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 per page.

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
COG3_chr13_45459939_45541701	45486297	CGGGAGAC others(15): Show CGGGAGACGGGAGACGGGAGACG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0014 a0002c0005t0014	a0002c0005t0014g0206 a0002c0005t0014g0206	1	342	0.0029	-22	c.844 others(37): Show c.844-195_844-174delGAGACGGGAGACGGGAGACGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG4_chr16_70475571_70528554	70527726	CGTTTTTG others(15): Show CGTTTTTGTTTTTTGTTTGTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	354	0.0028	-22	c.-42 others(33): Show c.-4205_-4184delAAAACAAACAAAAAACAAAAAC	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding		4173		chr16	TogoVar
COG7_chr16_23383493_23458189	23408305	GGGGGCGA others(15): Show GGGGGCGAGTGGGGCGGGAGGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	272	0.0037	-22	c.147 others(41): Show c.1475+1968_1475+1989delTACCTCCCGCCCCACTCGCCCC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COG7_chr16_23383493_23458189	23408373	GGGGACGA others(15): Show GGGGACGAGTGGGGCGGGAGGTA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02300.hp1 NA19060.hp1 HG00609.hp2 HG02300.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0073 a0001c0001t0002g0085 a0001c0001t0002g0054 a0001c0001t0002g0073 a0001c0001t0002g0085	3	272	0.0110	-22	c.147 others(41): Show c.1475+1900_1475+1921delTACCTCCCGCCCCACTCGTCCC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COL14A1_chr8_120120102_120378573	120200715	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0140 a0002c0012t0002g0140	1	218	0.0046	-22	c.877 others(39): Show c.877+1179_877+1200delATATATATATATATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL17A1_chr10_104026286_104090880	104038231	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02129.hp2 HG02280.hp2 others(6): Show HG01891.hp1 HG02129.hp2 HG02280.hp2 HG02559.hp1 HG02970.hp1 HG03139.hp2 HG03225.hp2 HG03579.hp1 NA19240.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0007c0034 others(1): Show a0001c0001 a0007c0011 a0007c0034 a0007c0038	a0001c0001t0003 a0007c0011t0001 a0007c0034t0001 others(1): Show a0001c0001t0003 a0007c0011t0001 a0007c0034t0001 a0007c0038t0001	a0001c0001t0003g0038 a0007c0011t0001g0019 a0007c0011t0001g0189 others(5): Show a0001c0001t0003g0038 a0007c0011t0001g0019 a0007c0011t0001g0189 a0007c0011t0001g0190 a0007c0011t0001g0192 a0007c0011t0001g0193 a0007c0034t0001g0264 a0007c0038t0001g0188	9	336	0.0268	-22	c.307 others(39): Show c.3070+153_3070+174delGTGTGTGTGTGTGTGTGTGTGT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	45/55			chr10	TogoVar
COL18A1_chr21_45400165_45518720	45405064	GCCCGCCC others(15): Show GCCCGCCCCCTGCCCGCGCCCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0289 a0001c0003t0001g0289	1	292	0.0034	-22	c.-16 others(31): Show c.-166_-145delCCCGCCCCCTGCCCGCGCCCGC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding		100		chr21	TogoVar
COL18A1_chr21_45400165_45518720	45405080	CGCCCGCC others(15): Show CGCCCGCCCCGCCCCCTGCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0079 a0001c0079	a0001c0079t0001 a0001c0079t0001	a0001c0079t0001g0042 a0001c0079t0001g0042	1	292	0.0034	-22	c.-15 others(31): Show c.-150_-129delGCCCGCCCCGCCCCCTGCCCGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding		84		chr21	TogoVar
COL18A1_chr21_45400165_45518720	45405091	CCCCCTGC others(15): Show CCCCCTGCCCGGCCCCTGCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(109): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18975.hp1 NA18977.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp2 NA19088.hp1 NA19091.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0016 a0017 a0018 a0020 a0021 a0023 a0025 a0030 a0033	a0001c0001 a0001c0002 a0001c0003 others(46): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0001c0013 a0001c0019 a0001c0022 a0001c0025 a0001c0027 a0001c0032 a0001c0033 a0001c0037 a0001c0041 a0001c0055 a0001c0062 a0001c0063 a0001c0073 a0001c0081 a0001c0082 a0001c0089 a0002c0012 a0002c0020 a0002c0021 a0002c0103 a0003c0009 a0003c0010 a0003c0015 a0003c0047 a0004c0023 a0005c0058 a0006c0026 a0006c0072 a0007c0031 a0007c0034 a0008c0018 a0011c0040 a0012c0065 a0016c0042 a0017c0043 a0018c0095 a0020c0094 a0021c0086 a0023c0085 a0025c0050 a0030c0056 a0033c0077	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(52): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0008 a0001c0004t0001 a0001c0004t0016 a0001c0005t0002 a0001c0005t0007 a0001c0007t0002 a0001c0011t0001 a0001c0013t0002 a0001c0019t0003 a0001c0022t0001 a0001c0025t0002 a0001c0027t0001 a0001c0032t0001 a0001c0033t0002 a0001c0037t0001 a0001c0041t0001 a0001c0055t0003 a0001c0062t0002 a0001c0063t0001 a0001c0073t0003 a0001c0081t0003 a0001c0082t0008 a0001c0089t0001 a0002c0012t0004 a0002c0020t0003 a0002c0021t0002 a0002c0103t0001 a0003c0009t0001 a0003c0010t0002 a0003c0015t0001 a0003c0047t0001 a0004c0023t0002 a0005c0058t0001 a0006c0026t0003 a0006c0072t0002 a0007c0031t0002 a0007c0034t0001 a0008c0018t0005 a0011c0040t0001 a0012c0065t0002 a0016c0042t0001 a0017c0043t0002 a0018c0095t0001 a0020c0094t0011 a0021c0086t0002 a0023c0085t0002 a0025c0050t0002 a0030c0056t0001 a0033c0077t0003	a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0099 others(109): Show a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0004g0129 a0001c0002t0001g0024 a0001c0002t0002g0060 a0001c0002t0002g0074 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0111 a0001c0002t0002g0114 a0001c0002t0002g0117 a0001c0002t0002g0133 