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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC10A6_chr4_86818468_86854384	86842863	T T	TTTCTTTC others(100): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	350	0.0029	107	c.377 others(124): Show c.377+5875_377+5876insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC17A7_chr19_49424401_49446527	49429079	C C	CCCTGGGT others(100): Show CCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCTGGTCTGAGGG AGGAGGGGCGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCGGGGG TCTGGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02572.hp1 others(6): Show HG01109.hp2 HG01891.hp1 HG02572.hp1 HG02622.hp2 HG02896.hp1 HG02897.hp2 HG06807.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0072 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0072 a0001c0001t0001g0137 a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0001t0010g0128	9	414	0.0217	107	c.14 others(118): Show c.1439_*1440insAGTCCAGACCCCCGCCCCTCCTCCCTCAGACCCA GGAGTCCAGACCCCCGCCCCTCCTCCCTCAGACCAGGAGTCCAGGCCCCA GCCCCTCCTCCCTCAGACCCAGG	SLC17A7	ENSG00000104888.10	transcript	ENST00000221485.8	protein_coding		321		chr19	TogoVar
SLC28A1_chr15_84879662_84950798	84928603	T T	TCTCTTTC others(100): Show TCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0235 a0003c0005t0002g0235	1	396	0.0025	107	c.108 others(126): Show c.1083+4493_1083+4494insCTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18			chr15	TogoVar
SLC37A1_chr21_42508852_42586426	42570282	T T	TTGCCATG others(100): Show TTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCT GTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGC CATTGCCA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	356	0.0028	107	c.142 others(126): Show c.1423+1846_1423+1847insCCATGTGACACACGGCCTGGTTCTGA GAAGCGGCGGGCAGGGTGGCTGTTGCCATGTGACACACGGCCTGGTTCTG AGAAGCGGCGGGCAGGGTGGCCATTGCCATG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570331	T T	TGTTGCCA others(100): Show TGTTGCCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGG CCGTTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGTGGGCA GCGTGGCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03579.hp1 HG02559.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0019 a0001c0003t0015g0019	2	356	0.0056	107	c.142 others(126): Show c.1423+1898_1423+1899insCATGTGACACACGGCCTGGTTCTGAG AAGCGGCGGGCAGGGTGGCCGTTGCCATGTCATGTGACACACGGCCTGGT TCTGAGAAGCGGTGGGCAGCGTGGCCGTTGC	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570331	T T	TGTTGCCA others(100): Show TGTTGCCATGTGACACATGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGG CCATTGCCATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCA GCGTGGCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0078 a0001c0001t0014g0078	1	356	0.0028	107	c.142 others(126): Show c.1423+1898_1423+1899insCATGTGACACATGGCCTGGTTCTGAG AAGCGGCGGGCAGGGTGGCCATTGCCATGTCATGTGACACACGGCCTGGT TCTGAGAAGCGGCGGGCAGCGTGGCCGTTGC	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC38A9_chr5_55620848_55717324	55696657	G G	GGCTGACC others(100): Show GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGG GCTGACCCCCCCCACATCCCTCCCGGACGGGGTGGCTGCCGGGTGGGGGG CTGACCCC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02922.hp1 HG03041.hp1 others(3): Show HG01517.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03579.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 others(3): Show a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0346	6	350	0.0171	107	c.113 others(124): Show c.113+1188_113+1189insGGGGTCAGCCCCCCACCCGGCAGCCACC CCGTCCGGGAGGGATGTGGGGGGGGTCAGCCCCCCACCCGGCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(100): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAG AAAGAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	370	0.0027	107	c.274 others(124): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTCTTTCTCTTTCTTTCTTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC45A4_chr8_141202174_141313288	141203284	A A	