Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COG6_chr13_39650662_39757628	39730773	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01361.hp2 HG02723.hp1 others(4): Show HG01081.hp1 HG01361.hp2 HG02723.hp1 NA18612.hp2 NA18984.hp1 NA18998.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 others(4): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0158 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0214	7	370	0.0189	19	c.182 others(38): Show c.1826+3233_1826+3251dupAAAAAAAAAAAAAAAAAAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39747890	G G	GTTAAATA others(12): Show GTTAAATACTACATTTACAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19080.hp1 NA19064.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0095 a0001c0001t0001g0096	2	370	0.0054	19	c.182 others(38): Show c.1827-3055_1827-3037dupTTAAATACTACATTTACAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG8_chr16_69321428_69344564	69324706	A A	ACCCAGAC others(12): Show ACCCAGACCTCCAGACAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0117 a0001c0002t0003g0117	1	360	0.0028	19	c.44 others(30): Show c.4481_*4499dupGGCTGTCTGGAGGTCTGGG	COG8	ENSG00000213380.16	transcript	ENST00000306875.10	protein_coding		1721		chr16	TogoVar
COL12A1_chr6_75079326_75211053	75140655	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03492.hp2 HG04199.hp2 others(2): Show HG02523.hp2 HG03492.hp2 HG04199.hp2 NA18945.hp2 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0002 a0001c0001t0001 a0002c0006t0002	a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0001g0174 others(2): Show a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0001g0174 a0001c0001t0001g0181 a0002c0006t0002g0066	5	206	0.0243	19	c.495 others(38): Show c.4957+1358_4957+1376dupTTTTTTTTTTTTTTTTTTT	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding	27/65			chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208152	C C	CTCTCTCT others(12): Show CTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0012 a0008c0011t0012	a0008c0011t0012g0041 a0008c0011t0012g0041	1	206	0.0049	19	c.-24 others(30): Show c.-2412_-2411insAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2100		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208158	C C	CTCTCTCT others(12): Show CTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	206	0.0049	19	c.-24 others(30): Show c.-2418_-2417insAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2106		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69889308	G G	GGGGGGCA others(12): Show GGGGGGCAGGGAGGAGCACA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03834.hp1 HG03710.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0093 a0001c0002t0001g0174 a0001c0001t0001g0093 a0001c0002t0001g0174	2	324	0.0062	19	c.577 others(32): Show c.577-88_577-70dupCAGGGGGCAGGGAGGAGCA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	9/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69933135	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	324	0.0031	19	c.172 others(36): Show c.1728+545_1728+563dupAAAAAAAAAAAAAAAAAAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	31/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL15A1_chr9_98938907_99075787	99024268	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02040.hp1 HG03834.hp2 others(8): Show HG00280.hp1 HG02040.hp1 HG03834.hp2 NA18939.hp2 NA18952.hp1 NA18971.hp1 NA18992.hp1 NA18997.hp1 NA19080.hp1 NA19084.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0033	a0001c0001 a0001c0013 a0002c0002 others(3): Show a0001c0001 a0001c0013 a0002c0002 a0002c0069 a0003c0036 a0033c0038	a0001c0001t0002 a0001c0013t0001 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0013t0001 a0002c0002t0001 a0002c0069t0010 a0003c0036t0001 a0033c0038t0001	a0001c0001t0002g0070 a0001c0013t0001g0064 a0001c0013t0001g0068 others(8): Show a0001c0001t0002g0070 a0001c0013t0001g0064 a0001c0013t0001g0068 a0001c0013t0001g0257 a0002c0002t0001g0083 a0002c0002t0001g0105 a0002c0002t0001g0110 a0002c0002t0001g0281 a0002c0069t0010g0047 a0003c0036t0001g0274 