JoGo: Joint Open Genome and Omics Platform

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
COL9A1_chr6_70211126_70308084	70302967	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02451.hp1 NA19043.hp1 HG02451.hp1 NA19043.hp1	a0002 a0008 a0002 a0008	a0002c0004 a0008c0023 a0002c0004 a0008c0023	a0002c0004t0011 a0008c0023t0012 a0002c0004t0011 a0008c0023t0012	a0002c0004t0011g0330 a0008c0023t0012g0329 a0002c0004t0011g0330 a0008c0023t0012g0329	2	362	0.0055	0	c.-43 others(3): Show c.-43C>T	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	1/38	43		chr6	TogoVar
COL9A1_chr6_70211126_70308084	70303031	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01169.hp2 others(19): Show HG00741.hp1 HG01167.hp1 HG01169.hp2 HG01884.hp1 HG02109.hp2 HG02258.hp1 HG02559.hp2 HG02622.hp2 HG02723.hp1 HG02809.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0015	a0001c0001 a0001c0019 a0002c0002 others(7): Show a0001c0001 a0001c0019 a0002c0002 a0002c0008 a0002c0018 a0003c0003 a0003c0010 a0004c0007 a0005c0005 a0015c0032	a0001c0001t0006 a0001c0019t0006 a0002c0002t0006 others(8): Show a0001c0001t0006 a0001c0019t0006 a0002c0002t0006 a0002c0008t0005 a0002c0018t0006 a0003c0003t0007 a0003c0010t0007 a0004c0007t0006 a0004c0007t0007 a0005c0005t0006 a0015c0032t0013	a0001c0001t0006g0342 a0001c0019t0006g0344 a0002c0002t0006g0340 others(18): Show a0001c0001t0006g0342 a0001c0019t0006g0344 a0002c0002t0006g0340 a0002c0008t0005g0009 a0002c0008t0005g0332 a0002c0008t0005g0333 a0002c0008t0005g0334 a0002c0008t0005g0336 a0002c0008t0005g0337 a0002c0008t0005g0338 a0002c0008t0005g0339 a0002c0018t0006g0343 a0003c0003t0007g0349 a0003c0003t0007g0350 a0003c0010t0007g0335 a0004c0007t0006g0346 a0004c0007t0006g0347 a0004c0007t0007g0331 a0004c0007t0007g0348 a0005c0005t0006g0345 a0015c0032t0013g0341	22	362	0.0608	0	c.-10 others(4): Show c.-107A>G	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	1/38	107		chr6	TogoVar
COL9A1_chr6_70211126_70308084	70303074	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03704.hp1 HG04228.hp2 HG03704.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0001t0009g0010 a0001c0001t0009g0011	2	362	0.0055	0	c.-15 others(4): Show c.-150T>C	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	1/38	150		chr6	TogoVar
COLEC11_chr2_3590112_3649644	3595125	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	378	0.0027	0	c.-70 others(3): Show c.-70G>C	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	1/7	9216		chr2	TogoVar
COLEC11_chr2_3590112_3649644	3595126	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	378	0.0027	0	c.-69 others(3): Show c.-69C>G	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	1/7	9215		chr2	TogoVar
COLEC12_chr18_311737_505701	500644	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02735.hp2 HG03490.hp1 HG03491.hp2 others(1): Show HG02735.hp2 HG03490.hp1 HG03491.hp2 HG03831.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0002 a0001c0003 a0001c0004 a0003c0002	a0001c0003t0050 a0001c0004t0051 a0001c0004t0052 others(1): Show a0001c0003t0050 a0001c0004t0051 a0001c0004t0052 a0003c0002t0053	a0001c0003t0050g0004 a0001c0004t0051g0006 a0001c0004t0052g0005 others(1): Show a0001c0003t0050g0004 a0001c0004t0051g0006 a0001c0004t0052g0005 a0003c0002t0053g0003	4	366	0.0109	0	c.-13 others(4): Show c.-130G>A	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	1/10	130		chr18	TogoVar
COLEC12_chr18_311737_505701	500665	G G	GCCCGCGC others(2): Show GCCCGCGCTC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02451.hp1 others(8): Show HG01884.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02622.hp2 HG02723.hp1 HG02922.hp1 HG03209.hp1 HG03579.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0005 a0002c0001 others(2): Show a0001c0003 a0001c0005 a0002c0001 a0003c0002 a0003c0010	a0001c0003t0256 a0001c0005t0247 a0001c0005t0248 others(8): Show a0001c0003t0256 a0001c0005t0247 a0001c0005t0248 a0001c0005t0250 a0001c0005t0255 a0002c0001t0249 a0003c0002t0246 a0003c0002t0251 a0003c0002t0252 a0003c0002t0253 a0003c0010t0254	a0001c0003t0256g0356 a0001c0005t0247g0355 a0001c0005t0248g0357 others(8): Show a0001c0003t0256g0356 a0001c0005t0247g0355 a0001c0005t0248g0357 a0001c0005t0250g0354 a0001c0005t0255g0358 a0002c0001t0249g0361 a0003c0002t0246g0359 a0003c0002t0251g0363 a0003c0002t0252g0360 a0003c0002t0253g0364 a0003c0010t0254g0362	11	366	0.0301	9	c.-16 others(18): Show c.-160_-152dupGAGCGCGGG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	1/10	152		chr18	TogoVar
