Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
COL6A1_chr21_45976770_46010048	45981618	T T	TCCCGCCC others(23): Show TCCCGCCCCTCCCCTCCCCTCCCCTCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03927.hp2 NA18612.hp2 HG02559.hp1 HG03927.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0002 a0001c0001t0003 a0001c0022t0007 a0001c0001t0002 a0001c0001t0003 a0001c0022t0007	a0001c0001t0002g0103 a0001c0001t0003g0006 a0001c0022t0007g0046 a0001c0001t0002g0103 a0001c0001t0003g0006 a0001c0022t0007g0046	3	128	0.0234	30	c.-23 others(39): Show c.-233_-232insCCCGCCCCTCCCCTCCCCTCCCCTCCCGCC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		151		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981622	G G	GCCCCTCC others(23): Show GCCCCTCCCCTCCCCTCCCCTCCCGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	128	0.0078	30	c.-22 others(39): Show c.-229_-228insCCCCTCCCCTCCCCTCCCCTCCCGCCCCGC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		147		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981632	T T	TCCCCTCC others(23): Show TCCCCTCCCCTCCCGCCCCGCCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	128	0.0078	30	c.-21 others(39): Show c.-219_-218insCCCCTCCCCTCCCGCCCCGCCCCTCCCCTC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		137		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981656	T T	TCCCGCCC others(23): Show TCCCGCCCCCGCCCCTCCCCTCCCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0110 a0006c0011t0002g0110	1	128	0.0078	30	c.-19 others(39): Show c.-195_-194insCCCGCCCCCGCCCCTCCCCTCCCCCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		113		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18983.hp2 NA19055.hp1 NA18941.hp1 NA18983.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0184 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0184	3	372	0.0081	30	c.49 others(41): Show c.4904_*4905insAGGGTCAGGGTCAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4595		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 NA18906.hp1 HG02622.hp2 NA18906.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0005 a0002c0008t0005	a0002c0008t0005g0060 a0002c0008t0005g0093 a0002c0008t0005g0060 a0002c0008t0005g0093	2	372	0.0054	30	c.49 others(41): Show c.4904_*4905insAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4595		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00738.hp1 others(1): Show HG00140.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0020 a0001c0002t0009g0256 a0001c0002t0009g0265 a0001c0002t0009g0020 a0001c0002t0009g0256 a0001c0002t0009g0265	4	372	0.0108	30	c.49 others(41): Show c.4904_*4905insAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4595		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134443	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02970.hp1 HG02055.hp2 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0222 a0002c0003t0008g0224 a0002c0003t0008g0222 a0002c0003t0008g0224	2	372	0.0054	30	c.49 others(41): Show c.4952_*4953insAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4643		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134461	C C	CAGGGTCA others(23): Show CAGGGTCAGGGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0235 a0003c0007t0003g0235	1	372	0.0027	30	c.49 others(41): Show c.4970_*4971insAGGGTCAGGGTCAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4661		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134471	G G	GTCAGGGT others(23): Show GTCAGGGTCAGGGTCAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0303 a0001c0006t0008g0303	1	372	0.0027	30	c.49 others(41): Show c.4980_*4981insTCAGGGTCAGGGTCAGGGTGAGGGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4671		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134491	C C	CAGGGTGA others(23): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0207 a0003c0004t0004g0207	1	372	0.0027	30	c.50 others(41): Show c.5000_*5001insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4691		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134551	G G	GAGGGTGA others(23): Show GAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0080 a0002c0003t0003g0080	1	372	0.0027	30	c.50 others(41): Show c.5060_*5061insAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4751		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134587	T T	TAGGGTGA others(23): Show TAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0006 a0001c0026t0006	a0001c0026t0006g0049 a0001c0026t0006g0049	1	372	0.0027	30	c.50 others(41): Show c.5096_*5097insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4787		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134641	G G	GAGGGTCA others(23): Show GAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0222 a0002c0003t0008g0222	1	372	0.0027	30	c.51 others(41): Show c.5150_*5151insAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4841		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134675	G G	GTGAGGGT others(23): Show GTGAGGGTGAGGGTGAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	372	0.0027	30	c.51 others(41): Show c.5184_*5185insTGAGGGTGAGGGTGAGGGTGAGGGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4875		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134677	C C	CAGGTTTA others(23): Show CAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 NA18999.hp1 HG00639.hp1 NA18999.