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
COL23A1_chr5_178232618_178595393	178403108	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	236	0.0042	16	c.362 others(35): Show c.362-96190_362-96189insATTTTTTTTTTTTTTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178472579	G G	GCAGCATC others(9): Show GCAGCATCCATGGGTGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG01358.hp2 others(41): Show HG00280.hp2 HG01167.hp2 HG01358.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02109.hp2 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02630.hp2 HG02647.hp2 HG02735.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 NA18522.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18973.hp2 NA18999.hp1 NA19065.hp1 NA19240.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0012	a0001c0001 a0001c0004 a0002c0002 others(8): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0009 a0002c0022 a0003c0005 a0003c0007 a0004c0006 a0009c0016 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0002c0002t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0009t0008 a0002c0022t0009 a0003c0005t0002 a0003c0007t0001 a0004c0006t0004 a0009c0016t0002 a0012c0012t0002	a0001c0001t0001g0076 a0001c0001t0001g0199 a0001c0001t0002g0079 others(41): Show a0001c0001t0001g0076 a0001c0001t0001g0199 a0001c0001t0002g0079 a0001c0001t0002g0153 a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0189 a0001c0001t0003g0123 a0001c0001t0003g0142 a0001c0001t0003g0166 a0001c0001t0003g0170 a0001c0001t0003g0183 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0004g0087 a0001c0001t0004g0200 a0001c0001t0005g0161 a0001c0001t0005g0216 a0001c0004t0001g0094 a0001c0004t0002g0120 a0001c0004t0005g0059 a0001c0004t0005g0105 a0002c0002t0001g0026 a0002c0002t0001g0064 a0002c0002t0001g0096 a0002c0002t0001g0141 a0002c0003t0002g0097 a0002c0003t0002g0138 a0002c0003t0002g0140 a0002c0003t0002g0211 a0002c0003t0003g0169 a0002c0003t0005g0115 a0002c0003t0005g0131 a0002c0009t0008g0235 a0002c0022t0009g0233 a0003c0005t0002g0061 a0003c0005t0002g0163 a0003c0007t0001g0012 a0003c0007t0001g0044 a0003c0007t0001g0154 a0004c0006t0004g0135 a0004c0006t0004g0136 a0009c0016t0002g0108 a0012c0012t0002g0162	44	236	0.1864	16	c.361 others(35): Show c.361+88087_361+88102dupGCACCCATGGATGCTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178517558	T T	TTTTTTTT others(9): Show TTTTTTTTTTTTTCTTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00621.hp2 others(79): Show HG00280.hp2 HG00558.hp1 HG00621.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18945.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18959.hp1 NA18964.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19063.hp1 NA19065.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0001c0004 a0002c0002 others(8): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0022 a0003c0005 a0003c0007 a0004c0006 a0005c0008 a0005c0015 a0008c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0002c0002t0001 a0002c0002t0002 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0022t0009 a0003c0005t0003 a0003c0007t0001 a0004c0006t0003 a0004c0006t0004 a0005c0008t0002 a0005c0015t0002 a0008c0018t0003	a0001c0001t0001g0076 a0001c0001t0002g0049 a0001c0001t0002g0079 others(79): Show a0001c0001t0001g0076 a0001c0001t0002g0049 a0001c0001t0002g0079 a0001c0001t0002g0153 a0001c0001t0002g0175 a0001c0001t0002g0189 a0001c0001t0002g0202 a0001c0001t0003g0159 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0037 a0001c0001t0004g0041 a0001c0001t0004g0071 a0001c0001t0004g0084 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0164 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0218 a0001c0001t0005g0072 a0001c0001t0005g0078 a0001c0001t0005g0133 a0001c0001t0005g0222 a0001c0001t0006g0230 a0001c0004t0001g0094 a0001c0004t0004g0110 a0001c0004t0005g0059 a0001c0004t0005g0060 a0001c0004t0005g0105 a0002c0002t0001g0015 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0040 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0086 a0002c0002t0001g0176 a0002c0002t0001g0186 a0002c0002t0002g0149 a0002c0003t0002g0089 a0002c0003t0002g0121 a0002c0003t0003g0088 a0002c0003t0003g0126 a0002c0003t0003g0158 