Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL26A1_chr7_101357875_101564024	101476142	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(43): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03704.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0003c0010 a0003c0018	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(17): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0002t0006 a0001c0002t0020 a0001c0005t0005 a0001c0005t0008 a0001c0008t0007 a0001c0009t0003 a0001c0009t0006 a0001c0009t0013 a0001c0013t0010 a0001c0014t0009 a0002c0003t0001 a0002c0004t0001 a0002c0006t0004 a0002c0007t0004 a0003c0010t0022 a0003c0010t0027 a0003c0018t0019	a0001c0001t0002g0064 a0001c0001t0002g0086 a0001c0001t0002g0153 others(43): Show a0001c0001t0002g0064 a0001c0001t0002g0086 a0001c0001t0002g0153 a0001c0001t0002g0174 a0001c0001t0005g0059 a0001c0001t0005g0080 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0154 a0001c0001t0011g0107 a0001c0001t0011g0130 a0001c0002t0006g0009 a0001c0002t0020g0001 a0001c0005t0005g0105 a0001c0005t0005g0124 a0001c0005t0005g0162 a0001c0005t0008g0137 a0001c0008t0007g0071 a0001c0008t0007g0077 a0001c0008t0007g0078 a0001c0008t0007g0079 a0001c0008t0007g0129 a0001c0009t0003g0025 a0001c0009t0006g0018 a0001c0009t0013g0013 a0001c0013t0010g0026 a0001c0013t0010g0038 a0001c0014t0009g0089 a0002c0003t0001g0090 a0002c0003t0001g0096 a0002c0003t0001g0112 a0002c0003t0001g0117 a0002c0003t0001g0148 a0002c0003t0001g0158 a0002c0004t0001g0072 a0002c0004t0001g0149 a0002c0004t0001g0150 a0002c0004t0001g0159 a0002c0006t0004g0012 a0002c0006t0004g0015 a0002c0007t0004g0006 a0002c0007t0004g0008 a0002c0007t0004g0036 a0003c0010t0022g0122 a0003c0010t0027g0151 a0003c0018t0019g0004	46	115	0.4000	-18	c.385 others(37): Show c.385+28374_385+28391delTGTGTGTGTGTGTGTGTG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101483990	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA20300.hp1 HG03516.hp2 NA20300.hp1	a0003 a0003	a0003c0010 a0003c0018 a0003c0010 a0003c0018	a0003c0010t0022 a0003c0018t0019 a0003c0010t0022 a0003c0018t0019	a0003c0010t0022g0122 a0003c0018t0019g0004 a0003c0010t0022g0122 a0003c0018t0019g0004	2	44	0.0455	-18	c.385 others(37): Show c.385+36230_385+36247delGTGTGTGTGTGTGTGTGT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489754	CTCTCTTT others(11): Show CTCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0079 a0001c0008t0007g0079	1	166	0.0060	-18	c.385 others(37): Show c.385+41971_385+41988delCTTTCTTTCTTTCTTTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7400975	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	24	0.0417	-18	c.213 others(39): Show c.2136+16866_2136+16883delACACACACACACACACAC	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	27/34			chr7	TogoVar
COL28A1_chr7_7352875_7540873	7429422	TCTCTCAC others(11): Show TCTCTCACATACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02257.hp1 others(9): Show HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02630.hp2 HG02723.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03209.hp2 HG03540.hp2 NA19043.hp1	a0002 a0013 a0025 others(1): Show a0002 a0013 a0025 a0027	a0002c0004 a0013c0013 a0013c0028 others(2): Show a0002c0004 a0013c0013 a0013c0028 a0025c0043 a0027c0033	a0002c0004t0001 a0013c0013t0001 a0013c0028t0001 others(2): Show a0002c0004t0001 a0013c0013t0001 a0013c0028t0001 a0025c0043t0006 a0027c0033t0001	a0002c0004t0001g0026 a0002c0004t0001g0027 a0002c0004t0001g0028 others(9): Show a0002c0004t0001g0026 a0002c0004t0001g0027 a0002c0004t0001g0028 a0002c0004t0001g0032 a0002c0004t0001g0033 a0002c0004t0001g0088 a0002c0004t0001g0186 a0013c0013t0001g0019 a0013c0013t0001g0022 a0013c0028t0001g0020 a0025c0043t0006g0029 a0027c0033t0001g0031	12	194	0.0619	-18	c.199 others(37): Show c.1998+3033_1998+3050delTGTGTGTGTATGTGAGAG	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	25/34			chr7	TogoVar
COL2A1_chr12_47967967_48009476	48008118	AGAGAGAA others(11): Show AGAGAGAAAGAAAGAAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02004.hp1 HG02683.hp2 others(9): Show HG01081.hp2 HG02004.hp1 HG02683.hp2 HG03017.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 NA18941.hp1 NA18955.hp1 NA19004.hp1 NA19056.hp1 NA19085.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0004 a0001c0047 others(1): Show a0001c0003 a0001c0004 a0001c0047 a0004c0007	a0001c0003t0001 a0001c0004t0001 a0001c0047t0001 others(1): Show a0001c0003t0001 a0001c0004t0001 a0001c0047t0001 a0004c0007t0001	a0001c0003t0001g0006 a0001c0003t0001g0025 a0001c0003t0001g0052 others(8): Show a0001c0003t0001g0006 a0001c0003t0001g0025 a0001c0003t0001g0052 a0001c0003t0001g0244 a0001c0003t0001g0245 a0001c0003t0001g0261 a0001c0004t0001g0055 a0001c0004t0001g0254 a0001c0047t0001g0259 a0004c0007t0001g0024 a0004c0007t0001g0053	12	412	0.0291	-18	c.-38 others(29): Show c.-3815_-3798delCCTTTCTTTCTTTCTCTC	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3643		chr12	TogoVar
