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
COL2A1_chr12_47967967_48009476	48008115	GAGAGAGA others(7): Show GAGAGAGAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01255.hp2 HG01346.hp1 others(8): Show HG01106.hp1 HG01255.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG01978.hp2 HG02622.hp1 HG03239.hp1 HG03688.hp1 HG04115.hp1 HG04228.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0040 a0004c0007	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0040t0001 a0004c0007t0001	a0001c0002t0001g0148 a0001c0003t0001g0134 a0001c0003t0001g0135 others(7): Show a0001c0002t0001g0148 a0001c0003t0001g0134 a0001c0003t0001g0135 a0001c0003t0001g0235 a0001c0003t0001g0240 a0001c0003t0001g0249 a0001c0004t0001g0052 a0001c0004t0001g0257 a0001c0040t0001g0247 a0004c0007t0001g0248	11	414	0.0266	-14	c.-38 others(25): Show c.-3808_-3795delTTCTTTCTCTCTCT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3640		chr12	TogoVar
COL3A1_chr2_188969373_189017746	188996282	ATGTATAT others(7): Show ATGTATATGTATATC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	376	0.0027	-14	c.166 others(31): Show c.1662+106_1663-101delGTATATGTATATCT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	23/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	189007096	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02280.hp1 others(6): Show HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02896.hp2 HG02922.hp1 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0003 a0001c0001t0003 a0001c0006t0003	a0001c0001t0003g0092 a0001c0006t0003g0004 a0001c0006t0003g0011 others(3): Show a0001c0001t0003g0092 a0001c0006t0003g0004 a0001c0006t0003g0011 a0001c0006t0003g0088 a0001c0006t0003g0090 a0001c0006t0003g0115	9	376	0.0239	-14	c.325 others(31): Show c.3255+137_3255+150delATATATATATATAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	44/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	189013488	AATATATA others(7): Show AATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02145.hp2 others(26): Show HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0006 a0013c0017 a0001c0001 a0001c0006 a0013c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0006t0003 a0013c0017t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 others(23): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0003g0089 a0001c0001t0003g0092 a0001c0001t0003g0114 a0001c0001t0003g0216 a0001c0001t0003g0311 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0010g0111 a0001c0006t0003g0004 a0001c0006t0003g0011 a0001c0006t0003g0088 a0001c0006t0003g0090 a0001c0006t0003g0091 a0001c0006t0003g0115 a0013c0017t0001g0102	29	376	0.0771	-14	c.17 others(25): Show c.1715_*1728delATATATATATATAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		743		chr2	TogoVar
COL4A1_chr13_110143963_110312157	110176010	TTAAGGCT others(7): Show TTAAGGCTAGTCCGG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03540.hp1 HG02922.hp2 HG03540.hp1	a0002 a0002	a0002c0109 a0002c0110 a0002c0109 a0002c0110	a0002c0109t0002 a0002c0110t0003 a0002c0109t0002 a0002c0110t0003	a0002c0109t0002g0267 a0002c0110t0003g0257 a0002c0109t0002g0267 a0002c0110t0003g0257	2	344	0.0058	-14	c.305 others(31): Show c.3058+400_3058+413delCCGGACTAGCCTTA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	36/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110222771	TTAAAAAA others(7): Show TTAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(63): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp2 HG01109.hp1 HG01255.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02293.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02735.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03710.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18941.hp2 NA18944.hp2 NA18948.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18974.hp1 NA18982.hp1 NA18993.hp1 NA18998.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19240.