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
DMD_chrX_31114222_33216549	32807122	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02976.hp2 HG03486.hp1 HG02965.hp1 HG02976.hp2 HG03486.hp1	a0002 a0005 a0002 a0005	a0002c0052 a0005c0053 a0005c0057 a0002c0052 a0005c0053 a0005c0057	a0002c0052t0025 a0005c0053t0004 a0005c0057t0001 a0002c0052t0025 a0005c0053t0004 a0005c0057t0001	a0002c0052t0025g0095 a0005c0053t0004g0103 a0005c0057t0001g0109 a0002c0052t0025g0095 a0005c0053t0004g0103 a0005c0057t0001g0109	3	126	0.0238	21	c.649 others(38): Show c.649+2350_649+2370dupTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32870981	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0036 a0036	a0036c0021 a0036c0021	a0036c0021t0017 a0036c0021t0017	a0036c0021t0017g0009 a0036c0021t0017g0009	1	126	0.0079	21	c.94- others(38): Show c.94-21162_94-21161insCTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33045315	T T	TCACACAC others(14): Show TCACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0042 a0008c0010t0001g0042	1	126	0.0079	21	c.32- others(38): Show c.32-25116_32-25115insGTGTGTGTGTGTGTGTGTGTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33051646	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19043.hp1 HG02145.hp1 NA19043.hp1	a0010 a0029 a0010 a0029	a0010c0031 a0029c0044 a0010c0031 a0029c0044	a0010c0031t0001 a0029c0044t0014 a0010c0031t0001 a0029c0044t0014	a0010c0031t0001g0096 a0029c0044t0014g0094 a0010c0031t0001g0096 a0029c0044t0014g0094	2	126	0.0159	21	c.32- others(38): Show c.32-31447_32-31446insAAAAAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33108868	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0009 a0002c0016t0009	a0002c0016t0009g0014 a0002c0016t0009g0014	1	126	0.0079	21	c.32- others(38): Show c.32-88669_32-88668insTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DMP1_chr4_87645280_87669357	87653407	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0097 a0002c0001t0001g0097	1	430	0.0023	21	c.-22 others(38): Show c.-22+3024_-22+3044dupTATATATATATATATATATAT	DMP1	ENSG00000152592.15	transcript	ENST00000339673.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
DMPK_chr19_45764717_45787490	45770204	C C	CCAGCAGC others(14): Show CCAGCAGCAGCAGCAGCAGCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18961.hp1 NA18979.hp1 NA18961.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0049 a0001c0001t0016g0058 a0001c0001t0016g0049 a0001c0001t0016g0058	2	416	0.0048	21	c.26 others(30): Show c.263_*283dupCTGCTGCTGCTGCTGCTGCTG	DMPK	ENSG00000104936.20	transcript	ENST00000291270.9	protein_coding	15/15	283		chr19	TogoVar
DMRT1_chr9_836697_974090	842230	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03130.hp1 HG02922.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0296 a0001c0001t0007g0297 a0001c0001t0001g0296 a0001c0001t0007g0297	2	306	0.0065	21	c.354 others(34): Show c.354+41_354+61dupTTTTTTTTTTTTTTTTTTTTT	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT2_chr9_1045357_1062552	1060726	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0020 a0001c0008t0003g0020	1	488	0.0021	21	c.34 others(32): Show c.3453_*3454insTTTTTTTTTTTTTTTTTTTTT	DMRT2	ENSG00000173253.16	transcript	ENST00000358146.7	protein_coding		3175		chr9	TogoVar
DMRTC1_chrX_72867025_72948837	72943796	G G	GAGGAGCA others(14): Show GAGGAGCAGGAGGAGGAGGAGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 NA18961.hp1 HG00140.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0003 a0001c0001t0005g0004	2	54	0.0370	21	c.-31 others(30): Show c.-317_-316insGCTCCTCCTCCTCCTGCTCCT	DMRTC1	ENSG00000269502.6	transcript	ENST00000615063.2	protein_coding	1/7	68103		chrX	TogoVar
DMTN_chr8_22051814_22087525	22079269	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	324	0.0031	21	c.836 others(36): Show c.836-911_836-910insTATATATATATATATATATAT	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15			chr8	TogoVar
