Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DLGAP1_chr18_3491032_4460307	3551722	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0062 a0001c0004t0015g0062	1	80	0.0125	20	c.205 others(41): Show c.2057+15767_2057+15768insAAGGAAGGAAGGGAGGGAGG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	9/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3567070	A A	ATTCATCA others(13): Show ATTCATCATTCATTCATTCAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0045 a0001c0001t0008g0045	1	80	0.0125	20	c.205 others(37): Show c.2057+419_2057+420insATGAATGAATGAATGATGAA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	9/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3583184	A A	ACCTTCCT others(13): Show ACCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0056 a0001c0001t0039g0056	1	80	0.0125	20	c.159 others(37): Show c.1592-956_1592-937dupAAGGAAGGAAGGAAGGAAGG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3583195	T T	TTCCTTCC others(13): Show TTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0038 a0001c0005t0005g0038	1	80	0.0125	20	c.159 others(37): Show c.1592-967_1592-948dupGGGAAGGAAGGAAGGAAGGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3639359	G G	GAGAAAAG others(13): Show GAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02965.hp2 HG03098.hp2 others(2): Show HG02717.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0008 a0001c0001t0022 a0001c0002t0024 others(2): Show a0001c0001t0008 a0001c0001t0022 a0001c0002t0024 a0001c0002t0034 a0001c0003t0035	a0001c0001t0008g0045 a0001c0001t0022g0043 a0001c0002t0024g0034 others(2): Show a0001c0001t0008g0045 a0001c0001t0022g0043 a0001c0002t0024g0034 a0001c0002t0034g0069 a0001c0003t0035g0074	5	80	0.0625	20	c.159 others(41): Show c.1592-57131_1592-57112dupTTTCTTTTCTTTTCTTTTCT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3742949	T T	TCTATCTT others(13): Show TCTATCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 HG02257.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0068 a0001c0001t0022g0043 a0001c0001t0003g0068 a0001c0001t0022g0043	2	80	0.0250	20	c.117 others(37): Show c.1173-438_1173-437insGAAGGAAGGAAGGAAGATAG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	5/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3742949	T T	TCTTCCTT others(13): Show TCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA21309.hp1 HG02451.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0039 a0001c0002t0008 a0001c0001t0039 a0001c0002t0008	a0001c0001t0039g0056 a0001c0002t0008g0037 a0001c0001t0039g0056 a0001c0002t0008g0037	2	80	0.0250	20	c.117 others(37): Show c.1173-457_1173-438dupGAAGGAAGGAAGGAAGGAAG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	5/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3833130	A A	ATTCCTTC others(13): Show ATTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0015 a0001c0003t0023g0015	1	80	0.0125	20	c.958 others(39): Show c.958-18877_958-18858dupGGAAGGAAGGAAGGAAGGAA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	4/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3848127	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0046 a0001c0001t0018g0046	1	80	0.0125	20	c.957 others(39): Show c.957+30965_957+30984dupTTTTTTTTTTTTTTTTTTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	4/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3888115	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0074 a0001c0003t0035g0074	1	80	0.0125	20	c.-72 others(37): Show c.-72-7976_-72-7975insGTTTTTTTTTTTTTTTTTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	3/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3977434	G G	GTGTTTTT others(13): Show GTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	80	0.0125	20	c.-73 others(39): Show c.-73+27681_-73+27682insAAAAAAAAAAAAAAAAAACA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	3/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4082510	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	80	0.0125	20	c.-15 others(41): Show c.-159+68650_-159+68669dupTTTTTTTTTTTTTTTTTTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4348400	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0009 a0001c0003t0002g0009	1	80	0.0125	20	c.-26 others(43): Show c.-267+106586_-267+106605dupCACACACACACACACACACA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4430502	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0028 a0001c0001t0007g0028	1	80	0.0125	20	c.