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
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG02572.hp2 others(1): Show HG00639.hp1 HG00741.hp2 HG02572.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0129 a0001c0001t0001g0192 a0001c0001t0001g0231 others(1): Show a0001c0001t0001g0129 a0001c0001t0001g0192 a0001c0001t0001g0231 a0001c0002t0001g0175	4	286	0.0140	14	c.462 others(33): Show c.462+62903_462+62916dupATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62121371	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp2 HG03471.hp1 HG02109.hp2 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0258	3	286	0.0105	14	c.463 others(33): Show c.463-14447_463-14434dupAAAAAAAAAAAAAA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62139053	G G	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	286	0.0035	14	c.31 others(25): Show c.3112_*3113insGAGAGAGAGAGAGA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding		2996		chr2	TogoVar
COMMD7_chr20_32697699_32748467	32705376	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp1 HG02280.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	2	400	0.0050	14	c.337 others(29): Show c.337-473_337-472insAAAAAATATATATA	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	5/8			chr20	TogoVar
COMMD8_chr4_47445787_47468702	47447372	G G	GACACACA others(7): Show GACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(26): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00621.hp1 HG01074.hp1 HG01192.hp2 HG01884.hp2 HG02273.hp1 HG02273.hp2 HG02602.hp2 HG03209.hp2 HG03579.hp2 HG03710.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp2 NA18945.hp1 NA18949.hp1 NA18985.hp2 NA18994.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19083.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0136 a0005c0007t0001g0098	29	396	0.0732	14	c.42 others(25): Show c.4272_*4273insGTGTGTGTGTGTGT	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding		3414		chr4	TogoVar
COMMD9_chr11_36267292_36294424	36270136	C C	CGAGAGAG others(7): Show CGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0150	1	448	0.0022	14	c.44 others(25): Show c.4495_*4496insTCTCTCTCTCTCTC	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2155		chr11	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(7): Show TAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02280.hp1 NA20129.hp1 HG02055.hp2 HG02280.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162	3	448	0.0067	14	c.44 others(25): Show c.4481_*4494dupCTCTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COMP_chr19_18777773_18796305	18787864	C C	CTTTTTCT others(7): Show CTTTTTCTTTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(54): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02735.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18952.hp2 NA18960.hp2 NA18971.hp1 NA18977.hp2 NA18980.hp1 NA18984.hp1 NA18986.hp1 NA19000.hp1 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19067.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0012 others(1): Show a0001c0001 a0001c0006 a0001c0012 a0002c0002	a0001c0001t0001 a0001c0006t0001 a0001c0012t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0001c0012t0001 a0002c0002t0002	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(25): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0006t0001g0172 a0001c0012t0001g0167 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0150	57	398	0.1432	14	c.976 others(29): Show c.976-215_976-214insAAGAAAAAGAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	9/18			chr19	TogoVar
COMTD1_chr10_75228641_75240957	75232740	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02109.hp1 HG02293.hp1 others(9): Show HG01928.hp2 HG02109.hp1 HG02293.hp1 HG02293.hp2 HG03688.hp2 HG04115.hp1 NA18947.hp1 NA18951.hp2 NA18956.hp2 NA18999.hp1 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	12	410	0.0293	14	c.13 others(25): Show c.1332_*1333insAAAAAAAAAAAAAA	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		900		chr10	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATACATA others(7): Show AATACATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0098 a0001c0001t0010g0098	1	300	0.0033	14	c.213 others(33): Show c.2134-4199_2134-4198insATATATATATGTAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02622.hp1 others(2): Show HG01069.hp1 HG01071.hp1 HG02622.hp1 HG02723.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0011 a0001c0001t0001 a0001c0002t0011	a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0080 others(2): Show a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0002t0011g0267	5	300	0.0167	14	c.213 others(33): Show c.2134-4212_2134-4199dupATATATATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00639.hp1 others(27): Show HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01361.hp2 HG01891.hp2 HG01943.hp1 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02735.hp2 HG02976.