a0002c0003t0003g0169 a0002c0003t0003g0195 a0002c0003t0004g0192 a0002c0003t0004g0221 a0002c0003t0005g0068 a0002c0003t0005g0092 a0002c0003t0005g0115 a0002c0022t0009g0233 a0003c0005t0003g0010 a0003c0005t0003g0127 a0003c0005t0003g0145 a0003c0005t0003g0217 a0003c0007t0001g0044 a0003c0007t0001g0102 a0003c0007t0001g0103 a0004c0006t0003g0130 a0004c0006t0003g0139 a0004c0006t0003g0143 a0004c0006t0004g0135 a0004c0006t0004g0136 a0005c0008t0002g0053 a0005c0008t0002g0090 a0005c0008t0002g0187 a0005c0015t0002g0017 a0008c0018t0003g0215	82	236	0.3475	16	c.361 others(35): Show c.361+43123_361+43124insCAAGAAAAAAAAAAAA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178517559	T T	TTTTTTTT others(9): Show TTTTTTTTTTTTTCTTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp2 HG03209.hp1 others(2): Show HG02572.hp1 HG02886.hp2 HG03209.hp1 HG03540.hp1 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0009 others(1): Show a0001c0001 a0002c0003 a0002c0009 a0003c0005	a0001c0001t0003 a0001c0001t0005 a0002c0003t0005 others(2): Show a0001c0001t0003 a0001c0001t0005 a0002c0003t0005 a0002c0009t0008 a0003c0005t0002	a0001c0001t0003g0006 a0001c0001t0005g0161 a0002c0003t0005g0146 others(2): Show a0001c0001t0003g0006 a0001c0001t0005g0161 a0002c0003t0005g0146 a0002c0009t0008g0235 a0003c0005t0002g0061	5	236	0.0212	16	c.361 others(35): Show c.361+43122_361+43123insCAAGAAAAAAAAAAAA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178523201	T T	TATATATA others(9): Show TATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA20805.hp1 HG01071.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0098 a0001c0001t0005g0095 a0001c0001t0004g0098 a0001c0001t0005g0095	2	236	0.0085	16	c.361 others(35): Show c.361+37480_361+37481insCTCTCTCTCTATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178523201	T T	TATATATA others(9): Show TATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0137 a0003c0007t0001g0137	1	236	0.0042	16	c.361 others(35): Show c.361+37480_361+37481insCTCTCTCTATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178523201	T T	TATATATA others(9): Show TATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0038 a0002c0002t0011g0038	1	236	0.0042	16	c.361 others(35): Show c.361+37480_361+37481insCTCTCTATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178548012	C C	CACACACC others(9): Show CACACACCCACCCACAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(139): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012	a0001c0001 a0001c0004 a0002c0002 others(13): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0009 a0002c0022 a0003c0005 a0003c0007 a0004c0006 a0005c0008 a0005c0015 a0006c0020 a0008c0018 a0009c0016 a0010c0017 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0008 a0002c0009t0006 a0002c0022t0009 a0003c0005t0002 a0003c0005t0003 a0003c0005t0005 a0003c0007t0001 a0004c0006t0003 a0004c0006t0004 a0005c0008t0002 a0005c0015t0002 a0006c0020t0012 a0008c0018t0003 a0009c0016t0002 a0010c0017t0003 a0012c0012t0002	a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0001g0199 others(139): Show a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0001g0199 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0148 a0001c0001t0002g0153 a0001c0001t0002g0189 a0001c0001t0002g0202 a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0159 a0001c0001t0003g0166 a0001c0001t0003g0170 a0001c0001t0003g0182 a0001c0001t0003g0196 a0001c0001t0003g0214 a0001c0001t0004g0011 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0054 a0001c0001t0004g0065 a0001c0001t0004g0069 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0004g0098 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0164 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0009 a0001c0001t0005g0113 a0001c0001t0005g0133 a0001c0001t0005g0144 a0001c0001t0005g0147 a0001c0001t0005g0207 a0001c0001t0005g0216 a0001c0001t0005g0222 a0001c0001t0007g0008 a0001c0004t0001g0007 a0001c0004t0001g0042 a0001c0004t0001g0094 a0001c0004t0002g0120 a0001c0004t0004g0023 a0001c0004t0004g0110 a0001c0004t0004g0223 a0001c0004t0005g0059 a0001c0004t0005g0060 a0001c0004t0005g0105 a0002c0002t0001g0001 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0020 a0002c0002t0001g0025 