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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GLG1_chr16_74442440_74612114	74542756	A A	AGGAAGGA others(34): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp2 HG03453.hp2 others(3): Show HG02258.hp2 HG03098.hp2 HG03453.hp2 NA19055.hp2 NA19064.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0021 a0001c0002t0003 a0001c0002t0004 a0001c0002t0021	a0001c0002t0003g0006 a0001c0002t0003g0031 a0001c0002t0003g0044 others(3): Show a0001c0002t0003g0006 a0001c0002t0003g0031 a0001c0002t0003g0044 a0001c0002t0004g0029 a0001c0002t0021g0032 a0001c0002t0021g0052	6	342	0.0175	41	c.439 others(60): Show c.439-10644_439-10604dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCC		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74542760	A A	AGGAAGGA others(34): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0058 a0001c0002t0003g0058	1	342	0.0029	41	c.439 others(60): Show c.439-10648_439-10608dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCC		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74542762	G G	GAAGGAAG others(34): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG04115.hp2 HG02300.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0010 a0001c0003t0003 a0001c0003t0010	a0001c0003t0003g0063 a0001c0003t0010g0078 a0001c0003t0003g0063 a0001c0003t0010g0078	2	342	0.0059	41	c.439 others(60): Show c.439-10650_439-10610dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74542766	G G	GAAGGAAG others(34): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0327 a0001c0003t0003g0327	1	342	0.0029	41	c.439 others(60): Show c.439-10654_439-10614dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLP2R_chr17_9820924_9897099	9879337	A A	ATAAAATA others(34): Show ATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02027.hp2 HG02165.hp2 others(2): Show HG01243.hp1 HG02027.hp2 HG02165.hp2 HG03017.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0132 a0001c0001t0001g0295 a0001c0001t0001g0305 others(2): Show a0001c0001t0001g0132 a0001c0001t0001g0295 a0001c0001t0001g0305 a0001c0001t0002g0068 a0001c0001t0002g0265	5	380	0.0132	41	c.114 others(60): Show c.1146-1041_1146-1040insTAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAAT		GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12						chr17	TogoVar
GLRA1_chr5_151817513_151929851	151849456	C C	CTTTCCTT others(34): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	284	0.0035	41	c.912 others(58): Show c.912+1933_912+1934insAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAA		GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8						chr5	TogoVar
GLRA3_chr4_174631920_174834247	174789887	C C	CTCAGGAC others(34): Show CTCAGGACATTGCCAAATCAAACCATTTGGGTCACCACATGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0185 a0001c0001t0078g0185	1	296	0.0034	41	c.72- others(54): Show c.72-985_72-945dupTCATGTGGTGACCCAAATGGTTTGATTTGGCA ATGTCCTGA		GLRA3	ENSG00000145451.13	transcript	ENST00000274093.8	protein_coding	1/9						chr4	TogoVar
GMDS_chr6_1618806_2250605	2052116	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	166	0.0060	41	c.345 others(60): Show c.345+63654_345+63655insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10						chr6	TogoVar
GNB5_chr15_52110100_52196392	52117103	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATTTATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0130 a0001c0002t0130	a0001c0002t0130g0274 a0001c0002t0130g0274	1	366	0.0027	41	c.56 others(52): Show c.5653_*5654insTATATAAATATATATATATATATATATATATATA TATATAT		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5653		chr15	TogoVar
GNG2_chr14_51855612_51974795	51942589	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	380	0.0026	41	c.-29 others(58): Show c.-29-8058_-29-8057insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTT		GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr14	TogoVar
GNG2_chr14_51855612_51974795	51942592	T T	TCTTTCTT others(34): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	380	0.0026	41	c.-29 others(58): Show c.-29-8058_-29-8057insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTC		GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3						chr14	TogoVar
