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
CCL3_chr17_36083256_36095143	36091529	A A	ATACATAA others(19): Show ATACATAATTTCAGTGGTGTGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	381	0.0026	26	c.-14 others(37): Show c.-1472_-1471insCCCTTCCACACCACTGAAATTATGTA	CCL3	ENSG00000277632.2	transcript	ENST00000613922.2	protein_coding		1387		chr17	TogoVar
CCL4_chr17_36098827_36110614	36101028	G G	GACATATA others(19): Show GACATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01106.hp2 HG01168.hp2 others(35): Show HG00423.hp1 HG01106.hp2 HG01168.hp2 HG01243.hp1 HG01358.hp2 HG02055.hp1 HG02055.hp2 HG02300.hp1 HG02523.hp1 HG02615.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG03139.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG04184.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18962.hp1 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA19002.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19060.hp2 NA19080.hp1 NA19084.hp1 NA19086.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0002g0003 a0001c0001t0004g0012 a0001c0001t0004g0022	38	413	0.0920	26	c.-28 others(37): Show c.-2878_-2877insACATATATATATATATATATATATAT	CCL4	ENSG00000275302.2	transcript	ENST00000615863.2	protein_coding		2798		chr17	TogoVar
CCN4_chr8_133186039_133236690	133213871	C C	CACTATAT others(19): Show CACTATATAGTAGTTATATATACTACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	396	0.0025	26	c.349 others(41): Show c.349+728_349+729insACTATATAGTAGTTATATATACTACA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4			chr8	TogoVar
CCN4_chr8_133186039_133236690	133213900	C C	CACTATAT others(19): Show CACTATATAGTAGTTATATATACTACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00735.hp1 others(6): Show HG00140.hp2 HG00280.hp1 HG00735.hp1 HG02451.hp2 HG02486.hp1 HG03139.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0016 a0002c0004t0004 a0001c0001t0001 a0001c0001t0016 a0002c0004t0004	a0001c0001t0001g0222 a0001c0001t0016g0060 a0002c0004t0004g0004 others(5): Show a0001c0001t0001g0222 a0001c0001t0016g0060 a0002c0004t0004g0004 a0002c0004t0004g0046 a0002c0004t0004g0080 a0002c0004t0004g0089 a0002c0004t0004g0223 a0002c0004t0004g0359	9	396	0.0227	26	c.349 others(41): Show c.349+757_349+758insACTATATAGTAGTTATATATACTACA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4			chr8	TogoVar
CCN4_chr8_133186039_133236690	133217936	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	396	0.0025	26	c.350 others(43): Show c.350-2620_350-2619insACACACACACACACACACACACACAC	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133217936	C C	CCACACAC others(19): Show CCACACACACACACGCACACACACACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01516.hp1 HG00741.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0115 a0001c0001t0001g0061 a0001c0001t0001g0115	2	396	0.0051	26	c.350 others(43): Show c.350-2632_350-2631insGCACACACACACACACACACACACAC	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCNB1_chr5_69162150_69183245	69164026	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	420	0.0024	26	c.-32 others(37): Show c.-3237_-3236insAAAAAAAAAAAAAAAAAAAAATATAT	CCNB1	ENSG00000134057.15	transcript	ENST00000256442.10	protein_coding		3123		chr5	TogoVar
CCNB1_chr5_69162150_69183245	69164026	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	420	0.0024	26	c.-32 others(37): Show c.-3237_-3236insAAAAAAAAAAATATATATATATATAT	CCNB1	ENSG00000134057.15	transcript	ENST00000256442.10	protein_coding		3123		chr5	TogoVar
CCNB1_chr5_69162150_69183245	69175982	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18984.hp2 NA19059.hp1 NA18970.hp1 NA18984.hp2 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0114	3	420	0.0071	26	c.108 others(43): Show c.1083+453_1083+478dupTATATATATATATATATATATATATA	CCNB1	ENSG00000134057.15	transcript	ENST00000256442.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CCND2_chr12_4268762_4310353	4291207	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp2 HG01167.hp2 others(42): Show HG00558.hp2 HG01109.hp2 HG01167.hp2 HG01255.hp1 HG01496.hp1 HG01884.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02135.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02572.hp2 HG02622.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18955.hp1 NA18961.hp1 NA18964.hp1 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19058.hp2 NA19070.hp2 NA19081.