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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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
COL14A1_chr8_120120102_120378573	120348173	A A	ATATATAT others(29): Show ATATATATATGAAGCATATATAAAGCATATATATATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01169.hp2 HG01192.hp2 others(12): Show HG01070.hp2 HG01169.hp2 HG01192.hp2 HG02572.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03471.hp2 HG03516.hp1 NA18950.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0013 a0001c0014 others(6): Show a0001c0001 a0001c0013 a0001c0014 a0002c0002 a0002c0037 a0003c0004 a0005c0011 a0005c0030 a0006c0019	a0001c0001t0001 a0001c0001t0002 a0001c0013t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0004 a0001c0014t0004 a0001c0014t0012 a0002c0002t0001 a0002c0037t0011 a0003c0004t0018 a0005c0011t0004 a0005c0030t0004 a0006c0019t0005	a0001c0001t0001g0113 a0001c0001t0002g0032 a0001c0013t0004g0071 others(12): Show a0001c0001t0001g0113 a0001c0001t0002g0032 a0001c0013t0004g0071 a0001c0013t0004g0085 a0001c0014t0004g0009 a0001c0014t0012g0026 a0002c0002t0001g0054 a0002c0002t0001g0218 a0002c0037t0011g0012 a0003c0004t0018g0018 a0005c0011t0004g0039 a0005c0011t0004g0075 a0005c0011t0004g0209 a0005c0030t0004g0139 a0006c0019t0005g0017	15	218	0.0688	36	c.507 others(55): Show c.5077+2718_5077+2753dupGTATATATATGAAGCATATATAAAGC ATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL16A1_chr1_31647263_31709017	31707385	T T	TTTTCTTT others(29): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03098.hp1 HG03491.hp2 HG03017.hp1 HG03098.hp1 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0010 a0002c0002t0002 a0002c0004t0010	a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0004t0010g0043 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0004t0010g0043	3	342	0.0088	36	c.-35 others(47): Show c.-3584_-3583insGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGA AA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3369		chr1	TogoVar
COL17A1_chr10_104026286_104090880	104035821	T T	TGTGTGTA others(29): Show TGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 NA18906.hp2 others(1): Show HG02145.hp2 HG02922.hp1 NA18906.hp2 NA19043.hp2	a0006 a0007 a0030 a0006 a0007 a0030	a0006c0008 a0006c0042 a0007c0035 others(1): Show a0006c0008 a0006c0042 a0007c0035 a0030c0037	a0006c0008t0002 a0006c0042t0002 a0007c0035t0002 others(1): Show a0006c0008t0002 a0006c0042t0002 a0007c0035t0002 a0030c0037t0002	a0006c0008t0002g0258 a0006c0042t0002g0294 a0007c0035t0002g0285 others(1): Show a0006c0008t0002g0258 a0006c0042t0002g0294 a0007c0035t0002g0285 a0030c0037t0002g0284	4	336	0.0119	36	c.341 others(53): Show c.3419-259_3419-258insTCCCATACGCACACTCCGATACACTCCC ATACACAC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL18A1_chr21_45400165_45518720	45435307	G G	GGGGGTGG others(29): Show GGGGGTGGGAAGAGGGAGGAGGAGGAAGGGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02572.hp2 others(3): Show HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02717.hp1 HG02717.hp2 NA21309.hp1	a0011 a0018 a0019 others(1): Show a0011 a0018 a0019 a0020	a0011c0040 a0011c0104 a0018c0095 others(2): Show a0011c0040 a0011c0104 a0018c0095 a0019c0096 a0020c0094	a0011c0040t0001 a0011c0104t0002 a0018c0095t0001 others(2): Show a0011c0040t0001 a0011c0104t0002 a0018c0095t0001 a0019c0096t0015 a0020c0094t0011	a0011c0040t0001g0046 a0011c0040t0001g0076 a0011c0104t0002g0003 others(3): Show a0011c0040t0001g0046 a0011c0040t0001g0076 a0011c0104t0002g0003 a0018c0095t0001g0146 a0019c0096t0015g0045 a0020c0094t0011g0075	6	292	0.0206	36	c.106 others(55): Show c.106+29842_106+29843insAAGAGGGAGGAGGAGGAAGGGGGGGT GTGGGGTGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437463	C C	CACAGGCA others(29): Show CACAGGCACTCTCCTGCACACACTCACACTCACACAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19057.hp1 HG02622.hp2 NA19057.hp1	a0002 a0005 a0002 a0005	a0002c0012 a0005c0058 a0002c0012 a0005c0058	a0002c0012t0004 a0005c0058t0001 a0002c0012t0004 a0005c0058t0001	a0002c0012t0004g0199 a0005c0058t0001g0165 a0002c0012t0004g0199 a0005c0058t0001g0165	2	292	0.0069	36	c.107 others(55): Show c.107-30744_107-30743insGACAGGCACTCTCCTGCACACACTCA CACTCACACA	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437550	A A	ACACACAC others(29): Show ACACACACTCACACTCAGACACACAGGCACTCTCCTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp1 HG03041.hp1 others(1): Show HG02622.hp2 HG02965.hp1 HG03041.hp1 NA19043.hp1	a0002 a0002	a0002c0012 a0002c0020 a0002c0021 a0002c0012 a0002c0020 a0002c0021	a0002c0012t0004 a0002c0020t0003 a0002c0021t0002 a0002c0012t0004 a0002c0020t0003 a0002c0021t0002	a0002c0012t0004g0199 a0002c0020t0003g0156 a0002c0021t0002g0001 others(1): Show a0002c0012t0004g0199 a0002c0020t0003g0156 a0002c0021t0002g0001 a0002c0021t0002g0148	4	292	0.0137	36	c.107 others(55): Show c.107-30685_107-30684insTCACACTCAGACACACAGGCACTCTC CTGCACACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437634	T T	TCACACAG others(29): Show TCACACAGGCACTCTCCTGCACACACACACACTCAGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04184.hp1 HG03654.hp1 HG04184.hp1	a0009 a0025 a0009 a0025	a0009c0016 a0025c0050 a0009c0016 a0025c0050	a0009c0016t0002 a0025c0050t0002 a0009c0016t0002 a0025c0050t0002	a0009c0016t0002g0252 a0025c0050t0002g0108 a0009c0016t0002g0252 a0025c0050t0002g0108	2	292	0.0069	36	c.107 others(55): Show c.107-30576_107-30541dupTCAGACACACAGGCACTCTCCTGCAC ACACACACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45442878	G G	GCTGATGT others(29): Show GCTGATGTGGGTGGCGGTGCTGGTGTGGGCGGAGGTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00609.hp1 others(54): Show HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01891.hp2 HG01981.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02698.hp2 HG02735.hp1 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG03688.hp2 HG03831.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18612.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18966.hp2 NA18977.hp1 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19074.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0010 a0028 a0031	a0001c0001 a0001c0002 a0001c0004 others(15): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0035 a0001c0041 a0001c0063 a0001c0087 a0001c0089 a0001c0090 a0001c0093 a0004c0023 a0004c0091 a0004c0099 a0005c0036 a0010c0014 a0028c0097 a0031c0092	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 others(19): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0016 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0005t0007 a0001c0035t0001 a0001c0041t0001 a0001c0063t0001 a0001c0087t0001 a0001c0089t0001 a0001c0090t0002 a0001c0093t0001 a0004c0023t0002 a0004c0091t0001 a0004c0099t0003 a0005c0036t0001 a0010c0014t0001 a0028c0097t0001 a0031c0092t0011	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 others(54): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0127 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0002t0002g0111 a0001c0002t0002g0137 a0001c0004t0001g0013 a0001c0004t0001g0018 a0001c0004t0001g0022 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0001g0064 a0001c0004t0001g0071 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0174 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0222 a0001c0004t0001g0225 a0001c0004t0001g0267 a0001c0004t0001g0271 a0001c0004t0001g0274 a0001c0004t0001g0290 a0001c0004t0016g0051 a0001c0005t0002g0070 