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
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp2 HG01168.hp1 others(10): Show HG00621.hp1 HG00733.hp2 HG01168.hp1 HG01169.hp2 HG02145.hp1 HG02572.hp1 HG03239.hp2 HG03491.hp1 HG06807.hp2 NA19000.hp1 NA19009.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0014 a0001c0057 a0001c0087 others(9): Show a0001c0014 a0001c0057 a0001c0087 a0001c0105 a0001c0129 a0001c0149 a0001c0157 a0001c0164 a0001c0168 a0001c0171 a0001c0317 a0001c0320	a0001c0014t0003 a0001c0057t0002 a0001c0087t0001 others(9): Show a0001c0014t0003 a0001c0057t0002 a0001c0087t0001 a0001c0105t0014 a0001c0129t0003 a0001c0149t0002 a0001c0157t0001 a0001c0164t0021 a0001c0168t0015 a0001c0171t0083 a0001c0317t0008 a0001c0320t0001	a0001c0014t0003g0004 a0001c0057t0002g0228 a0001c0087t0001g0182 others(9): Show a0001c0014t0003g0004 a0001c0057t0002g0228 a0001c0087t0001g0182 a0001c0105t0014g0046 a0001c0129t0003g0212 a0001c0149t0002g0367 a0001c0157t0001g0088 a0001c0164t0021g0157 a0001c0168t0015g0313 a0001c0171t0083g0264 a0001c0317t0008g0211 a0001c0320t0001g0351	13	380	0.0342	34	c.600 others(53): Show c.600-11393_600-11392insTATATATATATATATATATATATATA TATATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHLD3_chr5_65620027_65635928	65632360	C C	CTGGGGGG others(27): Show CTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	406	0.0025	34	c.20 others(45): Show c.2020_*2021insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding		1433		chr5	TogoVar
SHOX2_chr3_158090905_158111420	158096911	T T	TATATATA others(27): Show TATATATATATATATATATATATGGCAAATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0068 a0001c0001t0065g0068	1	380	0.0026	34	c.11 others(45): Show c.1115_*1116insCATATATTTGCCATATATATATATATATATATAT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	5/5	1115		chr3	TogoVar
SHOX2_chr3_158090905_158111420	158096954	A A	ATATATAT others(27): Show ATATATATATGGCAAATATATGATATATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0160 a0001c0001t0100g0160	1	380	0.0026	34	c.10 others(45): Show c.1072_*1073insCATATATATATATCATATATTTGCCATATATATA	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	5/5	1072		chr3	TogoVar
SHOX_chrX_625791_656584	628105	G G	GTCCTCTG others(27): Show GTCCTCTGCCTCTCTTTGTCTCTGTGTCCCCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0199 a0001c0001t0199	a0001c0001t0199g0017 a0001c0001t0199g0017	1	220	0.0046	34	c.-27 others(45): Show c.-2793_-2792insTCCTCTGCCTCTCTTTGTCTCTGTGTCCCCTGTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2685		chrX	TogoVar
SHPK_chr17_3603240_3641250	3635236	A A	AGGAAGGA others(27): Show AGGAAGGAAGGAAGGAAGGGAGGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0356 a0001c0001t0006g0357 a0001c0001t0006g0358 a0001c0001t0006g0356 a0001c0001t0006g0357 a0001c0001t0006g0358	3	382	0.0079	34	c.168 others(49): Show c.168+815_168+816insCTTCCTTCCTTCCCTCCCTTCCTTCCTTCC TTCC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHQ1_chr3_72744277_72853445	72765530	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0206 a0002c0002t0008g0206	1	222	0.0045	34	c.118 others(55): Show c.1182-14695_1182-14694insATATATATATATATATATATATAT ATATATATAT	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72765557	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	222	0.0045	34	c.118 others(55): Show c.1182-14722_1182-14721insAAAAAAAAAATATATATATATATA TATATATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(27): Show AATAAATAAATAAATAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0026 a0026	a0026c0039 a0026c0039	a0026c0039t0002 a0026c0039t0002	a0026c0039t0002g0065 a0026c0039t0002g0065	1	218	0.0046	34	c.324 others(53): Show c.324-63928_324-63927insAATAAATAAATAAATATATATATATA TATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(27): Show AATAAATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0139 a0002c0002t0001g0139	1	218	0.0046	34	c.324 others(53): Show c.324-63928_324-63927insAATAAATATATATATATATATATATA TATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(27): Show AATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19002.hp2 HG01175.hp2 NA19002.