Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TOGARAM1_chr14_44957190_45079431	44964851	C C	CTGGGAAT others(35): Show CTGGGAATTAGCAGTTAACAAATTCGTTAAGTGCTAAAGTAGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	178	0.0056	42	c.204 others(59): Show c.2046+385_2046+426dupTGGGAATTAGCAGTTAACAAATTCGTTA AGTGCTAAAGTAGA	TOGARAM1	ENSG00000198718.13	transcript	ENST00000361462.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr14	TogoVar
TOLLIP_chr11_1269371_1314632	1287391	T T	TGCAGCCT others(35): Show TGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01978.hp1 HG01175.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0180 a0001c0001t0005g0298 a0001c0001t0001g0180 a0001c0001t0005g0298	2	348	0.0058	42	c.519 others(59): Show c.519+1232_519+1233insGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287409	G G	GCCTCCCC others(35): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 NA19064.hp2 HG00438.hp1 HG00621.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0224 a0001c0001t0001g0306 a0001c0002t0002g0144 a0001c0001t0001g0224 a0001c0001t0001g0306 a0001c0002t0002g0144	3	348	0.0086	42	c.519 others(59): Show c.519+1214_519+1215insGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287451	C C	CCCTCCCC others(35): Show CCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	348	0.0029	42	c.519 others(59): Show c.519+1172_519+1173insCTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287484	C C	CCCGCCGC others(35): Show CCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0309 a0001c0001t0004g0309	1	348	0.0029	42	c.519 others(59): Show c.519+1139_519+1140insTGAGGCTGCGGCGGGGAGGGTGCGGCGG TGAGGCTGCGGCGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287521	G G	GCCTCCCC others(35): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0219 a0001c0016t0002g0219	1	348	0.0029	42	c.519 others(59): Show c.519+1102_519+1103insGTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287535	G G	GCCTCCCC others(35): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	348	0.0029	42	c.519 others(59): Show c.519+1088_519+1089insGTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287563	G G	GCCTCCCC others(35): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	348	0.0029	42	c.519 others(59): Show c.519+1019_519+1060dupGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287577	C C	CCCTCCCC others(35): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	348	0.0029	42	c.519 others(59): Show c.519+1046_519+1047insCTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287605	C C	CCCTCCCC others(35): Show CCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0164	1	348	0.0029	42	c.519 others(59): Show c.519+1018_519+1019insCTGCGGCGGGGAGGGTGCGGCGGGGAGG GTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287619	G G	GCCTCCCC others(35): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01515.hp2 HG02273.hp1 others(1): Show HG01192.hp2 HG01515.hp2 HG02273.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0003 a0002c0003t0003 a0001c0001t0001 a0001c0002t0003 a0002c0003t0003	a0001c0001t0001g0102 a0001c0002t0003g0187 a0001c0002t0003g0194 others(1): Show a0001c0001t0001g0102 a0001c0002t0003g0187 a0001c0002t0003g0194 a0002c0003t0003g0106	4	348	0.0115	42	c.519 others(59): Show c.519+1004_519+1005insGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287647	C C	CCCTCCCC others(35): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0255 a0001c0002t0016g0255	1	348	0.0029	42	c.519 others(57): Show c.519+935_519+976dupCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287661	G G	GCCTCCCC others(35): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	348	0.0029	42	c.519 others(57): Show c.519+962_519+963insGTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287675	C C	CCCTCCCC others(35): Show CCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	348	0.0029	42	c.519 others(57): Show c.519+948_519+949insCTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287675	C C	CCCTCCCC others(35): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0276 a0001c0002t0002g0276	1	348	0.0029	42	c.519 others(57): Show c.519+948_519+949insCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287689	G G	GCCTCCCC others(35): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20300.