Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNTN3_chr3_74257568_74619659	74460772	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG01109.hp1 others(31): Show HG00408.hp1 HG00408.hp2 HG01109.hp1 HG01255.hp1 HG01257.hp2 HG01943.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02965.hp1 HG03209.hp2 HG03486.hp2 HG04184.hp1 NA18951.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18977.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19085.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0010	a0001c0001 a0001c0002 a0001c0014 others(6): Show a0001c0001 a0001c0002 a0001c0014 a0001c0018 a0002c0004 a0002c0005 a0003c0007 a0009c0017 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0014t0013 a0001c0018t0001 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0002c0005t0005 a0002c0005t0006 a0003c0007t0007 a0009c0017t0001 a0010c0013t0003	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(31): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0140 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0003g0039 a0001c0001t0005g0154 a0001c0001t0005g0156 a0001c0001t0006g0144 a0001c0001t0008g0003 a0001c0002t0001g0107 a0001c0002t0001g0114 a0001c0002t0001g0120 a0001c0002t0002g0015 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0005g0152 a0001c0002t0005g0164 a0001c0002t0005g0166 a0001c0002t0009g0085 a0001c0014t0013g0057 a0001c0018t0001g0126 a0002c0004t0001g0101 a0002c0005t0001g0127 a0002c0005t0002g0043 a0002c0005t0002g0066 a0002c0005t0004g0121 a0002c0005t0005g0148 a0002c0005t0005g0158 a0002c0005t0006g0160 a0003c0007t0007g0073 a0009c0017t0001g0115 a0010c0013t0003g0027	34	174	0.1954	-32	c.358 others(51): Show c.358+25652_358+25683delATATATATATATATATATATATATAT ATATAT	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	4/22			chr3	TogoVar
CNTN6_chr3_1088024_1409217	1098759	CACACACA others(25): Show CACACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0232 a0002c0014t0001g0232	1	232	0.0043	-32	c.-83 others(49): Show c.-83+5641_-83+5672delCACACACACACACACACACACACACACA CATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1116793	TTCCCAGG others(25): Show TTCCCAGGTTCAAGCGATTCTCATAACTCAGTC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	232	0.0043	-32	c.-83 others(51): Show c.-83+23678_-83+23709delAGGTTCAAGCGATTCTCATAACTCAG TCTCCC	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146151666	ATATATAT others(25): Show ATATATATATATATATGTATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG02486.hp1 others(4): Show HG00735.hp2 HG01891.hp1 HG02486.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0019 a0004c0014	a0001c0001t0007 a0001c0002t0001 a0001c0003t0020 others(3): Show a0001c0001t0007 a0001c0002t0001 a0001c0003t0020 a0001c0011t0016 a0001c0019t0006 a0004c0014t0021	a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0002t0001g0021 others(4): Show a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0002t0001g0021 a0001c0003t0020g0017 a0001c0011t0016g0019 a0001c0019t0006g0015 a0004c0014t0021g0022	7	40	0.1750	-32	c.97+ others(49): Show c.97+34723_97+34754delATGTATATATATATATATGTATATATAT ATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146823187	ATATACTC others(25): Show ATATACTCATTCTTCAGTATATTTAAATATGAG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG02717.hp1 others(1): Show HG02451.hp2 HG02486.hp2 HG02717.hp1 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0017	a0001c0001t0002 a0001c0003t0011 a0001c0005t0008 others(1): Show a0001c0001t0002 a0001c0003t0011 a0001c0005t0008 a0002c0017t0015	a0001c0001t0002g0006 a0001c0003t0011g0023 a0001c0005t0008g0005 others(1): Show a0001c0001t0002g0006 a0001c0003t0011g0023 a0001c0005t0008g0005 a0002c0017t0015g0037	4	40	0.1000	-32	c.209 others(51): Show c.209-16496_209-16465delATGAGTATACTCATTCTTCAGTATAT TTAAAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146855807	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02486.hp1 NA21309.hp2 HG00735.hp2 HG02486.