a0001c0005t0002g0217 a0001c0005t0002g0224 a0001c0005t0002g0232 a0001c0005t0002g0239 a0001c0005t0002g0280 a0001c0005t0003g0211 a0001c0005t0006g0173 a0001c0005t0006g0218 a0001c0005t0007g0262 a0001c0005t0007g0263 a0001c0035t0001g0072 a0001c0035t0001g0073 a0001c0041t0001g0155 a0001c0063t0001g0144 a0001c0087t0001g0055 a0001c0089t0001g0119 a0001c0090t0002g0089 a0001c0093t0001g0251 a0004c0023t0002g0138 a0004c0023t0002g0163 a0004c0091t0001g0056 a0004c0099t0003g0030 a0005c0036t0001g0245 a0005c0036t0001g0292 a0010c0014t0001g0265 a0010c0014t0001g0275 a0010c0014t0001g0279 a0028c0097t0001g0036 a0031c0092t0011g0190	57	292	0.1952	36	c.107 others(55): Show c.107-25361_107-25360insATGTGGGTGGCGGTGCTGGTGTGGGC GGAGGTCCTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45443135	C C	CGGCGGTG others(29): Show CGGCGGTGCTGGTGTGGGCGGCGGTCCTGGTGTGGGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03195.hp1 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0062 a0001c0037t0001g0157 a0001c0037t0001g0062 a0001c0037t0001g0157	2	292	0.0069	36	c.107 others(55): Show c.107-25083_107-25082insCCTGGTGTGGGTGGCGGTGCTGGTGT GGGCGGCGGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500879	T T	TGTGTGTG others(29): Show TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0080 a0001c0080	a0001c0080t0004 a0001c0080t0004	a0001c0080t0004g0057 a0001c0080t0004g0057	1	292	0.0034	36	c.268 others(55): Show c.2684-3101_2684-3100insGTTTGGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501012	G G	GAGTGTGG others(29): Show GAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02280.hp1 others(3): Show HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02717.hp2 NA21309.hp1	a0001 a0011 a0018 others(1): Show a0001 a0011 a0018 a0019	a0001c0041 a0011c0040 a0011c0104 others(2): Show a0001c0041 a0011c0040 a0011c0104 a0018c0095 a0019c0096	a0001c0041t0001 a0011c0040t0001 a0011c0104t0002 others(2): Show a0001c0041t0001 a0011c0040t0001 a0011c0104t0002 a0018c0095t0001 a0019c0096t0015	a0001c0041t0001g0155 a0011c0040t0001g0046 a0011c0040t0001g0076 others(3): Show a0001c0041t0001g0155 a0011c0040t0001g0046 a0011c0040t0001g0076 a0011c0104t0002g0003 a0018c0095t0001g0146 a0019c0096t0015g0045	6	292	0.0206	36	c.268 others(55): Show c.2684-2972_2684-2971insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098598	T T	TATATAAA others(29): Show TATATAAATATATAAATATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02257.hp1 HG02486.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0006 a0002c0008t0001 a0002c0008t0006	a0002c0008t0001g0100 a0002c0008t0006g0021 a0002c0008t0001g0100 a0002c0008t0006g0021	2	264	0.0076	36	c.181 others(55): Show c.1812+2873_1812+2874insTTATATATATTTATATATATATTTAT ATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098664	T T	TATAAATA others(29): Show TATAAATATATATATATAAATATATATAAATATATAA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	264	0.0038	36	c.181 others(55): Show c.1812+2807_1812+2808insTTATATATTTATATATATTTATATAT ATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098700	T T	TATATGTA others(29): Show TATATGTAAATATATAAATATATAGATATATATATAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18971.hp2 NA18981.hp2 others(1): Show HG00099.hp1 NA18971.hp2 NA18981.hp2 NA19005.