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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⚠️ 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
DIP2C_chr10_269201_694668	516807	G G	GGGGGGGG others(12): Show GGGGGGGGACGGGGTAGGGT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	88	0.0114	19	c.86- others(36): Show c.86-30278_86-30277insACCCTACCCCGTCCCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516830	G G	GGGGGGGG others(12): Show GGGGGGGGACGGGGTAGGGT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19007.hp1 NA20300.hp1 NA18962.hp1 NA19007.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0017 a0001c0001 a0001c0003 a0001c0017	a0001c0001t0001 a0001c0003t0002 a0001c0017t0002 a0001c0001t0001 a0001c0003t0002 a0001c0017t0002	a0001c0001t0001g0023 a0001c0003t0002g0032 a0001c0017t0002g0064 a0001c0001t0001g0023 a0001c0003t0002g0032 a0001c0017t0002g0064	3	88	0.0341	19	c.86- others(36): Show c.86-30301_86-30300insACCCTACCCCGTCCCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	524967	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03225.hp1 HG03453.hp1 HG00673.hp2 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0079 a0001c0001t0002g0025 a0001c0001t0001g0013 a0001c0001t0001g0079 a0001c0001t0002g0025	3	88	0.0341	19	c.86- others(36): Show c.86-38438_86-38437insTTTTTTTTTTTTTTTTTTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	565354	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	88	0.0114	19	c.86- others(36): Show c.86-78825_86-78824insTTTTTTTTTTTTTTTTTTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608425	C C	CCCCCCCC others(12): Show CCCCCCCCACACACCCCCAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01081.hp1 HG01258.hp2 others(4): Show HG00621.hp1 HG01081.hp1 HG01258.hp2 HG01515.hp2 HG01975.hp2 HG02602.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0003t0002 a0001c0012t0002	a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0003g0070 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0048 a0001c0001t0003g0070 a0001c0001t0003g0085 a0001c0002t0003g0047 a0001c0003t0002g0037 a0001c0012t0002g0052	7	88	0.0796	19	c.85+ others(36): Show c.85+81068_85+81069insCTGGGGGTGTGTGGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1A_chr1_92837167_92966462	92860646	A A	AAAAAAAA others(12): Show AAAAAAAAAATAGCCAGGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp2 others(82): Show HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01257.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01978.hp1 HG02040.hp1 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02300.hp1 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18962.hp2 NA18970.hp2 NA18979.hp1 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 others(82): Show a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0004g0091 a0001c0001t0004g0188 a0001c0001t0008g0123 a0001c0001t0008g0129 a0001c0001t0009g0120	85	200	0.4250	19	c.190 others(36): Show c.190-9692_190-9691insCACCTGGCTATTTTTTTTT	DIPK1A	ENSG00000154511.12	transcript	ENST00000370310.5	protein_coding	2/4			chr1	TogoVar
DIPK2A_chr3_143966823_143997368	143967802	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG02976.hp1 HG03516.hp2 others(2): Show HG01346.hp2 HG02976.hp1 HG03516.hp2 NA19078.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0006g0021 others(2): Show a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0006g0021 a0001c0002t0002g0047 a0001c0002t0002g0206	5	408	0.0123	19	c.-45 others(30): Show c.-4531_-4530insTTTTTTTTTTTTTTTTTTT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding		4020		chr3	TogoVar
DIPK2B_chrX_45143373_45205876	45155961	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA20300.hp2 HG03486.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0116 a0002c0002t0014g0117 a0002c0002t0014g0116 a0002c0002t0014g0117	2	307	0.0065	19	c.672 others(36): Show c.672+1735_672+1753dupAAAAAAAAAAAAAAAAAAA	DIPK2B	ENSG00000147113.17	transcript	ENST00000398000.7	protein_coding	3/4			chrX	TogoVar
