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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
COL25A1_chr4_108803725_109307658	109062566	TCTGTACA others(5): Show TCTGTACACAAAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp1 others(13): Show HG00140.hp1 HG00323.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01167.hp1 HG01167.hp2 HG01361.hp2 HG02165.hp2 HG02622.hp1 HG02717.hp1 HG02809.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 a0001c0003t0023 a0001c0004t0003	a0001c0001t0001g0081 a0001c0001t0002g0054 a0001c0001t0002g0071 others(13): Show a0001c0001t0001g0081 a0001c0001t0002g0054 a0001c0001t0002g0071 a0001c0001t0002g0094 a0001c0001t0003g0020 a0001c0001t0006g0051 a0001c0001t0006g0072 a0001c0001t0012g0106 a0001c0001t0014g0012 a0001c0001t0027g0086 a0001c0002t0001g0130 a0001c0002t0008g0087 a0001c0002t0010g0013 a0001c0002t0010g0030 a0001c0003t0023g0127 a0001c0004t0003g0014	16	130	0.1231	-12	c.368 others(31): Show c.368-12399_368-12388delCTTTGTGTACAG		COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37						chr4	TogoVar
COL25A1_chr4_108803725_109307658	109198294	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02630.hp1 others(4): Show HG01884.hp1 HG02109.hp2 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02970.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0014 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0002t0001 a0001c0003t0001	a0001c0001t0002g0063 a0001c0001t0002g0117 a0001c0001t0002g0126 others(4): Show a0001c0001t0002g0063 a0001c0001t0002g0117 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0014g0012 a0001c0002t0001g0125 a0001c0003t0001g0055	7	130	0.0539	-12	c.367 others(33): Show c.367+102277_367+102288delTGTGTGTGTGTG		COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37						chr4	TogoVar
COL25A1_chr4_108803725_109307658	109211262	ATATATAT others(5): Show ATATATATGAAAC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG02965.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0058 a0001c0002t0001g0066 a0001c0001t0002g0058 a0001c0002t0001g0066	2	130	0.0154	-12	c.367 others(31): Show c.367+89309_367+89320delGTTTCATATATA		COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37						chr4	TogoVar
COL25A1_chr4_108803725_109307658	109211290	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG03209.hp1 others(1): Show HG00639.hp2 HG01884.hp2 HG03209.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0021 a0001c0006t0015 a0001c0001t0001 a0001c0002t0021 a0001c0006t0015	a0001c0001t0001g0081 a0001c0001t0001g0119 a0001c0002t0021g0082 others(1): Show a0001c0001t0001g0081 a0001c0001t0001g0119 a0001c0002t0021g0082 a0001c0006t0015g0022	4	130	0.0308	-12	c.367 others(31): Show c.367+89281_367+89292delTATATATATATA		COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37						chr4	TogoVar
COL25A1_chr4_108803725_109307658	109239390	GTGTGTAT others(5): Show GTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02895.hp1 HG02896.hp2 others(4): Show HG01243.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG03195.hp2 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0022	a0001c0001t0001g0068 a0001c0001t0001g0119 a0001c0001t0002g0088 others(4): Show a0001c0001t0001g0068 a0001c0001t0001g0119 a0001c0001t0002g0088 a0001c0001t0002g0118 a0001c0002t0001g0038 a0001c0002t0001g0052 a0001c0002t0022g0073	7	130	0.0539	-12	c.367 others(31): Show c.367+61181_367+61192delTATATATACACA		COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37						chr4	TogoVar
COL25A1_chr4_108803725_109307658	109265518	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19086.hp2 HG02071.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0007 a0001c0009t0002 a0001c0001t0007 a0001c0009t0002	a0001c0001t0007g0090 a0001c0009t0002g0097 a0001c0001t0007g0090 a0001c0009t0002g0097	2	130	0.0154	-12	c.367 others(31): Show c.367+35053_367+35064delACACACACACAC		COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37						chr4	TogoVar
COL25A1_chr4_108803725_109307658	109288960	TATACACA others(5): Show TATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03710.hp2 HG03942.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0004t0004g0027 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0004t0004g0027	3	130	0.0231	-12	c.367 others(31): Show c.367+11611_367+11622delGTGTGTGTGTAT		COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37						chr4	TogoVar
