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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
COL26A1_chr7_101357875_101564024	101510027	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0105 a0002c0004t0001g0105	1	174	0.0058	23	c.386 others(42): Show c.386-23041_386-23040insTTTTTTTTTTTTTTTTTTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7474070	A A	AATATATA others(16): Show AATATATATATATATATGGAATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02486.hp2 others(2): Show HG01891.hp1 HG02055.hp2 HG02486.hp2 HG03139.hp2 NA19043.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0009 a0002c0002 a0008c0009	a0002c0002t0002 a0008c0009t0003 a0002c0002t0002 a0008c0009t0003	a0002c0002t0002g0182 a0008c0009t0003g0180 a0008c0009t0003g0181 others(2): Show a0002c0002t0002g0182 a0008c0009t0003g0180 a0008c0009t0003g0181 a0008c0009t0003g0183 a0008c0009t0003g0185	5	196	0.0255	23	c.130 others(40): Show c.1302+530_1302+531insATATTCCATATATATATATATAT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	15/34			chr7	TogoVar
COL3A1_chr2_188969373_189017746	188972936	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG03654.hp2 HG04204.hp1 HG00323.hp1 HG03654.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0001c0001t0001 a0002c0002t0001 a0002c0002t0007	a0001c0001t0001g0317 a0002c0002t0001g0326 a0002c0002t0007g0323 a0001c0001t0001g0317 a0002c0002t0001g0326 a0002c0002t0007g0323	3	376	0.0080	23	c.-15 others(34): Show c.-1554_-1553insAAAAAAAAAAAAAAAAAAAAAAA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		1436		chr2	TogoVar
COL3A1_chr2_188969373_189017746	188984605	T T	TTACATAG others(16): Show TTACATAGGGCAAGTATAATTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02976.hp2 HG02486.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0093 a0001c0001t0008g0081 a0001c0001t0001g0093 a0001c0001t0008g0081	2	376	0.0053	23	c.80- others(36): Show c.80-152_80-130dupCATAGGGCAAGTATAATTTTCTA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	1/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A2_chr13_110302284_110518209	110316875	T T	TAAAACAT others(16): Show TAAAACATAGATATGTATATTATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0080 a0001c0005t0003g0080	1	372	0.0027	23	c.99+ others(38): Show c.99+8752_99+8753insAAAACATAGATATGTATATTATA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227193785	G G	GAAGGGGA others(16): Show GAAGGGGAGGGAGGGAGGGAAGGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18522.hp1 HG02809.hp1 NA18522.hp1	a0002 a0003 a0002 a0003	a0002c0007 a0003c0044 a0002c0007 a0003c0044	a0002c0007t0001 a0003c0044t0012 a0002c0007t0001 a0003c0044t0012	a0002c0007t0001g0311 a0003c0044t0012g0047 a0002c0007t0001g0311 a0003c0044t0012g0047	2	344	0.0058	23	c.87+ others(40): Show c.87+28976_87+28977insGGAGGGAGGGAGGGAAGGAAAGG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0068 a0002c0007t0001g0068	1	344	0.0029	23	c.546 others(38): Show c.546+711_546+712insATATATATATATATTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02717.hp1 HG01070.hp1 HG01071.hp2 HG02717.hp1	a0005 a0038 a0005 a0038	a0005c0020 a0038c0055 a0005c0020 a0038c0055	a0005c0020t0002 a0038c0055t0001 a0005c0020t0002 a0038c0055t0001	a0005c0020t0002g0078 a0005c0020t0002g0079 a0038c0055t0001g0007 a0005c0020t0002g0078 a0005c0020t0002g0079 a0038c0055t0001g0007	3	344	0.0087	23	c.546 others(38): Show c.546+711_546+712insATATATATATATTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	344	0.0029	23	c.546 others(38): Show c.546+711_546+712insATATATATATTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249231	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	344	0.0029	23	c.546 others(38): Show c.546+711_546+712insATATATATATATATATATATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227302677	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02056.hp2 HG02004.