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0269 a0001c0001t0002g0271	2	348	0.0058	42	c.519 others(57): Show c.519+934_519+935insGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287689	G G	GCCTCCCC others(35): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0183 a0001c0002t0020g0183	1	348	0.0029	42	c.519 others(57): Show c.519+934_519+935insGTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287700	G G	GCACCCTC others(35): Show GCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0144 a0001c0002t0002g0144	1	348	0.0029	42	c.519 others(57): Show c.519+923_519+924insGGGCGGGGAGGCTGCGGCGGGGAGGCTGCG GCGGGGAGGGTG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287744	A A	ACCCTCTC others(35): Show ACCCTCTCTGCCGCGGCCTCCCCGCCGCACCCTCTCTGCCGCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	348	0.0029	42	c.519 others(57): Show c.519+879_519+880insCGCGGCAGAGAGGGTGCGGCGGGGAGGCCG CGGCAGAGAGGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287773	G G	GCCTCCCC others(35): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	348	0.0029	42	c.519 others(57): Show c.519+850_519+851insGTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287808	C C	CGCCGCAC others(35): Show CGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	348	0.0029	42	c.519 others(57): Show c.519+815_519+816insAGAGAGGGTGCGGCGGGGAGGCTGCGGCGG GGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287808	C C	CGCCGCAC others(35): Show CGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03540.hp2 HG02559.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0022 a0001c0001t0001g0023	2	348	0.0058	42	c.519 others(57): Show c.519+815_519+816insAGAGAGGGTGCGGCGGGGAGGCTGCGGCAG AGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287808	C C	CGCCGCGG others(35): Show CGCCGCGGCCTCCCCGCCGCGGCCTCCCTGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0122 a0001c0002t0006g0122	1	348	0.0029	42	c.519 others(57): Show c.519+815_519+816insAGAGAGGGTGCGGCAGGGAGGCCGCGGCGG GGAGGCCGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287811	C C	CGCACCCT others(35): Show CGCACCCTCTCTGCTGCAGCCTTCCTGCCGCACCCTCTCTGCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp1 NA20300.hp2 HG03471.hp1 HG03486.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0025 a0001c0005t0004 a0001c0001t0025 a0001c0005t0004	a0001c0001t0025g0101 a0001c0005t0004g0012 a0001c0001t0025g0101 a0001c0005t0004g0012	3	348	0.0086	42	c.519 others(57): Show c.519+812_519+813insAGCAGAGAGGGTGCGGCAGGAAGGCTGCAG CAGAGAGGGTGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287820	C C	CCCGCCGC others(35): Show CCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	348	0.0029	42	c.519 others(57): Show c.519+803_519+804insTGAGGCTGCGGCGGGGAGGCTGCGGCGGGG AGGGTGCGGCGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAC others(35): Show CGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20300.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0269 a0001c0001t0002g0271	2	348	0.0058	42	c.519 others(57): Show c.519+787_519+788insAGAGAGGGTGCGGCGGGGAGGGTGCGGCGG GGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAC others(35): Show CGCCGCACCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03239.hp1 NA19030.hp2 HG00639.hp1 HG03239.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0217 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0217 a0001c0002t0002g0220 a0001c0002t0002g0221	3	348	0.0086	42	c.519 others(57): Show c.519+787_519+788insAGGGAGGCTGCGGCAGAGAGGGTGCGGCGG GGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAG others(35): Show CGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp1 HG02895.hp1 others(1): Show HG02559.hp1 HG02723.hp1 HG02895.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0275 others(1): Show a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0275 a0001c0002t0002g0276	4	348	0.0115	42	c.519 others(57): Show c.519+787_519+788insAGAGAGGGTGCGGCGGGGAGGGTGCGGCGG GGAGGCTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAG others(35): Show CGCCGCAGCCTCCCCGCCGCACCCTCCCTGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03490.hp1 HG00642.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0265 a0001c0002t0003g0193 a0001c0001t0002g0265 a0001c0002t0003g0193	2	348	0.0058	42	c.519 others(57): Show c.519+787_519+788insAGAGAGGGTGCGGCAGGGAGGGTGCGGCGG GGAGGCTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287848	C C	CCCGCCGC others(35): Show CCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0206 a0001c0002t0007g0206	1	348	0.0029	42	c.519 others(57): Show c.519+775_519+776insAGAGGGTGCGGCGGGGAGGGTGCGGCGGGG AGGGTGCGGCGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287876	C C	CCTGCCGC others(35): Show CCTGCCGCACCCTCTCTGCCGCAGCCTCCCTGCCGCACCCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	348	0.0029	42	c.519 others(57): Show c.519+747_519+748insAGAGGGTGCGGCAGGGAGGCTGCGGCAGAG AGGGTGCGGCAG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOMM70_chr3_100358431_100406089	100398383	C C	CATAAAAA others(35): Show CATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	398	0.0025	42	c.324 others(59): Show c.324+2242_324+2243insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTAT	TOMM70	ENSG00000154174.8	transcript	ENST00000284320.6	protein_coding	1/11			chr3	TogoVar
