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
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp2 NA18939.hp1 HG04204.hp1 HG04204.hp2 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0104 a0002c0002t0001g0004 a0002c0002t0001g0104	3	458	0.0066	36	c.-43 others(47): Show c.-4377_-4376insAAAAAAAATATATATATATATATATATATATATA TA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(29): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	458	0.0022	36	c.-43 others(47): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAATATATATATATATATA TA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L11_chr2_111115914_111173444	111120979	T T	TGCCGCTG others(29): Show TGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp2 HG03540.hp2 HG01109.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0061 a0001c0001t0060 a0001c0001t0061	a0001c0001t0060g0011 a0001c0001t0061g0233 a0001c0001t0060g0011 a0001c0001t0061g0233	2	398	0.0050	36	c.-21 others(45): Show c.-218_-217insTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	1/4	2761	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17720154	T T	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp1 NA20805.hp1 HG02055.hp2 HG03041.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0006 a0001c0002t0012 a0001c0001t0008 a0001c0002t0006 a0001c0002t0012	a0001c0001t0008g0229 a0001c0002t0006g0067 a0001c0002t0012g0305 a0001c0001t0008g0229 a0001c0002t0006g0067 a0001c0002t0012g0305	3	306	0.0098	36	c.601 others(53): Show c.601-6495_601-6494insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2_chr18_63118346_63324769	63169336	C C	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0235 a0001c0001t0010g0235	1	264	0.0038	36	c.586 others(55): Show c.586-40578_586-40577insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63266637	T T	TCTCTCTC others(29): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0176 a0001c0001t0005g0176	1	264	0.0038	36	c.585 others(55): Show c.585+51444_585+51445insTGTGTGTGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL3_chr19_44743708_44765044	44756538	G G	GAGGAGGG others(29): Show GAGGAGGGCTGCAGGCCTGGGCTCCTGGGTCTGAGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02818.hp2 others(1): Show HG02572.hp2 HG02630.hp2 HG02818.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0116 a0001c0001t0006g0074 a0001c0001t0006g0092 others(1): Show a0001c0001t0001g0116 a0001c0001t0006g0074 a0001c0001t0006g0092 a0001c0001t0006g0095	4	344	0.0116	36	c.519 others(51): Show c.519+208_519+209insCAGGCCTGGGCTCCTGGGTCTGAGGAAGGA GGGCTG	BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCL3_chr19_44743708_44765044	44764168	A A	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	344	0.0029	36	c.45 others(47): Show c.4553_*4554insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG CG	BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding		4125		chr19	TogoVar
BCL7A_chr12_122016884_122067044	122064529	T T	TAAATGCC others(29): Show TAAATGCCCTTGATGGTTTAGGCAAGTTTTCACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0280 a0001c0002t0003g0280	1	362	0.0028	36	c.53 others(47): Show c.5366_*5367insAAATGCCCTTGATGGTTTAGGCAAGTTTTCACTG GG	BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding		2486		chr12	TogoVar
BCO1_chr16_81233689_81296142	81235195	T T	TATATATA others(29): Show TATATATAAATAAATATATATATATATATATAAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03540.hp2 HG02723.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0005t0001g0112 a0001c0005t0001g0113	2	402	0.0050	36	c.-37 others(47): Show c.-3714_-3713insATATATAAATAAATATATATATATATATATAAAT AA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3493		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235201	A A	AATAAATA others(29): Show AATAAATAAATATATATATATATATAAATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0122 a0001c0005t0001g0122	1	402	0.0025	36	c.-37 others(47): Show c.-3708_-3707insATAAATAAATATATATATATATATAAATAAATAT AT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3487		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235201	A A	AATAAATA others(29): Show AATAAATATATATATATATATATATAAATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 NA18906.hp2 NA19043.hp2 others(1): Show HG02109.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0017 a0001c0005 a0001c0017	a0001c0005t0001 a0001c0017t0001 a0001c0005t0001 a0001c0017t0001	a0001c0005t0001g0114 a0001c0005t0001g0116 a0001c0005t0001g0126 others(1): Show a0001c0005t0001g0114 a0001c0005t0001g0116 a0001c0005t0001g0126 a0001c0017t0001g0133	4	402	0.0100	36	c.-37 others(47): Show c.-3708_-3707insATAAATATATATATATATATATATAAATAAATAT AT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3487		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235210	A A	ATATATAT others(29): Show ATATATATATATATATAAATAAATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0004 a0002c0004t0001g0004	2	402	0.0050	36	c.-36 others(47): Show c.-3699_-3698insTATATATATATATATAAATAAATATATATATATA TT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3478		chr16	TogoVar
