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.

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
HEATR5A_chr14_31286788_31425550	31408947	C C	CGGGCGTA others(28): Show CGGGCGTAGTGCGGGCGCCTGTAGTCCCAACTACTT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0207 a0003c0003t0001g0207	1	354	0.0028	35	c.-74 others(52): Show c.-74-5899_-74-5898insAAGTAGTTGGGACTACAGGCGCCCGCAC TACGCCC	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	1/35			chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03688.hp1 HG02155.hp2 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0270 a0001c0002t0001g0223 a0001c0002t0001g0270	2	314	0.0064	35	c.591 others(54): Show c.5912-2422_5912-2421insATATATATATATATATATATTTTTTT TTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0004 a0001c0033t0004	a0001c0033t0004g0308 a0001c0033t0004g0308	1	314	0.0032	35	c.591 others(54): Show c.5912-2422_5912-2421insATATATATATATATATATATATTTTT TTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	314	0.0032	35	c.591 others(54): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR9_chr17_35849955_35873891	35864891	C C	CTGTGTGA others(28): Show CTGTGTGAGAAATTGCATAGGCAGCTTTGGTCCCTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	379	0.0026	35	c.321 others(47): Show c.321-36_321-2dupAAGGGACCAAAGCTGCCTATGCAATTTCTCACA CA	HEATR9	ENSG00000270379.6	transcript	ENST00000604834.6	protein_coding	3/14			chr17	TogoVar
HECW2_chr2_196189072_196598554	196278133	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0086 a0001c0008t0005g0086	1	112	0.0089	35	c.313 others(52): Show c.3135+394_3135+395insATATATATATATATATATATATATATAT ATATTTT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	15/28			chr2	TogoVar
HELB_chr12_66297493_66343199	66327064	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0210 a0002c0001t0002g0210	1	390	0.0026	35	c.267 others(54): Show c.2670+1938_2670+1939insTATATATATATATATATATATATATA TATATATAT	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12			chr12	TogoVar
HELB_chr12_66297493_66343199	66327066	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18950.hp1 NA18967.hp2 others(2): Show HG02071.hp1 NA18950.hp1 NA18967.hp2 NA19009.hp1 NA19082.hp1	a0002 a0005 a0002 a0005	a0002c0001 a0005c0006 a0002c0001 a0005c0006	a0002c0001t0002 a0005c0006t0002 a0002c0001t0002 a0005c0006t0002	a0002c0001t0002g0101 a0002c0001t0002g0191 a0002c0001t0002g0196 others(2): Show a0002c0001t0002g0101 a0002c0001t0002g0191 a0002c0001t0002g0196 a0002c0001t0002g0197 a0005c0006t0002g0261	5	390	0.0128	35	c.267 others(54): Show c.2670+1940_2670+1941insTATATATATATATATATATATATATA TATATATAT	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12			chr12	TogoVar
HERC1_chr15_63603618_63838948	63737460	T T	TATATATA others(28): Show TATATATATATCTTTTTTCCAGATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0034 a0003c0002t0001g0034	1	216	0.0046	35	c.252 others(54): Show c.2521-2646_2521-2612dupGTATATATATATATCTGGAAAAAAGA TATATATAT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HEY1_chr8_79759010_79772767	79769371	A A	ATCTTTTT others(28): Show ATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG02922.hp2 NA20129.hp2 HG01069.hp2 HG02922.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	3	460	0.0065	35	c.-17 others(46): Show c.-1709_-1708insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG A	HEY1	ENSG00000164683.19	transcript	ENST00000354724.8	protein_coding		1605		chr8	TogoVar
HGFAC_chr4_3436968_3454486	3440674	C C	CCATTCAC others(28): Show CCATTCACCGTGCCCCCAGCACCCACCATGCCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02717.hp2 others(1): Show HG02055.hp2 HG02451.hp2 HG02717.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0079 a0001c0001t0001g0026 a0001c0001t0001g0079	4	454	0.0088	35	c.-13 others(46): Show c.-1328_-1327insCATTCACCGTGCCCCCAGCACCCACCATGCCTCC A	HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding		1293		chr4	TogoVar
HGFAC_chr4_3436968_3454486	3440694	A A	ACCCACCA others(28): Show ACCCACCATGCCTCCACATTCACCGTGCCCCCAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 NA20752.hp2 HG01261.hp2 NA20752.hp2	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0001 a0009c0026t0001	a0009c0026t0001g0043 a0009c0026t0001g0052 a0009c0026t0001g0043 a0009c0026t0001g0052	2	454	0.0044	35	c.-13 others(46): Show c.-1308_-1307insCCCACCATGCCTCCACATTCACCGTGCCCCCAGG G	HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding		1273		chr4	TogoVar
