Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FGF10_chr5_44295247_44394420	44302275	T T	TTTCCTTG others(29): Show TTTCCTTGCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp1 HG01358.hp2 HG01257.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0257 a0001c0001t0033g0270 a0001c0001t0033g0257 a0001c0001t0033g0270	2	350	0.0057	36	c.26 others(47): Show c.2684_*2719dupGGAAGGAAGGAAGGAAGGAAGGAAGGAAGCAAGG AA	FGF10	ENSG00000070193.5	transcript	ENST00000264664.5	protein_coding	3/3	2719		chr5	TogoVar
FGF12_chr3_192134390_192732541	192158662	T T	TTCCCTCC others(29): Show TTCCCTCCCCCCTTCCTTCTTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp1 HG03098.hp2 others(8): Show HG02818.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 others(5): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0025 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036	a0001c0001t0005g0022 a0001c0001t0005g0029 a0001c0001t0010g0032 others(8): Show a0001c0001t0005g0022 a0001c0001t0005g0029 a0001c0001t0010g0032 a0001c0001t0015g0008 a0001c0001t0015g0064 a0001c0001t0018g0002 a0001c0001t0018g0024 a0001c0001t0025g0021 a0001c0001t0031g0042 a0001c0001t0034g0080 a0001c0001t0036g0006	11	90	0.1222	36	c.427 others(55): Show c.427+11795_427+11796insGGGAAGGAAGGAAGGAAAGAAGGAAG GGGGGAGGGA	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	5/5			chr3	TogoVar
FGF12_chr3_192134390_192732541	192378026	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0065 a0001c0001t0011g0065	1	90	0.0111	36	c.14- others(53): Show c.14-17524_14-17489dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FGF12_chr3_192134390_192732541	192484971	G G	GATTTTAA others(29): Show GATTTTAAATTTTATATGTGTACACATAAATTTTAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18522.hp2 NA19030.hp1 HG02818.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0032 a0001c0001t0035 a0001c0001t0005 a0001c0001t0032 a0001c0001t0035	a0001c0001t0005g0031 a0001c0001t0032g0079 a0001c0001t0035g0041 a0001c0001t0005g0031 a0001c0001t0032g0079 a0001c0001t0035g0041	3	90	0.0333	36	c.14- others(55): Show c.14-124469_14-124434dupTTTAAAATTTATGTGTACACATATAA AATTTAAAAT	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FGF12_chr3_192134390_192732541	192512835	A A	AATAAATA others(29): Show AATAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0039 a0001c0001t0011g0039	1	90	0.0111	36	c.14- others(55): Show c.14-152298_14-152297insATATATATATATATATATATATATAT ATATATTTAT	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FGF12_chr3_192134390_192732541	192512859	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0041 a0001c0001t0035g0041	1	90	0.0111	36	c.14- others(55): Show c.14-152322_14-152321insTTATATATATATATATATATATATAT ATATATATAT	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FGF18_chr5_171414647_171462626	171461605	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00735.hp1 HG01081.hp2 others(6): Show HG00558.hp2 HG00735.hp1 HG01081.hp2 HG01358.hp1 HG01496.hp1 HG01943.hp2 NA18998.hp1 NA19060.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0080 a0001c0001t0001g0145 a0001c0001t0001g0263 others(6): Show a0001c0001t0001g0080 a0001c0001t0001g0145 a0001c0001t0001g0263 a0001c0001t0001g0279 a0001c0001t0001g0303 a0001c0001t0005g0098 a0001c0002t0001g0015 a0001c0002t0001g0207 a0001c0002t0001g0336	9	388	0.0232	36	c.48 others(47): Show c.4800_*4801insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	FGF18	ENSG00000156427.8	transcript	ENST00000274625.6	protein_coding		3980		chr5	TogoVar
FGF18_chr5_171414647_171462626	171461629	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	388	0.0026	36	c.48 others(47): Show c.4824_*4825insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT CT	FGF18	ENSG00000156427.8	transcript	ENST00000274625.6	protein_coding		4004		chr5	TogoVar