BCOR_chrX_40046251_40102958	40046552	A A	ATATATAT others(29): Show ATATATATATATGTGTATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	257	0.0039	36	c.55 others(47): Show c.5556_*5557insCATATATATATATATATATATACACATATATATA TA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4698		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046552	A A	ATATGTAT others(29): Show ATATGTATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	257	0.0039	36	c.55 others(47): Show c.5556_*5557insCATATATATATATATATATATATATATATATACA TA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4698		chrX	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0177 a0001c0001t0177	a0001c0001t0177g0123 a0001c0001t0177g0123	1	319	0.0031	36	c.12 others(47): Show c.1260_*1295dupACACACACACACACACACACACACACACACACAC AC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197542521	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0080 a0001c0009t0080	a0001c0009t0080g0228 a0001c0009t0080g0228	1	319	0.0031	36	c.83+ others(51): Show c.83+3839_83+3840insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	3/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197549975	T T	TTATTTTT others(29): Show TTATTTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp1 HG02055.hp1 others(4): Show HG00639.hp2 HG01884.hp1 HG02055.hp1 HG03139.hp1 HG03453.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0039 a0001c0001t0134 others(4): Show a0001c0001t0003 a0001c0001t0039 a0001c0001t0134 a0001c0001t0136 a0001c0001t0138 a0001c0001t0215 a0001c0002t0060	a0001c0001t0003g0023 a0001c0001t0039g0008 a0001c0001t0134g0043 others(4): Show a0001c0001t0003g0023 a0001c0001t0039g0008 a0001c0001t0134g0043 a0001c0001t0136g0045 a0001c0001t0138g0044 a0001c0001t0215g0024 a0001c0002t0060g0037	7	319	0.0219	36	c.-43 others(53): Show c.-43-3490_-43-3489insTATATATATATATATATATATATATATA TAAAAATA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	2/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197549975	T T	TTATTTTT others(29): Show TTATTTTTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0040 a0001c0001t0109g0040	1	319	0.0031	36	c.-43 others(53): Show c.-43-3490_-43-3489insTATATATATATATATATATATATATATA AAAAAATA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	2/7			chr3	TogoVar
BEAN1_chr16_66422295_66487833	66474557	A A	AGAGGGAG others(29): Show AGAGGGAGGGAGAGAGGGAGGGAGAGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18971.hp2 NA18953.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0189 a0001c0001t0001g0201	2	298	0.0067	36	c.290 others(53): Show c.290-2979_290-2944dupAGAGGGAGGGAGGGAGGGAGGGAGAGAG GGAGGGAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474570	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0109 a0001c0001t0007g0109	1	298	0.0034	36	c.290 others(53): Show c.290-2980_290-2979insGGAGGGAGGGAGGAAGGAAGGGAGGAAG GGAGGGAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474606	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	298	0.0034	36	c.290 others(53): Show c.290-2943_290-2942insGAGGGAGGGAGGAAGGAAGGGAGGAAGG GAGGGAGG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474622	G G	GAGGGAGG others(29): Show GAGGGAGGGAGGGAGGAAGGAAGGGAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03831.hp2 NA19007.hp1 others(1): Show HG00558.hp1 HG03831.hp2 NA19007.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0090 a0001c0001t0002g0091 a0002c0003t0002g0080 others(1): Show a0001c0001t0002g0090 a0001c0001t0002g0091 a0002c0003t0002g0080 a0002c0003t0002g0158	4	298	0.0134	36	c.290 others(53): Show c.290-2923_290-2922insAAGGAAGGGAGGAAGGGAGGAAGGGAGG GAGGGAGG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEX3_chrX_103371538_103383164	103372683	A A	AGGGGGGG others(29): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	298	0.0034	36	c.-40 others(47): Show c.-4022_-4021insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GG	BEX3	ENSG00000166681.14	transcript	ENST00000361298.9	protein_coding		3854		chrX	TogoVar
