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	101446046	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0135 a0001c0001t0005g0135	1	174	0.0058	15	c.282 others(32): Show c.282-1628_282-1614dupAAAAAAAAAAAAAAA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463902	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0120 a0001c0001t0011g0120	1	174	0.0058	15	c.385 others(34): Show c.385+16117_385+16118insCTTTCTTTCTTTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101510027	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0169 a0001c0001t0008g0169	1	174	0.0058	15	c.386 others(34): Show c.386-23041_386-23040insTTTTTTTTTTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL27A1_chr9_114150537_114317511	114182177	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0009 a0009	a0009c0138 a0009c0138	a0009c0138t0006 a0009c0138t0006	a0009c0138t0006g0152 a0009c0138t0006g0152	1	308	0.0033	15	c.196 others(32): Show c.1963-831_1963-830insTAATAATAATAATAA	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	4/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL28A1_chr7_7352875_7540873	7368389	G G	GTTTTTTT others(8): Show GTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	196	0.0051	15	c.306 others(34): Show c.3066+2335_3066+2336insAAAAACAAAAAAAAA	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	33/34			chr7	TogoVar
COL28A1_chr7_7352875_7540873	7368389	G G	GTTTTTTT others(8): Show GTTTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG03139.hp2 others(1): Show HG01891.hp1 HG02055.hp2 HG03139.hp2 NA19043.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0003	a0008c0009t0003g0180 a0008c0009t0003g0181 a0008c0009t0003g0183 others(1): Show a0008c0009t0003g0180 a0008c0009t0003g0181 a0008c0009t0003g0183 a0008c0009t0003g0185	4	196	0.0204	15	c.306 others(34): Show c.3066+2335_3066+2336insAAAACAAAAAAAAAA	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	33/34			chr7	TogoVar
COL28A1_chr7_7352875_7540873	7372398	A A	AAATAAAT others(8): Show AAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp2 NA18906.hp1 NA18906.hp2	a0001 a0014 a0001 a0014	a0001c0007 a0014c0017 a0001c0007 a0014c0017	a0001c0007t0003 a0014c0017t0003 a0001c0007t0003 a0014c0017t0003	a0001c0007t0003g0102 a0014c0017t0003g0057 a0001c0007t0003g0102 a0014c0017t0003g0057	2	196	0.0102	15	c.290 others(32): Show c.2908+599_2908+600insATTTATTTATTTATT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	32/34			chr7	TogoVar
COL28A1_chr7_7352875_7540873	7417546	G G	GAGAGAGG others(8): Show GAGAGAGGGAGAGACA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0177 a0001c0007t0003g0177	1	196	0.0051	15	c.213 others(32): Show c.2136+312_2136+313insTGTCTCTCCCTCTCT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	27/34			chr7	TogoVar
COL2A1_chr12_47967967_48009476	48008160	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0002 a0003c0030t0002	a0003c0030t0002g0100 a0003c0030t0002g0100	1	414	0.0024	15	c.-38 others(26): Show c.-3840_-3839insCTTTCTTTCTTTCTT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3685		chr12	TogoVar
COL3A1_chr2_188969373_189017746	188972936	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01256.hp2 others(6): Show HG01106.hp1 HG01106.hp2 HG01256.hp2 HG02109.hp1 HG02717.hp2 HG03225.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0002c0002 a0013c0017 a0001c0001 a0002c0002 a0013c0017	a0001c0001t0001 a0002c0002t0001 a0013c0017t0001 a0001c0001t0001 a0002c0002t0001 a0013c0017t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 others(6): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0126 a0002c0002t0001g0257 a0002c0002t0001g0264 a0013c0017t0001g0102	9	376	0.0239	15	c.-15 others(26): Show c.-1554_-1553insAAAAAAAAAAAAAAA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		1436		chr2	TogoVar