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0006 others(34): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0019 a0001c0033 a0001c0036 a0001c0051 a0001c0062 a0001c0064 a0002c0002 a0002c0004 a0002c0011 a0002c0015 a0002c0018 a0002c0024 a0002c0026 a0002c0028 a0002c0030 a0002c0031 a0002c0039 a0002c0040 a0002c0082 a0002c0092 a0002c0102 a0003c0008 a0003c0014 a0003c0027 a0003c0046 a0003c0049 a0004c0005 a0004c0017 a0004c0021 a0004c0025 a0004c0035 a0004c0077 a0005c0034	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(40): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0005 a0001c0019t0001 a0001c0033t0001 a0001c0036t0003 a0001c0051t0001 a0001c0062t0001 a0001c0064t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0002c0004t0001 a0002c0011t0002 a0002c0011t0014 a0002c0015t0001 a0002c0015t0013 a0002c0018t0001 a0002c0024t0002 a0002c0026t0004 a0002c0028t0004 a0002c0030t0008 a0002c0031t0002 a0002c0039t0002 a0002c0040t0002 a0002c0082t0002 a0002c0092t0002 a0002c0102t0001 a0003c0008t0001 a0003c0008t0002 a0003c0014t0002 a0003c0027t0001 a0003c0046t0001 a0003c0049t0001 a0004c0005t0001 a0004c0017t0001 a0004c0021t0001 a0004c0025t0001 a0004c0035t0001 a0004c0077t0001 a0005c0034t0001	a0001c0001t0001g0037 a0001c0001t0001g0142 a0001c0003t0001g0014 others(63): Show a0001c0001t0001g0037 a0001c0001t0001g0142 a0001c0003t0001g0014 a0001c0003t0001g0085 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0158 a0001c0003t0001g0162 a0001c0006t0001g0087 a0001c0007t0001g0124 a0001c0007t0001g0153 a0001c0007t0005g0152 a0001c0019t0001g0027 a0001c0033t0001g0098 a0001c0033t0001g0099 a0001c0036t0003g0061 a0001c0051t0001g0114 a0001c0062t0001g0017 a0001c0064t0001g0024 a0002c0002t0001g0220 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0002g0295 a0002c0002t0002g0299 a0002c0002t0012g0293 a0002c0004t0001g0182 a0002c0004t0001g0193 a0002c0004t0001g0207 a0002c0004t0001g0256 a0002c0004t0001g0260 a0002c0011t0002g0277 a0002c0011t0014g0335 a0002c0015t0001g0231 a0002c0015t0013g0312 a0002c0018t0001g0197 a0002c0024t0002g0282 a0002c0026t0004g0313 a0002c0028t0004g0330 a0002c0030t0008g0189 a0002c0031t0002g0308 a0002c0039t0002g0302 a0002c0040t0002g0274 a0002c0082t0002g0296 a0002c0092t0002g0341 a0002c0102t0001g0172 a0003c0008t0001g0170 a0003c0008t0001g0210 a0003c0008t0001g0211 a0003c0008t0002g0285 a0003c0008t0002g0286 a0003c0008t0002g0315 a0003c0008t0002g0333 a0003c0014t0002g0298 a0003c0027t0001g0261 a0003c0046t0001g0222 a0003c0049t0001g0243 a0004c0005t0001g0075 a0004c0005t0001g0115 a0004c0005t0001g0164 a0004c0017t0001g0043 a0004c0017t0001g0093 a0004c0021t0001g0063 a0004c0025t0001g0132 a0004c0035t0001g0067 a0004c0077t0001g0015 a0005c0034t0001g0165	66	344	0.1919	-14	c.145 others(31): Show c.145-8770_145-8757delTTTTTTTTTTTTTA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110442087	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0021 a0021	a0021c0053 a0021c0053	a0021c0053t0007 a0021c0053t0007	a0021c0053t0007g0241 a0021c0053t0007g0241	1	372	0.0027	-14	c.957 others(31): Show c.957+2269_957+2282delAAAAAAAAAAAAAA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	16/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509260	TATATATA others(7): Show TATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG03195.hp2 others(1): Show HG02630.hp1 HG02723.hp1 HG03195.hp2 NA19240.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0045 a0002c0097 a0002c0107 others(1): Show a0001c0045 a0002c0097 a0002c0107 a0007c0060	a0001c0045t0027 a0002c0097t0015 a0002c0107t0033 others(1): Show a0001c0045t0027 a0002c0097t0015 a0002c0107t0033 a0007c0060t0015	a0001c0045t0027g0205 a0002c0097t0015g0260 a0002c0107t0033g0174 others(1): Show a0001c0045t0027g0205 a0002c0097t0015g0260 a0002c0107t0033g0174 a0007c0060t0015g0264	4	372	0.0108	-14	c.488 others(33): Show c.4881+1041_4881+1054delTATATATATACACA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227208765	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG03209.hp2 others(1): Show