GNG7_chr19_2506219_2707694	2602897	T T	TTTTCTTT others(34): Show TTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0012 a0001c0001t0035g0012	1	206	0.0049	41	c.-78 others(60): Show c.-78+43326_-78+43327insGAAAGAAAGAAAGAAAGAAAGAAAAG AAAGAAAGAAAGAAA		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2639777	G G	GAAGGAGG others(34): Show GAAGGAGGGGGAAAGGGGGAAGAAGGGAGGGAAGGAGAGGGT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0183 a0001c0001t0059g0183	1	206	0.0049	41	c.-78 others(58): Show c.-78+6446_-78+6447insACCCTCTCCTTCCCTCCCTTCTTCCCCC TTTCCCCCTCCTT		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4						chr19	TogoVar
GOLGA6L1_chr15_23122066_23141822	23130375	C C	CCCACATC others(34): Show CCCACATCATCTCCTCCTGCCTCCGCATCTTCTCCTCCTTCT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18612.hp2 NA18612.hp2	a0035 a0035	a0035c0072 a0035c0072	a0035c0072t0016 a0035c0072t0016	a0035c0072t0016g0031 a0035c0072t0016g0031	1	204	0.0049	41	c.103 others(50): Show c.1037_1077dupAGAAGGAGGAGAAGATGCGGAGGCAGGAGGAGATGA TGTGG	p.Glu others(5): Show p.Glu360fs	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1168/3822	1077/2007	359/668			chr15	TogoVar
GOLM2_chr15_44283719_44420758	44288493	C C	CGAGAGAG others(34): Show CGAGAGAGAACCCGGAGACAGACAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0114 a0001c0002t0003g0114	1	150	0.0067	41	c.-53 others(50): Show c.-537_-536insGAGAGAGAACCCGGAGACAGACAGAGAGAGAGAGAG AGAGA		GOLM2	ENSG00000166734.20	transcript	ENST00000299957.11	protein_coding					225		chr15	TogoVar
GPATCH2_chr1_217421992_217636090	217514516	G G	GTACGAAA others(34): Show GTACGAAAGCTTGATGCTACTCAATGTAATGAAAATTTTAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	188	0.0053	41	c.116 others(58): Show c.1166+265_1166+305dupTTTAAAATTTTCATTACATTGAGTAGCA TCAAGCTTTCGTA		GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	6/9						chr1	TogoVar
GPATCH8_chr17_44390281_44508406	44444363	A A	ATCAATTT others(34): Show ATCAATTTGTTTTTTTCAAATGGGAAAGCCAAATTAATAAAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0253 a0001c0002t0001g0253	1	326	0.0031	41	c.194 others(58): Show c.194-7819_194-7818insATTTATTAATTTGGCTTTCCCATTTGAA AAAAACAAATTGA		GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	3/7						chr17	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	326	0.0031	41	c.46- others(56): Show c.46-8274_46-8273insATATATATATATATATATATATATATATAT TTTTTTTTTTT		GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7						chr17	TogoVar
GPC5_chr13_91393621_92872237	91674646	T T	TATATACG others(34): Show TATATACGCATATATATGCGTATGTGTATATATACGCATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG03486.hp2 others(1): Show HG02145.hp1 HG02258.hp2 HG03486.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0002g0036 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0002g0036 a0001c0001t0002g0042	4	42	0.0952	41	c.326 others(60): Show c.326-18541_326-18540insATATACGCATATATATGCGTATGTGT ATATATACGCATATA		GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7						chr13	TogoVar
GPR139_chr16_20023239_20078890	20041251	G G	GAGAGGAG others(34): Show GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	364	0.0028	41	c.128 others(58): Show c.128-8583_128-8582insTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCT		GPR139	ENSG00000180269.8	transcript	ENST00000570682.2	protein_coding	1/1						chr16	TogoVar
GPR157_chr1_9095305_9134102	9123559	A A	ATTTAAAT others(34): Show ATTTAAATATATCTAATTTAAATATATATTTAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0189 a0001c0001t0061g0189	1	404	0.0025	41	c.383 others(58): Show c.383+5085_383+5086insATATATATTTTAAATATATATTTAAATT AGATATATTTAAA		GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3						chr1	TogoVar
GPR158_chr10_25170001_25607229	25241262	T T	TCTTTCCT others(34): Show TCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0076 a0006c0006t0002g0076	1	162	0.0062	41	c.100 others(62): Show c.1008+20110_1008+20111insCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTC		GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