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0014 a0003c0004t0004 a0003c0004t0014	a0003c0004t0004g0212 a0003c0004t0014g0214 a0003c0004t0004g0212 a0003c0004t0014g0214	2	372	0.0054	30	c.51 others(41): Show c.5186_*5187insAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4877		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18983.hp2 NA19055.hp1 NA18941.hp1 NA18983.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0181 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0181	3	364	0.0082	30	c.18 others(41): Show c.1843_*1844insAGGGTCAGGGTCAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1548		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 NA18906.hp1 HG02622.hp2 NA18906.hp1	a0002 a0002	a0002c0012 a0002c0029 a0002c0012 a0002c0029	a0002c0012t0007 a0002c0029t0001 a0002c0012t0007 a0002c0029t0001	a0002c0012t0007g0095 a0002c0029t0001g0062 a0002c0012t0007g0095 a0002c0029t0001g0062	2	364	0.0055	30	c.18 others(41): Show c.1843_*1844insAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1548		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134395	T T	TAGGGTCA others(23): Show TAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00738.hp1 others(1): Show HG00140.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0262 a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0262	4	364	0.0110	30	c.18 others(41): Show c.1843_*1844insAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1548		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134443	T T	TAGGGTCA others(23): Show TAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02970.hp1 HG02055.hp2 HG02970.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0218 a0002c0031t0001g0220 a0002c0031t0001g0218 a0002c0031t0001g0220	2	364	0.0055	30	c.18 others(41): Show c.1891_*1892insAGGGTCAGGGTCAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1596		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134461	C C	CAGGGTCA others(23): Show CAGGGTCAGGGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0231 a0003c0016t0001g0231	1	364	0.0028	30	c.19 others(41): Show c.1909_*1910insAGGGTCAGGGTCAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1614		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134471	G G	GTCAGGGT others(23): Show GTCAGGGTCAGGGTCAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0302 a0001c0007t0001g0302	1	364	0.0028	30	c.19 others(41): Show c.1919_*1920insTCAGGGTCAGGGTCAGGGTGAGGGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1624		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134491	C C	CAGGGTGA others(23): Show CAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0203 a0004c0005t0004g0203	1	364	0.0028	30	c.19 others(41): Show c.1939_*1940insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1644		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134551	G G	GAGGGTGA others(23): Show GAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0082 a0002c0003t0001g0082	1	364	0.0028	30	c.19 others(41): Show c.1999_*2000insAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1704		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134587	T T	TAGGGTGA others(23): Show TAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0051 a0001c0045t0001g0051	1	364	0.0028	30	c.20 others(41): Show c.2035_*2036insAGGGTGAGGGTCAGGTTTAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1740		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134641	G G	GAGGGTCA others(23): Show GAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0218 a0002c0031t0001g0218	1	364	0.0028	30	c.20 others(41): Show c.2089_*2090insAGGGTCAGGTTTAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1794		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134675	G G	GTGAGGGT others(23): Show GTGAGGGTGAGGGTGAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	364	0.0028	30	c.21 others(41): Show c.2123_*2124insTGAGGGTGAGGGTGAGGGTGAGGGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1828		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134677	C C	CAGGTTTA others(23): Show CAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 NA18969.hp2 HG00639.hp1 NA18969.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0208 a0004c0005t0001g0210 a0004c0005t0001g0208 a0004c0005t0001g0210	2	364	0.0055	30	c.21 others(41): Show c.2125_*2126insAGGTTTAGGGTCAGGGTGAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1830		chr21	TogoVar