COL3A1_chr2_188969373_189017746	188997014	T T	TATATATA others(8): Show TATATATATATGAGAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01515.hp2 others(8): Show HG01081.hp1 HG01106.hp1 HG01515.hp2 HG01928.hp2 HG02074.hp2 HG02109.hp2 HG02257.hp1 HG02683.hp1 HG03490.hp1 HG03492.hp2 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0016 a0001c0001 a0001c0003 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0008c0016t0001	a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0125 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0203 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0127 a0001c0003t0002g0305 a0008c0016t0001g0181	11	376	0.0293	15	c.176 others(30): Show c.1762-74_1762-60dupTATATATATGAGACA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	24/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A1_chr13_110143963_110312157	110145379	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA19000.hp1 NA19002.hp2 others(1): Show NA18982.hp2 NA19000.hp1 NA19002.hp2 NA19012.hp1	a0004 a0006 a0004 a0006	a0004c0005 a0004c0021 a0004c0060 others(1): Show a0004c0005 a0004c0021 a0004c0060 a0006c0042	a0004c0005t0001 a0004c0021t0001 a0004c0060t0001 others(1): Show a0004c0005t0001 a0004c0021t0001 a0004c0060t0001 a0006c0042t0002	a0004c0005t0001g0075 a0004c0021t0001g0035 a0004c0060t0001g0016 others(1): Show a0004c0005t0001g0075 a0004c0021t0001g0035 a0004c0060t0001g0016 a0006c0042t0002g0280	4	344	0.0116	15	c.49 others(26): Show c.4983_*4984insTTTTTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding		3583		chr13	TogoVar
COL4A1_chr13_110143963_110312157	110222771	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0216 a0002c0011t0001g0216	1	344	0.0029	15	c.145 others(32): Show c.145-8757_145-8756insTTTTTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255625	C C	CAAGAAGG others(8): Show CAAGAAGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA20129.hp1 HG01192.hp2 NA20129.hp1	a0004 a0004	a0004c0005 a0004c0021 a0004c0005 a0004c0021	a0004c0005t0001 a0004c0021t0001 a0004c0005t0001 a0004c0021t0001	a0004c0005t0001g0031 a0004c0021t0001g0053 a0004c0005t0001g0031 a0004c0021t0001g0053	2	344	0.0058	15	c.85- others(32): Show c.85-12892_85-12891insTCCCCCTCCCTTCTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAAGAAGG others(8): Show CAAGAAGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG00741.hp2 others(16): Show HG00323.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01123.hp1 HG01256.hp1 HG01361.hp2 HG02257.hp1 HG03654.hp2 HG06807.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18992.hp2 NA19056.hp1 NA19058.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0001c0020 others(15): Show a0001c0001 a0001c0007 a0001c0020 a0001c0052 a0001c0066 a0001c0072 a0002c0002 a0002c0004 a0002c0011 a0002c0018 a0002c0024 a0002c0092 a0002c0096 a0003c0027 a0003c0041 a0003c0049 a0004c0005 a0004c0022	a0001c0001t0001 a0001c0007t0001 a0001c0020t0005 others(15): Show a0001c0001t0001 a0001c0007t0001 a0001c0020t0005 a0001c0052t0001 a0001c0066t0001 a0001c0072t0001 a0002c0002t0001 a0002c0004t0001 a0002c0011t0001 a0002c0018t0001 a0002c0024t0002 a0002c0092t0002 a0002c0096t0001 a0003c0027t0001 a0003c0041t0002 a0003c0049t0001 a0004c0005t0001 a0004c0022t0001	a0001c0001t0001g0047 a0001c0007t0001g0065 a0001c0020t0005g0123 others(16): Show a0001c0001t0001g0047 a0001c0007t0001g0065 a0001c0020t0005g0123 a0001c0052t0001g0149 a0001c0066t0001g0151 a0001c0072t0001g0141 a0002c0002t0001g0220 a0002c0004t0001g0260 a0002c0011t0001g0213 a0002c0018t0001g0176 a0002c0024t0002g0281 a0002c0092t0002g0341 a0002c0096t0001g0259 a0003c0027t0001g0261 a0003c0041t0002g0300 a0003c0049t0001g0262 a0004c0005t0001g0056 a0004c0022t0001g0048 a0004c0022t0001g0148	19	344	0.0552	15	c.85- others(32): Show