COL2A1_chr12_47967967_48009476	48008119	GAGAGAAA others(11): Show GAGAGAAAGAAAGAAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0241 a0001c0003t0011g0241	1	406	0.0025	-18	c.-38 others(29): Show c.-3816_-3799delTCCTTTCTTTCTTTCTCT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3644		chr12	TogoVar
COL3A1_chr2_188969373_189017746	189007096	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG06807.hp2 NA18949.hp1 others(1): Show HG03195.hp2 HG06807.hp2 NA18949.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0152 a0001c0001t0001g0182 a0001c0001t0006g0058 others(1): Show a0001c0001t0001g0152 a0001c0001t0001g0182 a0001c0001t0006g0058 a0001c0001t0006g0115	4	66	0.0606	-18	c.325 others(35): Show c.3255+133_3255+150delATATATATATATATATAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	44/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A1_chr13_110143963_110312157	110201366	CGAGGAGG others(11): Show CGAGGAGGAGGAAGAGGAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02257.hp2 others(6): Show HG01884.hp1 HG01891.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0004 a0002c0030 others(2): Show a0001c0003 a0002c0004 a0002c0030 a0002c0048 a0004c0005	a0001c0003t0001 a0002c0004t0007 a0002c0030t0003 others(2): Show a0001c0003t0001 a0002c0004t0007 a0002c0030t0003 a0002c0048t0001 a0004c0005t0001	a0001c0003t0001g0094 a0001c0003t0001g0095 a0002c0004t0007g0172 others(5): Show a0001c0003t0001g0094 a0001c0003t0001g0095 a0002c0004t0007g0172 a0002c0030t0003g0186 a0002c0030t0003g0253 a0002c0048t0001g0184 a0002c0048t0001g0185 a0004c0005t0001g0001	9	341	0.0264	-18	c.108 others(33): Show c.1084+54_1084+71delCTCCTCTTCCTCCTCCTC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	19/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110219864	GTGTGTGT others(11): Show GTGTGTGTATATATGTATA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0162 a0004c0005t0001g0162	1	290	0.0034	-18	c.145 others(35): Show c.145-5867_145-5850delTATACATATATACACACA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202846	CATATGTG others(11): Show CATATGTGTATATATACAT	C C	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0017 a0002c0007t0001g0017	1	301	0.0033	-18	c.88- others(35): Show c.88-35101_88-35084delATGTGTATATATACATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203084	TATATATG others(11): Show TATATATGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18747.hp2 NA18953.hp2 others(1): Show HG04115.hp1 NA18747.hp2 NA18953.hp2 NA19079.hp1	a0002 a0009 a0011 others(1): Show a0002 a0009 a0011 a0016	a0002c0004 a0009c0008 a0011c0018 others(1): Show a0002c0004 a0009c0008 a0011c0018 a0016c0025	a0002c0004t0003 a0009c0008t0001 a0011c0018t0002 others(1): Show a0002c0004t0003 a0009c0008t0001 a0011c0018t0002 a0016c0025t0003	a0002c0004t0003g0245 a0009c0008t0001g0164 a0011c0018t0002g0125 others(1): Show a0002c0004t0003g0245 a0009c0008t0001g0164 a0011c0018t0002g0125 a0016c0025t0003g0129	4	220	0.0182	-18	c.88- others(35): Show c.88-34867_88-34850delACATATATGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203298	TATATATG others(11): Show TATATATGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02809.hp1 HG03540.hp2 others(2): Show HG00558.hp1 HG02809.hp1 HG03540.hp2 NA18522.hp1 NA19005.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0007 a0003c0011 others(2): Show a0001c0001 a0002c0007 a0003c0011 a0003c0044 a0009c0008	a0001c0001t0001 a0002c0007t0001 a0003c0011t0010 others(2): Show a0001c0001t0001 a0002c0007t0001 a0003c0011t0010 a0003c0044t0012 a0009c0008t0001	a0001c0001t0001g0174 a0002c0007t0001g0311 a0003c0011t0010g0341 others(2): Show a0001c0001t0001g0174 a0002c0007t0001g0311 a0003c0011t0010g0341 a0003c0044t0012g0046 a0009c0008t0001g0224	5	337	0.0148	-18	c.88- others(35): Show c.88-34656_88-34639delTATACATATATGTGTATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203312	TATACATA others(11): Show TATACATATATGTGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0006 a0006c0010t0006	a0006c0010t0006g0216 a0006c0010t0006g0216	1	167	0.0060	-18	c.88- others(35): Show c.88-34638_88-34621delCATACATATATGTGTATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203344	TATATATG others(11): Show TATATATGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG01516.hp2 others(6): Show HG00639.hp1 HG01099.hp1 HG01516.hp2 HG02451.hp2 HG02559.