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp2 NA18946.hp1 NA18961.hp1 NA18990.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0002 a0005c0007 others(2): Show a0001c0001 a0001c0002 a0005c0007 a0006c0008 a0007c0009	a0001c0001t0001 a0001c0002t0002 a0005c0007t0001 others(2): Show a0001c0001t0001 a0001c0002t0002 a0005c0007t0001 a0006c0008t0001 a0007c0009t0001	a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0085 others(27): Show a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0197 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0002t0002g0023 a0005c0007t0001g0215 a0006c0008t0001g0260 a0007c0009t0001g0247	30	300	0.1000	14	c.213 others(33): Show c.2134-8541_2134-8528dupTGTGTGTGTGTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175972483	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0268 a0001c0006t0012g0268	1	300	0.0033	14	c.213 others(35): Show c.2133+14459_2133+14460insTAAAAAAAAAAAAA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175976270	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	300	0.0033	14	c.213 others(35): Show c.2133+10659_2133+10672dupAAAAAAAAAAAAAA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175998063	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03540.hp1 HG02559.hp1 HG03540.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0036 a0006c0008t0001g0260 a0001c0001t0001g0036 a0006c0008t0001g0260	2	300	0.0067	14	c.173 others(33): Show c.1730-8598_1730-8585dupTTTTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	15/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176028696	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01109.hp1 others(26): Show HG00741.hp1 HG01074.hp1 HG01109.hp1 HG01257.hp1 HG01261.hp1 HG01981.hp2 HG01993.hp2 HG02280.hp1 HG02572.hp1 HG02622.hp2 HG02735.hp1 HG02895.hp2 HG02897.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp2 NA18954.hp2 NA18970.hp2 NA18990.hp1 NA19005.hp1 NA19056.hp1 NA19062.hp1 NA19066.hp2 NA19084.hp2 NA20129.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0001c0002 a0003c0004 others(2): Show a0001c0001 a0001c0002 a0003c0004 a0005c0007 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0002t0002 a0003c0004t0001 a0005c0007t0001 a0007c0009t0001	a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 others(26): Show a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0099 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0169 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0001g0251 a0001c0001t0003g0284 a0001c0001t0003g0292 a0001c0001t0003g0298 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0274 a0001c0001t0010g0098 a0001c0002t0002g0003 a0001c0002t0002g0010 a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0023 a0001c0002t0002g0024 a0003c0004t0001g0226 a0003c0004t0001g0227 a0005c0007t0001g0215 a0007c0009t0001g0247	29	300	0.0967	14	c.161 others(33): Show c.1613-1022_1613-1009dupATATATATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	14/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176127561	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01928.hp2 HG01934.hp2 others(1): Show HG01496.hp2 HG01928.hp2 HG01934.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 others(1): Show a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0297	4	300	0.0133	14	c.968 others(31): Show c.968+7435_968+7448dupCACACACACACACA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176143123	C C	CGAGAGAG others(7): Show CGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01934.hp1 HG02572.hp2 others(10): Show HG00099.hp1 HG01934.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02965.hp2 HG03130.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 NA18954.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0135 others(10): Show a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0188 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0279 a0001c0001t0005g0275 a0001c0001t0005g0276	13	300	0.0433	14	c.831 others(31): Show c.831+5869_831+5882dupTCTCTCTCTCTCTC	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	6/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176165361	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02886.hp1 NA18957.hp2 others(1): Show HG02004.hp2 HG02886.hp1 NA18957.