a0001c0002t0002g0140 a0001c0002t0002g0188 a0001c0002t0003g0143 a0001c0003t0001g0048 a0001c0003t0001g0081 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0001g0145 a0001c0003t0001g0153 a0001c0003t0001g0193 a0001c0003t0001g0221 a0001c0003t0008g0166 a0001c0004t0001g0032 a0001c0004t0001g0112 a0001c0004t0001g0255 a0001c0004t0016g0051 a0001c0005t0002g0070 a0001c0005t0002g0158 a0001c0005t0007g0262 a0001c0005t0007g0263 a0001c0007t0002g0161 a0001c0007t0002g0185 a0001c0007t0002g0194 a0001c0011t0001g0050 a0001c0013t0002g0122 a0001c0019t0003g0065 a0001c0019t0003g0139 a0001c0022t0001g0021 a0001c0022t0001g0131 a0001c0025t0002g0159 a0001c0025t0002g0164 a0001c0027t0001g0019 a0001c0027t0001g0020 a0001c0032t0001g0147 a0001c0032t0001g0162 a0001c0033t0002g0100 a0001c0033t0002g0169 a0001c0037t0001g0157 a0001c0041t0001g0155 a0001c0055t0003g0152 a0001c0062t0002g0097 a0001c0063t0001g0144 a0001c0073t0003g0034 a0001c0081t0003g0154 a0001c0082t0008g0053 a0001c0089t0001g0119 a0002c0012t0004g0049 a0002c0012t0004g0199 a0002c0020t0003g0156 a0002c0021t0002g0148 a0002c0103t0001g0136 a0003c0009t0001g0054 a0003c0009t0001g0171 a0003c0010t0002g0068 a0003c0010t0002g0151 a0003c0015t0001g0168 a0003c0015t0001g0189 a0003c0015t0001g0202 a0003c0047t0001g0069 a0004c0023t0002g0138 a0004c0023t0002g0163 a0005c0058t0001g0165 a0006c0026t0003g0219 a0006c0072t0002g0082 a0007c0031t0002g0123 a0007c0031t0002g0160 a0007c0034t0001g0141 a0008c0018t0005g0067 a0008c0018t0005g0130 a0008c0018t0005g0132 a0011c0040t0001g0076 a0012c0065t0002g0096 a0016c0042t0001g0118 a0017c0043t0002g0015 a0018c0095t0001g0146 a0020c0094t0011g0075 a0021c0086t0002g0176 a0023c0085t0002g0106 a0025c0050t0002g0108 a0030c0056t0001g0044 a0033c0077t0003g0098	112	292	0.3836	-22	c.-13 others(31): Show c.-139_-118delCCCCTGCCCGGCCCCTGCCCGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding		73		chr21	TogoVar
COL18A1_chr21_45400165_45518720	45444322	GGCGTGCA others(15): Show GGCGTGCAGGGGTGTAGTGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01346.hp2 HG02258.hp2 others(5): Show HG01258.hp2 HG01346.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02717.hp1 HG02717.hp2 NA21309.hp1	a0001 a0011 a0018 others(2): Show a0001 a0011 a0018 a0019 a0020	a0001c0003 a0011c0040 a0011c0104 others(3): Show a0001c0003 a0011c0040 a0011c0104 a0018c0095 a0019c0096 a0020c0094	a0001c0003t0001 a0011c0040t0001 a0011c0104t0002 others(3): Show a0001c0003t0001 a0011c0040t0001 a0011c0104t0002 a0018c0095t0001 a0019c0096t0015 a0020c0094t0011	a0001c0003t0001g0110 a0001c0003t0001g0287 a0011c0040t0001g0046 others(5): Show a0001c0003t0001g0110 a0001c0003t0001g0287 a0011c0040t0001g0046 a0011c0040t0001g0076 a0011c0104t0002g0003 a0018c0095t0001g0146 a0019c0096t0015g0045 a0020c0094t0011g0075	8	292	0.0274	-22	c.107 others(41): Show c.107-23896_107-23875delCGTGCAGGGGTGTAGTGAGGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45490030	TTCCCCGT others(15): Show TTCCCCGTCCCCCACACCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0098 a0001c0098	a0001c0098t0001 a0001c0098t0001	a0001c0098t0001g0007 a0001c0098t0001g0007	1	292	0.0034	-22	c.196 others(39): Show c.1960-244_1960-223delTCCCCGTCCCCCACACCTCCTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41			chr21	TogoVar
COL18A1_chr21_45400165_45518720	45506748	GCCCTCCC others(15): Show GCCCTCCCACCTTCCCTCTGGAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00733.hp1 others(39): Show HG00280.hp1 HG00642.hp1 HG00733.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02109.hp1 HG02109.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03239.hp2 HG03453.hp1 HG03579.hp1 HG03942.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0008 others(6): Show a0001 a0006 a0008 a0012 a0013 a0015 a0020 a0026 a0033	a0001c0004 a0001c0006 a0001c0007 others(20): Show a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0017 a0001c0019 a0001c0054 a0001c0062 a0001c0069 a0001c0073 a0001c0080 a0001c0087 a0006c0026 a0006c0028 a0006c0072 a0008c0018 a0008c0101 a0012c0065 a0013c0102 a0015c0029 a0020c0094 a0026c0044 a0033c0077	a0001c0004t0001 a0001c0004t0016 a0001c0006t0003 others(23): Show a0001c0004t0001 a0001c0004t0016 a0001c0006t0003 a0001c0007t0002 a0001c0011t0001 a0001c0017t0002 a0001c0017t0003 a0001c0019t0003 a0001c0054t0002 a0001c0062t0002 a0001c0069t0005 a0001c0073t0003 a0001c0080t0004 a0001c0087t0001 a0006c0026t0001 a0006c0026t0003 a0006c0028t0003 a0006c0072t0002 a0008c0018t0005 a0008c0101t0005 a0012c0065t0002 a0013c0102t0004 a0015c0029t0003 a0020c0094t0011 a0026c0044t0001 a0033c0077t0003	a0001c0004t0001g0018 a0001c0004t0016g0051 a0001c0006t0003g0079 others(39): Show a0001c0004t0001g0018 a0001c0004t0016g0051 a0001c0006t0003g0079 a0001c0006t0003g0177 a0001c0006t0003g0180 a0001c0006t0003g0204 a0001c0006t0003g0215 a0001c0006t0003g0259 a0001c0006t0003g0291 a0001c0007t0002g0078 a0001c0011t0001g0009 a0001c0011t0001g0016 a0001c0011t0001g0017 a0001c0011t0001g0050 a0001c0017t0002g0179 a0001c0017t0003g0205 a0001c0017t0003g0284 a0001c0019t0003g0065 a0001c0019t0003g0139 a0001c0019t0003g0170 a0001c0054t0002g0201 a0001c0062t0002g0097 a0001c0069t0005g0038 a0001c0073t0003g0034 a0001c0080t0004g0057 a0001c0087t0001g0055 a0006c0026t0001g0083 a0006c0026t0003g0219 a0006c0028t0003g0059 a0006c0028t0003g0230 a0006c0072t0002g0082 a0008c0018t0005g0067 a0008c0018t0005g0130 a0008c0018t0005g0132 a0008c0101t0005g0027 a0012c0065t0002g0096 a0013c0102t0004g0196 a0015c0029t0003g0226 a0015c0029t0003g0227 a0020c0094t0011g0075 a0026c0044t0001g0037 a0033c0077t0003g0098	42	292	0.1438	-22	c.321 others(39): Show