COL25A1_chr4_108803725_109307658	109307178	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01175.hp2 HG01884.hp1 others(8): Show HG00639.hp2 HG01175.hp2 HG01884.hp1 HG02165.hp1 HG02280.hp2 HG02486.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG03139.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0017 a0001c0002t0003 a0001c0002t0004 a0001c0003t0004 a0001c0006t0015	a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0001g0080 others(8): Show a0001c0001t0001g0048 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0006g0049 a0001c0001t0017g0003 a0001c0002t0003g0010 a0001c0002t0004g0011 a0001c0003t0004g0001 a0001c0006t0015g0022	11	130	0.0846	-12	c.-50 others(23): Show c.-5078_-5067delAAAAAAAAAAAA		COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding					4521		chr4	TogoVar
COL26A1_chr7_101357875_101564024	101361765	AAAAAAGA others(5): Show AAAAAAGAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03041.hp1 HG03130.hp1 others(7): Show HG02647.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03516.hp1 NA18960.hp1 NA18970.hp2 NA18985.hp1 NA19005.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0014 others(2): Show a0001c0001 a0001c0005 a0001c0014 a0002c0003 a0002c0004	a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0005t0023 a0001c0014t0009 a0002c0003t0001 a0002c0004t0001	a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0173 others(7): Show a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0173 a0001c0001t0008g0115 a0001c0001t0011g0108 a0001c0005t0023g0116 a0001c0014t0009g0117 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0004t0001g0138	10	174	0.0575	-12	c.-12 others(23): Show c.-1267_-1256delAAAAAGAAAAAG		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding					1109		chr7	TogoVar
COL26A1_chr7_101357875_101564024	101387742	ATATATAT others(5): Show ATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18970.hp2 NA18984.hp2 others(4): Show NA18960.hp1 NA18970.hp2 NA18984.hp2 NA18985.hp1 NA19005.hp2 NA19060.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0114 a0001c0001t0002g0111 a0001c0001t0002g0113 others(4): Show a0001c0001t0001g0114 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0163 a0001c0001t0002g0173 a0002c0003t0001g0110 a0002c0003t0001g0112	7	174	0.0402	-12	c.158 others(31): Show c.158+24564_158+24575delTTATATATATAT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101401650	GGTGGAGG others(5): Show GGTGGAGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0140 a0002c0003t0001g0140	1	174	0.0058	-12	c.159 others(31): Show c.159-18325_159-18314delTGGAGGAGGAAG		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101434042	TTCCCTCC others(5): Show TTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(76): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02698.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18947.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18970.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA19005.hp2 NA19043.hp1 NA19054.hp2 NA19063.hp1 NA19063.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0003c0010 a0006c0016	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(23): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0002t0003 a0001c0002t0006 a0001c0002t0016 a0001c0002t0018 a0001c0005t0005 a0001c0005t0012 a0001c0008t0007 a0001c0009t0003 a0001c0009t0006 a0001c0009t0013 a0001c0012t0010 a0001c0013t0010 a0002c0003t0001 a0002c0003t0025 a0002c0004t0001 a0002c0006t0004 a0002c0006t0021 a0002c0007t0004 a0003c0010t0005 a0006c0016t0004	a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0111 others(76): Show a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0151 a0001c0001t0002g0173 a0001c0001t0005g0134 a0001c0001t0008g0169 a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0014g0109 a0001c0001t0014g0142 a0001c0001t0015g0127 a0001c0002t0003g0015 a0001c0002t0003g0021 a0001c0002t0003g0023 a0001c0002t0003g0025 a0001c0002t0003g0029 a0001c0002t0003g0031 a0001c0002t0003g0040 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0054 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0006g0010 a0001c0002t0006g0022 a0001c0002t0006g0034 a0001c0002t0006g0041 a0001c0002t0016g0030 