a0033c0038t0001g0028	11	310	0.0355	19	c.185 others(36): Show c.1855-598_1855-597insTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	14/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99066599	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18984.hp1 HG04228.hp1 NA18984.hp1	a0001 a0005 a0001 a0005	a0001c0013 a0005c0059 a0001c0013 a0005c0059	a0001c0013t0001 a0005c0059t0001 a0001c0013t0001 a0005c0059t0001	a0001c0013t0001g0015 a0005c0059t0001g0112 a0001c0013t0001g0015 a0005c0059t0001g0112	2	310	0.0065	19	c.365 others(36): Show c.3652-276_3652-258dupTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL16A1_chr1_31647263_31709017	31707385	T T	TTTTCTTT others(12): Show TTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG02055.hp1 others(13): Show HG00621.hp2 HG00735.hp1 HG02055.hp1 HG02148.hp2 HG02735.hp2 HG03490.hp2 HG03579.hp1 NA18945.hp2 NA18950.hp2 NA18964.hp2 NA18977.hp2 NA18984.hp2 NA19007.hp1 NA19012.hp2 NA19082.hp1 NA19090.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0019	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0009 a0010c0018 a0019c0033	a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0009t0001 a0010c0018t0001 a0019c0033t0007	a0001c0001t0001g0209 a0001c0003t0002g0221 a0002c0002t0001g0145 others(12): Show a0001c0001t0001g0209 a0001c0003t0002g0221 a0002c0002t0001g0145 a0002c0002t0001g0165 a0002c0002t0002g0012 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0004t0001g0144 a0002c0009t0001g0079 a0002c0009t0001g0186 a0010c0018t0001g0194 a0019c0033t0007g0299	16	342	0.0468	19	c.-35 others(30): Show c.-3584_-3583insGAAAAGAAAAGAAAAGAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3369		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45498370	C C	CGGTCCCC others(12): Show CGGTCCCCTCTCGCCGCCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01192.hp2 others(2): Show HG00099.hp1 HG00642.hp2 HG01192.hp2 HG01978.hp2 HG03927.hp2	a0001 a0029 a0001 a0029	a0001c0013 a0029c0071 a0001c0013 a0029c0071	a0001c0013t0002 a0001c0013t0014 a0029c0071t0002 a0001c0013t0002 a0001c0013t0014 a0029c0071t0002	a0001c0013t0002g0122 a0001c0013t0002g0206 a0001c0013t0002g0207 others(2): Show a0001c0013t0002g0122 a0001c0013t0002g0206 a0001c0013t0002g0207 a0001c0013t0014g0210 a0029c0071t0002g0134	5	292	0.0171	19	c.268 others(36): Show c.2683+747_2683+765dupGGGTCCCCTCTCGCCGCCA	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921058	T T	TATATATT others(12): Show TATATATTCATAGACATATC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG00741.hp2 others(48): Show HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01884.hp2 HG01952.hp2 HG02074.hp1 HG02109.hp2 HG02165.hp1 HG02257.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG04199.hp2 HG04228.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 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0010	a0001c0001 a0002c0003 a0002c0004 others(8): Show a0001c0001 a0002c0003 a0002c0004 a0002c0006 a0002c0009 a0002c0011 a0002c0020 a0003c0010 a0005c0013 a0008c0019 a0010c0021	a0001c0001t0006 a0002c0003t0002 a0002c0003t0012 others(22): Show a0001c0001t0006 a0002c0003t0002 a0002c0003t0012 a0002c0003t0018 a0002c0003t0021 a0002c0003t0031 a0002c0003t0034 a0002c0004t0001 a0002c0004t0002 a0002c0004t0006 a0002c0004t0008 a0002c0004t0009 a0002c0004t0011 a0002c0004t0012 a0002c0004t0019 a0002c0006t0003 a0002c0006t0007 a0002c0006t0036 a0002c0009t0004 a0002c0011t0005 a0002c0020t0006 a0003c0010t0013 a0005c0013t0002 a0008c0019t0001 a0010c0021t0001	a0001c0001t0006g0107 a0002c0003t0002g0018 a0002c0003t0002g0026 others(48): Show a0001c0001t0006g0107 a0002c0003t0002g0018 a0002c0003t0002g0026 a0002c0003t0002g0032 a0002c0003t0002g0040 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0049 a0002c0003t0012g0164 a0002c0003t0018g0014 a0002c0003t0018g0138 a0002c0003t0021g0015 a0002c0003t0031g0075 a0002c0003t0034g0041 a0002c0004t0001g0008 a0002c0004t0001g0013 a0002c0004t0001g0036 a0002c0004t0001g0048 a0002c0004t0001g0124 a0002c0004t0002g0033 a0002c0004t0006g0007 a0002c0004t0006g0009 