c.3217-791_3217-770delACCCTCCCACCTTCCCTCTGGA	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	37/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45506770	ACCCTCCC others(15): Show ACCCTCCCACCTTCCCTCTGGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp1 others(6): Show HG00140.hp1 HG00140.hp2 HG00639.hp1 HG01496.hp2 HG01978.hp1 HG02004.hp1 HG02273.hp2 HG02922.hp1 NA18999.hp2	a0001 a0004 a0032 a0001 a0004 a0032	a0001c0002 a0001c0005 a0001c0008 others(2): Show a0001c0002 a0001c0005 a0001c0008 a0004c0099 a0032c0052	a0001c0002t0002 a0001c0005t0002 a0001c0008t0002 others(2): Show a0001c0002t0002 a0001c0005t0002 a0001c0008t0002 a0004c0099t0003 a0032c0052t0002	a0001c0002t0002g0023 a0001c0002t0002g0236 a0001c0005t0002g0239 others(6): Show a0001c0002t0002g0023 a0001c0002t0002g0236 a0001c0005t0002g0239 a0001c0008t0002g0240 a0001c0008t0002g0268 a0001c0008t0002g0270 a0001c0008t0002g0272 a0004c0099t0003g0030 a0032c0052t0002g0077	9	292	0.0308	-22	c.321 others(39): Show c.3217-772_3217-751delGGAGCCCTCCCACCTTCCCTCT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	37/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921646	ATAGATTC others(15): Show ATAGATTCGTATATATTCGTATG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG00741.hp2 others(34): Show HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01884.hp2 HG01952.hp2 HG02074.hp1 HG02165.hp1 HG02257.hp1 HG02451.hp1 HG02572.hp2 HG02683.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03540.hp2 HG04199.hp2 HG04228.hp1 NA18942.hp1 NA18949.hp2 NA18962.hp2 NA18964.hp2 NA18979.hp2 NA18991.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19072.hp1 NA19077.hp2 NA19082.hp1 NA19084.hp2 NA20300.hp1 NA20905.hp1	a0002 a0005 a0010 a0002 a0005 a0010	a0002c0003 a0002c0004 a0002c0006 others(4): Show a0002c0003 a0002c0004 a0002c0006 a0002c0009 a0002c0011 a0005c0013 a0010c0021	a0002c0003t0002 a0002c0003t0012 a0002c0003t0021 others(14): Show a0002c0003t0002 a0002c0003t0012 a0002c0003t0021 a0002c0003t0031 a0002c0003t0034 a0002c0004t0001 a0002c0004t0002 a0002c0004t0008 a0002c0004t0009 a0002c0004t0011 a0002c0006t0003 a0002c0006t0007 a0002c0006t0036 a0002c0009t0004 a0002c0011t0005 a0005c0013t0002 a0010c0021t0001	a0002c0003t0002g0018 a0002c0003t0002g0020 a0002c0003t0002g0026 others(34): Show a0002c0003t0002g0018 a0002c0003t0002g0020 a0002c0003t0002g0026 a0002c0003t0002g0032 a0002c0003t0002g0040 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0049 a0002c0003t0012g0164 a0002c0003t0021g0015 a0002c0003t0031g0075 a0002c0003t0034g0041 a0002c0004t0001g0036 a0002c0004t0001g0048 a0002c0004t0001g0124 a0002c0004t0002g0033 a0002c0004t0008g0038 a0002c0004t0009g0070 a0002c0004t0011g0039 a0002c0006t0003g0029 a0002c0006t0003g0030 a0002c0006t0003g0034 a0002c0006t0003g0035 a0002c0006t0003g0065 a0002c0006t0003g0066 a0002c0006t0007g0019 a0002c0006t0007g0085 a0002c0006t0036g0017 a0002c0009t0004g0031 a0002c0009t0004g0037 a0002c0009t0004g0168 a0002c0009t0004g0176 a0002c0011t0005g0021 a0002c0011t0005g0076 a0005c0013t0002g0046 a0010c0021t0001g0052	37	182	0.2033	-22	c.267 others(39): Show c.267-6183_267-6162delATTCGTATGTAGATTCGTATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL20A1_chr20_63288186_63339806	63326921	CAGGGACT others(15): Show CAGGGACTTCCTACTGACCACCT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0168 a0001c0001t0005g0168	1	290	0.0035	-22	c.352 others(39): Show c.3528+110_3528+131delACTGACCACCTAGGGACTTCCT	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	31/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL21A1_chr6_56051590_56252580	56121569	TATATGTA others(15): Show TATATGTATATGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03540.hp2 HG02451.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0107 a0001c0002t0001g0105 a0001c0001t0001g0107 a0001c0002t0001g0105	2	264	0.0076	-22	c.175 others(41): Show c.1758+2471_1758+2492delGTATATATATACATATACATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	16/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56159972	GACTGGTC others(15): Show GACTGGTCAACAGTCTTTATGAC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	264	0.0038	-22	c.137 others(41): Show c.1372-3045_1372-3024delGTCATAAAGACTGTTGACCAGT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	9/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56206693	AATAAATA others(15): Show AATAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00735.hp1 others(31): Show HG00544.hp2 HG00597.hp1 HG00735.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01884.hp2 HG02257.hp1 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG03017.hp1 HG03098.hp1 HG03471.hp2 HG03491.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18941.hp2 NA18943.hp1 NA18952.hp2 NA18975.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19043.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0008 a0006c0011 a0001c0001 a0002c0008 a0006c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0002c0008t0001 a0002c0008t0003 a0002c0008t0006 a0006c0011t0004	a0001c0001t0001g0137 a0001c0001t0003g0062 a0001c0001t0005g0096 others(31): Show a0001c0001t0001g0137 a0001c0001t0003g0062 a0001c0001t0005g0096 a0001c0001t0005g0135 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0178 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0231 a0001c0001t0005g0233 a0001c0001t0005g0235 a0001c0001t0005g0258 a0001c0001t0006g0019 a0001c0001t0008g0042 a0001c0001t0008g0054 a0001c0001t0008g0058 a0001c0001t0008g0059 a0001c0001t0008g0061 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0034 a0001c0001t0009g0039 a0001c0001t0011g0025 a0001c0001t0012g0002 a0001c0001t0012g0003 a0002c0008t0001g0100 a0002c0008t0003g0060 a0002c0008t0006g0021 a0006c0011t0004g0091	34	264	0.1288	-22	c.