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
COL6A6_chr3_130512177_130682042	130590299	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0009 a0009	a0009c0005 a0009c0005	a0009c0005t0002 a0009c0005t0002	a0009c0005t0002g0062 a0009c0005t0002g0062	1	264	0.0038	11	c.421 others(28): Show c.4219-722_4219-712dupTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130636787	T T	TCCCCTCC others(4): Show TCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG03453.hp2 HG02572.hp1 HG02615.hp1 HG03453.hp2	a0021 a0033 a0021 a0033	a0021c0030 a0033c0077 a0021c0030 a0033c0077	a0021c0030t0001 a0021c0030t0004 a0033c0077t0001 a0021c0030t0001 a0021c0030t0004 a0033c0077t0001	a0021c0030t0001g0156 a0021c0030t0004g0103 a0033c0077t0001g0148 a0021c0030t0001g0156 a0021c0030t0004g0103 a0033c0077t0001g0148	3	264	0.0114	11	c.509 others(30): Show c.5091+1048_5091+1058dupCCCCCTCCCCT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130636845	C C	CCCCTATC others(4): Show CCCCTATCCCCT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	264	0.0038	11	c.509 others(30): Show c.5091+1084_5091+1085insCCCTATCCCCT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36			chr3	TogoVar
COL6A6_chr3_130512177_130682042	130673219	A A	ACAAAAAA others(4): Show ACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0191 a0006c0007t0001g0191	1	264	0.0038	11	c.659 others(30): Show c.6597-1983_6597-1982insCAAAAAAAAAC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	36/36			chr3	TogoVar
COL6A6_chr3_130512177_130682042	130673220	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG03041.hp1 HG02622.hp1 HG02647.hp2 HG03041.hp1	a0006 a0018 a0024 a0006 a0018 a0024	a0006c0015 a0018c0033 a0024c0031 a0006c0015 a0018c0033 a0024c0031	a0006c0015t0012 a0018c0033t0025 a0024c0031t0012 a0006c0015t0012 a0018c0033t0025 a0024c0031t0012	a0006c0015t0012g0033 a0018c0033t0025g0192 a0024c0031t0012g0025 a0006c0015t0012g0033 a0018c0033t0025g0192 a0024c0031t0012g0025	3	264	0.0114	11	c.659 others(30): Show c.6597-1973_6597-1972insACAAAAAAAAA	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	36/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130673220	A A	AAAAAAAA others(4): Show AAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01169.hp1 others(22): Show HG00738.hp2 HG01167.hp1 HG01169.hp1 HG01257.hp1 HG01891.hp1 HG01943.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp2 HG03579.hp2 HG03831.hp2 NA18522.hp1 NA18522.hp2 NA18952.hp1 NA18966.hp2 NA18971.hp1 NA18982.hp2 NA18995.hp2 NA18998.hp1 NA19043.hp1 NA19083.hp2 NA19240.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0018 a0020 a0033	a0001c0001 a0002c0002 a0002c0049 others(10): Show a0001c0001 a0002c0002 a0002c0049 a0003c0010 a0003c0061 a0003c0070 a0004c0004 a0006c0007 a0007c0018 a0008c0006 a0018c0033 a0020c0025 a0033c0077	a0001c0001t0005 a0002c0002t0007 a0002c0049t0003 others(16): Show a0001c0001t0005 a0002c0002t0007 a0002c0049t0003 a0003c0010t0001 a0003c0061t0015 a0003c0070t0002 a0004c0004t0003 a0004c0004t0005 a0004c0004t0009 a0006c0007t0001 a0006c0007t0002 a0006c0007t0003 a0006c0007t0005 a0007c0018t0003 a0008c0006t0004 a0008c0006t0027 a0018c0033t0001 a0020c0025t0002 a0033c0077t0001	a0001c0001t0005g0061 a0002c0002t0007g0228 a0002c0049t0003g0189 others(22): Show a0001c0001t0005g0061 a0002c0002t0007g0228 a0002c0049t0003g0189 a0003c0010t0001g0181 a0003c0061t0015g0196 a0003c0070t0002g0035 a0004c0004t0003g0119 a0004c0004t0005g0043 a0004c0004t0009g0247 a0004c0004t0009g0254 a0006c0007t0001g0194 a0006c0007t0002g0029 a0006c0007t0003g0130 a0006c0007t0005g0052 a0007c0018t0003g0015 a0008c0006t0004g0226 a0008c0006t0004g0230 a0008c0006t0004g0241 a0008c0006t0004g0242 a0008c0006t0004g0243 a0008c0006t0027g0232 a0018c0033t0001g0193 a0020c0025t0002g0027 a0020c0025t0002g0028 a0033c0077t0001g0148	25	264	0.0947	11	c.659 others(30): Show c.6597-1972_6597-1971insCAAAAAAAAAC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	36/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130673221	A A	AAAAAAAA others(4): Show AAAAAAAAACCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00639.hp1 others(60): Show HG00408.hp2 HG00597.hp2 HG00639.