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0001g0064 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0096 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0186 a0002c0002t0001g0191 a0002c0002t0001g0198 a0002c0002t0001g0219 a0002c0002t0002g0149 a0002c0002t0011g0038 a0002c0003t0001g0004 a0002c0003t0001g0129 a0002c0003t0002g0034 a0002c0003t0002g0121 a0002c0003t0002g0138 a0002c0003t0002g0206 a0002c0003t0002g0209 a0002c0003t0003g0157 a0002c0003t0003g0169 a0002c0003t0003g0195 a0002c0003t0004g0099 a0002c0003t0004g0100 a0002c0003t0004g0192 a0002c0003t0004g0205 a0002c0003t0004g0221 a0002c0003t0006g0229 a0002c0003t0008g0231 a0002c0009t0006g0232 a0002c0022t0009g0233 a0003c0005t0002g0005 a0003c0005t0002g0163 a0003c0005t0003g0127 a0003c0005t0003g0145 a0003c0005t0003g0156 a0003c0005t0005g0208 a0003c0007t0001g0013 a0003c0007t0001g0030 a0003c0007t0001g0044 a0003c0007t0001g0102 a0003c0007t0001g0103 a0003c0007t0001g0137 a0003c0007t0001g0154 a0004c0006t0003g0130 a0004c0006t0003g0139 a0004c0006t0003g0143 a0004c0006t0004g0135 a0005c0008t0002g0003 a0005c0008t0002g0050 a0005c0008t0002g0053 a0005c0008t0002g0155 a0005c0008t0002g0187 a0005c0015t0002g0017 a0006c0020t0012g0085 a0008c0018t0003g0215 a0009c0016t0002g0108 a0010c0017t0003g0018 a0012c0012t0002g0162	142	236	0.6017	16	c.361 others(35): Show c.361+12654_361+12669dupTTGTGGGTGGGTGTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178548039	C C	CCACAAAC others(9): Show CCACAAACACACCCACT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01934.hp1 HG02622.hp1 others(4): Show HG00280.hp1 HG01934.hp1 HG02622.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp1 NA20805.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0011	a0002c0002 a0003c0005 a0003c0007 others(2): Show a0002c0002 a0003c0005 a0003c0007 a0004c0011 a0011c0013	a0002c0002t0001 a0003c0005t0002 a0003c0005t0003 others(3): Show a0002c0002t0001 a0003c0005t0002 a0003c0005t0003 a0003c0007t0001 a0004c0011t0001 a0011c0013t0005	a0002c0002t0001g0026 a0003c0005t0002g0168 a0003c0005t0002g0171 others(4): Show a0002c0002t0001g0026 a0003c0005t0002g0168 a0003c0005t0002g0171 a0003c0005t0003g0220 a0003c0007t0001g0012 a0004c0011t0001g0093 a0011c0013t0005g0132	7	236	0.0297	16	c.361 others(35): Show c.361+12642_361+12643insAGTGGGTGTGTTTGTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562736	T T	TGGGGGGG others(9): Show TGGGGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0156 a0003c0005t0003g0156	1	236	0.0042	16	c.295 others(33): Show c.295-1989_295-1988insTCCCCCCCCCCCCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562736	T T	TGGGGGGG others(9): Show TGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03491.hp1 HG02922.hp1 HG03491.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0006 a0004c0006t0004 a0001c0001t0006 a0004c0006t0004	a0001c0001t0006g0226 a0004c0006t0004g0136 a0001c0001t0006g0226 a0004c0006t0004g0136	2	236	0.0085	16	c.295 others(33): Show c.295-1989_295-1988insCCCCCCCCCCCCCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178572067	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0229 a0002c0003t0006g0229	1	236	0.0042	16	c.295 others(35): Show c.295-11320_295-11319insTTTTTTTTTTTTTTTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85771778	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG04228.hp1 HG06807.hp2 HG02015.hp1 HG04228.hp1 HG06807.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0066 a0005c0072 a0007c0076 a0001c0066 a0005c0072 a0007c0076	a0001c0066t0001 a0005c0072t0001 a0007c0076t0001 a0001c0066t0001 a0005c0072t0001 a0007c0076t0001	a0001c0066t0001g0137 a0005c0072t0001g0191 a0007c0076t0001g0236 a0001c0066t0001g0137 a0005c0072t0001g0191 a0007c0076t0001g0236	3	238	0.0126	16	c.437 others(35): Show c.4374+3880_4374+3895dupTAAATAAATAAATAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	53/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85778023	C C	CTCTATCT others(9): Show CTCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01496.hp1 HG02074.hp2 others(5): Show HG00423.hp2 HG01496.hp1 HG02074.hp2 HG03710.hp2 NA18951.hp2 NA18974.hp1 NA19090.hp1 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0008 a0011 a0012 a0022 