HG02559.hp2 HG02922.hp2 HG03209.hp2 NA20129.hp1	a0002 a0002	a0002c0007 a0002c0026 a0002c0007 a0002c0026	a0002c0007t0003 a0002c0007t0010 a0002c0026t0014 a0002c0007t0003 a0002c0007t0010 a0002c0026t0014	a0002c0007t0003g0092 a0002c0007t0010g0052 a0002c0026t0014g0071 others(1): Show a0002c0007t0003g0092 a0002c0007t0010g0052 a0002c0026t0014g0071 a0002c0026t0014g0146	4	344	0.0116	-14	c.88- others(31): Show c.88-29175_88-29162delCACACACACACACA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227208793	CACACACA others(7): Show CACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19060.hp2 NA18977.hp1 NA19060.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0002 a0010c0014t0002	a0010c0014t0002g0086 a0010c0014t0002g0324 a0010c0014t0002g0086 a0010c0014t0002g0324	2	344	0.0058	-14	c.88- others(31): Show c.88-29173_88-29160delCACACACACACATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227240618	ACATTCCA others(7): Show ACATTCCAACTTTTC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 NA19030.hp1 others(1): Show HG02145.hp1 HG02486.hp1 NA19030.hp1 NA19043.hp2	a0005 a0006 a0005 a0006	a0005c0029 a0006c0016 a0005c0029 a0006c0016	a0005c0029t0015 a0006c0016t0001 a0006c0016t0006 others(1): Show a0005c0029t0015 a0006c0016t0001 a0006c0016t0006 a0006c0016t0018	a0005c0029t0015g0295 a0006c0016t0001g0225 a0006c0016t0006g0267 others(1): Show a0005c0029t0015g0295 a0006c0016t0001g0225 a0006c0016t0006g0267 a0006c0016t0018g0036	4	344	0.0116	-14	c.234 others(29): Show c.234+387_234+400delCATTCCAACTTTTC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	3/51			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041812	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0184 a0002c0002t0007g0184	1	284	0.0035	-14	c.350 others(31): Show c.3505+322_3505+335delTTCTTTCTTTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041820	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA19083.hp1 HG02004.hp1 NA19083.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0002 a0002c0002t0002 a0004c0004t0002	a0002c0002t0002g0009 a0004c0004t0002g0075 a0002c0002t0002g0009 a0004c0004t0002g0075	2	284	0.0070	-14	c.350 others(31): Show c.3505+314_3505+327delTTCTTTCTTTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045787	TATATATA others(7): Show TATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01071.hp1 HG01192.hp1 others(21): Show HG00099.hp2 HG01071.hp1 HG01192.hp1 HG01255.hp1 HG02280.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp2 HG06807.hp1 NA20752.hp1	a0001 a0010 a0015 others(3): Show a0001 a0010 a0015 a0022 a0025 a0044	a0001c0001 a0010c0017 a0010c0032 others(4): Show a0001c0001 a0010c0017 a0010c0032 a0015c0042 a0022c0015 a0025c0044 a0044c0033	a0001c0001t0001 a0001c0001t0017 a0001c0001t0022 others(6): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0022 a0010c0017t0008 a0010c0032t0008 a0015c0042t0013 a0022c0015t0004 a0025c0044t0001 a0044c0033t0032	a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0050 others(21): Show a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0180 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0229 a0001c0001t0001g0258 a0001c0001t0001g0282 a0001c0001t0017g0002 a0001c0001t0022g0119 a0010c0017t0008g0179 a0010c0017t0008g0183 a0010c0032t0008g0167 a0015c0042t0013g0041 a0022c0015t0004g0145 a0022c0015t0004g0146 a0025c0044t0001g0060 a0044c0033t0032g0168	24	284	0.0845	-14	c.328 others(33): Show c.3289+1674_3289+1687delGTGTATATATATAT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045915	GTATATGT others(7): Show GTATATGTATATGTA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03471.hp2 HG03195.hp1 HG03471.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0008 a0010c0017t0008	a0010c0017t0008g0179 a0010c0017t0008g0183 a0010c0017t0008g0179 a0010c0017t0008g0183	2	284	0.0070	-14	c.328 others(33): Show c.3289+1546_3289+1559delTACATATACATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227091918	GAAAGAAA others(7): Show GAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02257.hp2 HG02486.hp2 others(6): Show HG01106.