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0014 a0003c0005t0007 a0003c0005t0014	a0003c0005t0007g0119 a0003c0005t0007g0122 a0003c0005t0007g0202 others(1): Show a0003c0005t0007g0119 a0003c0005t0007g0122 a0003c0005t0007g0202 a0003c0005t0014g0035	4	264	0.0152	36	c.181 others(55): Show c.1812+2771_1812+2772insTTATATATATATCTATATATTTATAT ATTTACATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138643647	T T	TAGATAGA others(29): Show TAGATAGATAGACAGACAGACAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0059 a0001c0012t0002g0059	1	158	0.0063	36	c.350 others(55): Show c.3501+2981_3501+2982insGTCTGTCTGTCTGTCTGTCTGTCTGT CTATCTATCT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	47/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138676454	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00741.hp2 HG01167.hp2 others(10): Show HG00597.hp1 HG00741.hp2 HG01167.hp2 HG01255.hp2 HG01261.hp2 HG02258.hp1 HG02615.hp2 HG02738.hp1 HG02886.hp2 HG06807.hp1 NA19060.hp2 NA19066.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0016 a0001c0018 a0002c0005 a0003c0013 a0015c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0005 a0001c0006t0001 a0001c0016t0001 a0001c0018t0001 a0002c0005t0003 a0003c0013t0001 a0015c0039t0001	a0001c0001t0001g0050 a0001c0001t0001g0082 a0001c0001t0001g0129 others(10): Show a0001c0001t0001g0050 a0001c0001t0001g0082 a0001c0001t0001g0129 a0001c0001t0002g0017 a0001c0001t0003g0003 a0001c0001t0006g0114 a0001c0002t0005g0141 a0001c0006t0001g0062 a0001c0016t0001g0063 a0001c0018t0001g0075 a0002c0005t0003g0005 a0003c0013t0001g0125 a0015c0039t0001g0134	13	158	0.0823	36	c.315 others(53): Show c.3150+103_3150+104insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	41/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138741956	G G	GTGATGGT others(29): Show GTGATGGTGATGGTAGAGTTGATGGTGATGGTGGAGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0133 a0001c0008t0002g0133	1	158	0.0063	36	c.208 others(55): Show c.2086-4380_2086-4379insACTCCACCATCACCATCAACTCTACC ATCACCATCA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	22/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03654.hp2 HG02486.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0031 a0002c0002t0001g0019 a0002c0002t0001g0031	2	236	0.0085	36	c.730 others(51): Show c.730-696_730-695insGTGTATATATATATATATATATATATATAT ATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03704.hp2 NA19005.hp2 HG02055.hp1 HG03704.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0002t0002 a0002c0003t0006 a0002c0002t0001 a0002c0002t0002 a0002c0003t0006	a0002c0002t0001g0014 a0002c0002t0002g0149 a0002c0003t0006g0229 a0002c0002t0001g0014 a0002c0002t0002g0149 a0002c0003t0006g0229	3	236	0.0127	36	c.730 others(51): Show c.730-696_730-695insGTATATATATATATATATATATATATATAT ATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178269458	T T	TCCATCCA others(29): Show TCCATCCACCCGTCCATCCACCCACCCACCCATCCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03017.hp1 HG03209.hp1 HG00408.hp1 HG03017.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0003 a0001c0001t0004 a0002c0009t0008 a0001c0001t0003 a0001c0001t0004 a0002c0009t0008	a0001c0001t0003g0194 a0001c0001t0004g0021 a0002c0009t0008g0235 a0001c0001t0003g0194 a0001c0001t0004g0021 a0002c0009t0008g0235	3	236	0.0127	36	c.469 others(51): Show c.469-703_469-702insGTGGATGGGTGGGTGGGTGGATGGACGGGT GGATGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	6/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178302457	C C	CGGAGCAC others(29): Show CGGAGCACGGCTTCAATGCTGCACCTGTGTGTGTGCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp2 HG03098.hp1 HG02486.hp1 HG02922.hp2 HG03098.hp1	a0007 a0008 a0011 a0007 a0008 a0011	a0007c0019 a0008c0018 a0011c0013 a0007c0019 a0008c0018 a0011c0013	a0007c0019t0005 a0008c0018t0003 a0011c0013t0005 a0007c0019t0005 a0008c0018t0003 a0011c0013t0005	a0007c0019t0005g0160 a0008c0018t0003g0215 a0011c0013t0005g0132 a0007c0019t0005g0160 a0008c0018t0003g0215 a0011c0013t0005g0132	3	236	0.0127	36	c.406 others(53): Show c.406+4417_406+4418insAGCACACACACAGGTGCAGCATTGAAGC CGTGCTCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178523201	T T	TACACATA others(29): Show TACACATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0200 a0001c0001t0004g0200	1	236	0.0042	36	c.361 others(55): Show c.361+37480_361+37481insCTCTCTCTCTATATATATATATATAT ATATATGTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAAAAA others(29): Show AAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01243.hp1 HG02083.hp2 others(6): Show HG01169.hp2 HG01243.hp1 HG02083.hp2 HG02615.hp1 HG03579.hp2 NA18906.hp2 NA18978.hp1 NA18981.hp1 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0013 a0014	a0001c0001 a0002c0003 a0003c0016 others(4): Show a0001c0001 a0002c0003 a0003c0016 a0003c0019 a0004c0002 a0013c0018 a0014c0020	a0001c0001t0002 a0002c0003t0002 a0003c0016t0006 others(5): Show a0001c0001t0002 a0002c0003t0002 a0003c0016t0006 a0003c0019t0003 a0004c0002t0002 a0004c0002t0004 a0013c0018t0004 a0014c0020t0002	a0001c0001t0002g0158 a0002c0003t0002g0145 a0003c0016t0006g0013 others(6): Show a0001c0001t0002g0158 a0002c0003t0002g0145 a0003c0016t0006g0013 a0003c0019t0003g0067 a0004c0002t0002g0140 a0004c0002t0002g0183 a0004c0002t0004g0215 a0013c0018t0004g0063 a0014c0020t0002g0173	9	238	0.0378	36	c.395 others(57): Show c.3952-12751_3952-12750insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0131 a0002c0003t0004g0131	1	238	0.0042	36	c.395 others(57): Show c.3952-12786_3952-12751dupCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85858621	C C	CTCCTTCC others(29): Show CTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18974.hp1 HG03579.hp2 NA18974.hp1	a0014 a0027 a0014 a0027	a0014c0020 a0027c0035 a0014c0020 a0027c0035	a0014c0020t0002 a0027c0035t0015 a0014c0020t0002 a0027c0035t0015	a0014c0020t0002g0173 a0027c0035t0015g0029 a0014c0020t0002g0173 a0027c0035t0015g0029	2	238	0.0084	36	c.330 others(55): Show c.3301-9216_3301-9215insAGGAAGGAAGGAAGGAAAGAAGGAAG GAAGGAAGGA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	37/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997055	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0024 a0024	a0024c0026 a0024c0026	a0024c0026t0001 a0024c0026t0001	a0024c0026t0001g0037 a0024c0026t0001g0037	1	238	0.0042	36	c.231 others(55): Show c.2311-9402_2311-9401insTATATATATATATATATATATATATA CACACACACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997055	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0059 a0008c0006t0001g0059	1	238	0.0042	36	c.231 others(55): Show c.2311-9402_2311-9401insTATATATATATATATATATATACACA CACACACACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997055	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG02056.hp2 others(4): Show HG00639.hp2 HG01192.hp1 HG02056.hp2 HG02135.hp2 HG03710.hp1 HG03927.hp2 NA18978.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0001c0005 a0003c0007 others(3): Show a0001c0001 a0001c0005 a0003c0007 a0003c0056 a0006c0028 a0008c0006	a0001c0001t0001 a0001c0005t0001 a0003c0007t0002 others(3): Show a0001c0001t0001 a0001c0005t0001 a0003c0007t0002 a0003c0056t0001 a0006c0028t0002 a0008c0006t0001	a0001c0001t0001g0136 a0001c0005t0001g0184 a0003c0007t0002g0084 others(4): Show a0001c0001t0001g0136 a0001c0005t0001g0184 a0003c0007t0002g0084 a0003c0007t0002g0085 a0003c0056t0001g0089 a0006c0028t0002g0086 a0008c0006t0001g0054	7	238	0.0294	36	c.231 others(55): Show c.2311-9402_2311-9401insTATATATATATATATATATACACACA CACACACACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997055	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01496.hp2 HG02559.hp1 others(2): Show HG01169.hp1 HG01496.hp2 HG02559.hp1 HG03130.hp1 NA18906.hp2	a0001 a0013 a0041 a0001 a0013 a0041	a0001c0001 a0013c0018 a0041c0041 a0001c0001 a0013c0018 a0041c0041	a0001c0001t0002 a0013c0018t0004 a0041c0041t0004 a0001c0001t0002 a0013c0018t0004 a0041c0041t0004	