DMTN_chr8_22051814_22087525	22079277	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	324	0.0031	21	c.836 others(36): Show c.836-903_836-902insTATATATATATATATATATAT	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15			chr8	TogoVar
DMTN_chr8_22051814_22087525	22079301	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01516.hp1 others(9): Show HG00323.hp2 HG01069.hp2 HG01516.hp1 HG01517.hp1 HG01993.hp1 HG02523.hp1 HG03492.hp1 NA18947.hp1 NA18999.hp1 NA18999.hp2 NA19085.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0020 a0001c0001t0001 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0003 a0001c0001t0001g0067 a0001c0001t0001g0070 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0135 a0001c0001t0001g0177 a0001c0001t0001g0192 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0019g0149 a0001c0001t0020g0003	12	324	0.0370	21	c.836 others(36): Show c.836-879_836-878insATATATATATATATATATATA	DMTN	ENSG00000158856.19	transcript	ENST00000358242.6	protein_coding	10/15			chr8	TogoVar
DMXL1_chr5_119066087_119254127	119089292	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	238	0.0042	21	c.88- others(36): Show c.88-8686_88-8685insATATATATATATATATATATT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119089999	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0077 a0001c0008t0001g0077	1	238	0.0042	21	c.88- others(36): Show c.88-7962_88-7942dupTTTTTTTTTTTTTTTTTTTTT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	1/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL2_chr15_51442791_51627771	51521414	C C	CTAGTAGT others(14): Show CTAGTAGTAGTAGTAGTAGTAG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	346	0.0029	21	c.243 others(40): Show c.2437-4268_2437-4248dupCTACTACTACTACTACTACTA	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding	13/43			chr15	TogoVar
DMXL2_chr15_51442791_51627771	51624257	T T	TCTCCCCC others(14): Show TCTCCCCCCTCCCTCCCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0062 a0001c0019t0001g0062	1	346	0.0029	21	c.-17 others(32): Show c.-1713_-1712insGGAAGGGGAGGGAGGGGGGAG	DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding		1487		chr15	TogoVar
DNAAF10_chr2_68124805_68162527	68130131	T T	TATATATA others(14): Show TATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0078 a0001c0001t0051g0078	1	432	0.0023	21	c.11 others(32): Show c.1106_*1107insTATATATATATATATATATAT	DNAAF10	ENSG00000243667.7	transcript	ENST00000295121.11	protein_coding	8/8	1106		chr2	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTCTCTTT others(14): Show CTCTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18612.hp1 HG01106.hp1 NA18612.hp1	a0015 a0018 a0015 a0018	a0015c0019 a0018c0046 a0015c0019 a0018c0046	a0015c0019t0003 a0018c0046t0003 a0015c0019t0003 a0018c0046t0003	a0015c0019t0003g0173 a0018c0046t0003g0172 a0015c0019t0003g0173 a0018c0046t0003g0172	2	456	0.0044	21	c.125 others(36): Show c.125-410_125-409insCTCTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF1_chr16_84140308_84182918	84148596	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0026 a0010c0013t0001g0026	1	456	0.0022	21	c.125 others(36): Show c.125-393_125-392insTTTTTTTTTTTTTTTTTTTTT	DNAAF1	ENSG00000154099.18	transcript	ENST00000378553.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
DNAAF3_chr19_55153665_55171613	55158891	A A	AATGGAAT others(14): Show AATGGAATTTGAAAGCTCAGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0106	1	398	0.0025	21	c.17 others(30): Show c.170_*171insGTCTGAGCTTTCAAATTCCAT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding	12/12	170		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55167634	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAGAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0042 a0002c0006t0001g0042	1	398	0.0025	21	c.-11 others(32): Show c.-1117_-1116insCTTTTTTCTTTTTTTTTTTTT	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		1022		chr19	TogoVar