c.85-12935_85-12934insTCCCCCTCCCTTCTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110261035	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02818.hp2 NA18906.hp1 HG02109.hp1 HG02818.hp2 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0029 a0004c0067 a0001c0001 a0002c0029 a0004c0067	a0001c0001t0001 a0002c0029t0003 a0004c0067t0001 a0001c0001t0001 a0002c0029t0003 a0004c0067t0001	a0001c0001t0001g0107 a0002c0029t0003g0215 a0004c0067t0001g0007 a0001c0001t0001g0107 a0002c0029t0003g0215 a0004c0067t0001g0007	3	344	0.0087	15	c.85- others(32): Show c.85-18302_85-18301insTTTTTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509987	A A	ATACCTAT others(8): Show ATACCTATTTCTTGGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0347 a0003c0007t0004g0347	1	372	0.0027	15	c.488 others(34): Show c.4881+1766_4881+1767insTACCTATTTCTTGGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0014 a0006c0010t0001g0014	1	344	0.0029	15	c.546 others(30): Show c.546+711_546+712insATATTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227302677	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02258.hp1 HG03195.hp1 others(10): Show HG02129.hp2 HG02258.hp1 HG03195.hp1 HG03579.hp2 HG04228.hp2 NA18955.hp1 NA18981.hp1 NA18981.hp2 NA18999.hp2 NA19030.hp2 NA19083.hp1 NA19083.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0008 a0012 a0022	a0001c0001 a0002c0004 a0002c0007 others(7): Show a0001c0001 a0002c0004 a0002c0007 a0003c0011 a0003c0039 a0005c0005 a0007c0006 a0008c0009 a0012c0017 a0022c0052	a0001c0001t0001 a0002c0004t0008 a0002c0004t0013 others(8): Show a0001c0001t0001 a0002c0004t0008 a0002c0004t0013 a0002c0007t0001 a0003c0011t0001 a0003c0039t0010 a0005c0005t0001 a0007c0006t0005 a0008c0009t0001 a0012c0017t0008 a0022c0052t0001	a0001c0001t0001g0024 a0002c0004t0008g0040 a0002c0004t0013g0067 others(10): Show a0001c0001t0001g0024 a0002c0004t0008g0040 a0002c0004t0013g0067 a0002c0007t0001g0310 a0003c0011t0001g0002 a0003c0039t0010g0005 a0005c0005t0001g0194 a0007c0006t0005g0126 a0007c0006t0005g0169 a0007c0006t0005g0210 a0008c0009t0001g0275 a0012c0017t0008g0055 a0022c0052t0001g0325	13	344	0.0378	15	c.388 others(32): Show c.3883-346_3883-332dupAAAAAAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	43/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227138133	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01192.hp1 others(2): Show HG00639.hp2 HG01071.hp1 HG01192.hp1 HG03471.hp2 HG04115.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0010	a0001c0001 a0003c0003 a0006c0005 others(1): Show a0001c0001 a0003c0003 a0006c0005 a0010c0017	a0001c0001t0001 a0001c0001t0022 a0003c0003t0003 others(2): Show a0001c0001t0001 a0001c0001t0022 a0003c0003t0003 a0006c0005t0009 a0010c0017t0008	a0001c0001t0001g0117 a0001c0001t0022g0119 a0003c0003t0003g0116 others(2): Show a0001c0001t0001g0117 a0001c0001t0022g0119 a0003c0003t0003g0116 a0006c0005t0009g0283 a0010c0017t0008g0179	5	284	0.0176	15	c.192 others(32): Show c.192+2013_192+2027dupATTATTATTATTATT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	4/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01169.hp2 HG00558.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0190 a0001c0001t0001g0079 a0001c0001t0001g0190	2	269	0.0074	15	c.81+ others(32): Show c.81+33428_81+33429insATATATATATATTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	269	0.0037	15	c.81+ others(32): Show c.81+33428_81+33429insATATATATATTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	269	0.0037	15	c.81+ others(32): Show c.81+33428_81+33429insATATATATTTTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A6_chrX_108150614_108443422	108377941	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18967.hp1 HG01978.hp1 NA18967.