a0027	a0001c0001 a0002c0003 a0003c0007 others(5): Show a0001c0001 a0002c0003 a0003c0007 a0008c0006 a0011c0015 a0012c0012 a0022c0030 a0027c0035	a0001c0001t0001 a0002c0003t0016 a0003c0007t0002 others(5): Show a0001c0001t0001 a0002c0003t0016 a0003c0007t0002 a0008c0006t0001 a0011c0015t0001 a0012c0012t0002 a0022c0030t0006 a0027c0035t0015	a0001c0001t0001g0193 a0002c0003t0016g0227 a0003c0007t0002g0079 others(5): Show a0001c0001t0001g0193 a0002c0003t0016g0227 a0003c0007t0002g0079 a0008c0006t0001g0050 a0011c0015t0001g0028 a0012c0012t0002g0135 a0022c0030t0006g0003 a0027c0035t0015g0029	8	238	0.0336	16	c.433 others(35): Show c.4339-2330_4339-2315dupTAGATAGATAGATAGA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	52/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAAAAA others(9): Show AAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03471.hp2 HG02572.hp1 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0147 a0002c0003t0003g0225 a0002c0003t0003g0147 a0002c0003t0003g0225	2	238	0.0084	16	c.395 others(37): Show c.3952-12751_3952-12750insCTTTCTTTCTTTTTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp2 HG03139.hp2 others(2): Show HG01891.hp2 HG02809.hp2 HG03139.hp2 HG03225.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0002c0011 a0001c0005 a0002c0003 a0002c0011	a0001c0005t0003 a0002c0003t0004 a0002c0011t0003 a0001c0005t0003 a0002c0003t0004 a0002c0011t0003	a0001c0005t0003g0207 a0001c0005t0003g0218 a0002c0003t0004g0216 others(2): Show a0001c0005t0003g0207 a0001c0005t0003g0218 a0002c0003t0004g0216 a0002c0011t0003g0211 a0002c0011t0003g0212	5	238	0.0210	16	c.395 others(37): Show c.3952-12766_3952-12751dupCTTTCTTTCTTTCTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85813532	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0006 a0006	a0006c0047 a0006c0047	a0006c0047t0005 a0006c0047t0005	a0006c0047t0005g0010 a0006c0047t0005g0010	1	238	0.0042	16	c.395 others(35): Show c.3951+3240_3951+3255dupAAAAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85858621	C C	CTCCCTCC others(9): Show CTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG01515.hp2 others(5): Show HG01071.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG02055.hp2 HG03540.hp1 NA18986.hp1 NA19057.hp1	a0002 a0004 a0007 others(2): Show a0002 a0004 a0007 a0009 a0016	a0002c0003 a0004c0002 a0007c0014 others(2): Show a0002c0003 a0004c0002 a0007c0014 a0009c0008 a0016c0021	a0002c0003t0001 a0002c0003t0016 a0004c0002t0002 others(3): Show a0002c0003t0001 a0002c0003t0016 a0004c0002t0002 a0007c0014t0001 a0009c0008t0002 a0016c0021t0001	a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0016g0227 others(5): Show a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0016g0227 a0004c0002t0002g0214 a0007c0014t0001g0221 a0009c0008t0002g0102 a0016c0021t0001g0021 a0016c0021t0001g0022	8	238	0.0336	16	c.330 others(35): Show c.3301-9216_3301-9215insAGGAAGGAAGGAGGGA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	37/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85858621	C C	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0061 a0006c0061	a0006c0061t0003 a0006c0061t0003	a0006c0061t0003g0232 a0006c0061t0003g0232	1	238	0.0042	16	c.330 others(35): Show c.3301-9231_3301-9216dupAGGAAGGAAGGAAGGA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	37/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85858624	C C	CTTCCTTC others(9): Show CTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG02074.hp1 others(9): Show HG00639.hp2 HG01071.hp1 HG02074.hp1 HG02145.hp2 HG02165.hp1 HG02273.hp2 HG03098.hp1 HG03654.hp2 NA18906.hp1 NA18955.hp1 NA19064.hp1 NA19065.