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
COL26A1_chr7_101357875_101564024	101489656	TCTTTCTT others(17): Show TCTTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0110 a0002c0003t0001g0110	1	174	0.0058	-24	c.385 others(43): Show c.385+41877_385+41900delCCTTCCTTCCTTCCTTCCTTTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101492699	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp2 HG02922.hp1 others(5): Show HG02486.hp1 HG02647.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp2 HG03486.hp1 NA19043.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0003 a0001c0001 a0001c0014 a0002c0003	a0001c0001t0002 a0001c0001t0008 a0001c0014t0009 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0014t0009 a0002c0003t0001	a0001c0001t0002g0064 a0001c0001t0002g0084 a0001c0001t0008g0115 others(5): Show a0001c0001t0002g0064 a0001c0001t0002g0084 a0001c0001t0008g0115 a0001c0014t0009g0117 a0002c0003t0001g0100 a0002c0003t0001g0112 a0002c0003t0001g0158 a0002c0003t0001g0161	8	174	0.0460	-24	c.386 others(43): Show c.386-40356_386-40333delATAAATAAATAAATAAATAAATAA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL27A1_chr9_114150537_114317511	114253336	GAGAAAGA others(17): Show GAGAAAGAAAGAAGGGAGTGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp1 HG03225.hp2 HG02559.hp2 HG03209.hp1 HG03225.hp2	a0001 a0011 a0028 a0001 a0011 a0028	a0001c0045 a0011c0112 a0028c0065 a0001c0045 a0011c0112 a0028c0065	a0001c0045t0003 a0011c0112t0006 a0028c0065t0006 a0001c0045t0003 a0011c0112t0006 a0028c0065t0006	a0001c0045t0003g0059 a0011c0112t0006g0139 a0028c0065t0006g0012 a0001c0045t0003g0059 a0011c0112t0006g0139 a0028c0065t0006g0012	3	308	0.0097	-24	c.314 others(41): Show c.3141+416_3141+439delAGGGAGTGGAGGAAGAAAGAAAGA	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	27/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL28A1_chr7_7352875_7540873	7429423	CTCTCACA others(17): Show CTCTCACATACACACACACTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG02451.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0049 a0002c0002 a0002c0049	a0002c0002t0002 a0002c0049t0003 a0002c0002t0002 a0002c0049t0003	a0002c0002t0002g0015 a0002c0049t0003g0189 a0002c0002t0002g0015 a0002c0049t0003g0189	2	196	0.0102	-24	c.199 others(43): Show c.1998+3026_1998+3049delAAGAGAGTGTGTGTGTATGTGAGA	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	25/34			chr7	TogoVar
COL28A1_chr7_7352875_7540873	7497082	AAAGGAAG others(17): Show AAAGGAAGGAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02572.hp2 others(3): Show HG01891.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02809.hp1 HG02970.hp2	a0004 a0004	a0004c0006 a0004c0039 a0004c0006 a0004c0039	a0004c0006t0002 a0004c0039t0003 a0004c0006t0002 a0004c0039t0003	a0004c0006t0002g0005 a0004c0006t0002g0006 a0004c0006t0002g0007 others(3): Show a0004c0006t0002g0005 a0004c0006t0002g0006 a0004c0006t0002g0007 a0004c0006t0002g0008 a0004c0006t0002g0184 a0004c0039t0003g0071	6	196	0.0306	-24	c.102 others(43): Show c.1027-6460_1027-6437delCCTTCCTTCCTTTCTTCCTTCCTT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	11/34			chr7	TogoVar
COL2A1_chr12_47967967_48009476	48008113	GAGAGAGA others(17): Show GAGAGAGAGAGAAAGAAAGAAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01978.hp1 HG02300.hp1 others(4): Show HG01081.hp1 HG01978.hp1 HG02300.hp1 HG02602.hp1 NA18980.hp1 NA19084.hp1 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0011 a0001c0002 a0005c0011	a0001c0002t0001 a0005c0011t0001 a0001c0002t0001 a0005c0011t0001	a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0149 others(4): Show a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0149 a0001c0002t0001g0154 a0001c0002t0001g0164 a0001c0002t0001g0167 a0005c0011t0001g0179	7	414	0.0169	-24	c.-38 others(35): Show c.-3816_-3793delTCCTTTCTTTCTTTCTCTCTCTCT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3638		chr12	TogoVar