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0020 a0002c0003t0002g0004 a0001c0001t0001g0020 a0002c0003t0002g0004	2	234	0.0086	15	c.63+ others(32): Show c.63+59986_63+60000dupTTTTTTTTTTTTTTT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108382962	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0199 a0009c0013t0001g0199	1	234	0.0043	15	c.63+ others(32): Show c.63+54965_63+54979dupATTATTATTATTATT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL5A1_chr9_134636803_134849843	134669235	T T	TCCTTCCC others(8): Show TCCTTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(27): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01433.hp2 HG02056.hp1 HG02165.hp2 HG02257.hp1 HG03492.hp1 HG04115.hp2 NA18970.hp1 NA19005.hp1 NA19057.hp2 NA19064.hp1 NA19067.hp1 NA19080.hp1 NA19240.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0010 a0001c0012 a0001c0022 a0001c0028 a0001c0046 a0001c0056 a0001c0058 a0002c0013 a0002c0041 a0003c0020 a0003c0021 a0003c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0005t0054 a0001c0008t0001 a0001c0010t0003 a0001c0010t0026 a0001c0012t0004 a0001c0022t0002 a0001c0028t0038 a0001c0046t0001 a0001c0056t0001 a0001c0058t0002 a0002c0013t0003 a0002c0041t0002 a0003c0020t0001 a0003c0021t0001 a0003c0038t0001	a0001c0001t0001g0125 a0001c0001t0002g0081 a0001c0001t0002g0165 others(27): Show a0001c0001t0001g0125 a0001c0001t0002g0081 a0001c0001t0002g0165 a0001c0001t0005g0155 a0001c0001t0031g0075 a0001c0002t0001g0156 a0001c0002t0002g0160 a0001c0002t0004g0015 a0001c0002t0004g0150 a0001c0002t0005g0211 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0003g0201 a0001c0005t0054g0167 a0001c0008t0001g0087 a0001c0010t0003g0068 a0001c0010t0026g0049 a0001c0012t0004g0112 a0001c0022t0002g0159 a0001c0028t0038g0138 a0001c0046t0001g0239 a0001c0056t0001g0084 a0001c0058t0002g0127 a0002c0013t0003g0061 a0002c0041t0002g0164 a0003c0020t0001g0120 a0003c0020t0001g0121 a0003c0021t0001g0157 a0003c0021t0001g0166 a0003c0038t0001g0136	30	272	0.1103	15	c.110 others(34): Show c.110-21633_110-21619dupTCCCTTCCCTTCCCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134669289	T T	TCCCTTCC others(8): Show TCCCTTCCCTTCCCTC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0250 a0001c0002t0006g0250	1	272	0.0037	15	c.110 others(34): Show c.110-21619_110-21618insTCCCTTCCCTCCCCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134712012	T T	TCCCCCTC others(8): Show TCCCCCTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0004 a0001c0039t0004	a0001c0039t0004g0197 a0001c0039t0004g0197	1	272	0.0037	15	c.654 others(34): Show c.654+10686_654+10700dupCCTTCCTTCCCCCCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134712042	C C	CCCCCTTC others(8): Show CCCCCTTCTTCCTGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(198): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(50): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0016 a0001c0018 a0001c0019 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0031 a0001c0032 a0001c0033 a0001c0036 a0001c0046 a0001c0047 a0001c0049 a0001c0051 a0001c0052 a0001c0056 a0001c0057 a0001c0058 a0001c0060 a0001c0061 a0001c0065 a0002c0013 a0002c0017 a0003c0020 a0003c0021 a0003c0038 a0003c0059 a0004c0029 a0004c0067 a0006c0034 a0007c0066 a0008c0030 a0009c0054 a0010c0037 a0011c0035 a0012c0043 a0013c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(124): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0024 a0001c0001t0031 a0001c0001t0037 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0001c0002t0013 a0001c0002t0016 a0001c0002t0042 a0001c0002t0056 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0008 a0001c0003t0010 a0001c0003t0014 a0001c0003t0015 a0001c0003t0016 a0001c0003t0021 a0001c0003t0025 a0001c0003t0036 a0001c0003t0049 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0030 