Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL4A6_chrX_108150614_108443422	108408356	AGAAAGAA others(5): Show AGAAAGAAAGAAC	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0011 a0004c0006t0001g0011	1	234	0.0043	-12	c.63+ others(29): Show c.63+29574_63+29585delGTTCTTTCTTTC	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108425167	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG04228.hp1 NA19004.hp1 HG02523.hp1 HG04228.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0002g0008 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0002g0008	3	234	0.0128	-12	c.63+ others(29): Show c.63+12763_63+12774delCACACACACACA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL5A1_chr9_134636803_134849843	134685816	TCATCCAT others(5): Show TCATCCATCCATC	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0117 a0001c0002t0005g0117	1	272	0.0037	-12	c.110 others(29): Show c.110-5085_110-5074delTCCATCCATCCA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134689828	CCGCCCCA others(5): Show CCGCCCCAACACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(82): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01515.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02300.hp2 HG02602.hp2 HG02970.hp2 HG03017.hp2 HG03490.hp2 HG03492.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18950.hp1 NA18961.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18983.hp1 NA18986.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19057.hp1 NA19057.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19087.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0022 a0001c0028 a0001c0046 a0001c0057 a0001c0058 a0002c0013 a0002c0017 a0002c0041 a0002c0042 a0003c0020 a0003c0021 a0003c0038 a0005c0062 a0007c0066 a0008c0030 a0009c0054	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0024 a0001c0001t0027 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0055 a0001c0002t0056 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0049 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0005t0022 a0001c0005t0054 a0001c0008t0001 a0001c0008t0011 a0001c0008t0034 a0001c0010t0003 a0001c0011t0003 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0014t0002 a0001c0022t0002 a0001c0028t0038 a0001c0046t0001 a0001c0057t0002 a0001c0058t0002 a0002c0013t0003 a0002c0017t0003 a0002c0041t0002 a0002c0042t0002 a0003c0020t0001 a0003c0021t0001 a0003c0038t0001 a0005c0062t0011 a0007c0066t0001 a0008c0030t0001 a0009c0054t0002	a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0147 others(82): Show a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0116 a0001c0001t0002g0139 a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0245 a0001c0001t0003g0146 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0155 a0001c0001t0006g0110 a0001c0001t0006g0129 a0001c0001t0024g0216 a0001c0001t0024g0217 a0001c0001t0027g0210 a0001c0001t0059g0093 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0177 a0001c0002t0001g0209 a0001c0002t0002g0030 a0001c0002t0002g0077 a0001c0002t0002g0126 a0001c0002t0002g0160 a0001c0002t0003g0083 a0001c0002t0003g0154 a0001c0002t0004g0015 a0001c0002t0004g0150 a0001c0002t0005g0060 a0001c0002t0005g0211 a0001c0002t0006g0250 a0001c0002t0055g0152 a0001c0002t0056g0162 a0001c0003t0001g0153 a0001c0003t0001g0219 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0002g0142 a0001c0003t0002g0246 a0001c0003t0003g0201 a0001c0003t0049g0158 a0001c0004t0001g0013 a0001c0004t0001g0225 a0001c0004t0002g0172 a0001c0004t0004g0089 a0001c0005t0022g0085 a0001c0005t0054g0167 a0001c0008t0001g0087 a0001c0008t0001g0114 a0001c0008t0001g0149 a0001c0008t0011g0091 a0001c0008t0034g0151 a0001c0010t0003g0068 a0001c0011t0003g0143 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0086 a0001c0014t0002g0161 a0001c0022t0002g0159 a0001c0028t0038g0138 a0001c0046t0001g0239 a0001c0057t0002g0024 a0001c0058t0002g0127 a0002c0013t0003g0061 a0002c0013t0003g0076 a0002c0017t0003g0163 a0002c0017t0003g0223 a0002c0041t0002g0164 a0002c0042t0002g0234 a0003c0020t0001g0120 a0003c0020t0001g0121 a0003c0021t0001g0157 a0003c0021t0001g0166 a0003c0038t0001g0136 a0005c0062t0011g0026 a0007c0066t0001g0235 a0008c0030t0001g0137 a0009c0054t0002g0141	85	272	0.3125	-12	c.110 others(29): Show c.110-1082_110-1071delGCCCCAACACAC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134744883	CTGCACAC others(5): Show CTGCACACACACT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02486.hp2 others(10): Show HG02145.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp2 NA18983.hp1 NA19064.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(3): Show a0001c0001 a0001c0005 a0001c0007 a0001c0024 a0001c0049 a0001c0051	a0001c0001t0003 a0001c0001t0020 a0001c0001t0031 others(10): Show a0001c0001t0003 a0001c0001t0020 a0001c0001t0031 a0001c0005t0003 a0001c0005t0006 a0001c0005t0014 a0001c0007t0004 a0001c0007t0015 a0001c0007t0017 a0001c0007t0023 a0001c0024t0001 a0001c0049t0003 a0001c0051t0007	a0001c0001t0003g0146 a0001c0001t0020g0194 a0001c0001t0031g0075 others(10): Show a0001c0001t0003g0146 a0001c0001t0020g0194 a0001c0001t0031g0075 a0001c0005t0003g0265 a0001c0005t0006g0040 a0001c0005t0014g0258 a0001c0007t0004g0028 a0001c0007t0015g0200 a0001c0007t0017g0241 a0001c0007t0023g0232 a0001c0024t0001g0207 a0001c0049t0003g0183 a0001c0051t0007g0202	13	272	0.0478	-12	c.149 others(31): Show c.1495-5658_1495-5647delTGCACACACACT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	11/65			chr9	TogoVar
