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
CUX2_chr12_111029165_111355554	111330686	C C	CATATACA others(27): Show CATATACATATATATATATATATACATATACATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	100	0.0100	34	c.292 others(53): Show c.2927-3750_2927-3749insCATATATATATATATATACATATACA TATATATA	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CWC27_chr5_64763930_65023750	64799602	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18978.hp1 NA19056.hp2 others(2): Show HG03831.hp1 NA18978.hp1 NA19056.hp2 NA19060.hp2 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0228 a0002c0002t0002g0021 a0002c0002t0002g0040 others(2): Show a0002c0002t0001g0228 a0002c0002t0002g0021 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0068	5	260	0.0192	34	c.670 others(49): Show c.670-646_670-645insTATATATATATATATATATATATATATATA TATG	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	7/13			chr5	TogoVar
CWF19L2_chr11_107321360_107462825	107402871	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02723.hp1 HG03139.hp2 HG02148.hp1 HG02723.hp1 HG03139.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0332 a0004c0004t0002g0342 a0004c0004t0002g0347 a0004c0004t0002g0332 a0004c0004t0002g0342 a0004c0004t0002g0347	3	392	0.0077	34	c.161 others(53): Show c.1618-9977_1618-9976insTATATATATATATATATATATATATA TATATATA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03579.hp2 HG02647.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0361 a0002c0002t0003g0366 a0002c0002t0003g0361 a0002c0002t0003g0366	2	392	0.0051	34	c.161 others(53): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TATATATA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18941.hp2 NA18961.hp1 others(2): Show HG02602.hp2 NA18941.hp2 NA18961.hp1 NA18998.hp2 NA19065.hp2	a0003 a0003	a0003c0003 a0003c0014 a0003c0003 a0003c0014	a0003c0003t0002 a0003c0014t0002 a0003c0003t0002 a0003c0014t0002	a0003c0003t0002g0117 a0003c0003t0002g0291 a0003c0003t0002g0296 others(2): Show a0003c0003t0002g0117 a0003c0003t0002g0291 a0003c0003t0002g0296 a0003c0003t0002g0298 a0003c0014t0002g0289	5	392	0.0128	34	c.161 others(53): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA TATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWF19L2_chr11_107321360_107462825	107402873	G G	GTGTGTAT others(27): Show GTGTGTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0032 a0003c0003t0002g0032	1	392	0.0026	34	c.161 others(53): Show c.1618-9979_1618-9978insTATATATATATATATATATATATATA CATACACA	CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding	10/17			chr11	TogoVar
CWH43_chr4_48981275_49067079	49039306	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp1 HG02615.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0167 a0001c0001t0001g0168	2	296	0.0068	34	c.180 others(53): Show c.1803+1153_1803+1154insTATATATATATATATATATATATATA TATATATA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CWH43_chr4_48981275_49067079	49039320	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp2 others(13): Show HG00099.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG01175.hp2 HG01358.hp1 HG01496.hp1 HG01952.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03710.hp1 HG03927.hp2 NA18522.hp1 NA18971.hp1 NA19070.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002	a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0087 others(13): Show a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0087 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0001g0100 a0002c0002t0001g0108 a0002c0002t0001g0139 a0002c0002t0001g0142 a0003c0003t0001g0031 a0003c0003t0001g0034 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0158 a0003c0003t0001g0189 a0003c0003t0002g0157	16	296	0.0541	34	c.180 others(53): Show c.1803+1153_1803+1154insTATATATATATATATATACTGATATA TATATATA	CWH43	ENSG00000109182.12	transcript	ENST00000226432.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CXADR_chr21_17508043_17575100	17534060	C C	CTATATAT others(27): Show CTATATATATATATATATACACATATATATAGCTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01261.hp2 HG02976.hp2 HG01074.hp1 HG01261.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0043 a0001c0009t0075 a0001c0001t0001 a0001c0001t0043 a0001c0009t0075	a0001c0001t0001g0120 a0001c0001t0043g0119 a0001c0009t0075g0191 a0001c0001t0001g0120 a0001c0001t0043g0119 a0001c0009t0075g0191	3	352	0.0085	34	c.44- others(51): Show c.44-12957_44-12956insTATATATACACATATATATAGCTATATA TATATA	CXADR	ENSG00000154639.19	transcript	ENST00000284878.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