TOR1AIP1_chr1_179877285_179925076	179880038	A A	ATGTGTGT others(35): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0149 a0001c0003t0001g0149	1	290	0.0035	42	c.-24 others(53): Show c.-2465_-2464insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	TOR1AIP1	ENSG00000143337.19	transcript	ENST00000606911.7	protein_coding		2246		chr1	TogoVar
TOR1AIP2_chr1_179834976_179882803	179880038	A A	ATGTGTGT others(35): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0083 a0001c0001t0073g0083	1	280	0.0036	42	c.-30 others(53): Show c.-3047_-3046insCACACACACACACACACACACACACACACACACA CACACACA	TOR1AIP2	ENSG00000169905.13	transcript	ENST00000609928.6	protein_coding		2236		chr1	TogoVar
TOX2_chr20_43909852_44074616	44026248	T T	TATATATA others(35): Show TATATATATATATATATATATATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	288	0.0035	42	c.411 others(61): Show c.411+19457_411+19458insTATATATATATATATATATATATACA CACACACACACACACA	TOX2	ENSG00000124191.18	transcript	ENST00000341197.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
TOX_chr8_58800412_59124147	58998535	A A	AATAAATT others(35): Show AATAAATTTATGTAATAAATTTATATATAATAAATTTATATGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	224	0.0045	42	c.103 others(61): Show c.103-38528_103-38527insACATATAAATTTATTATATATAAATT TATTACATAAATTTAT	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP63_chr3_189626389_189902276	189875611	T T	TATATATA others(35): Show TATATATATATACACATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	312	0.0032	42	c.134 others(61): Show c.1349+2627_1349+2628insCACATATATATATATATATATATATA TACACATATATATATA	TP63	ENSG00000073282.14	transcript	ENST00000264731.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
TP63_chr3_189784659_189902276	189875611	T T	TATATATA others(35): Show TATATATATATACACATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	398	0.0025	42	c.106 others(61): Show c.1067+2627_1067+2628insCACATATATATATATATATATATATA TACACATATATATATA	TP63	ENSG00000073282.14	transcript	ENST00000354600.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
TP73_chr1_3647516_3741201	3649133	A A	ATACTAGG others(35): Show ATACTAGGCATCCGGGTTATCCCTCTCTTCTGAGGATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	358	0.0028	42	c.-35 others(53): Show c.-3542_-3541insTACTAGGCATCCGGGTTATCCCTCTCTTCTGAGG ATATACAC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding		3382		chr1	TogoVar
TPCN2_chr11_69043932_69095597	69077020	T T	TCCTGTTG others(35): Show TCCTGTTGTGTCTGTCCACTTGCCCTCCTGCCATGTCCCTCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG00642.hp2 others(30): Show HG00099.hp2 HG00621.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp2 HG01255.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG02080.hp2 HG02129.hp2 HG02145.hp1 HG02293.hp1 HG02735.hp1 HG02809.hp2 HG02976.hp2 HG03490.hp2 HG03654.hp1 NA18522.hp1 NA18747.hp2 NA18946.hp2 NA18962.hp1 NA18964.hp2 NA18971.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19064.hp1 NA21309.hp2	a0004 a0005 a0020 a0004 a0005 a0020	a0004c0006 a0004c0013 a0004c0023 others(2): Show a0004c0006 a0004c0013 a0004c0023 a0005c0004 a0020c0024	a0004c0006t0007 a0004c0006t0019 a0004c0006t0033 others(6): Show a0004c0006t0007 a0004c0006t0019 a0004c0006t0033 a0004c0013t0015 a0004c0023t0019 a0005c0004t0007 a0005c0004t0008 a0005c0004t0032 a0020c0024t0007	a0004c0006t0007g0150 a0004c0006t0019g0270 a0004c0006t0033g0207 others(25): Show a0004c0006t0007g0150 a0004c0006t0019g0270 a0004c0006t0033g0207 a0004c0013t0015g0209 a0004c0023t0019g0271 a0005c0004t0007g0026 a0005c0004t0007g0037 a0005c0004t0007g0111 a0005c0004t0007g0141 a0005c0004t0007g0142 a0005c0004t0007g0146 a0005c0004t0007g0147 a0005c0004t0007g0148 a0005c0004t0007g0161 a0005c0004t0007g0162 a0005c0004t0007g0268 a0005c0004t0007g0269 a0005c0004t0008g0010 a0005c0004t0008g0081 a0005c0004t0008g0109 a0005c0004t0008g0122 a0005c0004t0008g0138 a0005c0004t0008g0140 a0005c0004t0008g0151 a0005c0004t0008g0180 a0005c0004t0008g0225 a0005c0004t0032g0163 a0020c0024t0007g0179	33	404	0.0817	42	c.123 others(61): Show c.1231-1458_1231-1457insTTGTGTCTGTCCACTTGCCCTCCTGC CATGTCCCTCCACCTG	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPD52L1_chr6_125148773_125269407	125165092	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01928.hp2 HG02895.hp1 others(1): Show HG01106.hp1 HG01928.hp2 HG02895.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0083 a0001c0001t0001g0217 a0001c0001t0002g0003 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0217 a0001c0001t0002g0003 a0001c0001t0002g0249	4	320	0.0125	42	c.19+ others(59): Show c.19+11129_19+11130insATATATATATATATATATATATATATAT ATATATTTATATAT	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L1_chr6_125148773_125269407	125165092	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	320	0.0031	42	c.19+ others(59): Show c.19+11129_19+11130insATATATATATATATATATATATATATAT ATTTATTTATATAT	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52L1_chr6_125148773_125269407	125165092	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	320	0.0031	42	c.19+ others(59): Show c.19+11129_19+11130insATATATATATATATATATATATTTATTT ATTTATTTATATAT	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPD52_chr8_80029745_80176564	80072798	C C	CACATATA others(35): Show CACATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	228	0.0044	42	c.20- others(57): Show c.20-8206_20-8205insATATATATATATATATATATATATATATAT ATATATATATGT	TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7			chr8	TogoVar