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02886.hp1 HG02970.hp1 NA18522.hp1 NA18962.hp1 NA19066.hp1	a0007 a0017 a0038 others(1): Show a0007 a0017 a0038 a0039	a0007c0006 a0007c0031 a0017c0022 others(2): Show a0007c0006 a0007c0031 a0017c0022 a0038c0038 a0039c0067	a0007c0006t0004 a0007c0031t0004 a0017c0022t0003 others(2): Show a0007c0006t0004 a0007c0031t0004 a0017c0022t0003 a0038c0038t0005 a0039c0067t0028	a0007c0006t0004g0171 a0007c0006t0004g0172 a0007c0006t0004g0173 others(6): Show a0007c0006t0004g0171 a0007c0006t0004g0172 a0007c0006t0004g0173 a0007c0006t0004g0181 a0007c0031t0004g0170 a0017c0022t0003g0254 a0017c0022t0003g0255 a0038c0038t0005g0024 a0039c0067t0028g0235	9	284	0.0317	-14	c.137 others(33): Show c.1370-1975_1370-1962delTCTTTTCTTTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	20/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108526657	TTTCTTCT others(7): Show TTTCTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 NA18522.hp1 HG01243.hp1 HG02486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0064 a0001c0001t0001g0202 a0001c0001t0001g0206	3	269	0.0112	-14	c.82- others(31): Show c.82-13087_82-13074delTCTTCTTTCTTTCT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A6_chrX_108150614_108443422	108309801	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19009.hp1 HG02976.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0231 a0002c0002t0001g0188 a0001c0001t0003g0231 a0002c0002t0001g0188	2	234	0.0086	-14	c.144 others(29): Show c.144+933_144+946delGTGTGTGTGTGTGT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108403233	GCTCTCTC others(7): Show GCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03195.hp2 HG06807.hp2 others(4): Show HG02818.hp1 HG03195.hp2 HG06807.hp2 NA19030.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0002c0003	a0001c0001t0003 a0001c0005t0003 a0001c0009t0003 others(1): Show a0001c0001t0003 a0001c0005t0003 a0001c0009t0003 a0002c0003t0003	a0001c0001t0003g0039 a0001c0005t0003g0037 a0001c0005t0003g0038 others(4): Show a0001c0001t0003g0039 a0001c0005t0003g0037 a0001c0005t0003g0038 a0001c0005t0003g0040 a0001c0005t0003g0041 a0001c0009t0003g0036 a0002c0003t0003g0031	7	234	0.0299	-14	c.63+ others(31): Show c.63+34695_63+34708delAGAGAGAGAGAGAG	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL5A1_chr9_134636803_134849843	134699464	TCTCCCTC others(7): Show TCTCCCTCCCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0048 a0001c0006t0048	a0001c0006t0048g0047 a0001c0006t0048g0047	1	272	0.0037	-14	c.278 others(29): Show c.278-431_278-418delCCTCCCTCCCTCCC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	2/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134712027	CCCCCCTT others(7): Show CCCCCCTTCTTCCTG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0004t0018g0029 a0001c0004t0018g0208	2	272	0.0074	-14	c.654 others(33): Show c.654+10708_654+10721delGCCCCCTTCTTCCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134747476	TACACACA others(7): Show TACACACATGCATTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG01106.hp1 others(1): Show HG00642.hp2 HG01099.hp1 HG01106.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0060 a0001c0001 a0001c0003 a0001c0060	a0001c0001t0001 a0001c0001t0002 a0001c0003t0049 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0049 a0001c0060t0004	a0001c0001t0001g0125 a0001c0001t0002g0243 a0001c0003t0049g0158 others(1): Show a0001c0001t0001g0125 a0001c0001t0002g0243 a0001c0003t0049g0158 a0001c0060t0004g0240	4	272	0.0147	-14	c.149 others(33): Show c.1495-3054_1495-3041delTTCACACACATGCA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	11/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134833113	GACAGGCT others(7): Show GACAGGCTGCCCTGC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp1 HG02886.hp1 others(3): Show HG02622.hp1 HG02723.hp1 HG02886.hp1 