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
COL23A1_chr5_178232618_178595393	178585656	T T	TGGGGTAA others(25): Show TGGGGTAACACTCCACGTCCCTGGTTGATGCTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0161 a0001c0001t0005g0161	1	236	0.0042	32	c.294 others(49): Show c.294+4247_294+4248insCAGCATCAACCAGGGACGTGGAGTGTTA CCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAAAAA others(25): Show AAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG01952.hp1 others(17): Show HG01192.hp2 HG01891.hp1 HG01952.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02165.hp1 HG02572.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG03654.hp2 HG03710.hp2 NA18946.hp2 NA18955.hp1 NA18961.hp2 NA19012.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0010 a0011 a0014 a0021 a0031	a0001c0001 a0002c0003 a0002c0011 others(11): Show a0001c0001 a0002c0003 a0002c0011 a0003c0007 a0003c0016 a0003c0027 a0004c0002 a0006c0062 a0006c0063 a0010c0009 a0011c0015 a0014c0020 a0021c0029 a0031c0043	a0001c0001t0001 a0001c0001t0002 a0002c0003t0002 others(14): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0002 a0002c0003t0008 a0002c0011t0002 a0003c0007t0002 a0003c0016t0005 a0003c0027t0008 a0004c0002t0001 a0004c0002t0007 a0006c0062t0001 a0006c0063t0002 a0010c0009t0001 a0011c0015t0002 a0014c0020t0002 a0021c0029t0001 a0031c0043t0004	a0001c0001t0001g0193 a0001c0001t0002g0162 a0001c0001t0002g0205 others(17): Show a0001c0001t0001g0193 a0001c0001t0002g0162 a0001c0001t0002g0205 a0002c0003t0002g0146 a0002c0003t0008g0150 a0002c0011t0002g0042 a0003c0007t0002g0079 a0003c0016t0005g0012 a0003c0027t0008g0064 a0004c0002t0001g0151 a0004c0002t0007g0004 a0006c0062t0001g0094 a0006c0063t0002g0233 a0010c0009t0001g0031 a0010c0009t0001g0044 a0010c0009t0001g0045 a0011c0015t0002g0027 a0014c0020t0002g0172 a0021c0029t0001g0087 a0031c0043t0004g0105	20	238	0.0840	32	c.395 others(53): Show c.3952-12751_3952-12750insCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01934.hp1 HG00741.hp2 HG01074.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0003 a0001c0001t0001 a0001c0005t0003	a0001c0001t0001g0038 a0001c0001t0001g0164 a0001c0005t0003g0060 a0001c0001t0001g0038 a0001c0001t0001g0164 a0001c0005t0003g0060	3	238	0.0126	32	c.395 others(53): Show c.3952-12782_3952-12751dupCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85858621	C C	CTCCTTCC others(25): Show CTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02056.hp1 HG02074.hp2 others(6): Show HG02015.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG03098.hp2 NA18946.hp2 NA18971.hp1 NA18981.hp1 NA18984.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0015 a0039	a0001c0001 a0002c0003 a0003c0016 others(4): Show a0001c0001 a0002c0003 a0003c0016 a0005c0004 a0006c0017 a0015c0038 a0039c0048	a0001c0001t0001 a0002c0003t0002 a0003c0016t0005 others(6): Show a0001c0001t0001 a0002c0003t0002 a0003c0016t0005 a0003c0016t0006 a0005c0004t0001 a0005c0004t0002 a0006c0017t0006 a0015c0038t0002 a0039c0048t0002	a0001c0001t0001g0193 a0002c0003t0002g0143 a0003c0016t0005g0012 others(6): Show a0001c0001t0001g0193 a0002c0003t0002g0143 a0003c0016t0005g0012 a0003c0016t0006g0013 a0005c0004t0001g0176 a0005c0004t0002g0179 a0006c0017t0006g0009 a0015c0038t0002g0023 a0039c0048t0002g0051	9	238	0.0378	32	c.330 others(51): Show c.3301-9216_3301-9215insAGGAAGGAAGGAAAGAAGGAAGGAAG GAAGGA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	37/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997055	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03471.hp1 HG00423.hp1 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0007 a0001c0005 a0003c0007	a0001c0005t0003 a0003c0007t0001 a0001c0005t0003 a0003c0007t0001	a0001c0005t0003g0224 a0003c0007t0001g0075 a0001c0005t0003g0224 a0003c0007t0001g0075	2	238	0.0084	32	c.231 others(51): Show c.2311-9402_2311-9401insTATATATATATATATACACACACACA CACACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108835861	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0034 a0003c0008t0003g0034	1	130	0.0077	32	c.165 others(51): Show c.1657-3429_1657-3428insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	31/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101385367	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp1 NA19054.hp2 others(1): Show HG00323.hp1 HG01070.hp1 NA19054.