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0021 a0003c0003t0001 a0001c0001t0021 a0003c0003t0001	a0001c0001t0021g0048 a0003c0003t0001g0129 a0001c0001t0021g0048 a0003c0003t0001g0129	2	218	0.0092	34	c.324 others(53): Show c.324-63928_324-63927insAATATATATATATATATATATATATA TATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76681594	G G	GGGGTGTG others(27): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0034 a0009c0011t0034	a0009c0011t0034g0144 a0009c0011t0034g0144	1	218	0.0046	34	c.324 others(53): Show c.324-28561_324-28560insGGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76681625	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02074.hp2 HG02717.hp1 others(6): Show HG01255.hp2 HG02074.hp2 HG02717.hp1 HG03209.hp1 HG03540.hp1 NA18950.hp2 NA19064.hp1 NA19066.hp1 NA19070.hp2	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0001 a0001c0019 a0002c0002 others(1): Show a0001c0001 a0001c0019 a0002c0002 a0018c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0019t0001 a0002c0002t0001 a0002c0002t0003 a0018c0026t0001	a0001c0001t0001g0174 a0001c0001t0002g0146 a0001c0001t0020g0067 others(6): Show a0001c0001t0001g0174 a0001c0001t0002g0146 a0001c0001t0020g0067 a0001c0019t0001g0030 a0002c0002t0001g0011 a0002c0002t0001g0164 a0002c0002t0003g0209 a0002c0002t0003g0212 a0018c0026t0001g0017	9	218	0.0413	34	c.324 others(53): Show c.324-28522_324-28521insGTGTGTGTGTGTGTGTGTGTATGTAT GTGTGTGT	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SIAH3_chr13_45772242_45856753	45843034	C C	CTCTCTGT others(27): Show CTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18950.hp1 NA18972.hp2 others(5): Show NA18747.hp1 NA18950.hp1 NA18972.hp2 NA18974.hp2 NA18980.hp1 NA18992.hp1 NA19063.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0090 others(5): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0090 a0001c0001t0002g0076 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0092 a0001c0001t0005g0091	8	364	0.0220	34	c.135 others(51): Show c.135+8460_135+8461insCACACACACACACACACACACACACACA CAGAGA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIGIRR_chr11_400716_419999	401209	A A	ACCCGCCC others(27): Show ACCCGCCCCCGCACACCCCCGGCCCGCTCACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	242	0.0041	34	c.46 others(45): Show c.4686_*4687insGGGGGTGAGCGGGCCGGGGGTGTGCGGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4506		chr11	TogoVar
SIGIRR_chr11_400716_419999	401240	A A	ACCCCCGC others(27): Show ACCCCCGCCCCGCTCACACCCCGGCCCCCGCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	242	0.0041	34	c.46 others(45): Show c.4655_*4656insGTGAGCGGGGGCCGGGGTGTGAGCGGGGCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4475		chr11	TogoVar
SIGIRR_chr11_400716_419999	401240	A A	ACCCGCCC others(27): Show ACCCGCCCCGCTCACCCCCCGGCCCCCGCTCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	242	0.0041	34	c.46 others(45): Show c.4655_*4656insGGGTGAGCGGGGGCCGGGGGGTGAGCGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4475		chr11	TogoVar
SIGIRR_chr11_400716_419999	403015	C C	CCCCGGGA others(27): Show CCCCGGGACCCCCGCTCACCCCCGCCCCACTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	242	0.0041	34	c.28 others(45): Show c.2880_*2881insTGTGAGTGGGGCGGGGGTGAGCGGGGGTCCCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2700		chr11	TogoVar
SIGLEC14_chr19_51634478_51651825	51645043	A A	AGAGACAG others(27): Show AGAGACAGAAAAAGTAGAATGGTGACTGCTCGGTG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0117 a0001c0001t0034g0117	1	300	0.0033	34	c.754 others(49): Show c.754+433_754+434insCACCGAGCAGTCACCATTCTACTTTTTCTG TCTC	SIGLEC14	ENSG00000254415.4	transcript	ENST00000360844.7	protein_coding	4/6			chr19	TogoVar