BFSP2_chr3_133395056_133480208	133424216	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	276	0.0036	36	c.490 others(55): Show c.490-23100_490-23099insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425807	G G	GGAAGGGA others(29): Show GGAAGGGAAGGGAAATAAAGAAGGGAAGGGAAATAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03041.hp2 HG03516.hp1 HG02109.hp2 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0006 a0001c0001t0001g0261 a0001c0001t0001g0267	3	276	0.0109	36	c.490 others(55): Show c.490-21501_490-21466dupGGGAAATAAAGAAGGGAAGGGAAATA AAGAAGGGAA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133449982	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0092 a0004c0005t0001g0092	1	276	0.0036	36	c.730 others(51): Show c.730-319_730-284dupAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BICC1_chr10_58507872_58836435	58607317	A A	AAAATAAA others(29): Show AAAATAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG04115.hp1 HG02132.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0050 a0002c0002t0011 a0002c0002t0050	a0002c0002t0011g0091 a0002c0002t0050g0132 a0002c0002t0011g0091 a0002c0002t0050g0132	2	132	0.0152	36	c.191 others(55): Show c.191-13511_191-13510insTAAATAAATAAATAAATAAATAAATA AATAAATAAA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32142468	A A	ATCTATCT others(29): Show ATCTATCTATCTATCTATCTATCTATCTATCTATCGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00639.hp2 others(24): Show HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG01081.hp1 HG01358.hp2 HG02027.hp1 HG02280.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03471.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp2 NA18944.hp1 NA18968.hp2 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA19010.hp1 NA19057.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0020 a0001c0003t0013 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0003g0050 others(24): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0003g0050 a0001c0001t0003g0067 a0001c0001t0007g0026 a0001c0001t0011g0044 a0001c0001t0011g0057 a0001c0001t0019g0185 a0001c0001t0019g0191 a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0210 a0001c0002t0001g0233 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0053 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0073 a0001c0002t0020g0052 a0001c0002t0020g0214 a0001c0003t0013g0051 a0001c0004t0001g0196 a0001c0006t0001g0058 a0001c0009t0001g0056	27	290	0.0931	36	c.213 others(55): Show c.213+34945_213+34946insCTATCTATCTATCGGTCTATCTATCT ATCTATCTAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCCT others(29): Show GTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0022 a0001c0002t0007g0022	1	290	0.0035	36	c.69 others(47): Show c.6961_*6962insTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(29): Show GTCTTCTTCTTCTTCTTCTTCTTCTTCTTATTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18988.hp2 NA18994.hp1 NA18981.hp1 NA18988.hp2 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0073 a0001c0002t0002g0212 a0001c0002t0005g0110 a0001c0002t0002g0073 a0001c0002t0002g0212 a0001c0002t0005g0110	3	290	0.0103	36	c.69 others(47): Show c.6961_*6962insTCTTCTTCTTCTTCTTCTTCTTCTTCTTATTCTT CT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICRAL_chr6_42777052_42873556	42857614	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18906.hp1 HG01884.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0141 a0001c0001t0004g0132 a0001c0001t0004g0141	2	270	0.0074	36	c.225 others(53): Show c.2254+379_2254+380insAAAAAAAAAAAATATATATATATATATA TATATATA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47685786	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0123 a0002c0010t0001g0123	1	312	0.0032	36	c.228 others(55): Show c.2283+3635_2283+3636insTGTGTGTGTGTGTGTGTGTGCGCGCG CGCGCGCGCG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(29): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0284 a0001c0002t0001g0284	1	344	0.0029	36	c.84+ others(51): Show c.84+1357_84+1392dupAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	400	0.0025	36	c.81+ others(51): Show c.81+3087_81+3088insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIRC6_chr2_32352023_32623878	32508276	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0156 a0001c0014t0001g0156	1	274	0.0037	36	c.998 others(51): Show c.9980+44_9980+45insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	51/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01952.hp2 HG01975.hp1 others(6): Show HG01891.hp1 HG01952.hp2 HG01975.hp1 NA18944.hp2 NA18951.hp2 NA18955.hp1 NA18966.hp2 NA19065.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0037 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0005t0001 a0001c0037t0001 a0002c0002t0003	a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0238 others(6): Show a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0269 a0001c0001t0002g0211 a0001c0003t0003g0133 a0001c0005t0001g0228 a0001c0037t0001g0038 a0002c0002t0003g0164	9	274	0.0329	36	c.133 others(57): Show c.13355+3624_13355+3625insTATATATATATATATATATATATA TATATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC7_chr20_63230905_63245495	63234268	A A	AAAGGCGA others(29): Show AAAGGCGAGGTGGGCGCTGGAGGACAGAGAGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02280.hp2 HG02818.hp2 others(8): Show HG01167.hp1 HG02280.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1	a0003 a0004 a0003 a0004	a0003c0021 a0004c0005 a0003c0021 a0004c0005	a0003c0021t0001 a0004c0005t0001 a0003c0021t0001 a0004c0005t0001	a0003c0021t0001g0005 a0004c0005t0001g0005 a0004c0005t0001g0009 others(1): Show a0003c0021t0001g0005 a0004c0005t0001g0005 a0004c0005t0001g0009 a0004c0005t0001g0023	11	300	0.0367	36	c.