COL2A1_chr12_47967967_48009476	48008117	GAGAGAGA others(17): Show GAGAGAGAAAGAAAGAAAGGAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0183 a0001c0043t0001g0183	1	414	0.0024	-24	c.-38 others(35): Show c.-3820_-3797delTTCTTCCTTTCTTTCTTTCTCTCT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3642		chr12	TogoVar
COL3A1_chr2_188969373_189017746	188996264	GTGTGTGT others(17): Show GTGTGTGTATATATATATATGTATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0081 a0001c0001t0008g0081	1	376	0.0027	-24	c.166 others(40): Show c.1662+90_1663-107delGTGTATATATATATATGTATATGT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	23/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	189007096	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA21309.hp1 NA19001.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0122 a0001c0001t0001g0042 a0001c0001t0001g0122	2	376	0.0053	-24	c.325 others(41): Show c.3255+127_3255+150delATATATATATATATATATATATAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	44/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A1_chr13_110143963_110312157	110170113	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(43): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG01255.hp2 HG01346.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02615.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03579.hp1 HG03710.hp2 HG03942.hp2 NA18522.hp1 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18963.hp2 NA18968.hp1 NA18971.hp1 NA18978.hp2 NA18981.hp1 NA18984.hp2 NA18999.hp1 NA19007.hp2 NA19012.hp2 NA19058.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0009	a0001c0003 a0001c0006 a0001c0007 others(21): Show a0001c0003 a0001c0006 a0001c0007 a0001c0013 a0001c0016 a0001c0036 a0001c0037 a0001c0052 a0002c0002 a0002c0004 a0002c0015 a0002c0023 a0002c0026 a0002c0028 a0002c0029 a0002c0031 a0002c0040 a0002c0082 a0002c0093 a0002c0106 a0003c0012 a0003c0080 a0008c0054 a0009c0113	a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 others(23): Show a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0013t0001 a0001c0016t0003 a0001c0036t0003 a0001c0037t0001 a0001c0052t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0002 a0002c0015t0013 a0002c0023t0003 a0002c0026t0004 a0002c0028t0003 a0002c0028t0004 a0002c0029t0003 a0002c0031t0001 a0002c0040t0002 a0002c0082t0002 a0002c0093t0003 a0002c0106t0001 a0003c0012t0001 a0003c0080t0001 a0008c0054t0001 a0009c0113t0003	a0001c0003t0001g0054 a0001c0003t0001g0092 a0001c0003t0001g0105 others(43): Show a0001c0003t0001g0054 a0001c0003t0001g0092 a0001c0003t0001g0105 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0154 a0001c0003t0001g0159 a0001c0003t0001g0161 a0001c0006t0001g0025 a0001c0006t0001g0104 a0001c0007t0001g0065 a0001c0007t0001g0070 a0001c0013t0001g0022 a0001c0016t0003g0029 a0001c0036t0003g0061 a0001c0036t0003g0135 a0001c0037t0001g0134 a0001c0052t0001g0149 a0002c0002t0002g0265 a0002c0004t0001g0214 a0002c0004t0001g0236 a0002c0004t0001g0250 a0002c0004t0002g0287 a0002c0015t0013g0312 a0002c0023t0003g0239 a0002c0026t0004g0266 a0002c0026t0004g0313 a0002c0026t0004g0342 a0002c0028t0003g0264 a0002c0028t0004g0330 a0002c0028t0004g0340 a0002c0029t0003g0215 a0002c0029t0003g0230 a0002c0029t0003g0258 a0002c0031t0001g0194 a0002c0031t0001g0254 a0002c0040t0002g0339 a0002c0082t0002g0296 a0002c0093t0003g0217 a0002c0106t0001g0242 a0003c0012t0001g0179 a0003c0012t0001g0180 a0003c0012t0001g0202 a0003c0080t0001g0208 a0008c0054t0001g0139 a0009c0113t0003g0263	46	344	0.1337	-24	c.374 others(41): Show c.3743-375_3743-352delCTTCCTTCCTTCCTTCCTTCCTTC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	42/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110219856	