COLGALT1_chr19_17550649_17588157	17555673	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0072 a0001c0003t0035g0072	1	396	0.0025	0	c.-41 others(3): Show c.-41T>C	COLGALT1	ENSG00000130309.12	transcript	ENST00000252599.9	protein_coding	1/12	41		chr19	TogoVar
COLGALT2_chr1_183930834_184042728	184037382	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp2 HG03486.hp2 HG01891.hp2 HG03486.hp2	a0004 a0004	a0004c0021 a0004c0022 a0004c0021 a0004c0022	a0004c0021t0045 a0004c0022t0044 a0004c0021t0045 a0004c0022t0044	a0004c0021t0045g0334 a0004c0022t0044g0335 a0004c0021t0045g0334 a0004c0022t0044g0335	2	340	0.0059	0	c.-25 others(3): Show c.-25C>T	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	1/12	25		chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184037415	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00438.hp1 others(88): Show HG00099.hp1 HG00140.hp2 HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01099.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18940.hp2 NA18952.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18985.hp2 NA18987.hp1 NA18992.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 others(15): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0006 a0001c0002t0026 a0001c0004t0004 a0001c0004t0011 a0002c0003t0011 a0002c0003t0014	a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 others(88): Show a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0056 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0004g0096 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0008g0037 a0001c0001t0008g0041 a0001c0001t0008g0043 a0001c0001t0008g0049 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0057 a0001c0001t0008g0063 a0001c0001t0008g0070 a0001c0001t0008g0073 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0091 a0001c0001t0011g0026 a0001c0001t0011g0030 a0001c0001t0011g0031 a0001c0001t0011g0051 a0001c0001t0011g0058 a0001c0001t0011g0092 a0001c0001t0014g0024 a0001c0001t0014g0033 a0001c0001t0014g0059 a0001c0001t0014g0072 a0001c0001t0017g0032 a0001c0001t0017g0067 a0001c0001t0025g0023 a0001c0001t0027g0028 a0001c0001t0028g0075 a0001c0001t0029g0055 a0001c0001t0030g0052 a0001c0001t0031g0068 a0001c0001t0032g0085 a0001c0002t0006g0010 a0001c0002t0006g0017 a0001c0002t0006g0018 a0001c0002t0006g0019 a0001c0002t0006g0022 a0001c0002t0006g0027 a0001c0002t0006g0029 a0001c0002t0006g0038 a0001c0002t0006g0042 a0001c0002t0006g0045 a0001c0002t0006g0050 a0001c0002t0006g0081 a0001c0002t0006g0082 a0001c0002t0006g0094 a0001c0002t0006g0097 a0001c0002t0006g0098 a0001c0002t0026g0060 a0001c0004t0004g0093 a0001c0004t0004g0095 a0001c0004t0011g0089 a0002c0003t0011g0025 a0002c0003t0011g0074 a0002c0003t0014g0034	91	340	0.2677	0	c.-58 others(3): Show c.-58G>C	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	1/12	58		chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184037440	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02886.hp2 others(2): Show HG01891.hp1 HG02055.hp1 HG02886.hp2 HG02976.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 others(2): Show a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0002t0021	a0001c0001t0020g0007 a0001c0001t0022g0005 a0001c0001t0023g0006 others(2): Show a0001c0001t0020g0007 a0001c0001t0022g0005 a0001c0001t0023g0006 a0001c0001t0024g0008 a0001c0002t0021g0009	5	340	0.0147	0	c.-83 others(3): Show c.-83T>C	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	1/12	83		chr1	TogoVar
COLQ_chr3_15445133_15526706	15521671	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00597.hp2 others(82): Show HG00423.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01099.hp1 HG01169.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02273.hp1 HG02572.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG03017.hp1 HG03130.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03710.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp2 NA19079.hp1 NA19082.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(69): Show a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0006g0050 a0001c0001t0006g0051 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0059 a0001c0001t0006g0064 a0001c0001t0006g0067 a0001c0001t0006g0072 a0001c0001t0011g0068	85	382	0.2225	0	c.-46 others(3): Show c.-46G>A	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	1/17	46		chr3	TogoVar