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0203 a0001c0001t0001g0022 a0001c0001t0001g0203	2	344	0.0058	23	c.388 others(40): Show c.3883-354_3883-332dupAAAAAAAAAAAAAAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	43/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227046054	T T	TCTAAATA others(16): Show TCTAAATATATATACATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG03041.hp2 others(2): Show HG02145.hp2 HG02258.hp1 HG03041.hp2 HG03540.hp2 NA20300.hp1	a0013 a0021 a0013 a0021	a0013c0013 a0021c0016 a0013c0013 a0021c0016	a0013c0013t0006 a0021c0016t0014 a0013c0013t0006 a0021c0016t0014	a0013c0013t0006g0144 a0013c0013t0006g0155 a0013c0013t0006g0212 others(2): Show a0013c0013t0006g0144 a0013c0013t0006g0155 a0013c0013t0006g0212 a0021c0016t0014g0019 a0021c0016t0014g0278	5	284	0.0176	23	c.328 others(42): Show c.3289+1420_3289+1421insTATATATATGTATATATATTTAG	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108680251	G G	GGGAGATC others(16): Show GGGAGATCCTGTGACACTTTTACA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19070.hp1 NA18966.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0049 a0001c0001t0001g0050	2	269	0.0074	23	c.394 others(40): Show c.3943-427_3943-405dupGGAGATCCTGTGACACTTTTACA	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	44/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A1_chr9_134636803_134849843	134826654	C C	CTGGTGTG others(16): Show CTGGTGTGTGGGTGTGTGTATGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00558.hp1 others(83): Show HG00099.hp1 HG00408.hp1 HG00558.hp1 HG00609.hp2 HG00735.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18971.hp2 NA18983.hp1 NA18986.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19085.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(36): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0022 a0001c0023 a0001c0025 a0001c0028 a0001c0031 a0001c0032 a0001c0033 a0001c0044 a0001c0045 a0001c0048 a0001c0050 a0001c0051 a0001c0056 a0001c0057 a0001c0058 a0001c0064 a0001c0065 a0002c0017 a0002c0041 a0003c0020 a0004c0067 a0005c0063 a0006c0040 a0012c0043 a0013c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(68): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0056 a0001c0003t0004 a0001c0003t0008 a0001c0003t0010 a0001c0003t0014 a0001c0003t0015 a0001c0003t0028 a0001c0003t0032 a0001c0003t0044 a0001c0004t0002 a0001c0004t0003 a0001c0005t0009 a0001c0005t0014 a0001c0005t0050 a0001c0006t0004 a0001c0006t0007 a0001c0006t0010 a0001c0006t0019 a0001c0006t0047 a0001c0006t0048 a0001c0007t0001 a0001c0007t0004 a0001c0007t0006 a0001c0007t0014 a0001c0007t0023 a0001c0009t0003 a0001c0010t0003 a0001c0011t0003 a0001c0011t0007 a0001c0015t0002 a0001c0016t0001 a0001c0016t0046 a0001c0018t0008 a0001c0019t0001 a0001c0022t0002 a0001c0023t0002 a0001c0025t0008 a0001c0028t0004 a0001c0031t0006 a0001c0032t0010 a0001c0033t0006 a0001c0044t0057 a0001c0045t0004 a0001c0048t0012 a0001c0050t0004 a0001c0051t0007 a0001c0056t0001 a0001c0057t0002 a0001c0058t0002 a0001c0064t0019 a0001c0065t0003 a0002c0017t0003 a0002c0041t0002 a0003c0020t0001 a0004c0067t0001 a0005c0063t0002 a0006c0040t0009 a0012c0043t0043 a0013c0055t0007	a0001c0001t0001g0033 a0001c0001t0001g0088 a0001c0001t0002g0220 others(83): Show a0001c0001t0001g0033 a0001c0001t0001g0088 a0001c0001t0002g0220 a0001c0001t0002g0245 a0001c0001t0003g0133 a0001c0001t0003g0146 a0001c0001t0004g0102 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0055 a0001c0001t0007g0248 a0001c0001t0008g0260 a0001c0001t0012g0242 a0001c0001t0031g0075 a0001c0002t0001g0018 a0001c0002t0001g0128 a0001c0002t0002g0056 a0001c0002t0002g0096 a0001c0002t0005g0060 a0001c0002t0005g0065 a0001c0002t0005g0211 a0001c0002t0056g0162 a0001c0003t0004g0038 a0001c0003t0004g0262 a0001c0003t0008g0187 a0001c0003t0010g0039 a0001c0003t0010g0259 a0001c0003t0014g0247 a0001c0003t0015g0188 a0001c0003t0028g0135 a0001c0003t0032g0004 a0001c0003t0044g0186 a0001c0004t0002g0052 a0001c0004t0002g0172 a0001c0004t0003g0064 a0001c0005t0009g0256 a0001c0005t0014g0258 a0001c0005t0050g0271 