FGF18_chr5_171414647_171462626	171461629	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01934.hp2 others(5): Show HG01123.hp1 HG01123.hp2 HG01934.hp2 HG01993.hp1 HG02258.hp2 HG03098.hp1 NA18961.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0146 a0001c0001t0001g0165 others(5): Show a0001c0001t0001g0124 a0001c0001t0001g0146 a0001c0001t0001g0165 a0001c0001t0001g0181 a0001c0001t0001g0250 a0001c0001t0001g0264 a0001c0001t0001g0297 a0001c0001t0001g0325	8	388	0.0206	36	c.48 others(47): Show c.4824_*4825insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TT	FGF18	ENSG00000156427.8	transcript	ENST00000274625.6	protein_coding		4004		chr5	TogoVar
FGF21_chr19_48750524_48763330	48757635	G G	GGGCTGGG others(29): Show GGGCTGGGGCCTGGAACCCCGGGTCTGAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00639.hp1 others(89): Show HG00423.hp2 HG00544.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG01106.hp1 HG01109.hp2 HG01243.hp2 HG01884.hp2 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp1 HG02630.hp2 HG02922.hp2 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03579.hp1 HG03688.hp2 HG04184.hp1 HG04228.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0002g0002 a0001c0001t0002g0071 a0001c0001t0003g0040 a0001c0001t0007g0015 a0001c0001t0008g0072 a0001c0002t0001g0050	92	456	0.2018	36	c.340 others(51): Show c.340-223_340-188dupAGGCTGGGGCCTGGAACCCCGGGTCTGAGG GAGGAG	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
FGF21_chr19_48750524_48763330	48757635	G G	GGGCTGGG others(29): Show GGGCTGGGGCCTGGACCCCTGGGTCTGAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	456	0.0022	36	c.340 others(51): Show c.340-281_340-280insCCCCTGGGTCTGAGGGAGGAGAGGCTGGGG CCTGGA	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
FGF2_chr4_122821831_122903236	122844586	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0184 a0001c0001t0011g0184	1	256	0.0039	36	c.178 others(55): Show c.178+17237_178+17238insTCTTTCTTTCTTTCTTCCTTCCTTCC TTCCTTCCTT	FGF2	ENSG00000138685.18	transcript	ENST00000644866.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
FGF5_chr4_80261664_80296017	80267733	G G	GTAGATAA others(29): Show GTAGATAAATAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02895.hp2 HG02970.hp1 HG00735.hp1 HG02895.hp2 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0014 a0002c0002t0008 a0002c0002t0014	a0002c0002t0008g0028 a0002c0002t0014g0028 a0002c0002t0008g0028 a0002c0002t0014g0028	3	456	0.0066	36	c.355 others(51): Show c.355+560_355+561insAATAGATAGATAGATAGATAGATAGATAGA TAGATA	FGF5	ENSG00000138675.17	transcript	ENST00000312465.12	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
FGFR2_chr10_121473332_121603444	121577158	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0213 a0001c0005t0004g0213	1	240	0.0042	36	c.110 others(55): Show c.110-11455_110-11454insATATATATATATATATTTTTTTTTTT TTTTTTTTTT	FGFR2	ENSG00000066468.24	transcript	ENST00000358487.10	protein_coding	2/17			chr10	TogoVar
FGFR2_chr10_121473332_121603444	121577178	T T	TATAGAGA others(29): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	240	0.0042	36	c.110 others(55): Show c.110-11475_110-11474insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTAT	FGFR2	ENSG00000066468.24	transcript	ENST00000358487.10	protein_coding	2/17			chr10	TogoVar
FGFR4_chr5_177081915_177103144	177096956	C C	CTCCTCTT others(29): Show CTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA20805.hp1 NA19240.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0159 a0002c0002t0001g0160	2	372	0.0054	36	c.215 others(53): Show c.2153+220_2153+221insTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGGY_chr1_59292094_59767730	59409594	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0095 a0002c0004t0002g0095	1	166	0.0060	36	c.554 others(55): Show c.554+30758_554+30759insATATATATATATATATATATATATAT ATATATATAT	FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
FGGY_chr1_59292094_59767730	59721337	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0103 a0007c0007t0001g0103	1	166	0.0060	36	c.151 others(57): Show c.1513-36575_1513-36574insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
FGL1_chr8_17859389_17900524	17875535	C C	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	366	0.0027	36	c.245 others(53): Show c.245-1015_245-1014insAAGAAAGAAAGAGAAAGAAAGAAAGAAA GAAAGAAA	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	3/7			chr8	TogoVar