COMMD2_chr3_149733472_149757489	149752461	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02965.hp1 others(2): Show HG02622.hp1 HG02818.hp2 HG02965.hp1 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0021 a0001c0002t0008 a0001c0002t0021	a0001c0002t0008g0020 a0001c0002t0021g0137 a0001c0002t0008g0020 a0001c0002t0021g0137	5	424	0.0118	0	c.-17 others(3): Show c.-17A>G	COMMD2	ENSG00000114744.9	transcript	ENST00000473414.6	protein_coding	1/5	17		chr3	TogoVar
COMMD2_chr3_149733472_149757489	149752467	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG03130.hp2 others(2): Show HG02109.hp2 HG02976.hp2 HG03130.hp2 HG03471.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0015 a0001c0001t0013g0047 a0001c0001t0006g0015 a0001c0001t0013g0047	5	424	0.0118	0	c.-23 others(3): Show c.-23G>C	COMMD2	ENSG00000114744.9	transcript	ENST00000473414.6	protein_coding	1/5	23		chr3	TogoVar
COMMD4_chr15_75331063_75345273	75336066	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0001	1	430	0.0023	0	c.-24 others(3): Show c.-24C>T	COMMD4	ENSG00000140365.16	transcript	ENST00000267935.13	protein_coding	1/8	24		chr15	TogoVar
COMMD4_chr15_75331063_75345273	75336073	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0034 a0001c0001t0006g0034	1	430	0.0023	0	c.-17 others(3): Show c.-17C>T	COMMD4	ENSG00000140365.16	transcript	ENST00000267935.13	protein_coding	1/8	17		chr15	TogoVar
COMMD4_chr15_75331063_75345273	75336080	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	430	0.0023	0	c.-10 others(3): Show c.-10T>C	COMMD4	ENSG00000140365.16	transcript	ENST00000267935.13	protein_coding	1/8	10		chr15	TogoVar
COMMD5_chr8_144845176_144858048	144852854	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0021 a0001c0001t0009g0021	1	428	0.0023	0	c.-73 others(3): Show c.-73G>A	COMMD5	ENSG00000170619.10	transcript	ENST00000305103.4	protein_coding	1/2	1516		chr8	TogoVar
COMMD5_chr8_144845176_144858048	144852985	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0014	1	428	0.0023	0	c.-20 others(4): Show c.-204G>A	COMMD5	ENSG00000170619.10	transcript	ENST00000305103.4	protein_coding	1/2	1647		chr8	TogoVar
COMMD6_chr13_75520214_75542841	75537840	A A	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01192.hp1 NA18942.hp1 NA18947.hp1 others(2): Show HG01192.hp1 NA18942.hp1 NA18947.hp1 NA18988.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0014 a0001c0001t0006g0046 a0001c0001t0006g0014 a0001c0001t0006g0046	5	396	0.0126	0	c.-35 others(3): Show c.-35T>A	COMMD6	ENSG00000188243.14	transcript	ENST00000682242.1	protein_coding	1/4	35		chr13	TogoVar
COMMD8_chr4_47445787_47468702	47463702	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02257.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	2	396	0.0051	0	c.-51 others(3): Show c.-51A>G	COMMD8	ENSG00000169019.11	transcript	ENST00000381571.6	protein_coding	1/5	51		chr4	TogoVar
COMP_chr19_18777773_18796305	18791278	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0178 a0001c0001t0005g0178	1	398	0.0025	0	c.-9G others(2): Show c.-9G>T	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	1/19	9		chr19	TogoVar
COMT_chr22_19936772_19974975	19941860	G G	GGGGCGGG others(9): Show GGGGCGGGTCCAGTCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0030 a0001c0005t0030	a0001c0005t0030g0038 a0001c0005t0030g0038	1	426	0.0024	16	c.-12 others(25): Show c.-121_-106dupTCCAGTCCCGGGCGGG	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/6	20643	INFO_REALIGN_3_PRIME	chr22	TogoVar
COMT_chr22_19936772_19974975	19961219	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02723.hp1 HG02886.hp1 others(3): Show HG02145.hp2 HG02723.hp1 HG02886.hp1 HG02976.hp1 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0028 a0001c0003t0029 a0001c0003t0009 a0001c0003t0028 a0001c0003t0029	a0001c0003t0009g0123 a0001c0003t0009g0142 a0001c0003t0009g0231 others(3): Show a0001c0003t0009g0123 a0001c0003t0009g0142 a0001c0003t0009g0231 a0001c0003t0009g0395 a0001c0003t0028g0394 a0001c0003t0029g0297	6	426	0.0141	0	c.-71 others(3): Show c.-71C>G	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	2/6	1308		chr22	TogoVar