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0007 a0001c0001t0018 a0001c0019t0006 a0001c0001t0007 a0001c0001t0018 a0001c0019t0006	a0001c0001t0007g0020 a0001c0001t0018g0001 a0001c0019t0006g0015 a0001c0001t0007g0020 a0001c0001t0018g0001 a0001c0019t0006g0015	3	40	0.0750	-32	c.402 others(51): Show c.402+15918_402+15949delTATATATATATATATATATATATATA TATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147225774	GGAAGGAA others(25): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0023 a0001c0003t0011g0023	1	40	0.0250	-32	c.134 others(53): Show c.1349-74363_1349-74332delGGAAGGAAGGAAGGAAGGAAGGAA AGAAAGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147784494	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0001 a0002c0016t0004 a0001c0001t0001 a0002c0016t0004	a0001c0001t0001g0038 a0002c0016t0004g0024 a0001c0001t0001g0038 a0002c0016t0004g0024	2	40	0.0500	-32	c.209 others(55): Show c.2099-119046_2099-119015delATATATATATATATATATATAT ATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76397938	TTATATAC others(25): Show TTATATACATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02451.hp2 HG02895.hp1 others(4): Show HG02074.hp2 HG02451.hp2 HG02895.hp1 HG02897.hp2 HG03209.hp1 NA18970.hp2 NA19066.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0006 a0006c0009 a0001c0001 a0003c0006 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0003c0006t0006 a0006c0009t0001	a0001c0001t0001g0083 a0001c0001t0001g0196 a0001c0001t0003g0256 others(4): Show a0001c0001t0001g0083 a0001c0001t0001g0196 a0001c0001t0003g0256 a0001c0001t0015g0099 a0001c0001t0015g0272 a0003c0006t0006g0205 a0006c0009t0001g0251	7	274	0.0256	-32	c.391 others(51): Show c.391-29507_391-29476delCATATATATATATATATATATATATA TATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124194380	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01261.hp2 HG01891.hp1 others(17): Show HG00423.hp2 HG01261.hp2 HG01891.hp1 HG02257.hp2 HG02451.hp2 HG02723.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03471.hp1 NA19000.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0003 a0001c0001 a0001c0002 a0006c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0019 a0006c0003t0008	a0001c0001t0001g0010 a0001c0001t0002g0022 a0001c0001t0002g0023 others(17): Show a0001c0001t0001g0010 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0003g0006 a0001c0001t0003g0057 a0001c0001t0004g0052 a0001c0001t0005g0040 a0001c0001t0006g0025 a0001c0001t0007g0039 a0001c0001t0009g0061 a0001c0001t0014g0037 a0001c0001t0017g0012 a0001c0002t0001g0064 a0001c0002t0002g0030 a0001c0002t0002g0034 a0001c0002t0006g0028 a0001c0002t0007g0009 a0001c0002t0011g0029 a0001c0002t0019g0051 a0006c0003t0008g0035	20	64	0.3125	-32	c.83- others(49): Show c.83-27319_83-27288delTATATATATATATATATATATATATAAA TATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124786386	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	64	0.0156	-32	c.275 others(51): Show c.2753-3512_2753-3481delAGAAAGAAAGAAGGAAGGAAGGAAGG AAGGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL13A1_chr10_69796906_69964144	69936079	GGGAGGGA others(25): Show GGGAGGGAGGGAAGGAGGGAAGGGAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02965.hp1 HG02965.hp2 others(1): Show HG02723.hp2 HG02965.hp1 HG02965.hp2 HG03486.hp2	a0002 a0008 a0002 a0008	a0002c0005 a0002c0008 a0008c0025 a0002c0005 a0002c0008 a0008c0025	a0002c0005t0001 a0002c0005t0003 a0002c0008t0001 others(1): Show a0002c0005t0001 a0002c0005t0003 a0002c0008t0001 a0008c0025t0001	a0002c0005t0001g0171 a0002c0005t0003g0266 a0002c0008t0001g0148 others(1): Show a0002c0005t0001g0171 a0002c0005t0003g0266 a0002c0008t0001g0148 a0008c0025t0001g0234	4	324	0.0124	-32	c.177 others(49): Show c.1771-673_1771-642delGGGAGGGAAGGAGGGAAGGGAGGAAGGA AGGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120200715	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00544.hp2 others(52): Show HG00140.hp1 HG00140.hp2 HG00544.hp2 HG00639.hp2 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01884.hp1 HG01943.hp2 HG01981.