FHIP1A_chr4_151404176_151675503	151445849	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18977.hp2 NA19082.hp1 HG02132.hp2 NA18977.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0062 a0001c0002t0002 a0001c0002t0062	a0001c0002t0002g0036 a0001c0002t0002g0061 a0001c0002t0062g0048 a0001c0002t0002g0036 a0001c0002t0002g0061 a0001c0002t0062g0048	3	252	0.0119	36	c.-35 others(55): Show c.-355-8828_-355-8827insATATATATATATATATATATATATAT ATATATATAT	FHIP1A	ENSG00000164142.16	transcript	ENST00000435205.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FHIP2B_chr8_22084150_22109911	22106419	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	394	0.0025	36	c.34 others(47): Show c.3488_*3489insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	FHIP2B	ENSG00000158863.22	transcript	ENST00000289921.8	protein_coding		1509		chr8	TogoVar
FHIT_chr3_59742277_61256452	60124009	T T	TATATATA others(29): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	46	0.0217	36	c.104 others(57): Show c.104-109858_104-109857insCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	5/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60660729	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	46	0.0217	36	c.-17 others(57): Show c.-17-123751_-17-123750insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60849441	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	46	0.0217	36	c.-11 others(57): Show c.-110-27431_-110-27430insATATATATATATATATATATATAT ATATATATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60955598	A A	ATATATAT others(29): Show ATATATATACATATGTATATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0041 a0001c0002t0006g0041	1	46	0.0217	36	c.-11 others(57): Show c.-111+86448_-111+86449insCATATATATATATACATATATACA TATGTATATATA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FHL5_chr6_96558128_96623626	96622911	A A	AATTCCTT others(29): Show AATTCCTTACATCTGAGCCCTGTAAGGCTTAATACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	378	0.0027	36	c.71 others(47): Show c.7139_*7140insATTCCTTACATCTGAGCCCTGTAAGGCTTAATAC CC	FHL5	ENSG00000112214.11	transcript	ENST00000450218.6	protein_coding		4286		chr6	TogoVar
FHOD3_chr18_36292713_36785220	36550243	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	168	0.0060	36	c.512 others(55): Show c.512-26184_512-26183insATATATATATATATATATATATATAT ATATATATAT	FHOD3	ENSG00000134775.16	transcript	ENST00000590592.6	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
FHOD3_chr18_36292713_36785220	36568436	C C	CGTGAAAG others(29): Show CGTGAAAGTTTTATGTGAACCCCTGGGCTCCACACAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03098.hp1 HG03130.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0021 a0002c0002 a0015c0042 a0001c0021 a0002c0002 a0015c0042	a0001c0021t0001 a0002c0002t0001 a0015c0042t0002 a0001c0021t0001 a0002c0002t0001 a0015c0042t0002	a0001c0021t0001g0066 a0002c0002t0001g0091 a0015c0042t0002g0106 a0001c0021t0001g0066 a0002c0002t0001g0091 a0015c0042t0002g0106	3	168	0.0179	36	c.512 others(53): Show c.512-7980_512-7979insTGTGAAAGTTTTATGTGAACCCCTGGGC TCCACACA	FHOD3	ENSG00000134775.16	transcript	ENST00000590592.6	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
FIGNL2_chr12_51812899_51853718	51834015	G G	GGACAGAT others(29): Show GGACAGATGGACAGATGGACAGATGGATGAATAGACA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01168.hp1 HG01169.hp1 HG01069.hp2 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0154 a0001c0001t0001g0019 a0001c0001t0001g0154	3	408	0.0074	36	c.-11 others(55): Show c.-11-11592_-11-11591insTGTCTATTCATCCATCTGTCCATCTG TCCATCTGTC	FIGNL2	ENSG00000261308.4	transcript	ENST00000618634.3	protein_coding	1/1			chr12	TogoVar
FIGNL2_chr12_51812899_51853718	51845480	G G	GGTGGGGG others(29): Show GGTGGGGGGTGGTGTGTGGTCTTGTGTTGGTGGGTCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0120 a0002c0002t0004g0120	1	408	0.0025	36	c.-12 others(53): Show c.-12+3059_-12+3060insGGACCCACCAACACAAGACCACACACCA CCCCCCAC	FIGNL2	ENSG00000261308.4	transcript	ENST00000618634.3	protein_coding	1/1			chr12	TogoVar