-38 others(41): Show c.-38-24059_-38-24038delATATATATATATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	1/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178311487	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp2 others(82): Show HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18943.hp1 NA18951.hp1 NA18955.hp2 NA18964.hp1 NA18971.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19063.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0010	a0001c0001 a0001c0004 a0002c0002 others(9): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0009 a0002c0022 a0003c0005 a0003c0007 a0004c0006 a0004c0011 a0005c0008 a0010c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0002c0002t0001 a0002c0002t0010 a0002c0002t0011 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0009t0008 a0002c0022t0009 a0003c0005t0003 a0003c0007t0001 a0004c0006t0003 a0004c0006t0004 a0004c0011t0001 a0005c0008t0002 a0010c0017t0003	a0001c0001t0001g0002 a0001c0001t0001g0199 a0001c0001t0002g0056 others(82): Show a0001c0001t0001g0002 a0001c0001t0001g0199 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0083 a0001c0001t0002g0153 a0001c0001t0002g0175 a0001c0001t0002g0189 a0001c0001t0003g0119 a0001c0001t0004g0011 a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0063 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0164 a0001c0001t0004g0174 a0001c0001t0004g0185 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0009 a0001c0001t0005g0078 a0001c0001t0005g0095 a0001c0001t0005g0107 a0001c0001t0005g0133 a0001c0001t0005g0207 a0001c0001t0005g0216 a0001c0001t0005g0222 a0001c0001t0014g0224 a0001c0004t0001g0042 a0001c0004t0001g0070 a0001c0004t0001g0094 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0002g0120 a0001c0004t0005g0059 a0001c0004t0005g0060 a0002c0002t0001g0014 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0052 a0002c0002t0001g0075 a0002c0002t0001g0104 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0010g0228 a0002c0002t0011g0038 a0002c0003t0001g0152 a0002c0003t0002g0089 a0002c0003t0002g0206 a0002c0003t0003g0088 a0002c0003t0003g0169 a0002c0003t0003g0195 a0002c0003t0004g0099 a0002c0003t0004g0100 a0002c0003t0004g0205 a0002c0003t0004g0221 a0002c0003t0005g0068 a0002c0003t0006g0229 a0002c0009t0008g0235 a0002c0022t0009g0233 a0003c0005t0003g0010 a0003c0005t0003g0127 a0003c0005t0003g0145 a0003c0005t0003g0156 a0003c0005t0003g0217 a0003c0007t0001g0012 a0003c0007t0001g0137 a0004c0006t0003g0167 a0004c0006t0003g0172 a0004c0006t0004g0135 a0004c0006t0004g0136 a0004c0011t0001g0093 a0005c0008t0002g0050 a0010c0017t0003g0018	85	236	0.3602	-22	c.362 others(39): Show c.362-4590_362-4569delGCGCACACACACACACACACAC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178498205	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00639.hp1 others(62): Show HG00558.hp1 HG00621.hp1 HG00639.hp1 HG01167.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03831.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18945.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18964.hp1 NA18973.hp1 NA18975.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0013	a0001c0001 a0001c0004 a0002c0002 others(7): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0003c0005 a0003c0007 a0004c0006 a0005c0008 a0005c0015 a0013c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0004 a0002c0002t0001 a0002c0002t0002 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0003c0005t0003 a0003c0007t0001 a0004c0006t0003 a0005c0008t0002 a0005c0015t0002 a0013c0010t0002	a0001c0001t0001g0076 a0001c0001t0002g0049 a0001c0001t0002g0079 others(62): Show a0001c0001t0001g0076 a0001c0001t0002g0049 a0001c0001t0002g0079 a0001c0001t0002g0150 a0001c0001t0002g0202 a0001c0001t0003g0159 a0001c0001t0003g0194 a0001c0001t0004g0029 a0001c0001t0004g0037 a0001c0001t0004g0041 a0001c0001t0004g0054 a0001c0001t0004g0071 a0001c0001t0004g0084 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0164 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0190 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0200 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0072 a0001c0001t0005g0078 a0001c0001t0005g0133 a0001c0001t0005g0147 a0001c0001t0005g0207 a0001c0001t0005g0222 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0230 a0001c0004t0004g0110 a0001c0004t0004g0223 a0002c0002t0001g0032 a0002c0002t0001g0045 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0086 a0002c0002t0001g0176 a0002c0002t0001g0181 a0002c0002t0002g0149 a0002c0003t0002g0089 a0002c0003t0002g0206 a0002c0003t0003g0088 a0002c0003t0003g0126 a0002c0003t0003g0169 a0002c0003t0003g0195 a0002c0003t0004g0192 a0002c0003t0004g0221 a0002c0003t0005g0068 a0002c0003t0005g0092 a0003c0005t0003g0127 a0003c0005t0003g0220 a0003c0007t0001g0044 a0004c0006t0003g0130 a0004c0006t0003g0167 a0005c0008t0002g0053 a0005c0008t0002g0090 a0005c0008t0002g0091 a0005c0008t0002g0187 a0005c0015t0002g0017 a0013c0010t0002g0117	65	236	0.2754	-22	c.361 others(41): Show c.361+62455_361+62476delATATATATATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85875716	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG00642.hp2 others(21): Show HG00423.hp1 HG00639.hp2 HG00642.hp2 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01169.hp2 HG01243.