a0001c0002t0018g0045 a0001c0005t0005g0106 a0001c0005t0012g0146 a0001c0008t0007g0121 a0001c0009t0003g0026 a0001c0009t0006g0019 a0001c0009t0013g0014 a0001c0012t0010g0002 a0001c0012t0010g0027 a0001c0013t0010g0028 a0002c0003t0001g0068 a0002c0003t0001g0090 a0002c0003t0001g0110 a0002c0003t0001g0123 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0164 a0002c0003t0025g0126 a0002c0004t0001g0131 a0002c0004t0001g0145 a0002c0004t0001g0150 a0002c0004t0001g0168 a0002c0006t0004g0011 a0002c0006t0004g0013 a0002c0006t0004g0016 a0002c0006t0004g0024 a0002c0006t0004g0032 a0002c0006t0004g0033 a0002c0006t0004g0042 a0002c0006t0004g0043 a0002c0006t0004g0044 a0002c0006t0004g0055 a0002c0006t0021g0017 a0002c0007t0004g0007 a0002c0007t0004g0018 a0002c0007t0004g0020 a0002c0007t0004g0037 a0002c0007t0004g0046 a0002c0007t0004g0053 a0003c0010t0005g0165 a0006c0016t0004g0035	79	174	0.4540	-12	c.282 others(31): Show c.282-13603_282-13592delCCTCCCTCCCTC		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463632	TTCCTTCC others(5): Show TTCCTTCCTTCCA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00621.hp1 others(31): Show HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01167.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG03492.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18947.hp1 NA18963.hp1 NA18963.hp2 NA18985.hp1 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19240.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0002c0007 a0007c0019	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0002t0006 a0001c0002t0018 a0001c0005t0002 a0001c0005t0008 a0001c0005t0023 a0001c0005t0029 a0002c0003t0001 a0002c0003t0026 a0002c0004t0001 a0002c0007t0004 a0007c0019t0028	a0001c0001t0002g0064 a0001c0001t0002g0074 a0001c0001t0002g0080 others(31): Show a0001c0001t0002g0064 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0132 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0173 a0001c0001t0005g0094 a0001c0001t0005g0137 a0001c0001t0008g0115 a0001c0001t0015g0060 a0001c0002t0006g0003 a0001c0002t0018g0045 a0001c0005t0002g0118 a0001c0005t0008g0085 a0001c0005t0023g0116 a0001c0005t0029g0092 a0002c0003t0001g0065 a0002c0003t0001g0071 a0002c0003t0001g0100 a0002c0003t0001g0102 a0002c0003t0001g0119 a0002c0003t0001g0164 a0002c0003t0026g0107 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0148 a0002c0007t0004g0053 a0007c0019t0028g0162	34	174	0.1954	-12	c.385 others(31): Show c.385+15853_385+15864delTTCCATCCTTCC		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101465813	TGGTGGTT others(5): Show TGGTGGTTTTACA	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0049 a0001c0002t0003g0049	1	174	0.0058	-12	c.385 others(31): Show c.385+18027_385+18038delGGTGGTTTTACA		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12						chr7	TogoVar
COL26A1_chr7_101357875_101564024	101466829	TGTGTGTG others(5): Show TGTGTGTGTGAGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01884.hp1 HG03516.hp1 others(1): Show HG00280.hp2 HG01884.hp1 HG03516.hp1 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0004 a0003c0010 a0002c0003 a0002c0004 a0003c0010	a0002c0003t0001 a0002c0004t0001 a0003c0010t0027 a0002c0003t0001 a0002c0004t0001 a0003c0010t0027	a0002c0003t0001g0088 a0002c0003t0001g0112 a0002c0004t0001g0138 others(1): Show a0002c0003t0001g0088 a0002c0003t0001g0112 a0002c0004t0001g0138 a0003c0010t0027g0172	4	174	0.0230	-12	c.385 others(31): Show c.385+19044_385+19055delTGTGTGTGAGAG		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101471571	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG01167.hp2 others(8): Show HG00621.hp2 HG00673.hp1 HG01167.hp2 HG02602.hp1 HG03017.hp2 HG03492.hp2 NA18942.hp2 NA18947.hp1 NA18963.hp1 NA18985.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 a0001c0002t0018 a0001c0005t0002 a0002c0003t0001	a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0098 others(8): Show a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0173 a0001c0001t0005g0094 a0001c0001t0005g0137 a0001c0002t0003g0015 a0001c0002t0018g0045 a0001c0005t0002g0118 a0002c0003t0001g0164	11	174	0.0632	-12	c.385 others(31): Show c.385+23799_385+23810delTTTTTTTTTTTT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101473608	CCACACAC others(5): Show CCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG03209.hp2 others(2): Show HG02109.hp2 HG02647.hp1 HG03209.hp2 HG03486.