FIRRM_chr1_169790040_169859080	169851045	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0304 a0001c0002t0001g0304	1	420	0.0024	36	c.224 others(53): Show c.2244+728_2244+729insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
FKBP14_chr7_30005587_30031702	30011513	A A	ATATATAT others(29): Show ATATATATATATATACACACACCATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG03130.hp1 HG01256.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0061 a0001c0001t0020g0088 a0001c0001t0020g0061 a0001c0001t0020g0088	2	326	0.0061	36	c.31 others(47): Show c.3186_*3221dupGTATATATATATATGGTGTGTGTATATATATATA TA	FKBP14	ENSG00000106080.11	transcript	ENST00000222803.10	protein_coding	4/4	3221		chr7	TogoVar
FKBP2_chr11_64236095_64249132	64237083	C C	CAGAGAGA others(29): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	332	0.0030	36	c.-40 others(47): Show c.-4054_-4053insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		4011		chr11	TogoVar
FKBP2_chr11_64236095_64249132	64237085	A A	AAGAGAGA others(29): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	332	0.0030	36	c.-40 others(47): Show c.-4052_-4051insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		4009		chr11	TogoVar
FKBP5_chr6_35568590_35693915	35581241	T T	TTATATAT others(29): Show TTATATATAATATATATAAATATAAACATATATAATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	302	0.0033	36	c.841 others(53): Show c.841-1056_841-1021dupTATTATATATGTTTATATTTATATATAT TATATATA	FKBP5	ENSG00000096060.15	transcript	ENST00000357266.9	protein_coding	8/10			chr6	TogoVar
FKBP8_chr19_18526763_18548573	18543727	T T	TGGGGCTG others(29): Show TGGGGCTGGGGCGGGGGCTGGGGCGGGGGCTGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	390	0.0026	36	c.-30 others(45): Show c.-303_-268dupCGCCCCAGCCCCCGCCCCAGCCCCCGCCCCAGCCCC	FKBP8	ENSG00000105701.16	transcript	ENST00000608443.6	protein_coding		155		chr19	TogoVar
FKBP9_chr7_32952440_33011928	32965828	T T	TGTGTACA others(29): Show TGTGTACACATATATATATATATATATATATGTGTAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02896.hp2 others(1): Show HG02258.hp1 HG02258.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(1): Show a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 a0001c0001t0005g0328	4	430	0.0093	36	c.221 others(53): Show c.221+8034_221+8035insGTGTACACATATATATATATATATATAT ATGTGTAC	FKBP9	ENSG00000122642.11	transcript	ENST00000242209.9	protein_coding	1/9			chr7	TogoVar
FKTN_chr9_105553131_105646118	105640951	T T	TTTCTGTT others(29): Show TTTCTGTTTTTATTCTTTTTTTATTTTTGATTTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0003 a0001c0001t0031g0003	1	378	0.0027	36	c.56 others(47): Show c.5687_*5688insTTCTGTTTTTATTCTTTTTTTATTTTTGATTTTT TG	FKTN	ENSG00000106692.15	transcript	ENST00000357998.10	protein_coding	11/11	5688		chr9	TogoVar
FLNA_chrX_154343531_154379634	154361046	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0170 a0001c0002t0002g0170	1	279	0.0036	36	c.320 others(53): Show c.3207+261_3207+262insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding	21/47			chrX	TogoVar
FLNB_chr3_58003422_58177251	58100373	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0001 a0013c0022t0001	a0013c0022t0001g0116 a0013c0022t0001g0116	1	180	0.0056	36	c.134 others(55): Show c.1345+1466_1345+1467insAAAATATATATATATATATATATATA TATATATATA	FLNB	ENSG00000136068.16	transcript	ENST00000295956.9	protein_coding	8/45		INFO_REALIGN_3_PRIME	chr3	TogoVar
FLRT2_chr14_85525144_85659428	85631112	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG01168.hp2 HG01169.hp2 others(14): Show HG00735.hp2 HG01168.hp2 HG01169.hp2 HG02129.hp2 HG02135.hp1 HG02559.hp1 HG02698.hp2 HG03209.hp1 HG03471.hp2 HG03490.hp1 HG03540.hp2 NA18939.hp2 NA18962.hp2 NA19007.hp2 NA19030.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0040 a0001c0001t0050 a0001c0001t0051 others(13): Show a0001c0001t0040 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0110 a0001c0001t0233 a0001c0001t0275 a0001c0001t0276 a0001c0001t0277 a0001c0001t0310 a0001c0004t0112 a0002c0002t0006 a0002c0002t0124 a0002c0002t0140	a0001c0001t0040g0103 a0001c0001t0050g0206 a0001c0001t0051g0106 others(14): Show a0001c0001t0040g0103 a0001c0001t0050g0206 a0001c0001t0051g0106 a0001c0001t0052g0304 a0001c0001t0053g0146 a0001c0001t0054g0309 a0001c0001t0110g0184 a0001c0001t0233g0096 a0001c0001t0275g0290 a0001c0001t0276g0150 a0001c0001t0277g0147 a0001c0001t0310g0086 a0001c0004t0112g0007 a0002c0002t0006g0033 a0002c0002t0006g0034 a0002c0002t0124g0029 a0002c0002t0140g0271	17	338	0.0503	36	c.76 others(47): Show c.7632_*7633insATATATATATATATATATATATATATATATATAT AT	FLRT2	ENSG00000185070.12	transcript	ENST00000330753.6	protein_coding	2/2	7633	INFO_REALIGN_3_PRIME	chr14	TogoVar