DIS3L2_chr2_231956713_232342192	232177169	T T	TGCCACAT others(12): Show TGCCACATTTTCTTAATCCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	304	0.0033	19	c.112 others(40): Show c.1124+13538_1124+13539insCCACATTTTCTTAATCCAG	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DISP1_chr1_222810039_223010995	222969370	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03017.hp1 HG02040.hp2 HG03017.hp1	a0001 a0023 a0001 a0023	a0001c0005 a0023c0033 a0001c0005 a0023c0033	a0001c0005t0001 a0023c0033t0001 a0001c0005t0001 a0023c0033t0001	a0001c0005t0001g0331 a0023c0033t0001g0036 a0001c0005t0001g0331 a0023c0033t0001g0036	2	348	0.0058	19	c.510 others(38): Show c.510-13693_510-13692insAAAAAAAAAAAAAAAAAAA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11503570	G G	GGAAAAAG others(12): Show GGAAAAAGAGTGTCAGCTCA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0023 a0023	a0023c0029 a0023c0029	a0023c0029t0001 a0023c0029t0001	a0023c0029t0001g0140 a0023c0029t0001g0140	1	358	0.0028	19	c.131 others(36): Show c.1316+674_1316+675insAAAAAGAGTGTCAGCTCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIXDC1_chr11_111932343_112027653	111950438	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	278	0.0036	19	c.60+ others(36): Show c.60+12880_60+12881insATATATATATATATATATT	DIXDC1	ENSG00000150764.14	transcript	ENST00000440460.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
DIXDC1_chr11_111932343_112027653	111950439	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18947.hp1 HG02523.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0239 a0001c0001t0002g0197 a0001c0001t0002g0239	2	278	0.0072	19	c.60+ others(36): Show c.60+12880_60+12881insATATATATATATATATATA	DIXDC1	ENSG00000150764.14	transcript	ENST00000440460.7	protein_coding	1/19			chr11	TogoVar
DKK2_chr4_106916802_107041313	107027756	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	218	0.0046	19	c.222 others(36): Show c.222+7613_222+7614insAAAAAAAAAAAAAAAAAAA	DKK2	ENSG00000155011.9	transcript	ENST00000285311.8	protein_coding	1/3			chr4	TogoVar
DKK4_chr8_42369063_42382229	42379356	T T	TATATATA others(12): Show TATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	19	c.-23 others(30): Show c.-2312_-2311insTATATATATATATATATAT	DKK4	ENSG00000104371.5	transcript	ENST00000220812.3	protein_coding		2128		chr8	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0216 a0005c0005t0005g0216	1	336	0.0030	19	c.51 others(30): Show c.5150_*5151insAAAAAAAAAAAATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0200 a0003c0003t0009g0200	1	336	0.0030	19	c.51 others(30): Show c.5150_*5151insAAAATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13251484	A A	ATTTTATT others(12): Show ATTTTATTCATAATTTTAGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0149 a0003c0003t0006g0149	1	212	0.0047	19	c.134 others(40): Show c.1348+53784_1348+53785insACTAAAATTATGAATAAAA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13297282	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02074.hp2 HG02602.hp2 others(1): Show HG01243.hp2 HG02074.hp2 HG02602.hp2 HG02922.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0001 a0002c0014 a0004c0005 others(1): Show a0001c0001 a0002c0014 a0004c0005 a0013c0025	a0001c0001t0001 a0002c0014t0008 a0004c0005t0002 others(1): Show a0001c0001t0001 a0002c0014t0008 a0004c0005t0002 a0013c0025t0006	a0001c0001t0001g0075 a0002c0014t0008g0078 a0004c0005t0002g0181 others(1): Show a0001c0001t0001g0075 a0002c0014t0008g0078 a0004c0005t0002g0181 a0013c0025t0006g0024	4	212	0.0189	19	c.134 others(38): Show c.1348+7986_1348+7987insTTTTTTTTTTTTTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13390995	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAGGAAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02602.hp2 NA18522.hp1 HG02145.hp1 HG02602.hp2 NA18522.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0013 a0001c0001t0001 a0008c0010t0013	a0001c0001t0001g0006 a0001c0001t0001g0075 a0008c0010t0013g0194 a0001c0001t0001g0006 a0001c0001t0001g0075 a0008c0010t0013g0194	3	212	0.0142	19	c.131 others(38): Show c.1314+2557_1314+2558insCTTTTCCTTTTTTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	4/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13413256	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02486.hp2 HG02559.hp1 HG00642.hp2 HG02486.hp2 HG02559.