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0033 a0035 a0047	a0001c0001 a0002c0003 a0003c0007 others(7): Show a0001c0001 a0002c0003 a0003c0007 a0004c0002 a0005c0004 a0008c0006 a0010c0009 a0033c0045 a0035c0054 a0047c0073	a0001c0001t0002 a0002c0003t0002 a0003c0007t0002 others(7): Show a0001c0001t0002 a0002c0003t0002 a0003c0007t0002 a0004c0002t0004 a0005c0004t0001 a0008c0006t0002 a0010c0009t0001 a0033c0045t0005 a0035c0054t0004 a0047c0073t0002	a0001c0001t0002g0126 a0001c0001t0002g0162 a0002c0003t0002g0146 others(9): Show a0001c0001t0002g0126 a0001c0001t0002g0162 a0002c0003t0002g0146 a0003c0007t0002g0085 a0004c0002t0004g0206 a0005c0004t0001g0040 a0008c0006t0002g0047 a0010c0009t0001g0031 a0010c0009t0001g0044 a0033c0045t0005g0008 a0035c0054t0004g0097 a0047c0073t0002g0177	12	238	0.0504	16	c.330 others(35): Show c.3301-9219_3301-9218insAGAAGGAAGGAAGGAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	37/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85885397	A A	ATATATAT others(9): Show ATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	238	0.0042	16	c.297 others(35): Show c.2976+4162_2976+4163insAAAAAAAATATATATA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	32/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85906264	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01099.hp2 others(15): Show HG00642.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01255.hp1 HG01981.hp2 HG02055.hp2 HG02074.hp2 HG02257.hp2 HG03098.hp1 HG03130.hp1 HG04228.hp1 NA18946.hp2 NA18974.hp1 NA18978.hp2 NA18981.hp1 NA18985.hp1 NA18990.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0027 a0029 a0041	a0001c0001 a0002c0003 a0003c0016 others(8): Show a0001c0001 a0002c0003 a0003c0016 a0004c0002 a0005c0004 a0005c0072 a0008c0006 a0009c0008 a0027c0035 a0029c0040 a0041c0041	a0001c0001t0001 a0001c0001t0002 a0002c0003t0002 others(12): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0002 a0003c0016t0001 a0003c0016t0005 a0003c0016t0006 a0004c0002t0001 a0004c0002t0002 a0005c0004t0001 a0005c0072t0001 a0008c0006t0001 a0009c0008t0002 a0027c0035t0015 a0029c0040t0013 a0041c0041t0004	a0001c0001t0001g0193 a0001c0001t0002g0126 a0001c0001t0002g0155 others(15): Show a0001c0001t0001g0193 a0001c0001t0002g0126 a0001c0001t0002g0155 a0002c0003t0002g0141 a0003c0016t0001g0170 a0003c0016t0005g0012 a0003c0016t0006g0013 a0004c0002t0001g0127 a0004c0002t0001g0153 a0004c0002t0002g0209 a0004c0002t0002g0214 a0005c0004t0001g0121 a0005c0072t0001g0191 a0008c0006t0001g0054 a0009c0008t0002g0104 a0027c0035t0015g0029 a0029c0040t0013g0019 a0041c0041t0004g0148	18	238	0.0756	16	c.277 others(33): Show c.2778+929_2778+930insAAAAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	28/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85945000	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20300.hp1 HG01891.hp1 NA20300.hp1	a0004 a0023 a0004 a0023	a0004c0002 a0023c0025 a0004c0002 a0023c0025	a0004c0002t0007 a0023c0025t0004 a0004c0002t0007 a0023c0025t0004	a0004c0002t0007g0004 a0023c0025t0004g0234 a0004c0002t0007g0004 a0023c0025t0004g0234	2	238	0.0084	16	c.256 others(37): Show c.2562+16248_2562+16249insAAAAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	24/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997041	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0050 a0050	a0050c0077 a0050c0077	a0050c0077t0001 a0050c0077t0001	a0050c0077t0001g0197 a0050c0077t0001g0197	1	238	0.0042	16	c.231 others(35): Show c.2311-9388_2311-9387insCACACACACACACACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	86097489	C C	CCCTCCTC others(9): Show CCCTCCTCCTCCTCCCT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19074.hp1 NA19064.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0118 a0001c0001t0002g0117 a0001c0001t0001g0118 a0001c0001t0002g0117	2	238	0.0084	16	c.160 others(35): Show c.1600-5170_1600-5169insAGGGAGGAGGAGGAGG	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108809209	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0073 a0001c0002t0022g0073	1	130	0.0077	16	c.47 others(27): Show c.4717_*4718insAAAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	38/38	4717		chr4	TogoVar