COL5A1_chr9_134636803_134849843	134790605	CCCATCCA others(5): Show CCCATCCATCCAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0014 a0014	a0014c0053 a0014c0053	a0014c0053t0029 a0014c0053t0029	a0014c0053t0029g0134 a0014c0053t0029g0134	1	272	0.0037	-12	c.270 others(31): Show c.2700+1431_2700+1442delCATCCATCCATC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	32/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134792760	TGTGTGTG others(5): Show TGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02717.hp1 others(2): Show HG02258.hp2 HG02451.hp2 HG02717.hp1 HG03195.hp1 NA21309.hp1	a0001 a0014 a0001 a0014	a0001c0003 a0001c0007 a0001c0011 others(1): Show a0001c0003 a0001c0007 a0001c0011 a0014c0053	a0001c0003t0007 a0001c0003t0032 a0001c0007t0014 others(2): Show a0001c0003t0007 a0001c0003t0032 a0001c0007t0014 a0001c0011t0007 a0014c0053t0029	a0001c0003t0007g0003 a0001c0003t0032g0004 a0001c0007t0014g0044 others(2): Show a0001c0003t0007g0003 a0001c0003t0032g0004 a0001c0007t0014g0044 a0001c0011t0007g0027 a0014c0053t0029g0134	5	272	0.0184	-12	c.270 others(31): Show c.2701-2313_2701-2302delGTGCGTGTGTGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	32/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134792772	CGTGTGTG others(5): Show CGTGTGTGTACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(87): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18943.hp1 NA18961.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19067.hp1 NA19070.hp1 NA19087.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0014 a0001c0015 a0001c0022 a0001c0024 a0001c0025 a0001c0027 a0001c0036 a0001c0044 a0001c0047 a0001c0058 a0002c0017 a0002c0041 a0002c0042 a0006c0034 a0011c0035 a0012c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0020 a0001c0001t0024 a0001c0001t0027 a0001c0001t0037 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0001c0002t0013 a0001c0002t0016 a0001c0002t0042 a0001c0003t0015 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0011 a0001c0005t0001 a0001c0005t0009 a0001c0005t0022 a0001c0005t0053 a0001c0006t0007 a0001c0006t0019 a0001c0007t0015 a0001c0007t0017 a0001c0008t0034 a0001c0009t0003 a0001c0009t0023 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0014t0002 a0001c0015t0001 a0001c0022t0001 a0001c0024t0001 a0001c0025t0015 a0001c0027t0002 a0001c0036t0035 a0001c0044t0057 a0001c0047t0003 a0001c0058t0002 a0002c0017t0003 a0002c0041t0002 a0002c0042t0002 a0006c0034t0009 a0011c0035t0012 a0012c0043t0043	a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0088 others(87): Show a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0088 a0001c0001t0001g0147 a0001c0001t0001g0212 a0001c0001t0002g0081 a0001c0001t0002g0111 a0001c0001t0002g0122 a0001c0001t0002g0165 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0004g0102 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0006g0110 a0001c0001t0006g0129 a0001c0001t0007g0248 a0001c0001t0011g0229 a0001c0001t0020g0194 a0001c0001t0024g0216 a0001c0001t0024g0217 a0001c0001t0027g0210 a0001c0001t0037g0053 a0001c0001t0059g0093 a0001c0002t0001g0050 a0001c0002t0001g0058 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0148 a0001c0002t0001g0177 a0001c0002t0001g0209 a0001c0002t0001g0221 a0001c0002t0001g0236 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0002g0062 a0001c0002t0002g0126 a0001c0002t0002g0160 a0001c0002t0002g0171 a0001c0002t0003g0154 a0001c0002t0004g0150 a0001c0002t0005g0025 a0001c0002t0005g0065 a0001c0002t0006g0250 a0001c0002t0011g0095 a0001c0002t0013g0140 a0001c0002t0013g0168 a0001c0002t0016g0237 a0001c0002t0042g0185 a0001c0003t0015g0188 a0001c0004t0001g0170 a0001c0004t0001g0225 a0001c0004t0002g0046 a0001c0004t0003g0064 a0001c0004t0004g0224 a0001c0004t0011g0080 a0001c0005t0001g0107 a0001c0005t0009g0256 a0001c0005t0022g0085 a0001c0005t0053g0105 a0001c0006t0007g0103 a0001c0006t0019g0264 a0001c0007t0015g0200 a0001c0007t0017g0241 a0001c0008t0034g0151 a0001c0009t0003g0261 a0001c0009t0023g0263 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0086 a0001c0014t0002g0066 a0001c0014t0002g0067 a0001c0014t0002g0161 a0001c0015t0001g0268 a0001c0022t0001g0181 a0001c0024t0001g0207 a0001c0025t0015g0007 a0001c0027t0002g0090 a0001c0036t0035g0045 a0001c0044t0057g0042 a0001c0047t0003g0032 a0001c0058t0002g0127 a0002c0017t0003g0118 a0002c0017t0003g0163 a0002c0041t0002g0164 a0002c0042t0002g0234 a0006c0034t0009g0193 a0011c0035t0012g0008 a0012c0043t0043g0037	90	272	0.3309	-12	c.270 others(31): Show c.2701-2309_2701-2298delGTGTGTGTACAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	32/65			chr9	TogoVar
COL5A1_chr9_134636803_134849843	134846933	TCATTCAT others(5): Show TCATTCATCCATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0009 a0009	a0009c0054 a0009c0054	a0009c0054t0002 a0009c0054t0002	a0009c0054t0002g0141 a0009c0054t0002g0141	1	272	0.0037	-12	c.46 others(23): Show c.4631_*4642delCATTCATCCATC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		2091		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134847028	TATCCATC others(5): Show TATCCATCCATCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0175 a0001c0001t0002g0176	2	272	0.0074	-12	c.47 others(23): Show c.4726_*4737delATCCATCCATCC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		2186		chr9	TogoVar
