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
DPH7_chr9_137549444_137583925	137566692	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGATGACT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18906.hp1 NA19088.hp2 HG02818.hp2 NA18906.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0054 a0002c0002t0001g0233 a0002c0002t0001g0239 a0001c0001t0001g0054 a0002c0002t0001g0233 a0002c0002t0001g0239	3	340	0.0088	-32	c.641 others(49): Show c.641-1570_641-1539delAGTCATCCAGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566782	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01496.hp2 HG00642.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0203 a0001c0001t0001g0122 a0001c0001t0001g0203	2	340	0.0059	-32	c.641 others(49): Show c.641-1660_641-1629delAGTCACCCCGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566958	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0244	1	340	0.0029	-32	c.641 others(49): Show c.641-1836_641-1805delAGTCACCCAGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567018	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02451.hp1 HG03041.hp2 others(3): Show HG00733.hp1 HG02451.hp1 HG03041.hp2 HG03579.hp1 NA18747.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0061 a0001c0001t0001g0143 a0001c0001t0001g0144 others(3): Show a0001c0001t0001g0061 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0180 a0001c0001t0007g0231	6	340	0.0177	-32	c.641 others(49): Show c.641-1896_641-1865delAGTCACCCCGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567166	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18906.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0159 a0001c0001t0001g0050 a0001c0001t0001g0159	2	340	0.0059	-32	c.641 others(49): Show c.641-2044_641-2013delAGTCACCCCGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567313	CTCTGTCT others(25): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	340	0.0029	-32	c.641 others(49): Show c.641-2191_641-2160delCAGTCACCCAGGGGAGCTTCCTCACAGA CAGA	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567430	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02080.hp1 HG02738.hp1 others(10): Show HG01069.hp2 HG02080.hp1 HG02738.hp1 HG03130.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18975.hp1 NA18981.hp2 NA18999.hp1 NA19010.hp1 NA19065.hp1 NA19080.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0005 a0003c0003 others(1): Show a0001c0001 a0001c0005 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0005t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0070 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0070 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0005t0001g0011 a0003c0003t0001g0025 a0004c0004t0001g0137 a0004c0004t0001g0209	13	340	0.0382	-32	c.641 others(49): Show c.641-2308_641-2277delAGTCACCCAGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567546	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	340	0.0029	-32	c.641 others(49): Show c.641-2424_641-2393delAGTCACCCAGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567784	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0232 a0002c0002t0001g0232	1	340	0.0029	-32	c.641 others(49): Show c.641-2662_641-2631delAGTCACCCAGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567814	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	340	0.0029	-32	c.641 others(49): Show c.641-2692_641-2661delAGTCACCCAGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567844	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02148.hp1 HG02165.hp2 others(6): Show HG02040.hp1 HG02148.hp1 HG02165.hp2 HG03492.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp2 NA18973.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0040 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0040 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0223	9	340	0.0265	-32	c.641 others(49): Show c.641-2722_641-2691delAGTCACCCCGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567874	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp1 HG02257.hp1 others(1): Show HG00642.hp2 HG01192.hp1 HG02257.