GTATATAT others(17): Show GTATATATGTGTGTGTATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp1 HG03209.hp1 others(1): Show HG02145.hp1 HG02647.hp1 HG03209.hp1 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0020 a0003c0009 a0003c0099 a0001c0020 a0003c0009 a0003c0099	a0001c0020t0001 a0003c0009t0001 a0003c0099t0003 a0001c0020t0001 a0003c0009t0001 a0003c0099t0003	a0001c0020t0001g0090 a0001c0020t0001g0112 a0003c0009t0001g0191 others(1): Show a0001c0020t0001g0090 a0001c0020t0001g0112 a0003c0009t0001g0191 a0003c0099t0003g0232	4	344	0.0116	-24	c.145 others(41): Show c.145-5865_145-5842delTACATATATACACACACATATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385873	GGGCCGTG others(17): Show GGGCCGTGGTTACAGCGTGTGGATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0018 a0002c0041t0018	a0002c0041t0018g0003 a0002c0041t0018g0003	1	372	0.0027	-24	c.180 others(43): Show c.180+28345_180+28368delAGGCCGTGGTTACAGCGTGTGGAT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227193747	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00738.hp1 others(39): Show HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01261.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01934.hp2 HG01943.hp1 HG02055.hp2 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02818.hp1 HG02895.hp2 HG03017.hp2 HG03209.hp1 HG03486.hp1 HG03540.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18906.hp1 NA18971.hp2 NA18990.hp1 NA19010.hp2 NA19030.hp1 NA19060.hp2 NA19240.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0014 a0017 a0024 a0029 a0030 a0031	a0001c0001 a0002c0004 a0002c0007 others(19): Show a0001c0001 a0002c0004 a0002c0007 a0003c0002 a0004c0003 a0005c0005 a0006c0010 a0006c0013 a0006c0016 a0006c0031 a0009c0008 a0010c0014 a0010c0018 a0011c0012 a0011c0021 a0012c0022 a0014c0023 a0017c0019 a0024c0045 a0029c0035 a0030c0036 a0031c0038	a0001c0001t0001 a0001c0001t0002 a0002c0004t0006 others(24): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0006 a0002c0004t0008 a0002c0007t0001 a0002c0007t0010 a0003c0002t0004 a0004c0003t0004 a0005c0005t0001 a0005c0005t0002 a0005c0005t0007 a0006c0010t0006 a0006c0013t0009 a0006c0016t0006 a0006c0031t0006 a0009c0008t0001 a0010c0014t0002 a0010c0018t0002 a0011c0012t0001 a0011c0021t0003 a0012c0022t0001 a0014c0023t0002 a0017c0019t0019 a0024c0045t0002 a0029c0035t0004 a0030c0036t0011 a0031c0038t0003	a0001c0001t0001g0117 a0001c0001t0001g0279 a0001c0001t0002g0082 others(39): Show a0001c0001t0001g0117 a0001c0001t0001g0279 a0001c0001t0002g0082 a0002c0004t0006g0234 a0002c0004t0008g0330 a0002c0007t0001g0060 a0002c0007t0001g0068 a0002c0007t0001g0115 a0002c0007t0010g0336 a0003c0002t0004g0281 a0004c0003t0004g0254 a0004c0003t0004g0255 a0004c0003t0004g0293 a0005c0005t0001g0176 a0005c0005t0001g0177 a0005c0005t0001g0243 a0005c0005t0002g0083 a0005c0005t0007g0114 a0005c0005t0007g0157 a0005c0005t0007g0162 a0005c0005t0007g0215 a0005c0005t0007g0249 a0005c0005t0007g0280 a0005c0005t0007g0298 a0006c0010t0006g0113 a0006c0013t0009g0216 a0006c0013t0009g0226 a0006c0016t0006g0267 a0006c0031t0006g0081 a0009c0008t0001g0265 a0009c0008t0001g0277 a0010c0014t0002g0324 a0010c0018t0002g0108 a0011c0012t0001g0321 a0011c0021t0003g0320 a0012c0022t0001g0004 a0014c0023t0002g0080 a0017c0019t0019g0178 a0024c0045t0002g0076 a0029c0035t0004g0308 a0030c0036t0011g0044 a0031c0038t0003g0103	42	344	0.1221	-24	c.87+ others(41): Show c.87+28965_87+28988delAAGGAAGGAAGGAAGGAAGGAAGG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041720	GAGGAAGG others(17): Show GAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp2 NA18999.hp1 HG02976.hp2 HG03139.hp2 NA18999.hp1	a0001 a0002 a0044 a0001 a0002 a0044	a0001c0001 a0002c0002 a0044c0033 a0001c0001 a0002c0002 a0044c0033	a0001c0001t0001 a0002c0002t0002 a0044c0033t0032 a0001c0001t0001 a0002c0002t0002 a0044c0033t0032	a0001c0001t0001g0034 a0002c0002t0002g0264 a0044c0033t0032g0168 a0001c0001t0001g0034 a0002c0002t0002g0264 a0044c0033t0032g0168	3	284	0.0106	-24	c.350 others(41): Show c.3505+404_3505+427delTCCTTCCTTCCTTCCTTCCTTCCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041771	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01358.hp2 HG03017.hp2 others(4): Show HG00323.hp2 HG01358.hp2 HG03017.hp2 HG03710.hp2 NA19006.hp2 NA19084.