AGAGGAGA others(100): Show AGAGGAGAGAGGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGA GAAGAGAGAGGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG GGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0174 a0002c0001t0003g0174	1	188	0.0053	107	c.82 others(118): Show c.8287_*8288insCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCCACGGTCCTCTCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCCA CGGTCTCTCTCTCCTCTCTCCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3889		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203522	G G	GAGGGAGA others(100): Show GAGGGAGAGAGGGAGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0093 a0002c0001t0013g0093	1	188	0.0053	107	c.80 others(118): Show c.8049_*8050insTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCC TCTCCCTCTCTCCCTCTCTCCCT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3651		chr8	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTC others(100): Show ATTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	410	0.0024	107	c.152 others(124): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(100): Show ATTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG04228.hp2 HG00597.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0220 a0001c0001t0003g0201 a0001c0001t0002g0220 a0001c0001t0003g0201	2	410	0.0049	107	c.152 others(124): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(100): Show ATTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	410	0.0024	107	c.152 others(124): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(100): Show ATTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	410	0.0024	107	c.152 others(124): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(100): Show ATTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	410	0.0024	107	c.152 others(124): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAAGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(100): Show ATTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	410	0.0024	107	c.152 others(124): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(100): Show ATTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	410	0.0024	107	c.152 others(124): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(100): Show ATTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	410	0.0024	107	c.152 others(124): Show c.152-2689_152-2688insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218670	T T	TTTTCTTT others(100): Show TTTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCCTTCT TTCTTTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	410	0.0024	107	c.152 others(124): Show c.152-2698_152-2697insGGAAAGAAAGAAGGAAAGAAAGAAGAAA GAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAGAGAGAGAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLCO1A2_chr12_21259600_21339917	21311805	G G	GATCCCAG others(100): Show GATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGA GGCAACGGTTGCAGTGAGCTGAGATCATGCTAGCCCGGCGTGGTGGTAGA CGCCCGTA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp1 HG02145.hp1 others(5): Show HG00735.hp1 HG01891.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0031 a0001c0001t0033 others(1): Show a0001c0001t0005 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034	a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 others(5): Show a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0119 a0001c0001t0031g0118 a0001c0001t0033g0117 a0001c0001t0034g0121	8	310	0.0258	107	c.335 others(124): Show c.335+2743_335+2744insTACGGGCGTCTACCACCACGCCGGGCTA GCATGATCTCAGCTCACTGCAACCGTTGCCTCCTGGGTTCAAGTGATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGAT	SLCO1A2	ENSG00000084453.17	transcript	ENST00000683939.1	protein_coding	4/14			chr12	TogoVar