-18 others(47): Show c.-1829_-1828insAAGGCGAGGTGGGCGCTGGAGGACAGAGAGGGGG CG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		1636		chr20	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01258.hp1 HG01261.hp1 others(4): Show HG00741.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG02080.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0038 a0001c0001t0003g0205 a0001c0001t0003g0230 others(3): Show a0001c0001t0003g0038 a0001c0001t0003g0205 a0001c0001t0003g0230 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0018g0079	7	404	0.0173	36	c.103 others(55): Show c.1035-1121_1035-1120insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLOC1S2_chr10_100268293_100291680	100278171	C C	CCCTCGGC others(29): Show CCCTCGGCCAGCCGCCCCGTCACTCGGGAGGGCAGTG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	378	0.0027	36	c.397 others(53): Show c.397+1952_397+1953insCACTGCCCTCCCGAGTGACGGGGCGGCT GGCCGAGG	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(29): Show AAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0096 a0003c0002t0001g0096	1	188	0.0053	36	c.44+ others(51): Show c.44+1862_44+1863insATATATATATATATATATATATATATATAT TTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0094 a0003c0002t0001g0094	1	188	0.0053	36	c.44+ others(51): Show c.44+1862_44+1863insATATATATATATATATATATATATATATAT ATTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRB_chr19_40442768_40470745	40460245	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	362	0.0028	36	c.80- others(51): Show c.80-1701_80-1700insATATATATATATATATATATATATATATAT ATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40460247	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01993.hp1 HG02145.hp1 others(1): Show HG01952.hp2 HG01993.hp1 HG02145.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0134	4	362	0.0111	36	c.80- others(51): Show c.80-1703_80-1702insATATATATATATATATATATATATATATAT ATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BMAL1_chr11_13272790_13392266	13288394	T T	TCTTTCTT others(29): Show TCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp2 HG02451.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0135 a0001c0001t0001g0136	2	314	0.0064	36	c.-26 others(57): Show c.-263+10471_-263+10472insCTTTCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19			chr11	TogoVar
BMAL1_chr11_13272790_13392266	13288394	T T	TCTTTTTT others(29): Show TCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	314	0.0032	36	c.-26 others(57): Show c.-263+10471_-263+10472insCTTTTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19			chr11	TogoVar
BMAL1_chr11_13272790_13392266	13288427	T T	TCTTTCTT others(29): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	314	0.0032	36	c.-26 others(57): Show c.-263+10504_-263+10505insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTTC	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19			chr11	TogoVar
BMF_chr15_40082890_40113879	40106517	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18939.hp2 HG04228.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0044 a0001c0001t0005 a0001c0001t0044	a0001c0001t0005g0043 a0001c0001t0044g0044 a0001c0001t0005g0043 a0001c0001t0044g0044	2	414	0.0048	36	c.-5- others(49): Show c.-5-427_-5-426insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMP7_chr20_57163753_57271641	57190356	A A	AGAGGGGG others(29): Show AGAGGGGGTGAGGCTGGAGAGCGTGAGTGAGGAGCCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG02897.hp1 others(3): Show HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03471.hp1 HG03486.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013	a0001c0001t0001g0115 a0001c0001t0004g0255 a0001c0001t0004g0256 others(3): Show a0001c0001t0001g0115 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0006g0251 a0001c0001t0013g0261 a0001c0001t0013g0262	6	272	0.0221	36	c.761 others(53): Show c.761-6473_761-6438dupGGGCTCCTCACTCACGCTCTCCAGCCTC ACCCCCTC	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	3/6			chr20	TogoVar
BMP7_chr20_57163753_57271641	57190413	C C	CGTGAGTG others(29): Show CGTGAGTGAGGAGCCCGAGGGGGTGAGGCTGGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03491.hp1 HG03688.hp2 HG00280.hp1 HG03491.hp1 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0016 a0001c0003t0028 a0001c0004t0002 a0001c0003t0016 a0001c0003t0028 a0001c0004t0002	a0001c0003t0016g0265 a0001c0003t0028g0266 a0001c0004t0002g0127 a0001c0003t0016g0265 a0001c0003t0028g0266 a0001c0004t0002g0127	3	272	0.0110	36	c.761 others(53): Show c.761-6495_761-6494insTCTCTCCAGCCTCACCCCCTCGGGCTCC TCACTCAC	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	3/6			chr20	TogoVar

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Search Results (Total: 8848 hits)