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG01943.hp2 HG01975.hp2 HG02055.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04199.hp1 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18966.hp1 NA18968.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18988.hp1 NA18998.hp2 NA19005.hp2 NA19030.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19083.hp1 NA19087.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0012 a0014 a0017 a0022 a0024 a0028 a0029 a0030 a0032 a0039 a0040 a0043 a0044 a0045 a0047	a0001c0001 a0002c0002 a0002c0051 others(25): Show a0001c0001 a0002c0002 a0002c0051 a0003c0010 a0003c0013 a0003c0023 a0005c0003 a0006c0007 a0006c0063 a0007c0018 a0007c0081 a0007c0083 a0008c0006 a0012c0009 a0014c0011 a0017c0019 a0022c0024 a0024c0031 a0028c0042 a0029c0085 a0030c0043 a0032c0079 a0039c0064 a0040c0066 a0043c0046 a0044c0052 a0045c0050 a0047c0048	a0001c0001t0007 a0002c0002t0003 a0002c0002t0005 others(35): Show a0001c0001t0007 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0022 a0002c0051t0007 a0003c0010t0003 a0003c0010t0009 a0003c0013t0003 a0003c0013t0005 a0003c0023t0003 a0005c0003t0003 a0006c0007t0003 a0006c0007t0007 a0006c0063t0023 a0007c0018t0007 a0007c0018t0009 a0007c0081t0013 a0007c0083t0005 a0008c0006t0003 a0012c0009t0003 a0012c0009t0005 a0014c0011t0003 a0017c0019t0003 a0017c0019t0009 a0022c0024t0005 a0022c0024t0018 a0024c0031t0003 a0028c0042t0003 a0029c0085t0007 a0030c0043t0003 a0032c0079t0003 a0039c0064t0005 a0040c0066t0003 a0043c0046t0003 a0044c0052t0005 a0045c0050t0005 a0047c0048t0003	a0001c0001t0007g0090 a0002c0002t0003g0004 a0002c0002t0003g0108 others(60): Show a0001c0001t0007g0090 a0002c0002t0003g0004 a0002c0002t0003g0108 a0002c0002t0003g0116 a0002c0002t0003g0134 a0002c0002t0003g0149 a0002c0002t0003g0158 a0002c0002t0003g0162 a0002c0002t0003g0171 a0002c0002t0003g0186 a0002c0002t0005g0042 a0002c0002t0005g0070 a0002c0002t0005g0076 a0002c0002t0005g0100 a0002c0002t0007g0201 a0002c0002t0022g0165 a0002c0051t0007g0238 a0003c0010t0003g0006 a0003c0010t0003g0007 a0003c0010t0003g0261 a0003c0010t0009g0251 a0003c0010t0009g0252 a0003c0010t0009g0253 a0003c0013t0003g0262 a0003c0013t0005g0044 a0003c0013t0005g0045 a0003c0023t0003g0022 a0005c0003t0003g0014 a0006c0007t0003g0260 a0006c0007t0007g0092 a0006c0007t0007g0093 a0006c0063t0023g0168 a0007c0018t0007g0245 a0007c0018t0009g0257 a0007c0081t0013g0080 a0007c0083t0005g0048 a0008c0006t0003g0122 a0008c0006t0003g0180 a0012c0009t0003g0136 a0012c0009t0003g0147 a0012c0009t0003g0159 a0012c0009t0003g0170 a0012c0009t0005g0054 a0012c0009t0005g0063 a0012c0009t0005g0104 a0012c0009t0005g0106 a0014c0011t0003g0178 a0014c0011t0003g0179 a0017c0019t0003g0127 a0017c0019t0009g0258 a0022c0024t0005g0037 a0022c0024t0018g0097 a0024c0031t0003g0016 a0028c0042t0003g0118 a0029c0085t0007g0239 a0030c0043t0003g0143 a0032c0079t0003g0160 a0039c0064t0005g0085 a0040c0066t0003g0175 a0043c0046t0003g0024 a0044c0052t0005g0060 a0045c0050t0005g0067 a0047c0048t0003g0120	63	264	0.2386	11	c.659 others(30): Show c.6597-1972_6597-1971insCCAAAAAAAAC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	36/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A2_chr1_36090239_36130222	36100887	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0027 a0002c0003t0009g0027	1	390	0.0026	11	c.-16 others(26): Show c.-16-640_-16-630dupAAAAAAAAAAA	COL8A2	ENSG00000171812.13	transcript	ENST00000397799.2	protein_coding	2/3			chr1	TogoVar