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0002c0006 a0001c0004 a0002c0002 a0002c0006	a0001c0004t0003 a0002c0002t0001 a0002c0006t0035 a0001c0004t0003 a0002c0002t0001 a0002c0006t0035	a0001c0004t0003g0018 a0002c0002t0001g0074 a0002c0006t0035g0016 a0001c0004t0003g0018 a0002c0002t0001g0074 a0002c0006t0035g0016	3	212	0.0142	19	c.102 others(40): Show c.1024-11656_1024-11638dupAAAAAAAAAAAAAAAAAAA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13451037	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0018 a0001c0004t0003g0018	1	212	0.0047	19	c.102 others(40): Show c.1023+47993_1023+48011dupTTTTTTTTTTTTTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13496785	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02080.hp1 HG03139.hp1 others(1): Show HG00558.hp1 HG02080.hp1 HG03139.hp1 NA18983.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0008 a0004c0005 a0005c0008	a0004c0005t0002 a0005c0008t0009 a0005c0008t0030 a0004c0005t0002 a0005c0008t0009 a0005c0008t0030	a0004c0005t0002g0169 a0004c0005t0002g0170 a0005c0008t0009g0167 others(1): Show a0004c0005t0002g0169 a0004c0005t0002g0170 a0005c0008t0009g0167 a0005c0008t0030g0171	4	212	0.0189	19	c.102 others(38): Show c.1023+2263_1023+2264insAAAAAAAAAAAAAAAAAAA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLEC1_chr3_38034208_38129025	38087466	C C	CAGCACTG others(12): Show CAGCACTGACACCATCCATT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0012 a0012	a0012c0062 a0012c0062	a0012c0062t0002 a0012c0062t0002	a0012c0062t0002g0134 a0012c0062t0002g0134	1	298	0.0034	19	c.157 others(36): Show c.1573-812_1573-811insTAGCACTGACACCATCCAT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	9/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLG1_chr3_197037560_197303612	197038137	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02132.hp2 HG02015.hp2 HG02132.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0174 a0001c0006t0004g0175 a0001c0006t0004g0174 a0001c0006t0004g0175	2	332	0.0060	19	c.64 others(30): Show c.6485_*6486insTTTTTTTTTTTTTTTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding		4422		chr3	TogoVar
DLG1_chr3_197037560_197303612	197041480	A A	ATTATTAT others(12): Show ATTATTATTATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 NA20805.hp2 HG01106.hp1 NA20805.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0017 a0001c0001 a0006c0017	a0001c0001t0001 a0006c0017t0001 a0001c0001t0001 a0006c0017t0001	a0001c0001t0001g0070 a0006c0017t0001g0089 a0001c0001t0001g0070 a0006c0017t0001g0089	2	332	0.0060	19	c.31 others(30): Show c.3142_*3143insAAAAAAAAAATAATAATAA	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding		1079		chr3	TogoVar
DLG1_chr3_197037560_197303612	197070565	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0281 a0001c0001t0004g0281	1	332	0.0030	19	c.200 others(38): Show c.2006-1324_2006-1306dupAAAAAAAAAAAAAAAAAAA	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	18/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197127453	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	332	0.0030	19	c.116 others(38): Show c.1165+3073_1165+3074insATATATATATATATATATA	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197127455	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0123 a0001c0001t0010g0123	1	332	0.0030	19	c.116 others(38): Show c.1165+3071_1165+3072insATATATATATATATATATA	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197148245	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	332	0.0030	19	c.537 others(36): Show c.537+1497_537+1498insTTTTTTTTTTTTTTTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	6/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197158634	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03471.hp2 HG02818.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0267 a0001c0001t0005g0273 a0001c0001t0005g0267 a0001c0001t0005g0273	2	332	0.0060	19	c.484 others(36): Show c.484-8857_484-8839dupTTTTTTTTTTTTTTTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	5/24			chr3	TogoVar