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0060 a0002c0002 a0002c0060	a0002c0002t0002 a0002c0060t0002 a0002c0002t0002 a0002c0060t0002	a0002c0002t0002g0074 a0002c0002t0002g0077 a0002c0002t0002g0078 others(4): Show a0002c0002t0002g0074 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0239 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0060t0002g0252	7	284	0.0247	-24	c.350 others(41): Show c.3505+353_3505+376delTTTCTTTCCCTTCCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041775	GAAGGAAG others(17): Show GAAGGAAGGAAGGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19079.hp2 HG01934.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0098 a0002c0002t0002g0110 a0002c0002t0002g0098 a0002c0002t0002g0110	2	284	0.0070	-24	c.350 others(41): Show c.3505+349_3505+372delTTTCTTTCTTTCCCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041779	GAAGGAAG others(17): Show GAAGGAAGGGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0092 a0002c0002t0002g0092	1	284	0.0035	-24	c.350 others(41): Show c.3505+345_3505+368delTTTCTTTCTTTCTTTCCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041783	GAAGGGAA others(17): Show GAAGGGAAAGAAAGAAAGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0113 a0002c0002t0002g0113	1	284	0.0035	-24	c.350 others(41): Show c.3505+341_3505+364delTTCCTTTCTTTCTTTCTTTCCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108526589	CTCCCTCC others(17): Show CTCCCTCCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02257.hp2 HG03453.hp1 others(4): Show HG02155.hp2 HG02257.hp2 HG03453.hp1 HG03516.hp2 NA18981.hp2 NA19056.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0008 others(4): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0029 a0002c0002t0001g0030	7	269	0.0260	-24	c.82- others(41): Show c.82-13155_82-13132delCCCTCCTTTCTTTCTTTCTTTCTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526595	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	269	0.0037	-24	c.82- others(41): Show c.82-13107_82-13084delTCTTTCTTTCTTTCTTTCTTTCTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A6_chrX_108150614_108443422	108231077	CTACATAC others(17): Show CTACATACATACATACATACATACA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0002 a0007c0026t0002	a0007c0026t0002g0192 a0007c0026t0002g0192	1	234	0.0043	-24	c.145 others(41): Show c.145-9727_145-9704delTGTATGTATGTATGTATGTATGTA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108238034	ATATCTAT others(17): Show ATATCTATCTATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	234	0.0043	-24	c.145 others(43): Show c.145-16684_145-16661delGATAGATAGATAGATAGATAGATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL5A1_chr9_134636803_134849843	134790301	CCCATCCA others(17): Show CCCATCCATCCATCCACCCACCCAT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0049 a0001c0003t0049	a0001c0003t0049g0158 a0001c0003t0049g0158	1	272	0.0037	-24	c.270 others(43): Show c.2700+1117_2700+1140delTCCATCCATCCATCCACCCACCCA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	32/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134848780	TGATCACA others(17): Show TGATCACACCTCCCAGGAAGCACAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01943.hp2 HG02602.hp2 others(2): Show HG00280.hp1 HG01943.hp2 HG02602.hp2 HG03017.hp1 HG03688.