HGFAC_chr4_3436968_3454486	3440760	C C	CCCCCATT others(28): Show CCCCCATTCACCGTGCCCCCAGCACCCACCATGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0001 a0001c0043t0001g0001	1	454	0.0022	35	c.-12 others(46): Show c.-1242_-1241insCCCCATTCACCGTGCCCCCAGCACCCACCATGCC T	HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding		1207		chr4	TogoVar
HGFAC_chr4_3436968_3454486	3440763	C C	CCATTCAC others(28): Show CCATTCACCGTGCCCCCAGCACCCACCATGCCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG01346.hp1 others(19): Show HG00597.hp1 HG00735.hp1 HG01346.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp1 HG02080.hp2 HG02129.hp1 HG02559.hp1 HG02615.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 NA18612.hp1 NA18747.hp1 NA18947.hp2 NA18973.hp2 NA18989.hp2 NA19004.hp2 NA19011.hp1 NA19057.hp1 NA19060.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0017 a0001c0005 a0001c0006 a0001c0017	a0001c0005t0001 a0001c0006t0001 a0001c0017t0001 a0001c0005t0001 a0001c0006t0001 a0001c0017t0001	a0001c0005t0001g0006 a0001c0005t0001g0014 a0001c0005t0001g0016 others(5): Show a0001c0005t0001g0006 a0001c0005t0001g0014 a0001c0005t0001g0016 a0001c0005t0001g0023 a0001c0005t0001g0076 a0001c0006t0001g0014 a0001c0017t0001g0006 a0001c0017t0001g0065	22	454	0.0485	35	c.-12 others(46): Show c.-1239_-1238insCATTCACCGTGCCCCCAGCACCCACCATGCCTCC A	HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding		1204		chr4	TogoVar
HGF_chr7_81694010_81775047	81697198	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	272	0.0037	35	c.53 others(46): Show c.5382_*5383insTATATATATATATATATATATATATATATATATA T	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding		1811		chr7	TogoVar
HHAT_chr1_210323902_210681290	210526367	G G	GTTTTGTT others(28): Show GTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19009.hp1 NA19005.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0039 a0001c0002t0002g0033 a0001c0002t0001g0039 a0001c0002t0002g0033	2	268	0.0075	35	c.104 others(56): Show c.1043+13183_1043+13184insGTTTTGTTTTGTTTTGTTTTGTTT TTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210526367	G G	GTTTTGTT others(28): Show GTTTTGTTTTGTTTTGTTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02080.hp1 NA18939.hp2 others(11): Show HG01070.hp1 HG02080.hp1 NA18939.hp2 NA18944.hp2 NA18955.hp2 NA18969.hp1 NA18974.hp2 NA18985.hp1 NA19002.hp1 NA19010.hp1 NA19010.hp2 NA19086.hp2 NA19091.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0021 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004	a0001c0001t0001g0221 a0001c0001t0002g0157 a0001c0001t0003g0244 others(11): Show a0001c0001t0001g0221 a0001c0001t0002g0157 a0001c0001t0003g0244 a0001c0002t0001g0036 a0001c0002t0001g0062 a0001c0002t0002g0021 a0001c0002t0003g0101 a0001c0002t0006g0042 a0001c0002t0021g0019 a0002c0003t0001g0120 a0002c0003t0001g0256 a0002c0003t0002g0109 a0002c0003t0002g0259 a0002c0003t0004g0119	14	268	0.0522	35	c.104 others(56): Show c.1043+13183_1043+13184insGTTTTGTTTTGTTTTGTTTTTTTT TTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHIP_chr4_144641156_144750271	144641377	T T	TTTTAAAA others(28): Show TTTTAAAAAAAACAACCAGATCATACCCACCATAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	316	0.0032	35	c.-52 others(46): Show c.-5299_-5298insTTTAAAAAAAACAACCAGATCATACCCACCATAA C	HHIP	ENSG00000164161.10	transcript	ENST00000296575.8	protein_coding		4778		chr4	TogoVar
HIF3A_chr19_46292042_46348433	46310757	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0344 a0001c0001t0003g0344	1	418	0.0024	35	c.770 others(52): Show c.770+1400_770+1401insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