SIK3_chr11_116838402_117103428	116915124	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0133 a0001c0001t0004g0133	1	366	0.0027	34	c.616 others(53): Show c.616+12061_616+12094dupCACACACACACACACACACACACACA CACACACA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013901	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	366	0.0027	34	c.274 others(53): Show c.274-56838_274-56837insATACACACACACACACACACACACAC ACACACAC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013902	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	366	0.0027	34	c.274 others(53): Show c.274-56839_274-56838insTACACACACACACACACACACACACA CACACACA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013903	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0295 a0001c0002t0003g0295	1	366	0.0027	34	c.274 others(53): Show c.274-56840_274-56839insACACACACACACACACACACACACAC ACACACAC	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117013904	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0004 a0017c0022t0004	a0017c0022t0004g0125 a0017c0022t0004g0125	1	366	0.0027	34	c.274 others(53): Show c.274-56841_274-56840insTACACACACACACACACACACACACA CACACACA	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG02818.hp2 HG01074.hp2 HG01243.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0005 a0001c0001t0004 a0001c0002t0005	a0001c0001t0004g0124 a0001c0001t0004g0138 a0001c0002t0005g0025 a0001c0001t0004g0124 a0001c0001t0004g0138 a0001c0002t0005g0025	3	366	0.0082	34	c.274 others(53): Show c.274-63183_274-63182insGTGTATATATATATATATATATATAT ATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG03225.hp1 others(8): Show HG01891.hp1 HG02280.hp1 HG03225.hp1 HG03579.hp2 NA18948.hp2 NA18968.hp2 NA18973.hp1 NA18975.hp2 NA18989.hp2 NA18990.hp1 NA19064.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0001c0002 a0017c0022 a0001c0001 a0001c0002 a0017c0022	a0001c0001t0002 a0001c0001t0004 a0001c0002t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0005 a0017c0022t0004	a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0004g0121 others(8): Show a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0004g0121 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0002t0005g0023 a0001c0002t0005g0032 a0017c0022t0004g0125	11	366	0.0301	34	c.274 others(53): Show c.274-63183_274-63182insGTATATATATATATATATATATATAT ATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117023621	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0300 a0001c0002t0003g0300	1	366	0.0027	34	c.274 others(53): Show c.274-66558_274-66557insATATATATATATATATATATATATAT ATTTTTTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIL1_chr5_138941724_139203368	139155448	T T	TGAGAGAG others(27): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00642.hp1 others(3): Show HG00323.hp2 HG00423.hp2 HG00642.hp1 HG01261.hp1 HG02132.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0061 others(3): Show a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0089	6	200	0.0300	34	c.-10 others(53): Show c.-10-27596_-10-27595insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding	1/9			chr5	TogoVar
SIM2_chr21_36694115_36754917	36737961	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0120 a0001c0002t0047g0120	1	410	0.0024	34	c.851 others(51): Show c.851-3735_851-3734insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SIM2	ENSG00000159263.16	transcript	ENST00000290399.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SIMC1_chr5_176233424_176350989	176306185	C C	CCAGCCGC others(27): Show CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	360	0.0028	34	c.173 others(53): Show c.1735-7486_1735-7485insGAGGTGGGGGGGGTCAGCCGCCCCGT CCGGGAGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SINHCAF_chr12_31275584_31331150	31328401	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0301 a0001c0001t0004g0301	1	349	0.0029	34	c.-23 others(45): Show c.-2399_-2398insATATATATATATATATTTTTTTTTTTTTTTTTTT	SINHCAF	ENSG00000139146.14	transcript	ENST00000337682.9	protein_coding		2252		chr12	TogoVar
