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
CPLANE1_chr5_37101235_37254376	37154459	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02055.hp2 HG02280.hp1 others(7): Show HG00323.hp1 HG02055.hp2 HG02280.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02976.hp2 HG03098.hp1 HG03540.hp1 NA20129.hp2	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0001c0011 a0001c0022 others(2): Show a0001c0001 a0001c0011 a0001c0022 a0006c0005 a0010c0025	a0001c0001t0001 a0001c0001t0010 a0001c0011t0004 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0011t0004 a0001c0022t0004 a0006c0005t0002 a0010c0025t0001	a0001c0001t0001g0236 a0001c0001t0010g0235 a0001c0011t0004g0001 others(7): Show a0001c0001t0001g0236 a0001c0001t0010g0235 a0001c0011t0004g0001 a0001c0011t0004g0002 a0001c0011t0004g0003 a0001c0022t0004g0043 a0006c0005t0002g0248 a0006c0005t0002g0251 a0006c0005t0002g0253 a0010c0025t0001g0049	10	268	0.0373	16	c.812 others(33): Show c.8120-482_8120-467dupAAAAAAAAAAAAAAAA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	41/52			chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37187060	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0249 a0006c0005t0002g0249	1	268	0.0037	16	c.408 others(33): Show c.4080+338_4080+353dupTTTTTTTTTTTTTTTT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	23/52			chr5	TogoVar
CPLX1_chr4_779957_831129	826436	G G	GGGGCGGG others(9): Show GGGGCGGGGGTGGACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02451.hp2 NA18906.hp1 HG02258.hp1 HG02451.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0343 a0001c0001t0008g0344 a0001c0001t0008g0345 a0001c0001t0008g0343 a0001c0001t0008g0344 a0001c0001t0008g0345	3	416	0.0072	16	c.-47 others(25): Show c.-471_-470insGGGTCCACCCCCGCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		308		chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871415	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG02155.hp1 NA18941.hp1 others(4): Show HG01515.hp1 HG02155.hp1 NA18941.hp1 NA18945.hp2 NA19011.hp2 NA19054.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0022 a0001c0001t0057 others(1): Show a0001c0001t0009 a0001c0001t0022 a0001c0001t0057 a0001c0001t0059	a0001c0001t0009g0002 a0001c0001t0009g0028 a0001c0001t0022g0002 others(2): Show a0001c0001t0009g0002 a0001c0001t0009g0028 a0001c0001t0022g0002 a0001c0001t0057g0002 a0001c0001t0059g0012	7	378	0.0185	16	c.-37 others(25): Show c.-379_-378insAGAGAGAGAGAGAGAC	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		162		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03688.hp2 NA20805.hp1 HG02738.hp1 HG03688.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0032 a0001c0001t0003 a0001c0001t0032	a0001c0001t0003g0003 a0001c0001t0032g0003 a0001c0001t0003g0003 a0001c0001t0032g0003	3	378	0.0079	16	c.-36 others(25): Show c.-361_-360insAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871435	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp2 HG03486.hp2 others(1): Show HG02809.hp1 HG02809.hp2 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0026 a0001c0001t0044 others(1): Show a0001c0001t0008 a0001c0001t0026 a0001c0001t0044 a0001c0001t0056	a0001c0001t0008g0006 a0001c0001t0026g0026 a0001c0001t0044g0046 others(1): Show a0001c0001t0008g0006 a0001c0001t0026g0026 a0001c0001t0044g0046 a0001c0001t0056g0006	4	378	0.0106	16	c.-35 others(25): Show c.-359_-358insAGAGAGAGAGAGAGAA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		142		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871447	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0004 a0001c0001t0013g0004	1	378	0.0027	16	c.-34 others(25): Show c.-347_-346insAGAGAGAGAGAGAGAA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		130		chr5	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TTATATAT others(9): Show TTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0329 a0002c0003t0015g0329	1	340	0.0029	16	c.92 others(27): Show c.9225_*9240dupTATATATATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPNE3_chr8_86509435_86566498	86527946	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03704.hp2 HG01109.hp2 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0141 a0002c0003t0002g0144 a0001c0001t0002g0141 a0002c0003t0002g0144	2	340	0.0059	16	c.-10 others(31): Show c.-10-580_-10-565dupTTTTTTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86552962	G G	GCCCCCCC others(9): Show GCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp2 HG01928.hp2 others(5): Show HG01496.hp1 HG01496.hp2 HG01928.hp2 HG02273.hp2 HG02615.hp1 HG03017.hp1 NA18973.