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0003c0059 others(1): Show a0001c0001 a0001c0002 a0003c0059 a0007c0066	a0001c0001t0001 a0001c0002t0001 a0003c0059t0040 others(1): Show a0001c0001t0001 a0001c0002t0001 a0003c0059t0040 a0007c0066t0001	a0001c0001t0001g0012 a0001c0002t0001g0018 a0001c0002t0001g0254 others(2): Show a0001c0001t0001g0012 a0001c0002t0001g0018 a0001c0002t0001g0254 a0003c0059t0040g0192 a0007c0066t0001g0235	5	272	0.0184	-24	c.64 others(35): Show c.6478_*6501delGATCACACCTCCCAGGAAGCACAG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		3938		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134848946	CGGGATCA others(17): Show CGGGATCACACCTCCCAGGGAGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG02004.hp2 others(8): Show HG01109.hp1 HG01255.hp1 HG02004.hp2 HG02273.hp2 HG02572.hp1 HG03195.hp1 HG03516.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0027 a0006c0034 a0006c0040	a0001c0001t0002 a0001c0001t0009 a0001c0002t0005 others(6): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0005 a0001c0003t0032 a0001c0004t0002 a0001c0006t0047 a0001c0027t0002 a0006c0034t0009 a0006c0040t0009	a0001c0001t0002g0079 a0001c0001t0002g0116 a0001c0001t0002g0220 others(8): Show a0001c0001t0002g0079 a0001c0001t0002g0116 a0001c0001t0002g0220 a0001c0001t0009g0233 a0001c0002t0005g0065 a0001c0003t0032g0004 a0001c0004t0002g0052 a0001c0006t0047g0019 a0001c0027t0002g0090 a0006c0034t0009g0193 a0006c0040t0009g0189	11	272	0.0404	-24	c.66 others(35): Show c.6644_*6667delGGGATCACACCTCCCAGGGAGCAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4104		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849045	GATCACAC others(17): Show GATCACACCTCCCAGGAACCACGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 NA19030.hp2 HG02451.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0007 a0001c0001t0007 a0001c0003t0007	a0001c0001t0007g0248 a0001c0003t0007g0003 a0001c0001t0007g0248 a0001c0003t0007g0003	2	272	0.0074	-24	c.67 others(35): Show c.6743_*6766delATCACACCTCCCAGGAACCACGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4203		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849285	GATCACAC others(17): Show GATCACACCTCCCAGGAACCACAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0051 a0001c0012t0051	a0001c0012t0051g0086 a0001c0012t0051g0086	1	272	0.0037	-24	c.69 others(35): Show c.6983_*7006delATCACACCTCCCAGGAACCACAAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4443		chr9	TogoVar
COL5A3_chr19_9954561_10015504	9977942	CTATACAT others(17): Show CTATACATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00597.hp1 others(49): Show HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01255.hp2 HG01256.hp1 HG01515.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02080.hp1 HG02135.hp1 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp1 HG02602.hp2 HG02647.hp2 HG03041.hp2 HG03239.hp2 HG03490.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG06807.hp2 NA18747.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18966.hp1 NA18975.hp2 NA18978.hp1 NA18990.hp1 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19009.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19065.hp1 NA19080.hp2 NA19084.hp1 NA19091.hp1 NA20805.hp2	a0003 a0011 a0012 others(7): Show a0003 a0011 a0012 a0018 a0023 a0029 a0036 a0049 a0065 a0072	a0003c0009 a0003c0011 a0003c0125 others(13): Show a0003c0009 a0003c0011 a0003c0125 a0003c0136 a0011c0006 a0012c0017 a0012c0025 a0012c0077 a0018c0018 a0023c0027 a0029c0124 a0036c0073 a0036c0102 a0049c0079 a0065c0103 a0072c0093	a0003c0009t0003 a0003c0011t0003 a0003c0011t0006 others(24): Show a0003c0009t0003 a0003c0011t0003 a0003c0011t0006 a0003c0011t0009 a0003c0125t0003 a0003c0136t0009 a0011c0006t0003 a0011c0006t0006 a0011c0006t0009 a0011c0006t0016 a0011c0006t0018 a0012c0017t0001 