a0001c0001t0002g0161 a0013c0018t0004g0061 a0013c0018t0004g0062 others(2): Show a0001c0001t0002g0161 a0013c0018t0004g0061 a0013c0018t0004g0062 a0013c0018t0004g0063 a0041c0041t0004g0148	5	238	0.0210	36	c.231 others(55): Show c.2311-9402_2311-9401insTATATATATATATATATACACACACA CACACACACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108835861	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0043 a0001c0004t0001g0043	1	130	0.0077	36	c.165 others(55): Show c.1657-3429_1657-3428insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	31/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101385367	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	174	0.0058	36	c.158 others(55): Show c.158+22196_158+22197insATATATATATATATATATATATATAT ATATATATAT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7374038	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0002 a0012c0016t0002	a0012c0016t0002g0016 a0012c0016t0002g0016	1	196	0.0051	36	c.236 others(53): Show c.2360-493_2360-492insATATATATATATATATATATATATTTTT TTTTTTTT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	31/34			chr7	TogoVar
COL4A1_chr13_110143963_110312157	110219848	A A	ATATATGT others(29): Show ATATATGTATATATATGTATATATGTATATATGTGTG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0093 a0004c0017t0001g0093	1	344	0.0029	36	c.145 others(53): Show c.145-5834_145-5833insCACACATATATACATATATACATATATA TACATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355580	G G	GTGGGGGG others(29): Show GTGGGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp2 others(6): Show HG00140.hp2 HG00323.hp2 HG00639.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01516.hp2 HG01943.hp2	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0005 a0010 a0011	a0002c0006 a0002c0017 a0003c0010 others(5): Show a0002c0006 a0002c0017 a0003c0010 a0003c0112 a0004c0012 a0005c0020 a0010c0036 a0011c0032	a0002c0006t0005 a0002c0017t0002 a0003c0010t0004 others(5): Show a0002c0006t0005 a0002c0017t0002 a0003c0010t0004 a0003c0112t0006 a0004c0012t0002 a0005c0020t0002 a0010c0036t0021 a0011c0032t0002	a0002c0006t0005g0157 a0002c0017t0002g0316 a0003c0010t0004g0268 others(6): Show a0002c0006t0005g0157 a0002c0017t0002g0316 a0003c0010t0004g0268 a0003c0112t0006g0068 a0004c0012t0002g0277 a0005c0020t0002g0271 a0010c0036t0021g0319 a0010c0036t0021g0320 a0011c0032t0002g0302	9	372	0.0242	36	c.100 others(53): Show c.100-1892_100-1891insTGGGGGGGAGGGCTGTACTAGCTCACCT GTGTGTGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355580	G G	GTGGGGGT others(29): Show GTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGAGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA20752.hp1 HG01175.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0016 a0002c0086 a0001c0016 a0002c0086	a0001c0016t0007 a0002c0086t0002 a0001c0016t0007 a0002c0086t0002	a0001c0016t0007g0219 a0002c0086t0002g0279 a0001c0016t0007g0219 a0002c0086t0002g0279	2	372	0.0054	36	c.100 others(53): Show c.100-1892_100-1891insTGGGGGTGGAGGGCTGTACAGCTCACCT GTGTGAGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355670	C C	CTGTGTGT others(29): Show CTGTGTGTGGGGGTGGAGGGCTGCACTAGCTCACCTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0011 a0011	a0011c0032 a0011c0032	a0011c0032t0003 a0011c0032t0003	a0011c0032t0003g0123 a0011c0032t0003g0123	1	372	0.0027	36	c.100 others(53): Show c.100-1780_100-1779insCACTAGCTCACCTGTGTGTGTGGGGGTG GAGGGCTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509245	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18943.hp1 HG04184.hp1 NA18943.hp1	a0002 a0002	a0002c0006 a0002c0062 a0002c0006 a0002c0062	a0002c0006t0006 a0002c0062t0047 a0002c0006t0006 a0002c0062t0047	a0002c0006t0006g0066 a0002c0062t0047g0298 a0002c0006t0006g0066 