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
CRB3_chr19_6459271_6472221	6461233	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(25): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00639.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01516.hp2 HG01884.hp1 HG02257.hp1 HG02257.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG04228.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0002g0003 a0001c0002t0003g0007	28	390	0.0718	-10	c.-32 others(21): Show c.-3211_-3202delTTTTTTTTTT	CRB3	ENSG00000130545.16	transcript	ENST00000600229.6	protein_coding		3037		chr19	TogoVar
CRB3_chr19_6459271_6472221	6464401	GCCCGTCC others(3): Show GCCCGTCCCGT	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19001.hp2 NA18964.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	390	0.0051	-10	c.-95 others(23): Show c.-95+70_-95+79delGTCCCGTCCC	CRB3	ENSG00000130545.16	transcript	ENST00000600229.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRB3_chr19_6459271_6472221	6469188	TACCCAGC others(3): Show TACCCAGCTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	390	0.0026	-10	c.25 others(21): Show c.2517_*2526delACCCAGCTAA	CRB3	ENSG00000130545.16	transcript	ENST00000600229.6	protein_coding		1968		chr19	TogoVar
CRBN_chr3_3145011_3184691	3183951	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02055.hp2 HG03098.hp2 HG00099.hp2 HG02055.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0039 a0001c0001t0002g0151 a0001c0001t0003g0111 a0001c0001t0001g0039 a0001c0001t0002g0151 a0001c0001t0003g0111	3	376	0.0080	-10	c.-42 others(21): Show c.-4274_-4265delACACACACAC	CRBN	ENSG00000113851.16	transcript	ENST00000231948.9	protein_coding		4261		chr3	TogoVar
CRCP_chr7_66109847_66159568	66124044	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02572.hp1 others(6): Show HG01243.hp2 HG02055.hp1 HG02572.hp1 HG02895.hp2 HG02976.hp1 HG03139.hp1 HG03471.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0100 a0001c0001t0002g0102 others(5): Show a0001c0001t0002g0010 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0131	9	380	0.0237	-10	c.9-3 others(23): Show c.9-3633_9-3624delAAAAAAAAAA	CRCP	ENSG00000241258.7	transcript	ENST00000395326.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRCP_chr7_66109847_66159568	66149348	TACAAAAA others(3): Show TACAAAAAATA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	380	0.0026	-10	c.298 others(27): Show c.298-2858_298-2849delCAAAAAATAA	CRCP	ENSG00000241258.7	transcript	ENST00000395326.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRCP_chr7_66109847_66159568	66150956	TCATCTCT others(3): Show TCATCTCTAGA	T T	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0119 a0001c0001t0006g0119	1	380	0.0026	-10	c.298 others(27): Show c.298-1251_298-1242delCATCTCTAGA	CRCP	ENSG00000241258.7	transcript	ENST00000395326.8	protein_coding	5/5			chr7	TogoVar
CRCP_chr7_66109847_66159568	66151673	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03516.hp1 HG06807.hp1 others(2): Show HG01106.hp2 HG03516.hp1 HG06807.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013	a0001c0001t0002g0072 a0001c0001t0002g0086 a0001c0001t0005g0343 others(2): Show a0001c0001t0002g0072 a0001c0001t0002g0086 a0001c0001t0005g0343 a0001c0001t0013g0354 a0001c0001t0013g0355	5	380	0.0132	-10	c.298 others(25): Show c.298-500_298-491delTGTGTGTGTG	CRCP	ENSG00000241258.7	transcript	ENST00000395326.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRCT1_chr1_152509482_152521008	152514136	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 NA19012.hp1 HG04204.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0002t0002g0001 a0001c0001t0001g0001 a0001c0002t0002g0001	2	432	0.0046	-10	c.-43 others(19): Show c.-438_-429delTGTGTGTGTG	CRCT1	ENSG00000169509.6	transcript	ENST00000368790.4	protein_coding		345		chr1	TogoVar
CRCT1_chr1_152509482_152521008	152514170	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0002 a0002c0003t0002g0002	1	432	0.0023	-10	c.-40 others(19): Show c.-404_-395delTGTGTGTGTA	CRCT1	ENSG00000169509.6	transcript	ENST00000368790.4	protein_coding		311		chr1	TogoVar