COL5A2_chr2_189026898_189184761	189030059	TAAAAAAA others(5): Show TAAAAAAAAAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01358.hp1 HG01106.hp1 HG01358.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0168 a0001c0003t0011g0169 a0001c0003t0011g0168 a0001c0003t0011g0169	2	248	0.0081	-12	c.39 others(23): Show c.3999_*4010delTATTTTTTTTTT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding		1838		chr2	TogoVar
COL5A2_chr2_189026898_189184761	189072765	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0004 a0011c0023t0004	a0011c0023t0004g0117 a0011c0023t0004g0117	1	248	0.0040	-12	c.110 others(29): Show c.1105-684_1105-673delTTTTTTTTTTTT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	17/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189087693	TCCTGACC others(5): Show TCCTGACCTTGTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01081.hp2 others(40): Show HG00280.hp1 HG00597.hp1 HG01081.hp2 HG01106.hp2 HG01192.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02135.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp2 HG02897.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18950.hp1 NA18960.hp1 NA18965.hp2 NA18969.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA19007.hp1 NA19030.hp2 NA19057.hp1 NA19062.hp2 NA19065.hp1 NA19070.hp1 NA19084.hp2 NA19091.hp2 NA21309.hp2	a0001 a0002 a0009 others(4): Show a0001 a0002 a0009 a0010 a0011 a0013 a0015	a0001c0001 a0001c0002 a0001c0021 others(7): Show a0001c0001 a0001c0002 a0001c0021 a0001c0030 a0002c0006 a0009c0016 a0010c0024 a0011c0023 a0013c0017 a0015c0022	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0014 a0001c0002t0020 a0001c0021t0002 a0001c0030t0016 a0002c0006t0005 a0002c0006t0017 a0009c0016t0006 a0010c0024t0004 a0011c0023t0004 a0013c0017t0006 a0015c0022t0002	a0001c0001t0001g0030 a0001c0001t0001g0163 a0001c0001t0004g0005 others(40): Show a0001c0001t0001g0030 a0001c0001t0001g0163 a0001c0001t0004g0005 a0001c0001t0004g0043 a0001c0001t0004g0081 a0001c0001t0004g0149 a0001c0001t0004g0193 a0001c0001t0004g0221 a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0052 a0001c0002t0002g0060 a0001c0002t0002g0092 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0014g0242 a0001c0002t0014g0244 a0001c0002t0020g0038 a0001c0021t0002g0142 a0001c0030t0016g0017 a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 a0009c0016t0006g0130 a0010c0024t0004g0065 a0011c0023t0004g0117 a0013c0017t0006g0034 a0015c0022t0002g0035	43	248	0.1734	-12	c.646 others(27): Show c.646-935_646-924delCACAAGGTCAGG	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	8/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189094588	GACACACA others(5): Show GACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	248	0.0040	-12	c.457 others(29): Show c.457-2180_457-2169delGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp2 NA18940.hp2 others(1): Show HG02280.hp2 HG02965.hp2 NA18940.hp2 NA18975.hp1	a0004 a0005 a0017 others(1): Show a0004 a0005 a0017 a0068	a0004c0010 a0005c0005 a0017c0026 others(1): Show a0004c0010 a0005c0005 a0017c0026 a0068c0101	a0004c0010t0004 a0005c0005t0010 a0017c0026t0002 others(1): Show a0004c0010t0004 a0005c0005t0010 a0017c0026t0002 a0068c0101t0004	a0004c0010t0004g0161 a0005c0005t0010g0261 a0017c0026t0002g0401 others(1): Show a0004c0010t0004g0161 a0005c0005t0010g0261 a0017c0026t0002g0401 a0068c0101t0004g0039	4	412	0.0097	-12	c.478 others(31): Show c.4782+1448_4782+1459delTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9967460	TACACACA others(5): Show TACACACAAACAC	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18945.hp2 NA18960.hp1 others(2): Show NA18939.hp1 NA18945.hp2 NA18960.hp1 NA18983.hp2 NA19002.hp1	a0002 a0016 a0002 a0016	a0002c0020 a0016c0037 a0016c0074 a0002c0020 a0016c0037 a0016c0074	a0002c0020t0002 a0016c0037t0002 a0016c0074t0002 a0002c0020t0002 a0016c0037t0002 a0016c0074t0002	a0002c0020t0002g0096 a0016c0037t0002g0249 a0016c0037t0002g0250 others(2): Show a0002c0020t0002g0096 a0016c0037t0002g0249 a0016c0037t0002g0250 a0016c0037t0002g0251 a0016c0074t0002g0134	5	412	0.0121	-12	c.440 others(27): Show c.4405-72_4405-61delGTGTTTGTGTGT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	61/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9977947	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01168.hp1 others(5): Show HG00639.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01978.hp2 HG02698.hp2 HG03710.hp2 NA21309.hp1	a0020 a0021 a0022 others(1): Show a0020 a0021 a0022 a0029	a0020c0035 a0020c0097 a0021c0066 others(2): Show a0020c0035 a0020c0097 a0021c0066 a0022c0030 a0029c0088	a0020c0035t0002 a0020c0097t0002 a0021c0066t0003 others(2): Show a0020c0035t0002 a0020c0097t0002 a0021c0066t0003 a0022c0030t0002 a0029c0088t0002	a0020c0035t0002g0003 a0020c0035t0002g0403 a0020c0097t0002g0025 others(4): Show a0020c0035t0002g0003 a0020c0035t0002g0403 a0020c0097t0002g0025 a0021c0066t0003g0295 a0022c0030t0002g0293 a0022c0030t0002g0294 a0029c0088t0002g0255	8	412	0.0194	-12	c.301 others(29): Show c.3019-258_3019-247delATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	41/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983529	GAAGAAAG others(5): Show GAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00621.hp2 others(38): Show HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00738.hp1 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01934.hp2 HG01993.hp1 HG02293.hp2 HG02572.hp1 HG02622.