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0092 a0001c0001t0001g0094	4	300	0.0133	14	c.566 others(31): Show c.566-1484_566-1471dupACACACACACACAC	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	3/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176173986	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03704.hp1 HG02735.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0271 a0001c0001t0004g0272	2	300	0.0067	14	c.565 others(31): Show c.565+1910_565+1923dupTTTTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	3/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176174007	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02572.hp1 HG02004.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0092 a0001c0001t0001g0062 a0001c0001t0001g0092	2	300	0.0067	14	c.565 others(31): Show c.565+1902_565+1903insCTTTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	3/19			chr1	TogoVar
COPB1_chr11_14452512_14504811	14454637	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01071.hp1 others(30): Show HG00280.hp2 HG01070.hp1 HG01071.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01516.hp1 HG02015.hp1 HG02040.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02647.hp1 HG02717.hp1 HG02895.hp2 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03669.hp2 NA18612.hp1 NA18959.hp2 NA18997.hp1 NA19030.hp2 NA20300.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0006 a0001c0001 a0001c0004 a0004c0006	a0001c0001t0001 a0001c0004t0001 a0004c0006t0001 a0001c0001t0001 a0001c0004t0001 a0004c0006t0001	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 others(28): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0236 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0004t0001g0264 a0004c0006t0001g0178	33	386	0.0855	14	c.31 others(25): Show c.3173_*3186dupTTTTTTTTTTTTTT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding		2874		chr11	TogoVar
COPB1_chr11_14452512_14504811	14477389	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	386	0.0026	14	c.135 others(31): Show c.1359-388_1359-375dupTTTTTTTTTTTTTT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	11/21			chr11	TogoVar
COPG1_chr3_129244606_129282773	129247132	G G	GTGCGGAC others(7): Show GTGCGGACAGGTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG02015.hp2 others(23): Show HG00408.hp1 HG00544.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02165.hp1 HG02738.hp1 HG03669.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp2 NA18939.hp1 NA18950.hp2 NA18955.hp2 NA18966.hp1 NA18972.hp2 NA18990.hp2 NA19001.hp2 NA19043.hp2 NA19066.hp1 NA19074.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0002t0002 a0001c0007t0002 a0001c0002t0001 a0001c0002t0002 a0001c0007t0002	a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0002g0005 others(15): Show a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0002g0005 a0001c0002t0002g0027 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0002t0002g0074 a0001c0007t0002g0060 a0001c0007t0002g0064 a0001c0007t0002g0066 a0001c0007t0002g0069	26	326	0.0798	14	c.-25 others(25): Show c.-2578_-2577insTGCGGACAGGTACA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2473		chr3	TogoVar
COPG2_chr7_130501238_130673748	130513308	A A	AAAAAATA others(7): Show AAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	326	0.0031	14	c.215 others(33): Show c.2150-4650_2150-4649insATATATATATTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130513308	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	326	0.0031	14	c.215 others(33): Show c.2150-4663_2150-4650dupATATATATATATAT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130513323	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00621.hp2 others(30): Show HG00099.hp1 HG00597.hp1 HG00621.hp2 HG01070.hp2 HG01071.hp1 HG01243.hp2 HG02004.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02280.hp1 HG02559.hp1 HG02647.hp1 HG02735.hp2 HG02886.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG04115.hp1 HG06807.hp1 NA18944.hp2 NA18982.hp1 NA18994.hp2 NA19063.hp2 NA19091.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0008 a0001c0002 a0003c0008	a0001c0002t0001 a0001c0002t0004 a0003c0008t0001 a0001c0002t0001 a0001c0002t0004 a0003c0008t0001	a0001c0002t0001g0019 a0001c0002t0001g0032 a0001c0002t0001g0033 others(30): Show a0001c0002t0001g0019 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0069 a0001c0002t0001g0090 a0001c0002t0004g0056 a0003c0008t0001g0114	33	326	0.1012	14	c.215 others(33): Show c.2150-4665_2150-4664insCACACACACACACA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130513341	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	326	0.0031	14	c.215 others(33): Show c.2150-4683_2150-4682insCATATATATATATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130513341	A A	ATATATAT others(7): Show ATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03927.hp1 HG02572.