SIPA1L2_chr1_232392965_232635133	232528102	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02895.hp1 others(4): Show HG02257.hp1 HG02630.hp1 HG02895.hp1 HG03453.hp2 HG03491.hp1 NA18522.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0008 a0002c0012 others(1): Show a0001c0003 a0002c0008 a0002c0012 a0002c0023	a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 others(3): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0002c0008t0026 a0002c0012t0003 a0002c0023t0002	a0001c0003t0001g0172 a0001c0003t0001g0174 a0001c0003t0003g0268 others(4): Show a0001c0003t0001g0172 a0001c0003t0001g0174 a0001c0003t0003g0268 a0001c0003t0006g0011 a0002c0008t0026g0292 a0002c0012t0003g0284 a0002c0023t0002g0071	7	292	0.0240	34	c.-26 others(55): Show c.-269-12495_-269-12494insGATATATATATATATATATATATA TATATATATA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L2_chr1_232392965_232635133	232528102	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATCTATC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0290 a0001c0005t0003g0290	1	292	0.0034	34	c.-26 others(55): Show c.-269-12495_-269-12494insGATAGATATATATATATATATATA TATATATATA	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03490.hp1 HG06807.hp2 HG01258.hp2 HG03490.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0022 a0002c0002t0003 a0001c0001t0001 a0001c0001t0022 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0022g0008 a0002c0002t0003g0017 a0001c0001t0001g0001 a0001c0001t0022g0008 a0002c0002t0003g0017	3	164	0.0183	34	c.-37 others(55): Show c.-379+30406_-379+30407insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38073696	A A	AAGGAAGC others(27): Show AAGGAAGCCCTGGAGGGAAGAAACCAGGGGTCCCC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0120 a0001c0003t0007g0120	1	164	0.0061	34	c.-31 others(53): Show c.-310-7557_-310-7524dupGAAGCCCTGGAGGGAAGAAACCAGGG GTCCCCAG	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRPA_chr20_1890407_1945592	1944567	C C	CAGCCTCC others(27): Show CAGCCTCCTGCCAGTTTCTAAAATGAACCACAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0028 a0001c0001t0041g0028	1	418	0.0024	34	c.69 others(45): Show c.6999_*7000insAGCCTCCTGCCAGTTTCTAAAATGAACCACAGGA	SIRPA	ENSG00000198053.12	transcript	ENST00000358771.5	protein_coding		3976		chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650002	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01975.hp1 HG02602.hp2 others(1): Show HG00621.hp2 HG01975.hp1 HG02602.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0052 a0002c0002t0003g0122 a0002c0002t0003g0123 others(1): Show a0002c0002t0003g0052 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124	4	396	0.0101	34	c.74- others(47): Show c.74-595_74-594insTATATATATATATATATATATATATATATATA TA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650004	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0068 a0001c0004t0004g0068	1	396	0.0025	34	c.74- others(47): Show c.74-597_74-596insTATATATATATATATATATATATATATATATA TA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRT6_chr19_4169109_4187563	4172439	A A	AGACAGAC others(27): Show AGACAGACAGACAGACACAGCCTGAAACAGACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00544.hp1 others(26): Show HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00733.hp2 HG00738.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG02056.hp2 HG02074.hp1 HG02148.hp1 HG02735.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG04184.hp1 HG04204.hp2 NA18940.hp1 NA18957.hp1 NA18969.hp1 NA18978.hp1 NA18993.hp1 NA18999.hp2 NA19054.hp2 NA19067.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0001t0001 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0004g0054 a0001c0004t0001g0024	29	410	0.0707	34	c.21 others(45): Show c.2144_*2177dupCGGGTCTGTTTCAGGCTGTGTCTGTCTGTCTGTC	SIRT6	ENSG00000077463.15	transcript	ENST00000337491.7	protein_coding		1669		chr19	TogoVar