COP1_chr1_175939831_176212286	176206983	A A	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01074.hp1 HG01192.hp2 HG01884.hp2 others(26): Show HG01074.hp1 HG01192.hp2 HG01884.hp2 HG02258.hp2 HG02559.hp2 HG02622.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp2 HG03540.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG06807.hp1 NA18747.hp1 NA18962.hp2 NA18995.hp1 NA19030.hp2 NA19064.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0011 a0001c0002t0002 a0001c0002t0008 a0001c0002t0011	a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 others(26): Show a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0008g0026 a0001c0002t0011g0267	29	300	0.0967	0	c.-5T others(2): Show c.-5T>G	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	1/20	5		chr1	TogoVar
COP1_chr1_175939831_176212286	176206990	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	300	0.0033	0	c.-12 others(3): Show c.-12G>C	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	1/20	12		chr1	TogoVar
COP1_chr1_175939831_176212286	176207223	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG01169.hp1 others(9): Show HG00099.hp1 HG01167.hp2 HG01169.hp1 HG02055.hp1 HG02735.hp1 HG03130.hp1 HG03486.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 NA18954.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 others(9): Show a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0005g0275 a0001c0001t0005g0276	12	300	0.0400	0	c.-24 others(4): Show c.-245G>A	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	1/20	245		chr1	TogoVar
COP1_chr1_175939831_176212286	176207227	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0269 a0001c0001t0013g0269	1	300	0.0033	0	c.-24 others(4): Show c.-249C>T	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	1/20	249		chr1	TogoVar
COP1_chr1_175939831_176212286	176207270	T T	TGC TGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG01109.hp1 others(28): Show HG00099.hp1 HG00140.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02293.hp1 HG02300.hp1 HG02647.hp2 HG02735.hp1 HG02818.hp1 HG03130.hp1 HG03486.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG04184.hp2 HG06807.hp2 NA18954.hp2 NA18981.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 others(28): Show a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0005g0275 a0001c0001t0005g0276	31	300	0.1033	2	c.-29 others(11): Show c.-294_-293dupGC	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	1/20	293		chr1	TogoVar
COP1_chr1_175939831_176212286	176207283	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	300	0.0033	0	c.-30 others(4): Show c.-305C>A	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	1/20	305		chr1	TogoVar
COPB1_chr11_14452512_14504811	14499808	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(281): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0002c0007 others(2): Show a0001c0001 a0001c0004 a0002c0007 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0004t0001 a0002c0007t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0002c0007t0001 a0003c0003t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(264): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0004t0001g0264 a0002c0007t0001g0240 a0003c0003t0001g0329 a0004c0006t0001g0178	284	386	0.7358	0	c.-15 others(4): Show c.-159G>T	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	1/22	880		chr11	TogoVar
COPB2_chr3_139352406_139394647	139389587	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	264	0.0038	0	c.-37 others(3): Show c.-37A>G	COPB2	ENSG00000184432.11	transcript	ENST00000333188.10	protein_coding	1/22	37		chr3	TogoVar
COPB2_chr3_139352406_139394647	139389638	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG03654.hp2 HG00140.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	2	264	0.0076	0	c.-88 others(3): Show c.-88G>A	COPB2	ENSG00000184432.11	transcript	ENST00000333188.10	protein_coding	1/22	88		chr3	TogoVar
COPG1_chr3_129244606_129282773	129249638	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02083.hp2 NA18951.hp2 HG02083.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	2	326	0.0061	0	c.-72 others(3): Show c.-72A>G	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding	1/24	72		chr3	TogoVar
COPG1_chr3_129244606_129282773	129249670	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0186 a0001c0001t0007g0186	1	326	0.0031	0	c.-40 others(3): Show c.-40C>G	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding	1/24	40		chr3	TogoVar
COPG2_chr7_130501238_130673748	130668694	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	326	0.0031	0	c.-26 others(3): Show c.-26G>C	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	1/24	26		chr7	TogoVar
COPS2_chr15_49117727_49160599	49155590	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0048 a0001c0004t0021g0048	1	398	0.0025	0	c.-12 others(3): Show c.-12C>A	COPS2	ENSG00000166200.15	transcript	ENST00000388901.10	protein_coding	1/13	12		chr15	TogoVar