a0002c0004t0006g0108 a0002c0004t0006g0109 a0002c0004t0008g0038 a0002c0004t0009g0070 a0002c0004t0011g0039 a0002c0004t0012g0159 a0002c0004t0019g0011 a0002c0006t0003g0029 a0002c0006t0003g0030 a0002c0006t0003g0034 a0002c0006t0003g0035 a0002c0006t0003g0131 a0002c0006t0007g0019 a0002c0006t0007g0085 a0002c0006t0036g0017 a0002c0009t0004g0031 a0002c0009t0004g0037 a0002c0009t0004g0067 a0002c0009t0004g0128 a0002c0009t0004g0129 a0002c0009t0004g0176 a0002c0011t0005g0021 a0002c0011t0005g0076 a0002c0020t0006g0006 a0003c0010t0013g0172 a0005c0013t0002g0046 a0008c0019t0001g0106 a0010c0021t0001g0052	51	182	0.2802	19	c.267 others(36): Show c.267-6844_267-6826dupTCATAGACATATCATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69921058	T T	TATATATT others(12): Show TATATATTCATAGGCATATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01106.hp1 others(20): Show HG00099.hp2 HG01069.hp2 HG01106.hp1 HG01175.hp1 HG01256.hp1 HG01515.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02886.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG06807.hp1 NA19030.hp1 NA20129.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0002c0003 a0002c0004 a0002c0006 a0002c0009 a0004c0018 a0007c0022	a0001c0001t0001 a0001c0001t0022 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0040 a0001c0005t0010 a0001c0008t0014 a0002c0003t0002 a0002c0003t0011 a0002c0003t0039 a0002c0004t0001 a0002c0004t0011 a0002c0004t0016 a0002c0006t0003 a0002c0009t0014 a0004c0018t0025 a0007c0022t0003	a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0001g0180 others(20): Show a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0022g0069 a0001c0002t0001g0073 a0001c0002t0002g0059 a0001c0002t0008g0160 a0001c0002t0040g0132 a0001c0005t0010g0074 a0001c0008t0014g0136 a0002c0003t0002g0175 a0002c0003t0011g0115 a0002c0003t0039g0127 a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0004t0001g0161 a0002c0004t0011g0111 a0002c0004t0016g0112 a0002c0006t0003g0162 a0002c0006t0003g0163 a0002c0009t0014g0012 a0004c0018t0025g0114 a0007c0022t0003g0113	23	182	0.1264	19	c.267 others(36): Show c.267-6839_267-6838insGCATATCATATATTCATAG	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL1A2_chr7_94389895_94436227	94423569	C C	CTTTTTGT others(12): Show CTTTTTGTTTTTGTTTTTTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0137 a0001c0009t0001g0137	1	438	0.0023	19	c.256 others(36): Show c.2565+470_2565+488dupGTTTTTGTTTTTGTTTTTT	COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	40/51		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL22A1_chr8_138583235_138919041	138809528	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG01099.hp1 others(30): Show HG00597.hp2 HG00639.hp1 HG01099.hp1 HG01261.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG02280.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG03492.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA19030.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0013	a0001c0002 a0001c0006 a0001c0008 others(15): Show a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0001c0014 a0001c0015 a0001c0044 a0002c0003 a0002c0004 a0002c0005 a0002c0022 a0002c0023 a0003c0033 a0004c0019 a0005c0061 a0006c0037 a0011c0043 a0013c0049	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(24): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0006t0001 a0001c0008t0001 a0001c0008t0002 a0001c0010t0001 a0001c0010t0007 a0001c0014t0011 a0001c0015t0002 a0001c0044t0002 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002 a0002c0005t0003 a0002c0005t0009 a0002c0022t0002 a0002c0023t0001 a0003c0033t0002 a0004c0019t0001 a0005c0061t0001 a0006c0037t0008 a0011c0043t0001 a0013c0049t0006	a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0108 others(30): Show a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0108 a0001c0002t0002g0043 a0001c0002t0005g0151 a0001c0006t0001g0062 a0001c0008t0001g0041 a0001c0008t0002g0026 a0001c0008t0002g0133 a0001c0010t0001g0027 a0001c0010t0001g0128 a0001c0010t0007g0155 a0001c0014t0011g0091 a0001c0015t0002g0120 a0001c0044t0002g0065 