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0007g0103 a0001c0006t0010g0031 a0001c0006t0019g0264 a0001c0006t0047g0019 a0001c0006t0048g0047 a0001c0007t0001g0195 a0001c0007t0004g0028 a0001c0007t0006g0002 a0001c0007t0014g0044 a0001c0007t0023g0232 a0001c0009t0003g0261 a0001c0010t0003g0068 a0001c0011t0003g0143 a0001c0011t0007g0027 a0001c0015t0002g0054 a0001c0016t0001g0022 a0001c0016t0046g0020 a0001c0018t0008g0179 a0001c0018t0008g0182 a0001c0019t0001g0214 a0001c0022t0002g0159 a0001c0023t0002g0113 a0001c0025t0008g0203 a0001c0028t0004g0213 a0001c0031t0006g0048 a0001c0032t0010g0238 a0001c0033t0006g0190 a0001c0044t0057g0042 a0001c0045t0004g0104 a0001c0048t0012g0226 a0001c0050t0004g0034 a0001c0051t0007g0202 a0001c0056t0001g0084 a0001c0057t0002g0024 a0001c0058t0002g0127 a0001c0064t0019g0010 a0001c0065t0003g0009 a0002c0017t0003g0223 a0002c0041t0002g0164 a0003c0020t0001g0120 a0003c0020t0001g0121 a0004c0067t0001g0094 a0005c0063t0002g0072 a0006c0040t0009g0189 a0012c0043t0043g0037 a0013c0055t0007g0257	86	272	0.3162	23	c.506 others(40): Show c.5067+755_5067+756insTGTGGGTGTGTGTATGGGTGGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134826654	C C	CTGGTGTG others(16): Show CTGGTGTGTGGGTGTGTGTCTGGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0017 a0001c0008t0003g0017	1	272	0.0037	23	c.506 others(40): Show c.5067+755_5067+756insTGTGGGTGTGTGTCTGGGTGGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134836222	G G	GTCCAGTG others(16): Show GTCCAGTGATGGCCCCAGGCTGCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0004 a0001c0003t0032g0004	1	272	0.0037	23	c.537 others(42): Show c.5370+1025_5370+1047dupGATGGCCCCAGGCTGCTTCCAGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	65/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189059585	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	248	0.0040	23	c.208 others(40): Show c.2086-715_2086-693dupAAAAAAAAAAAAAAAAAAAAAAA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	31/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAAAA others(16): Show AAAAAAAAAAAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp2 HG02965.hp1 HG03139.hp2	a0054 a0069 a0054 a0069	a0054c0118 a0069c0099 a0054c0118 a0069c0099	a0054c0118t0002 a0069c0099t0002 a0054c0118t0002 a0069c0099t0002	a0054c0118t0002g0287 a0069c0099t0002g0040 a0054c0118t0002g0287 a0069c0099t0002g0040	2	412	0.0049	23	c.214 others(40): Show c.2145+268_2145+269insCTTTCTCTCTCTCTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981680	T T	TCCCGCCC others(16): Show TCCCGCCCCTCCCCTCCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG01515.hp2 others(10): Show HG00423.hp1 HG00642.hp2 HG01515.hp2 HG01934.hp1 HG02071.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02895.hp1 HG03927.hp2 NA18612.hp2 NA18983.hp2 NA19079.hp2	a0001 a0008 a0010 others(1): Show a0001 a0008 a0010 a0012	a0001c0001 a0008c0015 a0010c0016 others(1): Show a0001c0001 a0008c0015 a0010c0016 a0012c0033	a0001c0001t0002 a0001c0001t0003 a0008c0015t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0008c0015t0002 a0010c0016t0014 a0012c0033t0002	a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0094 others(10): Show a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0003g0006 a0008c0015t0002g0089 a0010c0016t0014g0090 a0012c0033t0002g0080	13	128	0.1016	23	c.-17 others(32): Show c.-171_-170insCCCGCCCCTCCCCTCCCCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		89		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981685	T T	TCCCCTCC others(16): Show TCCCCTCCCGCCCCTCTCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0115 a0001c0003t0001g0115	1	128	0.0078	23	c.-16 others(32): Show c.-166_-165insCCCCTCCCGCCCCTCTCGCCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		84		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332075	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0050 a0002c0001t0001g0050	1	322	0.0031	23	c.932 others(42): Show c.9328+1352_9328+1374dupATATATATATATATATATATATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(16): Show ATATATATATATATTATATATATG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp2 HG01169.hp1 others(13): Show HG00642.