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 NA18906.hp2	a0002 a0004 a0011 others(3): Show a0002 a0004 a0011 a0019 a0023 a0033	a0002c0004 a0004c0003 a0011c0051 others(3): Show a0002c0004 a0004c0003 a0011c0051 a0019c0038 a0023c0035 a0033c0056	a0002c0004t0006 a0002c0004t0008 a0004c0003t0004 others(4): Show a0002c0004t0006 a0002c0004t0008 a0004c0003t0004 a0011c0051t0002 a0019c0038t0003 a0023c0035t0004 a0033c0056t0004	a0002c0004t0006g0234 a0002c0004t0008g0259 a0002c0004t0008g0260 others(6): Show a0002c0004t0006g0234 a0002c0004t0008g0259 a0002c0004t0008g0260 a0004c0003t0004g0240 a0004c0003t0004g0241 a0011c0051t0002g0202 a0019c0038t0003g0157 a0023c0035t0004g0307 a0033c0056t0004g0009	9	337	0.0267	-18	c.88- others(35): Show c.88-34610_88-34593delTATACATATATGTGTATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203419	ATACATAC others(11): Show ATACATACATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01496.hp1 HG02109.hp2 others(10): Show HG01106.hp1 HG01496.hp1 HG02109.hp2 HG02559.hp2 HG02738.hp2 HG02809.hp1 HG02922.hp2 HG03669.hp2 HG04115.hp1 NA18747.hp2 NA18953.hp2 NA19079.hp1 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0009 a0011 a0016 a0021	a0001c0001 a0002c0004 a0002c0007 others(6): Show a0001c0001 a0002c0004 a0002c0007 a0002c0026 a0003c0011 a0009c0008 a0011c0018 a0016c0025 a0021c0043	a0001c0001t0001 a0002c0004t0003 a0002c0007t0001 others(7): Show a0001c0001t0001 a0002c0004t0003 a0002c0007t0001 a0002c0007t0003 a0002c0026t0014 a0003c0011t0009 a0009c0008t0001 a0011c0018t0002 a0016c0025t0003 a0021c0043t0012	a0001c0001t0001g0155 a0001c0001t0001g0189 a0002c0004t0003g0245 others(10): Show a0001c0001t0001g0155 a0001c0001t0001g0189 a0002c0004t0003g0245 a0002c0007t0001g0311 a0002c0007t0003g0145 a0002c0026t0014g0071 a0002c0026t0014g0203 a0003c0011t0009g0156 a0009c0008t0001g0164 a0011c0018t0002g0125 a0011c0018t0002g0162 a0016c0025t0003g0129 a0021c0043t0012g0233	13	329	0.0395	-18	c.88- others(35): Show c.88-34546_88-34529delCATACATATATGTGTGTA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227208793	CACACACA others(11): Show CACACACACACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01099.hp1 others(22): Show HG00639.hp1 HG01071.hp1 HG01099.hp1 HG01516.hp2 HG02055.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG06807.hp2 NA20905.hp1	a0004 a0006 a0012 others(7): Show a0004 a0006 a0012 a0014 a0019 a0023 a0025 a0026 a0027 a0030	a0004c0003 a0006c0010 a0006c0013 others(11): Show a0004c0003 a0006c0010 a0006c0013 a0006c0016 a0006c0034 a0012c0017 a0012c0022 a0014c0023 a0019c0038 a0023c0035 a0025c0055 a0026c0030 a0027c0036 a0030c0032	a0004c0003t0004 a0006c0010t0001 a0006c0010t0003 others(15): Show a0004c0003t0004 a0006c0010t0001 a0006c0010t0003 a0006c0010t0006 a0006c0013t0001 a0006c0013t0009 a0006c0016t0001 a0006c0034t0006 a0012c0017t0006 a0012c0017t0008 a0012c0022t0001 a0014c0023t0002 a0019c0038t0003 a0023c0035t0004 a0025c0055t0001 a0026c0030t0011 a0027c0036t0011 a0030c0032t0012	a0004c0003t0004g0240 a0004c0003t0004g0241 a0006c0010t0001g0014 others(22): Show a0004c0003t0004g0240 a0004c0003t0004g0241 a0006c0010t0001g0014 a0006c0010t0003g0258 a0006c0010t0006g0057 a0006c0010t0006g0063 a0006c0010t0006g0066 a0006c0010t0006g0072 a0006c0010t0006g0216 a0006c0013t0001g0329 a0006c0013t0009g0140 a0006c0013t0009g0226 a0006c0016t0001g0225 a0006c0034t0006g0070 a0012c0017t0006g0003 a0012c0017t0008g0054 a0012c0022t0001g0004 a0014c0023t0002g0080 a0014c0023t0002g0334 a0019c0038t0003g0157 a0023c0035t0004g0307 a0025c0055t0001g0007 a0026c0030t0011g0062 a0027c0036t0011g0043 a0030c0032t0012g0061	25	340	0.0735	-18	c.88- others(35): Show c.88-29171_88-29154delCACACACACATATATACA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227222148	AATAATAA others(11): Show AATAATAATAATAATAATG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02004.hp1 HG02004.hp2 others(21): Show HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02080.hp1 HG03017.hp1 HG03669.hp1 HG03831.hp1 HG04228.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18965.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18983.hp2 NA18990.hp1 NA18994.hp2 NA18999.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0007 a0009 a0013 a0029 a0032	a0001c0001 a0003c0002 a0004c0003 others(5): Show a0001c0001 a0003c0002 a0004c0003 a0007c0006 a0009c0008 a0013c0015 a0029c0046 a0032c0045	a0001c0001t0001 a0001c0001t0002 a0003c0002t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0003c0002t0003 a0004c0003t0003 a0004c0003t0004 a0007c0006t0005 a0009c0008t0001 a0013c0015t0002 a0029c0046t0001 a0032c0045t0002	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(21): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0170 a0001c0001t0001g0319 a0001c0001t0002g0151 a0001c0001t0002g0207 a0001c0001t0002g0223 a0001c0001t0002g0304 a0003c0002t0003g0181 a0004c0003t0003g0299 a0004c0003t0004g0242 a0007c0006t0005g0188 a0009c0008t0001g0077 a0009c0008t0001g0238 a0013c0015t0002g0208 a0029c0046t0001g0312 a0032c0045t0002g0076	24	342	0.0702	-18	c.88- others(35): Show c.88-15814_88-15797delAATAATAATAATGATAAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227291575	AAAAACAA others(11): Show AAAAACAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp2 HG00735.hp2 others(32): Show HG00099.hp1 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01243.hp1 HG01256.