COPS5_chr8_67038079_67067133	67062016	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02559.hp1 HG03516.hp2 HG02559.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0240 a0001c0002t0003g0241	2	292	0.0069	0	c.-20 others(3): Show c.-20A>G	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	1/8	20		chr8	TogoVar
COPS5_chr8_67038079_67067133	67062045	T T	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00741.hp1 HG01192.hp2 HG01978.hp1 others(12): Show HG00741.hp1 HG01192.hp2 HG01978.hp1 HG01981.hp2 HG02056.hp2 HG02258.hp1 HG02293.hp1 HG02683.hp2 HG02738.hp2 HG03017.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp2 HG03942.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 others(12): Show a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256	15	292	0.0514	0	c.-49 others(3): Show c.-49A>G	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	1/8	49		chr8	TogoVar
COPS7A_chr12_6719046_6736865	6724127	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01952.hp2 HG02647.hp1 HG02896.hp1 others(1): Show HG01952.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0023 a0001c0001t0007g0099 a0001c0001t0007g0023 a0001c0001t0007g0099	4	474	0.0084	0	c.-96 others(3): Show c.-96G>A	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding	1/8	530		chr12	TogoVar
COPS7A_chr12_6719046_6736865	6724146	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0046 a0001c0001t0018g0046	1	474	0.0021	0	c.-77 others(3): Show c.-77C>T	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding	1/8	511		chr12	TogoVar
COPS7A_chr12_6719046_6736865	6724147	T T	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0046 a0001c0001t0018g0046	1	474	0.0021	0	c.-76 others(3): Show c.-76T>A	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding	1/8	510		chr12	TogoVar
COPS7A_chr12_6719046_6736865	6724149	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0046 a0001c0001t0018g0046	1	474	0.0021	0	c.-74 others(3): Show c.-74C>A	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding	1/8	508		chr12	TogoVar
COPS7A_chr12_6719046_6736865	6724153	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0046 a0001c0001t0018g0046	1	474	0.0021	0	c.-70 others(3): Show c.-70G>T	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding	1/8	504		chr12	TogoVar
COPS7A_chr12_6719046_6736865	6724163	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0008 a0001c0002t0017g0008	1	474	0.0021	0	c.-60 others(3): Show c.-60G>T	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding	1/8	494		chr12	TogoVar
COPS7B_chr2_231781445_231814253	231786505	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0002 a0001c0001t0050g0002	1	348	0.0029	0	c.-50 others(3): Show c.-50A>G	COPS7B	ENSG00000144524.18	transcript	ENST00000350033.8	protein_coding	1/7	2066		chr2	TogoVar
COPS8_chr2_237080889_237105474	237085916	T T	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0001 a0001c0001t0017g0001	1	348	0.0029	0	c.-49 others(3): Show c.-49T>G	COPS8	ENSG00000198612.11	transcript	ENST00000354371.7	protein_coding	1/8	49		chr2	TogoVar
COPS8_chr2_237080889_237105474	237085917	CTG CTG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02976.hp2 others(2): Show HG02486.hp2 HG02559.hp1 HG02976.hp2 HG03130.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0024 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0024 a0001c0001t0006g0092 a0001c0001t0006g0093	5	348	0.0144	-2	c.-47 others(9): Show c.-47_-46delTG	COPS8	ENSG00000198612.11	transcript	ENST00000354371.7	protein_coding	1/8	46		chr2	TogoVar
COPS8_chr2_237080889_237105474	237085932	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01891.hp1 others(3): Show HG00738.hp1 HG01081.hp2 HG01891.hp1 HG03041.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0026 a0001c0001t0007 a0001c0001t0026	a0001c0001t0007g0013 a0001c0001t0007g0101 a0001c0001t0026g0100 a0001c0001t0007g0013 a0001c0001t0007g0101 a0001c0001t0026g0100	6	348	0.0172	0	c.-33 others(3): Show c.-33C>G	COPS8	ENSG00000198612.11	transcript	ENST00000354371.7	protein_coding	1/8	33		chr2	TogoVar
COQ10A_chr12_56261942_56275966	56267030	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	332	0.0030	0	c.-89 others(3): Show c.-89G>A	COQ10A	ENSG00000135469.14	transcript	ENST00000308197.10	protein_coding	1/5	89		chr12	TogoVar

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