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02165.hp1 HG02273.hp2 HG03654.hp2 HG03710.hp2 NA18961.hp2 NA18984.hp2 NA18992.hp1 NA19064.hp1 NA19065.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0012 a0021 a0026 a0033 a0047	a0001c0001 a0002c0003 a0003c0007 others(9): Show a0001c0001 a0002c0003 a0003c0007 a0004c0002 a0005c0004 a0008c0006 a0010c0009 a0012c0012 a0021c0029 a0026c0036 a0033c0045 a0047c0073	a0001c0001t0002 a0002c0003t0002 a0003c0007t0001 others(12): Show a0001c0001t0002 a0002c0003t0002 a0003c0007t0001 a0003c0007t0002 a0003c0007t0003 a0004c0002t0002 a0005c0004t0001 a0005c0004t0002 a0008c0006t0002 a0010c0009t0001 a0012c0012t0001 a0021c0029t0001 a0026c0036t0001 a0033c0045t0005 a0047c0073t0002	a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0205 others(21): Show a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0205 a0002c0003t0002g0145 a0003c0007t0001g0075 a0003c0007t0002g0079 a0003c0007t0002g0080 a0003c0007t0002g0085 a0003c0007t0003g0074 a0004c0002t0002g0140 a0005c0004t0001g0039 a0005c0004t0001g0040 a0005c0004t0002g0041 a0005c0004t0002g0182 a0005c0004t0002g0185 a0008c0006t0002g0047 a0010c0009t0001g0031 a0010c0009t0001g0044 a0010c0009t0001g0045 a0012c0012t0001g0128 a0021c0029t0001g0087 a0026c0036t0001g0024 a0033c0045t0005g0008 a0047c0073t0002g0177	24	238	0.1008	-22	c.303 others(39): Show c.3031-408_3031-387delGTGTGTGTGTGTGTGTGTGTGT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	33/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	86161102	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCACTCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01891.hp1 HG02559.hp1 others(7): Show HG01169.hp1 HG01891.hp1 HG02559.hp1 HG02630.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp1 HG03225.hp2 HG03579.hp1 NA18906.hp2	a0003 a0004 a0013 others(3): Show a0003 a0004 a0013 a0032 a0034 a0036	a0003c0027 a0004c0002 a0013c0018 others(3): Show a0003c0027 a0004c0002 a0013c0018 a0032c0064 a0034c0053 a0036c0055	a0003c0027t0008 a0004c0002t0007 a0013c0018t0004 others(3): Show a0003c0027t0008 a0004c0002t0007 a0013c0018t0004 a0032c0064t0003 a0034c0053t0009 a0036c0055t0009	a0003c0027t0008g0064 a0004c0002t0007g0001 a0004c0002t0007g0002 others(7): Show a0003c0027t0008g0064 a0004c0002t0007g0001 a0004c0002t0007g0002 a0004c0002t0007g0004 a0013c0018t0004g0061 a0013c0018t0004g0062 a0013c0018t0004g0063 a0032c0064t0003g0093 a0034c0053t0009g0006 a0036c0055t0009g0005	10	238	0.0420	-22	c.-47 others(33): Show c.-4728_-4707delTGAGTGAGAGAGAGAGAGAGAG	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding		4331		chr1	TogoVar
COL25A1_chr4_108803725_109307658	108990229	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0034 a0003c0008t0003g0034	1	130	0.0077	-22	c.439 others(41): Show c.439-15692_439-15671delATATATATATATTTTTTTTTTT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	6/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109265518	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0107 a0001c0003t0001g0107	1	130	0.0077	-22	c.367 others(41): Show c.367+35043_367+35064delACACACACACACACACACACAC	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101366496	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01167.hp2 HG02451.hp2 others(5): Show HG00673.hp2 HG01167.hp2 HG02451.hp2 HG02897.hp2 HG03017.hp1 HG03041.hp2 NA19060.hp1 NA19081.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0005 a0002c0003 others(2): Show a0001c0001 a0001c0005 a0002c0003 a0003c0010 a0007c0019	a0001c0001t0002 a0001c0005t0002 a0001c0005t0029 others(3): Show a0001c0001t0002 a0001c0005t0002 a0001c0005t0029 a0002c0003t0001 a0003c0010t0005 a0007c0019t0028	a0001c0001t0002g0093 a0001c0005t0002g0118 a0001c0005t0029g0092 others(5): Show a0001c0001t0002g0093 a0001c0005t0002g0118 a0001c0005t0029g0092 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0102 a0003c0010t0005g0165 a0007c0019t0028g0162	8	174	0.0460	-22	c.158 others(39): Show c.158+3307_158+3328delTTTTTTTTTTTTTTTTTTTTTA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(15): Show TTCATTCTTTCTTTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG01258.hp2 HG01109.hp1 HG01168.hp1 HG01258.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0014 a0001c0002t0003 a0002c0003t0001 a0001c0001t0014 a0001c0002t0003 a0002c0003t0001	a0001c0001t0014g0109 a0001c0002t0003g0040 a0002c0003t0001g0068 a0001c0001t0014g0109 a0001c0002t0003g0040 a0002c0003t0001g0068	3	174	0.0172	-22	c.385 others(41): Show c.385+41926_385+41947delCATTCTTTCTTTCTCTCTCTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101555066	GGGCTGGG others(15): Show GGGCTGGGCAGGATGGGGACAGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02451.hp2 others(2): Show HG02055.hp2 HG02258.hp2 HG02451.hp2 HG02647.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0008 a0001c0001t0011 a0001c0002t0020 others(1): Show a0001c0001t0008 a0001c0001t0011 a0001c0002t0020 a0001c0005t0029	a0001c0001t0008g0115 a0001c0001t0008g0169 a0001c0001t0011g0120 others(2): Show a0001c0001t0008g0115 a0001c0001t0008g0169 a0001c0001t0011g0120 a0001c0002t0020g0001 a0001c0005t0029g0092	5	174	0.0287	-22	c.108 others(39): Show c.1081-716_1081-695delGGGCAGGATGGGGACAGTGGCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7400975	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0102 a0001c0007t0003g0102	1	196	0.0051	-22	c.213 others(43): Show c.2136+16862_2136+16883delACACACACACACACACACACAC	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	27/34			chr7	TogoVar