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0131 a0001c0001t0004g0249 a0001c0001t0004g0131 a0001c0001t0004g0249	2	326	0.0061	14	c.215 others(33): Show c.2150-4683_2150-4682insCACATATATATATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130513341	A A	ATATATAT others(7): Show ATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	326	0.0031	14	c.215 others(33): Show c.2150-4683_2150-4682insCACACATATATATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130523119	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp2 HG02922.hp1 others(2): Show HG02572.hp1 HG02818.hp2 HG02922.hp1 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0262 a0001c0001t0001g0263 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265	5	326	0.0153	14	c.215 others(35): Show c.2150-14474_2150-14461dupTTTTTTTTTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130659354	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(112): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG01069.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp1 NA18969.hp2 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18992.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA20129.hp2 NA20300.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0005 a0001c0006 others(4): Show a0001c0001 a0001c0005 a0001c0006 a0001c0012 a0003c0004 a0004c0011 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0005t0002 a0001c0006t0002 a0001c0012t0002 a0003c0004t0001 a0004c0011t0001 a0005c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 others(112): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0148 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0260 a0001c0001t0002g0272 a0001c0001t0004g0267 a0001c0001t0004g0293 a0001c0001t0004g0324 a0001c0001t0005g0254 a0001c0001t0005g0258 a0001c0001t0006g0168 a0001c0001t0006g0172 a0001c0001t0006g0178 a0001c0001t0006g0182 a0001c0001t0006g0226 a0001c0001t0009g0256 a0001c0001t0010g0001 a0001c0005t0002g0010 a0001c0005t0002g0011 a0001c0006t0002g0153 a0001c0006t0002g0154 a0001c0012t0002g0166 a0003c0004t0001g0277 a0003c0004t0001g0297 a0004c0011t0001g0280 a0005c0010t0001g0147	115	326	0.3528	14	c.243 others(31): Show c.243+3599_243+3612dupTTTTTTTTTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	4/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130659356	A A	AAAAAAAA others(7): Show AAAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02809.hp1 NA18906.hp2 others(1): Show HG01433.hp2 HG02809.hp1 NA18906.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0241 a0002c0003t0001g0242 a0002c0003t0001g0243 others(1): Show a0001c0002t0001g0241 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244	4	326	0.0123	14	c.243 others(31): Show c.243+3610_243+3611insGTTTGTTTTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	4/23			chr7	TogoVar
COPS2_chr15_49117727_49160599	49146989	C C	CACCTCTA others(7): Show CACCTCTACCTCTCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0199 a0001c0001t0018g0199	1	398	0.0025	14	c.55- others(29): Show c.55-1912_55-1911insAGAGAGGTAGAGGT	COPS2	ENSG00000166200.15	transcript	ENST00000388901.10	protein_coding	1/12			chr15	TogoVar
COPS3_chr17_17241616_17286246	17271881	T T	TAATAATA others(7): Show TAATAATATATATTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(203): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(166): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0002g0028 a0001c0001t0002g0218 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0237 a0001c0002t0004g0114 a0001c0003t0001g0190 a0001c0004t0001g0143	206	352	0.5852	14	c.186 others(29): Show c.186-887_186-874dupTAATATATATTATT	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	2/11			chr17	TogoVar
COPS4_chr4_83030183_83080818	83072465	T T	TTATGCTT others(7): Show TTATGCTTTATTTCC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	372	0.0027	14	c.108 others(33): Show c.1088-2831_1088-2830insATGCTTTATTTCCT	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
COPS7A_chr12_6719046_6736865	6733399	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 NA20129.hp1 HG02451.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0041	2	474	0.0042	14	c.23 others(25): Show c.2360_*2361insAAAAAAAAAAAAAG	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding		1535		chr12	TogoVar
COPS7B_chr2_231781445_231814253	231808798	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0153 a0001c0001t0033g0153	1	348	0.0029	14	c.11 others(25): Show c.1184_*1197dupGTGTGTGTGTGTGT	COPS7B	ENSG00000144524.18	transcript	ENST00000350033.8	protein_coding	7/7	1198	INFO_REALIGN_3_PRIME	chr2	TogoVar