CREB1_chr2_207524962_207610988	207540669	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0189 a0001c0001t0008g0189	1	308	0.0033	-10	c.-9+ others(27): Show c.-9+10554_-9+10563delAAAAAAAAAA	CREB1	ENSG00000118260.15	transcript	ENST00000353267.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
CREB3L1_chr11_46272662_46326409	46305680	GTGTGTAT others(3): Show GTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	304	0.0033	-10	c.332 others(27): Show c.332-2130_332-2121delATATATGTGT	CREB3L1	ENSG00000157613.11	transcript	ENST00000621158.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
CREB3L1_chr11_46272662_46326409	46326399	GAGGGAGG others(3): Show GAGGGAGGAAG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02818.hp1 HG03130.hp2 others(1): Show HG02723.hp1 HG02818.hp1 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0015 a0001c0001t0003g0089 a0001c0001t0003g0090	4	304	0.0132	-10	c.56 others(21): Show c.5654_*5663delAGGGAGGAAG	CREB3L1	ENSG00000157613.11	transcript	ENST00000621158.5	protein_coding		4991		chr11	TogoVar
CREB3L2_chr7_137869979_138007086	137876331	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02818.hp1 HG03098.hp1 others(1): Show HG02280.hp2 HG02818.hp1 HG03098.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0016 a0001c0004t0016 a0002c0002t0069 a0001c0001t0016 a0001c0004t0016 a0002c0002t0069	a0001c0001t0016g0031 a0001c0001t0016g0275 a0001c0004t0016g0157 others(1): Show a0001c0001t0016g0031 a0001c0001t0016g0275 a0001c0004t0016g0157 a0002c0002t0069g0285	4	288	0.0139	-10	c.41 others(21): Show c.4135_*4144delACACACACAC	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	12/12	4135		chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137899107	AGGAAGGA others(3): Show AGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0061 a0001c0001t0040g0061	1	288	0.0035	-10	c.104 others(29): Show c.1043+2237_1043+2246delCCTTCCTTCC	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	8/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946870	ATATAGTT others(3): Show ATATAGTTATC	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02257.hp1 HG02451.hp2 others(5): Show HG01928.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 NA19063.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0008 others(1): Show a0001c0001 a0002c0002 a0002c0008 a0004c0005	a0001c0001t0005 a0001c0001t0025 a0001c0001t0026 others(4): Show a0001c0001t0005 a0001c0001t0025 a0001c0001t0026 a0001c0001t0037 a0002c0002t0015 a0002c0008t0022 a0004c0005t0004	a0001c0001t0005g0030 a0001c0001t0025g0249 a0001c0001t0026g0178 others(5): Show a0001c0001t0005g0030 a0001c0001t0025g0249 a0001c0001t0026g0178 a0001c0001t0037g0106 a0002c0002t0015g0193 a0002c0008t0022g0033 a0002c0008t0022g0034 a0004c0005t0004g0166	8	288	0.0278	-10	c.103 others(29): Show c.103-18514_103-18505delGATAACTATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946914	ATATATAT others(3): Show ATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01081.hp1 others(16): Show HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02074.hp2 HG02148.hp1 HG02293.hp2 HG02300.hp2 HG02809.hp1 HG03209.hp2 NA18612.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0008 a0003c0003 a0001c0001 a0002c0008 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0008t0008 a0002c0008t0041 a0003c0003t0002 a0003c0003t0004 a0003c0003t0060	a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0114 others(16): Show a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0114 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0270 a0001c0001t0002g0163 a0001c0001t0002g0229 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0255 a0001c0001t0006g0228 a0002c0008t0008g0007 a0002c0008t0041g0272 a0003c0003t0002g0126 a0003c0003t0004g0164 a0003c0003t0004g0165 a0003c0003t0060g0161	19	288	0.0660	-10	c.103 others(29): Show c.103-18558_103-18549delACTATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946926	ATATATAT others(3): Show ATATATATAGT	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	288	0.0035	-10	c.103 others(29): Show c.103-18570_103-18561delACTATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137972437	CAAACAAA others(3): Show CAAACAAAACA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02055.hp1 HG02055.hp2 others(15): Show HG00741.