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0008 a0001c0001t0009 a0001c0002t0020 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0002t0020 a0002c0003t0001	a0001c0001t0008g0115 a0001c0001t0009g0159 a0001c0002t0020g0001 others(2): Show a0001c0001t0008g0115 a0001c0001t0009g0159 a0001c0002t0020g0001 a0002c0003t0001g0112 a0002c0003t0001g0161	5	174	0.0287	-12	c.385 others(31): Show c.385+25856_385+25867delCACACACACACA		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101475762	CTTTCTCT others(5): Show CTTTCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01884.hp1 HG02647.hp1 others(4): Show HG00280.hp2 HG01884.hp1 HG02647.hp1 HG02896.hp2 HG03516.hp1 HG03669.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0002c0004 a0003c0010	a0001c0001t0002 a0001c0002t0020 a0001c0009t0003 others(3): Show a0001c0001t0002 a0001c0002t0020 a0001c0009t0003 a0002c0003t0001 a0002c0004t0001 a0003c0010t0027	a0001c0001t0002g0174 a0001c0002t0020g0001 a0001c0009t0003g0026 others(4): Show a0001c0001t0002g0174 a0001c0002t0020g0001 a0001c0009t0003g0026 a0002c0003t0001g0088 a0002c0003t0001g0112 a0002c0004t0001g0138 a0003c0010t0027g0172	7	174	0.0402	-12	c.385 others(31): Show c.385+27977_385+27988delTTCTCTTTCTTT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101475892	CTTTCTCT others(5): Show CTTTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp1 HG03195.hp1 others(2): Show HG02486.hp1 HG02922.hp1 HG03195.hp1 NA18522.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0064 a0001c0001t0002g0084 a0001c0001t0002g0132 others(2): Show a0001c0001t0002g0064 a0001c0001t0002g0084 a0001c0001t0002g0132 a0002c0003t0001g0100 a0002c0003t0001g0158	5	174	0.0287	-12	c.385 others(31): Show c.385+28107_385+28118delTTCTCTCTCTTT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489601	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	174	0.0058	-12	c.385 others(31): Show c.385+41865_385+41876delTCTTTCTTTCTT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489656	TCTTTCTT others(5): Show TCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0131 a0002c0004t0001g0131	1	174	0.0058	-12	c.385 others(31): Show c.385+41873_385+41884delTCTTCCTTCCTT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489660	TCTTCCTT others(5): Show TCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG02965.hp2 HG01074.hp2 HG01261.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0007 a0001c0001 a0001c0008 a0002c0007	a0001c0001t0005 a0001c0008t0007 a0002c0007t0004 a0001c0001t0005 a0001c0008t0007 a0002c0007t0004	a0001c0001t0005g0059 a0001c0008t0007g0121 a0002c0007t0004g0007 a0001c0001t0005g0059 a0001c0008t0007g0121 a0002c0007t0004g0007	3	174	0.0172	-12	c.385 others(31): Show c.385+41885_385+41896delCCTTCCTTCCTT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101492699	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG03139.hp1 others(2): Show HG02647.hp1 HG02896.hp2 HG03139.hp1 HG03516.hp1 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0002t0020 a0002c0004t0001 a0001c0001t0002 a0001c0002t0020 a0002c0004t0001	a0001c0001t0002g0113 a0001c0001t0002g0174 a0001c0002t0020g0001 others(2): Show a0001c0001t0002g0113 a0001c0001t0002g0174 a0001c0002t0020g0001 a0002c0004t0001g0129 a0002c0004t0001g0138	5	174	0.0287	-12	c.386 others(31): Show c.386-40344_386-40333delATAAATAAATAA		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101517798	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00609.hp1 others(25): Show HG00140.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp2 HG01257.hp1 HG01258.hp1 HG01515.hp2 HG01978.hp2 HG02071.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02809.hp1 HG03130.hp2 HG03492.hp1 HG04199.hp1 NA18984.hp2 NA19005.hp2 NA19060.hp2 NA19080.