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG02129.hp1 HG02258.hp2 HG02523.hp1 HG03209.hp1 HG03579.hp2 HG04184.hp2 NA18747.hp1 NA18906.hp1 NA18945.hp1 NA18964.hp1 NA18998.hp1 NA19002.hp2	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0016 a0023 a0037	a0001c0002 a0001c0004 a0001c0014 others(9): Show a0001c0002 a0001c0004 a0001c0014 a0001c0074 a0001c0084 a0001c0086 a0001c0087 a0003c0082 a0006c0007 a0016c0019 a0023c0032 a0037c0051	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0001c0014t0002 a0001c0074t0001 a0001c0084t0001 a0001c0086t0003 a0001c0087t0002 a0003c0082t0002 a0006c0007t0001 a0016c0019t0002 a0023c0032t0001 a0037c0051t0002	a0001c0002t0001g0175 a0001c0002t0002g0318 a0001c0002t0003g0158 others(12): Show a0001c0002t0001g0175 a0001c0002t0002g0318 a0001c0002t0003g0158 a0001c0002t0003g0160 a0001c0004t0001g0228 a0001c0014t0002g0200 a0001c0074t0001g0169 a0001c0084t0001g0195 a0001c0086t0003g0306 a0001c0087t0002g0148 a0003c0082t0002g0197 a0006c0007t0001g0210 a0016c0019t0002g0212 a0023c0032t0001g0001 a0037c0051t0002g0145	16	322	0.0497	23	c.932 others(42): Show c.9328+1332_9328+1333insCATATATATAATATATATATATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A6_chr3_130512177_130682042	130636912	T T	TCCCCTCC others(16): Show TCCCCTCCCCCTCCCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00597.hp2 others(98): Show HG00280.hp2 HG00408.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG02015.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp1 HG02738.hp1 HG02809.hp1 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG06807.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19005.hp1 NA19030.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19240.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(30): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0017 a0022 a0023 a0029 a0031 a0032 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0045 a0046 a0047 a0048 a0050	a0001c0001 a0002c0002 a0002c0051 others(37): Show a0001c0001 a0002c0002 a0002c0051 a0003c0023 a0003c0070 a0004c0004 a0004c0029 a0004c0076 a0007c0032 a0007c0084 a0008c0006 a0009c0005 a0010c0016 a0010c0038 a0011c0008 a0012c0009 a0013c0012 a0015c0036 a0015c0037 a0016c0053 a0017c0019 a0022c0024 a0023c0039 a0029c0085 a0031c0044 a0032c0079 a0034c0078 a0035c0058 a0036c0068 a0037c0069 a0038c0065 a0039c0064 a0040c0066 a0041c0082 a0042c0080 a0045c0050 a0046c0054 a0047c0048 a0048c0047 a0050c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(63): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0021 a0001c0001t0024 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0051t0007 a0003c0023t0003 a0003c0070t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0005 a0004c0004t0009 a0004c0004t0010 a0004c0029t0002 a0004c0076t0002 a0007c0032t0003 a0007c0084t0002 a0008c0006t0007 a0009c0005t0002 a0009c0005t0006 a0009c0005t0011 a0010c0016t0001 a0010c0016t0010 a0010c0038t0002 a0011c0008t0001 a0011c0008t0002 a0012c0009t0003 a0012c0009t0005 a0013c0012t0001 a0013c0012t0006 a0013c0012t0008 a0015c0036t0008 a0015c0037t0006 a0015c0037t0008 a0016c0053t0008 a0017c0019t0003 a0017c0019t0009 a0022c0024t0005 a0022c0024t0018 a0023c0039t0017 a0023c0039t0026 a0029c0085t0007 a0031c0044t0002 a0032c0079t0003 a0034c0078t0004 a0035c0058t0004 a0036c0068t0002 a0037c0069t0002 a0038c0065t0002 a0039c0064t0005 a0040c0066t0003 a0041c0082t0006 a0042c0080t0001 a0045c0050t0005 a0046c0054t0002 a0047c0048t0003 a0048c0047t0019 a0050c0045t0002	a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0133 others(97): Show a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0001g0183 a0001c0001t0002g0056 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0087 