COL9A1_chr6_70211126_70308084	70215912	A A	ACACACAC others(4): Show ACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03927.hp2 HG02145.hp1 HG03927.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0261 a0003c0003t0001g0031 a0002c0002t0001g0261 a0003c0003t0001g0031	2	362	0.0055	11	c.98 others(20): Show c.984_*985insGTGTGTGTGTG	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding		213		chr6	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18971.hp1 NA19077.hp2 NA18962.hp1 NA18971.hp1 NA19077.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0038 a0003c0006t0003g0078 a0003c0006t0003g0090 a0003c0006t0003g0038 a0003c0006t0003g0078 a0003c0006t0003g0090	3	362	0.0083	11	c.250 others(30): Show c.2504-1426_2504-1416dupTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70267319	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0322 a0004c0009t0001g0322	1	362	0.0028	11	c.128 others(28): Show c.1288-550_1288-549insAAAAAAAAAAA	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	17/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70267327	G G	GGTTTTTT others(4): Show GGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01169.hp2 others(6): Show HG00741.hp1 HG01167.hp1 HG01169.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG03471.hp1 NA20129.hp1	a0002 a0002	a0002c0004 a0002c0008 a0002c0004 a0002c0008	a0002c0004t0004 a0002c0008t0005 a0002c0004t0004 a0002c0008t0005	a0002c0004t0004g0246 a0002c0004t0004g0274 a0002c0008t0005g0009 others(5): Show a0002c0004t0004g0246 a0002c0004t0004g0274 a0002c0008t0005g0009 a0002c0008t0005g0332 a0002c0008t0005g0334 a0002c0008t0005g0337 a0002c0008t0005g0338 a0002c0008t0005g0339	9	362	0.0249	11	c.128 others(28): Show c.1288-558_1288-557insAAAAAAAAAAC	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	17/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70267327	G G	GTTTTGTT others(4): Show GTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0053 a0003c0003t0002g0053	1	362	0.0028	11	c.128 others(28): Show c.1288-558_1288-557insAAAAAACAAAA	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	17/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70267327	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(35): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG02155.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 NA18955.hp1 NA18970.hp2 NA18972.hp2 NA18991.hp2 NA19003.hp2 NA19062.hp1 NA19075.hp2 NA20129.hp2	a0003 a0005 a0011 others(2): Show a0003 a0005 a0011 a0012 a0017	a0003c0003 a0003c0006 a0003c0013 others(4): Show a0003c0003 a0003c0006 a0003c0013 a0005c0005 a0011c0024 a0012c0025 a0017c0035	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(10): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0007 a0003c0006t0003 a0003c0013t0003 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0006 a0011c0024t0001 a0012c0025t0001 a0017c0035t0001	a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0041 others(35): Show a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0094 a0003c0003t0001g0114 a0003c0003t0001g0231 a0003c0003t0001g0289 a0003c0003t0001g0293 a0003c0003t0001g0328 a0003c0003t0002g0043 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0052 a0003c0003t0002g0060 a0003c0003t0002g0127 a0003c0003t0004g0054 a0003c0003t0004g0271 a0003c0003t0007g0349 a0003c0003t0007g0350 a0003c0006t0003g0026 a0003c0006t0003g0027 a0003c0006t0003g0073 a0003c0013t0003g0197 a0003c0013t0003g0198 a0005c0005t0001g0108 a0005c0005t0001g0119 a0005c0005t0001g0133 a0005c0005t0001g0150 a0005c0005t0001g0255 a0005c0005t0001g0260 a0005c0005t0002g0015 a0005c0005t0002g0248 a0005c0005t0003g0247 a0005c0005t0006g0345 a0011c0024t0001g0244 a0012c0025t0001g0282 a0017c0035t0001g0152	38	362	0.1050	11	c.128 others(28): Show c.1288-568_1288-558dupAAAAAAAAAAA	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	17/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70279648	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA21309.hp2 HG02257.