a0012c0017t0002 a0012c0025t0001 a0012c0025t0002 a0012c0025t0003 a0012c0077t0001 a0018c0018t0003 a0018c0018t0006 a0018c0018t0009 a0023c0027t0002 a0029c0124t0001 a0036c0073t0006 a0036c0102t0003 a0049c0079t0003 a0065c0103t0003 a0072c0093t0001	a0003c0009t0003g0077 a0003c0009t0003g0307 a0003c0009t0003g0323 others(49): Show a0003c0009t0003g0077 a0003c0009t0003g0307 a0003c0009t0003g0323 a0003c0009t0003g0327 a0003c0009t0003g0348 a0003c0009t0003g0349 a0003c0009t0003g0357 a0003c0009t0003g0385 a0003c0009t0003g0395 a0003c0011t0003g0057 a0003c0011t0003g0138 a0003c0011t0003g0142 a0003c0011t0006g0212 a0003c0011t0006g0214 a0003c0011t0009g0280 a0003c0011t0009g0281 a0003c0125t0003g0369 a0003c0136t0009g0066 a0011c0006t0003g0132 a0011c0006t0003g0174 a0011c0006t0003g0175 a0011c0006t0003g0186 a0011c0006t0003g0188 a0011c0006t0006g0189 a0011c0006t0006g0194 a0011c0006t0009g0130 a0011c0006t0016g0171 a0011c0006t0018g0056 a0012c0017t0001g0120 a0012c0017t0001g0141 a0012c0017t0001g0143 a0012c0017t0001g0144 a0012c0017t0002g0270 a0012c0025t0001g0151 a0012c0025t0001g0347 a0012c0025t0002g0317 a0012c0025t0003g0394 a0012c0077t0001g0113 a0018c0018t0003g0010 a0018c0018t0003g0011 a0018c0018t0006g0009 a0018c0018t0009g0019 a0018c0018t0009g0020 a0023c0027t0002g0178 a0023c0027t0002g0198 a0023c0027t0002g0199 a0029c0124t0001g0217 a0036c0073t0006g0164 a0036c0102t0003g0226 a0049c0079t0003g0338 a0065c0103t0003g0224 a0072c0093t0001g0282	52	412	0.1262	-24	c.301 others(41): Show c.3019-265_3019-242delTATATATATATATATATATGTATA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	41/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983529	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01361.hp2 HG00140.hp2 HG01074.hp2 HG01361.hp2	a0008 a0008	a0008c0004 a0008c0092 a0008c0004 a0008c0092	a0008c0004t0001 a0008c0092t0002 a0008c0004t0001 a0008c0092t0002	a0008c0004t0001g0023 a0008c0004t0001g0024 a0008c0092t0002g0021 a0008c0004t0001g0023 a0008c0004t0001g0024 a0008c0092t0002g0021	3	412	0.0073	-24	c.240 others(43): Show c.2407-1435_2407-1412delTCTTTCTTTCTTTCTTTCTTTCTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983582	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03704.hp1 HG04115.hp1 others(1): Show HG00423.hp1 HG03704.hp1 HG04115.hp1 NA18948.hp2	a0004 a0061 a0075 a0004 a0061 a0075	a0004c0010 a0004c0013 a0061c0109 others(1): Show a0004c0010 a0004c0013 a0061c0109 a0075c0091	a0004c0010t0023 a0004c0013t0004 a0061c0109t0004 others(1): Show a0004c0010t0023 a0004c0013t0004 a0061c0109t0004 a0075c0091t0004	a0004c0010t0023g0034 a0004c0013t0004g0308 a0061c0109t0004g0081 others(1): Show a0004c0010t0023g0034 a0004c0013t0004g0308 a0061c0109t0004g0081 a0075c0091t0004g0014	4	412	0.0097	-24	c.240 others(43): Show c.2407-1488_2407-1465delCTTTCTCTTTCTTTCTTTCTTTCT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9994559	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0218 a0002c0002t0002g0218	1	412	0.0024	-24	c.158 others(41): Show c.1588-777_1588-754delATATATATATATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	16/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	10007107	ACTCTCCC others(17): Show ACTCTCCCCTATGACCTCCTCCCTC	A A	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0070 a0002c0020t0001g0070	1	412	0.0024	-24	c.89- others(37): Show c.89-900_89-877delGAGGGAGGAGGTCATAGGGGAGAG	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	1/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45987810	CGGCGGGA others(17): Show CGGCGGGAGTCCAGATGGAGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0039 a0002c0002t0010g0039	1	128	0.0078	-24	c.804 others(39): Show c.804+163_804+186delAGTCCAGATGGAGGGGATGGCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988351	GGAGTCCA others(17): Show GGAGTCCAGATGGAGGGGACGGCGT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0007 