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0004g0003 a0001c0001t0005g0061 a0001c0001t0007g0090 a0001c0001t0010g0255 a0001c0001t0021g0019 a0001c0001t0024g0140 a0002c0002t0001g0166 a0002c0002t0002g0074 a0002c0002t0003g0149 a0002c0002t0003g0158 a0002c0002t0003g0171 a0002c0002t0007g0228 a0002c0051t0007g0238 a0003c0023t0003g0022 a0003c0070t0002g0035 a0004c0004t0001g0172 a0004c0004t0001g0206 a0004c0004t0002g0038 a0004c0004t0002g0039 a0004c0004t0002g0047 a0004c0004t0003g0119 a0004c0004t0005g0043 a0004c0004t0009g0247 a0004c0004t0009g0254 a0004c0004t0010g0248 a0004c0004t0010g0250 a0004c0029t0002g0036 a0004c0076t0002g0053 a0007c0032t0003g0128 a0007c0032t0003g0129 a0007c0084t0002g0083 a0008c0006t0007g0227 a0009c0005t0002g0062 a0009c0005t0006g0057 a0009c0005t0006g0058 a0009c0005t0011g0094 a0010c0016t0001g0113 a0010c0016t0010g0256 a0010c0038t0002g0082 a0011c0008t0001g0154 a0011c0008t0001g0173 a0011c0008t0002g0049 a0012c0009t0003g0136 a0012c0009t0003g0147 a0012c0009t0003g0159 a0012c0009t0005g0054 a0012c0009t0005g0063 a0012c0009t0005g0104 a0012c0009t0005g0106 a0013c0012t0001g0115 a0013c0012t0006g0040 a0013c0012t0006g0086 a0013c0012t0008g0008 a0015c0036t0008g0001 a0015c0037t0006g0081 a0015c0037t0008g0169 a0016c0053t0008g0161 a0017c0019t0003g0127 a0017c0019t0009g0258 a0022c0024t0005g0037 a0022c0024t0018g0097 a0023c0039t0017g0101 a0023c0039t0026g0112 a0029c0085t0007g0239 a0031c0044t0002g0096 a0032c0079t0003g0160 a0034c0078t0004g0212 a0035c0058t0004g0240 a0036c0068t0002g0079 a0037c0069t0002g0046 a0038c0065t0002g0203 a0039c0064t0005g0085 a0040c0066t0003g0175 a0041c0082t0006g0089 a0042c0080t0001g0020 a0045c0050t0005g0067 a0046c0054t0002g0055 a0047c0048t0003g0120 a0048c0047t0019g0099 a0050c0045t0002g0069	101	264	0.3826	23	c.509 others(42): Show c.5091+1167_5091+1189dupTCCCCTTCCCCCTCCCCCTCCCC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773817	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA20129.hp1 HG02922.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0178 a0001c0001t0001g0034 a0001c0001t0001g0178	2	262	0.0076	23	c.-3- others(40): Show c.-3-16842_-3-16841insATTATATATATATATATATATAT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0142 a0001c0001t0012g0142	1	262	0.0038	23	c.-3- others(40): Show c.-3-16842_-3-16841insATATATATATATATATTTTTTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0141 a0001c0001t0012g0141	1	262	0.0038	23	c.-3- others(40): Show c.-3-16842_-3-16841insATATATATATATATTTTTTTTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773839	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	262	0.0038	23	c.-3- others(40): Show c.-3-16841_-3-16840insATATATATATATATATATATATA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3			chr3	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18946.hp1 NA18981.hp1 others(1): Show HG01255.hp2 NA18946.hp1 NA18981.hp1 NA19005.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0097 a0004c0009t0001g0239 a0004c0009t0001g0315 others(1): Show a0004c0009t0001g0097 a0004c0009t0001g0239 a0004c0009t0001g0315 a0004c0009t0001g0321	4	362	0.0111	23	c.250 others(42): Show c.2504-1438_2504-1416dupTTTTTTTTTTTTTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	438	0.0023	23	c.-11 others(34): Show c.-1118_-1117insAAAAAAAAATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	438	0.0023	23	c.-11 others(34): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATTTTT others(16): Show ATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0109 a0003c0005t0001g0109	1	438	0.0023	23	c.