SLCO1A2_chr12_21259600_21339917	21311805	G G	GATCCCAG others(100): Show GATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGA GGCAACGGTTGCAGTGAGCTGAGATCATGCTAGCCGGGCGTGGTGGTAGA CGCCCATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00597.hp2 others(87): Show HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG00741.hp2 HG01069.hp2 HG01168.hp1 HG01169.hp2 HG01943.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18966.hp1 NA18970.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19072.hp2 NA19075.hp2 NA19078.hp2 NA19081.hp1 NA19089.hp1 NA20300.hp2 NA21309.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0007c0012 a0008c0014	a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 others(10): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0001t0023 a0001c0001t0029 a0001c0001t0036 a0001c0002t0003 a0001c0002t0005 a0001c0005t0008 a0001c0008t0027 a0001c0008t0028 a0007c0012t0002 a0008c0014t0024	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 others(78): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0136 a0001c0001t0010g0053 a0001c0001t0010g0054 a0001c0001t0010g0122 a0001c0001t0015g0146 a0001c0001t0023g0068 a0001c0001t0029g0081 a0001c0001t0036g0094 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0005g0010 a0001c0005t0008g0138 a0001c0005t0008g0139 a0001c0005t0008g0140 a0001c0005t0008g0141 a0001c0005t0008g0142 a0001c0005t0008g0143 a0001c0008t0027g0145 a0001c0008t0028g0144 a0007c0012t0002g0135 a0008c0014t0024g0137	90	310	0.2903	107	c.335 others(124): Show c.335+2743_335+2744insTATGGGCGTCTACCACCACGCCCGGCTA GCATGATCTCAGCTCACTGCAACCGTTGCCTCCTGGGTTCAAGTGATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGAT	SLCO1A2	ENSG00000084453.17	transcript	ENST00000683939.1	protein_coding	4/14			chr12	TogoVar
SLCO1A2_chr12_21259600_21339917	21311805	G G	GATCCCAG others(100): Show GATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGA GGCAACGGTTGCAGTGAGCTGAGATCATGCTAGCCGGGCGTGGTGGTAGA CGCCCGTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00642.hp2 others(49): Show HG00140.hp1 HG00280.hp1 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 NA18906.hp1 NA19030.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(2): Show a0001c0001 a0001c0004 a0002c0003 a0003c0006 a0003c0010	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 others(18): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0038 a0001c0004t0020 a0001c0004t0039 a0002c0003t0006 a0002c0003t0016 a0002c0003t0037 a0003c0006t0013 a0003c0010t0040	a0001c0001t0004g0006 a0001c0001t0004g0035 a0001c0001t0004g0036 others(46): Show a0001c0001t0004g0006 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0007g0013 a0001c0001t0007g0124 a0001c0001t0007g0128 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0011g0123 a0001c0001t0011g0132 a0001c0001t0011g0133 a0001c0001t0012g0043 a0001c0001t0012g0044 a0001c0001t0012g0045 a0001c0001t0014g0005 a0001c0001t0015g0042 a0001c0001t0017g0126 a0001c0001t0017g0127 a0001c0001t0019g0244 a0001c0001t0019g0245 a0001c0001t0025g0040 a0001c0001t0026g0041 a0001c0001t0030g0147 a0001c0001t0032g0131 a0001c0001t0035g0134 a0001c0001t0038g0125 a0001c0004t0020g0276 a0001c0004t0020g0277 a0001c0004t0039g0278 a0002c0003t0006g0028 a0002c0003t0006g0029 a0002c0003t0006g0030 a0002c0003t0006g0031 a0002c0003t0006g0032 a0002c0003t0006g0033 a0002c0003t0006g0034 a0002c0003t0016g0025 a0002c0003t0016g0026 a0002c0003t0037g0027 a0003c0006t0013g0049 a0003c0006t0013g0050 a0003c0006t0013g0051 a0003c0010t0040g0275	52	310	0.1677	107	c.335 others(124): Show c.335+2743_335+2744insTACGGGCGTCTACCACCACGCCCGGCTA GCATGATCTCAGCTCACTGCAACCGTTGCCTCCTGGGTTCAAGTGATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGAT	SLCO1A2	ENSG00000084453.17	transcript	ENST00000683939.1	protein_coding	4/14			chr12	TogoVar
