_81716762	81520569	G G	GAGAGAGA others(20): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	268	0.0037	27	c.300 others(46): Show c.300+75028_300+75029insAGAGAGAGAGAGAGAGAGAGAGAGAG A		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20						chr16	TogoVar
CMTM8_chr3_32233680_32375321	32259372	G G	GGACAATG others(20): Show GGACAATGCCCGCATTGTTCTGCAGATT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	344	0.0029	27	c.147 others(46): Show c.147+20263_147+20289dupCGCATTGTTCTGCAGATTGACAATGC C		CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG00735.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0263 a0001c0001t0002g0264	2	344	0.0058	27	c.148 others(46): Show c.148-38298_148-38297insATATATATATATATATATATTTTTTT T		CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG02135.hp1 others(2): Show HG00423.hp1 HG00642.hp2 HG02135.hp1 HG02559.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0059 a0001c0001t0001g0091 a0001c0001t0001g0094	5	344	0.0145	27	c.148 others(46): Show c.148-38298_148-38297insATATATATATATATATATTTTTTTTT T		CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19083.hp1 NA18984.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0116 a0001c0001t0001g0042 a0001c0001t0001g0116	2	344	0.0058	27	c.148 others(46): Show c.148-38298_148-38297insATATATATATATATATTTTTTTTTTT T		CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMYA5_chr5_79684836_79805222	79688942	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0004 a0012c0015t0004	a0012c0015t0004g0028 a0012c0015t0004g0028	1	358	0.0028	27	c.-96 others(36): Show c.-966_-965insAAAAAAAAAAAAAAAAAAAAAAAAAAA		CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding					893		chr5	TogoVar
CNBD1_chr8_86861415_87387859	87129069	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03195.hp1 NA18522.hp2 others(1): Show HG01167.hp2 HG03195.hp1 NA18522.hp2 NA19043.hp2	a0002 a0004 a0002 a0004	a0002c0005 a0004c0003 a0002c0005 a0004c0003	a0002c0005t0001 a0004c0003t0002 a0002c0005t0001 a0004c0003t0002	a0002c0005t0001g0082 a0002c0005t0001g0084 a0002c0005t0001g0086 others(1): Show a0002c0005t0001g0082 a0002c0005t0001g0084 a0002c0005t0001g0086 a0004c0003t0002g0007	4	152	0.0263	27	c.432 others(46): Show c.432-76902_432-76901insAAAAAAAAAAAAAAAAAAAAAAAAAA A		CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
CNGA3_chr2_98341456_98403601	98367167	G G	GTTTATTT others(20): Show GTTTATTTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0070 a0004c0007t0001g0070	1	338	0.0030	27	c.-37 others(44): Show c.-37-2769_-37-2768insATTTTCTTTTTTTTTTTTTTTTTTTTT		CNGA3	ENSG00000144191.12	transcript	ENST00000272602.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCCTTTC others(20): Show TTCCTTTCTTTCTTTCTTTCCTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0282 a0001c0003t0001g0282	1	360	0.0028	27	c.43 others(38): Show c.4376_*4377insGAAAGAAGGAAAGAAAGAAAGAAAGGA		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding					2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879801	T T	TTCCTTCC others(20): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0121	1	360	0.0028	27	c.43 others(38): Show c.4362_*4363insGGAAGGAAGGAAGGAAGGAAGGAAGGA		CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding					2538		chr16	TogoVar
CNIH3_chr1_224611317_224745554	224742807	A A	ATCCAGAC others(20): Show ATCCAGACTGTATCACCATCCTTACTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	358	0.0028	27	c.34 others(38): Show c.3451_*3452insTCCAGACTGTATCACCATCCTTACTAT		CNIH3	ENSG00000143786.8	transcript	ENST00000272133.4	protein_coding					2254		chr1	TogoVar