COL6A5_chr3_130340672_130489846	130472832	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0003 a0011c0012t0003	a0011c0012t0003g0084 a0011c0012t0003g0084	1	292	0.0034	30	c.781 others(47): Show c.7819+933_7819+934insTATATATATATATATATATATATATATA TA	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(23): Show TATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	262	0.0038	30	c.-12 others(51): Show c.-129+30483_-129+30484insTATATATATATATATATATAGAGA GAGAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(23): Show TATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0157	1	262	0.0038	30	c.-12 others(51): Show c.-129+30483_-129+30484insTATATATATATATATATATATATA GAGAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(23): Show ATATATATTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	262	0.0038	30	c.-3- others(47): Show c.-3-16842_-3-16841insATATATTATATATATATATATATATATA TT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(23): Show ATATTATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	262	0.0038	30	c.-3- others(47): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATATT TT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	438	0.0023	30	c.-11 others(41): Show c.-1118_-1117insAAAATATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	438	0.0023	30	c.-11 others(41): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	388	0.0026	30	c.148 others(47): Show c.148+2201_148+2202insAAAAAAAAAATATATATATATATATATA TA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAGAGA others(23): Show GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	388	0.0026	30	c.292 others(45): Show c.292+378_292+379insGAGAGAAAGAAAGAAAGAAAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3605441	C C	CGTGGGTG others(23): Show CGTGGGTGCCGAGGAGGGGGAGGGGAGTCAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	378	0.0027	30	c.130 others(45): Show c.130+989_130+990insGAGGGGAGTCATGTGGGTGCCGAGGAGGGG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01081.hp1 HG01192.hp2 others(29): Show HG00408.hp1 HG01081.hp1 HG01192.hp2 HG01516.hp1 HG02004.hp1 HG02273.hp1 HG02300.hp2 HG02572.hp2 HG02895.hp2 HG02897.hp2 HG03239.hp2 HG04204.hp1 NA18522.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18970.hp2 NA18975.hp2 NA18979.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18997.hp2 NA19002.hp2 NA19054.hp2 NA19066.hp2 NA19070.hp1 NA19081.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0005 others(4): Show a0001c0003 a0001c0004 a0001c0005 a0002c0001 a0002c0007 a0002c0012 a0003c0002	a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 others(25): Show a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0012 a0001c0003t0056 a0001c0003t0063 a0001c0003t0068 a0001c0003t0069 a0001c0004t0036 a0001c0004t0148 a0001c0004t0157 a0001c0005t0078 a0002c0001t0137 a0002c0001t0161 a0002c0001t0180 a0002c0001t0181 a0002c0001t0206 a0002c0001t0224 a0002c0007t0085 a0002c0012t0169 a0002c0012t0179 a0003c0002t0007 a0003c0002t0014 a0003c0002t0031 a0003c0002t0032 a0003c0002t0121 a0003c0002t0127 a0003c0002t0135	a0001c0003t0002g0111 a0001c0003t0004g0056 a0001c0003t0004g0071 others(29): Show a0001c0003t0002g0111 a0001c0003t0004g0056 a0001c0003t0004g0071 a0001c0003t0004g0279 a0001c0003t0006g0018 a0001c0003t0012g0142 a0001c0003t0056g0174 a0001c0003t0063g0295 a0001c0003t0068g0108 a0001c0003t0069g0170 a0001c0004t0036g0271 a0001c0004t0036g0315 a0001c0004t0148g0096 a0001c0004t0157g0212 a0001c0005t0078g0206 a0002c0001t0137g0310 a0002c0001t0161g0286 a0002c0001t0180g0070 a0002c0001t0181g0269 a0002c0001t0206g0138 a0002c0001t0224g0158 a0002c0007t0085g0030 a0002c0012t0169g0184 a0002c0012t0179g0327 a0003c0002t0007g0051 a0003c0002t0014g0224 a0003c0002t0031g0023 a0003c0002t0031g0024 a0003c0002t0032g0293 a0003c0002t0121g0086 a0003c0002t0127g0163 a0003c0002t0135g0098	32	366	0.0874	30	c.78 others(41): Show c.7837_*7838insATATATATATATATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COMMD10_chr5_116080025_116298287	116157799	G G	GTGTATAT others(23): Show GTGTATATAAGTTGTGATTGTTCTACATCAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	350	0.0029	30	c.510 others(49): Show c.510+23622_510+23651dupTGTATATAAGTTGTGATTGTTCTACA TCAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158482	T T	TCCCTCTC others(23): Show TCCCTCTCCCCTCTCCCCCTCTCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	350	0.0029	30	c.510 others(49): Show c.510+24312_510+24313insCCTCTCCCCCTCTCCCCTCTCCCCCT CTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158485	C C	CTCTCCTC others(23): Show CTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp2 HG01884.hp2 others(4): Show HG00738.hp2 HG01255.hp2 HG01884.hp2 NA18986.hp2 NA19009.hp1 NA19086.