HG02976.hp1 HG03195.hp2 NA20129.hp1	a0001 a0001	a0001c0018 a0001c0025 a0001c0049 others(1): Show a0001c0018 a0001c0025 a0001c0049 a0001c0051	a0001c0018t0008 a0001c0025t0008 a0001c0025t0015 others(2): Show a0001c0018t0008 a0001c0025t0008 a0001c0025t0015 a0001c0049t0003 a0001c0051t0007	a0001c0018t0008g0179 a0001c0018t0008g0182 a0001c0025t0008g0203 others(3): Show a0001c0018t0008g0179 a0001c0018t0008g0182 a0001c0025t0008g0203 a0001c0025t0015g0007 a0001c0049t0003g0183 a0001c0051t0007g0202	6	272	0.0221	-14	c.513 others(33): Show c.5137-1857_5137-1844delACAGGCTGCCCTGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	64/65			chr9	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02056.hp1 HG03195.hp2 others(6): Show HG00621.hp2 HG02056.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 NA18999.hp1 NA19010.hp2 NA19043.hp1 NA19064.hp2	a0002 a0015 a0024 others(2): Show a0002 a0015 a0024 a0048 a0055	a0002c0002 a0002c0034 a0015c0072 others(4): Show a0002c0002 a0002c0034 a0015c0072 a0024c0039 a0024c0060 a0048c0137 a0055c0116	a0002c0002t0001 a0002c0002t0002 a0002c0034t0002 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0034t0002 a0015c0072t0005 a0024c0039t0014 a0024c0060t0015 a0048c0137t0002 a0055c0116t0002	a0002c0002t0001g0319 a0002c0002t0002g0365 a0002c0034t0002g0121 others(6): Show a0002c0002t0001g0319 a0002c0002t0002g0365 a0002c0034t0002g0121 a0015c0072t0005g0152 a0024c0039t0014g0182 a0024c0039t0014g0192 a0024c0060t0015g0183 a0048c0137t0002g0060 a0055c0116t0002g0112	9	412	0.0218	-14	c.478 others(33): Show c.4782+1446_4782+1459delTTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983576	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0004 a0004	a0004c0108 a0004c0108	a0004c0108t0004 a0004c0108t0004	a0004c0108t0004g0362 a0004c0108t0004g0362	1	412	0.0024	-14	c.240 others(33): Show c.2407-1472_2407-1459delTTCTTTCTTTCTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983580	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp1 HG02559.hp2 HG03139.hp1	a0013 a0013	a0013c0008 a0013c0008	a0013c0008t0001 a0013c0008t0001	a0013c0008t0001g0047 a0013c0008t0001g0052 a0013c0008t0001g0047 a0013c0008t0001g0052	2	412	0.0049	-14	c.240 others(33): Show c.2407-1476_2407-1463delTTCTTTCTTTCTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9994559	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA20905.hp1 NA19043.hp2 NA20905.hp1	a0008 a0027 a0008 a0027	a0008c0004 a0027c0084 a0008c0004 a0027c0084	a0008c0004t0001 a0027c0084t0012 a0008c0004t0001 a0027c0084t0012	a0008c0004t0001g0018 a0027c0084t0012g0167 a0008c0004t0001g0018 a0027c0084t0012g0167	2	412	0.0049	-14	c.158 others(31): Show c.1588-767_1588-754delATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	16/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45977842	AGAGGAGG others(7): Show AGAGGAGGGAGGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	128	0.0078	-14	c.-40 others(25): Show c.-4008_-3995delGAGGAGGGAGGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3927		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45978842	GACCAGCC others(7): Show GACCAGCCTGGCTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0108 a0001c0003t0007g0108	1	128	0.0078	-14	c.-30 others(25): Show c.-3008_-2995delACCAGCCTGGCTAA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		2927		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45980059	AGGCTGAG others(7): Show AGGCTGAGGTGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0058 a0004c0005t0001g0058	1	128	0.0078	-14	c.-17 others(25): Show c.-1791_-1778delGGCTGAGGTGGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1710		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45980538	TTCTGTCT others(7): Show TTCTGTCTCTCTGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(58): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00642.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18945.hp2 NA18983.