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
CPLX2_chr5_175866578_175889021	175871456	A A	AGAGAGAG others(19): Show AGAGAGAGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02071.hp1 HG02523.hp2 HG01261.hp2 HG02071.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	378	0.0079	26	c.-33 others(35): Show c.-338_-337insGAGAGAGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		121		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 NA18939.hp2 HG01261.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0052 a0001c0001t0002 a0001c0001t0052	a0001c0001t0002g0013 a0001c0001t0052g0002 a0001c0001t0002g0013 a0001c0001t0052g0002	2	378	0.0053	26	c.-33 others(35): Show c.-336_-335insGAGAGAGAGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		119		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGAG others(19): Show AGAGAGAGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 NA18942.hp2 NA18955.hp1 others(1): Show HG00621.hp2 NA18942.hp2 NA18955.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0029 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0003g0016	4	378	0.0106	26	c.-33 others(35): Show c.-336_-335insGAGAGAGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		119		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871462	A A	AGAGAGAG others(19): Show AGAGAGAGAAAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0053 a0001c0001t0047g0053	1	378	0.0027	26	c.-33 others(35): Show c.-332_-331insGAGAGAGAAAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		115		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871462	A A	AGAGAGAG others(19): Show AGAGAGAGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0008 a0001c0001t0020g0008	1	378	0.0027	26	c.-33 others(35): Show c.-332_-331insGAGAGAGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		115		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871464	A A	AGAGAGAG others(19): Show AGAGAGAGAAAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03195.hp2 NA18906.hp2 others(1): Show HG03017.hp1 HG03195.hp2 NA18906.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0040	a0001c0001t0001g0004 a0001c0001t0004g0004 a0001c0001t0013g0004 others(1): Show a0001c0001t0001g0004 a0001c0001t0004g0004 a0001c0001t0013g0004 a0001c0001t0040g0004	4	378	0.0106	26	c.-33 others(35): Show c.-330_-329insGAGAGAGAAAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		113		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871464	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA19084.hp2 HG02027.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0043 a0001c0001t0014g0052 a0001c0001t0004g0043 a0001c0001t0014g0052	2	378	0.0053	26	c.-33 others(35): Show c.-330_-329insGAGAGAGAGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		113		chr5	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG01099.hp2 others(16): Show HG00558.hp1 HG00609.hp1 HG01099.hp2 HG01106.hp2 HG01261.hp2 HG02015.hp1 HG02055.hp1 HG02155.hp1 HG02630.hp2 HG02896.hp1 HG03130.hp2 HG03669.hp1 HG03834.hp2 HG03927.hp2 NA18949.hp2 NA19076.hp1 NA19084.hp1 NA19091.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0004c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0053 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0053 a0001c0002t0001 a0001c0002t0003 a0001c0006t0037 a0002c0003t0026 a0004c0013t0004	a0001c0001t0001g0074 a0001c0001t0001g0129 a0001c0001t0001g0186 others(16): Show a0001c0001t0001g0074 a0001c0001t0001g0129 a0001c0001t0001g0186 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0004g0229 a0001c0001t0053g0243 a0001c0002t0001g0081 a0001c0002t0001g0105 a0001c0002t0001g0120 a0001c0002t0001g0197 a0001c0002t0001g0284 a0001c0002t0001g0307 a0001c0002t0003g0272 a0001c0006t0037g0224 a0002c0003t0026g0319 a0004c0013t0004g0027	19	340	0.0559	26	c.92 others(37): Show c.9240_*9241insTATATATATATATATATATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPN2_chr3_194334768_194356328	194347634	C C	CCCCATCC others(19): Show CCCCATCCTCTGCCCAGTTCAGCCCAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02698.hp1 HG01168.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0190 a0002c0002t0003g0198 a0002c0002t0003g0190 a0002c0002t0003g0198	2	440	0.0046	26	c.-4+ others(41): Show c.-4+3607_-4+3608insTTGGGCTGAACTGGGCAGAGGATGGG	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1			chr3	TogoVar