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp2 HG06807.hp2 NA19240.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0002c0006 a0001c0004 a0002c0002 a0002c0006	a0001c0004t0001 a0001c0004t0003 a0001c0004t0010 others(9): Show a0001c0004t0001 a0001c0004t0003 a0001c0004t0010 a0001c0004t0016 a0001c0004t0017 a0001c0004t0021 a0001c0004t0031 a0001c0004t0056 a0002c0002t0013 a0002c0002t0018 a0002c0002t0044 a0002c0006t0015	a0001c0004t0001g0100 a0001c0004t0003g0102 a0001c0004t0010g0078 others(15): Show a0001c0004t0001g0100 a0001c0004t0003g0102 a0001c0004t0010g0078 a0001c0004t0010g0162 a0001c0004t0010g0200 a0001c0004t0010g0278 a0001c0004t0016g0157 a0001c0004t0017g0240 a0001c0004t0021g0158 a0001c0004t0031g0009 a0001c0004t0031g0111 a0001c0004t0056g0250 a0002c0002t0013g0027 a0002c0002t0013g0060 a0002c0002t0013g0197 a0002c0002t0018g0113 a0002c0002t0044g0194 a0002c0006t0015g0014	18	288	0.0625	-10	c.102 others(29): Show c.102+29157_102+29166delTGTTTTGTTT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137972704	AAAAAAAA others(3): Show AAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0284 a0001c0001t0068g0284	1	288	0.0035	-10	c.102 others(29): Show c.102+28890_102+28899delATTTTTTTTT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137972734	TATAGAGA others(3): Show TATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	288	0.0035	-10	c.102 others(29): Show c.102+28860_102+28869delCTCTCTCTAT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137972736	TAGAGAGA others(3): Show TAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01243.hp1 HG01515.hp2 others(20): Show HG00597.hp2 HG01243.hp1 HG01515.hp2 HG02280.hp2 HG02523.hp2 HG02922.hp1 HG03486.hp1 HG03490.hp2 NA18950.hp2 NA18952.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp2 NA18983.hp2 NA18984.hp2 NA18999.hp1 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0063 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0069 a0003c0003t0002 a0003c0003t0004 a0003c0003t0062 a0006c0012t0065	a0001c0001t0001g0059 a0001c0001t0001g0203 a0001c0001t0003g0055 others(20): Show a0001c0001t0001g0059 a0001c0001t0001g0203 a0001c0001t0003g0055 a0001c0001t0004g0188 a0001c0001t0004g0205 a0001c0001t0005g0022 a0001c0001t0005g0271 a0001c0001t0006g0234 a0001c0001t0008g0214 a0001c0001t0063g0068 a0002c0002t0001g0023 a0002c0002t0002g0105 a0002c0002t0003g0040 a0002c0002t0003g0108 a0002c0002t0004g0187 a0002c0002t0005g0088 a0002c0002t0005g0097 a0002c0002t0006g0261 a0002c0002t0069g0285 a0003c0003t0002g0021 a0003c0003t0004g0262 a0003c0003t0062g0057 a0006c0012t0065g0252	23	288	0.0799	-10	c.102 others(29): Show c.102+28858_102+28867delCTCTCTCTCT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137999379	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG02809.hp2 others(5): Show HG01891.hp1 HG02630.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03453.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0008 a0004c0005	a0001c0001t0005 a0001c0001t0016 a0001c0004t0010 others(4): Show a0001c0001t0005 a0001c0001t0016 a0001c0004t0010 a0002c0002t0018 a0002c0002t0032 a0002c0008t0022 a0004c0005t0009	a0001c0001t0005g0035 a0001c0001t0016g0031 a0001c0004t0010g0278 others(5): Show a0001c0001t0005g0035 a0001c0001t0016g0031 a0001c0004t0010g0278 a0002c0002t0018g0032 a0002c0002t0032g0037 a0002c0008t0022g0033 a0002c0008t0022g0034 a0004c0005t0009g0036	8	288	0.0278	-10	c.102 others(27): Show c.102+2215_102+2224delGTGTGTGTGT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB3L4_chr1_153962902_153979359	153971571	TTTTCTTT others(3): Show TTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	394	0.0025	-10	c.544 others(27): Show c.544-1169_544-1160delCTTTTTCTTT	CREB3L4	ENSG00000143578.16	transcript	ENST00000368607.