COL25A1_chr4_108803725_109307658	108822043	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG01891.hp2 others(6): Show HG01167.hp1 HG01167.hp2 HG01891.hp2 HG01993.hp1 HG02071.hp1 HG03704.hp1 NA18952.hp2 NA19079.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0001c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0020 a0001c0001t0027 a0001c0004t0029 a0001c0007t0018 a0001c0009t0002	a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0003g0005 others(6): Show a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0003g0005 a0001c0001t0007g0090 a0001c0001t0020g0035 a0001c0001t0027g0086 a0001c0004t0029g0095 a0001c0007t0018g0015 a0001c0009t0002g0097	9	130	0.0692	16	c.184 others(35): Show c.1845+2115_1845+2130dupAAAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	35/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108832973	T T	TAATAAAT others(9): Show TAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00558.hp2 others(24): Show HG00140.hp1 HG00323.hp1 HG00558.hp2 HG00735.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01346.hp2 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG02056.hp2 HG02165.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02976.hp2 HG03471.hp2 NA18952.hp1 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 others(14): Show a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0021 a0001c0002t0022 a0001c0002t0025 a0001c0003t0001 a0001c0003t0004 a0001c0003t0008 a0001c0003t0023 a0001c0004t0001	a0001c0001t0006g0051 a0001c0002t0001g0093 a0001c0002t0001g0101 others(24): Show a0001c0001t0006g0051 a0001c0002t0001g0093 a0001c0002t0001g0101 a0001c0002t0003g0010 a0001c0002t0004g0011 a0001c0002t0004g0028 a0001c0002t0004g0031 a0001c0002t0007g0115 a0001c0002t0008g0060 a0001c0002t0008g0087 a0001c0002t0009g0006 a0001c0002t0009g0029 a0001c0002t0010g0013 a0001c0002t0010g0030 a0001c0002t0013g0067 a0001c0002t0013g0070 a0001c0002t0021g0082 a0001c0002t0022g0073 a0001c0002t0025g0050 a0001c0003t0001g0053 a0001c0003t0001g0107 a0001c0003t0004g0001 a0001c0003t0004g0026 a0001c0003t0008g0036 a0001c0003t0023g0127 a0001c0004t0001g0040 a0001c0004t0001g0043	27	130	0.2077	16	c.165 others(33): Show c.1657-556_1657-541dupTATTTATTTATTTATT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	31/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108832978	A A	AATAAATA others(9): Show AATAAATAAATAAATAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18522.hp2 NA19030.hp1 HG02622.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0005 a0001c0002t0001 a0001c0005t0005	a0001c0002t0001g0098 a0001c0002t0001g0110 a0001c0005t0005g0122 a0001c0002t0001g0098 a0001c0002t0001g0110 a0001c0005t0005g0122	3	130	0.0231	16	c.165 others(33): Show c.1657-546_1657-545insGTATTTATTTATTTAT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	31/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108886492	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02165.hp1 HG02165.hp2 HG01981.hp1 HG02165.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0004 a0001c0001t0003 a0001c0001t0004 a0001c0002t0004	a0001c0001t0003g0020 a0001c0001t0004g0004 a0001c0002t0004g0011 a0001c0001t0003g0020 a0001c0001t0004g0004 a0001c0002t0004g0011	3	130	0.0231	16	c.976 others(33): Show c.976-2271_976-2270insAAAACACACACACACA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	18/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108899011	A A	ATATCTAT others(9): Show ATATCTATATATCTATC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0078 a0001c0001t0005g0078	1	130	0.0077	16	c.861 others(31): Show c.861+142_861+143insGATAGATATATAGATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	15/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108913261	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp2 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0005 a0001c0002t0001g0089 a0001c0001t0003g0005 a0001c0002t0001g0089	2	130	0.0154	16	c.780 others(33): Show c.780+4895_780+4910dupAAAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	13/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109019373	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01891.hp2 NA18941.hp1 others(1): Show HG01071.hp1 HG01891.hp2 NA18941.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0002 a0001c0002t0004 a0001c0004t0001 others(1): Show a0001c0001t0002 a0001c0002t0004 a0001c0004t0001 a0001c0007t0018	a0001c0001t0002g0091 a0001c0002t0004g0024 a0001c0004t0001g0128 others(1): Show a0001c0001t0002g0091 a0001c0002t0004g0024 a0001c0004t0001g0128 a0001c0007t0018g0015	4	130	0.0308	16	c.421 others(33): Show c.421-8999_421-8998insATATATATATATATAT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	5/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109026100	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0078 a0001c0001t0005g0078	1	130	0.0077	16	c.421 others(35): Show c.421-15741_421-15726dupTGTGTGTGTGTGTGTG	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	5/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109137984	A A	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02293.hp2 HG02602.hp1 others(4): Show HG02071.hp1 HG02293.hp2 HG02602.hp1 HG03710.hp1 NA18998.hp1 NA19062.