GPR171_chr3_151192832_151208216	151206787	G G	GTTCAACG others(34): Show GTTCAACGCAGACTCTCAGAAGCTGAGACATAACGGCACAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	450	0.0022	41	c.-38 others(52): Show c.-3827_-3826insACTGTGCCGTTATGTCTCAGCTTCTGAGAGTCTG CGTTGAA		GPR171	ENSG00000174946.7	transcript	ENST00000309180.6	protein_coding					3572		chr3	TogoVar
GPR173_chrX_53043789_53085615	53061991	A A	AGGGAAGA others(34): Show AGGGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03130.hp1 HG03225.hp1 others(1): Show HG00099.hp2 HG03130.hp1 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0003t0002 a0001c0003t0062 a0001c0001t0017 a0001c0003t0002 a0001c0003t0062	a0001c0001t0017g0189 a0001c0001t0017g0197 a0001c0003t0002g0029 others(1): Show a0001c0001t0017g0189 a0001c0001t0017g0197 a0001c0003t0002g0029 a0001c0003t0062g0042	4	208	0.0192	41	c.-98 others(60): Show c.-98+12507_-98+12508insGGGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAG		GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1						chrX	TogoVar
GPR4_chr19_45584764_45607212	45594076	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0186 a0001c0001t0009g0186	1	450	0.0022	41	c.-83 others(60): Show c.-831-1380_-831-1379insAAATATATATATATATATATATATAT ATATATATATATATA		GPR4	ENSG00000177464.5	transcript	ENST00000323040.5	protein_coding	1/1						chr19	TogoVar
GPR4_chr19_45584764_45607212	45594078	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01891.hp1 HG02622.hp2 others(2): Show HG01261.hp1 HG01891.hp1 HG02622.hp2 HG02886.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0009t0007	a0001c0001t0002g0191 a0001c0001t0006g0214 a0001c0001t0006g0215 others(2): Show a0001c0001t0002g0191 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0010g0147 a0001c0009t0007g0053	5	450	0.0111	41	c.-83 others(60): Show c.-831-1382_-831-1381insAAATATATATATATATATATATATAT ATATATATATATATA		GPR4	ENSG00000177464.5	transcript	ENST00000323040.5	protein_coding	1/1						chr19	TogoVar
GPRC5C_chr17_74427088_74452429	74449122	A A	AGGGAGAG others(34): Show AGGGAGAGAAAGGTTGCTGGGAAAAAAAAAATAAACTTGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02896.hp1 others(2): Show HG02109.hp2 HG02258.hp1 HG02896.hp1 HG02897.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0096 a0001c0001t0002g0036 a0001c0001t0002g0219 others(1): Show a0001c0001t0001g0096 a0001c0001t0002g0036 a0001c0001t0002g0219 a0001c0001t0002g0220	5	338	0.0148	41	c.20 others(52): Show c.2094_*2095insGGGAGAGAAAGGTTGCTGGGAAAAAAAAAATAAA CTTGAAG		GPRC5C	ENSG00000170412.18	transcript	ENST00000392627.7	protein_coding					1694		chr17	TogoVar
GPSM1_chr9_136322539_136364601	136355276	G G	GGGTGACA others(34): Show GGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0132 a0002c0002t0017g0132	1	400	0.0025	41	c.145 others(58): Show c.1456-411_1456-371dupTGACACGTCCTGGGGGAGGGGTAGCCGG GTGCCGAGGGTGG		GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
GPSM1_chr9_136322539_136364601	136355294	G G	GAGGGGTA others(34): Show GAGGGGTAGCCGGGTGCCGAGGGTGGTGACACGTCCTGGGGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0253 a0001c0001t0027g0253	1	400	0.0025	41	c.145 others(58): Show c.1456-371_1456-370insTGACACGTCCTGGGGTAGGGGTAGCCGG GTGCCGAGGGTGG		GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
GPSM1_chr9_136322539_136364601	136355378	G G	GAGGGGTA others(34): Show GAGGGGTAGCCGGGTGCCGAGGGTGGTGACACGTCCTGGGGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02572.hp1 HG02922.hp1 others(4): Show HG01261.hp1 HG02572.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03516.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0001c0006 a0002c0004	a0001c0006t0001 a0002c0004t0001 a0001c0006t0001 a0002c0004t0001	a0001c0006t0001g0086 a0002c0004t0001g0031 a0002c0004t0001g0340 others(3): Show a0001c0006t0001g0086 a0002c0004t0001g0031 a0002c0004t0001g0340 a0002c0004t0001g0341 a0002c0004t0001g0342 a0002c0004t0001g0343	7	400	0.0175	41	c.145 others(58): Show c.1456-287_1456-286insTGACACGTCCTGGGGTAGGGGTAGCCGG GTGCCGAGGGTGG		GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
GPSM1_chr9_136322539_136364601	136355402	G G	GGGTGACA others(34): Show GGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0132 a0002c0002t0017g0132	1	400	0.0025	41	c.145 others(58): Show c.1456-285_1456-245dupTGACACGTCCTGGGGGAGGGGTAGCCGG GTGCCGAGGGTGG		GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