TPH2_chr12_71933845_72037440	71982015	A A	ATTTTTTT others(35): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02280.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0237 a0001c0003t0001g0239 a0001c0003t0001g0237 a0001c0003t0001g0239	2	334	0.0060	42	c.941 others(59): Show c.941+2945_941+2946insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	TPH2	ENSG00000139287.13	transcript	ENST00000333850.4	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
TPST1_chr7_66200334_66365443	66276365	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02683.hp2 HG04184.hp1 others(2): Show HG00438.hp2 HG02683.hp2 HG04184.hp1 NA18960.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0002g0025 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0002g0025 a0001c0001t0002g0142 a0001c0001t0003g0332	5	346	0.0145	42	c.846 others(61): Show c.846-10130_846-10129insATATATATATATATATATATATATAT ATATATATATATATAT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TRAF3IP3_chr1_209751053_209787310	209765227	G G	GAGAGAGA others(35): Show GAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0261 a0001c0002t0002g0261	1	444	0.0023	42	c.702 others(59): Show c.702+1642_702+1643insAGAGAGAGAGAGAGGGAGAGAGAGAGAG AGGAAGGAAGGAAG	TRAF3IP3	ENSG00000009790.15	transcript	ENST00000367025.8	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRAPPC8_chr18_31824197_31948128	31943298	T T	TGGGCGGG others(35): Show TGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG03471.hp2 NA18974.hp2 others(2): Show HG01255.hp1 HG03471.hp2 NA18974.hp2 NA19087.hp1 NA20129.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0017 a0002c0004t0001 a0002c0004t0017	a0002c0004t0001g0036 a0002c0004t0001g0040 a0002c0004t0001g0041 others(2): Show a0002c0004t0001g0036 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0017g0029	5	350	0.0143	42	c.-53 others(51): Show c.-535_-534insCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCC CCGCCC	TRAPPC8	ENSG00000153339.15	transcript	ENST00000283351.10	protein_coding		171		chr18	TogoVar
TRAPPC9_chr8_139722725_140462744	139936747	A A	AGGGGAGT others(35): Show AGGGGAGTGGGCACTGCAGTGTGGTATAAAGCATGGAGAGAGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp1 HG02486.hp1 others(7): Show HG01106.hp2 HG02055.hp1 HG02486.hp1 HG02717.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 NA18906.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014 a0001c0019 a0002c0010	a0001c0001t0001 a0001c0001t0029 a0001c0002t0013 others(7): Show a0001c0001t0001 a0001c0001t0029 a0001c0002t0013 a0001c0003t0002 a0001c0003t0005 a0001c0004t0001 a0001c0004t0028 a0001c0014t0001 a0001c0019t0031 a0002c0010t0002	a0001c0001t0001g0058 a0001c0001t0029g0077 a0001c0002t0013g0005 others(7): Show a0001c0001t0001g0058 a0001c0001t0029g0077 a0001c0002t0013g0005 a0001c0003t0002g0020 a0001c0003t0005g0013 a0001c0004t0001g0093 a0001c0004t0028g0098 a0001c0014t0001g0074 a0001c0019t0031g0055 a0002c0010t0002g0002	10	98	0.1020	42	c.281 others(63): Show c.2811-26489_2811-26448dupACTCTCTCCATGCTTTATACCACA CTGCAGTGCCCACTCCCC	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	19/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	139936963	C C	CGAGTGGG others(35): Show CGAGTGGGCACTGCAGTGTGGTATAAAGCATGGAGAGAGTGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00642.hp1 others(11): Show HG00140.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01109.hp1 HG01192.hp1 HG01891.hp2 HG02055.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0024 a0001c0027	a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 a0001c0003t0002 a0001c0004t0001 a0001c0004t0004 a0001c0005t0004 a0001c0024t0016 a0001c0027t0012	a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 others(11): Show a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0009g0072 a0001c0002t0002g0003 a0001c0002t0002g0028 a0001c0002t0002g0049 a0001c0003t0002g0046 a0001c0004t0001g0085 a0001c0004t0004g0087 a0001c0005t0004g0079 a0001c0024t0016g0050 a0001c0027t0012g0012	14	98	0.1429	42	c.281 others(63): Show c.2811-26705_2811-26664dupCCCACTCTCTCCATGCTTTATACC ACACTGCAGTGCCCACTC	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	19/22			chr8	TogoVar

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Search Results (Total: 5093 hits)