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0022 a0002c0002 a0002c0022	a0002c0002t0001 a0002c0022t0001 a0002c0002t0001 a0002c0022t0001	a0002c0002t0001g0058 a0002c0022t0001g0281 a0002c0002t0001g0058 a0002c0022t0001g0281	2	362	0.0055	11	c.975 others(28): Show c.975+1153_975+1163dupTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	10/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0139 a0002c0002t0001g0053 a0002c0002t0001g0139	2	438	0.0046	11	c.-11 others(22): Show c.-1118_-1117insATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321122	A A	AATTATAT others(4): Show AATTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02451.hp2 HG02976.hp2 others(7): Show HG00673.hp2 HG02451.hp2 HG02976.hp2 NA18906.hp1 NA18978.hp1 NA18985.hp2 NA19058.hp1 NA19084.hp2 NA19086.hp2 NA20905.hp2	a0001 a0002 a0024 others(1): Show a0001 a0002 a0024 a0025	a0001c0001 a0002c0002 a0024c0029 others(1): Show a0001c0001 a0002c0002 a0024c0029 a0025c0013	a0001c0001t0001 a0002c0002t0001 a0024c0029t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0024c0029t0001 a0025c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0060 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0141 a0001c0001t0001g0177 a0001c0001t0001g0180 a0002c0002t0001g0029 a0024c0029t0001g0144 a0025c0013t0001g0140	10	438	0.0228	11	c.-39 others(22): Show c.-3926_-3925insATATATATAAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321167	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	438	0.0023	11	c.-39 others(22): Show c.-3971_-3970insATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3882		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119102300	C C	CTTTTATT others(4): Show CTTTTATTTTAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01123.hp2 others(23): Show HG00099.hp1 HG01099.hp2 HG01123.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01943.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG03195.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 NA18957.hp1 NA19056.hp2 NA19081.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0008 a0001c0001t0005g0192 a0001c0001t0005g0193 others(22): Show a0001c0001t0005g0008 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0212 a0001c0001t0005g0219 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0225 a0001c0001t0005g0228 a0001c0001t0005g0235 a0001c0001t0005g0341 a0001c0001t0005g0370 a0001c0001t0012g0221	26	388	0.0670	11	c.293 others(24): Show c.293-37_293-27dupATTTTATTTTA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC12_chr18_311737_505701	498377	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01993.hp2 HG03704.hp2 HG01169.hp2 HG01993.hp2 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0008 a0002c0001 a0001c0005 a0001c0008 a0002c0001	a0001c0005t0029 a0001c0008t0146 a0002c0001t0182 a0001c0005t0029 a0001c0008t0146 a0002c0001t0182	a0001c0005t0029g0316 a0001c0008t0146g0317 a0002c0001t0182g0318 a0001c0005t0029g0316 a0001c0008t0146g0317 a0002c0001t0182g0318	3	366	0.0082	11	c.7+2 others(24): Show c.7+2130_7+2131insCAAAAAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	1/9			chr18	TogoVar
COLEC12_chr18_311737_505701	502333	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00558.hp2 others(73): Show HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01071.hp1 HG01081.hp1 HG01168.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp2 HG02602.hp1 HG02735.hp2 HG02809.hp2 HG02970.hp1 HG03239.hp1 HG03491.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp2 HG04199.hp1 NA18939.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18954.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19030.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19082.