-26 others(41): Show c.-267+24484_-267+24503dupCACACACACACACACACACA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	747743	T T	TCTGCGGT others(13): Show TCTGCGGTGGGATGGGCGGGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01361.hp1 others(22): Show HG00639.hp1 HG00639.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp2 HG02074.hp1 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03710.hp2 NA18906.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0001c0010 others(4): Show a0001c0002 a0001c0003 a0001c0010 a0002c0001 a0002c0004 a0003c0005 a0004c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(21): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0023 a0001c0002t0027 a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 a0001c0003t0014 a0001c0003t0017 a0001c0010t0025 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0019 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018 a0003c0005t0002 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0002g0021 others(22): Show a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0002t0023g0005 a0001c0002t0027g0023 a0001c0003t0001g0026 a0001c0003t0006g0033 a0001c0003t0013g0007 a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0010t0025g0012 a0002c0001t0001g0018 a0002c0001t0002g0032 a0002c0001t0003g0017 a0002c0001t0005g0028 a0002c0001t0007g0038 a0002c0001t0019g0030 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010 a0003c0005t0002g0031 a0004c0008t0016g0029	25	40	0.6250	20	c.18+ others(35): Show c.18+9933_18+9934insCGGGCCTGCGGTGGGATGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	747823	C C	CCTGCGGT others(13): Show CCTGCGGTGGGATGGGGGGCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	20	c.18+ others(37): Show c.18+10002_18+10021dupCGGTGGGATGGGGGGCTCTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	747923	T T	TCTGCGGT others(13): Show TCTGCGGTGGGATGGGCGGGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0035 a0002c0001t0005g0035	1	40	0.0250	20	c.18+ others(37): Show c.18+10114_18+10133dupCGGGCCTGCGGTGGGATGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	748022	G G	GTCTGCGG others(13): Show GTCTGCGGTGGGATGGGGGGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	20	c.18+ others(37): Show c.18+10213_18+10214insGGGCTCTGCGGTGGGATGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	748051	G G	GGGATGGG others(13): Show GGGATGGGCGGGTCTGCGGTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	20	c.18+ others(37): Show c.18+10245_18+10246insAGGATGGGCGGGTCTGCGGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	748063	T T	TCTGCGGT others(13): Show TCTGCGGTGGGATGGGCGGGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	40	0.0250	20	c.18+ others(37): Show c.18+10253_18+10254insCGGGCCTGCGGTGGGATGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	748080	G G	GGCTCTGC others(13): Show GGCTCTGCGGTGGGATGGGGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0010 a0002c0004t0018g0010	1	40	0.0250	20	c.18+ others(37): Show c.18+10273_18+10274insGAGCTCTGCGGTGGGATGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	748142	G G	GCCTGCGG others(13): Show GCCTGCGGTGGGATGGGGGGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0035 a0002c0001t0005g0035	1	40	0.0250	20	c.18+ others(37): Show c.18+10317_18+10318insCCTGCGGTGGGATGGGGGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	748142	G G	GTCTGCGG others(13): Show GTCTGCGGTGGGATGGGGAGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp2 HG01496.hp2 others(4): Show HG00639.hp1 HG01071.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02647.hp2 HG03710.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0005	a0001c0002t0001 a0001c0003t0014 a0001c0003t0024 others(4): Show a0001c0002t0001 a0001c0003t0014 a0001c0003t0024 a0002c0001t0002 a0002c0001t0003 a0002c0001t0011 a0003c0005t0004	a0001c0002t0001g0019 a0001c0003t0014g0020 a0001c0003t0024g0003 others(4): Show a0001c0002t0001g0019 a0001c0003t0014g0020 a0001c0003t0024g0003 a0002c0001t0002g0013 a0002c0001t0003g0022 a0002c0001t0011g0001 a0003c0005t0004g0037	7	40	0.1750	20	c.18+ others(37): Show c.18+10333_18+10334insGAGCTCTGCGGTGGGATGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	748177	G G	GGGGGCTC others(13): Show GGGGGCTCTGCGGTGGGATGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	20	c.18+ others(37): Show c.18+10353_18+10354insGGGCTCTGCGGTGGGATGAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	854597	G G	GCATGCAT others(13): Show GCATGCATGTGTGTGCATGTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03516.hp1 HG02895.