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0004c0011 a0005c0015 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0006 a0001c0005t0002 a0001c0005t0012 a0001c0012t0010 a0002c0003t0001 a0002c0004t0001 a0002c0004t0024 a0002c0006t0004 a0002c0007t0004 a0004c0011t0003 a0005c0015t0013 a0006c0016t0004	a0001c0001t0001g0114 a0001c0001t0002g0111 a0001c0001t0002g0154 others(25): Show a0001c0001t0001g0114 a0001c0001t0002g0111 a0001c0001t0002g0154 a0001c0001t0002g0163 a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0009g0159 a0001c0002t0006g0022 a0001c0002t0006g0041 a0001c0005t0002g0155 a0001c0005t0012g0089 a0001c0005t0012g0146 a0001c0012t0010g0002 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0087 a0002c0003t0001g0102 a0002c0004t0001g0063 a0002c0004t0001g0097 a0002c0004t0001g0156 a0002c0004t0001g0157 a0002c0004t0024g0095 a0002c0006t0004g0011 a0002c0007t0004g0046 a0004c0011t0003g0012 a0004c0011t0003g0038 a0005c0015t0013g0036 a0006c0016t0004g0035	28	174	0.1609	-12	c.386 others(31): Show c.386-15262_386-15251delTTTTTTTTTTTT		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101557034	TGGATGGA others(5): Show TGGATGGATGGAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp1 HG01081.hp2 others(8): Show HG00140.hp1 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01261.hp2 HG01346.hp1 HG01515.hp2 HG01884.hp1 HG03130.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0001c0012 others(2): Show a0001c0001 a0001c0008 a0001c0012 a0001c0013 a0003c0010	a0001c0001t0011 a0001c0008t0007 a0001c0012t0010 others(2): Show a0001c0001t0011 a0001c0008t0007 a0001c0012t0010 a0001c0013t0010 a0003c0010t0027	a0001c0001t0011g0108 a0001c0008t0007g0069 a0001c0008t0007g0075 others(8): Show a0001c0001t0011g0108 a0001c0008t0007g0069 a0001c0008t0007g0075 a0001c0008t0007g0077 a0001c0008t0007g0078 a0001c0008t0007g0121 a0001c0012t0010g0002 a0001c0012t0010g0027 a0001c0013t0010g0028 a0001c0013t0010g0039 a0003c0010t0027g0172	11	174	0.0632	-12	c.116 others(29): Show c.1166-333_1166-322delATGGATGGACGG		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL27A1_chr9_114150537_114317511	114165982	TATTCATC others(5): Show TATTCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0010 a0006c0004t0010	a0006c0004t0010g0076 a0006c0004t0010g0076	1	308	0.0033	-12	c.134 others(29): Show c.134-1691_134-1680delCATCCATCCATT		COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	2/60					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114166262	TCCATCCA others(5): Show TCCATCCATCCAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02258.hp1 others(5): Show HG01109.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG03453.hp1 HG03486.hp2 NA20129.hp1	a0001 a0002 a0009 others(4): Show a0001 a0002 a0009 a0011 a0014 a0038 a0041	a0001c0166 a0002c0008 a0002c0167 others(5): Show a0001c0166 a0002c0008 a0002c0167 a0009c0138 a0011c0069 a0014c0168 a0038c0145 a0041c0170	a0001c0166t0008 a0002c0008t0003 a0002c0167t0037 others(5): Show a0001c0166t0008 a0002c0008t0003 a0002c0167t0037 a0009c0138t0006 a0011c0069t0031 a0014c0168t0002 a0038c0145t0006 a0041c0170t0032	a0001c0166t0008g0159 a0002c0008t0003g0157 a0002c0167t0037g0158 others(5): Show a0001c0166t0008g0159 a0002c0008t0003g0157 a0002c0167t0037g0158 a0009c0138t0006g0152 a0011c0069t0031g0161 a0014c0168t0002g0160 a0038c0145t0006g0156 a0041c0170t0032g0147	8	308	0.0260	-12	c.134 others(29): Show c.134-1415_134-1404delCCCATCCATCCA		COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	2/60					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114240547	CCTGTCCT others(5): Show CCTGTCCTGGGTA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0041 a0041	a0041c0170 a0041c0170	a0041c0170t0032 a0041c0170t0032	a0041c0170t0032g0147 a0041c0170t0032g0147	1	308	0.0033	-12	c.283 others(27): Show c.2835+64_2835+75delTCCTGGGTACTG		COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	21/60					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114278451	ACTGATGA others(5): Show ACTGATGATGGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0011 a0011	a0011c0069 a0011c0069	a0011c0069t0031 a0011c0069t0031	a0011c0069t0031g0161 a0011c0069t0031g0161	1	308	0.0033	-12	c.371 others(31): Show c.3717+2684_3717+2695delCTGATGATGGTG		COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60						chr9	TogoVar
COL28A1_chr7_7352875_7540873	7372398	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0170 a0002c0002t0002g0170	1	196	0.0051	-12	c.290 others(29): Show c.2908+588_2908+599delATTTATTTATTT		COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	32/34						chr7	TogoVar
COL28A1_chr7_7352875_7540873	7383250	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	196	0.0051	-12	c.213 others(31): Show c.2137-1650_2137-1639delCACACACACACA		COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	27/34						chr7	TogoVar