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CREB5_chr7_28407518_28830894	28451450	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(68): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02698.hp1 HG02809.hp1 HG02809.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 NA18522.hp2 NA18954.hp1 NA18957.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA19000.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0038 a0001c0001t0042 a0001c0001t0044 a0001c0003t0031	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 others(68): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0064 a0001c0001t0001g0107 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0166 a0001c0001t0002g0174 a0001c0001t0003g0011 a0001c0001t0003g0045 a0001c0001t0003g0069 a0001c0001t0003g0104 a0001c0001t0003g0112 a0001c0001t0003g0135 a0001c0001t0003g0177 a0001c0001t0003g0185 a0001c0001t0003g0189 a0001c0001t0004g0008 a0001c0001t0004g0051 a0001c0001t0004g0062 a0001c0001t0004g0073 a0001c0001t0004g0098 a0001c0001t0004g0175 a0001c0001t0005g0095 a0001c0001t0005g0159 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0172 a0001c0001t0006g0009 a0001c0001t0006g0124 a0001c0001t0007g0012 a0001c0001t0007g0075 a0001c0001t0008g0014 a0001c0001t0008g0063 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0103 a0001c0001t0009g0025 a0001c0001t0009g0161 a0001c0001t0009g0178 a0001c0001t0009g0181 a0001c0001t0010g0144 a0001c0001t0011g0003 a0001c0001t0011g0133 a0001c0001t0011g0197 a0001c0001t0012g0119 a0001c0001t0015g0162 a0001c0001t0015g0167 a0001c0001t0015g0190 a0001c0001t0018g0184 a0001c0001t0019g0021 a0001c0001t0019g0024 a0001c0001t0021g0001 a0001c0001t0022g0066 a0001c0001t0023g0127 a0001c0001t0024g0132 a0001c0001t0025g0080 a0001c0001t0026g0182 a0001c0001t0032g0180 a0001c0001t0038g0170 a0001c0001t0042g0134 a0001c0001t0044g0173 a0001c0003t0031g0160	71	198	0.3586	-10	c.4-3 others(25): Show c.4-36691_4-36682delGTGTGTGTGT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28464496	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	198	0.0051	-10	c.4-2 others(25): Show c.4-23646_4-23637delGTGTGTGTGT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28475250	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01167.hp2 HG01169.hp1 others(39): Show HG00558.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01361.hp1 HG01361.hp2 HG01891.hp2 HG01934.hp1 HG02015.hp1 HG02055.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02897.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 NA18522.hp2 NA18945.hp2 NA18954.hp2 NA18969.hp2 NA18978.hp2 NA19009.hp2 NA19057.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0032 a0001c0001t0034 a0001c0001t0041 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0053 a0001c0003t0031	a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0048 others(39): Show a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0099 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0120 a0001c0001t0002g0165 a0001c0001t0003g0010 a0001c0001t0003g0045 a0001c0001t0003g0112 a0001c0001t0004g0020 a0001c0001t0004g0098 a0001c0001t0004g0101 a0001c0001t0004g0128 a0001c0001t0005g0002 a0001c0001t0005g0095 a0001c0001t0005g0122 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0008g0117 a0001c0001t0009g0161 a0001c0001t0009g0181 a0001c0001t0010g0171 a0001c0001t0011g0003 a0001c0001t0015g0162 a0001c0001t0015g0190 a0001c0001t0016g0007 a0001c0001t0016g0168 a0001c0001t0023g0127 a0001c0001t0032g0180 a0001c0001t0034g0111 a0001c0001t0041g0121 a0001c0001t0044g0173 a0001c0001t0046g0019 a0001c0001t0047g0100 a0001c0001t0048g0061 a0001c0001t0053g0030 a0001c0003t0031g0160	42	198	0.2121	-10	c.4-1 others(25): Show c.4-12897_4-12888delTTTTTTTTTT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28524316	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp1 HG03579.hp2 others(1): Show HG01255.hp1 HG01884.hp1 HG03579.