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18954.hp1 NA18963.hp2 NA18965.hp2 NA18984.hp2 NA18987.hp1 NA18994.hp2 NA18999.hp1 NA19003.hp1 NA19010.hp1 NA19010.hp2 NA19064.hp1 NA19074.hp1 NA19087.hp1 NA19091.hp2 NA20905.hp2	a0001 a0002 a0005 others(14): Show a0001 a0002 a0005 a0006 a0007 a0009 a0010 a0015 a0017 a0024 a0026 a0030 a0032 a0043 a0048 a0055 a0060	a0001c0001 a0001c0003 a0001c0016 others(20): Show a0001c0001 a0001c0003 a0001c0016 a0001c0033 a0002c0083 a0005c0005 a0006c0055 a0006c0082 a0007c0023 a0009c0007 a0010c0015 a0015c0019 a0015c0072 a0015c0104 a0017c0026 a0024c0039 a0026c0056 a0030c0080 a0032c0122 a0043c0061 a0048c0137 a0055c0116 a0060c0123	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0016t0001 a0001c0016t0002 a0001c0033t0011 a0002c0083t0005 a0005c0005t0001 a0006c0055t0001 a0006c0082t0007 a0007c0023t0003 a0009c0007t0001 a0009c0007t0010 a0010c0015t0002 a0015c0019t0005 a0015c0072t0005 a0015c0104t0003 a0017c0026t0002 a0024c0039t0014 a0026c0056t0002 a0030c0080t0015 a0032c0122t0001 a0043c0061t0003 a0048c0137t0002 a0055c0116t0002 a0060c0123t0001	a0001c0001t0001g0087 a0001c0001t0001g0125 a0001c0001t0001g0306 others(38): Show a0001c0001t0001g0087 a0001c0001t0001g0125 a0001c0001t0001g0306 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0360 a0001c0001t0001g0371 a0001c0001t0001g0381 a0001c0001t0004g0084 a0001c0001t0005g0092 a0001c0003t0001g0271 a0001c0003t0001g0283 a0001c0016t0001g0372 a0001c0016t0002g0366 a0001c0033t0011g0154 a0002c0083t0005g0156 a0005c0005t0001g0179 a0005c0005t0001g0193 a0005c0005t0001g0197 a0006c0055t0001g0399 a0006c0082t0007g0169 a0007c0023t0003g0119 a0009c0007t0001g0240 a0009c0007t0010g0122 a0010c0015t0002g0247 a0015c0019t0005g0149 a0015c0072t0005g0152 a0015c0104t0003g0241 a0017c0026t0002g0391 a0017c0026t0002g0392 a0017c0026t0002g0401 a0024c0039t0014g0182 a0026c0056t0002g0303 a0030c0080t0015g0110 a0032c0122t0001g0170 a0043c0061t0003g0260 a0048c0137t0002g0060 a0055c0116t0002g0112 a0060c0123t0001g0388	41	412	0.0995	-12	c.240 others(31): Show c.2407-1423_2407-1412delTCTTTCTTTCTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9994559	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00597.hp1 others(28): Show HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG01256.hp1 HG01515.hp2 HG01975.hp1 HG02293.hp1 HG02602.hp2 HG02965.hp1 HG03139.hp2 HG03239.hp2 HG03688.hp2 HG03831.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18946.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18965.hp1 NA18966.hp1 NA18975.hp2 NA18978.hp2 NA18982.hp1 NA18990.hp1 NA18994.hp1 NA18999.hp1 NA19067.hp1	a0002 a0003 a0006 others(9): Show a0002 a0003 a0006 a0011 a0012 a0014 a0018 a0049 a0054 a0055 a0065 a0069	a0002c0020 a0002c0041 a0003c0009 others(14): Show a0002c0020 a0002c0041 a0003c0009 a0003c0011 a0003c0125 a0003c0136 a0006c0014 a0011c0006 a0012c0017 a0012c0025 a0014c0065 a0018c0018 a0049c0079 a0054c0118 a0055c0116 a0065c0103 a0069c0099	a0002c0020t0001 a0002c0041t0001 a0003c0009t0003 others(21): Show a0002c0020t0001 a0002c0041t0001 a0003c0009t0003 a0003c0011t0003 a0003c0011t0006 a0003c0011t0009 a0003c0125t0003 a0003c0136t0009 a0006c0014t0001 a0011c0006t0003 a0011c0006t0006 a0011c0006t0016 a0011c0006t0018 a0012c0017t0001 a0012c0017t0002 a0012c0025t0001 a0014c0065t0001 a0018c0018t0003 a0018c0018t0009 a0049c0079t0003 a0054c0118t0002 a0055c0116t0002 a0065c0103t0003 a0069c0099t0002	a0002c0020t0001g0105 a0002c0041t0001g0215 a0003c0009t0003g0077 others(28): Show a0002c0020t0001g0105 a0002c0041t0001g0215 a0003c0009t0003g0077 a0003c0011t0003g0142 a0003c0011t0006g0214 a0003c0011t0009g0281 a0003c0125t0003g0369 a0003c0136t0009g0066 a0006c0014t0001g0330 a0006c0014t0001g0379 a0006c0014t0001g0380 a0006c0014t0001g0386 a0011c0006t0003g0132 a0011c0006t0003g0175 a0011c0006t0003g0188 a0011c0006t0006g0189 a0011c0006t0016g0171 a0011c0006t0018g0056 a0012c0017t0001g0120 a0012c0017t0002g0270 a0012c0025t0001g0151 a0014c0065t0001g0206 a0018c0018t0003g0010 a0018c0018t0003g0011 a0018c0018t0009g0019 a0018c0018t0009g0020 a0049c0079t0003g0338 a0054c0118t0002g0287 a0055c0116t0002g0112 a0065c0103t0003g0224 a0069c0099t0002g0040	31	412	0.0752	-12	c.158 others(29): Show c.1588-765_1588-754delATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	16/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9999136	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(117): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18949.hp1 NA18956.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18969.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18998.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0015 a0016 a0017 a0019 a0029 a0035 a0046 a0047 a0048 a0050 a0052 a0053 a0056 a0058 a0062 a0076	a0001c0001 a0001c0016 a0001c0024 others(40): Show a0001c0001 a0001c0016 a0001c0024 a0001c0045 a0001c0089 a0001c0111 a0001c0117 a0002c0002 a0002c0034 a0002c0053 a0002c0126 a0002c0130 a0003c0009 a0003c0125 a0004c0108 a0005c0005 a0006c0055 a0007c0021 a0007c0032 a0008c0004 a0009c0007 a0009c0048 a0010c0015 a0012c0025 a0014c0012 a0015c0019 a0015c0104 a0016c0036 a0017c0026 a0017c0120 a0019c0069 a0029c0124 a0035c0047 a0046c0075 a0047c0133 a0048c0137 a0050c0115 a0052c0128 a0053c0129 a0056c0121 a0058c0132 a0062c0110 a0076c0143	a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 a0001c0016t0002 a0001c0024t0001 a0001c0045t0001 a0001c0089t0001 a0001c0111t0001 a0001c0117t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0034t0002 a0002c0053t0001 a0002c0126t0001 a0002c0130t0001 a0003c0009t0003 a0003c0125t0003 