HIKESHI_chr11_86297240_86350943	86308244	A A	AAAATATA others(28): Show AAAATATATATTACATATAAAATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	398	0.0025	35	c.268 others(52): Show c.268+1784_268+1785insATATATTATATATAAATATATATTACAT ATAAAAT	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HINFP_chr11_119116580_119141059	119129490	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0214 a0001c0001t0008g0214	1	404	0.0025	35	c.182 others(52): Show c.182-1220_182-1219insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	HINFP	ENSG00000172273.13	transcript	ENST00000350777.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIPK4_chr19_40374271_40395181	40377299	C C	CACAGGCA others(28): Show CACAGGCAGAGGGGTCAGGGCTGGGATGGAGGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp2 others(88): Show HG00099.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01928.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02273.hp1 HG02451.hp2 HG02523.hp2 HG02630.hp1 HG02698.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG04199.hp2 NA18612.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19079.hp2 NA19085.hp1 NA19089.hp2 NA19091.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0009 a0010 a0011	a0001c0001 a0002c0002 a0002c0005 others(5): Show a0001c0001 a0002c0002 a0002c0005 a0004c0004 a0005c0008 a0009c0009 a0010c0020 a0011c0012	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0004c0004t0001 a0005c0008t0001 a0009c0009t0001 a0010c0020t0001 a0011c0012t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0023 others(41): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0005t0001g0028 a0002c0005t0001g0058 a0004c0004t0001g0027 a0004c0004t0001g0180 a0005c0008t0001g0049 a0009c0009t0001g0079 a0009c0009t0001g0089 a0010c0020t0001g0063 a0011c0012t0001g0090	91	382	0.2382	35	c.22 others(46): Show c.2253_*2287dupACCTCCTCCATCCCAGCCCTGACCCCTCTGCCTG T	HIPK4	ENSG00000160396.9	transcript	ENST00000291823.3	protein_coding		1971		chr19	TogoVar
HIVEP1_chr6_12007312_12169999	12141691	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0210 a0004c0004t0001g0210	1	344	0.0029	35	c.648 others(54): Show c.6487+5828_6487+5829insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP2_chr6_142746469_142950176	142793673	T T	TTCTTTTT others(28): Show TTCTTTTTTTTTTCTTTCTTTCTTTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18979.hp1 NA19078.hp1 HG02074.hp2 NA18979.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0020 a0001c0001 a0001c0007 a0001c0020	a0001c0001t0001 a0001c0007t0001 a0001c0020t0001 a0001c0001t0001 a0001c0007t0001 a0001c0020t0001	a0001c0001t0001g0248 a0001c0007t0001g0234 a0001c0020t0001g0095 a0001c0001t0001g0248 a0001c0007t0001g0234 a0001c0020t0001g0095	3	288	0.0104	35	c.-52 others(56): Show c.-527-10059_-527-10058insGAGAGAGAGAGAAAGAAAGAAAGA AAAAAAAAAGA	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar
HK2_chr2_74829127_74898359	74882605	T T	TTTATATA others(28): Show TTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	394	0.0025	35	c.183 others(52): Show c.1839+367_1839+368insTATATATATATATATATATATATATATA TATATAT	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
HLA-DRA_chr6_32434887_32450046	32449677	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0009 a0003c0003t0002g0009	1	459	0.0022	35	c.50 others(46): Show c.5037_*5038insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	HLA-DRA	ENSG00000204287.14	transcript	ENST00000395388.7	protein_coding		4632		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722755	A A	AGGAAGAG others(28): Show AGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	443	0.0023	35	c.-70 others(44): Show c.-709_-708insGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		678		chr6	TogoVar
HMBOX1_chr8_28885395_29058262	29003555	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	344	0.0029	35	c.587 others(52): Show c.587-5517_587-5516insTATATATATATATATATATATATATATA TATATAT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	4/9			chr8	TogoVar
HMGN1_chr21_39337315_39354088	39337386	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	414	0.0024	35	c.57 others(46): Show c.5725_*5726insATATATATATATATATATATATATATATATATAT A	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4928		chr21	TogoVar