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0027 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0027 a0001c0001t0030	a0001c0001t0002g0166 a0001c0001t0015g0167 a0001c0001t0027g0147 others(1): Show a0001c0001t0002g0166 a0001c0001t0015g0167 a0001c0001t0027g0147 a0001c0001t0030g0044	4	198	0.0202	-10	c.291 others(29): Show c.291+16614_291+16623delACACACACAC	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560813	TGTGTGTG others(3): Show TGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	198	0.0051	-10	c.292 others(27): Show c.292-9550_292-9541delTGTGTGTGCG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560897	CGTGCGCG others(3): Show CGTGCGCGCGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01167.hp2 others(7): Show HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01169.hp1 HG02257.hp2 HG02486.hp1 HG02809.hp2 HG02976.hp1 HG03139.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0032	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0005g0122 others(7): Show a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0005g0122 a0001c0001t0005g0163 a0001c0001t0010g0145 a0001c0001t0010g0146 a0001c0001t0012g0141 a0001c0001t0015g0162 a0001c0001t0015g0190 a0001c0001t0032g0180	10	198	0.0505	-10	c.292 others(27): Show c.292-9466_292-9457delTGCGCGCGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28560937	CGTGCGTG others(3): Show CGTGCGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0157 a0001c0001t0013g0157	1	198	0.0051	-10	c.292 others(27): Show c.292-9404_292-9395delCGTGTGTGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28607735	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01123.hp1 others(30): Show HG00639.hp2 HG01071.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01258.hp1 HG02015.hp2 HG02129.hp2 HG02257.hp2 HG02258.hp2 HG02647.hp1 HG02809.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03688.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18945.hp1 NA18954.hp1 NA18957.hp1 NA18978.hp2 NA19000.hp1 NA19043.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0033 a0001c0001t0043 a0001c0001t0045 a0001c0002t0051	a0001c0001t0001g0053 a0001c0001t0001g0089 a0001c0001t0001g0107 others(30): Show a0001c0001t0001g0053 a0001c0001t0001g0089 a0001c0001t0001g0107 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0092 a0001c0001t0002g0116 a0001c0001t0003g0104 a0001c0001t0003g0112 a0001c0001t0003g0150 a0001c0001t0003g0177 a0001c0001t0004g0020 a0001c0001t0004g0062 a0001c0001t0005g0054 a0001c0001t0005g0122 a0001c0001t0006g0105 a0001c0001t0007g0151 a0001c0001t0007g0192 a0001c0001t0009g0181 a0001c0001t0011g0133 a0001c0001t0011g0197 a0001c0001t0013g0070 a0001c0001t0014g0067 a0001c0001t0016g0007 a0001c0001t0017g0115 a0001c0001t0019g0021 a0001c0001t0022g0106 a0001c0001t0024g0132 a0001c0001t0027g0147 a0001c0001t0033g0068 a0001c0001t0043g0156 a0001c0001t0045g0046 a0001c0002t0051g0047	33	198	0.1667	-10	c.464 others(29): Show c.464+37248_464+37257delGTGTGTGTGT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28608111	TCTCACAC others(3): Show TCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp2 HG01167.hp2 others(16): Show HG00738.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01891.hp1 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02559.hp1 HG02572.hp1 HG03130.hp2 HG03239.hp1 HG03688.hp2 HG03710.hp1 HG04204.hp1 HG04228.hp2 NA18945.hp2 NA18983.