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0007 a0001c0001 a0002c0003 a0002c0007	a0001c0001t0002 a0002c0003t0001 a0002c0007t0004 a0001c0001t0002 a0002c0003t0001 a0002c0007t0004	a0001c0001t0002g0124 a0002c0003t0001g0123 a0002c0003t0001g0141 others(1): Show a0001c0001t0002g0124 a0002c0003t0001g0123 a0002c0003t0001g0141 a0002c0007t0004g0037	4	174	0.0230	32	c.158 others(51): Show c.158+22196_158+22197insATATATATATATATATATATATATAT ATATAT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101417602	G G	GTATATCT others(25): Show GTATATCTCTATATCTAGACATAGATATAGAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03486.hp1 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0161 a0002c0004t0001g0148 a0002c0003t0001g0161 a0002c0004t0001g0148	2	174	0.0115	32	c.159 others(49): Show c.159-2368_159-2367insCTATATCTAGACATAGATATAGAGATAT ATCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101417610	A A	ATATATCT others(25): Show ATATATCTAGACATAGATATAGAGATATATCTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA21309.hp1 NA20129.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0030 a0002c0007t0004 a0002c0004t0030 a0002c0007t0004	a0002c0004t0030g0170 a0002c0007t0004g0008 a0002c0004t0030g0170 a0002c0007t0004g0008	2	174	0.0115	32	c.159 others(49): Show c.159-2303_159-2272dupCTATATCTAGACATAGATATAGAGATAT ATCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101417610	A A	ATATATGT others(25): Show ATATATGTAGACATAGATATAGAGATATATCTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0091 a0002c0003t0001g0091	1	174	0.0058	32	c.159 others(49): Show c.159-2362_159-2361insGTAGACATAGATATAGAGATATATCTCT ATAT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463775	T T	TTCTTTCT others(25): Show TTCTTTCTCTCTCTTTCTTTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG03041.hp2 others(1): Show HG02055.hp2 HG02109.hp1 HG03041.hp2 NA18906.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0010 others(1): Show a0001c0001 a0002c0004 a0003c0010 a0003c0017	a0001c0001t0008 a0002c0004t0001 a0003c0010t0005 others(1): Show a0001c0001t0008 a0002c0004t0001 a0003c0010t0005 a0003c0017t0006	a0001c0001t0008g0169 a0002c0004t0001g0168 a0003c0010t0005g0165 others(1): Show a0001c0001t0008g0169 a0002c0004t0001g0168 a0003c0010t0005g0165 a0003c0017t0006g0006	4	174	0.0230	32	c.385 others(51): Show c.385+15995_385+15996insCTCTCTTTCTTTCTTTCTTTCTCTCT CTTTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101507549	G G	GTAGCTAG others(25): Show GTAGCTAGGACCACAGGCACACGCCACCATACC	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA20905.hp2 HG01243.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0112 a0002c0004t0001g0131 a0002c0003t0001g0112 a0002c0004t0001g0131	2	174	0.0115	32	c.386 others(51): Show c.386-25528_386-25527insAGGACCACAGGCACACGCCACCATAC CTAGCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL27A1_chr9_114150537_114317511	114253295	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0003 a0010c0025t0003	a0010c0025t0003g0183 a0010c0025t0003g0183	1	308	0.0033	32	c.314 others(49): Show c.3141+388_3141+389insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	27/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114253295	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0062 a0005c0062	a0005c0062t0002 a0005c0062t0002	a0005c0062t0002g0018 a0005c0062t0002g0018	1	308	0.0033	32	c.314 others(49): Show c.3141+383_3141+384insGAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	27/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL3A1_chr2_188969373_189017746	188972936	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0321 a0002c0002t0001g0321	1	376	0.0027	32	c.-15 others(43): Show c.-1554_-1553insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		1436		chr2	TogoVar