COL28A1_chr7_7352875_7540873	7429425	CTCACATA others(15): Show CTCACATACACACACACTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00733.hp2 others(23): Show HG00423.hp1 HG00438.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01109.hp2 HG01167.hp1 HG02004.hp1 HG02056.hp1 HG02109.hp1 HG02615.hp2 HG02622.hp2 HG02965.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03834.hp2 NA18522.hp2 NA18612.hp1 NA18957.hp1 NA18960.hp2 NA18969.hp1 NA19058.hp1 NA19067.hp2 NA19084.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0009 a0017 a0024 a0025	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0006c0030 a0009c0014 a0009c0029 a0017c0020 a0024c0045 a0025c0046	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(9): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0006c0030t0003 a0009c0014t0001 a0009c0029t0003 a0017c0020t0001 a0024c0045t0001 a0025c0046t0001	a0001c0001t0001g0157 a0001c0001t0001g0158 a0002c0002t0001g0126 others(23): Show a0001c0001t0001g0157 a0001c0001t0001g0158 a0002c0002t0001g0126 a0002c0002t0002g0139 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0002g0159 a0003c0003t0004g0193 a0003c0003t0004g0194 a0003c0003t0004g0195 a0003c0003t0004g0196 a0006c0030t0003g0065 a0009c0014t0001g0010 a0009c0029t0003g0009 a0017c0020t0001g0086 a0024c0045t0001g0087 a0025c0046t0001g0142	26	196	0.1327	-22	c.199 others(41): Show c.1998+3026_1998+3047delAAGAGAGTGTGTGTGTATGTGA	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	25/34			chr7	TogoVar
COL2A1_chr12_47967967_48009476	48008115	GAGAGAGA others(15): Show GAGAGAGAGAAAGAAAGAAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00673.hp1 others(21): Show HG00099.hp2 HG00544.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01175.hp2 HG01261.hp2 HG01496.hp1 HG01928.hp2 HG02071.hp2 HG02486.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG03490.hp2 HG03492.hp2 NA18957.hp1 NA18962.hp1 NA19054.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0004c0007 a0004c0049	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0004c0007t0001 a0004c0049t0001	a0001c0002t0001g0055 a0001c0002t0001g0250 a0001c0003t0001g0006 others(18): Show a0001c0002t0001g0055 a0001c0002t0001g0250 a0001c0003t0001g0006 a0001c0003t0001g0025 a0001c0003t0001g0133 a0001c0003t0001g0184 a0001c0003t0001g0236 a0001c0003t0001g0239 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0253 a0001c0003t0001g0267 a0001c0004t0001g0012 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0234 a0001c0004t0001g0251 a0001c0004t0001g0266 a0004c0007t0001g0024 a0004c0007t0001g0054 a0004c0049t0001g0261	24	414	0.0580	-22	c.-38 others(33): Show c.-3816_-3795delTCCTTTCTTTCTTTCTCTCTCT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3640		chr12	TogoVar
COL3A1_chr2_188969373_189017746	189007096	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	376	0.0027	-22	c.325 others(39): Show c.3255+129_3255+150delATATATATATATATATATATAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	44/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A1_chr13_110143963_110312157	110219836	GTATATAT others(15): Show GTATATATGTGTATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00621.hp2 others(38): Show HG00140.hp1 HG00544.hp2 HG00621.hp2 HG01069.hp2 HG01106.hp1 HG01496.hp1 HG01952.hp1 HG02015.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03453.hp2 NA18522.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18992.hp2 NA18993.hp2 NA19000.hp1 NA19007.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19079.hp2 NA19087.hp1 NA19091.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0010	a0001c0001 a0001c0003 a0001c0006 others(23): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0016 a0001c0020 a0001c0032 a0001c0065 a0001c0076 a0002c0004 a0002c0011 a0002c0015 a0002c0024 a0002c0026 a0002c0031 a0003c0009 a0003c0012 a0003c0041 a0003c0111 a0004c0005 a0004c0017 a0004c0021 a0004c0070 a0006c0042 a0010c0095	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(26): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0001c0016t0003 a0001c0020t0005 a0001c0032t0001 a0001c0065t0001 a0001c0076t0003 a0002c0004t0001 a0002c0011t0001 a0002c0015t0002 a0002c0024t0002 a0002c0026t0004 a0002c0031t0001 a0003c0009t0001 a0003c0009t0002 a0003c0012t0001 a0003c0012t0002 a0003c0041t0002 a0003c0111t0001 a0004c0005t0001 a0004c0017t0001 a0004c0021t0001 a0004c0070t0001 a0006c0042t0002 a0010c0095t0002	a0001c0001t0001g0026 a0001c0001t0001g0072 a0001c0001t0001g0128 others(38): Show a0001c0001t0001g0026 a0001c0001t0001g0072 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0005g0041 a0001c0003t0001g0092 a0001c0003t0001g0119 a0001c0003t0001g0159 a0001c0006t0001g0008 a0001c0007t0001g0034 a0001c0007t0001g0065 a0001c0010t0001g0052 a0001c0016t0003g0109 a0001c0016t0003g0110 a0001c0016t0003g0111 a0001c0020t0005g0123 a0001c0032t0001g0083 a0001c0032t0001g0108 a0001c0065t0001g0023 a0001c0076t0003g0078 a0002c0004t0001g0214 a0002c0011t0001g0184 a0002c0015t0002g0317 a0002c0024t0002g0281 a0002c0026t0004g0266 a0002c0031t0001g0194 a0003c0009t0001g0203 a0003c0009t0001g0205 a0003c0009t0002g0334 a0003c0012t0001g0202 a0003c0012t0002g0316 a0003c0041t0002g0303 a0003c0111t0001g0218 a0004c0005t0001g0033 a0004c0005t0001g0077 a0004c0005t0001g0144 a0004c0017t0001g0010 a0004c0021t0001g0028 a0004c0070t0001g0036 a0006c0042t0002g0280 a0010c0095t0002g0283	41	344	0.1192	-22	c.145 others(39): Show c.145-5843_145-5822delTACATATATATACACATATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110219848	ATATATAT others(15): Show ATATATATGTATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03139.hp2 HG03209.hp2 others(1): Show HG01346.hp2 HG03139.hp2 HG03209.