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0033 a0001c0001t0034 a0001c0001t0041 a0001c0001t0049	a0001c0001t0001g0074 a0001c0001t0002g0023 a0001c0001t0002g0027 others(16): Show a0001c0001t0001g0074 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0091 a0001c0001t0002g0129 a0001c0001t0002g0155 a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0029 a0001c0001t0003g0198 a0001c0001t0005g0002 a0001c0001t0005g0172 a0001c0001t0013g0085 a0001c0001t0033g0068 a0001c0001t0034g0111 a0001c0001t0041g0121 a0001c0001t0049g0076	19	198	0.0960	-10	c.464 others(29): Show c.464+37586_464+37595delTCACACACAC	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28612543	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18522.hp1 HG02486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0158 a0001c0001t0020g0169 a0001c0001t0002g0158 a0001c0001t0020g0169	2	198	0.0101	-10	c.464 others(29): Show c.464+42043_464+42052delGTGTGTGTGT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28689909	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG03041.hp1 others(2): Show HG01069.hp2 HG01071.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0019 a0001c0001t0010 a0001c0001t0019	a0001c0001t0010g0144 a0001c0001t0010g0145 a0001c0001t0010g0146 others(2): Show a0001c0001t0010g0144 a0001c0001t0010g0145 a0001c0001t0010g0146 a0001c0001t0010g0171 a0001c0001t0019g0024	5	198	0.0253	-10	c.465 others(29): Show c.465-28815_465-28806delGTGTGTGTGT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28737539	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp2 HG01071.hp1 others(19): Show HG00558.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01361.hp2 HG01496.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp2 HG03195.hp2 HG03239.hp2 HG03516.hp1 NA18954.hp1 NA18978.hp1 NA18978.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0028 a0001c0001t0032 a0001c0001t0037	a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0060 others(19): Show a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0091 a0001c0001t0002g0113 a0001c0001t0003g0104 a0001c0001t0004g0098 a0001c0001t0009g0181 a0001c0001t0010g0145 a0001c0001t0010g0146 a0001c0001t0010g0171 a0001c0001t0012g0119 a0001c0001t0016g0007 a0001c0001t0016g0168 a0001c0001t0017g0194 a0001c0001t0028g0037 a0001c0001t0032g0180 a0001c0001t0037g0077	22	198	0.1111	-10	c.702 others(29): Show c.702+13247_702+13256delATATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28775543	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19011.hp2 HG02083.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0125 a0001c0001t0023g0127 a0001c0001t0001g0125 a0001c0001t0023g0127	2	198	0.0101	-10	c.703 others(29): Show c.703-28643_703-28634delATATATATAT	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28790428	AAGAGAGA others(3): Show AAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 NA20752.hp1 HG01515.hp1 HG01517.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0054 a0001c0001t0005g0087 a0001c0001t0005g0088	3	198	0.0152	-10	c.703 others(29): Show c.703-13747_703-13738delGAGAGAGAGA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB5_chr7_28407518_28830894	28790452	GAGAGAGA others(3): Show GAGAGAGAGAT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG04228.hp2 HG02970.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0043 a0001c0001t0013 a0001c0001t0043	a0001c0001t0013g0085 a0001c0001t0043g0156 a0001c0001t0013g0085 a0001c0001t0043g0156	2	198	0.0101	-10	c.703 others(29): Show c.703-13737_703-13728delTAGAGAGAGA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREBBP_chr16_3720054_3885713	3724244	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18969.hp2 NA19007.hp2 HG00408.hp2 NA18969.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0001g0142 a0001c0001t0002g0047 a0001c0001t0001g0102 a0001c0001t0001g0142 a0001c0001t0002g0047	3	286	0.0105	-10	c.34 others(21): Show c.3464_*3473delAAAAAAAAAA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding		809		chr16	TogoVar