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(1): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0228	4	340	0.0118	-32	c.641 others(49): Show c.641-2752_641-2721delAGTCACCCCGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567904	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0253 a0001c0001t0009g0253	1	340	0.0029	-32	c.641 others(49): Show c.641-2782_641-2751delAGTCACCCCGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567934	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18981.hp2 HG02145.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0012 a0001c0001t0001g0030	2	340	0.0059	-32	c.641 others(49): Show c.641-2812_641-2781delAGTCACCCCGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137568082	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	340	0.0029	-32	c.641 others(49): Show c.641-2960_641-2929delAGTCACCCAGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137568112	ACTCTGTC others(25): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02109.hp2 HG00609.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0187 a0001c0001t0001g0155 a0001c0001t0001g0187	2	340	0.0059	-32	c.641 others(49): Show c.641-2990_641-2959delAGTCACCCCGGGGAGCTTCCTCACAGAC AGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPP8_chr15_65437467_65522689	65448865	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG02896.hp1 others(1): Show HG02615.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0111 a0001c0001t0007g0160 a0001c0001t0007g0161 others(1): Show a0001c0001t0007g0111 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0007g0162	4	336	0.0119	-32	c.252 others(51): Show c.2527-1891_2527-1860delATATATATATATATATATATATATAT ATATAT	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	19/19			chr15	TogoVar
DPP9_chr19_4670227_4728842	4671940	AATATATA others(25): Show AATATATATATTCATATATTCACATATGTGAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	314	0.0032	-32	c.45 others(43): Show c.4592_*4623delATTCACATATGTGAATATATGAATATATATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3286		chr19	TogoVar
DPP9_chr19_4670227_4728842	4672026	TGTGAATA others(25): Show TGTGAATATATATTCATATATTCACATATGTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0010 a0001c0018t0010	a0001c0018t0010g0233 a0001c0018t0010g0233	1	314	0.0032	-32	c.45 others(43): Show c.4506_*4537delTCACATATGTGAATATATGAATATATATTCAC	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3200		chr19	TogoVar
DPPA4_chr3_109321144_109342546	109330300	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0137 a0002c0003t0002g0137	1	416	0.0024	-32	c.679 others(47): Show c.679+192_679+223delCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	DPPA4	ENSG00000121570.13	transcript	ENST00000335658.7	protein_coding	5/6			chr3	TogoVar
DPYD_chr1_97072743_97926034	97242122	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	52	0.0192	-32	c.230 others(51): Show c.2300-7160_2300-7129delTATATATATATATATATATATATATA TATACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	18/22			chr1	TogoVar
DPYSL4_chr10_132181948_132210759	132205955	GCAGCCAA others(25): Show GCAGCCAACATCCAGGGCGGGACAGAGGCCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02129.hp2 HG02135.hp1 others(3): Show HG02055.hp2 HG02129.hp2 HG02135.hp1 HG02723.hp2 HG03195.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0015 a0001c0001t0001 a0001c0012t0015	a0001c0001t0001g0004 a0001c0001t0001g0137 a0001c0001t0001g0176 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0137 a0001c0001t0001g0176 a0001c0012t0015g0068 a0001c0012t0015g0184	6	418	0.0144	-32	c.10 others(43): Show c.1026_*1057delCAGCCAACATCCAGGGCGGGACAGAGGCCCCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		197		chr10	TogoVar