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG02004.hp2 HG02258.hp2 HG02280.hp1 HG02683.hp1 HG02698.hp2 HG03098.hp1 HG03130.hp2 HG03710.hp1 HG03834.hp1 NA18522.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18994.hp1 NA18995.hp1 NA19010.hp1 NA19043.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0010 a0011 a0015 a0018 a0019	a0001c0001 a0002c0004 a0002c0027 others(9): Show a0001c0001 a0002c0004 a0002c0027 a0003c0002 a0003c0044 a0005c0005 a0006c0010 a0010c0021 a0011c0018 a0015c0024 a0018c0028 a0019c0038	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0002c0004t0003 a0002c0027t0012 a0003c0002t0003 a0003c0044t0012 a0005c0005t0007 a0006c0010t0003 a0010c0021t0003 a0011c0018t0002 a0015c0024t0002 a0018c0028t0003 a0019c0038t0003	a0001c0001t0002g0094 a0001c0001t0002g0207 a0001c0001t0002g0304 others(32): Show a0001c0001t0002g0094 a0001c0001t0002g0207 a0001c0001t0002g0304 a0001c0001t0003g0269 a0001c0001t0005g0050 a0001c0001t0016g0047 a0002c0004t0003g0178 a0002c0004t0003g0179 a0002c0004t0003g0338 a0002c0027t0012g0011 a0003c0002t0003g0095 a0003c0002t0003g0096 a0003c0002t0003g0103 a0003c0002t0003g0141 a0003c0002t0003g0153 a0003c0002t0003g0161 a0003c0002t0003g0181 a0003c0002t0003g0192 a0003c0002t0003g0197 a0003c0002t0003g0219 a0003c0002t0003g0220 a0003c0002t0003g0310 a0003c0002t0003g0313 a0003c0002t0003g0326 a0003c0044t0012g0046 a0005c0005t0007g0139 a0005c0005t0007g0276 a0006c0010t0003g0148 a0010c0021t0003g0320 a0010c0021t0003g0323 a0011c0018t0002g0158 a0011c0018t0002g0162 a0015c0024t0002g0232 a0018c0028t0003g0012 a0019c0038t0003g0157	35	342	0.1023	-18	c.321 others(35): Show c.3210+694_3210+711delCAAAAAAAAAAAACAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	37/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041820	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0042 a0004c0004t0002g0042	1	272	0.0037	-18	c.350 others(35): Show c.3505+310_3505+327delTTCTTTCTTTCTTTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227091247	CAGATATA others(11): Show CAGATATAGATATAGATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0030 a0003c0003t0030	a0003c0003t0030g0170 a0003c0003t0030g0170	1	150	0.0067	-18	c.137 others(37): Show c.1370-1308_1370-1291delATATCTATATCTATATCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	20/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108526653	TTTCTTTC others(11): Show TTTCTTTCTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp1 HG01433.hp1 HG00099.hp2 HG01074.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0001 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0194 a0001c0001t0005g0193 a0001c0001t0010g0206 a0001c0001t0001g0194 a0001c0001t0005g0193 a0001c0001t0010g0206	3	266	0.0113	-18	c.82- others(35): Show c.82-13091_82-13074delTCTTTCTTCTTTCTTTCT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526656	CTTTCTTC others(11): Show CTTTCTTCTTTCTTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	257	0.0039	-18	c.82- others(35): Show c.82-13087_82-13070delTCTTCTTTCTTTCTCTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A6_chrX_108150614_108443422	108310221	CTTTAAAA others(11): Show CTTTAAAACGTATCCTATG	C C	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0027 a0002c0003t0001g0027	1	232	0.0043	-18	c.144 others(33): Show c.144+509_144+526delCATAGGATACGTTTTAAA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343157	ATATATAT others(11): Show ATATATATAGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03486.hp2 HG03540.hp1 HG02622.hp2 HG03486.hp2 HG03540.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0005 a0005c0006t0001g0006 a0005c0006t0001g0007 a0005c0006t0001g0005 a0005c0006t0001g0006 a0005c0006t0001g0007	3	230	0.0130	-18	c.64- others(35): Show c.64-32347_64-32330delACACACACACTATATATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108351436	CTCTCTCT others(11): Show CTCTCTCTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03486.hp2 HG03540.hp1 HG02622.hp2 HG03486.hp2 HG03540.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0005 a0005c0006t0001g0006 a0005c0006t0001g0007 a0005c0006t0001g0005 a0005c0006t0001g0006 a0005c0006t0001g0007	3	211	0.0142	-18	c.64- others(35): Show c.64-40626_64-40609delCACACACACACAGAGAGA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL5A1_chr9_134636803_134849843	134679578	GGGCACTG others(11): Show GGGCACTGTGGGGCTGGTT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02717.hp1 HG02896.hp2 HG02897.