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0006 a0008 a0009 a0010 a0011 a0012 a0017 a0018 a0019 a0020	a0001c0001 a0001c0003 a0001c0017 others(16): Show a0001c0001 a0001c0003 a0001c0017 a0001c0021 a0001c0024 a0001c0035 a0002c0002 a0002c0008 a0003c0004 a0006c0011 a0008c0015 a0009c0014 a0010c0016 a0011c0019 a0012c0033 a0017c0029 a0018c0031 a0019c0032 a0020c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0015 a0001c0017t0003 a0001c0021t0002 a0001c0024t0003 a0001c0035t0002 a0002c0002t0004 a0002c0008t0004 a0003c0004t0002 a0006c0011t0002 a0008c0015t0002 a0009c0014t0002 a0010c0016t0014 a0011c0019t0003 a0012c0033t0002 a0017c0029t0003 a0018c0031t0013 a0019c0032t0002 a0020c0013t0004	a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 others(58): Show a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0035 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0121 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0001t0016g0100 a0001c0003t0002g0017 a0001c0003t0003g0015 a0001c0003t0003g0019 a0001c0003t0003g0026 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0036 a0001c0003t0003g0124 a0001c0003t0006g0005 a0001c0003t0006g0024 a0001c0003t0006g0031 a0001c0003t0006g0059 a0001c0003t0015g0105 a0001c0017t0003g0016 a0001c0021t0002g0093 a0001c0024t0003g0030 a0001c0035t0002g0010 a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0025 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0008t0004g0032 a0003c0004t0002g0091 a0006c0011t0002g0097 a0006c0011t0002g0110 a0008c0015t0002g0089 a0009c0014t0002g0087 a0010c0016t0014g0090 a0011c0019t0003g0114 a0012c0033t0002g0080 a0017c0029t0003g0022 a0018c0031t0013g0029 a0019c0032t0002g0008 a0020c0013t0004g0018	61	128	0.4766	-14	c.-13 others(25): Show c.-1312_-1299delTCTGTCTCTCTGTC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1231		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45980905	GTGTCTCT others(7): Show GTGTCTCTCTGTCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 NA20752.hp1 HG03239.hp1 NA20752.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0012 a0003c0004t0001 a0003c0004t0012	a0003c0004t0001g0062 a0003c0004t0012g0064 a0003c0004t0001g0062 a0003c0004t0012g0064	2	128	0.0156	-14	c.-94 others(23): Show c.-945_-932delTGTCTCTCTGTCTC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		864		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981604	CCCCGCCC others(7): Show CCCCGCCCCTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0032 a0002c0008t0004g0032	1	128	0.0078	-14	c.-24 others(23): Show c.-246_-233delCCCGCCCCTCCCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		165		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988023	CGGGGTCC others(7): Show CGGGGTCCAGATGGA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01981.hp2 HG03239.hp2 others(1): Show HG01167.hp1 HG01981.hp2 HG03239.hp2 HG03704.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0011c0019 a0001c0001 a0001c0003 a0011c0019	a0001c0001t0003 a0001c0003t0003 a0011c0019t0003 a0001c0001t0003 a0001c0003t0003 a0011c0019t0003	a0001c0001t0003g0013 a0001c0003t0003g0034 a0001c0003t0003g0124 others(1): Show a0001c0001t0003g0013 a0001c0003t0003g0034 a0001c0003t0003g0124 a0011c0019t0003g0114	4	128	0.0313	-14	c.804 others(29): Show c.804+374_804+387delTCCAGATGGAGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988280	CGGGGTCC others(7): Show CGGGGTCCAGATGGA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01167.hp1 HG01258.hp1 others(7): Show HG00423.hp2 HG01167.hp1 HG01258.hp1 HG01496.hp2 HG02922.hp2 HG03017.hp2 HG03239.hp2 HG03704.hp1 HG04228.hp2 NA18612.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0003 a0002c0002 a0002c0008 others(1): Show a0001c0003 a0002c0002 a0002c0008 a0011c0019	a0001c0003t0003 a0001c0003t0006 a0002c0002t0004 others(2): Show a0001c0003t0003 a0001c0003t0006 a0002c0002t0004 a0002c0008t0004 a0011c0019t0003	a0001c0003t0003g0026 a0001c0003t0003g0034 a0001c0003t0003g0124 others(7): Show a0001c0003t0003g0026 a0001c0003t0003g0034 a0001c0003t0003g0124 a0001c0003t0006g0024 a0001c0003t0006g0031 a0001c0003t0006g0059 a0002c0002t0004g0025 a0002c0002t0004g0027 a0002c0008t0004g0032 a0011c0019t0003g0114	10	128	0.0781	-14	c.804 others(29): Show c.804+631_804+644delTCCAGATGGAGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46117558	GCAGCCCA others(7): Show GCAGCCCAGCAGCCC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18955.hp2 HG02698.