a0007	a0007c0036 a0007c0036	a0007c0036t0005 a0007c0036t0005	a0007c0036t0005g0083 a0007c0036t0005g0083	1	128	0.0078	-24	c.804 others(39): Show c.804+699_805-708delAGTCCAGATGGAGGGGACGGCGTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46123767	GATGGATG others(17): Show GATGGATGGGTGAGTGGGTGTATGT	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	372	0.0027	-24	c.167 others(41): Show c.1671+841_1672-850delGAGTGGGTGTATGTATGGATGGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46123778	GAGTGGGT others(17): Show GAGTGGGTGTATGTATGGATGGGTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03453.hp1 HG01891.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0237 a0001c0006t0005g0238 a0001c0006t0005g0237 a0001c0006t0005g0238	2	372	0.0054	-24	c.167 others(41): Show c.1671+850_1672-841delTATGTATGGATGGGTTAGTGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46123959	AGATGGGT others(17): Show AGATGGGTATGTGAGTGAGTGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02257.hp2 HG02559.hp2 others(3): Show HG01261.hp2 HG02257.hp2 HG02559.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0006 a0002c0003t0006 a0001c0006t0006 a0002c0003t0006	a0001c0006t0006g0239 a0001c0006t0006g0248 a0001c0006t0006g0249 others(3): Show a0001c0006t0006g0239 a0001c0006t0006g0248 a0001c0006t0006g0249 a0001c0006t0006g0250 a0002c0003t0006g0065 a0002c0003t0006g0067	6	372	0.0161	-24	c.167 others(41): Show c.1672-683_1672-660delTGTGAGTGAGTGGGGGGATGGGTA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46123767	GATGGATG others(17): Show GATGGATGGGTGAGTGGGTGTATGT	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0165 a0001c0006t0001g0165	1	364	0.0028	-24	c.167 others(41): Show c.1671+841_1672-850delGAGTGGGTGTATGTATGGATGGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46123778	GAGTGGGT others(17): Show GAGTGGGTGTATGTATGGATGGGTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03453.hp1 HG01891.hp1 HG03453.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0005 a0001c0026t0005	a0001c0026t0005g0233 a0001c0026t0005g0234 a0001c0026t0005g0233 a0001c0026t0005g0234	2	364	0.0055	-24	c.167 others(41): Show c.1671+850_1672-841delTATGTATGGATGGGTTAGTGGGTG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46123959	AGATGGGT others(17): Show AGATGGGTATGTGAGTGAGTGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02257.hp2 HG02559.hp2 others(2): Show HG01261.hp2 HG02257.hp2 HG02559.hp2 HG02897.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0025 a0002c0013 a0001c0007 a0001c0025 a0002c0013	a0001c0007t0003 a0001c0025t0001 a0002c0013t0003 a0001c0007t0003 a0001c0025t0001 a0002c0013t0003	a0001c0007t0003g0246 a0001c0007t0003g0247 a0001c0025t0001g0235 others(2): Show a0001c0007t0003g0246 a0001c0007t0003g0247 a0001c0025t0001g0235 a0002c0013t0003g0067 a0002c0013t0003g0069	5	364	0.0137	-24	c.167 others(41): Show c.1672-683_1672-660delTGTGAGTGAGTGGGGGGATGGGTA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18970.hp2 NA19000.hp1 others(1): Show HG02071.hp1 NA18970.hp2 NA19000.hp1 NA19005.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0045 a0002c0001t0001g0193 a0002c0001t0001g0244 others(1): Show a0002c0001t0001g0045 a0002c0001t0001g0193 a0002c0001t0001g0244 a0002c0001t0002g0248	4	322	0.0124	-24	c.766 others(41): Show c.7668+812_7668+835delTTTTTTTTTTTTTTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362304	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp2 HG01258.hp1 others(1): Show HG01175.hp1 HG01256.hp2 HG01258.hp1 HG03225.hp1	a0003 a0034 a0035 a0003 a0034 a0035	a0003c0004 a0034c0027 a0035c0028 a0003c0004 a0034c0027 a0035c0028	a0003c0004t0011 a0034c0027t0001 a0035c0028t0001 a0003c0004t0011 a0034c0027t0001 a0035c0028t0001	a0003c0004t0011g0073 a0034c0027t0001g0006 a0035c0028t0001g0104 a0003c0004t0011g0073 a0034c0027t0001g0006 a0035c0028t0001g0104	4	292	0.0137	-24	c.