SMOC2_chr6_168436184_168672992	168668970	C C	CGTCCCCC others(100): Show CGTCCCCCTCCCCCACACCCTACGCCCCCCCCCACGCCCCACGTCCCCCC TCCCCCACACCCCAGGTCCCCCTCCCCCACACCCTGCATCCCCTCCCCCA CGCCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG01069.hp2 others(23): Show HG00423.hp2 HG00673.hp1 HG01069.hp2 HG01261.hp1 HG01516.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG03579.hp1 HG03654.hp1 HG03834.hp1 HG04184.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18950.hp2 NA18960.hp1 NA18971.hp2 NA18983.hp2 NA19068.hp1 NA19079.hp2 NA19085.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0012	a0001c0001t0001 a0001c0002t0002 a0001c0002t0013 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0013 a0001c0002t0014 a0001c0003t0001 a0002c0012t0010	a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0089 others(23): Show a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0014 a0001c0002t0002g0017 a0001c0002t0002g0032 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0061 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0013g0062 a0001c0002t0014g0005 a0001c0003t0001g0155 a0002c0012t0010g0076	26	180	0.1444	107	c.25 others(118): Show c.2532_*2533insGTCCCCCTCCCCCACACCCTACGCCCCCCCCCAC GCCCCACGTCCCCCCTCCCCCACACCCCAGGTCCCCCTCCCCCACACCCT GCATCCCCTCCCCCACGCCTGCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		979		chr6	TogoVar
SORCS1_chr10_106568663_107169706	107065481	T T	TCCTCTCC others(100): Show TCCTCTCCTCTCTCTCTCTCTCTCTCTCTCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTCTCTT TCTCTCTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0048 a0001c0003t0001g0048	1	130	0.0077	107	c.558 others(126): Show c.558+98487_558+98488insGAGAGAGAAAGAGAGAAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAGAGAGAGAGAGAGAGAGAGAGAGGAGAGG	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7449141	C C	CTCCCTCC others(100): Show CTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCTCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTC CCTTCCTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18966.hp2 HG00438.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0010 a0001c0001t0006 a0001c0002t0010	a0001c0001t0006g0111 a0001c0002t0010g0045 a0001c0001t0006g0111 a0001c0002t0010g0045	2	168	0.0119	107	c.548 others(126): Show c.548+52788_548+52789insCCTCCCTCCCTTCCTCCCTCCCTTCC TCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTCTTTTCCCTCTCTCCCTCCCTTCCTGTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104696353	T T	TATACACA others(100): Show TATACACATATAATATATGATATATATCATATACACATATAATATATGAT ATATATCATATACACATATAATATATGATATATATCATATACACATATAA TATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18970.hp1 NA20905.hp2 NA18943.hp1 NA18970.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0002t0001g0034 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0002t0001g0034	3	134	0.0224	107	c.627 others(126): Show c.627+54402_627+54403insCACATATAATATATGATATATATCAT ATACACATATAATATATGATATATATCATATACACATATAATATATGATA TATATCATATACACATATAATATATATAATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPATA13_chr13_24155720_24312069	24190259	A A	ATATTATT others(100): Show ATATTATTATATAACATATCATATATAATATACATTATATACCATATGGT ATATAATATATATTATTATATACCATATGGTATATAATATTTATTATATA TAATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 NA18951.hp1 others(5): Show HG03490.hp1 HG03492.hp1 NA18951.hp1 NA18956.hp1 NA18956.hp2 NA19070.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0022 a0001c0002t0012 a0001c0002t0033 others(5): Show a0001c0001t0022 a0001c0002t0012 a0001c0002t0033 a0001c0002t0075 a0001c0003t0006 a0001c0003t0017 a0001c0004t0009 a0001c0004t0033	a0001c0001t0022g0257 a0001c0002t0012g0221 a0001c0002t0033g0222 others(5): Show a0001c0001t0022g0257 a0001c0002t0012g0221 a0001c0002t0033g0222 a0001c0002t0075g0191 a0001c0003t0006g0267 a0001c0003t0017g0344 a0001c0004t0009g0268 a0001c0004t0033g0314	8	356	0.0225	107	c.-11 others(128): Show c.-112+29327_-112+29328insTATTATTATATAACATATCATATA TAATATACATTATATACCATATGGTATATAATATATATTATTATATACCA TATGGTATATAATATTTATTATATATAATATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SRP68_chr17_76033785_76077517	76062684	A A	AATATACA others(100): Show AATATACATTATATATTATATAATATATAATATACATTATATATTATATA ATATATAATATACATTATATATTATATAATATATAATATACATTATATAT TATATAAT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	365	0.0027	107	c.562 others(124): Show c.562-1111_562-1110insATTATATAATATATAATGTATATTATAT ATTATATAATATATAATGTATATTATATATTATATAATATATAATGTATA TTATATATTATATAATATATAATGTATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