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0007 a0001c0003 a0001c0005 a0001c0007	a0001c0003t0025 a0001c0005t0003 a0001c0007t0014 a0001c0003t0025 a0001c0005t0003 a0001c0007t0014	a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0005t0003g0265 others(1): Show a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0005t0003g0265 a0001c0007t0014g0044	4	270	0.0148	-18	c.110 others(37): Show c.110-11331_110-11314delCACTGTGGGGCTGGTTGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134747861	ACACACAT others(11): Show ACACACATGCAGACACATG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0014 a0014	a0014c0053 a0014c0053	a0014c0053t0029 a0014c0053t0029	a0014c0053t0029g0134 a0014c0053t0029g0134	1	270	0.0037	-18	c.149 others(37): Show c.1495-2670_1495-2653delGACACATGCACACATGCA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	11/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134761197	CCACATGC others(11): Show CCACATGCACACAGGCATA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02647.hp2 others(1): Show HG02451.hp1 HG02486.hp2 HG02647.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0003 a0001c0005t0006 a0001c0005t0014 others(1): Show a0001c0005t0003 a0001c0005t0006 a0001c0005t0014 a0001c0007t0023	a0001c0005t0003g0265 a0001c0005t0006g0039 a0001c0005t0014g0258 others(1): Show a0001c0005t0003g0265 a0001c0005t0006g0039 a0001c0005t0014g0258 a0001c0007t0023g0232	4	270	0.0148	-18	c.193 others(35): Show c.1936-715_1936-698delGGCATACACATGCACACA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134792791	GTGTGCAT others(11): Show GTGTGCATGTGTGCGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02155.hp2 others(17): Show HG01891.hp2 HG02055.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03195.hp1 NA18950.hp1 NA18983.hp1 NA19043.hp2 NA19064.hp1 NA19070.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp1	a0001 a0006 a0014 a0001 a0006 a0014	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0016 a0001c0025 a0006c0062 a0014c0053	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0031 a0001c0002t0002 a0001c0003t0007 a0001c0003t0008 a0001c0003t0025 a0001c0003t0032 a0001c0003t0036 a0001c0007t0014 a0001c0011t0007 a0001c0016t0001 a0001c0016t0012 a0001c0016t0046 a0001c0025t0008 a0006c0062t0011 a0014c0053t0029	a0001c0001t0001g0033 a0001c0001t0003g0133 a0001c0001t0003g0146 others(17): Show a0001c0001t0001g0033 a0001c0001t0003g0133 a0001c0001t0003g0146 a0001c0001t0012g0242 a0001c0001t0031g0075 a0001c0002t0002g0096 a0001c0003t0007g0005 a0001c0003t0008g0186 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0003t0032g0006 a0001c0003t0036g0052 a0001c0007t0014g0044 a0001c0011t0007g0027 a0001c0016t0001g0022 a0001c0016t0012g0021 a0001c0016t0046g0020 a0001c0025t0008g0202 a0006c0062t0011g0026 a0014c0053t0029g0134	20	270	0.0741	-18	c.270 others(37): Show c.2701-2286_2701-2269delCATGTGTGCGTGCATGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	32/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189094588	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0010 a0001c0012t0010	a0001c0012t0010g0040 a0001c0012t0010g0126 a0001c0012t0010g0040 a0001c0012t0010g0126	2	21	0.0952	-18	c.457 others(35): Show c.457-2186_457-2169delGTGTGTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp2 HG01099.hp1 others(11): Show HG00621.hp1 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01358.hp2 HG01496.hp1 NA18949.hp1 NA18949.hp2 NA18963.hp1 NA18982.hp2 NA19063.hp2 NA20300.hp2	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0001 a0001c0112 a0009c0007 others(3): Show a0001c0001 a0001c0112 a0009c0007 a0009c0048 a0010c0015 a0010c0052	a0001c0001t0001 a0001c0112t0004 a0009c0007t0001 others(5): Show a0001c0001t0001 a0001c0112t0004 a0009c0007t0001 a0009c0007t0022 a0009c0007t0024 a0009c0048t0001 a0010c0015t0001 a0010c0052t0010	a0001c0001t0001g0246 a0001c0112t0004g0247 a0009c0007t0001g0115 others(11): Show a0001c0001t0001g0246 a0001c0112t0004g0247 a0009c0007t0001g0115 a0009c0007t0001g0117 a0009c0007t0001g0129 a0009c0007t0001g0132 a0009c0007t0001g0394 a0009c0007t0001g0395 a0009c0007t0022g0078 a0009c0007t0024g0142 a0009c0048t0001g0120 a0010c0015t0001g0105 a0010c0015t0001g0106 a0010c0052t0010g0281	14	26	0.5385	-18	c.478 others(37): Show c.4782+1442_4782+1459delTTTTTTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9970212	TGGGTGAG others(11): Show TGGGTGAGTGGGGGCTGTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(19): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00673.hp2 HG01175.hp1 HG01516.hp2 HG01517.hp1 HG02135.hp2 HG03669.hp1 HG03704.hp1 HG04115.hp1 HG04199.hp2 NA18940.hp2 NA18948.hp2 NA18951.hp2 NA18969.hp2 NA18986.hp2 NA19000.hp2 NA19057.hp2 NA19063.hp1 NA19079.hp1 NA19087.hp2	a0004 a0024 a0040 others(3): Show a0004 a0024 a0040 a0043 a0064 a0072	a0004c0010 a0004c0013 a0004c0108 others(5): Show a0004c0010 a0004c0013 a0004c0108 a0024c0031 a0040c0109 a0043c0141 a0064c0091 a0072c0071	a0004c0010t0001 a0004c0010t0004 a0004c0010t0023 others(9): Show a0004c0010t0001 a0004c0010t0004 a0004c0010t0023 a0004c0013t0004 