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0005 others(5): Show a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0002c0001 a0002c0007 a0003c0002 a0003c0027	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(56): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0008 a0001c0003t0012 a0001c0003t0027 a0001c0003t0061 a0001c0003t0063 a0001c0003t0076 a0001c0003t0151 a0001c0003t0163 a0001c0004t0036 a0001c0004t0038 a0001c0004t0051 a0001c0004t0052 a0001c0004t0157 a0001c0004t0174 a0001c0004t0225 a0001c0004t0243 a0001c0005t0165 a0001c0005t0197 a0001c0008t0017 a0001c0008t0146 a0002c0001t0001 a0002c0001t0003 a0002c0001t0008 a0002c0001t0010 a0002c0001t0019 a0002c0001t0021 a0002c0001t0023 a0002c0001t0037 a0002c0001t0125 a0002c0001t0161 a0002c0001t0171 a0002c0001t0181 a0002c0001t0182 a0002c0001t0184 a0002c0001t0216 a0002c0001t0237 a0002c0007t0026 a0002c0007t0176 a0003c0002t0001 a0003c0002t0007 a0003c0002t0008 a0003c0002t0010 a0003c0002t0011 a0003c0002t0012 a0003c0002t0018 a0003c0002t0022 a0003c0002t0028 a0003c0002t0030 a0003c0002t0032 a0003c0002t0033 a0003c0002t0053 a0003c0002t0102 a0003c0002t0105 a0003c0002t0122 a0003c0002t0129 a0003c0027t0156	a0001c0003t0001g0302 a0001c0003t0002g0124 a0001c0003t0002g0254 others(73): Show a0001c0003t0001g0302 a0001c0003t0002g0124 a0001c0003t0002g0254 a0001c0003t0004g0056 a0001c0003t0004g0266 a0001c0003t0004g0278 a0001c0003t0004g0279 a0001c0003t0004g0294 a0001c0003t0008g0236 a0001c0003t0012g0284 a0001c0003t0027g0265 a0001c0003t0061g0292 a0001c0003t0063g0295 a0001c0003t0076g0301 a0001c0003t0151g0289 a0001c0003t0163g0281 a0001c0004t0036g0271 a0001c0004t0036g0315 a0001c0004t0038g0324 a0001c0004t0051g0006 a0001c0004t0052g0005 a0001c0004t0157g0212 a0001c0004t0174g0248 a0001c0004t0225g0143 a0001c0004t0243g0275 a0001c0005t0165g0246 a0001c0005t0197g0009 a0001c0008t0017g0350 a0001c0008t0017g0351 a0001c0008t0146g0317 a0002c0001t0001g0122 a0002c0001t0001g0267 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0280 a0002c0001t0001g0290 a0002c0001t0003g0126 a0002c0001t0003g0255 a0002c0001t0008g0298 a0002c0001t0010g0063 a0002c0001t0019g0008 a0002c0001t0021g0082 a0002c0001t0023g0065 a0002c0001t0023g0268 a0002c0001t0037g0081 a0002c0001t0125g0299 a0002c0001t0161g0286 a0002c0001t0171g0064 a0002c0001t0181g0269 a0002c0001t0182g0318 a0002c0001t0184g0276 a0002c0001t0216g0303 a0002c0001t0237g0073 a0002c0007t0026g0144 a0002c0007t0176g0353 a0003c0002t0001g0062 a0003c0002t0007g0051 a0003c0002t0008g0123 a0003c0002t0010g0282 a0003c0002t0010g0319 a0003c0002t0011g0285 a0003c0002t0011g0291 a0003c0002t0012g0264 a0003c0002t0018g0127 a0003c0002t0022g0077 a0003c0002t0028g0261 a0003c0002t0030g0061 a0003c0002t0032g0293 a0003c0002t0032g0300 a0003c0002t0033g0309 a0003c0002t0053g0003 a0003c0002t0102g0263 a0003c0002t0105g0251 a0003c0002t0122g0252 a0003c0002t0129g0283 a0003c0027t0156g0125	76	366	0.2077	11	c.-18 others(22): Show c.-1820_-1819insGAAAGAAAGAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1633		chr18	TogoVar
COLEC12_chr18_311737_505701	502333	T T	TTTTTTTC others(4): Show TTTTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 NA18960.hp2 NA19057.hp1 HG02896.hp1 NA18960.hp2 NA19057.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0003 a0002c0001 a0006c0009 a0001c0003 a0002c0001 a0006c0009	a0001c0003t0002 a0002c0001t0034 a0006c0009t0100 a0001c0003t0002 a0002c0001t0034 a0006c0009t0100	a0001c0003t0002g0111 a0002c0001t0034g0105 a0006c0009t0100g0133 a0001c0003t0002g0111 a0002c0001t0034g0105 a0006c0009t0100g0133	3	366	0.0082	11	c.-18 others(22): Show c.-1820_-1819insGAAAGAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1633		chr18	TogoVar
COLGALT1_chr19_17550649_17588157	17586507	C C	CACATGGG others(4): Show CACATGGGTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0131 a0001c0005t0012g0131	1	396	0.0025	11	c.50 others(22): Show c.5063_*5064insACATGGGTCTA	COLGALT1	ENSG00000130309.12	transcript	ENST00000252599.9	protein_coding		3351		chr19	TogoVar