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0002t0001 a0001c0001t0001 a0001c0001t0020 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0094 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0129 a0001c0001t0001g0207 a0001c0001t0020g0007 a0001c0002t0001g0324	8	340	0.0235	16	c.112 others(35): Show c.1120+1729_1120+1744dupCCCCCCCCCCCCCCCC	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131586726	A A	ATCTATCT others(9): Show ATCTATCTATCTGTCTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	94	0.0106	16	c.780 others(31): Show c.780+757_780+758insCAGACAGATAGATAGA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	8/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131708957	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02896.hp1 HG03516.hp2 others(5): Show HG01496.hp2 HG02896.hp1 HG03516.hp2 NA18946.hp1 NA18960.hp1 NA18990.hp1 NA19007.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0011 a0001c0001t0001g0053 a0001c0001t0002g0090 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0053 a0001c0001t0002g0090 a0001c0001t0003g0037 a0001c0001t0006g0003 a0001c0001t0007g0004 a0001c0002t0001g0046 a0001c0002t0003g0061	8	94	0.0851	16	c.361 others(33): Show c.361-8993_361-8978dupATATATATATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131708995	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0071 a0001c0003t0002g0071	1	94	0.0106	16	c.361 others(33): Show c.361-9016_361-9015insGTATATATATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131737115	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp2 HG04228.hp1 others(1): Show HG02258.hp1 HG03516.hp2 HG04228.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0041 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0041 a0001c0002t0001g0048	4	94	0.0426	16	c.181 others(35): Show c.181-13506_181-13491dupAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792925	G G	GTGTGTGT others(9): Show GTGTGTGTATATCTATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp2 HG02486.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0088 a0001c0004t0001g0055 a0001c0001t0002g0088 a0001c0004t0001g0055	2	94	0.0213	16	c.181 others(35): Show c.181-69301_181-69300insTATAGATATACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792925	G G	GTGTGTGT others(9): Show GTGTGTGTGTATCTATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp2 HG03225.hp1 others(3): Show HG02258.hp1 HG03098.hp2 HG03225.hp1 HG03516.hp1 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010 a0001c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0003t0001g0019 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0003t0001g0019 a0001c0003t0002g0071 a0001c0003t0010g0087 a0001c0004t0001g0007	6	94	0.0638	16	c.181 others(35): Show c.181-69301_181-69300insTATAGATACACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801452	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19083.hp2 NA18990.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0003 a0001c0001t0007g0004 a0001c0001t0006g0003 a0001c0001t0007g0004	2	94	0.0213	16	c.181 others(35): Show c.181-77843_181-77828dupTATATATATATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801452	G G	GTGTATAT others(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03041.hp1 HG02735.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0038 a0001c0003t0001g0018 a0001c0001t0003g0038 a0001c0003t0001g0018	2	94	0.0213	16	c.181 others(35): Show c.181-77828_181-77827insTATATATATATATACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131911543	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	94	0.0106	16	c.-1- others(31): Show c.-1-6115_-1-6100dupCACACACACACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131928241	T T	TTATACCA others(9): Show TTATACCATAATTAATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp1 NA19030.hp1 others(1): Show HG02559.hp2 HG03225.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0003t0010	a0001c0001t0001g0060 a0001c0001t0002g0075 a0001c0001t0008g0066 others(1): Show a0001c0001t0001g0060 a0001c0001t0002g0075 a0001c0001t0008g0066 a0001c0003t0010g0087	4	94	0.0426	16	c.-1- others(33): Show c.-1-22813_-1-22798dupCATTAATTATGGTATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131955410	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18522.hp2 HG04228.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0005g0084 a0001c0003t0001g0005 a0001c0001t0005g0084 a0001c0003t0001g0005	2	94	0.0213	16	c.-1- others(33): Show c.-1-49982_-1-49967dupAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978384	A A	ATATTTAT others(9): Show ATATTTATATATATATT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	94	0.0106	16	c.-2+ others(33): Show c.-2+56182_-2+56183insAATATATATATAAATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131999241	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	94	0.0106	16	c.-2+ others(33): Show c.-2+35310_-2+35325dupTTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36768225	C C	CTTTTTTT others(9): Show CTTTTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	380	0.0026	16	c.738 others(33): Show c.738-2850_738-2849insAAAAAAAAGAAAAAAA	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	10/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36768225	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18949.hp2 NA19010.hp2 HG00544.hp2 NA18949.