a0001c0004t0033 a0001c0005t0003 a0001c0005t0006 a0001c0005t0022 a0001c0005t0045 a0001c0006t0001 a0001c0006t0004 a0001c0006t0007 a0001c0006t0010 a0001c0006t0019 a0001c0006t0047 a0001c0006t0048 a0001c0007t0001 a0001c0007t0004 a0001c0007t0006 a0001c0007t0015 a0001c0007t0017 a0001c0007t0023 a0001c0008t0001 a0001c0008t0002 a0001c0008t0003 a0001c0008t0011 a0001c0008t0034 a0001c0009t0001 a0001c0009t0003 a0001c0009t0023 a0001c0010t0001 a0001c0010t0003 a0001c0010t0026 a0001c0011t0001 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0016t0001 a0001c0016t0012 a0001c0016t0046 a0001c0018t0008 a0001c0019t0001 a0001c0019t0022 a0001c0022t0001 a0001c0022t0002 a0001c0023t0002 a0001c0024t0001 a0001c0025t0008 a0001c0025t0015 a0001c0026t0006 a0001c0026t0041 a0001c0027t0001 a0001c0027t0002 a0001c0028t0004 a0001c0028t0038 a0001c0031t0006 a0001c0032t0010 a0001c0033t0006 a0001c0036t0035 a0001c0046t0001 a0001c0047t0003 a0001c0049t0003 a0001c0051t0007 a0001c0052t0020 a0001c0056t0001 a0001c0057t0002 a0001c0058t0002 a0001c0060t0004 a0001c0061t0013 a0001c0065t0003 a0002c0013t0003 a0002c0013t0021 a0002c0017t0003 a0003c0020t0001 a0003c0021t0001 a0003c0038t0001 a0003c0059t0040 a0004c0029t0002 a0004c0029t0005 a0004c0067t0001 a0006c0034t0009 a0007c0066t0001 a0008c0030t0001 a0009c0054t0002 a0010c0037t0001 a0011c0035t0012 a0012c0043t0043 a0013c0055t0007	a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0041 others(197): Show a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0088 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0212 a0001c0001t0002g0023 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0116 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0002g0243 a0001c0001t0003g0146 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0055 a0001c0001t0005g0119 a0001c0001t0005g0155 a0001c0001t0005g0249 a0001c0001t0006g0110 a0001c0001t0006g0129 a0001c0001t0007g0215 a0001c0001t0009g0109 a0001c0001t0010g0098 a0001c0001t0012g0242 a0001c0001t0020g0194 a0001c0001t0024g0216 a0001c0001t0024g0217 a0001c0001t0031g0075 a0001c0001t0037g0053 a0001c0001t0059g0093 a0001c0002t0001g0018 a0001c0002t0001g0035 a0001c0002t0001g0050 a0001c0002t0001g0058 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0144 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0177 a0001c0002t0001g0209 a0001c0002t0001g0221 a0001c0002t0001g0236 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0002g0030 a0001c0002t0002g0056 a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0002t0002g0077 a0001c0002t0002g0096 a0001c0002t0002g0124 a0001c0002t0002g0126 a0001c0002t0002g0160 a0001c0002t0002g0171 a0001c0002t0003g0083 a0001c0002t0003g0154 a0001c0002t0004g0015 a0001c0002t0004g0150 a0001c0002t0005g0025 a0001c0002t0005g0059 a0001c0002t0005g0060 a0001c0002t0005g0063 a0001c0002t0005g0065 a0001c0002t0005g0117 a0001c0002t0005g0211 a0001c0002t0006g0250 a0001c0002t0011g0095 a0001c0002t0013g0140 a0001c0002t0013g0168 a0001c0002t0016g0237 a0001c0002t0042g0185 a0001c0002t0056g0162 a0001c0003t0001g0123 a0001c0003t0001g0196 a0001c0003t0001g0219 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0002g0001 a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0003t0008g0187 a0001c0003t0010g0039 a0001c0003t0014g0247 a0001c0003t0015g0188 a0001c0003t0016g0099 a0001c0003t0021g0169 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0003t0036g0051 a0001c0003t0049g0158 a0001c0004t0001g0013 a0001c0004t0001g0204 a0001c0004t0002g0046 a0001c0004t0002g0052 a0001c0004t0002g0132 a0001c0004t0002g0172 a0001c0004t0002g0228 a0001c0004t0003g0145 a0001c0004t0004g0089 a0001c0004t0030g0253 a0001c0004t0033g0131 a0001c0005t0003g0265 a0001c0005t0006g0040 a0001c0005t0022g0085 a0001c0005t0045g0267 a0001c0006t0001g0108 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0007g0103 