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0028 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0050 a0001c0001t0054 a0001c0001t0058 a0001c0001t0078 a0001c0002t0002 a0001c0002t0004 a0001c0002t0017 a0001c0002t0090	a0001c0001t0001g0025 a0001c0001t0001g0085 a0001c0001t0001g0106 others(39): Show a0001c0001t0001g0025 a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0275 a0001c0001t0001g0312 a0001c0001t0002g0127 a0001c0001t0002g0133 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0307 a0001c0001t0002g0350 a0001c0001t0004g0082 a0001c0001t0005g0040 a0001c0001t0005g0057 a0001c0001t0006g0306 a0001c0001t0006g0344 a0001c0001t0008g0011 a0001c0001t0008g0145 a0001c0001t0008g0252 a0001c0001t0009g0276 a0001c0001t0012g0055 a0001c0001t0012g0160 a0001c0001t0012g0277 a0001c0001t0014g0189 a0001c0001t0014g0190 a0001c0001t0019g0313 a0001c0001t0028g0314 a0001c0001t0038g0210 a0001c0001t0039g0278 a0001c0001t0040g0125 a0001c0001t0050g0078 a0001c0001t0054g0274 a0001c0001t0058g0219 a0001c0001t0078g0191 a0001c0002t0002g0217 a0001c0002t0004g0025 a0001c0002t0004g0084 a0001c0002t0004g0269 a0001c0002t0004g0348 a0001c0002t0017g0168 a0001c0002t0090g0216	45	460	0.0978	26	c.720 others(43): Show c.720+2219_720+2244dupGTGTGTGTGTGTGTGTGTGTGTGTGT	CCND2	ENSG00000118971.9	transcript	ENST00000261254.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCNJ_chr10_96038583_96065870	96040787	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0001	1	418	0.0024	26	c.-29 others(37): Show c.-2974_-2973insATATATATATATATATATATATATAT	CCNJ	ENSG00000107443.16	transcript	ENST00000465148.3	protein_coding		2795		chr10	TogoVar
CCNT2_chr2_134913822_134964342	134928274	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp1 NA20300.hp1 HG02572.hp2 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0275 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0275	3	404	0.0074	26	c.240 others(43): Show c.240+8402_240+8403insTTTTTTTTTTTTTTTTTTTTTTTTTT	CCNT2	ENSG00000082258.13	transcript	ENST00000264157.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCNT2_chr2_134913822_134964342	134929613	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01123.hp1 HG02155.hp1 others(10): Show HG00597.hp2 HG01123.hp1 HG02155.hp1 HG03831.hp2 NA18612.hp1 NA18951.hp2 NA18957.hp1 NA18972.hp2 NA18974.hp2 NA18982.hp2 NA19001.hp2 NA19087.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0113 a0001c0001t0004g0032 a0001c0001t0004g0224 others(9): Show a0001c0001t0001g0113 a0001c0001t0004g0032 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0264 a0001c0001t0004g0273 a0001c0001t0005g0222 a0001c0001t0005g0307	13	404	0.0322	26	c.241 others(43): Show c.241-7205_241-7204insGAGAGAGAGAGAGAGAGAGAGAGAGA	CCNT2	ENSG00000082258.13	transcript	ENST00000264157.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCNT2_chr2_134913822_134964342	134931262	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03195.hp2 HG02523.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0109 a0001c0001t0005g0329 a0001c0001t0001g0109 a0001c0001t0005g0329	2	404	0.0050	26	c.241 others(43): Show c.241-5554_241-5553insTTTTTTTTTTTTTTTTTTTTTTTTTT	CCNT2	ENSG00000082258.13	transcript	ENST00000264157.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCNYL1_chr2_207706640_207761174	207708084	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG03209.hp1 HG02257.hp2 HG02280.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0301 a0001c0001t0003g0305 a0001c0001t0005g0298 a0001c0001t0003g0301 a0001c0001t0003g0305 a0001c0001t0005g0298	3	354	0.0085	26	c.-38 others(37): Show c.-3813_-3812insTTTTTTTTTTTTTTTTTTTTTTTTTT	CCNYL1	ENSG00000163249.13	transcript	ENST00000295414.8	protein_coding		3555		chr2	TogoVar