COPS9_chr2_240125828_240141305	240139551	A A	AAGGGGAA others(7): Show AAGGGGAAGAGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02886.hp1 HG02145.hp1 HG02257.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0039 a0001c0001t0001g0010 a0001c0001t0001g0039	3	442	0.0068	14	c.-32 others(25): Show c.-3281_-3268dupCCCTCTCTTCCCCT	COPS9	ENSG00000172428.11	transcript	ENST00000607357.2	protein_coding		3247		chr2	TogoVar
COPZ1_chr12_54320131_54356846	54322342	G G	GCCAATGA others(7): Show GCCAATGACAACCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	368	0.0027	14	c.-28 others(25): Show c.-2822_-2821insCCAATGACAACCCA	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		2788		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54323668	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	368	0.0027	14	c.-14 others(25): Show c.-1496_-1495insTTTCTTTCTTTCTT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		1462		chr12	TogoVar
COPZ1_chr12_54320131_54356846	54326640	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	368	0.0027	14	c.18+ others(29): Show c.18+1486_18+1499dupGTGTGTGTGTGTGT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
COPZ1_chr12_54320131_54356846	54355327	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	368	0.0027	14	c.48 others(25): Show c.4804_*4805insGTGTGTGTGTGTGT	COPZ1	ENSG00000111481.10	transcript	ENST00000262061.7	protein_coding		3482		chr12	TogoVar
COQ10A_chr12_56261942_56275966	56266280	A A	ATAAATAA others(7): Show ATAAATAAATAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18942.hp2 NA18947.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	332	0.0090	14	c.-83 others(23): Show c.-839_-838insTAAATAAATAAAAG	COQ10A	ENSG00000135469.14	transcript	ENST00000308197.10	protein_coding		661		chr12	TogoVar
COQ2_chr4_83258824_83289798	83276070	T T	TATATATA others(7): Show TATATATAATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03225.hp2 NA19043.hp1 HG02280.hp2 HG03225.hp2 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0013 a0002c0003 a0002c0013	a0002c0003t0001 a0002c0013t0001 a0002c0003t0001 a0002c0013t0001	a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0013t0001g0054 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0013t0001g0054	3	344	0.0087	14	c.421 others(31): Show c.421-2467_421-2454dupTATATATTATATAT	COQ2	ENSG00000173085.15	transcript	ENST00000647002.2	protein_coding	2/6			chr4	TogoVar
COQ5_chr12_120498279_120534158	120526698	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02148.hp2 HG02257.hp1 others(1): Show HG02132.hp2 HG02148.hp2 HG02257.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0289 a0002c0003t0001g0297 a0002c0003t0001g0317 others(1): Show a0002c0003t0001g0289 a0002c0003t0001g0297 a0002c0003t0001g0317 a0002c0003t0001g0322	4	388	0.0103	14	c.202 others(31): Show c.202+2228_202+2241dupAAAAAAAAAAAAAA	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ5_chr12_120498279_120534158	120527988	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA18985.hp1 HG01069.hp2 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0110 a0001c0002t0002g0111	2	388	0.0052	14	c.202 others(29): Show c.202+938_202+951dupTTTTTTTTTTTTTT	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	1/6			chr12	TogoVar
COQ7_chr16_19062614_19085095	19064341	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0055 a0002c0003t0002g0055	1	372	0.0027	14	c.-33 others(25): Show c.-3324_-3323insTGTGTGTGTGTGTG	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding		3272		chr16	TogoVar
COQ7_chr16_19062614_19085095	19064343	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG03139.hp1 HG00423.hp2 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0010 a0002c0003t0002g0049 a0002c0003t0002g0010 a0002c0003t0002g0049	2	372	0.0054	14	c.-33 others(25): Show c.-3322_-3321insTGTGTGTGTGTGTG	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding		3270		chr16	TogoVar
COQ7_chr16_19062614_19085095	19064345	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02109.hp2 HG02486.hp1 others(5): Show HG01975.hp2 HG02109.hp2 HG02486.hp1 HG02717.hp1 HG03017.hp2 HG03579.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0010 a0002c0002t0003 a0002c0003t0002 a0001c0001t0010 a0002c0002t0003 a0002c0003t0002	a0001c0001t0010g0097 a0002c0002t0003g0014 a0002c0002t0003g0072 others(5): Show a0001c0001t0010g0097 a0002c0002t0003g0014 a0002c0002t0003g0072 a0002c0002t0003g0081 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0016 a0002c0003t0002g0025	8	372	0.0215	14	c.-33 others(25): Show c.-3320_-3319insTGTGTGTGTGTGTG	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding		3268		chr16	TogoVar

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