a0001c0006t0010g0031 a0001c0006t0019g0264 a0001c0006t0047g0019 a0001c0006t0048g0047 a0001c0007t0001g0195 a0001c0007t0004g0028 a0001c0007t0006g0002 a0001c0007t0015g0200 a0001c0007t0017g0241 a0001c0007t0023g0232 a0001c0008t0001g0087 a0001c0008t0001g0114 a0001c0008t0001g0149 a0001c0008t0002g0092 a0001c0008t0003g0017 a0001c0008t0011g0091 a0001c0008t0034g0151 a0001c0009t0001g0106 a0001c0009t0003g0261 a0001c0009t0023g0263 a0001c0010t0001g0005 a0001c0010t0001g0006 a0001c0010t0003g0068 a0001c0010t0026g0049 a0001c0011t0001g0191 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0086 a0001c0016t0001g0022 a0001c0016t0012g0021 a0001c0016t0046g0020 a0001c0018t0008g0179 a0001c0018t0008g0182 a0001c0019t0001g0214 a0001c0019t0022g0231 a0001c0022t0001g0181 a0001c0022t0002g0159 a0001c0023t0002g0113 a0001c0024t0001g0207 a0001c0025t0008g0203 a0001c0025t0015g0007 a0001c0026t0006g0101 a0001c0026t0041g0036 a0001c0027t0001g0130 a0001c0027t0002g0090 a0001c0028t0004g0213 a0001c0028t0038g0138 a0001c0031t0006g0048 a0001c0032t0010g0238 a0001c0033t0006g0190 a0001c0036t0035g0045 a0001c0046t0001g0239 a0001c0047t0003g0032 a0001c0049t0003g0183 a0001c0051t0007g0202 a0001c0052t0020g0199 a0001c0056t0001g0084 a0001c0057t0002g0024 a0001c0058t0002g0127 a0001c0060t0004g0240 a0001c0061t0013g0178 a0001c0065t0003g0009 a0002c0013t0003g0061 a0002c0013t0003g0076 a0002c0013t0021g0071 a0002c0017t0003g0118 a0002c0017t0003g0163 a0002c0017t0003g0223 a0003c0020t0001g0120 a0003c0020t0001g0121 a0003c0021t0001g0157 a0003c0021t0001g0166 a0003c0038t0001g0136 a0003c0059t0040g0192 a0004c0029t0002g0097 a0004c0029t0005g0100 a0004c0067t0001g0094 a0006c0034t0009g0193 a0007c0066t0001g0235 a0008c0030t0001g0137 a0009c0054t0002g0141 a0010c0037t0001g0057 a0011c0035t0012g0008 a0012c0043t0043g0037 a0013c0055t0007g0257	201	272	0.7390	15	c.654 others(34): Show c.654+10721_654+10722insGGTCCCCTTCTTCCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189059585	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01169.hp1 HG01516.hp2 others(1): Show HG01081.hp1 HG01169.hp1 HG01516.hp2 NA19001.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0014 a0001c0001 a0003c0014	a0001c0001t0001 a0003c0014t0001 a0001c0001t0001 a0003c0014t0001	a0001c0001t0001g0054 a0001c0001t0001g0085 a0003c0014t0001g0039 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0085 a0003c0014t0001g0039 a0003c0014t0001g0120	4	248	0.0161	15	c.208 others(32): Show c.2086-707_2086-693dupAAAAAAAAAAAAAAA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	31/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9970219	G G	GTGGGGTC others(8): Show GTGGGGTCTGGGTGAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0002 a0023c0027t0002	a0023c0027t0002g0178 a0023c0027t0002g0178	1	412	0.0024	15	c.393 others(32): Show c.3937-298_3937-297insTTCACCCAGACCCCA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9977985	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0343 a0001c0024t0001g0343	1	412	0.0024	15	c.301 others(32): Show c.3019-285_3019-284insTATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	41/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9988851	A A	AAAGAGAG others(8): Show AAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0002 a0002c0020t0002	a0002c0020t0002g0404 a0002c0020t0002g0404	1	412	0.0024	15	c.214 others(32): Show c.2145+272_2145+273insCTCTCTCTCTCTCTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAAAG others(8): Show AAAAAAAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01993.hp2 HG01175.hp1 HG01993.hp2	a0007 a0057 a0007 a0057	a0007c0138 a0057c0141 a0007c0138 a0057c0141	a0007c0138t0003 a0057c0141t0002 a0007c0138t0003 a0057c0141t0002	a0007c0138t0003g0064 a0057c0141t0002g0067 a0007c0138t0003g0064 a0057c0141t0002g0067	2	412	