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0009t0002	a0001c0001t0002g0108 a0001c0001t0002g0116 a0001c0001t0003g0016 others(4): Show a0001c0001t0002g0108 a0001c0001t0002g0116 a0001c0001t0003g0016 a0001c0001t0007g0090 a0001c0001t0012g0096 a0001c0002t0001g0093 a0001c0009t0002g0097	7	130	0.0539	16	c.368 others(35): Show c.368-87806_368-87805insCACACACACACACATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109137984	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0046 a0001c0001t0026g0046	1	130	0.0077	16	c.368 others(35): Show c.368-87821_368-87806dupCACACACACACACACA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109198294	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	130	0.0077	16	c.367 others(37): Show c.367+102273_367+102288dupTGTGTGTGTGTGTGTG	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109250369	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02602.hp2 HG02723.hp2 others(2): Show HG02486.hp1 HG02602.hp2 HG02723.hp2 HG02886.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0011 a0001c0001 a0001c0002 a0002c0011	a0001c0001t0001 a0001c0001t0019 a0001c0002t0013 others(1): Show a0001c0001t0001 a0001c0001t0019 a0001c0002t0013 a0002c0011t0007	a0001c0001t0001g0080 a0001c0001t0001g0114 a0001c0001t0019g0023 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0114 a0001c0001t0019g0023 a0001c0002t0013g0067 a0002c0011t0007g0061	5	130	0.0385	16	c.367 others(35): Show c.367+50198_367+50213dupGTGTGTGTGTGTGTGT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109254469	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01346.hp1 HG01891.hp1 others(4): Show HG01071.hp1 HG01346.hp1 HG01891.hp1 HG03453.hp2 HG03710.hp1 NA18998.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0004t0001	a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0116 others(4): Show a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0116 a0001c0001t0006g0076 a0001c0002t0001g0110 a0001c0004t0001g0043 a0001c0004t0001g0128	7	130	0.0539	16	c.367 others(35): Show c.367+46098_367+46113dupTATATATATATATATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109254505	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01258.hp2 HG03492.hp2 HG00323.hp1 HG01258.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0028 a0001c0003t0023 a0001c0001t0002 a0001c0001t0028 a0001c0003t0023	a0001c0001t0002g0085 a0001c0001t0028g0084 a0001c0003t0023g0127 a0001c0001t0002g0085 a0001c0001t0028g0084 a0001c0003t0023g0127	3	130	0.0231	16	c.367 others(35): Show c.367+46077_367+46078insCATATATATATATATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109254505	A A	ATATATAT others(9): Show ATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	130	0.0077	16	c.367 others(35): Show c.367+46077_367+46078insCACATATATATATATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109254509	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	130	0.0077	16	c.367 others(35): Show c.367+46073_367+46074insCATATATATATATATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101363601	T T	TGGGGCCG others(9): Show TGGGGCCGCGGGGCCGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0108 a0001c0001t0011g0108	1	174	0.0058	16	c.158 others(31): Show c.158+424_158+425insCGCGGGGCCGCGGGGC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101386273	T T	TTTTTTTG others(9): Show TTTTTTTGTTTTTTTAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02109.hp2 HG02809.hp2 others(12): Show HG00621.hp2 HG02109.hp2 HG02809.hp2 HG03195.hp1 HG03209.hp2 NA18906.hp2 NA18960.hp1 NA18970.hp2 NA18984.hp2 NA18985.hp1 NA19005.hp2 NA19060.