DPYSL5_chr2_26843132_26955351	26932180	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01928.hp2 HG01981.hp2 others(1): Show HG01106.hp1 HG01928.hp2 HG01981.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0036 a0001c0001t0041 a0001c0001t0007 a0001c0001t0036 a0001c0001t0041	a0001c0001t0007g0109 a0001c0001t0007g0110 a0001c0001t0036g0102 others(1): Show a0001c0001t0007g0109 a0001c0001t0007g0110 a0001c0001t0036g0102 a0001c0001t0041g0111	4	232	0.0172	-32	c.714 others(47): Show c.714+499_714+530delGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG AA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC7_chr16_57689806_57736805	57706780	TCATCCTC others(25): Show TCATCCTCCCATCCATCCATCCTCCCATCCACC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19004.hp1 NA18983.hp2 NA19004.hp1	a0003 a0023 a0003 a0023	a0003c0035 a0023c0033 a0003c0035 a0023c0033	a0003c0035t0001 a0023c0033t0001 a0003c0035t0001 a0023c0033t0001	a0003c0035t0001g0237 a0023c0033t0001g0235 a0003c0035t0001g0237 a0023c0033t0001g0235	2	388	0.0052	-32	c.859 others(47): Show c.859-622_859-591delATCCACCCATCCTCCCATCCATCCATCCTC CC	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRC7_chr16_57689806_57736805	57735381	TAATGCGG others(25): Show TAATGCGGACGCTGATTGGTCAATCCAGGACGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0228 a0003c0003t0001g0228	1	388	0.0026	-32	c.41 others(43): Show c.4124_*4155delAATGCGGACGCTGATTGGTCAATCCAGGACGG	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding		3577		chr16	TogoVar
DSCAML1_chr11_117422772_117802216	117477360	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02717.hp1 others(1): Show HG01109.hp1 HG02486.hp1 HG02717.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0001c0028 a0002c0010 a0001c0008 a0001c0028 a0002c0010	a0001c0008t0001 a0001c0008t0004 a0001c0028t0004 others(1): Show a0001c0008t0001 a0001c0008t0004 a0001c0028t0004 a0002c0010t0002	a0001c0008t0001g0118 a0001c0008t0004g0100 a0001c0028t0004g0006 others(1): Show a0001c0008t0001g0118 a0001c0008t0004g0100 a0001c0028t0004g0006 a0002c0010t0002g0048	4	194	0.0206	-32	c.278 others(51): Show c.2785+3051_2785+3082delTACACACACACACACACACACACACA CACACA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	14/32			chr11	TogoVar
DSG3_chr18_31442741_31483702	31457573	CTTTCTTT others(25): Show CTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18967.hp2 NA19085.hp2 HG02280.hp2 NA18967.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0227 a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0002g0227 a0001c0001t0004g0050 a0001c0001t0004g0052	3	346	0.0087	-32	c.216 others(47): Show c.216+452_216+483delTCTTTCTTTCTTCTTTCTTTCTTTCTTTCT TT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DSG3_chr18_31442741_31483702	31457581	CTTTCTTC others(25): Show CTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	346	0.0029	-32	c.216 others(47): Show c.216+460_216+491delTCTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	DSG3	ENSG00000134757.5	transcript	ENST00000257189.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr18	TogoVar
DUS3L_chr19_5780140_5796163	5796131	CTTCTTCT others(25): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0017 a0001c0004t0001g0017	1	364	0.0028	-32	c.-50 others(43): Show c.-5022_-4991delAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4969		chr19	TogoVar
DUSP10_chr1_221696424_221747089	221700096	AAGGGAAG others(25): Show AAGGGAAGGGAAGGGAGAGGGAATGGAAGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0017	1	396	0.0025	-32	c.22 others(43): Show c.2284_*2315delCTCCCTTCCATTCCCTCTCCCTTCCCTTCCCT	DUSP10	ENSG00000143507.18	transcript	ENST00000366899.4	protein_coding		1327		chr1	TogoVar
DUSP14_chr17_37484891_37518498	37509243	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	421	0.0024	-32	c.-18 others(51): Show c.-180-1411_-180-1380delTATATATATATATATATATATATATA TATATA	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP15_chr20_31856077_31875527	31873809	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	378	0.0027	-32	c.-35 others(43): Show c.-3504_-3473delTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTT	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding		3283		chr20	TogoVar
DUSP15_chr20_31856077_31875527	31873821	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	378	0.0027	-32	c.-35 others(43): Show c.-3516_-3485delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding		3295		chr20	TogoVar
DUSP29_chr10_75032472_75078642	75070070	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18970.hp1 HG00423.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0049	2	368	0.0054	-32	c.-35 others(49): Show c.-35+3467_-35+3498delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding	1/3			chr10	TogoVar