SIT1_chr9_35644295_35655931	35647667	T T	TGAGAGAG others(27): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18997.hp1 NA18979.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	434	0.0046	34	c.21 others(45): Show c.2180_*2181insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		1627		chr9	TogoVar
SI_chr3_164973898_165083496	165030072	T T	TATAACAG others(27): Show TATAACAGATGCATTTAGTTATTTGGTTATATTAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0003 a0005c0019t0003	a0005c0019t0003g0169 a0005c0019t0003g0169	1	266	0.0038	34	c.289 others(51): Show c.2892+606_2892+639dupTTAATATAACCAAATAACTAAATGCATC TGTTAT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	25/47			chr3	TogoVar
SI_chr3_164973898_165083496	165065464	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03710.hp2 NA18975.hp1 others(2): Show HG00741.hp1 HG03710.hp2 NA18975.hp1 NA18978.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0021 a0001c0001 a0001c0010 a0001c0021	a0001c0001t0001 a0001c0010t0001 a0001c0021t0001 a0001c0001t0001 a0001c0010t0001 a0001c0021t0001	a0001c0001t0001g0034 a0001c0001t0001g0124 a0001c0001t0001g0148 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0124 a0001c0001t0001g0148 a0001c0010t0001g0103 a0001c0021t0001g0102	5	266	0.0188	34	c.636 others(47): Show c.636-33_636-32insATATATATATATATATATATATATATATATAT AT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	6/47			chr3	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0221 a0002c0004t0001g0221	1	292	0.0034	34	c.46+ others(51): Show c.46+16551_46+16552insATATATATTTTTTTTTTTTTTTTTTTTT TTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01993.hp1 HG02040.hp2 others(6): Show HG01943.hp2 HG01993.hp1 HG02040.hp2 HG03492.hp2 NA18945.hp1 NA19005.hp2 NA19088.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0093 others(6): Show a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0265 a0001c0001t0001g0321 a0001c0001t0002g0072 a0001c0001t0002g0331 a0001c0001t0003g0014 a0001c0001t0005g0017	9	360	0.0250	34	c.46 others(45): Show c.4676_*4709dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(27): Show TACATACATACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01167.hp1 HG00544.hp2 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0261 a0001c0001t0001g0236 a0001c0001t0001g0261	2	360	0.0056	34	c.47 others(45): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(27): Show TACATACATACACATACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	360	0.0028	34	c.47 others(45): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTATGTGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(27): Show TACATACATACATACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	360	0.0028	34	c.47 others(45): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(27): Show TACATACATACATATACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG02071.hp2 HG02132.hp1 others(7): Show HG00738.hp1 HG02071.hp2 HG02132.hp1 HG02723.hp1 HG03195.hp1 HG03209.hp2 HG03710.hp2 HG04184.hp2 NA19010.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0230 others(7): Show a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0230 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0292 a0001c0001t0001g0312 a0001c0001t0001g0327 a0001c0001t0012g0066	10	360	0.0278	34	c.47 others(45): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTATATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36636623	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	360	0.0028	34	c.92- others(49): Show c.92-2035_92-2034insATATATATATATATATATATATATATATAT ATTT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding	2/7			chr20	TogoVar
SLC10A6_chr4_86818468_86854384	86837312	A A	AGGGAGGG others(27): Show AGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0029 a0008c0009t0001g0029	1	350	0.0029	34	c.378 others(51): Show c.378-3889_378-3888insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar

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Search Results (Total: 7994 hits)