CPNE3_chr8_86509435_86566498	86527946	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp2 HG02486.hp1 HG03041.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0006 a0003c0004 a0004c0006	a0003c0004t0007 a0004c0006t0011 a0003c0004t0007 a0004c0006t0011	a0003c0004t0007g0168 a0004c0006t0011g0167 a0003c0004t0007g0168 a0004c0006t0011g0167	2	340	0.0059	26	c.-10 others(41): Show c.-10-565_-10-564insTTTTTTTTTTTTTTTTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131955410	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0045 a0001c0003t0003g0045	1	94	0.0106	26	c.-1- others(43): Show c.-1-49967_-1-49966insAAAAAAAAAAAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131960120	T T	TGGAGAGG others(19): Show TGGAGAGGGAGGGAGGAGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp2 HG02258.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0011 a0001c0001t0001g0021	2	94	0.0213	26	c.-1- others(43): Show c.-1-54702_-1-54677dupTCCCTCCCTCTCCTCCCTCCCTCTCC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132039884	C C	CCACTCCA others(19): Show CCACTCCAGTAACCACATGACAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	94	0.0106	26	c.-53 others(37): Show c.-5320_-5319insTGGATTGTCATGTGGTTACTGGAGTG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding		4871		chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587718	A A	ACCCGCGT others(19): Show ACCCGCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0006 a0001c0013t0002g0006	1	348	0.0029	26	c.927 others(41): Show c.927+619_927+620insGCGTGTCACCCACAGATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587767	C C	CCCACAGA others(19): Show CCCACAGATACACGGCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0010 a0001c0008t0002g0010	1	348	0.0029	26	c.927 others(41): Show c.927+672_927+673insTACACGGCCCCCGTGTCAGCCACAGA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587887	G G	GCGTGTCA others(19): Show GCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG03098.hp2 HG00280.hp1 HG00544.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0002t0004 a0001c0007t0006 a0001c0002t0002 a0001c0002t0004 a0001c0007t0006	a0001c0002t0002g0196 a0001c0002t0004g0150 a0001c0007t0006g0165 a0001c0002t0002g0196 a0001c0002t0004g0150 a0001c0007t0006g0165	3	348	0.0086	26	c.928 others(41): Show c.928-777_928-752dupACAGATACACGGCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587932	C C	CCCACAGA others(19): Show CCCACAGATACACGGCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0324 a0002c0004t0002g0324	1	348	0.0029	26	c.928 others(41): Show c.928-724_928-723insGTGTCAGCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587947	C C	CCCCCCGT others(19): Show CCCCCCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01496.hp2 others(6): Show HG01070.hp2 HG01071.hp1 HG01496.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02148.hp2 HG02293.hp1 HG02300.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0005 a0010c0018 a0001c0001 a0001c0005 a0010c0018	a0001c0001t0001 a0001c0005t0002 a0010c0018t0002 a0001c0001t0001 a0001c0005t0002 a0010c0018t0002	a0001c0001t0001g0248 a0001c0005t0002g0003 a0001c0005t0002g0193 others(5): Show a0001c0001t0001g0248 a0001c0005t0002g0003 a0001c0005t0002g0193 a0001c0005t0002g0212 a0001c0005t0002g0240 a0001c0005t0002g0247 a0001c0005t0002g0250 a0010c0018t0002g0246	9	348	0.0259	26	c.928 others(41): Show c.928-719_928-718insCACCCACAGATACACGGCCCCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587985	C C	CCCACAGA others(19): Show CCCACAGATACACGGCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0002 a0001c0005t0002g0002	2	348	0.0058	26	c.928 others(41): Show c.928-671_928-670insGTGTCAGCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588042	G G	GCGTGTCA others(19): Show GCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0155 a0001c0002t0004g0155	1	348	0.0029	26	c.928 others(41): Show c.928-631_928-606dupGTGTCACCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588132	G G	GCGTGTCA others(19): Show GCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03579.hp2 HG02572.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0001 a0001c0015t0001 a0001c0002t0001 a0001c0015t0001	a0001c0002t0001g0029 a0001c0015t0001g0330 a0001c0002t0001g0029 a0001c0015t0001g0330	2	348	0.0058	26	c.928 others(41): Show c.928-532_928-507dupACAGATACACGGCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588140	C C	CCCACAGA others(19): Show CCCACAGATACATGGCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0325 a0001c0002t0004g0325	1	348	0.0029	26	c.928 others(41): Show c.928-524_928-523insTGGCCCCCGTGTCAGCCACAGATACA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588177	C C	CCCACAGA others(19): Show CCCACAGATACACGGCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	348	0.0029	26	c.928 others(41): Show c.928-473_928-472insGCCACAGATACACGGCCCCCGTGTCA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(19): Show GCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00733.hp2 others(24): Show HG00544.hp2 HG00558.hp2 HG00733.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01346.hp2 HG01361.hp1 HG01517.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02300.hp2 HG03471.hp1 HG03540.hp1 NA18612.hp2 NA18940.hp1 NA18943.hp1 NA18946.hp1 NA18959.hp1 NA18966.hp1 NA19009.hp1 NA19011.hp2 NA19074.