COLGALT2_chr1_183930834_184042728	183977834	G G	GAGAGAGA others(4): Show GAGAGAGAAAGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02895.hp2 HG02970.hp1 others(3): Show HG01192.hp1 HG02895.hp2 HG02970.hp1 HG03195.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0001 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0328 others(3): Show a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0328 a0001c0001t0010g0214 a0001c0001t0010g0220 a0001c0001t0012g0221	6	340	0.0177	11	c.374 others(26): Show c.374+575_374+576insTCTTTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	350	0.0029	11	c.31 others(22): Show c.3119_*3120insAAAAAAAAAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAAAAA others(4): Show AAAAAAAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	350	0.0029	11	c.31 others(22): Show c.3119_*3120insAAAAAAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AAAAATAA others(4): Show AAAAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01123.hp2 HG01256.hp1 others(32): Show HG00544.hp2 HG01123.hp2 HG01256.hp1 HG01884.hp1 HG02055.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02451.hp1 HG02602.hp1 HG02723.hp2 HG02896.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp2 HG03654.hp1 HG03942.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18977.hp1 NA18982.hp2 NA18989.hp1 NA19002.hp2 NA19054.hp2 NA19068.hp2 NA19080.hp2 NA19082.hp2 NA19091.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0002c0003t0001 a0001c0001t0001 a0001c0001t0007 a0002c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0078 a0001c0001t0001g0079 others(32): Show a0001c0001t0001g0006 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0321 a0001c0001t0007g0289 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0067	35	350	0.1000	11	c.31 others(22): Show c.3119_*3120insAAAATAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD10_chr5_116080025_116298287	116295608	A A	AATAATAA others(4): Show AATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02280.hp2 HG03209.hp1 others(3): Show HG02132.hp2 HG02280.hp2 HG03209.hp1 HG03492.hp1 HG04199.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0072 a0001c0001t0001g0077 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0072 a0001c0001t0001g0077 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0027	6	350	0.0171	11	c.31 others(22): Show c.3119_*3120insATAATAATAAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding		2322		chr5	TogoVar
COMMD1_chr2_61900674_62141058	62085221	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02056.hp1 HG02145.hp1 others(19): Show HG01943.hp2 HG02056.hp1 HG02145.hp1 HG02280.hp2 HG02630.hp2 HG02886.hp2 HG02965.hp2 HG03540.hp2 NA18612.hp1 NA18946.hp2 NA18969.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18999.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19065.hp1 NA19082.hp1 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0234 others(19): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0237	22	286	0.0769	11	c.463 others(30): Show c.463-50606_463-50596dupTTTTTTTTTTT	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(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18970.hp2 HG03041.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0071 a0001c0001t0002g0227 a0001c0001t0001g0071 a0001c0001t0002g0227	2	286	0.0070	11	c.463 others(30): Show c.463-14444_463-14434dupAAAAAAAAAAA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD8_chr4_47445787_47468702	47467352	G G	GAGGAAAA others(4): Show GAGGAAAAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	396	0.0025	11	c.-37 others(22): Show c.-3702_-3701insTCTCTTTTCCT	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding		3651		chr4	TogoVar
COMMD9_chr11_36267292_36294424	36286410	A A	AAAAAAAG others(4): Show AAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	448	0.0022	11	c.51+ others(26): Show c.51+2951_51+2952insCTTTCTTTTTT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMTD1_chr10_75228641_75240957	75232740	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01943.hp1 HG01943.hp2 others(13): Show HG00558.hp2 HG01943.hp1 HG01943.hp2 HG02486.hp1 HG02559.hp2 HG02717.hp1 HG02895.hp1 HG03492.hp2 NA18940.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18984.hp2 NA19007.hp1 NA19062.hp1 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0003c0004t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0002 a0003c0004t0001g0007	16	410	0.0390	11	c.13 others(22): Show c.1332_*1333insAAAAAAAAAAA	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		900		chr10	TogoVar