0.0049	15	c.214 others(32): Show c.2145+268_2145+269insCTTTCTCTCTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAGAG others(8): Show AAAAAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0012 a0012	a0012c0087 a0012c0087	a0012c0087t0001 a0012c0087t0001	a0012c0087t0001g0041 a0012c0087t0001g0041	1	412	0.0024	15	c.214 others(32): Show c.2145+268_2145+269insCTTTCTCTCTCTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981637	T T	TCCCCTCC others(8): Show TCCCCTCCCCCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0074 a0001c0012t0005g0074	1	128	0.0078	15	c.-21 others(24): Show c.-214_-213insCCCCTCCCCCCCCGC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		132		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981651	T T	TCCCCCTC others(8): Show TCCCCCTCCCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	128	0.0078	15	c.-20 others(24): Show c.-200_-199insCCCCCTCCCGCCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		118		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981651	T T	TCCCCTCC others(8): Show TCCCCTCCCGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	128	0.0078	15	c.-20 others(24): Show c.-200_-199insCCCCTCCCGCCCCGC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		118		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981671	C C	CCCCTCCC others(8): Show CCCCTCCCCCTCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0115 a0001c0003t0001g0115	1	128	0.0078	15	c.-18 others(24): Show c.-180_-179insCCCTCCCCCTCTCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		98		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981680	T T	TCCCCTCC others(8): Show TCCCCTCCCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0017 a0001c0003t0002g0017	1	128	0.0078	15	c.-17 others(24): Show c.-171_-170insCCCCTCCCCCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		89		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981685	T T	TCCCCTCC others(8): Show TCCCCTCCCGCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0025 a0002c0002t0004g0025	1	128	0.0078	15	c.-16 others(24): Show c.-166_-165insCCCCTCCCGCCCCTC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		84		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981690	T T	TCCCGCCC others(8): Show TCCCGCCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA19043.hp1 NA18612.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0006 a0001c0010t0005 a0001c0003t0006 a0001c0010t0005	a0001c0003t0006g0031 a0001c0010t0005g0075 a0001c0003t0006g0031 a0001c0010t0005g0075	2	128	0.0156	15	c.-16 others(24): Show c.-161_-160insCCCGCCCCTCCCCTC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		79		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45986200	G G	GGCACGCT others(8): Show GGCACGCTCCCTGCCA	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0005 a0001c0003t0006g0005	1	128	0.0078	15	c.429 others(30): Show c.429-325_429-311dupGCACGCTCCCTGCCA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46126476	T T	TGGCCCGG others(8): Show TGGCCCGGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01243.hp1 others(9): Show HG00423.hp2 HG00597.hp1 HG01243.hp1 HG01981.hp2 HG03239.hp2 HG04199.hp2 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2 NA19068.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0003c0033 a0001c0002 a0003c0007 a0003c0033	a0001c0002t0007 a0003c0007t0001 a0003c0007t0007 others(1): Show a0001c0002t0007 a0003c0007t0001 a0003c0007t0007 a0003c0033t0007	a0001c0002t0007g0201 a0003c0007t0001g0204 a0003c0007t0007g0042 others(9): Show a0001c0002t0007g0201 a0003c0007t0001g0204 a0003c0007t0007g0042 a0003c0007t0007g0043 a0003c0007t0007g0048 a0003c0007t0007g0195 a0003c0007t0007g0196 a0003c0007t0007g0197 a0003c0007t0007g0203 a0003c0007t0007g0205 a0003c0007t0007g0206 a0003c0033t0007g0202	12	372	0.0323	15	c.242 others(30): Show c.2423-18_2423-17insCGGCCCGGCCCGGCC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46126476	T T	TGGCCCGG others(8): Show TGGCCCGGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01243.hp1 others(9): Show HG00423.hp2 HG00597.hp1 HG01243.hp1 HG01981.hp2 HG03239.hp2 HG04199.hp2 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2 NA19068.