COL4A1_chr13_110143963_110312157	110170113	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG02717.hp2 others(5): Show HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG03130.hp1 HG03453.hp2 HG03486.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0006 a0001c0076 a0002c0002 others(4): Show a0001c0006 a0001c0076 a0002c0002 a0002c0015 a0003c0103 a0003c0111 a0004c0078	a0001c0006t0003 a0001c0076t0003 a0002c0002t0001 others(5): Show a0001c0006t0003 a0001c0076t0003 a0002c0002t0001 a0002c0015t0001 a0002c0015t0004 a0003c0103t0001 a0003c0111t0001 a0004c0078t0001	a0001c0006t0003g0076 a0001c0076t0003g0078 a0002c0002t0001g0200 others(5): Show a0001c0006t0003g0076 a0001c0076t0003g0078 a0002c0002t0001g0200 a0002c0015t0001g0231 a0002c0015t0004g0268 a0003c0103t0001g0240 a0003c0111t0001g0218 a0004c0078t0001g0068	8	344	0.0233	32	c.374 others(49): Show c.3743-352_3743-351insCTTCTTTCCTTCCTTCTTTCCTTCCTTC CTTC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	42/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGAAAGG others(25): Show GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0005 a0001c0073t0005	a0001c0073t0005g0060 a0001c0073t0005g0060	1	344	0.0029	32	c.85- others(49): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(25): Show AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0332 a0003c0014t0002g0332	1	344	0.0029	32	c.85- others(49): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355614	G G	GGGTGGAG others(25): Show GGGTGGAGGGCTGTACAGCTCACCTGTGTGAGT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0122 a0004c0009t0003g0122	1	372	0.0027	32	c.100 others(49): Show c.100-1856_100-1855insTGGAGGGCTGTACAGCTCACCTGTGTGA GTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355661	G G	GTAGCTCA others(25): Show GTAGCTCACCTGTGTGTGGGTGGAGGGCTGCAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0005 a0002c0013t0005	a0002c0013t0005g0188 a0002c0013t0005g0188	1	372	0.0027	32	c.100 others(49): Show c.100-1792_100-1791insTGGAGGGCTGCACTAGCTCACCTGTGTG TGGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355824	C C	CTAGCTCA others(25): Show CTAGCTCACCTGTGTGAGTGGGGAGGGCTGCAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0311 a0001c0011t0004g0311	1	372	0.0027	32	c.100 others(49): Show c.100-1633_100-1632insAGTGGGGAGGGCTGCAGTAGCTCACCTG TGTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355841	G G	GTGGGTGG others(25): Show GTGGGTGGAGGGCTGTACAGCTCACCTGTGTGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0009 a0009	a0009c0088 a0009c0088	a0009c0088t0002 a0009c0088t0002	a0009c0088t0002g0160 a0009c0088t0002g0160	1	372	0.0027	32	c.100 others(49): Show c.100-1631_100-1630insTGGGTGGAGGGCTGTACAGCTCACCTGT GTGA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355843	G G	GGGGGAGG others(25): Show GGGGGAGGGCTGTACTAGCTCACCTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0088 a0001c0003t0003g0088	1	372	0.0027	32	c.100 others(49): Show c.100-1600_100-1599insTGTGGGGAGGGCTGTACTAGCTCACCTG TGTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355843	G G	GGGTGGAG others(25): Show GGGTGGAGAGCTGTACAGCTCACCTGTGTGAGT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18970.hp2 NA19081.hp2 HG03710.hp2 NA18970.hp2 NA19081.hp2	a0001 a0004 a0001 a0004	a0001c0008 a0004c0012 a0004c0030 a0001c0008 a0004c0012 a0004c0030	a0001c0008t0001 a0004c0012t0003 a0004c0030t0001 a0001c0008t0001 a0004c0012t0003 a0004c0030t0001	a0001c0008t0001g0108 a0004c0012t0003g0077 a0004c0030t0001g0179 a0001c0008t0001g0108 a0004c0012t0003g0077 a0004c0030t0001g0179	3	372	0.0081	32	c.100 others(49): Show c.100-1627_100-1626insTGGAGAGCTGTACAGCTCACCTGTGTGA GTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355843	G G	GGGTGGAG others(25): Show GGGTGGAGGGCTGTACAGCTCACCTGTGTGAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(28): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG01074.hp1 HG01175.hp1 HG01192.hp2 HG01981.