DUSP7_chr3_52043919_52061571	52045855	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01358.hp1 HG01943.hp1 others(26): Show HG00423.hp1 HG01358.hp1 HG01943.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02273.hp1 HG02572.hp2 HG03041.hp1 HG03471.hp1 HG06807.hp1 NA18612.hp2 NA18944.hp1 NA18949.hp1 NA18952.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18981.hp2 NA18994.hp2 NA19005.hp2 NA19060.hp1 NA19070.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0025	a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0002g0002 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0002g0002 a0001c0001t0002g0030 a0001c0001t0003g0003 a0001c0001t0003g0035 a0001c0001t0006g0011 a0001c0001t0007g0014 a0001c0001t0009g0015 a0001c0001t0025g0062	29	384	0.0755	-32	c.49 others(43): Show c.4928_*4959delCACACACACACACACACACACACACACACACA	DUSP7	ENSG00000164086.10	transcript	ENST00000495880.2	protein_coding		3063		chr3	TogoVar
DUXA_chr19_57149021_57172485	57172090	GGGCGCGC others(25): Show GGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	446	0.0022	-32	c.-46 others(43): Show c.-4679_-4648delGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4606		chr19	TogoVar
DYM_chr18_49031387_49465645	49289727	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 HG02922.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0258 a0001c0001t0005g0259	2	290	0.0069	-32	c.764 others(49): Show c.764-3143_764-3112delTATATATATATATATATATATATATATA TATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49393091	GGGAAGGA others(25): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp1 HG01891.hp1 others(10): Show HG00735.hp2 HG01257.hp1 HG01891.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02647.hp2 HG02717.hp2 HG02897.hp2 HG02965.hp1 HG03516.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0020 a0001c0001t0038 a0001c0001t0040 a0001c0002t0001	a0001c0001t0001g0233 a0001c0001t0002g0205 a0001c0001t0007g0002 others(10): Show a0001c0001t0001g0233 a0001c0001t0002g0205 a0001c0001t0007g0002 a0001c0001t0020g0239 a0001c0001t0038g0109 a0001c0001t0040g0230 a0001c0002t0001g0209 a0001c0002t0001g0224 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247	13	290	0.0448	-32	c.141 others(49): Show c.141-1478_141-1447delTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	2/17			chr18	TogoVar
DYNAP_chr18_54586245_54604493	54600077	GATTGAGA others(25): Show GATTGAGATATATATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG03579.hp1 HG00738.hp2 HG03579.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0018 a0002c0005t0005g0018	2	358	0.0056	-32	c.19 others(43): Show c.1933_*1964delATTGAGATATATATATATATATATATATATAT	DYNAP	ENSG00000178690.4	transcript	ENST00000648945.2	protein_coding		585		chr18	TogoVar
DYNAP_chr18_54586245_54604493	54600081	GAGATATA others(25): Show GAGATATATATATATATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02965.hp2 HG03139.hp2 others(3): Show HG02055.hp2 HG02965.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0008 a0001c0001t0002g0028 a0001c0001t0011g0008 a0001c0001t0002g0008 a0001c0001t0002g0028 a0001c0001t0011g0008	6	358	0.0168	-32	c.19 others(43): Show c.1937_*1968delAGATATATATATATATATATATATATATATAT	DYNAP	ENSG00000178690.4	transcript	ENST00000648945.2	protein_coding		589		chr18	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537942	ATATATAA others(25): Show ATATATAATTTATATATATAATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	336	0.0030	-32	c.739 others(47): Show c.739-870_739-839delAATATATATATATTATATATATAAATTATA TA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37457011	AATTTACT others(25): Show AATTTACTTACTTACTTACTTACTTACTTATTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG02965.hp1 others(1): Show HG02630.hp2 HG02922.hp1 HG02965.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0155 a0001c0001t0023 a0001c0001t0155	a0001c0001t0023g0013 a0001c0001t0023g0015 a0001c0001t0023g0016 others(1): Show a0001c0001t0023g0013 a0001c0001t0023g0015 a0001c0001t0023g0016 a0001c0001t0155g0014	4	350	0.0114	-32	c.11- others(49): Show c.11-15667_11-15636delCTTACTTACTTACTTACTTACTTATTTA TTTA	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37457017	CTTACTTA others(25): Show CTTACTTACTTACTTACTTACTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG02976.hp1 others(1): Show HG02280.hp2 HG02647.hp1 HG02976.