STARD9_chr15_42570606_42725998	42712111	A A	AATATATA others(100): Show AATATATAATATATATAATATATAATATATATATTATATATTATATATTA TATATATTATATATATTATATATATTATATATTATATATATTATATATAT TATATATT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	210	0.0048	107	c.132 others(128): Show c.13285-4550_13285-4549insATATATAATATATATATTATATAT TATATATTATATATATTATATATATTATATATATTATATATTATATATAT TATATATATTATATATTATATATAATATATATA	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STARD9_chr15_42570606_42725998	42712111	A A	AATATATA others(100): Show AATATATATAATATATAATATATAATATATATATTATATATTATATATTA TATATATTATATATATTATATATATTATATATTATATATATTATATATAT TATATATT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0209 a0001c0001t0015g0209	1	210	0.0048	107	c.132 others(128): Show c.13285-4559_13285-4558insTAATATATAATATATAATATATAT ATTATATATTATATATTATATATATTATATATATTATATATATTATATAT TATATATATTATATATATTATATATTATATATA	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STARD9_chr15_42570606_42725998	42712111	A A	AATATATA others(100): Show AATATATATAATATATATAATATATAATATATAATATATATATTATATAT TATATATTATATATATTATATATATTATATATTATATATATTATATATAT TATATATT	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19068.hp1 HG02738.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0132 a0001c0001t0001g0104 a0001c0001t0001g0132	2	210	0.0095	107	c.132 others(128): Show c.13285-4559_13285-4558insTAATATATATAATATATAATATAT AATATATATATTATATATTATATATTATATATATTATATATATTATATAT TATATATATTATATATATTATATATTATATATA	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STOML3_chr13_38960925_38995831	38988055	A A	AATATATT others(100): Show AATATATTATATTTTATATCATATATTTTATATATAATATGTTATATTTT ATATCATATATTTTATATATTATATTTTACATCATATATTTTATATCATA TATTTTAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG02615.hp2 others(2): Show HG01884.hp1 HG02451.hp2 HG02615.hp2 HG02647.hp2 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0004 a0002c0002t0008 a0003c0004t0008 a0001c0001t0004 a0002c0002t0008 a0003c0004t0008	a0001c0001t0004g0010 a0002c0002t0008g0080 a0003c0004t0008g0081 a0001c0001t0004g0010 a0002c0002t0008g0080 a0003c0004t0008g0081	5	396	0.0126	107	c.52+ others(122): Show c.52+2614_52+2615insATAAAATATATGATATAAAATATATGATGT AAAATATAATATATAAAATATATGATATAAAATATAACATATTATATATA AAATATATGATATAAAATATAATATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988362	T T	TTATATAA others(100): Show TTATATAAAATATATGATATTTTATATCATATATTTTATATAAAATATAT GATATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCAT ATATTTTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02257.hp2 others(3): Show HG01109.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp1 HG02895.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 others(2): Show a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0002c0002t0002g0018 a0002c0002t0002g0097	6	396	0.0152	107	c.52+ others(122): Show c.52+2307_52+2308insTAAAATATATGATATAAAATATCATATATT TTATATAAAATATATGATATAAAATATCATATATTTTATATAAAATATAT GATATAAAATATCATATATTTTATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988362	T T	TTATATAA others(100): Show TTATATAAAATATATGATATTTTATATCATATATTTTATATAAAATATAT GATATTTTATATCATATATTTTATATAAAATATATTATATTTTATATCAT ATATTTTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02976.hp2 HG02572.hp2 HG02630.hp1 HG02976.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0003 a0001c0001t0004 a0004c0003t0004 a0001c0001t0003 a0001c0001t0004 a0004c0003t0004	a0001c0001t0003g0096 a0001c0001t0004g0095 a0004c0003t0004g0094 a0001c0001t0003g0096 a0001c0001t0004g0095 a0004c0003t0004g0094	3	396	0.0076	107	c.52+ others(122): Show c.52+2307_52+2308insTAAAATATATGATATAAAATATAATATATT TTATATAAAATATATGATATAAAATATCATATATTTTATATAAAATATAT GATATAAAATATCATATATTTTATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988362	T T	TTATATAA others(100): Show TTATATAAAATATATGATATTTTATATCATATATTTTATATAAAATATAT TATATTTTATATCATATATTTTATATAAAATATATTATATTTTATATCAT ATATTTTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp1 HG02135.hp1 HG00408.hp1 HG02015.