a0002c0062t0047g0298	2	372	0.0054	36	c.488 others(55): Show c.4881+1050_4881+1051insTATATATATATATATATATATATATA TATATATATA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202936	T T	TATATATA others(29): Show TATATATACATATATGTGTATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0021 a0003c0011t0021	a0003c0011t0021g0303 a0003c0011t0021g0303	1	344	0.0029	36	c.88- others(53): Show c.88-35026_88-35025insACATATATGTGTATATATACGTATATAT ACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203018	T T	TATATATA others(29): Show TATATATACATATATGTGTATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01433.hp2 NA18954.hp2 HG01167.hp2 HG01433.hp2 NA18954.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0001 a0009c0008t0001 a0001c0001t0001 a0009c0008t0001	a0001c0001t0001g0219 a0001c0001t0001g0284 a0009c0008t0001g0077 a0001c0001t0001g0219 a0001c0001t0001g0284 a0009c0008t0001g0077	3	344	0.0087	36	c.88- others(53): Show c.88-34944_88-34943insACATATATGTGTATATATACGTATATAT ACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203112	T T	TATATATA others(29): Show TATATATACATATATGTGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0171 a0003c0002t0003g0171	1	344	0.0029	36	c.88- others(53): Show c.88-34850_88-34849insACATATATGTGTATATATGTGTATATAT ACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203270	T T	TATATATA others(29): Show TATATATACATATATGTGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18948.hp2 NA18954.hp1 others(5): Show NA18612.hp1 NA18948.hp2 NA18954.hp1 NA18962.hp2 NA18982.hp1 NA18990.hp1 NA19077.hp1 NA19091.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0009	a0001c0001 a0002c0004 a0003c0002 others(2): Show a0001c0001 a0002c0004 a0003c0002 a0007c0006 a0009c0008	a0001c0001t0001 a0002c0004t0003 a0003c0002t0003 others(2): Show a0001c0001t0001 a0002c0004t0003 a0003c0002t0003 a0007c0006t0005 a0009c0008t0001	a0001c0001t0001g0117 a0001c0001t0001g0142 a0001c0001t0001g0143 others(5): Show a0001c0001t0001g0117 a0001c0001t0001g0142 a0001c0001t0001g0143 a0002c0004t0003g0124 a0003c0002t0003g0314 a0007c0006t0005g0149 a0007c0006t0005g0289 a0009c0008t0001g0270	8	344	0.0233	36	c.88- others(53): Show c.88-34692_88-34691insACATATATGTGTATATATGTGTATATAT ACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	344	0.0029	36	c.546 others(51): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	344	0.0029	36	c.546 others(51): Show c.546+711_546+712insATATATATATATATATATATATATATTTTT TTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19091.hp2 NA18953.hp1 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0002 a0001c0001t0002 a0005c0005t0002	a0001c0001t0002g0150 a0005c0005t0002g0197 a0001c0001t0002g0150 a0005c0005t0002g0197	2	344	0.0058	36	c.546 others(51): Show c.546+711_546+712insATATATATATATATATATATATTTTTTTTT TTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089611	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0004 a0007c0006t0004	a0007c0006t0004g0173 a0007c0006t0004g0173	1	284	0.0035	36	c.145 others(53): Show c.1459+256_1459+257insCATATATATATATATATATATATATATA TATATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134747832	C C	CATATGCA others(29): Show CATATGCAGACACATGCACACATGCGTTCATACACAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0008 a0008	a0008c0030 a0008c0030	a0008c0030t0001 a0008c0030t0001	a0008c0030t0001g0137 a0008c0030t0001g0137	1	272	0.0037	36	c.149 others(55): Show c.1495-2708_1495-2707insATGCAGACACATGCACACATGCGTTC ATACACATAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	11/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(29): Show GACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG01261.hp2 others(10): Show HG01081.hp1 HG01255.hp2 HG01261.hp2 HG02055.hp1 HG02717.hp1 HG02723.hp1 HG02965.hp1 HG06807.hp2 NA18906.hp2 NA18973.hp2 NA18978.hp1 NA19003.hp1 NA19043.