a0004c0013t0019 a0004c0108t0004 a0024c0031t0001 a0024c0031t0004 a0040c0109t0004 a0043c0141t0002 a0064c0091t0004 a0072c0071t0004	a0004c0010t0001g0250 a0004c0010t0004g0012 a0004c0010t0004g0165 others(18): Show a0004c0010t0001g0250 a0004c0010t0004g0012 a0004c0010t0004g0165 a0004c0010t0004g0167 a0004c0010t0004g0168 a0004c0010t0004g0170 a0004c0010t0004g0171 a0004c0010t0023g0013 a0004c0013t0004g0074 a0004c0013t0004g0085 a0004c0013t0004g0100 a0004c0013t0004g0101 a0004c0013t0004g0313 a0004c0013t0019g0099 a0004c0108t0004g0349 a0024c0031t0001g0002 a0024c0031t0004g0215 a0040c0109t0004g0083 a0043c0141t0002g0067 a0064c0091t0004g0024 a0072c0071t0004g0161	22	304	0.0724	-18	c.393 others(35): Show c.3937-308_3937-291delCACAGCCCCCACTCACCC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9970407	GGGTGAGT others(11): Show GGGTGAGTGGGGGCTGTAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(19): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00673.hp2 HG01175.hp1 HG01516.hp2 HG01517.hp1 HG02135.hp2 HG03669.hp1 HG03704.hp1 HG04115.hp1 HG04199.hp2 NA18940.hp2 NA18948.hp2 NA18951.hp2 NA18969.hp2 NA18986.hp2 NA19000.hp2 NA19057.hp2 NA19063.hp1 NA19079.hp1 NA19087.hp2	a0004 a0024 a0040 others(3): Show a0004 a0024 a0040 a0043 a0064 a0072	a0004c0010 a0004c0013 a0004c0108 others(5): Show a0004c0010 a0004c0013 a0004c0108 a0024c0031 a0040c0109 a0043c0141 a0064c0091 a0072c0071	a0004c0010t0001 a0004c0010t0004 a0004c0010t0023 others(9): Show a0004c0010t0001 a0004c0010t0004 a0004c0010t0023 a0004c0013t0004 a0004c0013t0019 a0004c0108t0004 a0024c0031t0001 a0024c0031t0004 a0040c0109t0004 a0043c0141t0002 a0064c0091t0004 a0072c0071t0004	a0004c0010t0001g0250 a0004c0010t0004g0012 a0004c0010t0004g0165 others(18): Show a0004c0010t0001g0250 a0004c0010t0004g0012 a0004c0010t0004g0165 a0004c0010t0004g0167 a0004c0010t0004g0168 a0004c0010t0004g0170 a0004c0010t0004g0171 a0004c0010t0023g0013 a0004c0013t0004g0074 a0004c0013t0004g0085 a0004c0013t0004g0100 a0004c0013t0004g0101 a0004c0013t0004g0313 a0004c0013t0019g0099 a0004c0108t0004g0349 a0024c0031t0001g0002 a0024c0031t0004g0215 a0040c0109t0004g0083 a0043c0141t0002g0067 a0064c0091t0004g0024 a0072c0071t0004g0161	22	410	0.0537	-18	c.393 others(35): Show c.3936+197_3936+214delTTACAGCCCCCACTCACC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9977947	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00733.hp1 others(79): Show HG00408.hp1 HG00597.hp2 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02004.hp2 HG02015.hp2 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp2 NA18990.hp2 NA19002.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0002 a0014 a0016 others(21): Show a0002 a0014 a0016 a0020 a0024 a0025 a0026 a0029 a0039 a0043 a0049 a0051 a0052 a0053 a0055 a0058 a0059 a0061 a0062 a0063 a0065 a0066 a0074 a0076	a0002c0002 a0002c0020 a0002c0034 others(34): Show a0002c0002 a0002c0020 a0002c0034 a0002c0041 a0002c0053 a0002c0083 a0002c0126 a0002c0130 a0002c0139 a0014c0008 a0016c0036 a0016c0037 a0016c0074 a0016c0107 a0020c0028 a0020c0069 a0024c0031 a0025c0038 a0026c0054 a0026c0084 a0029c0046 a0039c0127 a0043c0141 a0049c0101 a0051c0096 a0052c0076 a0053c0067 a0055c0133 a0058c0099 a0059c0100 a0061c0118 a0062c0095 a0063c0134 a0065c0129 a0066c0128 a0074c0063 a0076c0115	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(41): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0020t0001 a0002c0020t0002 a0002c0034t0002 a0002c0041t0001 a0002c0041t0002 a0002c0053t0001 a0002c0083t0005 a0002c0126t0001 a0002c0130t0001 a0002c0139t0002 a0014c0008t0001 a0016c0036t0001 a0016c0036t0002 a0016c0037t0002 a0016c0074t0002 a0016c0107t0002 a0020c0028t0001 a0020c0028t0002 a0020c0069t0002 a0024c0031t0001 a0024c0031t0004 a0025c0038t0001 a0026c0054t0013 a0026c0084t0012 a0029c0046t0003 a0039c0127t0003 a0043c0141t0002 a0049c0101t0004 a0051c0096t0002 a0052c0076t0007 a0053c0067t0002 a0055c0133t0001 a0058c0099t0002 a0059c0100t0001 a0061c0118t0002 a0062c0095t0002 a0063c0134t0001 a0065c0129t0006 a0066c0128t0001 a0074c0063t0012 a0076c0115t0002	a0002c0002t0001g0071 a0002c0002t0001g0339 a0002c0002t0001g0341 others(78): Show a0002c0002t0001g0071 a0002c0002t0001g0339 a0002c0002t0001g0341 a0002c0002t0002g0080 a0002c0002t0002g0149 a0002c0002t0002g0305 a0002c0002t0002g0312 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0329 a0002c0002t0002g0338 a0002c0002t0002g0342 a0002c0002t0002g0343 a0002c0002t0002g0352 a0002c0002t0002g0354 a0002c0002t0002g0356 a0002c0002t0002g0360 a0002c0002t0002g0361 a0002c0002t0002g0374 a0002c0002t0005g0062 a0002c0020t0001g0072 a0002c0020t0001g0107 a0002c0020t0001g0118 a0002c0020t0002g0098 a0002c0020t0002g0320 a0002c0034t0002g0158 a0002c0034t0002g0173 a0002c0041t0001g0278 a0002c0041t0002g0014 a0002c0053t0001g0321 a0002c0053t0001g0387 a0002c0083t0005g0163 a0002c0126t0001g0245 