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093	3	396	0.0076	107	c.52+ others(122): Show c.52+2307_52+2308insTAAAATATATGATATAAAATATAATATATT TTATATAAAATATATGATATAAAATATAATATATTTTATATAAAATATAT GATATAAAATATCATATATTTTATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988362	T T	TTATATAA others(100): Show TTATATAAAATATATGATATTTTATATCATATATTTTATATAAAATATAT TATATTTTATATCATATATTTTATATATAATATATTATATTTTATATCAT ATATTTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02145.hp2 HG02717.hp1 HG00639.hp1 HG02145.hp2 HG02717.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0101 a0002c0002t0001g0089 a0002c0002t0001g0090 a0001c0001t0004g0101 a0002c0002t0001g0089 a0002c0002t0001g0090	3	396	0.0076	107	c.52+ others(122): Show c.52+2307_52+2308insTAAAATATATGATATAAAATATAATATATT ATATATAAAATATATGATATAAAATATAATATATTTTATATAAAATATAT GATATAAAATATCATATATTTTATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988367	T T	TAAAATAT others(100): Show TAAAATATATGATATTTTATATCATATATTTTATATAAAATATATTATAT TTTATATCATATATTTTATATAAAATATATTATATTTTATATCATATATT TTATATAA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	396	0.0025	107	c.52+ others(122): Show c.52+2302_52+2303insTTATATAAAATATATGATATAAAATATAAT ATATTTTATATAAAATATATGATATAAAATATAATATATTTTATATAAAA TATATGATATAAAATATCATATATTTT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STXBP5L_chr3_120903205_121429761	121360025	T T	TTATTACT others(100): Show TTATTACTATATAATATAATATATATATTATTACTATATAATATAATATA TATATTATTACTATATATATATTATTATATATATATAGTAATATATATAT TATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0209 a0001c0001t0021g0209	1	290	0.0035	107	c.217 others(128): Show c.2177-18667_2177-18666insTATTATTACTATATAATATAATAT ATATATTATTACTATATATATATTATTATATATATATAGTAATATATATA TTATATATATATTACTATATAATATAATATATA	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
SUFU_chr10_102498972_102638535	102638196	T T	TATATATG others(100): Show TATATATGATCATATAAATATATAATATATTATATATGATCATATAAATA TATAATATATTATATATGATCATATAAATATATAATATATTATATATGAT CATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	268	0.0037	107	c.80 others(118): Show c.8041_*8042insATATATGATCATATAAATATATAATATATTATAT ATGATCATATAAATATATAATATATTATATATGATCATATAAATATATAA TATATTATATATGATCATATAAA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4662		chr10	TogoVar
SV2C_chr5_76078383_76338956	76172420	T T	TGGGGGGG others(100): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCCGCCCCGGAGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0097 a0001c0001t0121g0097	1	234	0.0043	107	c.581 others(126): Show c.581-22492_581-22491insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCCGGAGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SYT1_chr12_78859774_79457008	79179456	A A	AGATATAT others(100): Show AGATATATCTATATATATATCCATATAGATATAGATATATCTATATATAT ATCCATATAGATATAGATATATCTATATATATATCCATATAGATATAGAT ATAGATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA20300.hp2 HG02559.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	2	62	0.0323	107	c.-17 others(126): Show c.-17-38047_-17-38046insGATATATCTATATATATATCCATATA GATATAGATATATCTATATATATATCCATATAGATATAGATATATCTATA TATATATCCATATAGATATAGATATAGATAT	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	3/10			chr12	TogoVar
SYTL3_chr6_158645054_158769871	158701221	A A	AAGGGCTG others(100): Show AAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTG AGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAG GGTCATGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp2 HG03453.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0046 a0002c0005t0001g0044 a0001c0001t0001g0046 a0002c0005t0001g0044	2	292	0.0069	107	c.395 others(124): Show c.395-6006_395-6005insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGG GAGGAGCCGTGGGAAGAGGGTCATGGAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701221	A A	AAGGGCTG others(100): Show AAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTG AGCTGGGGTGTACATGAAGGACTGTCTGGGGGTAGGAGCCGTGGGAAGAG GGTCATGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp1 HG01884.hp2 HG02970.