COL28A1_chr7_7352875_7540873	7462871	AAAAAGAA others(5): Show AAAAAGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0027 a0027	a0027c0042 a0027c0042	a0027c0042t0002 a0027c0042t0002	a0027c0042t0002g0089 a0027c0042t0002g0089	1	196	0.0051	-12	c.130 others(31): Show c.1303-6771_1303-6760delCTTTTTTCTTTT		COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	15/34						chr7	TogoVar
COL28A1_chr7_7352875_7540873	7497061	AGAAGGAA others(5): Show AGAAGGAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02717.hp1 HG02723.hp1 others(2): Show HG01109.hp1 HG02717.hp1 HG02723.hp1 HG02976.hp2 NA20129.hp2	a0002 a0007 a0012 a0002 a0007 a0012	a0002c0002 a0007c0008 a0007c0032 others(1): Show a0002c0002 a0007c0008 a0007c0032 a0012c0016	a0002c0002t0002 a0007c0008t0003 a0007c0032t0003 others(1): Show a0002c0002t0002 a0007c0008t0003 a0007c0032t0003 a0012c0016t0002	a0002c0002t0002g0015 a0007c0008t0003g0013 a0007c0008t0003g0161 others(2): Show a0002c0002t0002g0015 a0007c0008t0003g0013 a0007c0008t0003g0161 a0007c0032t0003g0014 a0012c0016t0002g0016	5	196	0.0255	-12	c.102 others(31): Show c.1027-6427_1027-6416delCTTTCTTCCTTC		COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	11/34						chr7	TogoVar
COL28A1_chr7_7352875_7540873	7497094	AAAGGAAG others(5): Show AAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG03098.hp2 others(1): Show HG02886.hp1 HG02965.hp2 HG03098.hp2 NA18522.hp2	a0006 a0017 a0019 others(1): Show a0006 a0017 a0019 a0033	a0006c0030 a0017c0020 a0019c0024 others(1): Show a0006c0030 a0017c0020 a0019c0024 a0033c0050	a0006c0030t0003 a0017c0020t0001 a0019c0024t0003 others(1): Show a0006c0030t0003 a0017c0020t0001 a0019c0024t0003 a0033c0050t0002	a0006c0030t0003g0065 a0017c0020t0001g0086 a0019c0024t0003g0167 others(1): Show a0006c0030t0003g0065 a0017c0020t0001g0086 a0019c0024t0003g0167 a0033c0050t0002g0190	4	196	0.0204	-12	c.102 others(31): Show c.1027-6460_1027-6449delCCTTCCTTCCTT		COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	11/34						chr7	TogoVar
COL2A1_chr12_47967967_48009476	47978636	GGGTCCAG others(5): Show GGGTCCAGCAGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18992.hp1 NA18992.hp1	a0015 a0015	a0015c0033 a0015c0033	a0015c0033t0002 a0015c0033t0002	a0015c0033t0002g0082 a0015c0033t0002g0082	1	414	0.0024	-12	c.284 others(21): Show c.2844_2855delTCCTGCTGGACC	p.Pro others(13): Show p.Pro949_Pro952del	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding	42/54	3010/5059	2844/4464	948/1487			chr12	TogoVar
COL2A1_chr12_47967967_48009476	47991839	GCTCTCTA others(5): Show GCTCTCTAATCCC	G G	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19055.hp1 NA19083.hp1 NA19010.hp1 NA19055.hp1 NA19083.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0050 a0004c0010t0001g0224 a0004c0010t0001g0050 a0004c0010t0001g0224	3	414	0.0073	-12	c.102 others(31): Show c.1023+1027_1023+1038delGGGATTAGAGAG		COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding	16/53						chr12	TogoVar
COL2A1_chr12_47967967_48009476	48008113	GAGAGAGA others(5): Show GAGAGAGAGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00733.hp2 others(16): Show HG00438.hp1 HG00621.hp1 HG00733.hp2 HG00735.hp1 HG01071.hp2 HG01175.hp1 HG01192.hp2 HG01433.hp2 HG01891.hp2 HG01993.hp2 HG02735.hp1 NA18957.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18988.hp2 NA18992.hp2 NA19030.hp1 NA19056.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0012	a0001c0002 a0001c0006 a0004c0010 others(3): Show a0001c0002 a0001c0006 a0004c0010 a0005c0011 a0006c0037 a0012c0036	a0001c0002t0001 a0001c0006t0001 a0004c0010t0001 others(3): Show a0001c0002t0001 a0001c0006t0001 a0004c0010t0001 a0005c0011t0001 a0006c0037t0004 a0012c0036t0001	a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0019 others(11): Show a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0019 a0001c0002t0001g0038 a0001c0002t0001g0142 a0001c0002t0001g0150 a0001c0002t0001g0161 a0001c0002t0001g0181 a0001c0006t0001g0003 a0004c0010t0001g0037 a0005c0011t0001g0008 a0005c0011t0001g0178 a0006c0037t0004g0158 a0012c0036t0001g0153	19	414	0.0459	-12	c.-38 others(23): Show c.-3804_-3793delTTCTCTCTCTCT		COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding					3638		chr12	TogoVar