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0297 a0001c0001t0001g0301 others(4): Show a0001c0001t0001g0195 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0320	7	350	0.0200	30	c.510 others(49): Show c.510+24318_510+24319insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212496	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01943.hp1 HG02970.hp1 others(3): Show HG00621.hp1 HG01943.hp1 HG02970.hp1 HG04204.hp2 NA18964.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0191 a0001c0001t0001g0206 a0001c0001t0001g0239 others(3): Show a0001c0001t0001g0191 a0001c0001t0001g0206 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0005t0001g0145	6	350	0.0171	30	c.510 others(49): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212522	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00673.hp1 others(18): Show HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG02015.hp1 HG02129.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG03239.hp1 HG03654.hp2 HG03669.hp1 HG04228.hp2 NA18943.hp1 NA18999.hp2 NA19057.hp1 NA19066.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 others(18): Show a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0256 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0137 a0001c0002t0001g0144 a0001c0002t0001g0170	21	350	0.0600	30	c.510 others(49): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTGTGT GTAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG02809.hp1 others(7): Show HG02109.hp1 HG02622.hp2 HG02809.hp1 NA18944.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA19030.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0101 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0165 a0001c0001t0001g0221 a0001c0001t0001g0257 a0001c0003t0001g0272	10	286	0.0350	30	c.462 others(49): Show c.462+62887_462+62916dupATATATATATATATATATATATATAT ATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62095807	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(18): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00639.hp1 HG02056.hp1 HG02129.hp1 HG02723.hp1 HG02735.hp2 HG03195.hp2 HG03471.hp2 HG03492.hp2 HG04199.hp2 HG04204.hp1 NA18952.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA19012.hp2 NA19054.hp1 NA19079.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0057 others(18): Show a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0285 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0005t0001g0126	21	286	0.0734	30	c.463 others(49): Show c.463-40010_463-40009insATATATATATATATATATATATATAT ATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD7_chr20_32697699_32748467	32723125	C C	CCTCTCCC others(23): Show CCTCTCCCTCTCCCTCCCTCTCCGTCTCCGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0287 a0001c0001t0009g0287	1	400	0.0025	30	c.241 others(47): Show c.241+4767_241+4768insACGGAGACGGAGAGGGAGGGAGAGGGAG AG	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	3/8			chr20	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02572.hp1 HG03942.hp1 others(5): Show HG00408.hp2 HG02572.hp1 HG03942.hp1 NA18612.hp1 NA18950.hp1 NA18961.hp1 NA18986.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0043 others(4): Show a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0216 a0001c0001t0003g0221 a0001c0001t0005g0147	8	448	0.0179	30	c.44 others(41): Show c.4494_*4495insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COMP_chr19_18777773_18796305	18787864	C C	CTTTTTCT others(23): Show CTTTTTCTTTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03669.hp2 HG02615.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0171 a0001c0001t0001g0061 a0001c0001t0001g0171	2	398	0.0050	30	c.976 others(45): Show c.976-215_976-214insAAGAAAGAAAGAAAGAAAGAAAAAGAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	9/18			chr19	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03130.hp1 NA19005.hp1 others(2): Show HG02809.hp1 HG03130.hp1 NA19005.hp1 NA19056.hp1 NA19080.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0004c0005t0001	a0001c0001t0001g0067 a0001c0001t0001g0126 a0001c0001t0004g0279 others(2): Show a0001c0001t0001g0067 a0001c0001t0001g0126 a0001c0001t0004g0279 a0001c0002t0002g0011 a0004c0005t0001g0031	5	300	0.0167	30	c.213 others(49): Show c.2134-4199_2134-4198insATATATATATATATATATATATATAT ATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar

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