GPX5_chr6_28520881_28539955	28522303	G G	GTATGTAT others(34): Show GTATGTATAATTTGTCTTCTTTCTTTATTAGTATATCTACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	411	0.0024	41	c.-37 others(52): Show c.-3711_-3710insTATGTATAATTTGTCTTCTTTCTTTATTAGTATA TCTACTA		GPX5	ENSG00000224586.7	transcript	ENST00000412168.7	protein_coding					3577		chr6	TogoVar
GRAMD1C_chr3_113833788_113952174	113894337	G G	GGCATGAT others(34): Show GGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTAGGTTCA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	324	0.0031	41	c.541 others(58): Show c.541-6693_541-6653dupGCATGATCTCGGCTCACTGCAACCTCCG CCTCCTAGGTTCA		GRAMD1C	ENSG00000178075.20	transcript	ENST00000358160.9	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
GRAMD1C_chr3_113833788_113952174	113911696	T T	TTTCCTTC others(34): Show TTTCCTTCCTTCCTTCCTTCTTTCCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0023 a0005c0008t0023	a0005c0008t0023g0131 a0005c0008t0023g0131	1	324	0.0031	41	c.952 others(58): Show c.952+2595_952+2596insTTTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTC		GRAMD1C	ENSG00000178075.20	transcript	ENST00000358160.9	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
GRAMD1C_chr3_113833788_113952174	113911696	T T	TTTCCTTC others(34): Show TTTCCTTCCTTCCTTCCTTCTTTCTCTTCCTTACTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0224 a0011c0015t0001g0224	1	324	0.0031	41	c.952 others(58): Show c.952+2595_952+2596insTTTCTCTTCCTTACTTCCTTCCTTCCTT CCTTCCTTCCTTC		GRAMD1C	ENSG00000178075.20	transcript	ENST00000358160.9	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
GRAMD1C_chr3_113833788_113952174	113911696	T T	TTTCCTTC others(34): Show TTTCCTTCCTTCCTTCCTTCTTTCTCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG00639.hp2 others(11): Show HG00558.hp1 HG00639.hp1 HG00639.hp2 HG01168.hp1 HG02040.hp1 HG02258.hp2 HG02922.hp1 HG02976.hp2 HG03471.hp2 NA18612.hp1 NA18968.hp1 NA19060.hp2 NA19079.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0030 a0001c0002t0001 a0001c0002t0003 a0001c0003t0007	a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0001g0181 others(11): Show a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0001g0181 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0268 a0001c0001t0003g0126 a0001c0001t0013g0245 a0001c0001t0014g0143 a0001c0001t0030g0155 a0001c0002t0001g0023 a0001c0002t0001g0052 a0001c0002t0003g0053 a0001c0003t0007g0237	14	324	0.0432	41	c.952 others(58): Show c.952+2595_952+2596insTTTCTCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTC		GRAMD1C	ENSG00000178075.20	transcript	ENST00000358160.9	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
GRIA2_chr4_157215728_157371075	157256160	T T	TATATATG others(34): Show TATATATGTTATATATTATATATAATATATAACATATATTAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02055.hp2 HG00609.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0093 a0001c0001t0003g0094	2	216	0.0093	41	c.229 others(60): Show c.229+34360_229+34400dupGTTATATATTATATATAATATATAAC ATATATTACATATAT		GRIA2	ENSG00000120251.22	transcript	ENST00000264426.14	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
GRIA3_chrX_123179278_123495915	123260487	A A	AGGAAGGA others(34): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19086.hp1 HG03831.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0174 a0001c0002t0010g0103 a0001c0002t0001g0174 a0001c0002t0010g0103	2	207	0.0097	41	c.508 others(58): Show c.508+6946_508+6947insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGG		GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	3/15					INFO_REALIGN_3_PRIME	chrX	TogoVar
GRID1_chr10_85594552_86371795	85599802	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0049 a0001c0004t0049	a0001c0004t0049g0082 a0001c0004t0049g0082	1	96	0.0104	41	c.24 others(52): Show c.2470_*2471insATATATATATATATATATATATATATATATATAT ATTTTTT		GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	16/16				2470		chr10	TogoVar