CREBBP_chr16_3720054_3885713	3760391	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00642.hp2 others(42): Show HG00438.hp2 HG00621.hp2 HG00642.hp2 HG01081.hp2 HG01099.hp1 HG01891.hp1 HG01891.hp2 HG02004.hp1 HG02015.hp1 HG02080.hp2 HG02451.hp1 HG02523.hp2 HG02615.hp2 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03540.hp1 HG03710.hp1 HG04199.hp2 NA18522.hp1 NA18943.hp1 NA18955.hp1 NA18961.hp2 NA18975.hp2 NA18984.hp1 NA18988.hp1 NA18990.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19065.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0008	a0001c0002 a0001c0004 a0001c0005 others(12): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0011 a0001c0020 a0001c0021 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0004c0010 a0006c0017 a0008c0022	a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 others(22): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0002t0027 a0001c0002t0029 a0001c0004t0006 a0001c0004t0048 a0001c0005t0001 a0001c0005t0002 a0001c0005t0010 a0001c0007t0018 a0001c0009t0001 a0001c0011t0006 a0001c0020t0006 a0001c0021t0018 a0001c0024t0003 a0001c0025t0003 a0001c0026t0001 a0001c0027t0007 a0004c0010t0011 a0004c0010t0047 a0006c0017t0011 a0008c0022t0011	a0001c0002t0002g0217 a0001c0002t0003g0196 a0001c0002t0003g0198 others(42): Show a0001c0002t0002g0217 a0001c0002t0003g0196 a0001c0002t0003g0198 a0001c0002t0003g0200 a0001c0002t0003g0212 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0239 a0001c0002t0012g0261 a0001c0002t0012g0262 a0001c0002t0013g0002 a0001c0002t0013g0003 a0001c0002t0013g0004 a0001c0002t0020g0209 a0001c0002t0027g0284 a0001c0002t0027g0285 a0001c0002t0029g0005 a0001c0004t0006g0222 a0001c0004t0006g0230 a0001c0004t0006g0231 a0001c0004t0006g0232 a0001c0004t0048g0264 a0001c0005t0001g0194 a0001c0005t0001g0204 a0001c0005t0001g0205 a0001c0005t0002g0206 a0001c0005t0010g0211 a0001c0007t0018g0225 a0001c0009t0001g0201 a0001c0009t0001g0202 a0001c0009t0001g0203 a0001c0011t0006g0226 a0001c0020t0006g0229 a0001c0021t0018g0224 a0001c0024t0003g0197 a0001c0025t0003g0199 a0001c0026t0001g0210 a0001c0027t0007g0007 a0004c0010t0011g0250 a0004c0010t0011g0251 a0004c0010t0047g0249 a0006c0017t0011g0252 a0008c0022t0011g0248	45	286	0.1573	-10	c.325 others(29): Show c.3251-1429_3251-1420delAAAAAAAAAA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	16/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3768136	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG04199.hp2 NA18612.hp2 others(2): Show HG03209.hp2 HG04199.hp2 NA18612.hp2 NA18942.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0002 a0001c0001t0014 a0001c0002t0003 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0002t0003 a0001c0011t0006	a0001c0001t0002g0054 a0001c0001t0002g0079 a0001c0001t0014g0066 others(2): Show a0001c0001t0002g0054 a0001c0001t0002g0079 a0001c0001t0014g0066 a0001c0002t0003g0200 a0001c0011t0006g0226	5	286	0.0175	-10	c.306 others(27): Show c.3061-237_3061-228delAAAAAAAAAA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	15/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3794331	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0207 a0001c0012t0001g0207	1	286	0.0035	-10	c.976 others(25): Show c.976-715_976-706delTTTTTTTTTT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	3/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3803260	CGGGGAGG others(3): Show CGGGGAGGGGG	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0080 a0001c0001t0032g0080	1	286	0.0035	-10	c.975 others(27): Show c.975+7333_975+7342delCCCCCTCCCC	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	3/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3814215	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00597.hp2 others(39): Show HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG01081.hp1 HG01099.hp1 HG01255.hp2 HG01433.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02257.hp2 HG02615.hp2 HG02895.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp1 HG03540.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18967.hp2 NA18980.hp2 NA18998.hp1 NA18999.hp1 NA19006.hp1 NA19006.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19086.hp2 NA19088.