CCNY_chr10_35331509_35577667	35419533	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02922.hp2 HG01106.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0009 a0001c0001t0004g0015 a0001c0001t0002g0009 a0001c0001t0004g0015	2	296	0.0068	26	c.155 others(45): Show c.155-63856_155-63855insTTTTTTTTTTTTTTTTTTTTTTTTTT	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCNY_chr10_35331509_35577667	35465938	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02145.hp1 HG03831.hp2 others(1): Show HG00738.hp2 HG02145.hp1 HG03831.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0032 a0001c0001t0004g0013 a0001c0001t0004g0020 others(1): Show a0001c0001t0002g0032 a0001c0001t0004g0013 a0001c0001t0004g0020 a0001c0001t0005g0121	4	296	0.0135	26	c.155 others(45): Show c.155-17465_155-17464insAGAGAGAGAGAGAGAGAGAGTGTGTG	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCR3_chr3_46237460_46271706	46242982	C C	CATATATA others(19): Show CATATATATATATATATATACACATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19030.hp1 HG02615.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0133 a0001c0001t0001g0134	2	408	0.0049	26	c.-12 others(41): Show c.-12+463_-12+464insCACATATATATATATATATATATATA	CCR3	ENSG00000183625.16	transcript	ENST00000395940.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCR8_chr3_39324709_39338680	39337233	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00597.hp2 others(40): Show HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01978.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02486.hp2 HG02523.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03927.hp2 HG04204.hp2 NA18944.hp2 NA18952.hp1 NA18956.hp1 NA18967.hp1 NA18969.hp1 NA18973.hp1 NA19002.hp1 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0002c0002t0001g0003 a0002c0002t0001g0035 a0004c0005t0001g0002	43	398	0.1080	26	c.38 others(37): Show c.3834_*3835insATATATATATATATATATATATATAT	CCR8	ENSG00000179934.7	transcript	ENST00000326306.5	protein_coding		3554		chr3	TogoVar
CCR9_chr3_45881543_45908174	45890269	A A	ATATATTT others(19): Show ATATATTTATATAAATATATATATAAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0057 a0001c0001t0016g0057	1	424	0.0024	26	c.-29 others(43): Show c.-29+3614_-29+3615insTATATTTATATAAATATATATATAAC	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2			chr3	TogoVar
CCSER1_chr4_90122394_91610295	90359889	G G	GTGTATAT others(19): Show GTGTATATATATGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp1 HG03139.hp2 HG01192.hp1 HG01884.hp1 HG03139.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0011 a0001c0003t0002 a0003c0005t0010 a0001c0001t0011 a0001c0003t0002 a0003c0005t0010	a0001c0001t0011g0003 a0001c0003t0002g0015 a0003c0005t0010g0004 a0001c0001t0011g0003 a0001c0003t0002g0015 a0003c0005t0010g0004	3	38	0.0790	26	c.151 others(47): Show c.1510-40144_1510-40143insATATATATGTGTGTATATATATAT GT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90391504	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	38	0.0263	26	c.151 others(45): Show c.1510-8530_1510-8505dupTATATATATATATATATATATATATA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90413979	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	38	0.0263	26	c.160 others(47): Show c.1603+13851_1603+13852insTATATATATATATATATATATATA TA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90574247	A A	ATAATTTT others(19): Show ATAATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	38	0.0263	26	c.172 others(47): Show c.1725-53777_1725-53776insAATTTTTTTTTTTTTTTTTTTTTT TT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90811995	C C	CACACACA others(19): Show CACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0037 a0001c0001t0009g0037	1	38	0.0263	26	c.201 others(45): Show c.2011-3766_2011-3765insCACACACACATATATATATATATATA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91296483	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0037 a0001c0001t0009g0037	1	38	0.0263	26	c.221 others(49): Show c.2217+210492_2217+210493insATATATATATATATATATTTAT TTAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91296483	A A	ATATATAT others(19): Show ATATATATATATATATATTTATTTATT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	38	0.0263	26	c.221 others(49): Show c.2217+210492_2217+210493insATATATATATATATTTATTTAT TTAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER2_chr10_84323589_84523517	84483953	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0095 a0002c0002t0005g0095	1	370	0.0027	26	c.232 others(45): Show c.2325+6308_2325+6333dupTATATATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCT7_chr2_73229308_73258005	73252324	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	378	0.0027	26	c.141 others(43): Show c.1411-314_1411-289dupTATATATATATATATATATATATATA	CCT7	ENSG00000135624.17	transcript	ENST00000258091.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCZ1B_chr7_6793937_6831275	6797872	C C	CACACACA others(19): Show CACACACACACACACACACACAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01433.hp1 HG00323.hp2 HG01433.