DNAAF3_chr19_55153665_55171613	55170872	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	398	0.0025	21	c.-43 others(32): Show c.-4355_-4354insAGAGAGAGAGAGAGAGAGAGA	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		4260		chr19	TogoVar
DNAAF4_chr15_55425308_55513234	55426107	A A	AATTGAAG others(14): Show AATTGAAGCTGTCCTCTTACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02055.hp2 others(21): Show HG01167.hp2 HG01169.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02647.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0005 a0005c0004t0003 a0005c0004t0005	a0005c0004t0003g0066 a0005c0004t0003g0258 a0005c0004t0003g0259 others(21): Show a0005c0004t0003g0066 a0005c0004t0003g0258 a0005c0004t0003g0259 a0005c0004t0003g0260 a0005c0004t0003g0320 a0005c0004t0003g0321 a0005c0004t0003g0322 a0005c0004t0003g0323 a0005c0004t0003g0324 a0005c0004t0003g0325 a0005c0004t0003g0326 a0005c0004t0003g0327 a0005c0004t0003g0328 a0005c0004t0003g0329 a0005c0004t0003g0330 a0005c0004t0003g0331 a0005c0004t0003g0332 a0005c0004t0003g0333 a0005c0004t0003g0334 a0005c0004t0003g0335 a0005c0004t0003g0336 a0005c0004t0003g0337 a0005c0004t0003g0338 a0005c0004t0005g0257	24	338	0.0710	21	c.45 others(32): Show c.4542_*4562dupGTGTAAGAGGACAGCTTCAAT	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding		4200		chr15	TogoVar
DNAAF4_chr15_55425308_55513234	55447787	G G	GAGAGGGG others(14): Show GAGAGGGGAGAGGGGAGAGGGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02630.hp2 HG02647.hp2 others(4): Show HG02523.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 NA18957.hp1 NA18973.hp2 NA19079.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0005c0004t0003 a0001c0001t0001 a0005c0004t0003	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0121 others(4): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0202 a0001c0001t0001g0223 a0001c0001t0001g0231 a0005c0004t0003g0284	7	338	0.0207	21	c.783 others(38): Show c.783+2414_783+2434dupGCCCTCTCCCCTCTCCCCTCT	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	6/9			chr15	TogoVar
DNAAF6_chrX_107201611_107249247	107229127	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	296	0.0034	21	c.429 others(38): Show c.429+6294_429+6314dupTTTTTTTTTTTTTTTTTTTTT	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
DNAAF9_chr20_3244306_3412669	3293292	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0354 a0001c0006t0008g0354	1	362	0.0028	21	c.223 others(38): Show c.2238+826_2238+846dupTTTTTTTTTTTTTTTTTTTTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	25/36			chr20	TogoVar
DNAAF9_chr20_3244306_3412669	3310333	A A	AAAAGAAA others(14): Show AAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0032 a0001c0003t0004g0032	1	362	0.0028	21	c.167 others(40): Show c.1678+4699_1678+4700insCTTTCTTTCTTTTCTTTCTTT	DNAAF9	ENSG00000088854.13	transcript	ENST00000252032.10	protein_coding	20/36			chr20	TogoVar
DNAH10_chr12_123757301_123940714	123809651	A A	AAACAACA others(14): Show AAACAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0065 a0065	a0065c0094 a0065c0094	a0065c0094t0002 a0065c0094t0002	a0065c0094t0002g0151 a0065c0094t0002g0151	1	170	0.0059	21	c.314 others(38): Show c.3144+706_3144+726dupACAACAACAACAACAACAACA	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	19/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911594	T T	TGGGGGGG others(14): Show TGGGGGGGGGGGTCTGTCCTGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0070 a0070	a0070c0086 a0070c0086	a0070c0086t0002 a0070c0086t0002	a0070c0086t0002g0156 a0070c0086t0002g0156	1	170	0.0059	21	c.101 others(40): Show c.10134+931_10134+932insGGTCTGTCCTGGGGGGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0223 