HMMR_chr5_163455632_163496941	163494876	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp2 HG03225.hp2 others(2): Show HG02896.hp1 HG02896.hp2 HG03225.hp2 HG06807.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0023 a0003c0003t0001g0160 a0003c0003t0001g0165 others(1): Show a0003c0003t0001g0023 a0003c0003t0001g0160 a0003c0003t0001g0165 a0003c0003t0001g0166	5	406	0.0123	35	c.37 others(46): Show c.3712_*3713insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	HMMR	ENSG00000072571.20	transcript	ENST00000393915.9	protein_coding		2936		chr5	TogoVar
HMSD_chr18_63944301_63966835	63963087	T T	TTCTTTCT others(28): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0072 a0001c0001t0009g0072	1	404	0.0025	35	c.27 others(46): Show c.2732_*2733insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTT C	HMSD	ENSG00000221887.6	transcript	ENST00000408945.5	protein_coding		1253		chr18	TogoVar
HNF4A_chr20_44350699_44437845	44385059	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0214 a0001c0001t0026g0214	1	322	0.0031	35	c.50- others(52): Show c.50-20971_50-20970insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	348	0.0029	35	c.295 others(52): Show c.295-4283_295-4282insAAAAATATATATATATATATATATATAT ATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868542	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18999.hp1 HG03942.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0144 a0001c0001t0001g0012 a0001c0001t0001g0144	2	348	0.0058	35	c.295 others(52): Show c.295-4284_295-4283insTATATATATATATATATATATATATATA TATATAT	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMEZ_chr14_23267422_23291132	23280698	T T	TTATTTAT others(28): Show TTATTTATTTTATTTTATATTTTATTTTATTTTATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01891.hp2 HG02683.hp2 others(2): Show HG00609.hp2 HG01891.hp2 HG02683.hp2 HG03704.hp2 NA19030.hp2	a0004 a0006 a0004 a0006	a0004c0004 a0006c0005 a0004c0004 a0006c0005	a0004c0004t0001 a0004c0004t0002 a0006c0005t0001 a0004c0004t0001 a0004c0004t0002 a0006c0005t0001	a0004c0004t0001g0166 a0004c0004t0002g0020 a0006c0005t0001g0164 a0004c0004t0001g0166 a0004c0004t0002g0020 a0006c0005t0001g0164	5	394	0.0127	35	c.41- others(50): Show c.41-3512_41-3511insTATAAAATAAAATAAAATATAAAATAAAAT AAATA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTATTTT others(28): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18612.hp1 HG02083.hp2 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0163 a0002c0002t0002g0245 a0002c0002t0002g0163 a0002c0002t0002g0245	2	394	0.0051	35	c.41- others(50): Show c.41-3588_41-3554dupAATAAAATAAAATAAAATAAAATAAAATAA AATAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(28): Show ATTTTATTTTATTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	394	0.0025	35	c.41- others(50): Show c.41-3554_41-3553insAATAAAATAAAATAAAATAAAATAATAAAA TAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(28): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTATT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	394	0.0025	35	c.41- others(50): Show c.41-3554_41-3553insAATAATAAAATAAAATAAAATAAAATAAAA TAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HOPX_chr4_56642998_56686296	56686122	T T	TATAATAT others(28): Show TATAATATAATAATATAATATATAACATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0247	1	376	0.0027	35	c.-49 others(46): Show c.-4952_-4951insTATATTATATGTTATATATTATATTATTATATTA T	HOPX	ENSG00000171476.23	transcript	ENST00000420433.6	protein_coding		4827		chr4	TogoVar
HORMAD2_chr22_30075464_30182075	30175316	A A	AATATAGA others(28): Show AATATAGAATATATATAATAATATATATAATATAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp2 HG01099.hp2 others(8): Show HG00280.hp2 HG01069.hp2 HG01099.hp2 HG01106.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01516.hp1 HG01517.hp1 HG02738.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0164 a0001c0001t0001g0173 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0262	11	350	0.0314	35	c.820 others(50): Show c.820-742_820-741insGAATATATATAATAATATATATAATATAAT ATATA	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HOXC8_chr12_54003985_54017769	54013944	T T	TTTCTCTT others(28): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18967.hp2 NA18964.