COL2A1_chr12_47967967_48009476	48008117	GAGAGAGA others(5): Show GAGAGAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02896.hp2 HG00597.hp1 HG02896.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0016 a0001c0002 a0003c0016	a0001c0002t0001 a0003c0016t0001 a0001c0002t0001 a0003c0016t0001	a0001c0002t0001g0171 a0003c0016t0001g0115 a0001c0002t0001g0171 a0003c0016t0001g0115	2	414	0.0048	-12	c.-38 others(23): Show c.-3808_-3797delTTCTTTCTCTCT		COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding					3642		chr12	TogoVar
COL2A1_chr12_47967967_48009476	48008580	GTTCAGAC others(5): Show GTTCAGACAGTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02886.hp1 HG02622.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0184 a0001c0003t0001g0135 a0001c0003t0001g0184	2	414	0.0048	-12	c.-42 others(23): Show c.-4271_-4260delAGACTGTCTGAA		COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding					4105		chr12	TogoVar
COL3A1_chr2_188969373_189017746	189007096	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02886.hp2 NA19088.hp1 others(1): Show HG01069.hp2 HG02886.hp2 NA19088.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0231 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0231 a0001c0001t0001g0293	4	376	0.0106	-12	c.325 others(29): Show c.3255+139_3255+150delATATATATATAT		COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	44/50					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	189007161	TGATAGAT others(5): Show TGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG01256.hp2 others(23): Show HG00323.hp2 HG00621.hp2 HG01256.hp2 HG01517.hp1 HG02135.hp2 HG02258.hp1 HG02559.hp2 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG03209.hp2 HG03486.hp2 HG03927.hp1 NA18612.hp2 NA18948.hp1 NA18989.hp1 NA19003.hp2 NA19010.hp2 NA19030.hp1 NA19056.hp1 NA19063.hp1 NA19081.hp1 NA19088.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0003t0002 a0001c0003t0004 others(4): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0002 a0002c0002t0001 a0002c0002t0002 a0003c0005t0002	a0001c0001t0001g0050 a0001c0001t0001g0153 a0001c0001t0001g0154 others(22): Show a0001c0001t0001g0050 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0205 a0001c0003t0002g0233 a0001c0003t0002g0235 a0001c0003t0002g0238 a0001c0003t0002g0239 a0001c0003t0002g0243 a0001c0003t0002g0305 a0001c0003t0004g0075 a0001c0004t0002g0145 a0002c0002t0001g0030 a0002c0002t0001g0253 a0002c0002t0001g0257 a0002c0002t0001g0260 a0002c0002t0001g0262 a0002c0002t0001g0265 a0002c0002t0002g0268 a0002c0002t0002g0318 a0002c0002t0002g0324 a0003c0005t0002g0142	26	376	0.0692	-12	c.325 others(29): Show c.3255+210_3255+221delTAGATAGATAGA		COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	44/50					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A1_chr13_110143963_110312157	110145379	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG02965.hp2 HG02976.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0179 a0003c0012t0001g0180 a0003c0012t0001g0179 a0003c0012t0001g0180	2	344	0.0058	-12	c.49 others(23): Show c.4972_*4983delTTTTTTTTTTTT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding					3583		chr13	TogoVar
COL4A1_chr13_110143963_110312157	110184695	TGTGTGTG others(5): Show TGTGTGTGTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0001 a0001c0052t0001	a0001c0052t0001g0149 a0001c0052t0001g0149	1	344	0.0029	-12	c.189 others(31): Show c.1898-1431_1898-1420delCAAAACACACAC		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	26/51						chr13	TogoVar
COL4A1_chr13_110143963_110312157	110227415	CACACACA others(5): Show CACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0333 a0003c0008t0002g0333	1	344	0.0029	-12	c.145 others(31): Show c.145-13412_145-13401delTTGTGTGTGTGT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51						chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509262	TATATATA others(5): Show TATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0111 a0002c0111	a0002c0111t0015 a0002c0111t0015	a0002c0111t0015g0368 a0002c0111t0015g0368	1	372	0.0027	-12	c.488 others(31): Show c.4881+1043_4881+1054delTATATATACACA		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509264	TATATATA others(5): Show TATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0080 a0001c0005t0003g0080	1	372	0.0027	-12	c.488 others(31): Show c.4881+1045_4881+1056delTATATACACACA		