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp1 HG02602.hp2 HG02615.hp1 HG02976.hp2 HG03486.hp2 HG03834.hp1 HG04228.hp1 NA18944.hp1 NA18953.hp1 NA18954.hp1 NA18963.hp2 NA18970.hp1 NA18979.hp1 NA18982.hp1 NA18991.hp1 NA19062.hp1 NA19065.hp1 NA19084.hp2 NA19088.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0022	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0014 a0001c0016 a0001c0114 a0002c0006 a0002c0013 a0003c0007 a0003c0010 a0003c0018 a0003c0105 a0004c0009 a0005c0020 a0006c0027 a0011c0032 a0022c0078	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0023 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 a0001c0005t0003 a0001c0008t0002 a0001c0011t0004 a0001c0014t0004 a0001c0016t0001 a0001c0016t0007 a0001c0114t0010 a0002c0006t0001 a0002c0006t0005 a0002c0013t0043 a0003c0007t0006 a0003c0010t0005 a0003c0018t0004 a0003c0105t0011 a0004c0009t0002 a0005c0020t0002 a0006c0027t0039 a0011c0032t0003 a0022c0078t0003	a0001c0001t0001g0153 a0001c0001t0002g0338 a0001c0001t0005g0115 others(28): Show a0001c0001t0001g0153 a0001c0001t0002g0338 a0001c0001t0005g0115 a0001c0001t0023g0329 a0001c0002t0001g0180 a0001c0002t0003g0079 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0004t0003g0048 a0001c0004t0004g0287 a0001c0005t0001g0257 a0001c0005t0003g0071 a0001c0008t0002g0276 a0001c0011t0004g0207 a0001c0014t0004g0324 a0001c0016t0001g0109 a0001c0016t0007g0219 a0001c0114t0010g0030 a0002c0006t0001g0114 a0002c0006t0001g0228 a0002c0006t0005g0110 a0002c0013t0043g0016 a0003c0007t0006g0119 a0003c0010t0005g0218 a0003c0018t0004g0309 a0003c0105t0011g0168 a0004c0009t0002g0289 a0005c0020t0002g0270 a0006c0027t0039g0096 a0011c0032t0003g0123 a0022c0078t0003g0138	31	372	0.0833	32	c.100 others(49): Show c.100-1627_100-1626insTGGAGGGCTGTACAGCTCACCTGTGTGA GTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110442803	T T	TGTTATTT others(25): Show TGTTATTTTATAATTTTGAAATAACTCCACAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(133): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG03017.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18941.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19043.hp2 NA19065.hp2 NA19066.hp1 NA19079.hp1 NA19082.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0013 a0015 a0023 a0025 a0026	a0001c0002 a0001c0003 a0001c0004 others(40): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0016 a0001c0024 a0001c0025 a0001c0045 a0001c0046 a0001c0047 a0001c0098 a0001c0100 a0001c0101 a0001c0106 a0002c0006 a0002c0017 a0002c0019 a0002c0035 a0002c0038 a0002c0086 a0002c0087 a0002c0090 a0002c0092 a0002c0097 a0003c0026 a0003c0039 a0003c0044 a0003c0093 a0003c0095 a0003c0116 a0004c0084 a0005c0020 a0005c0021 a0005c0043 a0006c0027 a0009c0088 a0010c0036 a0013c0042 a0015c0109 a0023c0099 a0025c0103 a0026c0104	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(79): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0023 a0001c0002t0029 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0009 a0001c0011t0003 a0001c0011t0004 a0001c0011t0008 a0001c0011t0013 a0001c0011t0022 a0001c0016t0001 a0001c0016t0003 a0001c0016t0007 a0001c0024t0003 a0001c0025t0001 a0001c0045t0003 a0001c0045t0027 a0001c0046t0009 a0001c0047t0002 a0001c0098t0005 a0001c0100t0001 a0001c0101t0019 a0001c0106t0001 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0006t0005 a0002c0006t0006 a0002c0017t0002 a0002c0017t0003 a0002c0019t0002 a0002c0019t0004 a0002c0019t0006 a0002c0019t0037 a0002c0035t0003 a0002c0035t0012 a0002c0038t0001 a0002c0038t0002 a0002c0086t0002 a0002c0087t0001 a0002c0090t0008 a0002c0092t0001 a0002c0097t0015 