-11 others(34): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A3_chr20_62812050_62846159	62825127	G G	GGGGGGGA others(16): Show GGGGGGGAGGGGCTGGGCTCCGGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG00741.hp2 others(10): Show HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01515.hp1 HG01516.hp1 HG02004.hp2 HG02735.hp1 HG02818.hp1 HG03669.hp1 HG03704.hp1 NA20805.hp2	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0001 a0001c0002 a0001c0053 others(2): Show a0001c0001 a0001c0002 a0001c0053 a0005c0012 a0012c0032	a0001c0001t0001 a0001c0002t0001 a0001c0053t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0053t0001 a0005c0012t0001 a0012c0032t0001	a0001c0001t0001g0029 a0001c0001t0001g0255 a0001c0002t0001g0029 others(9): Show a0001c0001t0001g0029 a0001c0001t0001g0255 a0001c0002t0001g0029 a0001c0002t0001g0251 a0001c0053t0001g0167 a0005c0012t0001g0028 a0005c0012t0001g0249 a0005c0012t0001g0250 a0005c0012t0001g0252 a0005c0012t0001g0253 a0005c0012t0001g0256 a0012c0032t0001g0254	13	412	0.0316	23	c.630 others(38): Show c.630+108_630+109insGGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	388	0.0026	23	c.148 others(40): Show c.148+2201_148+2202insAAAAAAAAATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19012.hp2 NA19056.hp1 NA18967.hp1 NA19012.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093	3	388	0.0077	23	c.148 others(40): Show c.148+2201_148+2202insAAAAAAATATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19065.hp1 NA18999.hp2 NA19065.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0118 a0002c0004t0002g0119 a0002c0004t0002g0118 a0002c0004t0002g0119	2	388	0.0052	23	c.148 others(40): Show c.148+2201_148+2202insAAAAATATATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3616753	A A	AGAGAGGG others(16): Show AGAGAGGGAGAGGGAGACCGTGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20752.hp1 HG02818.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0239 a0002c0002t0001g0327 a0001c0001t0001g0239 a0002c0002t0001g0327	2	378	0.0053	23	c.202 others(40): Show c.202+3412_202+3434dupCGTGGGGAGAGGGAGAGGGAGAC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMP_chr19_18777773_18796305	18786763	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	398	0.0025	23	c.113 others(40): Show c.1136-136_1136-114dupAAAAAAAAAAAAAAAAAAAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	10/18			chr19	TogoVar
COPG2_chr7_130501238_130673748	130525960	A A	ACCTGGAC others(16): Show ACCTGGACAGCCTAAATGAGTGAC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0277 a0003c0004t0001g0277	1	326	0.0031	23	c.215 others(44): Show c.2150-17302_2150-17301insGTCACTCATTTAGGCTGTCCAGG	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130590222	T T	TCTCTCCC others(16): Show TCTCTCCCTCTCCCCACGGTCTCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01258.hp2 HG01346.hp2 others(1): Show HG01167.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0187 a0001c0001t0002g0224 others(1): Show a0001c0001t0002g0159 a0001c0001t0002g0187 a0001c0001t0002g0224 a0001c0001t0002g0225	4	326	0.0123	23	c.737 others(42): Show c.737+20708_737+20730dupGGAGACCGTGGGGAGAGGGAGAG	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPS7A_chr12_6719046_6736865	6733399	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01884.hp2 HG03041.hp2 HG01167.hp1 HG01884.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0012 a0001c0002t0004g0063 a0001c0002t0004g0012 a0001c0002t0004g0063	3	474	0.0063	23	c.23 others(34): Show c.2360_*2361insAAAAAAAAAAAAAAAAAAAAAAG	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding		1535		chr12	TogoVar
COQ7_chr16_19062614_19085095	19077590	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01515.hp2 HG01884.hp2 others(3): Show HG01358.hp2 HG01515.hp2 HG01884.hp2 HG02132.hp1 HG02922.hp1 HG03130.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0014 a0002c0003t0002 a0002c0003t0014	a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0065 others(1): Show a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0065 a0002c0003t0014g0056	6	372	0.0161	23	c.576 others(38): Show c.576+230_576+231insTTTTTTTTTTTTTTTTTTTTTTT	COQ7	ENSG00000167186.11	transcript	ENST00000321998.10	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