a0004c0108t0004 a0005c0005t0001 a0006c0055t0001 a0006c0055t0002 a0007c0021t0008 a0007c0032t0007 a0007c0032t0008 a0008c0004t0001 a0009c0007t0001 a0009c0007t0005 a0009c0007t0010 a0009c0007t0022 a0009c0007t0024 a0009c0048t0001 a0010c0015t0001 a0010c0015t0002 a0012c0025t0002 a0012c0025t0003 a0014c0012t0001 a0015c0019t0002 a0015c0019t0005 a0015c0104t0003 a0016c0036t0001 a0016c0036t0002 a0017c0026t0002 a0017c0120t0002 a0019c0069t0002 a0029c0124t0001 a0035c0047t0001 a0046c0075t0007 a0047c0133t0001 a0048c0137t0002 a0050c0115t0002 a0052c0128t0001 a0053c0129t0006 a0056c0121t0001 a0058c0132t0020 a0062c0110t0001 a0076c0143t0010	a0001c0001t0001g0150 a0001c0001t0001g0219 a0001c0001t0001g0320 others(115): Show a0001c0001t0001g0150 a0001c0001t0001g0219 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0346 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0002g0279 a0001c0001t0002g0328 a0001c0001t0002g0361 a0001c0001t0002g0363 a0001c0016t0001g0278 a0001c0016t0001g0372 a0001c0016t0002g0001 a0001c0016t0002g0366 a0001c0024t0001g0273 a0001c0024t0001g0274 a0001c0024t0001g0343 a0001c0045t0001g0140 a0001c0089t0001g0225 a0001c0111t0001g0324 a0001c0117t0005g0248 a0002c0002t0001g0069 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0319 a0002c0002t0002g0078 a0002c0002t0002g0218 a0002c0002t0002g0285 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0312 a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0342 a0002c0002t0002g0345 a0002c0002t0002g0364 a0002c0002t0002g0365 a0002c0002t0002g0368 a0002c0002t0002g0374 a0002c0002t0002g0408 a0002c0002t0005g0065 a0002c0034t0002g0121 a0002c0034t0002g0163 a0002c0053t0001g0382 a0002c0126t0001g0118 a0002c0130t0001g0314 a0003c0009t0003g0323 a0003c0009t0003g0327 a0003c0009t0003g0395 a0003c0125t0003g0369 a0004c0108t0004g0362 a0005c0005t0001g0107 a0005c0005t0001g0177 a0006c0055t0001g0399 a0006c0055t0002g0305 a0007c0021t0008g0002 a0007c0021t0008g0393 a0007c0021t0008g0396 a0007c0021t0008g0398 a0007c0032t0007g0114 a0007c0032t0008g0037 a0008c0004t0001g0008 a0009c0007t0001g0229 a0009c0007t0001g0231 a0009c0007t0001g0239 a0009c0007t0001g0240 a0009c0007t0001g0242 a0009c0007t0005g0230 a0009c0007t0010g0122 a0009c0007t0022g0076 a0009c0007t0024g0109 a0009c0048t0001g0238 a0010c0015t0001g0254 a0010c0015t0001g0376 a0010c0015t0001g0377 a0010c0015t0002g0247 a0012c0025t0002g0317 a0012c0025t0003g0394 a0014c0012t0001g0200 a0014c0012t0001g0201 a0014c0012t0001g0202 a0014c0012t0001g0203 a0014c0012t0001g0204 a0014c0012t0001g0205 a0014c0012t0001g0332 a0015c0019t0002g0123 a0015c0019t0005g0149 a0015c0104t0003g0241 a0016c0036t0001g0236 a0016c0036t0001g0237 a0016c0036t0002g0148 a0017c0026t0002g0391 a0017c0026t0002g0392 a0017c0026t0002g0401 a0017c0120t0002g0400 a0019c0069t0002g0334 a0029c0124t0001g0217 a0035c0047t0001g0275 a0035c0047t0001g0276 a0046c0075t0007g0053 a0047c0133t0001g0367 a0048c0137t0002g0060 a0050c0115t0002g0390 a0052c0128t0001g0277 a0053c0129t0006g0058 a0056c0121t0001g0406 a0058c0132t0020g0208 a0062c0110t0001g0326 a0076c0143t0010g0409	120	412	0.2913	-12	c.111 others(29): Show c.1111-999_1111-988delGGAAGGAAGGAA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	8/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	10000452	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG03225.hp1 HG02723.hp1 HG02895.hp1 HG03225.hp1	a0017 a0031 a0017 a0031	a0017c0026 a0031c0043 a0017c0026 a0031c0043	a0017c0026t0002 a0031c0043t0006 a0031c0043t0007 a0017c0026t0002 a0031c0043t0006 a0031c0043t0007	a0017c0026t0002g0402 a0031c0043t0006g0055 a0031c0043t0007g0054 a0017c0026t0002g0402 a0031c0043t0006g0055 a0031c0043t0007g0054	3	412	0.0073	-12	c.111 others(31): Show c.1110+1060_1110+1071delAAAAAAAAAAAA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	8/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981594	TCCCCTCC others(5): Show TCCCCTCCCGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0026 a0001c0003t0003g0026	1	128	0.0078	-12	c.-25 others(21): Show c.-256_-245delCCCCTCCCGCCC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		175		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45984771	AACAGAGA others(5): Show AACAGAGACAGAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp1 HG02922.hp1 others(2): Show HG02809.hp2 HG02886.hp1 HG02922.hp1 HG03453.hp2 NA19043.hp1	a0001 a0015 a0001 a0015	a0001c0010 a0001c0012 a0015c0027 a0001c0010 a0001c0012 a0015c0027	a0001c0010t0005 a0001c0012t0005 a0015c0027t0005 a0001c0010t0005 a0001c0012t0005 a0015c0027t0005	a0001c0010t0005g0072 a0001c0010t0005g0075 a0001c0012t0005g0073 others(2): Show a0001c0010t0005g0072 a0001c0010t0005g0075 a0001c0012t0005g0073 a0001c0012t0005g0074 a0015c0027t0005g0076	5	128	0.0391	-12	c.428 others(27): Show c.428+312_428+323delGAGACAGAGACA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46101847	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0193 a0003c0004t0011g0193	1	372	0.0027	-12	c.-28 others(29): Show c.