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0044 a0003c0008 a0003c0016 others(1): Show a0001c0044 a0003c0008 a0003c0016 a0003c0054	a0001c0044t0003 a0003c0008t0003 a0003c0016t0001 others(1): Show a0001c0044t0003 a0003c0008t0003 a0003c0016t0001 a0003c0054t0003	a0001c0044t0003g0197 a0003c0008t0003g0044 a0003c0008t0003g0045 others(9): Show a0001c0044t0003g0197 a0003c0008t0003g0044 a0003c0008t0003g0045 a0003c0008t0003g0050 a0003c0008t0003g0191 a0003c0008t0003g0192 a0003c0008t0003g0193 a0003c0008t0003g0199 a0003c0008t0003g0201 a0003c0008t0003g0202 a0003c0016t0001g0200 a0003c0054t0003g0198	12	364	0.0330	15	c.242 others(30): Show c.2423-18_2423-17insCGGCCCGGCCCGGCC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135605	G G	GCCCCCTC others(8): Show GCCCCCTCACAAATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0045 a0003c0008t0003g0045	1	364	0.0028	15	c.30 others(26): Show c.3053_*3054insCCCCCTCACAAATGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2758		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATTA others(8): Show ATATATTATATATATG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01517.hp2 HG02135.hp1 others(9): Show HG01256.hp1 HG01517.hp2 HG02135.hp1 HG02165.hp1 HG02293.hp2 HG02976.hp1 HG03486.hp2 NA18952.hp2 NA18959.hp2 NA19043.hp2 NA19054.hp2 NA19057.hp2	a0001 a0003 a0014 others(6): Show a0001 a0003 a0014 a0016 a0028 a0030 a0033 a0043 a0061	a0001c0004 a0001c0014 a0001c0076 others(9): Show a0001c0004 a0001c0014 a0001c0076 a0001c0079 a0003c0026 a0014c0021 a0016c0019 a0028c0025 a0030c0131 a0033c0141 a0043c0061 a0061c0100	a0001c0004t0002 a0001c0014t0001 a0001c0076t0003 others(9): Show a0001c0004t0002 a0001c0014t0001 a0001c0076t0003 a0001c0079t0002 a0003c0026t0001 a0014c0021t0003 a0016c0019t0002 a0028c0025t0002 a0030c0131t0001 a0033c0141t0002 a0043c0061t0001 a0061c0100t0002	a0001c0004t0002g0220 a0001c0014t0001g0147 a0001c0076t0003g0219 others(9): Show a0001c0004t0002g0220 a0001c0014t0001g0147 a0001c0076t0003g0219 a0001c0079t0002g0062 a0003c0026t0001g0182 a0014c0021t0003g0264 a0016c0019t0002g0302 a0028c0025t0002g0213 a0030c0131t0001g0284 a0033c0141t0002g0026 a0043c0061t0001g0260 a0061c0100t0002g0126	12	322	0.0373	15	c.932 others(34): Show c.9328+1332_9328+1333insCATATATATAATATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130365269	A A	ATGTTTTG others(8): Show ATGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01361.hp2 HG02738.hp1 others(1): Show HG00140.hp2 HG01361.hp2 HG02738.hp1 HG03834.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0010 a0013c0016t0010	a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 others(1): Show a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 a0013c0016t0010g0016	4	292	0.0137	15	c.-28 others(32): Show c.-28-8329_-28-8315dupTTTTGTTTTGTTTTG	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130628712	A A	AAATCCAT others(8): Show AAATCCATTTTAAGAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0100 a0002c0002t0005g0100	1	264	0.0038	15	c.499 others(34): Show c.4992+1344_4992+1358dupAATCCATTTTAAGAT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	26/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0231 a0001c0001t0037g0231	1	262	0.0038	15	c.-3- others(32): Show c.-3-16842_-3-16841insATATATATATATTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar

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