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0006 a0006c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0002c0003t0003 a0002c0004t0002 a0003c0006t0003 a0006c0014t0001	a0001c0001t0001g0051 a0001c0001t0001g0095 a0001c0001t0001g0184 others(24): Show a0001c0001t0001g0051 a0001c0001t0001g0095 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0221 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0281 a0001c0001t0001g0339 a0001c0002t0001g0025 a0001c0002t0002g0046 a0001c0002t0002g0204 a0001c0002t0002g0254 a0001c0002t0002g0316 a0001c0002t0003g0290 a0001c0002t0004g0225 a0001c0002t0004g0226 a0001c0002t0004g0237 a0001c0002t0004g0325 a0002c0003t0003g0207 a0002c0003t0003g0208 a0002c0004t0002g0319 a0003c0006t0003g0145 a0003c0006t0003g0147 a0003c0006t0003g0274 a0003c0006t0003g0275 a0006c0014t0001g0008	27	348	0.0776	26	c.928 others(41): Show c.928-458_928-433dupACAGATACACGGCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588212	C C	CACCCACA others(19): Show CACCCACAGATACACGGCCCCCGTGTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0128 a0002c0003t0003g0128	1	348	0.0029	26	c.928 others(41): Show c.928-438_928-437insTACCCACAGATACACGGCCCCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588214	C C	CCCACAGA others(19): Show CCCACAGATACACGGCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	348	0.0029	26	c.928 others(41): Show c.928-436_928-435insGCCACAGATACACGGCCCCCGTGTCA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(19): Show GTATATATATGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02015.hp1 HG02486.hp2 others(9): Show HG00639.hp1 HG02015.hp1 HG02486.hp2 HG02809.hp1 HG02896.hp1 HG03041.hp1 NA18939.hp1 NA18941.hp2 NA18961.hp2 NA18981.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0007 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0001t0007 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0004t0002	a0001c0001t0007g0335 a0001c0001t0007g0336 a0001c0001t0007g0337 others(9): Show a0001c0001t0007g0335 a0001c0001t0007g0336 a0001c0001t0007g0337 a0001c0001t0007g0338 a0001c0001t0007g0339 a0001c0002t0002g0062 a0001c0002t0002g0071 a0001c0002t0002g0247 a0001c0002t0002g0263 a0001c0002t0004g0066 a0001c0002t0008g0216 a0001c0004t0002g0074	12	342	0.0351	26	c.915 others(43): Show c.915-1906_915-1905insTATATATATATATACACATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38704832	A A	ATATGTGT others(19): Show ATATGTGTATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0215	1	342	0.0029	26	c.915 others(43): Show c.915-1912_915-1911insCACATATATATATATATATACACATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717427	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA18906.hp1 HG00735.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0252 a0001c0001t0006g0101 a0001c0001t0004g0252 a0001c0001t0006g0101	2	342	0.0059	26	c.914 others(43): Show c.914+6344_914+6345insTATATATATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717429	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	342	0.0029	26	c.914 others(43): Show c.914+6342_914+6343insTATATATATATATATATATATATACA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717429	G G	GTGTATGT others(19): Show GTGTATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	342	0.0029	26	c.914 others(43): Show c.914+6342_914+6343insTATATATATATATATATATACATACA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717458	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	342	0.0029	26	c.914 others(43): Show c.914+6313_914+6314insGTATATATATATATATATATATATAT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760435	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03130.hp2 HG02809.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0327 a0001c0001t0007g0338 a0001c0001t0001g0327 a0001c0001t0007g0338	2	342	0.0059	26	c.722 others(41): Show c.722+411_722+412insTATATATATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE9_chr3_9698833_9734908	9725628	A A	ATGTATAT others(19): Show ATGTATATACATGTATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA20300.hp2 HG02896.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0375 a0001c0001t0001g0378 a0001c0001t0001g0375 a0001c0001t0001g0378	2	440	0.0046	26	c.124 others(43): Show c.1242-312_1242-287dupCATGTATGTGTATATATGTGTATATA	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPO_chr2_206934518_206974474	206943686	A A	AGATAGAT others(19): Show AGATAGATAGATAGATAATGGATAGAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	422	0.0024	26	c.68+ others(41): Show c.68+4035_68+4036insATGGATAGATGATAGATAGATAGATA	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPO_chr2_206934518_206974474	206970738	T T	TTTCCTCC others(19): Show TTTCCTCCTCCTCCGTTGTTGTTGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0241 a0010c0013t0001g0241	1	422	0.0024	26	c.13 others(37): Show c.1302_*1303insTTCCTCCTCCTCCGTTGTTGTTGTTG	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding		1265		chr2	TogoVar