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0169 a0001c0001t0170 a0001c0001t0045 a0001c0001t0169 a0001c0001t0170	a0001c0001t0045g0318 a0001c0001t0045g0320 a0001c0001t0169g0319 others(1): Show a0001c0001t0045g0318 a0001c0001t0045g0320 a0001c0001t0169g0319 a0001c0001t0170g0321	4	350	0.0114	-32	c.11- others(49): Show c.11-15663_11-15632delCTTACTTACTTACTTACTTATTTATTTA TTTA	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DZIP1_chr13_95573202_95649706	95636946	TCAGTCAT others(25): Show TCAGTCATGCAGGCAGAAAAAGCAAGTCACTCA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0293 a0002c0002t0019g0293	1	382	0.0026	-32	c.598 others(49): Show c.598-3657_598-3626delTGAGTGACTTGCTTTTTCTGCCTGCATG ACTG	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	5/22			chr13	TogoVar
E2F2_chr1_23501438_23536233	23514928	CACAACTC others(25): Show CACAACTCTTTAAAAATGTAAAACCATTCTTAG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0235 a0002c0002t0001g0235	1	396	0.0025	-32	c.104 others(51): Show c.1045+1375_1045+1406delCTAAGAATGGTTTTACATTTTTAAAG AGTTGT	E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding	6/6			chr1	TogoVar
E2F7_chr12_77016251_77070569	77033756	AGTCAGTT others(25): Show AGTCAGTTTGTTTTAAAACGCCAGCACGTGGGT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	394	0.0025	-32	c.130 others(48): Show c.1309+69_1309+100delACCCACGTGCTGGCGTTTTAAAACAAACT GAC	E2F7	ENSG00000165891.16	transcript	ENST00000322886.12	protein_coding	8/12			chr12	TogoVar
EBF1_chr5_158690920_159104916	158866833	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(36): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00544.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01106.hp1 HG01168.hp2 HG01433.hp1 HG01884.hp1 HG01934.hp2 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp2 HG02922.hp2 HG02965.hp2 HG03225.hp1 HG03239.hp1 HG03710.hp1 HG04184.hp2 NA18942.hp1 NA18944.hp2 NA18949.hp1 NA18963.hp1 NA18969.hp2 NA19009.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0069 a0001c0001t0070 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0034 a0001c0002t0036 a0001c0002t0038 a0001c0002t0064	a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0142 others(36): Show a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0002g0100 a0001c0001t0002g0150 a0001c0001t0006g0019 a0001c0001t0007g0066 a0001c0001t0021g0160 a0001c0001t0022g0099 a0001c0001t0022g0124 a0001c0001t0027g0104 a0001c0001t0069g0071 a0001c0001t0070g0075 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0131 a0001c0002t0001g0138 a0001c0002t0001g0145 a0001c0002t0001g0170 a0001c0002t0003g0108 a0001c0002t0003g0126 a0001c0002t0005g0128 a0001c0002t0005g0143 a0001c0002t0005g0165 a0001c0002t0006g0015 a0001c0002t0006g0017 a0001c0002t0006g0022 a0001c0002t0006g0025 a0001c0002t0007g0076 a0001c0002t0009g0079 a0001c0002t0012g0023 a0001c0002t0013g0001 a0001c0002t0013g0002 a0001c0002t0014g0009 a0001c0002t0014g0010 a0001c0002t0034g0008 a0001c0002t0036g0012 a0001c0002t0038g0014 a0001c0002t0064g0056	39	196	0.1990	-32	c.555 others(51): Show c.555-26755_555-26724delTATATATATATATATATATATATATA TATATA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	25838188	GCTCTCTC others(25): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	220	0.0046	-32	c.63 others(43): Show c.6389_*6420delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding		3536		chr8	TogoVar
EBF3_chr10_129830233_129969274	129956507	GGTGTTTT others(25): Show GGTGTTTTTGTTGCTTCAACTAAAGCTATGCCA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	338	0.0030	-32	c.554 others(47): Show c.554+719_554+750delTGGCATAGCTTTAGTTGAAGCAACAAAAAC AC	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
ECE2_chr3_184271022_184298031	184274718	TGAAAGAA others(25): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG02258.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0113 a0001c0001t0003g0004 a0001c0001t0003g0113	2	398	0.0050	-32	c.-14 others(43): Show c.-1435_-1404delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding		1303		chr3	TogoVar

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Search Results (Total: 5012 hits)