a0223	a0223c0259 a0223c0259	a0223c0259t0007 a0223c0259t0007	a0223c0259t0007g0220 a0223c0259t0007g0220	1	298	0.0034	21	c.100 others(40): Show c.10026+466_10026+467insCTTTCTTTCTTTCTTTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789816	C C	CTTTCTTT others(14): Show CTTTCTTTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0079 a0079	a0079c0170 a0079c0170	a0079c0170t0001 a0079c0170t0001	a0079c0170t0001g0117 a0079c0170t0001g0117	1	298	0.0034	21	c.100 others(40): Show c.10026+481_10026+482insTTCTTTCTTTCTTTTTTCTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57302568	T T	TATATATA others(14): Show TATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0003 a0009c0025t0003	a0009c0025t0003g0004 a0009c0025t0003g0004	1	266	0.0038	21	c.111 others(40): Show c.11190-630_11190-629insCATATATATATATATATATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	69/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	266	0.0038	21	c.730 others(40): Show c.7305+1447_7305+1448insATATATATATATATTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAATATA others(14): Show AAAATATATATATATATATTAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0048 a0048	a0048c0052 a0048c0052	a0048c0052t0001 a0048c0052t0001	a0048c0052t0001g0239 a0048c0052t0001g0239	1	266	0.0038	21	c.730 others(40): Show c.7305+1447_7305+1448insATAATATATATATATATATTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499645	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	266	0.0038	21	c.133 others(40): Show c.1335+1675_1335+1676insATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH17_chr17_78418697_78582396	78432213	A A	AAATAAAT others(14): Show AAATAAATAAATAAATAAAATT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0133 a0133	a0133c0202 a0133c0202	a0133c0202t0002 a0133c0202t0002	a0133c0202t0002g0119 a0133c0202t0002g0119	1	252	0.0040	21	c.122 others(42): Show c.12225+1815_12225+1816insAATTTTATTTATTTATTTATT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	75/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78433915	G G	GGGAAGGG others(14): Show GGGAAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0044 a0002c0003t0001g0044	1	252	0.0040	21	c.122 others(40): Show c.12225+113_12225+114insTTCCTTCCTTCCTTCCCTTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	75/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78540763	A A	AGTGGATG others(14): Show AGTGGATGGGTGGGTGGGGTGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0150 a0150	a0150c0231 a0150c0231	a0150c0231t0001 a0150c0231t0001	a0150c0231t0001g0136 a0150c0231t0001g0136	1	252	0.0040	21	c.253 others(38): Show c.2533-904_2533-884dupCCACCCCACCCACCCATCCAC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541025	T T	TGAGCGGG others(14): Show TGAGCGGGGTGGGGGGGTGAGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18964.hp1 HG02965.hp1 NA18964.hp1	a0001 a0027 a0001 a0027	a0001c0131 a0027c0028 a0001c0131 a0027c0028	a0001c0131t0001 a0027c0028t0001 a0001c0131t0001 a0027c0028t0001	a0001c0131t0001g0041 a0027c0028t0001g0116 a0001c0131t0001g0041 a0027c0028t0001g0116	2	252	0.0079	21	c.253 others(40): Show c.2533-1146_2533-1145insGCTCACCCCCCCACCCCGCTC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78544800	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02004.hp2 HG04199.hp2 others(4): Show HG01168.hp2 HG02004.hp2 HG04199.hp2 HG04228.hp2 NA18959.hp2 NA18982.hp2 NA20129.hp2	a0002 a0005 a0022 others(3): Show a0002 a0005 a0022 a0024 a0082 a0107	a0002c0089 a0002c0178 a0005c0186 others(4): Show a0002c0089 a0002c0178 a0005c0186 a0022c0022 a0024c0018 a0082c0174 a0107c0082	a0002c0089t0001 a0002c0178t0001 a0005c0186t0001 others(4): Show a0002c0089t0001 a0002c0178t0001 a0005c0186t0001 a0022c0022t0001 a0024c0018t0001 a0082c0174t0002 a0107c0082t0002	a0002c0089t0001g0037 a0002c0178t0001g0150 a0005c0186t0001g0086 others(4): Show a0002c0089t0001g0037 a0002c0178t0001g0150 a0005c0186t0001g0086 a0022c0022t0001g0013 a0024c0018t0001g0012 a0082c0174t0002g0153 a0107c0082t0002g0038	7	252	0.0278	21	c.239 others(38): Show c.2392-824_2392-804dupTTTTTTTTTTTTTTTTTTTTT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	16/80			chr17	TogoVar