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0141 a0001c0001t0003g0379 a0001c0001t0003g0129 a0001c0001t0003g0141 a0001c0001t0003g0379	3	380	0.0079	16	c.738 others(33): Show c.738-2865_738-2850dupAAAAAAAAAAAAAAAA	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	10/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36777766	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	380	0.0026	16	c.632 others(33): Show c.632+1072_632+1087dupTGTGTGTGTGTGTGTG	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	9/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36834254	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp1 HG02109.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0061 a0001c0002t0005g0060 a0001c0001t0001g0061 a0001c0002t0005g0060	2	380	0.0053	16	c.95+ others(31): Show c.95+5013_95+5028dupTTTTTTTTTTTTTTTT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	1/20			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89587755	A A	ACCCACAG others(9): Show ACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	348	0.0029	16	c.927 others(31): Show c.927+656_927+657insACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587819	A A	ACCCACAG others(9): Show ACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	348	0.0029	16	c.927 others(31): Show c.927+720_927+721insACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587819	A A	AGCCACAG others(9): Show AGCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0107 a0001c0005t0002g0107	1	348	0.0029	16	c.927 others(31): Show c.927+717_927+718insGCCACAGATACACGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587883	A A	ACCCACAG others(9): Show ACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19084.hp1 NA18990.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0120 a0002c0004t0002g0304 a0001c0001t0001g0120 a0002c0004t0002g0304	2	348	0.0058	16	c.927 others(31): Show c.927+784_927+785insACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587883	A A	AGCCACAG others(9): Show AGCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0107 a0001c0005t0002g0107	1	348	0.0029	16	c.927 others(31): Show c.927+781_927+782insGCCACAGATACACGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587920	A A	ACCCACAG others(9): Show ACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02080.hp2 others(4): Show HG01257.hp2 HG01258.hp2 HG02080.hp2 HG03831.hp1 NA18940.hp1 NA18962.hp1 NA19070.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0005t0002 a0003c0006t0003	a0001c0001t0001g0214 a0001c0002t0003g0206 a0001c0002t0004g0155 others(3): Show a0001c0001t0001g0214 a0001c0002t0003g0206 a0001c0002t0004g0155 a0001c0005t0002g0002 a0003c0006t0003g0145 a0003c0006t0003g0230	7	348	0.0201	16	c.928 others(31): Show c.928-752_928-751insACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587920	A A	AGCCACAG others(9): Show AGCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0016 a0002c0004t0002g0016	1	348	0.0029	16	c.928 others(31): Show c.928-755_928-754insGCCACAGATACACGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588038	A A	ACCCACAG others(9): Show ACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02145.hp2 NA18979.hp2 HG00438.hp1 HG02145.hp2 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0005t0002 a0002c0004t0002 a0001c0001t0001 a0001c0005t0002 a0002c0004t0002	a0001c0001t0001g0068 a0001c0005t0002g0302 a0002c0004t0002g0016 a0001c0001t0001g0068 a0001c0005t0002g0302 a0002c0004t0002g0016	3	348	0.0086	16	c.928 others(31): Show c.928-634_928-633insACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588128	A A	ACCCACAG others(9): Show ACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02132.hp2 HG03017.hp2 others(4): Show HG02129.hp2 HG02132.hp2 HG03017.hp2 HG03486.hp1 NA18943.hp1 NA18944.hp1 NA18998.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0002c0003t0003	a0001c0001t0001g0185 a0001c0001t0001g0213 a0001c0002t0003g0076 others(4): Show a0001c0001t0001g0185 a0001c0001t0001g0213 a0001c0002t0003g0076 a0001c0002t0003g0180 a0001c0002t0004g0225 a0001c0002t0004g0226 a0002c0003t0003g0208	7	348	0.0201	16	c.928 others(31): Show c.928-544_928-543insACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588128	A A	AGCCACAG others(9): Show AGCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18946.hp1 HG02273.hp1 NA18946.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0006 a0001c0005 a0003c0006	a0001c0005t0002 a0003c0006t0003 a0001c0005t0002 a0003c0006t0003	a0001c0005t0002g0107 a0003c0006t0003g0274 a0001c0005t0002g0107 a0003c0006t0003g0274	2	348	0.0058	16	c.928 others(31): Show c.928-547_928-546insGCCACAGATACACGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588165	A A	ACCCACAG others(9): Show ACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18943.hp1 NA19012.hp1 others(1): Show NA18940.hp1 NA18943.hp1 NA19012.hp1 NA19074.