-28+3691_-28+3702delTTTTTTTTTTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134383	CAGGGTCA others(5): Show CAGGGTCAGATTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0201 a0001c0002t0007g0201	1	372	0.0027	-12	c.48 others(23): Show c.4893_*4904delAGGGTCAGATTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4583		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134413	CAGGGTCA others(5): Show CAGGGTCAGGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01516.hp1 HG01517.hp2 others(2): Show HG01243.hp1 HG01516.hp1 HG01517.hp2 HG03239.hp2 HG04199.hp2	a0003 a0003	a0003c0007 a0003c0033 a0003c0007 a0003c0033	a0003c0007t0007 a0003c0033t0007 a0003c0007t0007 a0003c0033t0007	a0003c0007t0007g0013 a0003c0007t0007g0043 a0003c0007t0007g0203 others(1): Show a0003c0007t0007g0013 a0003c0007t0007g0043 a0003c0007t0007g0203 a0003c0033t0007g0202	5	372	0.0134	-12	c.49 others(23): Show c.4923_*4934delAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4613		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134587	TAGGGTCA others(5): Show TAGGGTCAGGGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03453.hp1 HG01891.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0237 a0001c0006t0005g0238 a0001c0006t0005g0237 a0001c0006t0005g0238	2	372	0.0054	-12	c.50 others(23): Show c.5097_*5108delAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4787		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46101847	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0189 a0003c0010t0001g0189	1	364	0.0028	-12	c.-28 others(29): Show c.-28+3691_-28+3702delTTTTTTTTTTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134383	CAGGGTCA others(5): Show CAGGGTCAGATTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0003 a0001c0044t0003	a0001c0044t0003g0197 a0001c0044t0003g0197	1	364	0.0028	-12	c.18 others(23): Show c.1832_*1843delAGGGTCAGATTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1536		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134413	CAGGGTCA others(5): Show CAGGGTCAGGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01516.hp1 HG01517.hp2 others(2): Show HG01243.hp1 HG01516.hp1 HG01517.hp2 HG03239.hp2 HG04199.hp2	a0003 a0008 a0003 a0008	a0003c0008 a0003c0054 a0008c0027 a0003c0008 a0003c0054 a0008c0027	a0003c0008t0003 a0003c0054t0003 a0008c0027t0003 a0003c0008t0003 a0003c0054t0003 a0008c0027t0003	a0003c0008t0003g0045 a0003c0008t0003g0199 a0003c0054t0003g0198 others(1): Show a0003c0008t0003g0045 a0003c0008t0003g0199 a0003c0054t0003g0198 a0008c0027t0003g0013	5	364	0.0137	-12	c.18 others(23): Show c.1862_*1873delAGGGTCAGGTTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1566		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134587	TAGGGTCA others(5): Show TAGGGTCAGGGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03453.hp1 HG01891.hp1 HG03453.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0005 a0001c0026t0005	a0001c0026t0005g0233 a0001c0026t0005g0234 a0001c0026t0005g0233 a0001c0026t0005g0234	2	364	0.0055	-12	c.20 others(23): Show c.2036_*2047delAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1740		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135340	CAATGTCC others(5): Show CAATGTCCCCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00738.hp1 others(6): Show HG00140.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01106.hp1 HG01515.hp1 HG01517.hp1 HG01978.hp1 NA19088.hp2	a0001 a0001	a0001c0009 a0001c0015 a0001c0024 a0001c0009 a0001c0015 a0001c0024	a0001c0009t0001 a0001c0015t0002 a0001c0024t0002 a0001c0009t0001 a0001c0015t0002 a0001c0024t0002	a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0259 others(5): Show a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0259 a0001c0009t0001g0262 a0001c0009t0001g0331 a0001c0009t0001g0335 a0001c0015t0002g0260 a0001c0024t0002g0318	9	364	0.0247	-12	c.27 others(23): Show c.2789_*2800delAATGTCCCCTCA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2493		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237326244	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01346.hp2 HG01517.hp2 others(12): Show HG00642.hp2 HG01346.hp2 HG01517.hp2 HG01978.hp1 HG02129.hp2 HG02572.hp2 HG02602.hp1 HG02717.hp2 HG02735.hp1 HG03098.hp1 HG03098.hp2 HG03516.hp1 HG03688.hp1 HG04199.hp2 NA19030.hp2	a0001 a0003 a0018 others(5): Show a0001 a0003 a0018 a0020 a0026 a0027 a0030 a0071	a0001c0037 a0001c0134 a0003c0005 others(10): Show a0001c0037 a0001c0134 a0003c0005 a0003c0015 a0003c0027 a0003c0033 a0003c0075 a0018c0020 a0020c0129 a0026c0035 a0027c0023 a0030c0131 a0071c0138	a0001c0037t0001 a0001c0134t0001 a0003c0005t0001 others(10): Show a0001c0037t0001 a0001c0134t0001 a0003c0005t0001 a0003c0015t0001 a0003c0027t0001 a0003c0033t0001 a0003c0075t0001 a0018c0020t0001 a0020c0129t0001 a0026c0035t0001 a0027c0023t0001 a0030c0131t0001 a0071c0138t0001	a0001c0037t0001g0025 a0001c0134t0001g0011 a0003c0005t0001g0018 others(12): Show a0001c0037t0001g0025 a0001c0134t0001g0011 a0003c0005t0001g0018 a0003c0005t0001g0019 a0003c0015t0001g0272 a0003c0027t0001g0149 a0003c0033t0001g0174 a0003c0075t0001g0192 a0018c0020t0001g0307 a0020c0129t0001g0137 a0026c0035t0001g0189 a0027c0023t0001g0124 a0027c0023t0001g0125 a0030c0131t0001g0284 a0071c0138t0001g0166	15	322	0.0466	-12	c.932 others(29): Show c.9329-532_9329-521delACACACACACAC	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237332070	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG01192.hp1 others(8): Show HG00438.hp2 HG00639.hp2 HG01192.