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0001 a0001c0011t0015 a0001c0003t0001 a0001c0011t0015	a0001c0003t0001g0027 a0001c0011t0015g0002 a0001c0003t0001g0027 a0001c0011t0015g0002	2	40	0.0500	20	c.19- others(37): Show c.19-53305_19-53286dupGTGTGCATGTTCATGCATGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	960237	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02074.hp2 HG02647.hp1 others(1): Show HG01361.hp1 HG02074.hp2 HG02647.hp1 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0009 a0001c0002t0027 a0001c0003t0017 others(1): Show a0001c0002t0009 a0001c0002t0027 a0001c0003t0017 a0002c0001t0001	a0001c0002t0009g0039 a0001c0002t0027g0023 a0001c0003t0017g0004 others(1): Show a0001c0002t0009g0039 a0001c0002t0027g0023 a0001c0003t0017g0004 a0002c0001t0001g0018	4	40	0.1000	20	c.73+ others(37): Show c.73+52286_73+52287insTTTTTTTTTTTTTTTTTTTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1048592	A A	AATACTTG others(13): Show AATACTTGGTGTGTTTCCTTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	40	0.0250	20	c.73+ others(39): Show c.73+140627_73+140646dupATACTTGGTGTGTTTCCTTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1227153	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	20	c.74- others(37): Show c.74-31696_74-31677dupTATATATATATATATATATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1429997	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA20300.hp2 HG00639.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0019 a0001c0002t0006g0011 a0001c0002t0001g0019 a0001c0002t0006g0011	2	40	0.0500	20	c.107 others(39): Show c.107-71360_107-71359insTATATATATATATATATATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1430011	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02976.hp2 HG03486.hp2 others(1): Show HG00639.hp2 HG02976.hp2 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0010 a0001c0002 a0001c0009 a0001c0010	a0001c0002t0001 a0001c0002t0022 a0001c0009t0012 others(1): Show a0001c0002t0001 a0001c0002t0022 a0001c0009t0012 a0001c0010t0025	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0009t0012g0006 others(1): Show a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0009t0012g0006 a0001c0010t0025g0012	4	40	0.1000	20	c.107 others(39): Show c.107-71338_107-71337insTACATATATATATATATATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1470777	T T	TCCCCCAG others(13): Show TCCCCCAGGCTTTCCCGACCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0017	1	40	0.0250	20	c.107 others(39): Show c.107-30582_107-30581insGCTTTCCCGACCCCCCCCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1508502	A A	ACCACCCC others(13): Show ACCACCCCCCGCAAACCCCCG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02922.hp2 others(1): Show HG01891.hp1 HG02258.hp1 HG02922.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0024 a0002c0001t0002 a0002c0001t0005 others(1): Show a0001c0003t0024 a0002c0001t0002 a0002c0001t0005 a0002c0001t0019	a0001c0003t0024g0003 a0002c0001t0002g0032 a0002c0001t0005g0028 others(1): Show a0001c0003t0024g0003 a0002c0001t0002g0032 a0002c0001t0005g0028 a0002c0001t0019g0030	4	40	0.1000	20	c.172 others(37): Show c.172+7079_172+7080insCGCAAACCCCCGCCACCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1508521	C C	CGCCACCC others(13): Show CGCCACCCCCCGCAAACCCCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	40	0.0250	20	c.172 others(37): Show c.172+7096_172+7097insCCCCGCAAACCCCTGCCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1683960	A A	ATGTGTAT others(13): Show ATGTGTATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	20	c.270 others(39): Show c.2704+5332_2704+5333insGTGTATATATATATGTGTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP3_chr1_34860436_34934650	34862184	A A	ACACGCAG others(13): Show ACACGCAGCACAGAGGAGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0013	1	266	0.0038	20	c.38 others(31): Show c.3898_*3899insATCCTCCTCTGTGCTGCGTG	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding		3251		chr1	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18941.hp1 HG02273.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0146 a0001c0001t0001g0105 a0001c0001t0001g0146	2	266	0.0075	20	c.-51 others(35): Show c.-51-583_-51-582insTATATATATATATATATATA	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19030.hp2 HG02886.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0222 a0001c0001t0001g0172 a0001c0001t0001g0222	2	266	0.0075	20	c.-51 others(35): Show c.-51-583_-51-582insTATATATATATATATATAAA	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar