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509266	TATATACA others(5): Show TATATACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0339 a0001c0025t0002g0339	1	372	0.0027	-12	c.488 others(31): Show c.4881+1047_4881+1058delTATACACACACA		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227172581	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03579.hp1 HG03098.hp1 HG03579.hp1	a0018 a0018	a0018c0028 a0018c0028	a0018c0028t0001 a0018c0028t0003 a0018c0028t0001 a0018c0028t0003	a0018c0028t0001g0013 a0018c0028t0003g0012 a0018c0028t0001g0013 a0018c0028t0003g0012	2	344	0.0058	-12	c.87+ others(27): Show c.87+7781_87+7792delTTTTTTTTTTTT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227179378	GAGACTTA others(5): Show GAGACTTAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp1 HG06807.hp2 HG02258.hp1 HG02723.hp1 HG06807.hp2	a0003 a0012 a0003 a0012	a0003c0011 a0012c0017 a0003c0011 a0012c0017	a0003c0011t0001 a0003c0011t0022 a0012c0017t0006 a0003c0011t0001 a0003c0011t0022 a0012c0017t0006	a0003c0011t0001g0002 a0003c0011t0022g0001 a0012c0017t0006g0003 a0003c0011t0001g0002 a0003c0011t0022g0001 a0012c0017t0006g0003	3	344	0.0087	-12	c.87+ others(29): Show c.87+14568_87+14579delACTTAAAAAAAG		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227193739	GGGAGGGA others(5): Show GGGAGGGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00558.hp1 others(80): Show HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01978.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02738.hp2 HG03041.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18968.hp2 NA18972.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18992.hp2 NA19000.hp2 NA19010.hp1 NA19058.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19085.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0017	a0001c0001 a0001c0042 a0002c0004 others(18): Show a0001c0001 a0001c0042 a0002c0004 a0002c0027 a0003c0002 a0003c0011 a0003c0039 a0004c0003 a0005c0005 a0006c0010 a0006c0013 a0006c0016 a0007c0006 a0008c0009 a0009c0008 a0010c0018 a0011c0021 a0012c0017 a0013c0015 a0014c0037 a0017c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0042t0015 a0002c0004t0001 a0002c0004t0003 a0002c0027t0012 a0003c0002t0001 a0003c0002t0003 a0003c0002t0004 a0003c0011t0001 a0003c0011t0003 a0003c0011t0009 a0003c0039t0010 a0004c0003t0003 a0004c0003t0004 a0005c0005t0007 a0006c0010t0003 a0006c0013t0001 a0006c0016t0018 a0007c0006t0005 a0008c0009t0001 a0009c0008t0001 a0010c0018t0002 a0011c0021t0003 a0012c0017t0001 a0013c0015t0002 a0014c0037t0002 a0017c0019t0004	a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0034 others(80): Show a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0184 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0284 a0001c0001t0002g0084 a0001c0001t0002g0140 a0001c0001t0002g0228 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0307 a0001c0001t0002g0318 a0001c0001t0002g0344 a0001c0001t0003g0274 a0001c0042t0015g0331 a0002c0004t0001g0168 a0002c0004t0003g0124 a0002c0004t0003g0125 a0002c0027t0012g0011 a0003c0002t0001g0229 a0003c0002t0001g0263 a0003c0002t0001g0299 a0003c0002t0003g0088 a0003c0002t0003g0089 a0003c0002t0003g0107 a0003c0002t0003g0123 a0003c0002t0003g0160 a0003c0002t0003g0174 a0003c0002t0003g0175 a0003c0002t0003g0182 a0003c0002t0003g0220 a0003c0002t0003g0314 a0003c0002t0004g0273 a0003c0011t0001g0002 a0003c0011t0003g0010 a0003c0011t0003g0337 a0003c0011t0009g0102 a0003c0039t0010g0005 a0004c0003t0003g0031 a0004c0003t0004g0155 a0004c0003t0004g0201 a0004c0003t0004g0213 a0004c0003t0004g0296 a0005c0005t0007g0109 a0006c0010t0003g0095 a0006c0010t0003g0245 a0006c0013t0001g0096 a0006c0016t0018g0036 a0007c0006t0005g0169 a0007c0006t0005g0199 a0007c0006t0005g0200 a0007c0006t0005g0297 a0007c0006t0005g0306 a0008c0009t0001g0029 a0008c0009t0001g0106 a0008c0009t0001g0183 a0008c0009t0001g0241 a0008c0009t0001g0285 a0009c0008t0001g0077 a0009c0008t0001g0110 a0009c0008t0001g0208 a0009c0008t0001g0270 a0010c0018t0002g0202 a0011c0021t0003g0323 a0012c0017t0001g0112 a0013c0015t0002g0258 a0014c0037t0002g0196 a0017c0019t0004g0181	83	344	0.2413	-12	c.87+ others(29): Show c.87+28930_87+28941delGGGAGGGAAGGA		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr2	TogoVar

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