CXADR_chr21_17508043_17575100	17534069	T T	TATATACA others(27): Show TATATACACATATATATAGCTATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	352	0.0028	34	c.44- others(51): Show c.44-12957_44-12956insTATACACATATATATAGCTATATATATA TACACA	CXADR	ENSG00000154639.19	transcript	ENST00000284878.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGC others(27): Show GTGTGTGCGCGCTGCGCGCGCAAAGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	73	0.0137	34	c.-39 others(45): Show c.-3992_-3991insTGTGCGCGCGCTTTGCGCGCGCAGCGCGCACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(27): Show GTGTGTGTGTGCGCGCGCGCGCGAGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	73	0.0137	34	c.-39 others(45): Show c.-3992_-3991insTGTGCGCGCGCTCGCGCGCGCGCGCACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(27): Show GTGTGTGTGTGCGCGCGGCGCGGCGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	73	0.0137	34	c.-39 others(45): Show c.-3992_-3991insTGTGCGCGCGCGCCGCGCCGCGCGCACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGCGCGCGCGCACGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	73	0.0137	34	c.-39 others(45): Show c.-3992_-3991insTGTGCGCGCGCGTGCGCGCGCGCACACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	73	0.0137	34	c.-39 others(45): Show c.-3992_-3991insTGTGCGCGCGCGCGCGCGCGCGCACACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722142	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGCGTGCGCGCGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0014 a0009c0011t0001g0014	1	73	0.0137	34	c.-39 others(45): Show c.-3992_-3991insTGTGCGCGCGCACGCACACACACACACACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3858		chrX	TogoVar
CXorf49_chrX_71709371_71723285	71722146	G G	GTGTGTGT others(27): Show GTGTGTGTGCGCGCGCGTGCGCGCGCACATGTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	73	0.0137	34	c.-39 others(45): Show c.-3996_-3995insTGCACATGTGCGCGCGCACGCGCGCGCACACACA	CXorf49	ENSG00000215115.7	transcript	ENST00000535490.3	protein_coding		3862		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812146	C C	CATGTGTA others(27): Show CATGTGTATATATGTATGTACACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	34	c.20 others(45): Show c.2060_*2061insATGTGTATATATGTGTACATACATATATACACAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1959		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812146	C C	CATGTGTA others(27): Show CATGTGTATATATGTATGTACACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03927.hp2 HG03490.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	272	0.0074	34	c.18 others(45): Show c.1838_*1839insATGTGTATATATGTATGTACACATATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1736		chrX	TogoVar
CYB561D1_chr1_109489094_109505435	109503476	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	370	0.0027	34	c.72 others(45): Show c.7217_*7218insTATATATATATATATATATATATATATATATATA	CYB561D1	ENSG00000174151.15	transcript	ENST00000420578.7	protein_coding		3042		chr1	TogoVar
CYB561D1_chr1_109489094_109505435	109503502	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	370	0.0027	34	c.72 others(45): Show c.7243_*7244insTATATATATATATATATATATATATATATATATG	CYB561D1	ENSG00000174151.15	transcript	ENST00000420578.7	protein_coding		3068		chr1	TogoVar
CYB5A_chr18_74245846_74296963	74281743	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0064 a0001c0001t0005g0064	1	396	0.0025	34	c.129 others(53): Show c.129+10003_129+10004insCACACACACACACACACACACACACA CACACACA	CYB5A	ENSG00000166347.19	transcript	ENST00000340533.9	protein_coding	1/4			chr18	TogoVar
CYB5B_chr16_69419619_69471264	69440745	C C	CGTGTGTG others(27): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0161 a0001c0001t0032g0161	1	406	0.0025	34	c.175 others(51): Show c.175-6381_175-6380insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	CYB5B	ENSG00000103018.18	transcript	ENST00000307892.13	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
CYFIP1_chr15_22862052_22985368	22963506	T T	TAACATAA others(27): Show TAACATAACATAACATAACATAACATAACATAACA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0267 a0001c0002t0012g0267	1	342	0.0029	34	c.-6- others(51): Show c.-6-16249_-6-16216dupTGTTATGTTATGTTATGTTATGTTATGT TATGTT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYLC2_chr9_102990333_103023488	103014151	T T	TTAATATA others(27): Show TTAATATATAATATGAATATTATATATCTCATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02698.hp1 HG03471.hp2 others(1): Show HG01978.hp2 HG02698.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0009 a0001c0005t0042 a0001c0001t0002 a0001c0001t0009 a0001c0005t0042	a0001c0001t0002g0119 a0001c0001t0009g0207 a0001c0005t0042g0194 others(1): Show a0001c0001t0002g0119 a0001c0001t0009g0207 a0001c0005t0042g0194 a0001c0005t0042g0195	4	448	0.0089	34	c.81 others(53): Show c.816+2102_*816+2135dupGAATATTATATATCTCATATATAATA TATAATAT	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP26C1_chr10_93055798_93074540	93074485	G G	GGCTGCCT others(27): Show GGCTGCCTCTCTAACCTGCACGACTCCTCGCACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	398	0.0025	34	c.57 others(45): Show c.5788_*5789insGCTGCCTCTCTAACCTGCACGACTCCTCGCACAA	CYP26C1	ENSG00000187553.10	transcript	ENST00000651965.1	protein_coding		4946		chr10	TogoVar