a0003c0026t0001 a0003c0039t0004 a0003c0044t0004 a0003c0093t0010 a0003c0095t0003 a0003c0116t0022 a0004c0084t0005 a0005c0020t0002 a0005c0020t0006 a0005c0021t0001 a0005c0021t0006 a0005c0021t0028 a0005c0021t0041 a0005c0043t0001 a0005c0043t0002 a0006c0027t0007 a0006c0027t0012 a0006c0027t0039 a0009c0088t0002 a0010c0036t0021 a0013c0042t0002 a0015c0109t0002 a0023c0099t0006 a0025c0103t0004 a0026c0104t0006	a0001c0002t0001g0101 a0001c0002t0001g0152 a0001c0002t0001g0180 others(133): Show a0001c0002t0001g0101 a0001c0002t0001g0152 a0001c0002t0001g0180 a0001c0002t0001g0193 a0001c0002t0001g0243 a0001c0002t0002g0286 a0001c0002t0002g0308 a0001c0002t0002g0318 a0001c0002t0002g0349 a0001c0002t0003g0051 a0001c0002t0003g0067 a0001c0002t0003g0079 a0001c0002t0003g0127 a0001c0002t0003g0136 a0001c0002t0004g0275 a0001c0002t0004g0292 a0001c0002t0005g0100 a0001c0002t0005g0158 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0006g0046 a0001c0002t0008g0012 a0001c0002t0023g0305 a0001c0002t0029g0204 a0001c0003t0002g0293 a0001c0004t0001g0150 a0001c0004t0002g0359 a0001c0004t0003g0059 a0001c0004t0003g0140 a0001c0004t0005g0163 a0001c0005t0001g0102 a0001c0005t0001g0182 a0001c0005t0001g0184 a0001c0005t0001g0249 a0001c0005t0001g0257 a0001c0005t0001g0362 a0001c0005t0002g0297 a0001c0005t0002g0322 a0001c0005t0002g0332 a0001c0005t0002g0337 a0001c0005t0002g0342 a0001c0005t0003g0052 a0001c0005t0003g0071 a0001c0005t0003g0080 a0001c0005t0003g0103 a0001c0005t0009g0013 a0001c0011t0003g0125 a0001c0011t0004g0207 a0001c0011t0004g0311 a0001c0011t0008g0176 a0001c0011t0013g0105 a0001c0011t0013g0220 a0001c0011t0013g0255 a0001c0011t0022g0358 a0001c0016t0001g0109 a0001c0016t0003g0094 a0001c0016t0007g0159 a0001c0016t0007g0219 a0001c0016t0007g0224 a0001c0016t0007g0225 a0001c0016t0007g0235 a0001c0024t0003g0087 a0001c0025t0001g0201 a0001c0045t0003g0021 a0001c0045t0027g0205 a0001c0046t0009g0171 a0001c0047t0002g0310 a0001c0098t0005g0237 a0001c0100t0001g0164 a0001c0101t0019g0129 a0001c0106t0001g0217 a0002c0006t0001g0114 a0002c0006t0001g0228 a0002c0006t0001g0258 a0002c0006t0001g0294 a0002c0006t0002g0024 a0002c0006t0003g0084 a0002c0006t0004g0272 a0002c0006t0005g0110 a0002c0006t0005g0157 a0002c0006t0006g0066 a0002c0006t0006g0070 a0002c0006t0006g0090 a0002c0006t0006g0143 a0002c0006t0006g0144 a0002c0017t0002g0295 a0002c0017t0002g0300 a0002c0017t0002g0316 a0002c0017t0002g0334 a0002c0017t0002g0370 a0002c0017t0003g0126 a0002c0019t0002g0303 a0002c0019t0004g0365 a0002c0019t0006g0131 a0002c0019t0037g0026 a0002c0035t0003g0142 a0002c0035t0012g0328 a0002c0038t0001g0212 a0002c0038t0002g0360 a0002c0086t0002g0279 a0002c0087t0001g0256 a0002c0090t0008g0041 a0002c0092t0001g0230 a0002c0097t0015g0260 a0003c0026t0001g0032 a0003c0026t0001g0034 a0003c0026t0001g0112 a0003c0039t0004g0251 a0003c0044t0004g0326 a0003c0044t0004g0327 a0003c0093t0010g0148 a0003c0095t0003g0082 a0003c0116t0022g0367 a0004c0084t0005g0253 a0005c0020t0002g0270 a0005c0020t0002g0271 a0005c0020t0006g0073 a0005c0020t0006g0097 a0005c0021t0001g0211 a0005c0021t0006g0054 a0005c0021t0028g0239 a0005c0021t0041g0072 a0005c0043t0001g0137 a0005c0043t0002g0273 a0006c0027t0007g0177 a0006c0027t0012g0281 a0006c0027t0039g0096 a0009c0088t0002g0160 a0010c0036t0021g0319 a0010c0036t0021g0320 a0013c0042t0002g0313 a0013c0042t0002g0314 a0015c0109t0002g0321 a0023c0099t0006g0058 a0025c0103t0004g0301 a0026c0104t0006g0085	136	372	0.3656	32	c.958 others(49): Show c.958-2984_958-2953dupTAATTTTGAAATAACTCCACAGAGTTAT TTTA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	16/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203242	T T	TACACATA others(25): Show TACACATATATGTGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp1 HG03130.hp1 others(2): Show HG02630.hp2 HG02976.hp1 HG03130.hp1 HG03225.hp1 NA18981.hp2	a0003 a0006 a0008 others(1): Show a0003 a0006 a0008 a0014	a0003c0002 a0006c0010 a0008c0009 others(1): Show a0003c0002 a0006c0010 a0008c0009 a0014c0023	a0003c0002t0006 a0006c0010t0006 a0008c0009t0001 others(1): Show a0003c0002t0006 a0006c0010t0006 a0008c0009t0001 a0014c0023t0002	a0003c0002t0006g0064 a0006c0010t0006g0063 a0006c0010t0006g0066 others(2): Show a0003c0002t0006g0064 a0006c0010t0006g0063 a0006c0010t0006g0066 a0008c0009t0001g0275 a0014c0023t0002g0338	5	344	0.0145	32	c.88- others(49): Show c.88-34723_88-34722insCATATATGTGTATATATGTGTATATATA CACA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249212	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18747.hp1 HG03704.