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp2 HG02257.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03492.hp1 HG03704.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18941.hp1 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18968.hp2 NA18979.hp2 NA18982.hp2 NA19004.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19062.hp1 NA19065.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0009	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0001c0013 a0001c0015 a0001c0021 a0002c0016 a0004c0008 a0004c0009 a0008c0028 a0009c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0013 a0001c0003t0015 a0001c0003t0016 a0001c0007t0001 a0001c0007t0002 a0001c0007t0009 a0001c0013t0004 a0001c0015t0003 a0001c0021t0002 a0002c0016t0002 a0004c0008t0001 a0004c0008t0008 a0004c0009t0002 a0008c0028t0002 a0009c0029t0001	a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0113 others(52): Show a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0186 a0001c0001t0003g0043 a0001c0001t0003g0093 a0001c0003t0001g0035 a0001c0003t0001g0050 a0001c0003t0001g0057 a0001c0003t0001g0064 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0095 a0001c0003t0001g0125 a0001c0003t0001g0128 a0001c0003t0001g0174 a0001c0003t0001g0182 a0001c0003t0001g0192 a0001c0003t0002g0003 a0001c0003t0002g0056 a0001c0003t0002g0060 a0001c0003t0002g0084 a0001c0003t0002g0092 a0001c0003t0002g0099 a0001c0003t0002g0112 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0168 a0001c0003t0002g0195 a0001c0003t0003g0088 a0001c0003t0003g0172 a0001c0003t0013g0190 a0001c0003t0015g0194 a0001c0003t0016g0138 a0001c0007t0001g0083 a0001c0007t0002g0066 a0001c0007t0009g0045 a0001c0007t0009g0046 a0001c0013t0004g0071 a0001c0013t0004g0085 a0001c0015t0003g0094 a0001c0015t0003g0096 a0001c0021t0002g0191 a0002c0016t0002g0074 a0004c0008t0001g0101 a0004c0008t0001g0105 a0004c0008t0008g0217 a0004c0009t0002g0030 a0008c0028t0002g0130 a0009c0029t0001g0114	55	218	0.2523	-32	c.877 others(49): Show c.877+1169_877+1200delATATATATATATATATATATATATATAT ATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120298597	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	218	0.0046	-32	c.431 others(51): Show c.4314+1020_4314+1051delTATATATATATATATATATATATATA TATATA	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	35/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL18A1_chr21_45400165_45518720	45431340	TGGACCCG others(25): Show TGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0122 a0001c0013t0002g0122	1	292	0.0034	-32	c.106 others(51): Show c.106+25922_106+25953delGGGGCAGGCAGGACCCGGCGGCCCAG GGGAGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56185495	GCGCAATC others(25): Show GCGCAATCTCAGCTCACTGCAAGCTCCGCTTCC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0010 a0013c0023t0010	a0013c0023t0010g0011 a0013c0023t0010g0011	1	264	0.0038	-32	c.-38 others(49): Show c.-38-2871_-38-2840delGGAAGCGGAGCTTGCAGTGAGCTGAGAT TGCG	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	1/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178362884	TCCACCCC others(25): Show TCCACCCCCACAGCAACCCACCCCCACAGCAAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0131 a0002c0003t0005g0131	1	236	0.0042	-32	c.362 others(51): Show c.362-55997_362-55966delGTTGCTGTGGGGGTGGGTTGCTGTGG GGGTGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178362921	CCCCACAG others(25): Show CCCCACAGCAACCCACCCCCACAGCAATCCACT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0228 a0002c0002t0010g0228	1	236	0.0042	-32	c.362 others(51): Show c.362-56034_362-56003delAGTGGATTGCTGTGGGGGTGGGTTGC TGTGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178362948	TCCACTCC others(25): Show TCCACTCCCACAGCAACCCACCCCCACAGCAAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0129 a0002c0003t0001g0129	1	236	0.0042	-32	c.362 others(51): Show c.362-56061_362-56030delGTTGCTGTGGGGGTGGGTTGCTGTGG GAGTGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178498205	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp2 HG01070.hp1 others(36): Show HG00423.hp1 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01361.hp2 HG01433.hp1 HG01952.hp1 HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02622.hp2 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG04184.hp1 HG04199.hp1 NA18971.hp2 NA19002.