CNKSR2_chrX_21369418_21659689	21473745	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG03486.hp1 HG02886.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0041 a0001c0001t0006 a0001c0001t0009 a0001c0001t0041	a0001c0001t0006g0159 a0001c0001t0009g0013 a0001c0001t0041g0009 a0001c0001t0006g0159 a0001c0001t0009g0013 a0001c0001t0041g0009	3	163	0.0184	27	c.561 others(44): Show c.561+2957_561+2958insTTTTTTTTTTTTTTTTTTTTTTTTTTT		CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	5/21					INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR3_chr6_154382515_154515685	154415228	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02083.hp2 HG02280.hp2 others(4): Show HG00597.hp2 HG02083.hp2 HG02280.hp2 HG03492.hp2 NA18945.hp2 NA18971.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0080 a0001c0001t0087 others(2): Show a0001c0001t0004 a0001c0001t0080 a0001c0001t0087 a0001c0001t0105 a0001c0003t0124	a0001c0001t0004g0115 a0001c0001t0004g0172 a0001c0001t0004g0311 others(4): Show a0001c0001t0004g0115 a0001c0001t0004g0172 a0001c0001t0004g0311 a0001c0001t0080g0183 a0001c0001t0087g0086 a0001c0001t0105g0327 a0001c0003t0124g0151	7	342	0.0205	27	c.946 others(42): Show c.946-806_946-805insAAAAAAAAAAAAAAAAAAAAAAAAAAA		CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding	9/12						chr6	TogoVar
CNNM2_chr10_102913294_103095222	102976611	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0238 a0001c0002t0009g0238	1	270	0.0037	27	c.162 others(48): Show c.1621+56512_1621+56538dupTTTTTTTTTTTTTTTTTTTTTTTT TTT		CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA19067.hp1 HG02135.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0120 a0001c0001t0001g0079 a0001c0001t0001g0120	2	354	0.0057	27	c.159 others(46): Show c.1596-4968_1596-4967insAAAAAAATATATATATATATATATAT A		CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19074.hp2 HG02083.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0178 a0001c0003t0001g0145 a0001c0001t0001g0178 a0001c0003t0001g0145	2	354	0.0057	27	c.159 others(46): Show c.1596-4968_1596-4967insAAATATATATATATATATATATATAT A		CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT2_chr12_70238433_70359993	70346979	T T	TAGAGAAT others(20): Show TAGAGAATATATTATTCTCTACATGTGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG01069.hp2 others(33): Show HG00323.hp1 HG00609.hp1 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01192.hp1 HG01255.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp1 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03486.hp1 HG03710.hp1 HG04204.hp1 NA18906.hp1 NA18942.hp2 NA18954.hp2 NA18970.hp2 NA18977.hp1 NA18980.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18997.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0006g0005 others(33): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0006g0005 a0001c0002t0001g0248 a0001c0002t0001g0265 a0001c0002t0003g0241 a0001c0004t0001g0244 a0001c0004t0001g0245 a0001c0004t0001g0246 a0001c0004t0001g0247 a0001c0004t0001g0249 a0001c0004t0001g0251 a0001c0004t0001g0254 a0001c0004t0001g0256 a0001c0004t0001g0258 a0001c0004t0001g0260 a0001c0004t0001g0261 a0001c0004t0001g0263 a0001c0004t0001g0266 a0001c0004t0001g0267 a0001c0004t0001g0268 a0001c0004t0001g0271 a0001c0004t0001g0272 a0001c0004t0003g0242 a0001c0004t0003g0243 a0001c0004t0003g0253 a0001c0004t0003g0255 a0001c0004t0003g0257 a0001c0004t0003g0262 a0001c0004t0003g0270 a0001c0004t0003g0273 a0001c0005t0001g0250 a0001c0005t0001g0252 a0001c0005t0001g0259 a0001c0005t0001g0264 a0001c0005t0001g0269	36	280	0.1286	27	c.153 others(44): Show c.1536+668_1536+694dupATTCTCTACATGTGGAGAGAATATATT		CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT3_chr19_54132762_54160681	54133749	T T	TCTCTCCA others(20): Show TCTCTCCACCTCCCCTCTCTCTTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	223	0.0045	27	c.-42 others(38): Show c.-4295_-4294insCTCTCCACCTCCCCTCTCTCTTCCTCC		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					4012		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133853	T T	TCTCTCTC others(20): Show TCTCTCTCTTCCTCCCTCTCCACCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	223	0.0045	27	c.-41 others(38): Show c.-4191_-4190insCTCTCTCTTCCTCCCTCTCCACCTCCC		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3908		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133990	T T	TCCCTCTC others(20): Show TCCCTCTCTCCACCTTCCCTCTCTCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02273.hp1 HG02809.hp1 others(2): Show HG00408.hp2 HG02273.hp1 HG02809.hp1 HG03654.