DLG2_chr11_83450173_85632344	83743429	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	14	0.0714	19	c.182 others(40): Show c.1825+43260_1825+43261insAAAAAGAAAAAAAAAAAAA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	18/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	84373249	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 NA18906.hp1 others(1): Show HG02559.hp1 HG02717.hp2 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0003g0003 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0003g0003 a0001c0001t0008g0004	4	14	0.2857	19	c.520 others(40): Show c.520-121959_520-121958insTTTTTTTTTTTTTTTTTTT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	84615818	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0014	1	14	0.0714	19	c.358 others(38): Show c.358-81106_358-81088dupTTTTTTTTTTTTTTTTTTT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	6/27			chr11	TogoVar
DLG4_chr17_7182187_7222627	7205726	A A	ACAGCCCG others(12): Show ACAGCCCGTCCCCCATCCCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02257.hp1 others(14): Show HG01884.hp1 HG02055.hp1 HG02257.hp1 HG02280.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 others(11): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0030 a0001c0001t0082 a0001c0001t0084 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0090 a0001c0001t0092 a0001c0001t0107 a0001c0001t0128 a0001c0001t0129	a0001c0001t0007g0352 a0001c0001t0007g0353 a0001c0001t0008g0357 others(14): Show a0001c0001t0007g0352 a0001c0001t0007g0353 a0001c0001t0008g0357 a0001c0001t0017g0350 a0001c0001t0017g0356 a0001c0001t0030g0308 a0001c0001t0030g0310 a0001c0001t0082g0326 a0001c0001t0084g0305 a0001c0001t0086g0358 a0001c0001t0087g0306 a0001c0001t0088g0294 a0001c0001t0090g0307 a0001c0001t0092g0309 a0001c0001t0107g0351 a0001c0001t0128g0354 a0001c0001t0129g0355	17	376	0.0452	19	c.97- others(34): Show c.97-1493_97-1475dupCGGGATGGGGGACGGGCTG	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding	2/19			chr17	TogoVar
DLGAP1_chr18_3491032_4460307	3977434	G G	GTGTTTTT others(12): Show GTGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03579.hp1 HG03098.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0002 a0001c0001t0003 a0001c0004t0002	a0001c0001t0003g0071 a0001c0004t0002g0031 a0001c0001t0003g0071 a0001c0004t0002g0031	2	80	0.0250	19	c.-73 others(38): Show c.-73+27681_-73+27682insAAAAAAAAAAAAAAAAACA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	3/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4082510	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0022 a0001c0002t0007g0022	1	80	0.0125	19	c.-15 others(40): Show c.-159+68651_-159+68669dupTTTTTTTTTTTTTTTTTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	960237	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	40	0.0250	19	c.73+ others(36): Show c.73+52286_73+52287insTTTTTTTTTTTTTTTTTTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1110012	C C	CTGGGTCT others(12): Show CTGGGTCTGTGAGGTGTGCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp1 HG02818.hp2 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0005 a0002c0006t0021 a0002c0001t0005 a0002c0006t0021	a0002c0001t0005g0035 a0002c0006t0021g0014 a0002c0001t0005g0035 a0002c0006t0021g0014	2	40	0.0500	19	c.74- others(38): Show c.74-148838_74-148820dupTGGGTCTGTGAGGTGTGCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1110203	A A	ATCTGTGA others(12): Show ATCTGTGAGGTGTGCACGGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp1 HG02818.hp2 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0005 a0002c0006t0021 a0002c0001t0005 a0002c0006t0021	a0002c0001t0005g0035 a0002c0006t0021g0014 a0002c0001t0005g0035 a0002c0006t0021g0014	2	40	0.0500	19	c.74- others(38): Show c.74-148633_74-148632insCGGGTCTGTGAGGTGTGCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1155651	A A	ACTCCGAG others(12): Show ACTCCGAGACCCCCAGGCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	19	c.74- others(38): Show c.74-103192_74-103174dupACCCCCAGGCCCCTCCGAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1470777	T T	TCCCCCAG others(12): Show TCCCCCAGGCTTTCCCGACC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01071.hp2 others(17): Show HG00639.hp1 HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01496.hp1 HG01891.hp1 HG02071.hp1 HG02074.hp2 HG02258.hp2 HG02647.hp2 HG02698.hp2 HG02818.hp2 HG02895.