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0033 a0001c0051 a0002c0004 a0001c0033 a0001c0051 a0002c0004	a0001c0033t0001 a0001c0051t0001 a0002c0004t0001 a0001c0033t0001 a0001c0051t0001 a0002c0004t0001	a0001c0033t0001g0098 a0001c0033t0001g0099 a0001c0051t0001g0114 others(1): Show a0001c0033t0001g0098 a0001c0033t0001g0099 a0001c0051t0001g0114 a0002c0004t0001g0182	4	344	0.0116	-22	c.145 others(39): Show c.145-5855_145-5834delCACACACATATATACATATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203467	ATATATGT others(15): Show ATATATGTGTATACATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	344	0.0029	-22	c.88- others(39): Show c.88-34488_88-34467delCATATGTGTGTATATGTGTATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227102905	AAAGCAAT others(15): Show AAAGCAATATTTCAGCAATAGGG	A A	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	284	0.0035	-22	c.871 others(35): Show c.871-79_871-58delCCCTATTGCTGAAATATTGCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	14/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108526652	CTTTCTTT others(15): Show CTTTCTTTCTTCTTTCTTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp2 HG02897.hp1 others(2): Show HG01106.hp1 HG01884.hp2 HG02897.hp1 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0242 a0001c0003t0001g0063 a0001c0003t0001g0211 others(2): Show a0001c0001t0001g0242 a0001c0003t0001g0063 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213	5	269	0.0186	-22	c.82- others(39): Show c.82-13091_82-13070delTCTTTCTTCTTTCTTTCTCTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526656	CTTTCTTC others(15): Show CTTTCTTCTTTCTTTCTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03927.hp1 NA19030.hp2 HG02965.hp1 HG03927.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0001 a0001c0001t0009 a0001c0003t0001	a0001c0001t0009g0210 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0001t0009g0210 a0001c0003t0001g0214 a0001c0003t0001g0215	3	269	0.0112	-22	c.82- others(39): Show c.82-13087_82-13066delTCTTCTTTCTTTCTCTTTCTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A1_chr9_134636803_134849843	134679701	GGGGGCAC others(15): Show GGGGGCACTGCAGAGCTGGTTAC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp1 NA19030.hp2 HG03130.hp1 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0039 a0001c0001 a0001c0004 a0001c0039	a0001c0001t0007 a0001c0004t0004 a0001c0039t0004 a0001c0001t0007 a0001c0004t0004 a0001c0039t0004	a0001c0001t0007g0248 a0001c0004t0004g0224 a0001c0039t0004g0197 a0001c0001t0007g0248 a0001c0004t0004g0224 a0001c0039t0004g0197	3	272	0.0110	-22	c.110 others(41): Show c.110-11201_110-11180delCAGAGCTGGTTACGGGGCACTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849023	TCACACCT others(15): Show TCACACCTCCCAGGGAGCACCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0187 a0001c0003t0008g0187	1	272	0.0037	-22	c.67 others(33): Show c.6721_*6742delCACACCTCCCAGGGAGCACCGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4181		chr9	TogoVar
COL5A2_chr2_189026898_189184761	189088001	GGATAGAA others(15): Show GGATAGAAGGGGTGGTTATCTAT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	248	0.0040	-22	c.645 others(37): Show c.645+672_645+693delATAGATAACCACCCCTTCTATC	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	8/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9977942	CTATACAT others(15): Show CTATACATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 NA18962.hp2 others(2): Show HG02723.hp1 HG02895.hp1 NA18962.hp2 NA18973.hp2 NA18995.hp2	a0003 a0011 a0031 others(1): Show a0003 a0011 a0031 a0044	a0003c0011 a0011c0006 a0031c0043 others(1): Show a0003c0011 a0011c0006 a0031c0043 a0044c0062	a0003c0011t0006 a0011c0006t0006 a0031c0043t0006 others(2): Show a0003c0011t0006 a0011c0006t0006 a0031c0043t0006 a0031c0043t0007 a0044c0062t0003	a0003c0011t0006g0341 a0011c0006t0006g0181 a0031c0043t0006g0055 others(2): Show a0003c0011t0006g0341 a0011c0006t0006g0181 a0031c0043t0006g0055 a0031c0043t0007g0054 a0044c0062t0003g0191	5	412	0.0121	-22	c.301 others(39): Show c.3019-263_3019-242delTATATATATATATATATGTATA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	41/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983572	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0011 a0011	a0011c0006 a0011c0006	a0011c0006t0006 a0011c0006t0006	a0011c0006t0006g0189 a0011c0006t0006g0189	1	412	0.0024	-22	c.240 others(41): Show c.2407-1476_2407-1455delTTCTTTCTTTCTTTCTTTCTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9994559	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02717.hp1 others(6): Show HG02451.hp1 HG02572.hp1 HG02717.hp1 HG02818.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03579.hp2 HG06807.hp1	a0001 a0006 a0007 others(3): Show a0001 a0006 a0007 a0030 a0033 a0043	a0001c0033 a0006c0081 a0006c0082 others(4): Show a0001c0033 a0006c0081 a0006c0082 a0007c0032 a0030c0080 a0033c0042 a0043c0061	a0001c0033t0011 a0006c0081t0001 a0006c0082t0007 others(4): Show a0001c0033t0011 a0006c0081t0001 a0006c0082t0007 a0007c0032t0007 a0030c0080t0015 a0033c0042t0001 a0043c0061t0003	a0001c0033t0011g0154 a0001c0033t0011g0168 a0006c0081t0001g0166 others(6): Show a0001c0033t0011g0154 a0001c0033t0011g0168 a0006c0081t0001g0166 a0006c0082t0007g0169 a0007c0032t0007g0114 a0030c0080t0015g0110 a0033c0042t0001g0115 a0033c0042t0001g0116 a0043c0061t0003g0260	9	412	0.0218	-22	c.158 others(39): Show c.1588-775_1588-754delATATATATATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	16/66			chr19	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0009	a0002c0001t0009g0004 a0002c0001t0009g0004	1	322	0.0031	-22	c.766 others(39): Show c.7668+814_7668+835delTTTTTTTTTTTTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237364793	TTGTGTGT others(15): Show TTGTGTGTGCATGTGTGTGCACG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00639.hp2 others(72): Show HG00438.