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0014 a0004c0013 a0001c0001 a0003c0014 a0004c0013	a0001c0001t0001 a0001c0001t0013 a0003c0014t0001 others(1): Show a0001c0001t0001 a0001c0001t0013 a0003c0014t0001 a0004c0013t0001	a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0084 others(10): Show a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0158 a0001c0001t0001g0239 a0001c0001t0013g0145 a0003c0014t0001g0039 a0004c0013t0001g0113 a0004c0013t0001g0114	13	248	0.0524	36	c.457 others(53): Show c.457-2204_457-2169dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9970020	T T	TCTGTAAG others(29): Show TCTGTAAGGTGAGTGGGGTCTGTGGGGTAAGCGGGGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0052 a0052	a0052c0128 a0052c0128	a0052c0128t0001 a0052c0128t0001	a0052c0128t0001g0277 a0052c0128t0001g0277	1	412	0.0024	36	c.393 others(51): Show c.3937-99_3937-98insCCCCCGCTTACCCCACAGACCCCACTCACC TTACAG	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9970092	T T	TGGGGTGA others(29): Show TGGGGTGAGTGGGGTCTGTGGGTGAGTGGGGGCTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02004.hp1 HG02809.hp2 others(13): Show HG00642.hp1 HG02004.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1	a0005 a0006 a0007 others(2): Show a0005 a0006 a0007 a0026 a0046	a0005c0029 a0006c0055 a0007c0021 others(4): Show a0005c0029 a0006c0055 a0007c0021 a0007c0032 a0026c0056 a0026c0086 a0046c0075	a0005c0029t0001 a0006c0055t0002 a0007c0021t0008 others(5): Show a0005c0029t0001 a0006c0055t0002 a0007c0021t0008 a0007c0032t0007 a0007c0032t0008 a0026c0056t0002 a0026c0086t0002 a0046c0075t0007	a0005c0029t0001g0262 a0005c0029t0001g0263 a0005c0029t0001g0264 others(12): Show a0005c0029t0001g0262 a0005c0029t0001g0263 a0005c0029t0001g0264 a0006c0055t0002g0305 a0007c0021t0008g0002 a0007c0021t0008g0393 a0007c0021t0008g0396 a0007c0021t0008g0398 a0007c0032t0007g0114 a0007c0032t0008g0037 a0007c0032t0008g0128 a0026c0056t0002g0303 a0026c0056t0002g0407 a0026c0086t0002g0165 a0046c0075t0007g0053	16	412	0.0388	36	c.393 others(53): Show c.3937-171_3937-170insCACAGCCCCCACTCACCCACAGACCCCA CTCACCCC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	46005444	T T	TAGGAAGA others(29): Show TAGGAAGAAGTCTTGGGAGGCTCCACCTTTGGGGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01106.hp2 others(14): Show HG00280.hp2 HG00733.hp2 HG01106.hp2 HG01167.hp2 HG01361.hp2 HG01943.hp1 HG02145.hp2 HG02717.hp1 HG02895.hp1 HG02922.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 NA18906.hp1 NA18906.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0003 a0001c0007 a0001c0010 others(7): Show a0001c0003 a0001c0007 a0001c0010 a0001c0035 a0002c0002 a0003c0004 a0003c0028 a0005c0006 a0005c0023 a0008c0015	a0001c0003t0003 a0001c0007t0001 a0001c0010t0005 others(9): Show a0001c0003t0003 a0001c0007t0001 a0001c0010t0005 a0001c0035t0002 a0002c0002t0001 a0002c0002t0010 a0003c0004t0001 a0003c0004t0012 a0003c0028t0001 a0005c0006t0001 a0005c0023t0001 a0008c0015t0002	a0001c0003t0003g0034 a0001c0007t0001g0001 a0001c0010t0005g0072 others(14): Show a0001c0003t0003g0034 a0001c0007t0001g0001 a0001c0010t0005g0072 a0001c0035t0002g0010 a0002c0002t0001g0012 a0002c0002t0001g0037 a0002c0002t0010g0123 a0003c0004t0001g0061 a0003c0004t0001g0062 a0003c0004t0001g0070 a0003c0004t0001g0095 a0003c0004t0012g0064 a0003c0028t0001g0053 a0005c0006t0001g0067 a0005c0006t0001g0069 a0005c0023t0001g0060 a0008c0015t0002g0089	17	128	0.1328	36	c.14 others(47): Show c.1431_*1432insAGGAAGAAGTCTTGGGAGGCTCCACCTTTGGGGC AG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		397		chr21	TogoVar

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