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0011g0001 a0001c0001t0001g0001 a0001c0001t0011g0001	2	306	0.0065	35	c.25 others(46): Show c.2563_*2564insTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT C	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1176		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(28): Show TTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	306	0.0033	35	c.26 others(46): Show c.2619_*2620insTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCT C	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014003	T T	TCTTCTCT others(28): Show TCTTCTCTTCTCTTCTCTTCTCTCTCTTCTCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0001 a0001c0001t0053g0001	1	306	0.0033	35	c.26 others(46): Show c.2622_*2623insCTTCTCTTCTCTTCTCTTCTCTCTCTTCTCTTCT C	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1235		chr12	TogoVar
HOXD3_chr2_176152307_176178098	176168566	T T	TAAAACAA others(28): Show TAAAACAAAACAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	332	0.0030	35	c.-84 others(50): Show c.-84-444_-84-443insAAACAAAACAAAACAAAACAAAACAAAACA AAACA	HOXD3	ENSG00000128652.12	transcript	ENST00000683222.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPSE2_chr10_98452077_99240852	99132241	G G	GAGAGAGA others(28): Show GAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	142	0.0070	35	c.610 others(54): Show c.610+11996_610+11997insTTCTTTCTTTCTTTCTTTCTTTCTTC TCTCTCTCT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HS3ST3A1_chr17_13489032_13606929	13490385	A A	AATACCTA others(28): Show AATACCTATAGGTATTACTACTATAGGTATTACTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03540.hp2 NA19030.hp2 others(1): Show HG03041.hp2 HG03540.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0021 a0001c0001t0006 a0001c0001t0021	a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0200 others(1): Show a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0200 a0001c0001t0021g0321	4	338	0.0118	35	c.58 others(46): Show c.5811_*5812insGTAGTAATACCTATAGTAGTAATACCTATAGGTA T	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding		3646		chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25903302	G G	GTGTGTGT others(28): Show GTGTGTGTGTATATGTATATGTATATATTATATACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02723.hp2 others(3): Show HG02109.hp1 HG02258.hp2 HG02723.hp2 HG02886.hp2 HG03225.hp1 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0009t0024 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0009t0024 a0002c0002t0030 a0003c0004t0003	a0001c0001t0002g0023 a0001c0001t0003g0079 a0001c0001t0003g0150 others(3): Show a0001c0001t0002g0023 a0001c0001t0003g0079 a0001c0001t0003g0150 a0001c0009t0024g0139 a0002c0002t0030g0142 a0003c0004t0003g0164	6	164	0.0366	35	c.734 others(56): Show c.734+210152_734+210153insGTGTGTGTATATGTATATGTATAT ATTATATACAT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25903302	G G	GTGTGTGT others(28): Show GTGTGTGTGTGTATGTATATGTATATATTATATACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02258.hp1 others(5): Show HG01243.hp1 HG02055.hp2 HG02258.hp1 HG02451.hp2 HG03225.hp2 HG06807.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0026	a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0073 others(5): Show a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0073 a0001c0001t0004g0159 a0001c0001t0005g0157 a0001c0001t0007g0082 a0001c0001t0010g0158 a0001c0001t0026g0072	8	164	0.0488	35	c.734 others(56): Show c.734+210152_734+210153insGTGTGTGTGTATGTATATGTATAT ATTATATACAT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS6ST3_chr13_96085107_96844562	96304712	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01515.hp1 HG02523.hp1 others(1): Show HG01361.hp2 HG01515.hp1 HG02523.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0038 a0001c0001t0002g0004 a0001c0001t0002g0100 others(1): Show a0001c0001t0001g0038 a0001c0001t0002g0004 a0001c0001t0002g0100 a0001c0001t0014g0090	4	116	0.0345	35	c.707 others(56): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSD17B14_chr19_48808018_48841491	48816779	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	394	0.0025	35	c.370 others(52): Show c.370-1639_370-1638insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAA	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar

Search by Variant

Search

Search Results (Total: 4618 hits)