DNAH3_chr16_20928111_21155846	21020397	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0004 a0004	a0004c0097 a0004c0097	a0004c0097t0001 a0004c0097t0001	a0004c0097t0001g0059 a0004c0097t0001g0059	1	234	0.0043	21	c.563 others(38): Show c.5639-529_5639-528insAAAAAAAAAAATATATATATA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21020397	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA18975.hp1 NA19090.hp2 HG01168.hp1 NA18975.hp1 NA19090.hp2	a0006 a0024 a0054 a0006 a0024 a0054	a0006c0008 a0024c0045 a0054c0101 a0006c0008 a0024c0045 a0054c0101	a0006c0008t0001 a0024c0045t0001 a0054c0101t0001 a0006c0008t0001 a0024c0045t0001 a0054c0101t0001	a0006c0008t0001g0107 a0024c0045t0001g0104 a0054c0101t0001g0058 a0006c0008t0001g0107 a0024c0045t0001g0104 a0054c0101t0001g0058	3	234	0.0128	21	c.563 others(38): Show c.5639-529_5639-528insAAAAAAAAAAAAATATATATA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH7_chr2_195732703_196073837	195766167	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01975.hp2 HG02615.hp1 others(4): Show HG01070.hp1 HG01975.hp2 HG02615.hp1 NA18947.hp2 NA18970.hp2 NA18995.hp2 NA19081.hp2	a0001 a0023 a0040 a0001 a0023 a0040	a0001c0001 a0001c0022 a0023c0052 others(1): Show a0001c0001 a0001c0022 a0023c0052 a0040c0055	a0001c0001t0002 a0001c0001t0010 a0001c0022t0002 others(2): Show a0001c0001t0002 a0001c0001t0010 a0001c0022t0002 a0023c0052t0002 a0040c0055t0002	a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 others(4): Show a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0010g0163 a0001c0022t0002g0213 a0023c0052t0002g0199 a0040c0055t0002g0150	7	256	0.0273	21	c.114 others(42): Show c.11433+5472_11433+5492dupAAAAAAAAAAAAAAAAAAAAA	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	61/64			chr2	TogoVar
DNAH7_chr2_195732703_196073837	195906423	A A	ACACACAC others(14): Show ACACACACACACACACACACTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0044 a0008c0009t0002g0044	1	256	0.0039	21	c.433 others(38): Show c.4335+235_4335+236insAAGTGTGTGTGTGTGTGTGTG	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	27/64			chr2	TogoVar
DNAH7_chr2_195732703_196073837	195950851	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0097 a0003c0004t0001g0097	1	256	0.0039	21	c.307 others(40): Show c.3078+6389_3078+6409dupTTTTTTTTTTTTTTTTTTTTT	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	19/64			chr2	TogoVar
DNAH8_chr6_38710311_39035792	38715948	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0023 a0023	a0023c0039 a0023c0039	a0023c0039t0001 a0023c0039t0001	a0023c0039t0001g0247 a0023c0039t0001g0247	1	284	0.0035	21	c.-35 others(36): Show c.-35+534_-35+535insTTTTTTTTTTTTTTTTTTTTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38715952	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0023 a0023	a0023c0039 a0023c0039	a0023c0039t0001 a0023c0039t0001	a0023c0039t0001g0244 a0023c0039t0001g0244	1	284	0.0035	21	c.-35 others(36): Show c.-35+538_-35+539insTTTTTTTTTTTTTTTTTTTTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38715960	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0203 a0006c0005t0001g0203	1	284	0.0035	21	c.-35 others(36): Show c.-35+546_-35+547insATATATATATTTTTTTTTTTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38715960	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0198 a0004c0006t0001g0198	1	284	0.0035	21	c.-35 others(36): Show c.-35+546_-35+547insATATATATTTTTTTTTTTTTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)