a0002c0003t0001g0076 a0002c0003t0001g0112 a0002c0003t0003g0001 a0002c0004t0001g0127 a0002c0004t0002g0088 a0002c0005t0001g0074 a0002c0005t0002g0092 a0002c0005t0003g0005 a0002c0005t0009g0135 a0002c0022t0002g0028 a0002c0023t0001g0036 a0002c0023t0001g0117 a0003c0033t0002g0015 a0004c0019t0001g0130 a0005c0061t0001g0105 a0006c0037t0008g0067 a0011c0043t0001g0056 a0013c0049t0006g0078	33	158	0.2089	19	c.145 others(38): Show c.1450-1717_1450-1716insAAAAAAAAAAAAAAAAAAA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	9/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138902737	T T	TAATATAT others(12): Show TAATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0004 a0002c0060t0004	a0002c0060t0004g0106 a0002c0060t0004g0106	1	158	0.0063	19	c.-73 others(38): Show c.-73+10881_-73+10882insGTGTGTGTGTGTATATATT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	1/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178403108	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0010 a0003c0005t0003g0010	1	236	0.0042	19	c.362 others(38): Show c.362-96190_362-96189insTTTTTTTTTTTTTTTTTTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178524699	G G	GCTCTTGC others(12): Show GCTCTTGCCCTGCTGCCTGC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0200 a0001c0001t0004g0200	1	236	0.0042	19	c.361 others(38): Show c.361+35964_361+35982dupGCAGGCAGCAGGGCAAGAG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85906264	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01496.hp2 HG02129.hp2 others(3): Show HG01074.hp2 HG01496.hp2 HG02129.hp2 HG02970.hp1 NA18992.hp1 NA19066.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0017	a0001c0001 a0003c0007 a0005c0004 others(1): Show a0001c0001 a0003c0007 a0005c0004 a0017c0022	a0001c0001t0001 a0001c0001t0002 a0003c0007t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0007t0003 a0005c0004t0002 a0017c0022t0003	a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0002g0161 others(3): Show a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0002g0161 a0003c0007t0003g0074 a0005c0004t0002g0182 a0017c0022t0003g0017	6	238	0.0252	19	c.277 others(36): Show c.2778+929_2778+930insAAAAAAAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	28/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	86108620	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0151 a0004c0002t0001g0151	1	238	0.0042	19	c.159 others(38): Show c.1599+3928_1599+3946dupTTTTTTTTTTTTTTTTTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108807833	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	130	0.0077	19	c.60 others(30): Show c.6093_*6094insAAAAAAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding		891		chr4	TogoVar
COL25A1_chr4_108803725_109307658	108807839	T T	TATATATA others(12): Show TATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18998.hp1 NA19086.hp2 NA18952.hp2 NA18998.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0002 a0001c0001t0002 a0001c0009t0002	a0001c0001t0002g0091 a0001c0001t0002g0116 a0001c0009t0002g0097 a0001c0001t0002g0091 a0001c0001t0002g0116 a0001c0009t0002g0097	3	130	0.0231	19	c.60 others(30): Show c.6087_*6088insTATATATATATATATATAT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding		885		chr4	TogoVar
COL25A1_chr4_108803725_109307658	108822043	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02486.hp1 HG01981.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0080 a0001c0001t0016g0009 a0001c0001t0001g0080 a0001c0001t0016g0009	2	130	0.0154	19	c.184 others(38): Show c.1845+2130_1845+2131insAAAAAAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	35/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108835861	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03492.hp1 HG02970.