a0002c0130t0001g0340 a0002c0139t0002g0068 a0014c0008t0001g0044 a0014c0008t0001g0045 a0014c0008t0001g0046 a0014c0008t0001g0047 a0014c0008t0001g0048 a0014c0008t0001g0049 a0014c0008t0001g0051 a0014c0008t0001g0052 a0014c0008t0001g0400 a0016c0036t0001g0123 a0016c0036t0001g0124 a0016c0036t0002g0125 a0016c0037t0002g0143 a0016c0037t0002g0144 a0016c0037t0002g0145 a0016c0074t0002g0251 a0016c0107t0002g0122 a0020c0028t0001g0193 a0020c0028t0001g0210 a0020c0028t0002g0194 a0020c0069t0002g0282 a0024c0031t0001g0002 a0024c0031t0004g0215 a0025c0038t0001g0219 a0025c0038t0001g0223 a0026c0054t0013g0006 a0026c0054t0013g0007 a0026c0084t0012g0178 a0029c0046t0003g0015 a0029c0046t0003g0026 a0039c0127t0003g0146 a0043c0141t0002g0067 a0049c0101t0004g0041 a0051c0096t0002g0009 a0052c0076t0007g0057 a0053c0067t0002g0283 a0055c0133t0001g0358 a0058c0099t0002g0042 a0059c0100t0001g0040 a0061c0118t0002g0186 a0062c0095t0002g0037 a0063c0134t0001g0287 a0065c0129t0006g0060 a0066c0128t0001g0353 a0074c0063t0012g0217 a0076c0115t0002g0290	82	168	0.4881	-18	c.301 others(35): Show c.3019-264_3019-247delATATATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	41/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983576	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0062 a0062	a0062c0095 a0062c0095	a0062c0095t0002 a0062c0095t0002	a0062c0095t0002g0037 a0062c0095t0002g0037	1	408	0.0025	-18	c.240 others(37): Show c.2407-1476_2407-1459delTTCTTTCTTTCTTTCTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9994559	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02071.hp1 others(1): Show HG01069.hp1 HG01071.hp2 HG02071.hp1 HG02630.hp2	a0001 a0008 a0054 a0001 a0008 a0054	a0001c0016 a0008c0004 a0054c0098 a0001c0016 a0008c0004 a0054c0098	a0001c0016t0002 a0008c0004t0001 a0054c0098t0001 a0001c0016t0002 a0008c0004t0001 a0054c0098t0001	a0001c0016t0002g0005 a0008c0004t0001g0034 a0054c0098t0001g0008 a0001c0016t0002g0005 a0008c0004t0001g0034 a0054c0098t0001g0008	4	60	0.0667	-18	c.158 others(35): Show c.1588-771_1588-754delATATATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	16/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981581	CCCGCCCC others(11): Show CCCGCCCCGCCCCTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01255.hp1 others(2): Show HG01074.hp1 HG01074.hp2 HG01255.hp1 HG01361.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0017 others(1): Show a0001c0001 a0001c0003 a0001c0017 a0002c0002	a0001c0001t0003 a0001c0003t0003 a0001c0017t0003 others(1): Show a0001c0001t0003 a0001c0003t0003 a0001c0017t0003 a0002c0002t0004	a0001c0001t0003g0014 a0001c0003t0003g0036 a0001c0017t0003g0016 others(2): Show a0001c0001t0003g0014 a0001c0003t0003g0036 a0001c0017t0003g0016 a0002c0002t0004g0021 a0002c0002t0004g0029	5	125	0.0400	-18	c.-26 others(27): Show c.-269_-252delCCGCCCCGCCCCTCCCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		188		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981585	CCCCGCCC others(11): Show CCCCGCCCCTCCCCTCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG03017.hp2 HG00323.hp2 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0006 a0002c0002t0004 a0001c0003t0006 a0002c0002t0004	a0001c0003t0006g0026 a0002c0002t0004g0023 a0001c0003t0006g0026 a0002c0002t0004g0023	2	126	0.0159	-18	c.-26 others(27): Show c.-265_-248delCCCGCCCCTCCCCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		184		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981604	CCCCGCCC others(11): Show CCCCGCCCCTCCCCTCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02602.hp1 HG02258.hp2 HG02602.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0001 a0005c0006t0001 a0002c0002t0001 a0005c0006t0001	a0002c0002t0001g0127 a0005c0006t0001g0063 a0002c0002t0001g0127 a0005c0006t0001g0063	2	122	0.0164	-18	c.-24 others(27): Show c.-246_-229delCCCGCCCCTCCCCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		165		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46116926	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show HG00639.hp2 HG02055.hp2 HG02083.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03710.hp1 HG04115.hp2 HG04204.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0006 a0002c0003 a0002c0034 others(1): Show a0001c0006 a0002c0003 a0002c0034 a0007c0036	a0001c0006t0008 a0002c0003t0008 a0002c0034t0008 others(1): Show a0001c0006t0008 a0002c0003t0008 a0002c0034t0008 a0007c0036t0008	a0001c0006t0008g0300 a0002c0003t0008g0218 a0002c0003t0008g0219 others(6): Show a0001c0006t0008g0300 a0002c0003t0008g0218 a0002c0003t0008g0219 a0002c0003t0008g0220 a0002c0003t0008g0221 a0002c0003t0008g0223 a0002c0003t0008g0224 a0002c0034t0008g0048 a0007c0036t0008g0222	9	60	0.1500	-18	c.999 others(33): Show c.999+125_999+142delACACACACACACACACAC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134701	GAGGGTCA others(11): Show GAGGGTCAGGGTCAGGGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01123.hp2 others(3): Show HG01069.hp1 HG01071.hp2 HG01123.hp2 HG01257.hp1 HG01258.