CYP2A7_chr19_40870439_40887231	40880798	G G	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0193 a0003c0002t0004g0193	1	398	0.0025	34	c.344 others(49): Show c.344-204_344-171dupTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8			chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTCT others(27): Show CTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	374	0.0027	34	c.335 others(49): Show c.335-623_335-622insCTCTCTCTATATATATATATATATATATAT ATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2F1_chr19_41109432_41133381	41119723	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	374	0.0027	34	c.335 others(49): Show c.335-623_335-622insCTCTCTCTCTATATATATATATATATATAT ATAT	CYP2F1	ENSG00000197446.9	transcript	ENST00000331105.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2U1_chr4_107926549_107958461	107944839	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp1 others(52): Show HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00733.hp2 HG01255.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp2 HG01975.hp2 HG02004.hp1 HG02040.hp2 HG02148.hp1 HG02148.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02717.hp2 HG02738.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp2 NA18522.hp2 NA18946.hp2 NA18951.hp1 NA18959.hp2 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18981.hp1 NA18988.hp1 NA18992.hp1 NA18998.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19055.hp2 NA19058.hp2 NA19066.hp2 NA19086.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0002c0002t0002	a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0030 others(24): Show a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0077 a0001c0001t0002g0090 a0001c0001t0002g0099 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0004g0033 a0001c0001t0004g0060 a0001c0001t0005g0031 a0001c0001t0005g0052 a0002c0002t0002g0007	55	382	0.1440	34	c.491 others(49): Show c.491-119_491-118insATATATATATATATATATATATATATATAT ATAT	CYP2U1	ENSG00000155016.18	transcript	ENST00000332884.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP4B1_chr1_46794046_46824413	46800183	C C	CTTTCTCT others(27): Show CTTTCTCTTTCTTTCTTTCTCTTTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0007 a0012c0012t0007	a0012c0012t0007g0135 a0012c0012t0007g0135	1	400	0.0025	34	c.180 others(49): Show c.180+923_180+924insTTCTCTTTCTTTCTTTCTCTTTCTCTCTTT CTTT	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4B1_chr1_46794046_46824413	46816581	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0097 a0002c0002t0002g0097	1	400	0.0025	34	c.107 others(51): Show c.1074-443_1074-442insACACACACACACACACACACACACACAC ACACAC	CYP4B1	ENSG00000142973.16	transcript	ENST00000371923.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP4F22_chr19_15503525_15557317	15509947	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	384	0.0026	34	c.-10 others(53): Show c.-109+1365_-109+1366insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	CYP4F22	ENSG00000171954.13	transcript	ENST00000269703.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4X1_chr1_47018669_47055751	47036370	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03710.hp1 NA18959.hp2 HG02602.hp2 HG03710.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0082 a0001c0001t0001g0027 a0001c0001t0001g0082	3	350	0.0086	34	c.775 others(49): Show c.775+215_775+216insTATATATATATATATATATATATATATATA TATA	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP7B1_chr8_64585851_64803737	64643120	C C	CACATATA others(27): Show CACATATATATACATATATACACATATATATACAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp2 HG02572.hp1 others(1): Show HG01167.hp1 HG01891.hp2 HG02572.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0087 a0001c0001t0017g0177 a0001c0001t0017g0178 others(1): Show a0001c0001t0017g0087 a0001c0001t0017g0177 a0001c0001t0017g0178 a0001c0001t0017g0179	4	258	0.0155	34	c.123 others(53): Show c.123-18582_123-18581insATGTATATATATGTGTATATATGTAT ATATATGT	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64643190	T T	TACATATA others(27): Show TACATATATACATATATATACATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG04184.hp2 others(1): Show HG01884.hp2 HG02109.hp2 HG04184.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013	a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0005g0023 others(1): Show a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0005g0023 a0001c0001t0013g0022	4	258	0.0155	34	c.123 others(53): Show c.123-18652_123-18651insGTGTGTATATATATGTATATATATGT ATATATGT	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYRIA_chr2_16544459_16670834	16613558	T T	TTCTGCTA others(27): Show TTCTGCTATACTATATTGTATATTTCTGCTAAATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02280.hp2 HG02451.hp1 others(1): Show HG01934.hp2 HG02280.hp2 HG02451.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0044 a0001c0001t0003g0135 a0001c0001t0006g0055 others(1): Show a0001c0001t0001g0044 a0001c0001t0003g0135 a0001c0001t0006g0055 a0001c0001t0006g0258	4	290	0.0138	34	c.-11 others(53): Show c.-11+10305_-11+10306insTATTTAGCAGAAATATACAATATAGT ATAGCAGA	CYRIA	ENSG00000197872.11	transcript	ENST00000381323.7	protein_coding	2/11			chr2	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00639.hp2 others(19): Show HG00408.hp1 HG00423.hp2 HG00639.