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0003 a0001c0002t0001 a0001c0010t0003	a0001c0002t0001g0125 a0001c0010t0003g0017 a0001c0002t0001g0125 a0001c0010t0003g0017	2	130	0.0154	19	c.165 others(38): Show c.1657-3447_1657-3429dupAAAAAAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	31/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108966926	A A	AAGAAAGA others(12): Show AAGAAAGAAAGAAAAGAGAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	130	0.0077	19	c.492 others(36): Show c.492+7440_492+7441insCTCTCTTTTCTTTCTTTCT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	8/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109000743	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	130	0.0077	19	c.438 others(36): Show c.438+9596_438+9614dupTTTTTTTTTTTTTTTTTTT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	6/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109218356	G G	GGTTTTTT others(12): Show GGTTTTTTGTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 NA18522.hp1 HG02965.hp1 HG02965.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0058 a0001c0001t0003g0032 a0001c0002t0001g0066 a0001c0001t0002g0058 a0001c0001t0003g0032 a0001c0002t0001g0066	3	130	0.0231	19	c.367 others(38): Show c.367+82226_367+82227insAAACAAACAAACAAAAAAC	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109218357	G G	GTTTTTTT others(12): Show GTTTTTTTTTTGTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp2 HG02896.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0037 a0001c0002t0003g0010 a0001c0001t0001g0037 a0001c0002t0003g0010	2	130	0.0154	19	c.367 others(38): Show c.367+82225_367+82226insAAAACAAACAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109218361	T T	TTTTTTTG others(12): Show TTTTTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0040 a0001c0004t0001g0040	1	130	0.0077	19	c.367 others(38): Show c.367+82221_367+82222insCAAACAAACAAACAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101386273	T T	TTTTTTTT others(12): Show TTTTTTTTTTGTTTTTTTAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0010 a0001c0002t0006g0010	1	174	0.0058	19	c.158 others(38): Show c.158+23090_158+23091insTTGTTTTTTTAATTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463771	T T	TTCTTTCT others(12): Show TTCTTTCTTTCTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02647.hp1 HG00673.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0020 a0001c0001t0002 a0001c0002t0020	a0001c0001t0002g0074 a0001c0002t0020g0001 a0001c0001t0002g0074 a0001c0002t0020g0001	2	174	0.0115	19	c.385 others(38): Show c.385+15996_385+15997insCTCTCTCTCTTTCTTTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463774	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0085 a0001c0005t0008g0085	1	174	0.0058	19	c.385 others(38): Show c.385+15999_385+16000insCTCTCTCTTCTTTCTTTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7374038	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0002 a0006c0015t0002	a0006c0015t0002g0179 a0006c0015t0002g0179	1	196	0.0051	19	c.236 others(36): Show c.2360-493_2360-492insATATATATATTTTTTTTTT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	31/34			chr7	TogoVar
COL28A1_chr7_7352875_7540873	7474056	C C	CTCTCTAT others(12): Show CTCTCTATATATGGAATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG02647.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0003 a0002c0002t0002 a0002c0004t0003	a0002c0002t0002g0037 a0002c0004t0003g0041 a0002c0002t0002g0037 a0002c0004t0003g0041	2	196	0.0102	19	c.130 others(36): Show c.1302+544_1302+545insTATATTCCATATATAGAGA	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	15/34			chr7	TogoVar
COL3A1_chr2_188969373_189017746	188972936	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	376	0.0027	19	c.-15 others(30): Show c.-1554_-1553insAAAAAAAAAAAAAAAAAAA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		1436		chr2	TogoVar
COL4A1_chr13_110143963_110312157	110145379	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0002 a0002c0024t0002	a0002c0024t0002g0276 a0002c0024t0002g0276	1	344	0.0029	19	c.49 others(30): Show c.4983_*4984insTTTTTTTTTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding		3583		chr13	TogoVar