-28 others(43): Show c.-28-11305_-28-11282delATATATATATATATATATATATTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362306	ATATATAT others(17): Show ATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02896.hp1 others(4): Show HG02615.hp1 HG02717.hp1 HG02896.hp1 HG03098.hp1 HG03486.hp2 HG03516.hp1 NA19081.hp1	a0002 a0003 a0018 others(3): Show a0002 a0003 a0018 a0024 a0068 a0075	a0002c0002 a0003c0004 a0018c0018 others(3): Show a0002c0002 a0003c0004 a0018c0018 a0024c0022 a0068c0059 a0075c0067	a0002c0002t0001 a0003c0004t0001 a0018c0018t0001 others(3): Show a0002c0002t0001 a0003c0004t0001 a0018c0018t0001 a0024c0022t0001 a0068c0059t0001 a0075c0067t0001	a0002c0002t0001g0172 a0003c0004t0001g0155 a0018c0018t0001g0158 others(4): Show a0002c0002t0001g0172 a0003c0004t0001g0155 a0018c0018t0001g0158 a0024c0022t0001g0156 a0024c0022t0001g0157 a0068c0059t0001g0210 a0075c0067t0001g0159	7	292	0.0240	-24	c.-28 others(43): Show c.-28-11303_-28-11280delATATATATATATATATATATTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362308	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0001 a0014c0013t0001	a0014c0013t0001g0115 a0014c0013t0001g0115	1	292	0.0034	-24	c.-28 others(43): Show c.-28-11301_-28-11278delATATATATATATATATATTTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362310	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp1 HG02922.hp2 others(1): Show HG02280.hp2 HG02647.hp1 HG02922.hp2 HG03195.hp2	a0019 a0037 a0071 others(1): Show a0019 a0037 a0071 a0072	a0019c0017 a0037c0032 a0071c0071 others(1): Show a0019c0017 a0037c0032 a0071c0071 a0072c0072	a0019c0017t0003 a0037c0032t0001 a0071c0071t0001 others(1): Show a0019c0017t0003 a0037c0032t0001 a0071c0071t0001 a0072c0072t0001	a0019c0017t0003g0277 a0037c0032t0001g0181 a0071c0071t0001g0180 others(1): Show a0019c0017t0003g0277 a0037c0032t0001g0181 a0071c0071t0001g0180 a0072c0072t0001g0182	4	292	0.0137	-24	c.-28 others(43): Show c.-28-11299_-28-11276delATATATATATATATATTTTTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130531037	CAGACACA others(17): Show CAGACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0009 a0007c0018t0009	a0007c0018t0009g0257 a0007c0018t0009g0257	1	264	0.0038	-24	c.-32 others(43): Show c.-32+13641_-32+13664delAGACACACACACACACACACACAG	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36			chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590289	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0007 a0007	a0007c0083 a0007c0083	a0007c0083t0005 a0007c0083t0005	a0007c0083t0005g0048 a0007c0083t0005g0048	1	264	0.0038	-24	c.421 others(41): Show c.4219-750_4219-727delATATATATATTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130678840	AGATTATT others(17): Show AGATTATTCCTCTGCTTAATGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0191 a0006c0007t0001g0191	1	264	0.0038	-24	c.34 others(35): Show c.3444_*3467delGATTATTCCTCTGCTTAATGGAGG	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding		1799		chr3	TogoVar
COL7A1_chr3_48559073_48600329	48559898	CCACACAC others(17): Show CCACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp2 HG03139.hp1 HG02074.hp1 HG02074.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0048	3	236	0.0127	-24	c.44 others(35): Show c.4484_*4507delTGTGTGTGTGTGTGTGTGTGTGTG	COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding		4174		chr3	TogoVar
COL9A2_chr1_40295489_40322286	40321101	CTAAAAAA others(17): Show CTAAAAAAAAAAAAAAAAAAAATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	438	0.0023	-24	c.-39 others(35): Show c.-3928_-3905delTAATTTTTTTTTTTTTTTTTTTTA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3816		chr1	TogoVar

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