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0008 a0011	a0001c0001 a0001c0004 a0002c0002 others(7): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0022 a0003c0005 a0003c0007 a0006c0020 a0008c0018 a0011c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0004t0001 a0001c0004t0005 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0006 a0002c0022t0009 a0003c0005t0002 a0003c0005t0003 a0003c0007t0001 a0006c0020t0012 a0008c0018t0003 a0011c0013t0005	a0001c0001t0002g0083 a0001c0001t0003g0067 a0001c0001t0003g0214 others(36): Show a0001c0001t0002g0083 a0001c0001t0003g0067 a0001c0001t0003g0214 a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0004g0065 a0001c0001t0004g0201 a0001c0001t0005g0009 a0001c0001t0007g0008 a0001c0001t0007g0118 a0001c0001t0014g0224 a0001c0004t0001g0007 a0001c0004t0005g0060 a0001c0004t0005g0106 a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0101 a0002c0002t0001g0186 a0002c0002t0001g0198 a0002c0003t0001g0036 a0002c0003t0001g0152 a0002c0003t0002g0034 a0002c0003t0003g0158 a0002c0003t0003g0173 a0002c0003t0005g0151 a0002c0003t0006g0229 a0002c0022t0009g0233 a0003c0005t0002g0168 a0003c0005t0002g0171 a0003c0005t0003g0010 a0003c0005t0003g0145 a0003c0005t0003g0156 a0003c0005t0003g0217 a0003c0007t0001g0102 a0003c0007t0001g0103 a0006c0020t0012g0085 a0008c0018t0003g0215 a0011c0013t0005g0132	39	236	0.1653	-32	c.361 others(51): Show c.361+62445_361+62476delATATATATATATATATATATATATAT ATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL25A1_chr4_108803725_109307658	109211274	CTATATAT others(25): Show CTATATATATATGAAACTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01884.hp1 HG02109.hp2 others(6): Show HG00140.hp2 HG01884.hp1 HG02109.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG03579.hp1 HG03579.hp2 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0026 a0001c0003t0001 a0001c0004t0002 a0002c0011t0007	a0001c0001t0001g0041 a0001c0001t0002g0063 a0001c0001t0002g0091 others(6): Show a0001c0001t0001g0041 a0001c0001t0002g0063 a0001c0001t0002g0091 a0001c0001t0002g0117 a0001c0001t0014g0012 a0001c0001t0026g0046 a0001c0003t0001g0055 a0001c0004t0002g0083 a0002c0011t0007g0061	9	130	0.0692	-32	c.367 others(51): Show c.367+89277_367+89308delTATATATATATATATAGTTTCATATA TATATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109258424	CTCAGTAT others(25): Show CTCAGTATATCATCTGTAAAATGGGAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0046 a0001c0001t0026g0046	1	130	0.0077	-32	c.367 others(51): Show c.367+42127_367+42158delTATTTATTCCCATTTTACAGATGATA TACTGA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101417610	ATATATCT others(25): Show ATATATCTAGACATAGATATAGAGATATATCTC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03130.hp2 HG02486.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0154 a0002c0003t0001g0100 a0001c0001t0002g0154 a0002c0003t0001g0100	2	174	0.0115	-32	c.159 others(49): Show c.159-2303_159-2272delCTATATCTAGACATAGATATAGAGATAT ATCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101556993	GTGGATGG others(25): Show GTGGATGGATGGATGGATGGATGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(64): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01081.hp1 HG01243.hp2 HG01258.hp2 HG01346.hp2 HG01515.hp1 HG01928.hp1 HG02004.hp1 HG02071.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03704.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18939.hp2 NA18942.hp1 NA18947.hp2 NA18955.hp1 NA18960.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA19005.hp1 NA19063.