FLRT2_chr14_85525144_85659428	85645186	A A	ATATATAT others(29): Show ATATATATGTATACATATGTATATATGTACACATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0212 a0001c0001t0078g0212	1	338	0.0030	36	c.21 others(49): Show c.21702_*21737dupCATATGTATATATGTACACATGTGTATATATG TATA	FLRT2	ENSG00000185070.12	transcript	ENST00000330753.6	protein_coding	2/2	21738	INFO_REALIGN_3_PRIME	chr14	TogoVar
FLRT3_chr20_14317985_14342612	14322175	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 NA18994.hp2 HG02922.hp1 NA18994.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0002 a0004c0005t0012 a0001c0002t0002 a0004c0005t0012	a0001c0002t0002g0005 a0004c0005t0012g0019 a0001c0002t0002g0005 a0004c0005t0012g0019	2	430	0.0047	36	c.33 others(47): Show c.3381_*3382insATATATATATATATATATATATATATATATATAT AT	FLRT3	ENSG00000125848.10	transcript	ENST00000341420.5	protein_coding		809		chr20	TogoVar
FLT1_chr13_28295346_28500128	28412330	T T	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	228	0.0044	36	c.143 others(55): Show c.1437-6437_1437-6436insGAAAAAGAAAGAAAGAAAGAAGAAAG AAAGAAAGAA	FLT1	ENSG00000102755.13	transcript	ENST00000282397.9	protein_coding	10/29			chr13	TogoVar
FLT1_chr13_28295346_28500128	28453012	C C	CCCCCTCC others(29): Show CCCCCTCCCCCTCCCCCTCCCTCTCCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0221 a0001c0006t0002g0221	1	228	0.0044	36	c.388 others(55): Show c.388+13890_388+13891insAGGGGGAGGGGGGAGAGGGAGGGGGA GGGGGAGGGG	FLT1	ENSG00000102755.13	transcript	ENST00000282397.9	protein_coding	3/29			chr13	TogoVar
FLT3_chr13_27998274_28105576	27999018	T T	TATATATA others(29): Show TATATATATGTATATACATATATATATATGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0019 a0019	a0019c0045 a0019c0045	a0019c0045t0001 a0019c0045t0001	a0019c0045t0001g0220 a0019c0045t0001g0220	1	292	0.0034	36	c.50 others(47): Show c.5033_*5034insGTATATACATATATATATATGTATATACATATAT AT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4255		chr13	TogoVar
FLT3_chr13_27998274_28105576	28011656	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18986.hp1 NA19002.hp1 HG03704.hp1 NA18986.hp1 NA19002.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0010 a0004c0006 a0001c0001 a0003c0010 a0004c0006	a0001c0001t0002 a0003c0010t0010 a0004c0006t0007 a0001c0001t0002 a0003c0010t0010 a0004c0006t0007	a0001c0001t0002g0071 a0003c0010t0010g0267 a0004c0006t0007g0002 a0001c0001t0002g0071 a0003c0010t0010g0267 a0004c0006t0007g0002	3	292	0.0103	36	c.285 others(55): Show c.2859+2795_2859+2796insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	23/23			chr13	TogoVar
FLT4_chr5_180596506_180654600	180634857	T T	TATGGGTG others(29): Show TATGGGTGGATGGGTGGGTGGATGGAAGTATGGGTGG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	388	0.0026	36	c.59- others(51): Show c.59-3080_59-3079insCCACCCATACTTCCATCCACCCACCCATCC ACCCAT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180634870	G G	GTGGATGG others(29): Show GTGGATGGGTGGATGGATGGATGGAAGTATGGGTGGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	388	0.0026	36	c.59- others(51): Show c.59-3093_59-3092insTCCACCCATACTTCCATCCATCCATCCACC CATCCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180634874	G G	GTGGGTGG others(29): Show GTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	388	0.0026	36	c.59- others(51): Show c.59-3097_59-3096insTCCACCCATACTTCCATCCATCCATGCATC CACCCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar

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Search Results (Total: 8848 hits)