CPPED1_chr16_12654799_12808887	12766242	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	290	0.0035	26	c.289 others(45): Show c.289+14942_289+14943insATATATATATATATATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPQ_chr8_96640242_97148501	96730866	C C	CATACATA others(19): Show CATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	126	0.0079	26	c.-34 others(45): Show c.-34-53995_-34-53994insCATATATATATATATATATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96730866	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02717.hp2 HG03453.hp1 HG01261.hp2 HG02717.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0002t0001g0040 a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0002t0001g0040	3	126	0.0238	26	c.-34 others(45): Show c.-34-53997_-34-53972dupATATATATATATATATATATATATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96737355	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	126	0.0079	26	c.-34 others(45): Show c.-34-47495_-34-47494insATATATATATATATATATATATATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96854530	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	126	0.0079	26	c.641 others(45): Show c.641+19354_641+19379dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF2_chr14_92116969_92177145	92165854	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0125 a0001c0001t0068g0125	1	388	0.0026	26	c.41 others(37): Show c.4135_*4136insTTTTTTTTTTTTTTTTTTTTTTTTTT	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	16/16	4136	INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(19): Show ATATATATATATATATGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	364	0.0028	26	c.103 others(43): Show c.103+1490_103+1491insATATATATATATATGTTTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPT1A_chr11_68749883_68846916	68829845	C C	CAAAAAAA others(19): Show CAAAAAAAAAACAAAAAAAAACAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01243.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0030 a0001c0001t0019 a0001c0001t0030	a0001c0001t0019g0002 a0001c0001t0030g0019 a0001c0001t0019g0002 a0001c0001t0030g0019	2	236	0.0085	26	c.-14 others(45): Show c.-14+11929_-14+11930insTTTTTGTTTTTTTTTGTTTTTTTTTT	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18			chr11	TogoVar
CPT1A_chr11_68749883_68846916	68838572	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18977.hp1 HG02523.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0163 a0001c0001t0001g0164	2	236	0.0085	26	c.-14 others(43): Show c.-14+3202_-14+3203insTTTTTTTTTTTTTTTTTTTTTTTTTT	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18			chr11	TogoVar
CPT1C_chr19_49686116_49718731	49702025	T T	TAAATATA others(19): Show TAAATATATATTTATTTATAAATTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00609.hp1 others(30): Show HG00099.hp2 HG00280.hp1 HG00609.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG02071.hp2 HG02083.hp2 HG02145.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02809.hp2 HG03669.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp2 NA18906.hp2 NA18964.hp1 NA18967.hp1 NA18995.hp1 NA19003.hp2 NA19005.hp2 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0012t0001	a0001c0001t0001g0014 a0001c0001t0001g0081 a0001c0001t0001g0082 others(29): Show a0001c0001t0001g0014 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0137 a0001c0001t0001g0175 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0236 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0003g0087 a0001c0001t0003g0100 a0001c0001t0003g0116 a0001c0012t0001g0221	33	350	0.0943	26	c.693 others(41): Show c.693+391_693+392insAAATATATATTTATTTATAAATTATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19			chr19	TogoVar
CPT1C_chr19_49686116_49718731	49702025	T T	TAAATATA others(19): Show TAAATATATATTTATTTATAATTTATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp1 NA18522.hp1 HG02630.hp1 HG02970.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0102 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0102	3	350	0.0086	26	c.693 others(41): Show c.693+391_693+392insAAATATATATTTATTTATAATTTATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19			chr19	TogoVar
CR1L_chr1_207640133_207728703	207643914	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03130.hp2 HG02809.hp2 HG03130.hp2	a0018 a0026 a0018 a0026	a0018c0021 a0026c0031 a0018c0021 a0026c0031	a0018c0021t0001 a0026c0031t0001 a0018c0021t0001 a0026c0031t0001	a0018c0021t0001g0268 a0026c0031t0001g0263 a0018c0021t0001g0268 a0026c0031t0001g0263	2	346	0.0058	26	c.-13 others(37): Show c.-1320_-1319insTATATATATATATATATATATATATA	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding		1218		chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0169 a0004c0004t0001g0169	1	360	0.0028	26	c.689 others(43): Show c.6890-563_6890-562insATATATATATATATATATATATATGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617507	A A	ATATATAT others(19): Show ATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0352 a0005c0005t0002g0352	1	360	0.0028	26	c.689 others(43): Show c.6890-563_6890-562insATATATATATATATATATATATGTGT	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar

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