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0205 a0001c0005t0002g0211 a0001c0005t0002g0205 a0001c0005t0002g0211	2	354	0.0057	26	c.13 others(37): Show c.1351_*1352insATATTTGTGTGTGTGTGTGTGTGTGT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		1064		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6825641	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01934.hp2 others(4): Show HG01070.hp2 HG01071.hp1 HG01934.hp2 HG02004.hp2 NA18940.hp2 NA19072.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0194 a0001c0001t0002g0293 others(3): Show a0001c0001t0002g0026 a0001c0001t0002g0194 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296	7	354	0.0198	26	c.120 others(41): Show c.120+436_120+437insTGTGTGTGTGTGTGTGTGTGTGTGTG	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	1/14			chr7	TogoVar
CCZ1_chr7_5893733_5931550	5914250	T T	TAGTAAGA others(19): Show TAGTAAGACCCTGTGTCGACAGGAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0053 a0001c0001t0021g0053	1	114	0.0088	26	c.954 others(43): Show c.954+1297_954+1322dupAGTAAGACCCTGTGTCGACAGGAAAA	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCZ1_chr7_5893733_5931550	5916493	G G	GTTGTGTT others(19): Show GTTGTGTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02080.hp2 HG00733.hp1 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0013 a0001c0004t0005 a0001c0004t0013	a0001c0004t0005g0016 a0001c0004t0013g0011 a0001c0004t0005g0016 a0001c0004t0013g0011	2	114	0.0175	26	c.955 others(43): Show c.955-2372_955-2371insGTGTTGTTTTTTTTTTTTTTTTTTTT	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCZ1_chr7_5893733_5931550	5920470	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG01071.hp1 others(4): Show HG00099.hp2 HG00621.hp2 HG01071.hp1 HG02109.hp1 HG02165.hp2 HG03225.hp1 HG03654.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0002 a0001c0001t0021 a0004c0011t0004 a0001c0001t0002 a0001c0001t0021 a0004c0011t0004	a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0055 others(4): Show a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0021g0053 a0004c0011t0004g0097	7	114	0.0614	26	c.110 others(43): Show c.1106+521_1106+522insTTTTTTTTTTTTTTTTTTTTTTTTTT	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CD163L1_chr12_7349960_7449153	7421041	A A	ATATATAT others(19): Show ATATATATACATATATATATATACGTG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19083.hp1 NA18961.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0001g0210 a0001c0001t0001g0228	2	384	0.0052	26	c.766 others(45): Show c.766+11374_766+11375insCACGTATATATATATATGTATATATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7421077	A A	ATATATAC others(19): Show ATATATACGTATATATGTATATATACG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02970.hp1 NA18522.hp2 HG01884.hp1 HG02970.hp1 NA18522.hp2	a0004 a0004	a0004c0006 a0004c0012 a0004c0006 a0004c0012	a0004c0006t0002 a0004c0012t0001 a0004c0006t0002 a0004c0012t0001	a0004c0006t0002g0333 a0004c0012t0001g0334 a0004c0012t0001g0335 a0004c0006t0002g0333 a0004c0012t0001g0334 a0004c0012t0001g0335	3	384	0.0078	26	c.766 others(45): Show c.766+11338_766+11339insCGTATATATACATATATACGTATATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7421542	C C	CACACATA others(19): Show CACACATATGTATATATACATATATGT	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA19083.hp2 HG01993.hp1 NA19083.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0146 a0007c0010t0001g0176 a0001c0001t0001g0146 a0007c0010t0001g0176	2	384	0.0052	26	c.766 others(45): Show c.766+10873_766+10874insACATATATGTATATATACATATGTGT	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	4/19			chr12	TogoVar
CD163_chr12_7465811_7508777	7483841	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0205 a0001c0003t0001g0205	1	428	0.0023	26	c.278 others(43): Show c.2780-167_2780-166insAAAATATATATATATATATATATATA	CD163	ENSG00000177575.13	transcript	ENST00000432237.3	protein_coding	11/16			chr12	TogoVar
CD19_chr16_28926971_28944342	28929887	T T	TAGAGAGA others(19): Show TAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	26	c.-21 others(37): Show c.-2114_-2113insAGAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2083		chr16	TogoVar