DLGAP4_chr20_36301339_36533633	36466926	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03491.hp2 HG03492.hp2 HG01192.hp2 HG03491.hp2 HG03492.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0006 a0003c0004t0002 a0003c0004t0006	a0003c0004t0002g0099 a0003c0004t0002g0100 a0003c0004t0006g0021 a0003c0004t0002g0099 a0003c0004t0002g0100 a0003c0004t0006g0021	3	144	0.0208	20	c.164 others(41): Show c.1648+20018_1648+20037dupTCTCTCTCTCTGTCTCTCTC	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP5_chr14_55143135_55196585	55190289	T T	TATACACA others(13): Show TATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0029 a0002c0004t0001g0029	1	362	0.0028	20	c.-1- others(35): Show c.-1-1110_-1-1109insGTGTGTGTGTGTGTGTGTAT	DLGAP5	ENSG00000126787.13	transcript	ENST00000247191.7	protein_coding	1/18			chr14	TogoVar
DLK1_chr14_100721892_100743224	100740364	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02074.hp2 NA18962.hp1 others(3): Show HG02040.hp1 HG02074.hp2 NA18962.hp1 NA18976.hp2 NA19003.hp1 NA19090.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0018 a0002c0003t0005 a0002c0003t0018	a0002c0003t0005g0006 a0002c0003t0005g0075 a0002c0003t0018g0032 a0002c0003t0005g0006 a0002c0003t0005g0075 a0002c0003t0018g0032	6	424	0.0142	20	c.54 others(31): Show c.5468_*5469insTTTTTTTTTTTTTTTTTTTT	DLK1	ENSG00000185559.16	transcript	ENST00000341267.9	protein_coding		2141		chr14	TogoVar
DLST_chr14_74876916_74908743	74878668	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0035 a0001c0003t0003g0035	1	392	0.0026	20	c.-32 others(31): Show c.-3286_-3285insGTGTGTGTGTGTGTGTGTGT	DLST	ENSG00000119689.15	transcript	ENST00000334220.9	protein_coding		3247		chr14	TogoVar
DLX3_chr17_49985005_50000224	49995433	A A	AACACACA others(13): Show AACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02602.hp1 HG03041.hp2 others(2): Show HG00140.hp2 HG02602.hp1 HG03041.hp2 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0020 a0001c0001t0001 a0001c0002t0002 a0001c0003t0020	a0001c0001t0001g0001 a0001c0001t0001g0063 a0001c0002t0002g0002 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0063 a0001c0002t0002g0002 a0001c0003t0020g0080	5	438	0.0114	20	c.-43 others(29): Show c.-436_-435insGTGTGTGTGTGTGTGTGTGT	DLX3	ENSG00000064195.7	transcript	ENST00000434704.2	protein_coding		210		chr17	TogoVar
DLX3_chr17_49985005_50000224	49995462	A A	ACACACAC others(13): Show ACACACACACACACACACACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0008 a0001c0002t0008g0008	1	438	0.0023	20	c.-46 others(29): Show c.-465_-464insGGTGTGTGTGTGTGTGTGTG	DLX3	ENSG00000064195.7	transcript	ENST00000434704.2	protein_coding		239		chr17	TogoVar
DLX5_chr7_97015396_97029831	97016224	A A	AACACACA others(13): Show AACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01099.hp2 HG01261.hp2 others(15): Show HG01070.hp2 HG01099.hp2 HG01261.hp2 HG01993.hp1 HG02145.hp2 HG02273.hp1 HG02293.hp1 HG02717.hp1 HG03471.hp1 HG03669.hp1 HG04184.hp2 NA18941.hp1 NA18942.hp1 NA18998.hp2 NA19005.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0002g0001 a0001c0001t0002g0011	18	448	0.0402	20	c.45 others(31): Show c.4511_*4512insGTGTGTGTGTGTGTGTGTGT	DLX5	ENSG00000105880.7	transcript	ENST00000648378.1	protein_coding		4171		chr7	TogoVar
DMAC2_chr19_41426318_41444912	41432653	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0049 a0003c0003t0007g0049	1	426	0.0024	20	c.597 others(35): Show c.597-265_597-246dupACACACACACACACACACAC	DMAC2	ENSG00000105341.19	transcript	ENST00000221943.14	protein_coding	5/5			chr19	TogoVar