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0248 a0001c0001t0001g0131 a0001c0001t0001g0248	2	344	0.0058	32	c.546 others(47): Show c.546+711_546+712insATATATATATATATATATATATATATATAT AT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0002 a0013c0015t0002	a0013c0015t0002g0258 a0013c0015t0002g0258	1	344	0.0029	32	c.546 others(47): Show c.546+711_546+712insATATATATATATATATATATATATATATAT TT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	344	0.0029	32	c.546 others(47): Show c.546+711_546+712insATATATATATATATATATATATATATTTTT TT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0194 a0005c0005t0001g0194	1	344	0.0029	32	c.546 others(47): Show c.546+711_546+712insATATATATATATATATATATATATTTTTTT TT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0014 a0003c0040t0014	a0003c0040t0014g0038 a0003c0040t0014g0038	1	344	0.0029	32	c.546 others(47): Show c.546+711_546+712insATATATATATATATATATATTTTTTTTTTT TT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	344	0.0029	32	c.546 others(47): Show c.546+711_546+712insATATATATATATATATATTTTTTTTTTTTT TT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089588	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19091.hp2 NA18944.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0185 a0002c0002t0002g0188	2	284	0.0070	32	c.145 others(49): Show c.1459+279_1459+280insATATATATATATATATATATATATATAT ATAT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089611	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02970.hp1 HG01106.hp1 HG02970.hp1	a0038 a0039 a0038 a0039	a0038c0038 a0039c0067 a0038c0038 a0039c0067	a0038c0038t0005 a0039c0067t0028 a0038c0038t0005 a0039c0067t0028	a0038c0038t0005g0024 a0039c0067t0028g0235 a0038c0038t0005g0024 a0039c0067t0028g0235	2	284	0.0070	32	c.145 others(49): Show c.1459+256_1459+257insCATATATATATATATATATATATATATA TATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134788593	G G	GTGGATAG others(25): Show GTGGATAGACAGATAGATGGATAGAGAGATAGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0003 a0001c0065t0003	a0001c0065t0003g0009 a0001c0065t0003g0009	1	272	0.0037	32	c.264 others(49): Show c.2647-537_2647-506dupGAGATAGATGGATAGACAGATAGATGGA TAGA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	31/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134788888	G G	GTGGGTGG others(25): Show GTGGGTGGGTGGGTAGACAGGTAGACGGATGAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01975.hp2 HG02004.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0016	a0001c0002t0001g0148 a0001c0002t0002g0062 a0001c0002t0016g0237 a0001c0002t0001g0148 a0001c0002t0002g0062 a0001c0002t0016g0237	3	272	0.0110	32	c.264 others(49): Show c.2647-261_2647-230dupGGGTGGGTAGACAGGTAGACGGATGAAT GGGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	31/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189059585	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0153 a0001c0004t0006g0153	1	248	0.0040	32	c.208 others(49): Show c.2086-693_2086-692insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	31/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01192.hp1 HG02056.hp2 others(3): Show HG00408.hp2 HG01192.hp1 HG02056.hp2 HG03654.hp2 HG03704.hp2 NA19057.