COL4A1_chr13_110143963_110312157	110169918	A A	AAGGAAGG others(12): Show AAGGAAGGAAGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0044 a0002c0044	a0002c0044t0001 a0002c0044t0001	a0002c0044t0001g0209 a0002c0044t0001g0209	1	344	0.0029	19	c.374 others(36): Show c.3743-175_3743-157dupCCCTCCCTCCTTCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	42/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110198076	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0233 a0003c0008t0003g0233	1	344	0.0029	19	c.128 others(36): Show c.1285+390_1285+391insACACACACACACACACACA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	21/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110222771	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0195 a0002c0002t0003g0195	1	344	0.0029	19	c.145 others(36): Show c.145-8757_145-8756insTTTTTTTTTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255617	G G	GGGGAAGG others(12): Show GGGGAAGGCAGGAAGGGAGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0039 a0002c0039	a0002c0039t0002 a0002c0039t0002	a0002c0039t0002g0271 a0002c0039t0002g0271	1	344	0.0029	19	c.85- others(36): Show c.85-12884_85-12883insGCTCCCTTCCTGCCTTCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255645	C C	CAGGCAGG others(12): Show CAGGCAGGAAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0098 a0003c0098	a0003c0098t0003 a0003c0098t0003	a0003c0098t0003g0206 a0003c0098t0003g0206	1	344	0.0029	19	c.85- others(36): Show c.85-12912_85-12911insTCCTCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255746	A A	AAGGGGGA others(12): Show AAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0001 a0001c0059t0001	a0001c0059t0001g0091 a0001c0059t0001g0091	1	344	0.0029	19	c.85- others(36): Show c.85-13031_85-13013dupCCCTTCCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AAGGGGGA others(12): Show AAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	344	0.0029	19	c.85- others(36): Show c.85-13091_85-13073dupCCCTTCCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AAGGGGGA others(12): Show AAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02257.hp2 HG02809.hp2 others(3): Show HG01975.hp2 HG02257.hp2 HG02809.hp2 HG02818.hp2 NA18962.hp2 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0001c0013 a0003c0009	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0007t0005 a0001c0013t0001 a0003c0009t0001	a0001c0001t0001g0107 a0001c0003t0001g0094 a0001c0007t0001g0153 others(3): Show a0001c0001t0001g0107 a0001c0003t0001g0094 a0001c0007t0001g0153 a0001c0007t0005g0152 a0001c0013t0001g0030 a0003c0009t0001g0201	6	344	0.0174	19	c.85- others(36): Show c.85-13111_85-13093dupCCCTTCCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110351325	T T	TGGGTCTC others(12): Show TGGGTCTCCCAAAGTGCTGG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0333 a0001c0003t0002g0333	1	372	0.0027	19	c.100 others(36): Show c.100-6145_100-6127dupGGTCTCCCAAAGTGCTGGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0175 a0003c0002t0003g0175	1	344	0.0029	19	c.546 others(34): Show c.546+711_546+712insATATATTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18954.hp1 NA18980.hp2 others(1): Show HG02976.hp1 NA18954.hp1 NA18980.hp2 NA19010.hp1	a0003 a0006 a0003 a0006	a0003c0002 a0006c0010 a0003c0002 a0006c0010	a0003c0002t0001 a0003c0002t0003 a0006c0010t0006 a0003c0002t0001 a0003c0002t0003 a0006c0010t0006	a0003c0002t0001g0229 a0003c0002t0003g0088 a0003c0002t0003g0314 others(1): Show a0003c0002t0001g0229 a0003c0002t0003g0088 a0003c0002t0003g0314 a0006c0010t0006g0063	4	344	0.0116	19	c.546 others(34): Show c.546+711_546+712insATATTTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0174 a0003c0002t0003g0174	1	344	0.0029	19	c.546 others(34): Show c.546+711_546+712insATTTTTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227302677	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03834.hp2 HG03239.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0279 a0001c0001t0001g0242 a0001c0001t0001g0279	2	344	0.0058	19	c.388 others(36): Show c.3883-350_3883-332dupAAAAAAAAAAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	43/51		INFO_REALIGN_3_PRIME	chr2	TogoVar

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