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 a0001c0001 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 a0001c0001t0001 a0001c0005t0001 a0001c0009t0001	a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0176 others(3): Show a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0176 a0001c0005t0001g0002 a0001c0009t0001g0108 a0001c0009t0001g0117	6	278	0.0216	-18	c.52 others(29): Show c.5211_*5228delAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4901		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46116926	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show HG00639.hp2 HG02055.hp2 HG02083.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03710.hp1 HG04115.hp2 HG04204.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0007 a0002c0003 a0002c0013 others(3): Show a0001c0007 a0002c0003 a0002c0013 a0002c0031 a0002c0055 a0010c0057	a0001c0007t0001 a0002c0003t0001 a0002c0013t0001 others(3): Show a0001c0007t0001 a0002c0003t0001 a0002c0013t0001 a0002c0031t0001 a0002c0055t0001 a0010c0057t0001	a0001c0007t0001g0301 a0002c0003t0001g0221 a0002c0003t0001g0222 others(6): Show a0001c0007t0001g0301 a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0013t0001g0216 a0002c0013t0001g0218 a0002c0031t0001g0217 a0002c0031t0001g0219 a0002c0055t0001g0049 a0010c0057t0001g0220	9	60	0.1500	-18	c.999 others(33): Show c.999+125_999+142delACACACACACACACACAC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134701	GAGGGTCA others(11): Show GAGGGTCAGGGTCAGGGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01123.hp2 others(3): Show HG01069.hp1 HG01071.hp2 HG01123.hp2 HG01257.hp1 HG01258.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 others(1): Show a0001c0001 a0001c0004 a0001c0011 a0001c0021	a0001c0001t0006 a0001c0004t0001 a0001c0011t0001 others(1): Show a0001c0001t0006 a0001c0004t0001 a0001c0011t0001 a0001c0021t0006	a0001c0001t0006g0133 a0001c0004t0001g0008 a0001c0011t0001g0107 others(3): Show a0001c0001t0006g0133 a0001c0004t0001g0008 a0001c0011t0001g0107 a0001c0011t0001g0116 a0001c0021t0006g0144 a0001c0021t0006g0175	6	271	0.0221	-18	c.21 others(29): Show c.2150_*2167delAGGGTCAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1854		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237415349	AGAGAAAA others(11): Show AGAGAAAAAAGAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0002 a0012c0018t0002g0002	2	319	0.0063	-18	c.-14 others(29): Show c.-1445_-1428delCTTTTTTTCTTTTTTCTC	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding		1186		chr2	TogoVar
COL6A5_chr3_130340672_130489846	130439339	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03491.hp1 HG03492.hp1 HG01256.hp1 HG03491.hp1 HG03492.hp1	a0007 a0007	a0007c0008 a0007c0081 a0007c0008 a0007c0081	a0007c0008t0003 a0007c0081t0002 a0007c0008t0003 a0007c0081t0002	a0007c0008t0003g0002 a0007c0081t0002g0257 a0007c0008t0003g0002 a0007c0081t0002g0257	3	47	0.0638	-18	c.573 others(35): Show c.5734-160_5734-143delTGTGTGTGTGTGTGTGTG	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	33/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590291	ATATATAT others(11): Show ATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0016 a0016	a0016c0065 a0016c0065	a0016c0065t0002 a0016c0065t0002	a0016c0065t0002g0203 a0016c0065t0002g0203	1	258	0.0039	-18	c.421 others(35): Show c.4219-748_4219-731delATATATATTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590293	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0002 a0011c0008t0002	a0011c0008t0002g0049 a0011c0008t0002g0049	1	230	0.0043	-18	c.421 others(35): Show c.4219-746_4219-729delATATATTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590297	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02129.hp2 NA18995.hp1 others(1): Show HG01071.hp2 HG02129.hp2 NA18995.hp1 NA18998.hp1	a0003 a0005 a0030 a0003 a0005 a0030	a0003c0004 a0005c0003 a0030c0066 a0003c0004 a0005c0003 a0030c0066	a0003c0004t0009 a0003c0004t0010 a0005c0003t0001 others(1): Show a0003c0004t0009 a0003c0004t0010 a0005c0003t0001 a0030c0066t0003	a0003c0004t0009g0247 a0003c0004t0010g0248 a0005c0003t0001g0151 others(1): Show a0003c0004t0009g0247 a0003c0004t0010g0248 a0005c0003t0001g0151 a0030c0066t0003g0175	4	189	0.0212	-18	c.421 others(35): Show c.4219-742_4219-725delATTTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590299	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0022 a0022	a0022c0073 a0022c0073	a0022c0073t0028 a0022c0073t0028	a0022c0073t0028g0218 a0022c0073t0028g0218	1	135	0.0074	-18	c.421 others(35): Show c.4219-729_4219-712delTTTTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar

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