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0020 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0021 a0001c0001t0035 a0001c0001t0045 a0001c0001t0046 a0001c0003t0001 a0001c0003t0002 a0001c0003t0026 a0001c0004t0006 a0001c0005t0001 a0001c0020t0006 a0001c0021t0018	a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0033 others(39): Show a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0002g0043 a0001c0001t0002g0059 a0001c0001t0002g0126 a0001c0001t0002g0147 a0001c0001t0004g0041 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0278 a0001c0001t0008g0253 a0001c0001t0009g0069 a0001c0001t0010g0176 a0001c0001t0021g0028 a0001c0001t0021g0038 a0001c0001t0035g0155 a0001c0001t0045g0097 a0001c0001t0046g0247 a0001c0003t0001g0062 a0001c0003t0002g0067 a0001c0003t0002g0151 a0001c0003t0002g0188 a0001c0003t0026g0283 a0001c0004t0006g0230 a0001c0004t0006g0231 a0001c0005t0001g0205 a0001c0020t0006g0229 a0001c0021t0018g0224	42	286	0.1469	-10	c.799 others(27): Show c.799-3446_799-3437delCACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3817481	ACCTAACT others(3): Show ACCTAACTCCC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01109.hp2 others(12): Show HG00642.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01928.hp1 HG02559.hp2 HG02698.hp1 HG02698.hp2 HG02965.hp2 HG03017.hp1 HG03139.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0023 a0001c0001t0040 a0001c0001t0053 a0001c0023t0025	a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 others(12): Show a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0115 a0001c0001t0001g0168 a0001c0001t0002g0088 a0001c0001t0009g0069 a0001c0001t0023g0073 a0001c0001t0040g0071 a0001c0001t0053g0286 a0001c0023t0025g0282	15	286	0.0525	-10	c.799 others(27): Show c.799-6712_799-6703delGGGAGTTAGG	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3842967	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	286	0.0035	-10	c.798 others(27): Show c.798+7320_798+7329delTTTTTTTTTT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849378	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG03098.hp1 others(2): Show HG01243.hp2 HG02717.hp1 HG03098.hp1 HG03669.hp2 HG03927.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0008 a0001c0001t0052 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0052 a0003c0008t0007	a0001c0001t0001g0161 a0001c0001t0008g0259 a0001c0001t0052g0271 others(2): Show a0001c0001t0001g0161 a0001c0001t0008g0259 a0001c0001t0052g0271 a0003c0008t0007g0219 a0003c0008t0007g0220	5	286	0.0175	-10	c.798 others(25): Show c.798+909_798+918delACACACACAC	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3852035	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02145.hp1 others(6): Show HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02965.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03579.hp2 NA19240.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0004 a0001c0007 a0001c0011 others(4): Show a0001c0004 a0001c0007 a0001c0011 a0001c0027 a0004c0010 a0005c0019 a0006c0017	a0001c0004t0006 a0001c0007t0009 a0001c0007t0018 others(5): Show a0001c0004t0006 a0001c0007t0009 a0001c0007t0018 a0001c0011t0030 a0001c0027t0007 a0004c0010t0011 a0005c0019t0007 a0006c0017t0011	a0001c0004t0006g0228 a0001c0007t0009g0236 a0001c0007t0009g0237 others(6): Show a0001c0004t0006g0228 a0001c0007t0009g0236 a0001c0007t0009g0237 a0001c0007t0018g0225 a0001c0011t0030g0235 a0001c0027t0007g0007 a0004c0010t0011g0250 a0005c0019t0007g0008 a0006c0017t0011g0252	9	286	0.0315	-10	c.86- others(25): Show c.86-1036_86-1027delTTTTTTTTTT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	1/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3876399	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp2 HG02559.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0030 a0001c0001t0001 a0001c0011t0030	a0001c0001t0001g0046 a0001c0011t0030g0235 a0001c0001t0001g0046 a0001c0011t0030g0235	2	286	0.0070	-10	c.85+ others(25): Show c.85+3423_85+3432delTTTTTTTTTT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	1/30			chr16	TogoVar

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