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03710.hp1 HG03710.hp2 NA18906.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0001c0011 others(5): Show a0001c0002 a0001c0003 a0001c0011 a0002c0001 a0002c0004 a0002c0006 a0002c0007 a0004c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(17): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 a0001c0003t0024 a0001c0011t0015 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0002c0007t0008 a0004c0008t0016	a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0009g0039 others(17): Show a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0003t0001g0025 a0001c0003t0006g0033 a0001c0003t0013g0007 a0001c0003t0024g0003 a0001c0011t0015g0002 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0003g0022 a0002c0001t0005g0035 a0002c0001t0011g0001 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0002c0007t0008g0040 a0004c0008t0016g0029	20	40	0.5000	19	c.107 others(38): Show c.107-30582_107-30581insGCTTTCCCGACCCCCCCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1471089	C C	CCTTTCCC others(12): Show CCTTTCCCGACCCCTCCAGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	19	c.107 others(38): Show c.107-30259_107-30258insGCTTTCCCGACCCCTCCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1471184	G G	GCTTTCCC others(12): Show GCTTTCCCGACCCCTCCAGC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0034 a0001c0002t0022g0034	1	40	0.0250	19	c.107 others(38): Show c.107-30125_107-30107dupCCTTTCCCGACCCCTCCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1471313	C C	CCAGCCTT others(12): Show CCAGCCTTTCCCGACCCCTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	19	c.107 others(38): Show c.107-30035_107-30034insGCAGCCTTTCCCGACCCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1471343	C C	CGACCCCT others(12): Show CGACCCCTCCAGCTTTTCCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA20300.hp1 HG02895.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0013 a0002c0007t0008 a0001c0003t0013 a0002c0007t0008	a0001c0003t0013g0007 a0002c0007t0008g0040 a0001c0003t0013g0007 a0002c0007t0008g0040	2	40	0.0500	19	c.107 others(38): Show c.107-30005_107-30004insTGACCCCTCCAGCTTTTCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLK1_chr14_100721892_100743224	100740364	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02083.hp1 NA18939.hp1 others(8): Show HG00558.hp2 HG02083.hp1 NA18939.hp1 NA18946.hp1 NA18953.hp1 NA19005.hp1 NA19057.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0018 a0002c0003t0029 others(1): Show a0002c0003t0005 a0002c0003t0018 a0002c0003t0029 a0002c0003t0041	a0002c0003t0005g0006 a0002c0003t0018g0032 a0002c0003t0029g0081 others(1): Show a0002c0003t0005g0006 a0002c0003t0018g0032 a0002c0003t0029g0081 a0002c0003t0041g0006	11	424	0.0259	19	c.54 others(30): Show c.5468_*5469insTTTTTTTTTTTTTTTTTTT	DLK1	ENSG00000185559.16	transcript	ENST00000341267.9	protein_coding		2141		chr14	TogoVar
DLL4_chr15_40924340_40944073	40942060	G G	GCGCGGGA others(12): Show GCGCGGGAGGGGCCGCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0051 a0001c0001t0013g0051	1	370	0.0027	19	c.40 others(30): Show c.4026_*4027insCGCGGGAGGGGCCGCCGAC	DLL4	ENSG00000128917.8	transcript	ENST00000249749.7	protein_coding		2988		chr15	TogoVar
DLX3_chr17_49985005_50000224	49995433	A A	ACACACAC others(12): Show ACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0057 a0001c0001t0037g0057	1	438	0.0023	19	c.-43 others(28): Show c.-436_-435insGTGTGTGTGTGTGTGTGTG	DLX3	ENSG00000064195.7	transcript	ENST00000434704.2	protein_coding		210		chr17	TogoVar
DLX5_chr7_97015396_97029831	97016224	A A	ACACACAC others(12): Show ACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp2 NA19068.hp2 HG02071.hp1 HG02071.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0001 a0001c0001t0002g0017	3	448	0.0067	19	c.45 others(30): Show c.4511_*4512insGTGTGTGTGTGTGTGTGTG	DLX5	ENSG00000105880.7	transcript	ENST00000648378.1	protein_coding		4171		chr7	TogoVar

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Search Results (Total: 10000 hits)