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0002c0003t0001 a0002c0003t0025 a0002c0003t0026 a0002c0004t0001 a0002c0004t0030 a0002c0006t0004 a0002c0006t0021 a0002c0007t0004 a0006c0016t0004	a0001c0001t0001g0114 a0001c0001t0002g0080 a0001c0002t0003g0048 others(64): Show a0001c0001t0001g0114 a0001c0001t0002g0080 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0002c0003t0001g0065 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0100 a0002c0003t0001g0102 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0119 a0002c0003t0001g0123 a0002c0003t0001g0130 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0143 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0164 a0002c0003t0025g0126 a0002c0003t0026g0107 a0002c0004t0001g0063 a0002c0004t0001g0070 a0002c0004t0001g0097 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0129 a0002c0004t0001g0131 a0002c0004t0001g0138 a0002c0004t0001g0145 a0002c0004t0001g0148 a0002c0004t0001g0150 a0002c0004t0001g0156 a0002c0004t0001g0157 a0002c0004t0001g0168 a0002c0004t0001g0171 a0002c0004t0030g0170 a0002c0006t0004g0011 a0002c0006t0004g0013 a0002c0006t0004g0016 a0002c0006t0004g0024 a0002c0006t0004g0032 a0002c0006t0004g0033 a0002c0006t0004g0042 a0002c0006t0004g0043 a0002c0006t0004g0044 a0002c0006t0004g0055 a0002c0006t0021g0017 a0002c0007t0004g0007 a0002c0007t0004g0008 a0002c0007t0004g0009 a0002c0007t0004g0018 a0002c0007t0004g0020 a0002c0007t0004g0037 a0002c0007t0004g0046 a0002c0007t0004g0053 a0006c0016t0004g0035	67	174	0.3851	-32	c.116 others(49): Show c.1166-356_1166-325delTGGATGGATGGATGGATGGATGGATGGA TGGA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A2_chr13_110302284_110518209	110355680	GGGTGGAG others(25): Show GGGTGGAGGGCTGTACAGCTCACCTGTGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00642.hp2 others(37): Show HG00423.hp1 HG00609.hp1 HG00642.hp2 HG00738.hp1 HG01891.hp1 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03516.hp1 HG03579.hp2 NA18522.hp1 NA18944.hp2 NA18957.hp1 NA18966.hp2 NA18975.hp1 NA18983.hp2 NA18987.hp2 NA18992.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19063.hp1 NA19063.hp2 NA19082.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0018 a0020 a0021	a0001c0001 a0001c0003 a0001c0004 others(25): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0014 a0001c0015 a0001c0029 a0001c0045 a0001c0046 a0001c0098 a0001c0102 a0002c0017 a0002c0038 a0002c0054 a0003c0007 a0003c0040 a0003c0068 a0003c0070 a0003c0095 a0004c0009 a0004c0058 a0007c0031 a0007c0059 a0007c0060 a0018c0049 a0020c0096 a0021c0053	a0001c0001t0006 a0001c0003t0003 a0001c0004t0003 others(32): Show a0001c0001t0006 a0001c0003t0003 a0001c0004t0003 a0001c0004t0004 a0001c0004t0006 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0008t0001 a0001c0014t0026 a0001c0015t0003 a0001c0029t0002 a0001c0045t0003 a0001c0046t0034 a0001c0098t0005 a0001c0102t0011 a0002c0017t0002 a0002c0038t0001 a0002c0054t0045 a0003c0007t0001 a0003c0007t0030 a0003c0007t0038 a0003c0040t0002 a0003c0068t0024 a0003c0070t0005 a0003c0095t0003 a0004c0009t0003 a0004c0058t0001 a0007c0031t0002 a0007c0031t0009 a0007c0059t0024 a0007c0060t0015 a0018c0049t0031 a0020c0096t0010 a0021c0053t0007	a0001c0001t0006g0047 a0001c0003t0003g0061 a0001c0004t0003g0059 others(37): Show a0001c0001t0006g0047 a0001c0003t0003g0061 a0001c0004t0003g0059 a0001c0004t0004g0354 a0001c0004t0004g0355 a0001c0004t0004g0356 a0001c0004t0004g0357 a0001c0004t0006g0053 a0001c0005t0001g0182 a0001c0005t0002g0322 a0001c0005t0003g0080 a0001c0008t0001g0202 a0001c0014t0026g0156 a0001c0015t0003g0093 a0001c0029t0002g0330 a0001c0045t0003g0021 a0001c0046t0034g0007 a0001c0098t0005g0237 a0001c0102t0011g0172 a0002c0017t0002g0334 a0002c0017t0002g0370 a0002c0038t0001g0212 a0002c0054t0045g0233 a0003c0007t0001g0031 a0003c0007t0030g0352 a0003c0007t0038g0019 a0003c0040t0002g0261 a0003c0068t0024g0247 a0003c0070t0005g0226 a0003c0095t0003g0082 a0004c0009t0003g0062 a0004c0009t0003g0078 a0004c0058t0001g0183 a0007c0031t0002g0364 a0007c0031t0009g0042 a0007c0059t0024g0252 a0007c0060t0015g0264 a0018c0049t0031g0045 a0020c0096t0010g0208 a0021c0053t0007g0241	40	372	0.1075	-32	c.100 others(49): Show c.100-1789_100-1758delTGGAGGGCTGTACAGCTCACCTGTGTGA GTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355778	GGGTGGAG others(25): Show GGGTGGAGGGCTGTACAGCTCACCTGTGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02145.hp1 HG02723.hp2 others(4): Show HG00738.hp1 HG02145.hp1 HG02723.hp2 HG03098.hp1 HG03209.hp2 NA19005.