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0020 a0001c0001 a0014c0020	a0001c0001t0001 a0014c0020t0001 a0001c0001t0001 a0014c0020t0001	a0001c0001t0001g0010 a0001c0001t0001g0053 a0001c0001t0001g0064 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0082 a0001c0001t0001g0106 a0014c0020t0001g0123	6	248	0.0242	32	c.457 others(49): Show c.457-2200_457-2169dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL6A1_chr21_45976770_46010048	45978238	C C	CAGGAGGT others(25): Show CAGGAGGTGAGCGTGAGAGGAGGGAGGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0051 a0002c0002t0008g0051	1	128	0.0078	32	c.-36 others(43): Show c.-3613_-3612insAGGAGGTGAGCGTGAGAGGAGGGAGGGGGGAG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3531		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45978248	C C	CGTGAGAG others(25): Show CGTGAGAGGAGGGGAGGGGGGAGAGGAGTGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	128	0.0078	32	c.-36 others(43): Show c.-3603_-3602insGTGAGAGGAGGGGAGGGGGGAGAGGAGTGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3521		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981656	T T	TCCCGCCC others(25): Show TCCCGCCCCGCCCCTCCCCCTCCCCTCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0091 a0003c0004t0002g0091	1	128	0.0078	32	c.-19 others(41): Show c.-195_-194insCCCGCCCCGCCCCTCCCCCTCCCCTCCCGCCC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		113		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332070	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0311 a0002c0001t0002g0311	1	322	0.0031	32	c.932 others(51): Show c.9328+1348_9328+1379dupATATATATATATATATATATATATAT ATATAT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A6_chr3_130512177_130682042	130637101	T T	TCCCTCCC others(25): Show TCCCTCCCCCTCTCTCCCTCCCCCTCCCCCTCC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0003 a0007c0018t0003	a0007c0018t0003g0015 a0007c0018t0003g0015	1	264	0.0038	32	c.509 others(51): Show c.5091+1351_5091+1352insTCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTC	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(25): Show TATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	262	0.0038	32	c.-12 others(53): Show c.-129+30483_-129+30484insTATATATATATATAGAGAGAGAGA GAGAGAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(25): Show TATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 HG02922.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0045 a0001c0001t0007g0255 a0001c0001t0007g0045 a0001c0001t0007g0255	2	262	0.0076	32	c.-12 others(53): Show c.-129+30483_-129+30484insTATATATATATATATATATATATA TAGAGAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp1 HG01884.hp2 HG02717.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0065 a0007c0014t0001g0066 a0007c0014t0001g0065 a0007c0014t0001g0066	2	362	0.0055	32	c.250 others(51): Show c.2504-1416_2504-1415insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70279648	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0280 a0003c0003t0008g0280	1	362	0.0028	32	c.975 others(49): Show c.975+1163_975+1164insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	10/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318295	C C	CATACATA others(25): Show CATACATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 NA18943.hp2 NA18945.hp1 HG00639.hp1 NA18943.hp2 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0138 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0138	3	438	0.0069	32	c.-10 others(43): Show c.-1099_-1098insATATATATATATATATATATATATATATGTAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1010		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 NA18968.hp1 HG00558.hp2 NA18968.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0001 a0003c0005t0001 a0002c0002t0001 a0003c0005t0001	a0002c0002t0001g0102 a0003c0005t0001g0076 a0002c0002t0001g0102 a0003c0005t0001g0076	2	438	0.0046	32	c.-11 others(43): Show c.-1118_-1117insAAAAAAAATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar

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