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp2 HG01993.hp1 NA18942.hp2 NA18986.hp1 NA19054.hp1 NA19089.hp1	a0002 a0007 a0017 others(2): Show a0002 a0007 a0017 a0042 a0060	a0002c0001 a0002c0009 a0002c0108 others(4): Show a0002c0001 a0002c0009 a0002c0108 a0007c0030 a0017c0058 a0042c0060 a0060c0054	a0002c0001t0001 a0002c0009t0001 a0002c0108t0001 others(4): Show a0002c0001t0001 a0002c0009t0001 a0002c0108t0001 a0007c0030t0001 a0017c0058t0002 a0042c0060t0001 a0060c0054t0004	a0002c0001t0001g0031 a0002c0001t0001g0085 a0002c0001t0001g0246 others(8): Show a0002c0001t0001g0031 a0002c0001t0001g0085 a0002c0001t0001g0246 a0002c0001t0001g0252 a0002c0009t0001g0079 a0002c0108t0001g0310 a0007c0030t0001g0048 a0007c0030t0001g0245 a0017c0058t0002g0057 a0042c0060t0001g0035 a0060c0054t0004g0167	11	322	0.0342	-12	c.932 others(31): Show c.9328+1368_9328+1379delATATATATATAT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01123.hp1 others(12): Show HG00738.hp2 HG00741.hp2 HG01123.hp1 HG01192.hp1 HG01496.hp1 HG01993.hp1 HG02602.hp2 HG02698.hp2 HG03017.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 NA18747.hp2 NA18939.hp2	a0002 a0031 a0066 a0002 a0031 a0066	a0002c0001 a0002c0009 a0002c0108 others(2): Show a0002c0001 a0002c0009 a0002c0108 a0031c0045 a0066c0133	a0002c0001t0001 a0002c0001t0002 a0002c0009t0002 others(4): Show a0002c0001t0001 a0002c0001t0002 a0002c0009t0002 a0002c0009t0003 a0002c0108t0001 a0031c0045t0010 a0066c0133t0001	a0002c0001t0001g0033 a0002c0001t0001g0085 a0002c0001t0001g0136 others(12): Show a0002c0001t0001g0033 a0002c0001t0001g0085 a0002c0001t0001g0136 a0002c0001t0001g0259 a0002c0001t0001g0298 a0002c0001t0001g0316 a0002c0001t0001g0319 a0002c0001t0002g0289 a0002c0001t0002g0295 a0002c0001t0002g0312 a0002c0009t0002g0223 a0002c0009t0003g0069 a0002c0108t0001g0310 a0031c0045t0010g0007 a0066c0133t0001g0015	15	322	0.0466	-12	c.766 others(29): Show c.7668+824_7668+835delTTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237391504	CTGTTTGT others(5): Show CTGTTTGTTTGTT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02809.hp1 HG02886.hp1 others(2): Show HG01978.hp1 HG02809.hp1 HG02886.hp1 HG02976.hp2 NA18906.hp2	a0003 a0013 a0025 others(1): Show a0003 a0013 a0025 a0055	a0003c0005 a0013c0097 a0025c0114 others(2): Show a0003c0005 a0013c0097 a0025c0114 a0025c0115 a0055c0116	a0003c0005t0001 a0013c0097t0002 a0025c0114t0001 others(2): Show a0003c0005t0001 a0013c0097t0002 a0025c0114t0001 a0025c0115t0004 a0055c0116t0002	a0003c0005t0001g0018 a0013c0097t0002g0107 a0025c0114t0001g0121 others(2): Show a0003c0005t0001g0018 a0013c0097t0002g0107 a0025c0114t0001g0121 a0025c0115t0004g0120 a0055c0116t0002g0177	5	322	0.0155	-12	c.709 others(29): Show c.709+3071_709+3082delAACAAACAAACA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	3/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362320	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03942.hp2 NA19056.hp2 others(1): Show HG02257.hp2 HG03942.hp2 NA19056.hp2 NA19062.hp2	a0005 a0009 a0012 others(1): Show a0005 a0009 a0012 a0047	a0005c0006 a0009c0009 a0012c0011 others(1): Show a0005c0006 a0009c0009 a0012c0011 a0047c0084	a0005c0006t0004 a0009c0009t0002 a0012c0011t0005 others(1): Show a0005c0006t0004 a0009c0009t0002 a0012c0011t0005 a0047c0084t0002	a0005c0006t0004g0071 a0009c0009t0002g0094 a0012c0011t0005g0043 others(1): Show a0005c0006t0004g0071 a0009c0009t0002g0094 a0012c0011t0005g0043 a0047c0084t0002g0271	4	292	0.0137	-12	c.-28 others(31): Show c.-28-11289_-28-11278delATATATTTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362322	ATATATTT others(5): Show ATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	292	0.0034	-12	c.-28 others(31): Show c.-28-11287_-28-11276delATATTTTTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130393074	TTTTGTGT others(5): Show TTTTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp2 HG03041.hp1 HG03453.hp2	a0030 a0030	a0030c0035 a0030c0035	a0030c0035t0001 a0030c0035t0001	a0030c0035t0001g0217 a0030c0035t0001g0218 a0030c0035t0001g0217 a0030c0035t0001g0218	2	292	0.0069	-12	c.299 others(31): Show c.2992+1322_2992+1333delTTGTGTGTGTGT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	7/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130439339	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp2 HG02965.hp2 HG03139.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0008 a0006c0005t0002g0008	2	292	0.0069	-12	c.573 others(29): Show c.5734-154_5734-143delTGTGTGTGTGTG	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	33/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130642243	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00609.hp2 others(50): Show HG00408.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02083.hp2 HG02145.hp2 HG02257.hp1 HG02615.hp2 HG03017.hp2 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04199.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp2 NA18966.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18998.hp2 NA19005.hp2 NA19058.hp1 NA19065.hp2 NA19070.hp2 NA19087.hp1	a0002 a0003 a0005 others(10): Show a0002 a0003 a0005 a0006 a0007 a0012 a0017 a0030 a0032 a0039 a0043 a0044 a0047	a0002c0002 a0002c0051 a0003c0010 others(14): Show a0002c0002 a0002c0051 a0003c0010 a0005c0059 a0006c0007 a0006c0063 a0007c0018 a0007c0081 a0007c0084 a0012c0009 a0017c0019 a0030c0043 a0032c0079 a0039c0064 a0043c0046 a0044c0052 a0047c0048	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(26): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0016 a0002c0002t0022 a0002c0051t0007 a0003c0010t0003 a0003c0010t0009 a0005c0059t0030 a0006c0007t0001 a0006c0007t0003 a0006c0007t0007 a0006c0063t0023 a0007c0018t0009 a0007c0081t0013 a0007c0084t0002 a0012c0009t0003 a0012c0009t0005 a0017c0019t0003 a0017c0019t0009 a0030c0043t0003 a0032c0079t0003 a0039c0064t0005 a0043c0046t0003 a0044c0052t0005 