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(2): Show a0001c0001 a0001c0005 a0002c0003 a0002c0004 a0003c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0005t0002 a0001c0005t0011 a0002c0003t0001 a0002c0004t0030 a0003c0018t0019	a0001c0001t0001g0114 a0001c0001t0002g0111 a0001c0001t0002g0113 others(12): Show a0001c0001t0001g0114 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0163 a0001c0001t0002g0173 a0001c0001t0008g0115 a0001c0001t0009g0159 a0001c0005t0002g0160 a0001c0005t0011g0147 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0158 a0002c0003t0001g0164 a0002c0004t0030g0170 a0003c0018t0019g0005	15	174	0.0862	16	c.158 others(35): Show c.158+23089_158+23090insGTTTTTTTAATTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101387630	G G	GCTCTCTC others(9): Show GCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0147 a0001c0005t0011g0147	1	174	0.0058	16	c.158 others(35): Show c.158+24441_158+24456dupCTCTCTCTCTCTCTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101446046	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02280.hp1 HG02602.hp1 HG01168.hp2 HG02280.hp1 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0004 a0001c0001 a0001c0013 a0002c0004	a0001c0001t0005 a0001c0013t0010 a0002c0004t0024 a0001c0001t0005 a0001c0013t0010 a0002c0004t0024	a0001c0001t0005g0137 a0001c0013t0010g0039 a0002c0004t0024g0095 a0001c0001t0005g0137 a0001c0013t0010g0039 a0002c0004t0024g0095	3	174	0.0172	16	c.282 others(33): Show c.282-1629_282-1614dupAAAAAAAAAAAAAAAA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463644	A A	ATCCTTCC others(9): Show ATCCTTCCATCCTTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02615.hp2 others(12): Show HG01243.hp2 HG01884.hp2 HG02615.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG06807.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0003 others(2): Show a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0002c0007	a0001c0002t0006 a0001c0005t0002 a0001c0005t0005 others(4): Show a0001c0002t0006 a0001c0005t0002 a0001c0005t0005 a0001c0005t0008 a0002c0003t0001 a0002c0004t0001 a0002c0007t0004	a0001c0002t0006g0010 a0001c0005t0002g0149 a0001c0005t0002g0160 others(12): Show a0001c0002t0006g0010 a0001c0005t0002g0149 a0001c0005t0002g0160 a0001c0005t0005g0106 a0001c0005t0005g0144 a0001c0005t0005g0167 a0001c0005t0008g0128 a0002c0003t0001g0130 a0002c0003t0001g0143 a0002c0003t0001g0158 a0002c0004t0001g0131 a0002c0004t0001g0145 a0002c0004t0001g0171 a0002c0007t0004g0007 a0002c0007t0004g0009	15	174	0.0862	16	c.385 others(35): Show c.385+15872_385+15873insTTCCTTCCATCCTTCC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463868	C C	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18522.hp2 HG03139.hp2 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0103 a0002c0004t0001g0105 a0002c0004t0001g0103 a0002c0004t0001g0105	2	174	0.0115	16	c.385 others(35): Show c.385+16081_385+16082insCTTTCTTTCTTTCTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101463869	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00609.hp2 others(16): Show HG00140.hp2 HG00558.hp1 HG00609.hp2 HG01257.hp1 HG01258.hp1 HG02071.hp1 HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02922.hp2 HG03139.hp1 NA18963.hp2 NA18984.hp2 NA19054.hp1 NA19080.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0003 others(4): Show a0001c0001 a0001c0005 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0005t0002 a0002c0003t0001 a0002c0004t0001 a0002c0004t0030 a0002c0006t0004 a0002c0007t0004 a0004c0011t0003	a0001c0001t0001g0114 a0001c0001t0002g0062 a0001c0001t0002g0151 others(16): Show a0001c0001t0001g0114 a0001c0001t0002g0062 a0001c0001t0002g0151 a0001c0001t0005g0137 a0001c0001t0009g0159 a0001c0001t0015g0060 a0001c0005t0002g0155 a0002c0003t0001g0072 a0002c0003t0001g0119 a0002c0004t0001g0097 a0002c0004t0001g0129 a0002c0004t0001g0150 a0002c0004t0001g0157 a0002c0004t0030g0170 a0002c0006t0004g0011 a0002c0007t0004g0008 a0002c0007t0004g0053 a0004c0011t0003g0012 a0004c0011t0003g0038	19	174	0.1092	16	c.385 others(35): Show c.385+16102_385+16117dupCTTTCTTTCTTTCTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101466795	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	174	0.0058	16	c.385 others(35): Show c.385+19036_385+19051dupTGTGTGTGTGTGTGTG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar

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