CORIN_chr4_47589001_47843067	47632753	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0188 a0002c0003t0001g0188	1	264	0.0038	23	c.219 others(42): Show c.2199-6233_2199-6232insATCTATCTATCTATCTATCTATC	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	16/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47632757	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01255.hp1 others(20): Show HG00558.hp2 HG00621.hp2 HG01255.hp1 HG01346.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp2 HG02809.hp2 HG02970.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 NA18999.hp1 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19079.hp2 NA19087.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0029 a0006c0009 a0008c0011	a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 others(6): Show a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0002c0003t0003 a0002c0004t0001 a0002c0029t0003 a0006c0009t0001 a0008c0011t0001	a0001c0001t0003g0013 a0001c0001t0003g0030 a0001c0001t0003g0037 others(20): Show a0001c0001t0003g0013 a0001c0001t0003g0030 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0081 a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0003g0107 a0001c0001t0007g0105 a0001c0001t0007g0109 a0001c0002t0001g0044 a0001c0002t0001g0160 a0001c0002t0003g0127 a0002c0003t0003g0184 a0002c0003t0003g0204 a0002c0003t0003g0208 a0002c0003t0003g0231 a0002c0004t0001g0235 a0002c0029t0003g0259 a0006c0009t0001g0108 a0008c0011t0001g0103 a0008c0011t0001g0104	23	264	0.0871	23	c.219 others(42): Show c.2199-6237_2199-6236insATCTATCTATCTATCTATCTATC	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	16/21			chr4	TogoVar
CORO2A_chr9_98115975_98197637	98119808	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0271 a0001c0001t0026g0271	1	342	0.0029	23	c.49 others(34): Show c.4965_*4966insAAAAAAAAAAAAAAAAAAAAAAA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding		1166		chr9	TogoVar
CORO7_chr16_4349542_4421596	4395996	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0275 a0001c0002t0001g0275	1	297	0.0034	23	c.565 others(38): Show c.565-658_565-657insCACACACACACACACACACACAC	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	6/27			chr16	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19030.hp1 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0139 a0001c0001t0011g0072 a0001c0001t0001g0139 a0001c0001t0011g0072	2	384	0.0052	23	c.434 others(38): Show c.434+164_434+165insATATATATATATATATTTTTTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX18_chr4_73047362_73074716	73067864	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0191 a0001c0002t0002g0191	1	384	0.0026	23	c.434 others(38): Show c.434+164_434+165insATATATATATATATATATATTTT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	2/5			chr4	TogoVar
COX19_chr7_959852_980549	975620	G G	GCCCCTTG others(16): Show GCCCCTTGCCCAGGCCCGGCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 NA19010.hp2 HG03098.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0003 a0001c0001t0008g0163 a0001c0001t0003g0003 a0001c0001t0008g0163	2	432	0.0046	23	c.-11 others(32): Show c.-112_-111insTGGGGCCGGGCCTGGGCAAGGGG	COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding		72		chr7	TogoVar
COX4I2_chr20_31632912_31650006	31633906	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	300	0.0033	23	c.-40 others(34): Show c.-4057_-4056insAAAAAAAAAAAAAAAAAAAAAAA	COX4I2	ENSG00000131055.5	transcript	ENST00000376075.4	protein_coding		4005		chr20	TogoVar
COX5B_chr2_97641062_97653383	97643142	T T	TATTGTAT others(16): Show TATTGTATGAGAATATACTGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00735.hp1 others(7): Show HG00323.hp1 HG00323.hp2 HG00735.hp1 HG01081.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01358.hp2 HG03710.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006	10	346	0.0289	23	c.-29 others(34): Show c.-2945_-2944insATTGTATGAGAATATACTGCAGC	COX5B	ENSG00000135940.7	transcript	ENST00000258424.3	protein_coding		2919		chr2	TogoVar

Search by Variant

Search

Search Results (Total: 8696 hits)