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0030 a0001c0002 a0001c0030	a0001c0002t0002 a0001c0030t0001 a0001c0002t0002 a0001c0030t0001	a0001c0002t0002g0273 a0001c0030t0001g0160 a0001c0002t0002g0273 a0001c0030t0001g0160	2	372	0.0054	-14	c.105 others(31): Show c.1053+130_1053+143delGCCCCAGCCCAGCA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46117558	GCAGCCCA others(7): Show GCAGCCCAGCAGCCC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18955.hp2 HG02698.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0049 a0001c0002 a0001c0049	a0001c0002t0002 a0001c0049t0001 a0001c0002t0002 a0001c0049t0001	a0001c0002t0002g0270 a0001c0049t0001g0158 a0001c0002t0002g0270 a0001c0049t0001g0158	2	364	0.0055	-14	c.105 others(31): Show c.1053+130_1053+143delGCCCCAGCCCAGCA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46131583	ACACAGAC others(7): Show ACACAGACAGTGGCC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0168 a0001c0004t0001g0168	1	364	0.0028	-14	c.246 others(31): Show c.2462-369_2462-356delACAGACAGTGGCCC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135836	TCCCAGCC others(7): Show TCCCAGCCTCCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01074.hp1 HG01109.hp1 others(11): Show HG00621.hp1 HG01074.hp1 HG01109.hp1 HG02135.hp1 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02683.hp1 HG02886.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 NA18522.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0001 a0002c0003t0001 a0004c0005t0004 a0001c0001t0001 a0002c0003t0001 a0004c0005t0004	a0001c0001t0001g0133 a0002c0003t0001g0083 a0002c0003t0001g0087 others(11): Show a0001c0001t0001g0133 a0002c0003t0001g0083 a0002c0003t0001g0087 a0004c0005t0004g0047 a0004c0005t0004g0194 a0004c0005t0004g0203 a0004c0005t0004g0205 a0004c0005t0004g0206 a0004c0005t0004g0211 a0004c0005t0004g0212 a0004c0005t0004g0213 a0004c0005t0004g0215 a0004c0005t0004g0216 a0004c0005t0004g0230	14	364	0.0385	-14	c.32 others(25): Show c.3285_*3298delCCCAGCCTCCCCTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2989		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135920	AGTCTCCC others(7): Show AGTCTCCCCTCCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0056 a0002c0003t0001g0056	1	364	0.0028	-14	c.33 others(25): Show c.3369_*3382delGTCTCCCCTCCCCG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3073		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135935	GCACCCCC others(7): Show GCACCCCCTCCCTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0069 a0002c0013t0003g0069	1	364	0.0028	-14	c.33 others(25): Show c.3384_*3397delCACCCCCTCCCTGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3088		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332070	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01433.hp1 HG02071.hp1 others(9): Show HG00140.hp2 HG01433.hp1 HG02071.hp1 HG02132.hp2 HG02451.hp2 NA18970.hp2 NA18983.hp2 NA19000.hp1 NA19003.hp2 NA19058.hp1 NA19063.hp2 homoSapiens_chm13v2.hp1	a0002 a0007 a0063 others(2): Show a0002 a0007 a0063 a0067 a0068	a0002c0001 a0002c0022 a0002c0106 others(4): Show a0002c0001 a0002c0022 a0002c0106 a0007c0011 a0063c0057 a0067c0050 a0068c0049	a0002c0001t0001 a0002c0001t0002 a0002c0022t0001 others(5): Show a0002c0001t0001 a0002c0001t0002 a0002c0022t0001 a0002c0106t0002 a0007c0011t0001 a0063c0057t0002 a0067c0050t0001 a0068c0049t0002	a0002c0001t0001g0045 a0002c0001t0001g0193 a0002c0001t0002g0248 others(8): Show a0002c0001t0001g0045 a0002c0001t0001g0193 a0002c0001t0002g0248 a0002c0022t0001g0027 a0002c0106t0002g0231 