a0047c0048t0003	a0002c0002t0001g0013 a0002c0002t0001g0095 a0002c0002t0001g0124 others(50): Show a0002c0002t0001g0013 a0002c0002t0001g0095 a0002c0002t0001g0124 a0002c0002t0002g0041 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0084 a0002c0002t0003g0004 a0002c0002t0003g0108 a0002c0002t0003g0116 a0002c0002t0003g0134 a0002c0002t0003g0149 a0002c0002t0003g0158 a0002c0002t0003g0162 a0002c0002t0003g0171 a0002c0002t0003g0186 a0002c0002t0004g0220 a0002c0002t0005g0042 a0002c0002t0005g0070 a0002c0002t0005g0076 a0002c0002t0007g0201 a0002c0002t0016g0050 a0002c0002t0022g0165 a0002c0051t0007g0238 a0003c0010t0003g0261 a0003c0010t0009g0251 a0003c0010t0009g0252 a0003c0010t0009g0253 a0005c0059t0030g0221 a0006c0007t0001g0123 a0006c0007t0003g0260 a0006c0007t0007g0092 a0006c0007t0007g0093 a0006c0063t0023g0168 a0007c0018t0009g0257 a0007c0081t0013g0080 a0007c0084t0002g0083 a0012c0009t0003g0136 a0012c0009t0003g0147 a0012c0009t0003g0159 a0012c0009t0003g0170 a0012c0009t0005g0054 a0012c0009t0005g0063 a0012c0009t0005g0104 a0012c0009t0005g0106 a0017c0019t0003g0127 a0017c0019t0009g0258 a0030c0043t0003g0143 a0032c0079t0003g0160 a0039c0064t0005g0085 a0043c0046t0003g0024 a0044c0052t0005g0060 a0047c0048t0003g0120	53	264	0.2008	-12	c.515 others(29): Show c.5155-557_5155-546delGTGTGTGTGTGT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130680060	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0009 a0009	a0009c0005 a0009c0005	a0009c0005t0006 a0009c0005t0006	a0009c0005t0006g0073 a0009c0005t0006g0073	1	264	0.0038	-12	c.46 others(23): Show c.4664_*4675delAAAAAAAAAAAA	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding		3019		chr3	TogoVar
COL7A1_chr3_48559073_48600329	48559898	CCACACAC others(5): Show CCACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG01981.hp1 others(1): Show HG00741.hp2 HG01261.hp2 HG01981.hp1 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0018 a0002c0003 a0002c0027 a0001c0018 a0002c0003 a0002c0027	a0001c0018t0001 a0002c0003t0001 a0002c0027t0001 a0001c0018t0001 a0002c0003t0001 a0002c0027t0001	a0001c0018t0001g0078 a0002c0003t0001g0027 a0002c0003t0001g0091 others(1): Show a0001c0018t0001g0078 a0002c0003t0001g0027 a0002c0003t0001g0091 a0002c0027t0001g0099	4	236	0.0170	-12	c.44 others(23): Show c.4496_*4507delTGTGTGTGTGTG	COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding		4174		chr3	TogoVar
COL8A1_chr3_99633594_99804217	99633643	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0208 a0001c0001t0004g0208	1	262	0.0038	-12	c.-51 others(23): Show c.-5149_-5138delGTGTGTGTGTGT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding		4950		chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	TAGAGGGA others(5): Show TAGAGGGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20300.hp1 HG01891.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0037 a0001c0004t0004 a0001c0001t0037 a0001c0004t0004	a0001c0001t0037g0231 a0001c0004t0004g0254 a0001c0001t0037g0231 a0001c0004t0004g0254	2	262	0.0076	-12	c.-12 others(33): Show c.-129+30487_-129+30498delGGAGAGAGAGAG	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A2_chr1_36090239_36130222	36090679	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0218 a0003c0005t0001g0218	1	390	0.0026	-12	c.68 others(23): Show c.6878_*6889delTTTTTTTTTTTT	COL8A2	ENSG00000171812.13	transcript	ENST00000397799.2	protein_coding		4559		chr1	TogoVar
COL9A1_chr6_70211126_70308084	70273941	TAATAAAT others(5): Show TAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp2 HG03654.hp1 others(1): Show HG01884.hp1 HG03195.hp2 HG03654.hp1 HG04184.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0002 a0015c0032 a0001c0001 a0002c0002 a0015c0032	a0001c0001t0006 a0002c0002t0001 a0015c0032t0013 a0001c0001t0006 a0002c0002t0001 a0015c0032t0013	a0001c0001t0006g0342 a0002c0002t0001g0044 a0002c0002t0001g0186 others(1): Show a0001c0001t0006g0342 a0002c0002t0001g0044 a0002c0002t0001g0186 a0015c0032t0013g0341	4	362	0.0111	-12	c.106 others(28): Show c.1065+94_1065+105delTATTTATTTATT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	12/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70293631	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02602.hp2 HG03486.hp1 others(2): Show HG02155.hp2 HG02602.hp2 HG03486.hp1 NA18994.hp1 NA19003.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0004 a0003c0003 a0002c0002 a0002c0004 a0003c0003	a0002c0002t0001 a0002c0004t0002 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0004t0002 a0003c0003t0001 a0003c0003t0010	a0002c0002t0001g0288 a0002c0004t0002g0294 a0003c0003t0001g0289 others(2): Show a0002c0002t0001g0288 a0002c0004t0002g0294 a0003c0003t0001g0289 a0003c0003t0001g0293 a0003c0003t0010g0250	5	362	0.0138	-12	c.696 others(27): Show c.696+524_696+535delTGTGTGTGTGTG	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	5/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40321122	ATTATATA others(5): Show ATTATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	-12	c.-39 others(23): Show c.-3937_-3926delATATATATATAA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A3_chr20_62812050_62846159	62813651	GAAAGGAG others(5): Show GAAAGGAGTGCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0356 a0008c0019t0001g0356	1	412	0.0024	-12	c.-34 others(23): Show c.-3413_-3402delAAAGGAGTGCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding		3398		chr20	TogoVar

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