CD19_chr16_28926971_28944342	28929891	T T	TAGAGAGA others(19): Show TAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	400	0.0025	26	c.-21 others(37): Show c.-2110_-2109insAGAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2079		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TAGAGAGA others(19): Show TAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0001 a0001c0005t0001g0001	1	400	0.0025	26	c.-21 others(37): Show c.-2108_-2107insAGAGAGAGAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATATATA others(19): Show TATATATATAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	26	c.-21 others(37): Show c.-2108_-2107insATATATATAGAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929893	T T	TATATATA others(19): Show TATATATATATATAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	400	0.0025	26	c.-21 others(37): Show c.-2108_-2107insATATATATATATAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2077		chr16	TogoVar
CD19_chr16_28926971_28944342	28929931	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	400	0.0025	26	c.-20 others(37): Show c.-2070_-2069insAGAGAGAGAGAGAGAGAGAGAGAGAA	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2039		chr16	TogoVar
CD200R1_chr3_112916205_112980103	112917554	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0179 a0001c0003t0003g0179	1	416	0.0024	26	c.61 others(37): Show c.6122_*6123insTTTTTTTTTTTTTTTTTTTTTTTTTT	CD200R1	ENSG00000163606.11	transcript	ENST00000308611.8	protein_coding		3650		chr3	TogoVar
CD200R1_chr3_112916205_112980103	112978638	A A	ACTATTAG others(19): Show ACTATTAGACTAACAGTAAACTTAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	416	0.0024	26	c.-37 others(37): Show c.-3782_-3781insATTTAAGTTTACTGTTAGTCTAATAG	CD200R1	ENSG00000163606.11	transcript	ENST00000308611.8	protein_coding		3536		chr3	TogoVar
CD226_chr18_69848274_69952873	69851192	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00642.hp1 others(9): Show HG00099.hp2 HG00597.hp1 HG00642.hp1 HG00733.hp1 HG01071.hp2 HG01175.hp2 HG01358.hp2 HG02300.hp1 HG03491.hp2 HG04228.hp1 NA19060.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0002 a0002c0002t0006 a0002c0002t0007 others(8): Show a0001c0001t0002 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0019 a0002c0002t0034 a0002c0002t0039 a0002c0002t0098 a0002c0002t0104 a0002c0002t0121 a0002c0004t0034	a0001c0001t0002g0167 a0002c0002t0006g0217 a0002c0002t0007g0145 others(9): Show a0001c0001t0002g0167 a0002c0002t0006g0217 a0002c0002t0007g0145 a0002c0002t0007g0228 a0002c0002t0008g0041 a0002c0002t0019g0160 a0002c0002t0034g0128 a0002c0002t0039g0186 a0002c0002t0098g0149 a0002c0002t0104g0227 a0002c0002t0121g0200 a0002c0004t0034g0136	12	256	0.0469	26	c.13 others(39): Show c.13121_*13122insAAAAAAAAAAAAAAAAAAAAAAAAAA	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding		2081		chr18	TogoVar
CD226_chr18_69848274_69952873	69861554	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG03225.hp1 HG03688.hp2 others(2): Show HG02723.hp1 HG03225.hp1 HG03688.hp2 NA19090.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0073 a0002c0002t0074 a0002c0002t0075 others(2): Show a0002c0002t0073 a0002c0002t0074 a0002c0002t0075 a0002c0002t0114 a0002c0002t0115	a0002c0002t0073g0063 a0002c0002t0074g0051 a0002c0002t0075g0062 others(2): Show a0002c0002t0073g0063 a0002c0002t0074g0051 a0002c0002t0075g0062 a0002c0002t0114g0204 a0002c0002t0115g0199	5	256	0.0195	26	c.27 others(37): Show c.2759_*2760insTATATATATATATATATATATATATA	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	6/6	2759		chr18	TogoVar
CD2AP_chr6_47472789_47632263	47566323	T T	TATATACA others(19): Show TATATACATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0098 a0001c0001t0055g0098	1	322	0.0031	26	c.542 others(43): Show c.542-7740_542-7739insTATACATATATATATATATACACACA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47566323	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01243.hp1 HG01358.hp1 others(5): Show HG01123.hp2 HG01243.hp1 HG01358.hp1 HG01496.hp2 HG02258.hp2 HG02615.hp2 HG02965.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0021 a0002c0002t0001	a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0266 others(5): Show a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0005g0271 a0001c0001t0021g0286 a0002c0002t0001g0276 a0002c0002t0001g0278 a0002c0002t0001g0280	8	322	0.0248	26	c.542 others(43): Show c.542-7740_542-7739insTATATATATATATATATATACACACA	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)