a0007c0011t0001g0003 a0007c0011t0001g0291 a0007c0011t0001g0309 a0063c0057t0002g0056 a0067c0050t0001g0277 a0068c0049t0002g0279	12	322	0.0373	-14	c.932 others(33): Show c.9328+1366_9328+1379delATATATATATATAT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18971.hp2 NA19088.hp1 HG00558.hp2 NA18971.hp2 NA19088.hp1	a0002 a0002	a0002c0001 a0002c0022 a0002c0001 a0002c0022	a0002c0001t0002 a0002c0022t0002 a0002c0001t0002 a0002c0022t0002	a0002c0001t0002g0241 a0002c0022t0002g0021 a0002c0022t0002g0128 a0002c0001t0002g0241 a0002c0022t0002g0021 a0002c0022t0002g0128	3	322	0.0093	-14	c.766 others(31): Show c.7668+822_7668+835delTTTTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362314	ATATATAT others(7): Show ATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0002 a0012c0011t0002	a0012c0011t0002g0206 a0012c0011t0002g0206	1	292	0.0034	-14	c.-28 others(33): Show c.-28-11295_-28-11282delATATATATATATTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362316	ATATATAT others(7): Show ATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19004.hp2 NA19065.hp1 others(1): Show NA18906.hp2 NA19004.hp2 NA19065.hp1 NA19080.hp2	a0005 a0012 a0060 a0005 a0012 a0060	a0005c0006 a0012c0011 a0060c0074 a0005c0006 a0012c0011 a0060c0074	a0005c0006t0004 a0012c0011t0002 a0060c0074t0002 a0005c0006t0004 a0012c0011t0002 a0060c0074t0002	a0005c0006t0004g0047 a0005c0006t0004g0048 a0012c0011t0002g0205 others(1): Show a0005c0006t0004g0047 a0005c0006t0004g0048 a0012c0011t0002g0205 a0060c0074t0002g0034	4	292	0.0137	-14	c.-28 others(33): Show c.-28-11293_-28-11280delATATATATATTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362318	ATATATAT others(7): Show ATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01109.hp1 HG02523.hp1 others(7): Show HG00597.hp2 HG01109.hp1 HG02523.hp1 NA18947.hp2 NA18980.hp1 NA18992.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19068.hp2	a0004 a0005 a0008 others(4): Show a0004 a0005 a0008 a0009 a0011 a0012 a0073	a0004c0003 a0005c0006 a0008c0010 others(4): Show a0004c0003 a0005c0006 a0008c0010 a0009c0009 a0011c0012 a0012c0011 a0073c0066	a0004c0003t0001 a0005c0006t0004 a0008c0010t0005 others(4): Show a0004c0003t0001 a0005c0006t0004 a0008c0010t0005 a0009c0009t0002 a0011c0012t0002 a0012c0011t0002 a0073c0066t0006	a0004c0003t0001g0207 a0005c0006t0004g0044 a0005c0006t0004g0049 others(7): Show a0004c0003t0001g0207 a0005c0006t0004g0044 a0005c0006t0004g0049 a0005c0006t0004g0050 a0005c0006t0004g0051 a0008c0010t0005g0045 a0009c0009t0002g0095 a0011c0012t0002g0204 a0012c0011t0002g0202 a0073c0066t0006g0060	10	292	0.0343	-14	c.-28 others(33): Show c.-28-11291_-28-11278delATATATATTTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362320	ATATATAT others(7): Show ATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02155.hp2 HG00597.hp1 HG02155.hp2	a0012 a0065 a0012 a0065	a0012c0011 a0065c0060 a0012c0011 a0065c0060	a0012c0011t0002 a0065c0060t0005 a0012c0011t0002 a0065c0060t0005	a0012c0011t0002g0208 a0065c0060t0005g0042 a0012c0011t0002g0208 a0065c0060t0005g0042	2	292	0.0069	-14	c.-28 others(33): Show c.-28-11289_-28-11276delATATATTTTTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130531025	CACACACA others(7): Show CACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0194 a0006c0007t0001g0194	1	264	0.0038	-14	c.-32 others(33): Show c.-32+13642_-32+13655delGACACACACACACA	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590254	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0005 a0012c0009t0005	a0012c0009t0005g0054 a0012c0009t0005g0054	1	264	0.0038	-14	c.421 others(31): Show c.4219-754_4219-741delATATATATATATAT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590287	ATATATAT others(7): Show ATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0032 a0008c0006t0001g0032	1	264	0.0038	-14	c.421 others(31): Show c.4219-752_4219-739delATATATATATATTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar

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