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0042 a0005c0007t0001g0189 a0001c0001t0001g0042 a0005c0007t0001g0189	2	292	0.0069	107	c.395 others(124): Show c.395-6006_395-6005insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGG TAGGAGCCGTGGGAAGAGGGTCATGGAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701273	A A	AAGGGCTG others(100): Show AAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTG AGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAG GGTCATGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0010 a0002c0005t0002g0010	1	292	0.0034	107	c.395 others(124): Show c.395-5954_395-5953insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGG GAGGAGCCGTGGGAAGAGGGTCATGGAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701299	A A	AAGGGCTG others(100): Show AAGGGCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTG AGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCGTGGGAAGAG GGTCATGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	292	0.0034	107	c.395 others(124): Show c.395-5928_395-5927insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGG GAGGAGCCGTGGGAAGAGGGTCATGGAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701377	A A	AAGGGCTG others(100): Show AAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTG AGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCATGGGGAGAG GGTCATGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0272 a0004c0003t0001g0272	1	292	0.0034	107	c.395 others(124): Show c.395-5850_395-5849insGCTGTCTGGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGG GAGGAGCCATGGGGAGAGGGTCATGGAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TBATA_chr10_70766238_70790377	70767631	A A	AAAGAAAG others(100): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAAAGAGAGAAAGAGAGAA AGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	410	0.0024	107	c.37 others(118): Show c.3744_*3745insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTT CTTTCTTTCTTTCTTTCTTTCTT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3606		chr10	TogoVar
TBCD_chr17_82747065_82950914	82848860	C C	CGTCTTCT others(100): Show CGTCTTCTCCACCTCGATGTCCCCTCTGCCTGCTGCGTCTTCTCCACCTC GATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTCTG CCTGCTGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01433.hp2 others(5): Show HG01070.hp1 HG01071.hp1 HG01433.hp2 HG01496.hp1 HG01993.hp1 HG02004.hp1 HG02148.hp1 HG02273.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0039 a0002c0003t0003 a0002c0003t0039	a0002c0003t0003g0208 a0002c0003t0003g0211 a0002c0003t0003g0212 others(5): Show a0002c0003t0003g0208 a0002c0003t0003g0211 a0002c0003t0003g0212 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0224 a0002c0003t0003g0230 a0002c0003t0039g0206	8	318	0.0252	107	c.131 others(128): Show c.1319-21341_1319-21340insTCTGCCTGCTGCGTCTTCTCCACC TCGATGTCCCCCTCTGCCTGCTGCGTCTTCTCCACCTCGATGTCCCCCTC TGCCTGCTGTGTCTTCTCCACCTCGATGTCCCC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCF3_chr19_1604292_1657615	1627981	C C	CAGGGGGT others(100): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACAG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0016 a0001c0005t0009g0016	1	352	0.0028	107	c.299 others(122): Show c.299-556_299-555insCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1272643	A A	ACACATCA others(100): Show ACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACATCAGAC CCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCC ACAGTCAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	392	0.0026	107	c.228 others(124): Show c.2287-364_2287-363insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGTGATCGGTCACAGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar

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Search Results (Total: 10000 hits)