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01346.hp1 HG01433.hp1 HG01952.hp2 HG02015.hp1 HG02451.hp1 HG02622.hp1 HG02809.hp2 HG03130.hp2 HG03239.hp1 HG03704.hp1 HG04228.hp1 NA19002.hp1 NA19005.hp1 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0094 a0001c0001t0001g0120 others(19): Show a0001c0001t0001g0022 a0001c0001t0001g0094 a0001c0001t0001g0120 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0211 a0001c0001t0001g0281 a0001c0001t0006g0209 a0001c0001t0006g0250 a0001c0001t0012g0183 a0001c0002t0001g0185 a0001c0002t0001g0189	22	288	0.0764	34	c.-13 others(55): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930365	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00738.hp2 HG01361.hp1 others(2): Show HG00558.hp1 HG00738.hp2 HG01361.hp1 HG03041.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0196 a0001c0001t0002g0029 a0001c0001t0002g0131 others(2): Show a0001c0001t0001g0196 a0001c0001t0002g0029 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0177	5	288	0.0174	34	c.-13 others(55): Show c.-136-25781_-136-25780insTATATATATATATATATATATATA TATATATAAA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
CYRIB_chr8_129834593_130021560	129930379	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp2 HG02572.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0191 a0001c0001t0009g0204 a0001c0001t0009g0191 a0001c0001t0009g0204	2	288	0.0069	34	c.-13 others(55): Show c.-136-25795_-136-25794insAAAAAAAAAAAATATATATATATA TATATATATA	CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	2/13			chr8	TogoVar
D2HGDH_chr2_241729630_241773811	241741629	A A	ATGGGGCT others(27): Show ATGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0234 a0001c0001t0006g0234	1	412	0.0024	34	c.350 others(49): Show c.350+573_350+606dupGTGGGGCTTGCTGTCTCCAGGGTTTATTTC ATGT	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241741663	G G	GTGGGGCT others(27): Show GTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0284 a0001c0001t0003g0284	1	412	0.0024	34	c.350 others(49): Show c.350+641_351-671dupATGGGGCTTGCTGTCTCCAGGGTTTATTTC ATGT	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAAM1_chr14_59183667_59376403	59288832	G G	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0013 a0001c0003t0003g0014 a0001c0003t0003g0013 a0001c0003t0003g0014	2	298	0.0067	34	c.184 others(51): Show c.184-2356_184-2355insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAAM1_chr14_59183667_59376403	59289769	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0038 a0001c0003t0005g0038	1	298	0.0034	34	c.184 others(51): Show c.184-1433_184-1432insTATATATATATATATATACATATATATA TATATA	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
DAB1_chr1_56989778_57429060	57207446	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0055 a0001c0001t0021g0055	1	138	0.0073	34	c.68- others(51): Show c.68-62018_68-62017insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	2/14			chr1	TogoVar
DAB1_chr1_56989778_57429060	57226672	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	138	0.0073	34	c.67+ others(51): Show c.67+64291_67+64292insATATATATATATATATATATATATATAT ATATTT	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	2/14			chr1	TogoVar
DACH1_chr13_71432966_71872204	71519883	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	102	0.0098	34	c.157 others(55): Show c.1571-30736_1571-30735insTATATATATATATATATATATATA TATATATATA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10			chr13	TogoVar
DACH1_chr13_71432966_71872204	71735436	C C	CGGATATA others(27): Show CGGATATACGTGTATATGGGATATACACGTATACG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02683.hp1 HG02735.hp1 others(1): Show HG01433.hp1 HG02683.hp1 HG02735.hp1 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0002c0011	a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 a0002c0011t0003	a0001c0001t0001g0053 a0001c0009t0001g0030 a0002c0002t0001g0076 others(1): Show a0001c0001t0001g0053 a0001c0009t0001g0030 a0002c0002t0001g0076 a0002c0011t0003g0080	4	102	0.0392	34	c.849 others(53): Show c.849-53560_849-53527dupCGTATACGTGTATATCCCATATACAC GTATATCC	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH2_chrX_86143451_86837602	86147132	A A	ATATGTAT others(27): Show ATATGTATATGTGTGTATATATATGTATATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03516.hp2 HG02559.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0122 a0001c0001t0001g0123	2	166	0.0121	34	c.-14 others(45): Show c.-1489_-1488insTATGTATATGTGTGTATATATATGTATATGTGTG	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding		1318		chrX	TogoVar
DACH2_chrX_86143451_86837602	86254807	T T	TATATATA others(27): Show TATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	166	0.0060	34	c.488 others(55): Show c.488+105700_488+105701insTATATATATATATATATATAGAGA GAGAGAGAGA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar

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