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0016 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0109	5	223	0.0224	27	c.-40 others(38): Show c.-4054_-4053insCCCTCTCTCCACCTTCCCTCTCTCCAC		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3771		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54134282	C C	CCTCCCTC others(20): Show CCTCCCTCCCTCTCTCCACCTTCCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	223	0.0090	27	c.-37 others(38): Show c.-3762_-3761insCTCCCTCCCTCTCTCCACCTTCCCTCT		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3479		chr19	TogoVar
CNOT6L_chr4_77708387_77824368	77807276	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0090 a0001c0001t0010g0090	1	328	0.0031	27	c.5+1 others(42): Show c.5+12027_5+12028insTTTTTTTTTTTTTTTTTTTTTTTTTTT		CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11						chr4	TogoVar
CNPPD1_chr2_219166897_219181925	219176324	G G	GGGGAACA others(20): Show GGGGAACATCAGCTGGTCCAGGGAGGAA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	NA19086.hp1 NA19086.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0007 a0008c0017t0007	a0008c0017t0007g0034 a0008c0017t0007g0034	1	432	0.0023	27	c.76_ others(32): Show c.76_77insTTCCTCCCTGGACCAGCTGATGTTCCC	p.Leu others(38): Show p.Leu25_Pro26insLeuProProTrpThrSerTerCysSer	CNPPD1	ENSG00000115649.16	transcript	ENST00000360507.10	protein_coding	2/8	173/2019	76/1233	26/410			chr2	TogoVar
CNPY1_chr7_155496129_155551559	155527055	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	426	0.0024	27	c.100 others(46): Show c.100-17959_100-17958insGAAAGAAAGAAAGAAAGAAAGAAAGA A		CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4						chr7	TogoVar
CNR2_chr1_23865515_23918362	23869244	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0212 a0001c0001t0010g0212	1	268	0.0037	27	c.52 others(38): Show c.5290_*5291insCCTTCCTTCCTTCCTTCCTTCCTTCCT		CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding					1270		chr1	TogoVar
CNR2_chr1_23865515_23918362	23899908	A A	AAAGAAAA others(20): Show AAAGAAAAGAAAGAAAGAGGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0218 a0001c0001t0008g0218	1	268	0.0037	27	c.-46 others(46): Show c.-46+13337_-46+13338insCTTCCTTCCCTCTTTCTTTCTTTTCT T		CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1						chr1	TogoVar
CNRIP1_chr2_68288010_68324949	68306124	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	424	0.0024	27	c.330 others(46): Show c.330+11006_330+11032dupTTTTTTTTTTTTTTTTTTTTTTTTTT T		CNRIP1	ENSG00000119865.9	transcript	ENST00000263655.4	protein_coding	2/2						chr2	TogoVar
CNST_chr1_246561456_246673595	246612686	A A	AGACCAGT others(20): Show AGACCAGTCTGAGCAACATGGTGAAACC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	320	0.0031	27	c.380 others(44): Show c.380-8742_380-8716dupGACCAGTCTGAGCAACATGGTGAAACC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTLN_chr9_17130040_17508923	17202646	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02976.hp1 NA18986.hp1 HG02155.hp1 HG02976.hp1 NA18986.hp1	a0003 a0006 a0003 a0006	a0003c0002 a0006c0043 a0003c0002 a0006c0043	a0003c0002t0001 a0003c0002t0016 a0006c0043t0002 a0003c0002t0001 a0003c0002t0016 a0006c0043t0002	a0003c0002t0001g0061 a0003c0002t0016g0070 a0006c0043t0002g0081 a0003c0002t0001g0061 a0003c0002t0016g0070 a0006c0043t0002g0081	3	218	0.0138	27	c.450 others(46): Show c.450-23533_450-23532insTTTTTTTTTTTTTTTTTTTTTTTTTT T		CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17359725	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAACCAAAAA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0059 a0003c0002t0001g0059	1	218	0.0046	27	c.188 others(46): Show c.1887-6872_1887-6871insCCAAAAAAAAAAAAAAAAAAAAAAAA A		CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	12/25					INFO_REALIGN_3_PRIME	chr9	TogoVar

Search by Variant

Search

Search Results (Total: 7463 hits)