DMBT1_chr10_122555754_122648736	122638311	T T	TCGTTCAT others(13): Show TCGTTCATACCCATTCACACC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp1 HG01168.hp1 others(8): Show HG00280.hp2 HG01071.hp1 HG01168.hp1 HG01928.hp1 HG01934.hp1 HG02451.hp2 HG03017.hp1 HG03516.hp1 HG04184.hp2 HG04199.hp2 NA19030.hp2	a0001 a0015 a0026 others(4): Show a0001 a0015 a0026 a0044 a0055 a0088 a0091	a0001c0004 a0015c0014 a0026c0041 others(4): Show a0001c0004 a0015c0014 a0026c0041 a0044c0118 a0055c0117 a0088c0049 a0091c0045	a0001c0004t0001 a0015c0014t0001 a0026c0041t0001 others(4): Show a0001c0004t0001 a0015c0014t0001 a0026c0041t0001 a0044c0118t0001 a0055c0117t0001 a0088c0049t0001 a0091c0045t0001	a0001c0004t0001g0118 a0001c0004t0001g0220 a0001c0004t0001g0230 others(8): Show a0001c0004t0001g0118 a0001c0004t0001g0220 a0001c0004t0001g0230 a0015c0014t0001g0087 a0015c0014t0001g0089 a0015c0014t0001g0112 a0026c0041t0001g0042 a0044c0118t0001g0016 a0055c0117t0001g0055 a0088c0049t0001g0136 a0091c0045t0001g0114	11	282	0.0390	20	c.694 others(39): Show c.6942+1005_6942+1006insTACCCATTCACACCCGTTCA	DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	54/55		INFO_REALIGN_3_PRIME	chr10	TogoVar
DMBT1_chr10_122555754_122648736	122638332	C C	CGTTCACA others(13): Show CGTTCACACCCATTCACACCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01981.hp2 HG02622.hp1 others(9): Show HG00741.hp2 HG01981.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp2 HG02976.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA18992.hp1	a0004 a0011 a0017 others(7): Show a0004 a0011 a0017 a0020 a0028 a0063 a0066 a0073 a0079 a0090	a0004c0003 a0011c0038 a0017c0040 others(7): Show a0004c0003 a0011c0038 a0017c0040 a0020c0025 a0028c0036 a0063c0080 a0066c0053 a0073c0054 a0079c0055 a0090c0046	a0004c0003t0001 a0011c0038t0001 a0017c0040t0009 others(7): Show a0004c0003t0001 a0011c0038t0001 a0017c0040t0009 a0020c0025t0001 a0028c0036t0001 a0063c0080t0001 a0066c0053t0001 a0073c0054t0001 a0079c0055t0001 a0090c0046t0001	a0004c0003t0001g0148 a0011c0038t0001g0082 a0017c0040t0009g0039 others(8): Show a0004c0003t0001g0148 a0011c0038t0001g0082 a0017c0040t0009g0039 a0020c0025t0001g0014 a0028c0036t0001g0120 a0028c0036t0001g0209 a0063c0080t0001g0164 a0066c0053t0001g0229 a0073c0054t0001g0213 a0079c0055t0001g0117 a0090c0046t0001g0111	12	282	0.0426	20	c.694 others(39): Show c.6942+1023_6942+1024insCACACCCATTCACACCTGTT	DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	54/55		INFO_REALIGN_3_PRIME	chr10	TogoVar
DMBX1_chr1_46484836_46521216	46501192	C C	CCCTCCCT others(13): Show CCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp1 HG01169.hp2 others(2): Show HG00323.hp2 HG01168.hp1 HG01169.hp2 HG02109.hp1 NA18971.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0009 a0001c0004t0006 a0001c0004t0009	a0001c0004t0006g0053 a0001c0004t0006g0076 a0001c0004t0006g0080 others(2): Show a0001c0004t0006g0053 a0001c0004t0006g0076 a0001c0004t0006g0080 a0001c0004t0009g0057 a0001c0004t0009g0058	5	430	0.0116	20	c.-12 others(37): Show c.-12-5804_-12-5803insCCCTTCCTTCCTTCCTTCCT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501192	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp2 HG01192.hp1 others(19): Show HG00323.hp1 HG01123.hp2 HG01192.hp1 HG01993.hp2 HG02055.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 NA18948.hp2 NA18970.hp2 NA19001.hp2 NA19062.hp2 NA19070.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0009 a0003c0010	a0001c0001t0006 a0001c0002t0003 a0001c0002t0004 others(7): Show a0001c0001t0006 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0005t0007 a0001c0005t0019 a0001c0005t0034 a0001c0007t0003 a0001c0009t0031 a0003c0010t0015	a0001c0001t0006g0207 a0001c0002t0003g0036 a0001c0002t0003g0157 others(16): Show a0001c0001t0006g0207 a0001c0002t0003g0036 a0001c0002t0003g0157 a0001c0002t0003g0176 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0087 a0001c0002t0004g0109 a0001c0002t0004g0116 a0001c0002t0004g0117 a0001c0002t0004g0122 a0001c0002t0008g0162 a0001c0005t0007g0102 a0001c0005t0019g0244 a0001c0005t0034g0100 a0001c0007t0003g0145 a0001c0009t0031g0245 a0003c0010t0015g0189 a0003c0010t0015g0192	22	430	0.0512	20	c.-12 others(37): Show c.-12-5802_-12-5783dupCCTTCCTTCCTTCCTTCCTT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501213	C C	CCTTCCTT others(13): Show CCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02080.hp2 HG03490.hp1 HG01358.hp1 HG02080.hp2 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0003 a0001c0007t0003 a0001c0002t0003 a0001c0007t0003	a0001c0002t0003g0167 a0001c0002t0003g0177 a0001c0007t0003g0148 a0001c0002t0003g0167 a0001c0002t0003g0177 a0001c0007t0003g0148	3	430	0.0070	20	c.-12 others(37): Show c.-12-5783_-12-5782insCCTTCCTTCCTTCCTTTCTT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)