COMT_chr22_19936772_19974975	19954186	A A	AAAGCCTT others(4): Show AAAGCCTTCCCT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0328 a0001c0003t0002g0328	1	426	0.0024	11	c.-91 others(28): Show c.-91-7012_-91-7002dupAAGCCTTCCCT	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
COP1_chr1_175939831_176212286	175949168	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01175.hp1 HG01243.hp2 others(5): Show HG00738.hp2 HG01175.hp1 HG01243.hp2 HG01358.hp2 HG01891.hp2 HG01978.hp2 HG02572.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0073 a0001c0001t0001g0075 others(5): Show a0001c0001t0001g0053 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0202	8	300	0.0267	11	c.213 others(30): Show c.2134-1940_2134-1930dupTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	300	0.0033	11	c.213 others(30): Show c.2134-8528_2134-8527insTGTGTGTGTGT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175976270	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01358.hp1 HG01361.hp2 others(11): Show HG01099.hp1 HG01358.hp1 HG01361.hp2 HG02074.hp2 HG02155.hp1 HG02630.hp2 HG02818.hp2 HG02922.hp1 HG03654.hp1 NA18522.hp1 NA18612.hp1 NA18967.hp1 NA19003.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0154 others(11): Show a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0219 a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0001t0001g0249	14	300	0.0467	11	c.213 others(32): Show c.2133+10662_2133+10672dupAAAAAAAAAAA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175998063	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG03540.hp2 others(1): Show HG02055.hp2 HG02258.hp2 HG03540.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0001t0001 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0037 a0001c0002t0002g0005 a0001c0002t0002g0014 others(1): Show a0001c0001t0001g0037 a0001c0002t0002g0005 a0001c0002t0002g0014 a0001c0002t0008g0026	4	300	0.0133	11	c.173 others(30): Show c.1730-8595_1730-8585dupTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	15/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176049178	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp1 HG00639.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0159 a0001c0001t0001g0138 a0001c0001t0001g0159	2	300	0.0067	11	c.127 others(30): Show c.1278-2865_1278-2855dupTTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	11/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176174007	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01257.hp2 HG03492.hp1 others(5): Show HG00741.hp2 HG01257.hp2 HG03492.hp1 HG03927.hp1 NA18612.hp2 NA18956.hp2 NA18961.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0088 others(5): Show a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0261 a0001c0001t0010g0098	8	300	0.0267	11	c.565 others(28): Show c.565+1902_565+1903insCTTTTTTTTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	3/19			chr1	TogoVar
COPB1_chr11_14452512_14504811	14477389	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(91): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01978.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18993.hp1 NA18997.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19030.hp1 NA19030.hp2 NA19066.hp2 NA19075.hp1 NA19076.hp2 NA19079.hp2 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0007 others(1): Show a0001c0001 a0001c0004 a0002c0007 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0007t0001 a0004c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0013 others(85): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0335 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0002g0037 a0001c0001t0002g0103 a0001c0004t0001g0264 a0002c0007t0001g0240 a0004c0006t0001g0178	94	386	0.2435	11	c.135 others(28): Show c.1359-385_1359-375dupTTTTTTTTTTT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	11/21			chr11	TogoVar