GRID1_chr10_85594552_86371795	85599802	A A	AAATATAT others(34): Show AAATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0022 a0002c0005t0022	a0002c0005t0022g0078 a0002c0005t0022g0078	1	96	0.0104	41	c.24 others(52): Show c.2470_*2471insATATATATATATATATATATATATATATATATAT ATATATT		GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	16/16				2470		chr10	TogoVar
GRID2_chr4_92298966_93779566	93724480	A A	AAATATGC others(34): Show AAATATGCAGCTAACTCGTGGAATATACTATTAGGAAGTCAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	34	0.0294	41	c.236 others(62): Show c.2361-44727_2361-44687dupTATGCAGCTAACTCGTGGAATATA CTATTAGGAAGTCATAA		GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
GRIK1_chr21_29531933_29944996	29848779	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	162	0.0062	41	c.118 others(60): Show c.118+90603_118+90604insAAAAAAAAAAATATATATATATATAT ATATATATATATATA		GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17						chr21	TogoVar
GRIK1_chr21_29531933_29944996	29888161	T T	TCTTTCTT others(34): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0039	1	162	0.0062	41	c.118 others(60): Show c.118+51221_118+51222insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAG		GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17						chr21	TogoVar
GRIN2B_chr12_13532337_13986602	13607376	A A	AAATATAT others(34): Show AAATATATATTATATATAATATATAAAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0048 a0001c0007t0048	a0001c0007t0048g0038 a0001c0007t0048g0038	1	194	0.0052	41	c.201 others(60): Show c.2010+1226_2010+1227insATATATATTATATATTTTATATATTA TATATAATATATATT		GRIN2B	ENSG00000273079.7	transcript	ENST00000609686.4	protein_coding	10/13						chr12	TogoVar
GRM3_chr7_86638909_86869879	86864081	A A	ATAGATGG others(34): Show ATAGATGGTATTTGGGGAATAGATGGTTTTTGGGGAATAGAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp1 NA18522.hp1 HG02965.hp1 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0006g0156 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0006g0156	3	216	0.0139	41	c.256 others(58): Show c.2567-201_2567-200insTAGATGGTATTTGGGGAATAGATGGTTT TTGGGGAATAGAT		GRM3	ENSG00000198822.11	transcript	ENST00000361669.7	protein_coding	5/5						chr7	TogoVar
GRSF1_chr4_70810783_70844890	70840065	C C	CTGCCCAT others(34): Show CTGCCCATGGTTTGGGCGGGGCTGCCCATGGTTTGGGCGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	328	0.0031	41	c.-23 others(50): Show c.-239_-238insTCCCGCCCAAACCATGGGCAGCCCCGCCCAAACCAT GGGCA		GRSF1	ENSG00000132463.15	transcript	ENST00000254799.11	protein_coding					176		chr4	TogoVar
GSK3B_chr3_119816321_120099447	120083021	T T	TCACTTAA others(34): Show TCACTTAATAAATGATACACTTAATAAATCACTTAATAAATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02630.hp2 HG01175.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0037 a0001c0001t0014 a0001c0001t0037	a0001c0001t0014g0027 a0001c0001t0037g0026 a0001c0001t0014g0027 a0001c0001t0037g0026	2	300	0.0067	41	c.88+ others(58): Show c.88+10325_88+10326insTATTTATTAAGTGATTTATTAAGTGTAT CATTTATTAAGTG		GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	1/10						chr3	TogoVar
GTDC1_chr2_143933068_144337512	144136395	A A	AAAAGGAA others(34): Show AAAAGGAAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA20805.hp2 HG00140.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0113 a0001c0001t0002g0033 a0001c0001t0002g0113	2	124	0.0161	41	c.521 others(58): Show c.521+5486_521+5487insCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTTCCTTT		GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11						chr2	TogoVar
GTF2I_chr7_74652718_74765692	74680099	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	174	0.0058	41	c.-5- others(56): Show c.-5-9024_-5-9023insAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATA		GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding	1/34					INFO_REALIGN_3_PRIME	chr7	TogoVar
GTPBP10_chr7_90341716_90396453	90391692	A A	AACCCCCC others(34): Show AACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0002 a0001c0001t0059g0002	1	390	0.0026	41	c.65 others(52): Show c.6538_*6539insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCC		GTPBP10	ENSG00000105793.16	transcript	ENST00000222511.11	protein_coding					240		chr7	TogoVar

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Search Results (Total: 2600 hits)