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01256.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18947.hp1 NA18952.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18970.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18995.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0015 a0017 a0018 a0019 a0020 a0022 a0024 a0025 a0032 a0033 a0035 a0039 a0049 a0050 a0052 a0055	a0001c0004 a0001c0037 a0001c0076 others(34): Show a0001c0004 a0001c0037 a0001c0076 a0001c0130 a0002c0009 a0002c0106 a0002c0108 a0002c0109 a0002c0110 a0003c0005 a0003c0105 a0003c0122 a0004c0003 a0004c0102 a0004c0113 a0004c0119 a0004c0120 a0005c0101 a0005c0111 a0015c0036 a0017c0024 a0018c0020 a0019c0044 a0020c0127 a0020c0129 a0022c0103 a0024c0038 a0025c0114 a0025c0115 a0032c0142 a0033c0141 a0035c0047 a0039c0128 a0049c0104 a0050c0107 a0052c0112 a0055c0116	a0001c0004t0001 a0001c0004t0002 a0001c0037t0001 others(44): Show a0001c0004t0001 a0001c0004t0002 a0001c0037t0001 a0001c0037t0003 a0001c0076t0003 a0001c0130t0002 a0002c0009t0001 a0002c0009t0002 a0002c0009t0003 a0002c0106t0002 a0002c0108t0001 a0002c0109t0002 a0002c0110t0001 a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 a0003c0005t0007 a0003c0105t0001 a0003c0122t0002 a0004c0003t0002 a0004c0003t0003 a0004c0102t0003 a0004c0113t0002 a0004c0119t0002 a0004c0120t0002 a0005c0101t0003 a0005c0111t0003 a0015c0036t0001 a0017c0024t0001 a0018c0020t0001 a0018c0020t0003 a0019c0044t0002 a0019c0044t0004 a0020c0127t0004 a0020c0129t0001 a0022c0103t0001 a0024c0038t0002 a0025c0114t0001 a0025c0115t0004 a0032c0142t0002 a0033c0141t0002 a0035c0047t0002 a0039c0128t0004 a0049c0104t0002 a0050c0107t0002 a0052c0112t0002 a0055c0116t0002	a0001c0004t0001g0153 a0001c0004t0001g0228 a0001c0004t0002g0067 others(71): Show a0001c0004t0001g0153 a0001c0004t0001g0228 a0001c0004t0002g0067 a0001c0004t0002g0220 a0001c0004t0002g0227 a0001c0004t0002g0229 a0001c0004t0002g0230 a0001c0004t0002g0235 a0001c0004t0002g0296 a0001c0037t0001g0025 a0001c0037t0003g0022 a0001c0076t0003g0219 a0001c0130t0002g0237 a0002c0009t0001g0070 a0002c0009t0001g0079 a0002c0009t0001g0097 a0002c0009t0001g0224 a0002c0009t0002g0223 a0002c0009t0003g0069 a0002c0106t0002g0231 a0002c0108t0001g0310 a0002c0109t0002g0140 a0002c0110t0001g0076 a0003c0005t0001g0018 a0003c0005t0001g0019 a0003c0005t0001g0317 a0003c0005t0002g0077 a0003c0005t0002g0080 a0003c0005t0003g0059 a0003c0005t0003g0060 a0003c0005t0003g0156 a0003c0005t0007g0023 a0003c0105t0001g0073 a0003c0122t0002g0078 a0004c0003t0002g0002 a0004c0003t0002g0208 a0004c0003t0002g0234 a0004c0003t0002g0256 a0004c0003t0003g0065 a0004c0003t0003g0068 a0004c0003t0003g0075 a0004c0003t0003g0091 a0004c0003t0003g0207 a0004c0003t0003g0225 a0004c0102t0003g0028 a0004c0113t0002g0226 a0004c0119t0002g0074 a0004c0120t0002g0024 a0005c0101t0003g0238 a0005c0111t0003g0118 a0015c0036t0001g0071 a0015c0036t0001g0154 a0017c0024t0001g0055 a0017c0024t0001g0063 a0018c0020t0001g0307 a0018c0020t0003g0054 a0018c0020t0003g0058 a0019c0044t0002g0066 a0019c0044t0004g0221 a0020c0127t0004g0211 a0020c0129t0001g0137 a0022c0103t0001g0233 a0024c0038t0002g0110 a0024c0038t0002g0111 a0025c0114t0001g0121 a0025c0115t0004g0120 a0032c0142t0002g0232 a0033c0141t0002g0026 a0035c0047t0002g0123 a0039c0128t0004g0010 a0049c0104t0002g0020 a0050c0107t0002g0072 a0052c0112t0002g0143 a0055c0116t0002g0177	75	322	0.2329	-22	c.583 others(39): Show c.5839-387_5839-366delCGTGCACACACATGCACACACA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	12/43			chr2	TogoVar
COL6A6_chr3_130512177_130682042	130590287	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp1 HG03225.hp1 HG03516.hp1	a0007 a0007	a0007c0040 a0007c0040	a0007c0040t0004 a0007c0040t0004	a0007c0040t0004g0234 a0007c0040t0004g0235 a0007c0040t0004g0234 a0007c0040t0004g0235	2	264	0.0076	-22	c.421 others(39): Show c.4219-752_4219-731delATATATATATATTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590293	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18952.hp1 NA19043.hp1 HG02717.hp2 NA18952.hp1 NA19043.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0007 a0004c0004 a0006c0007	a0004c0004t0003 a0006c0007t0001 a0006c0007t0002 a0004c0004t0003 a0006c0007t0001 a0006c0007t0002	a0004c0004t0003g0119 a0006c0007t0001g0194 a0006c0007t0002g0029 a0004c0004t0003g0119 a0006c0007t0001g0194 a0006c0007t0002g0029	3	264	0.0114	-22	c.421 others(39): Show c.4219-746_4219-725delATATATTTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL7A1_chr3_48559073_48600329	48559898	CCACACAC others(15): Show CCACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	236	0.0042	-22	c.44 others(33): Show c.4486_*4507delTGTGTGTGTGTGTGTGTGTGTG	COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding		4174		chr3	TogoVar
COL9A2_chr1_40295489_40322286	40321122	ATTATATA others(15): Show ATTATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	438	0.0023	-22	c.-39 others(33): Show c.-3947_-3926delATATATATATATATATATATAA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321123	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	438	0.0023	-22	c.-39 others(33): Show c.-3948_-3927delTATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3838		chr1	TogoVar

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