COPB1_chr11_14452512_14504811	14477393	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	386	0.0026	11	c.135 others(28): Show c.1359-379_1359-378insGTTTTTTTTTT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	11/21			chr11	TogoVar
COPE_chr19_18894514_18924387	18896794	A A	ACCCTGGG others(4): Show ACCCTGGGCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	330	0.0030	11	c.28 others(22): Show c.2884_*2885insAGTGCCCAGGG	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding		2719		chr19	TogoVar
COPG2_chr7_130501238_130673748	130513306	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0293 a0001c0001t0004g0293	1	326	0.0031	11	c.215 others(30): Show c.2150-4648_2150-4647insATATATATATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130523119	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG01891.hp1 others(21): Show HG00639.hp2 HG01361.hp2 HG01891.hp1 HG01943.hp2 HG01978.hp2 HG02109.hp1 HG02148.hp2 HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02630.hp1 HG02723.hp2 HG02886.hp1 HG02897.hp2 HG03195.hp2 HG03516.hp2 HG03540.hp2 NA18906.hp1 NA18967.hp2 NA18983.hp2 NA19003.hp1 NA19030.hp1 NA19043.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0012 a0005c0010 a0001c0001 a0001c0012 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0012t0002 a0005c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0127 others(21): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0245 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0300 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0002g0024 a0001c0001t0002g0181 a0001c0001t0004g0128 a0001c0001t0004g0131 a0001c0012t0002g0166 a0005c0010t0001g0147	24	326	0.0736	11	c.215 others(32): Show c.2150-14471_2150-14461dupTTTTTTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130557817	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	326	0.0031	11	c.112 others(30): Show c.1129-2696_1129-2686dupTTTTTTTTTTT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	12/23			chr7	TogoVar
COPS3_chr17_17241616_17286246	17255485	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01071.hp2 others(18): Show HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01192.hp2 HG01433.hp2 HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02622.hp2 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03139.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0097 others(15): Show a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219	21	352	0.0597	11	c.937 others(26): Show c.937-541_937-540insTTTTTTTTTTT	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	8/11			chr17	TogoVar
COPS4_chr4_83030183_83080818	83034147	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03098.hp1 HG02486.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0255 a0001c0001t0002g0034 a0001c0001t0001g0255 a0001c0001t0002g0034	2	372	0.0054	11	c.-10 others(22): Show c.-1078_-1077insAAAAAAAAAAA	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		1035		chr4	TogoVar
COPS4_chr4_83030183_83080818	83053839	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03516.hp2 NA18967.hp2 HG02074.hp1 HG03516.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0001t0001g0324 a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0001t0001g0324	3	372	0.0081	11	c.411 others(28): Show c.411-3084_411-3074dupAAAAAAAAAAA	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
COPS7A_chr12_6719046_6736865	6722287	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	474	0.0021	11	c.-19 others(22): Show c.-1936_-1935insAAAAAAAAAAA	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding		1758		chr12	TogoVar

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