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0006 a0002c0003 a0003c0006	a0002c0003t0003 a0003c0006t0003 a0002c0003t0003 a0003c0006t0003	a0002c0003t0003g0130 a0002c0003t0003g0208 a0003c0006t0003g0145 others(1): Show a0002c0003t0003g0130 a0002c0003t0003g0208 a0003c0006t0003g0145 a0003c0006t0003g0147	4	348	0.0115	16	c.928 others(31): Show c.928-507_928-506insACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588165	A A	AGCCACAG others(9): Show AGCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	348	0.0029	16	c.928 others(31): Show c.928-510_928-509insGCCACAGATACACGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588202	A A	AGCCACAG others(9): Show AGCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0107 a0001c0005t0002g0107	1	348	0.0029	16	c.928 others(31): Show c.928-473_928-472insGCCACAGATACACGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597790	C C	CCCCCGCC others(9): Show CCCCCGCCCACCCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0310 a0001c0005t0002g0310	1	348	0.0029	16	c.11 others(27): Show c.1169_*1170insCCCCGCCCACCCATCT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		545		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597975	T T	TCCATCCA others(9): Show TCCATCCATCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0290 a0001c0002t0003g0290	1	348	0.0029	16	c.13 others(27): Show c.1354_*1355insCCATCCATCCCCCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		730		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598090	A A	ATCCCCCC others(9): Show ATCCCCCCACCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0001 a0005c0026t0001	a0005c0026t0001g0017 a0005c0026t0001g0017	1	348	0.0029	16	c.14 others(27): Show c.1469_*1470insTCCCCCCACCCACCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		845		chr16	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(9): Show GTATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02155.hp1 HG00735.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0097 a0001c0001t0001g0107	2	342	0.0059	16	c.915 others(33): Show c.915-1906_915-1905insTATACACATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(9): Show GTATATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02109.hp2 HG02647.hp1 others(3): Show HG01167.hp2 HG02109.hp2 HG02647.hp1 HG03130.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 others(3): Show a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0015g0157	6	342	0.0175	16	c.915 others(33): Show c.915-1906_915-1905insTACACACATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717427	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01070.hp1 others(10): Show HG00280.hp1 HG00642.hp1 HG01070.hp1 HG01515.hp2 HG01928.hp2 HG02486.hp1 HG04228.hp1 NA18946.hp2 NA18949.hp2 NA19002.hp1 NA19011.hp2 NA19012.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0001t0022	a0001c0001t0001g0096 a0001c0001t0001g0115 a0001c0001t0001g0290 others(10): Show a0001c0001t0001g0096 a0001c0001t0001g0115 a0001c0001t0001g0290 a0001c0001t0003g0207 a0001c0001t0004g0040 a0001c0001t0004g0254 a0001c0001t0004g0259 a0001c0001t0004g0291 a0001c0001t0004g0326 a0001c0001t0006g0205 a0001c0001t0007g0224 a0001c0001t0018g0286 a0001c0001t0022g0288	13	342	0.0380	16	c.914 others(33): Show c.914+6344_914+6345insTATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717429	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02809.hp2 NA19072.hp2 HG00741.hp1 HG02809.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0237 a0001c0001t0003g0305 a0001c0001t0006g0302 a0001c0001t0001g0237 a0001c0001t0003g0305 a0001c0001t0006g0302	3	342	0.0088	16	c.914 others(33): Show c.914+6327_914+6342dupTATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717429	G G	GTGTATAT others(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01256.hp2 HG01258.hp1 others(11): Show HG01074.hp1 HG01256.hp2 HG01258.hp1 HG02155.hp1 HG02717.hp2 HG03453.hp1 HG03492.hp2 HG06807.hp2 NA18953.hp1 NA18970.hp2 NA18982.hp2 NA19002.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0011 a0001c0001t0001g0092 a0001c0001t0001g0093 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0241 a0001c0001t0013g0298	14	342	0.0409	16	c.914 others(33): Show c.914+6342_914+6343insTATATATATATATACA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717458	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	342	0.0029	16	c.914 others(33): Show c.914+6313_914+6314insGTATATATATATATAT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760435	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02723.hp1 HG03540.hp2 others(2): Show HG00642.hp2 HG02723.hp1 HG03540.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0002t0028 a0001c0001t0005 a0001c0002t0002 a0001c0002t0028	a0001c0001t0005g0313 a0001c0001t0005g0324 a0001c0002t0002g0041 others(2): Show a0001c0001t0005g0313 a0001c0001t0005g0324 a0001c0002t0002g0041 a0001c0002t0002g0296 a0001c0002t0028g0285	5	342	0.0146	16	c.722 others(31): Show c.722+396_722+411dupTATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar

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