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0014 a0001c0046 others(4): Show a0001c0001 a0001c0014 a0001c0046 a0001c0102 a0002c0038 a0002c0121 a0003c0117	a0001c0001t0003 a0001c0014t0026 a0001c0046t0034 others(4): Show a0001c0001t0003 a0001c0014t0026 a0001c0046t0034 a0001c0102t0011 a0002c0038t0001 a0002c0121t0016 a0003c0117t0006	a0001c0001t0003g0063 a0001c0014t0026g0156 a0001c0046t0034g0007 others(4): Show a0001c0001t0003g0063 a0001c0014t0026g0156 a0001c0046t0034g0007 a0001c0102t0011g0172 a0002c0038t0001g0212 a0002c0121t0016g0238 a0003c0117t0006g0023	7	372	0.0188	-32	c.100 others(49): Show c.100-1691_100-1660delTGGAGGGCTGTACAGCTCACCTGTGTGA GTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A4_chr2_226997714_227169205	227041767	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0004	a0006c0005t0004g0191 a0006c0005t0004g0191	1	284	0.0035	-32	c.350 others(49): Show c.3505+349_3505+380delTTTCTTTCTTTCCCTTCCTTCCTTCCTT CCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041771	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18995.hp2 NA19060.hp2 HG03927.hp2 NA18995.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0203 a0002c0002t0002g0210 a0002c0002t0002g0211	3	284	0.0106	-32	c.350 others(49): Show c.3505+345_3505+376delTTTCTTTCTTTCTTTCCCTTCCTTCCTT CCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041783	GAAGGGAA others(25): Show GAAGGGAAAGAAAGAAAGAAAGGAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0248 a0002c0002t0002g0248	1	284	0.0035	-32	c.350 others(49): Show c.3505+333_3505+364delTTTCTTTCTTCCTTTCTTTCTTTCTTTC CCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134707529	ACCCTGGG others(25): Show ACCCTGGGATTCCTGTGAGTGGGAACAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(165): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(44): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0018 a0001c0019 a0001c0023 a0001c0024 a0001c0027 a0001c0028 a0001c0032 a0001c0033 a0001c0036 a0001c0039 a0001c0045 a0001c0046 a0001c0047 a0001c0049 a0001c0051 a0001c0056 a0001c0057 a0001c0058 a0001c0060 a0001c0061 a0001c0064 a0001c0065 a0002c0013 a0002c0017 a0003c0020 a0003c0021 a0004c0029 a0004c0067 a0005c0062 a0005c0063 a0006c0034 a0010c0037 a0011c0035 a0012c0043 a0013c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(100): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 a0001c0001t0031 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0013 a0001c0002t0016 a0001c0002t0042 a0001c0002t0055 a0001c0002t0056 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0010 a0001c0003t0014 a0001c0003t0015 a0001c0003t0025 a0001c0003t0028 a0001c0003t0032 a0001c0003t0044 a0001c0003t0049 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0018 a0001c0005t0003 a0001c0005t0006 a0001c0005t0045 a0001c0006t0001 a0001c0006t0004 a0001c0006t0007 a0001c0006t0010 a0001c0006t0019 a0001c0006t0048 a0001c0007t0004 a0001c0007t0015 a0001c0008t0001 a0001c0008t0003 a0001c0008t0011 a0001c0008t0034 a0001c0009t0001 a0001c0009t0003 a0001c0009t0023 a0001c0010t0026 a0001c0011t0001 a0001c0011t0007 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0018t0008 a0001c0019t0001 a0001c0019t0022 a0001c0023t0002 a0001c0024t0001 a0001c0027t0002 a0001c0028t0004 a0001c0028t0038 a0001c0032t0010 a0001c0033t0006 a0001c0036t0035 a0001c0039t0004 a0001c0045t0004 a0001c0046t0001 a0001c0047t0003 a0001c0049t0003 a0001c0051t0007 a0001c0056t0001 a0001c0057t0002 a0001c0058t0002 a0001c0060t0004 a0001c0061t0013 a0001c0064t0019 a0001c0065t0003 a0002c0013t0003 a0002c0013t0021 a0002c0017t0003 a0003c0020t0001 a0003c0021t0001 a0004c0029t0002 a0004c0029t0005 a0004c0067t0001 a0005c0062t0011 a0005c0063t0002 a0006c0034t0009 a0010c0037t0001 a0011c0035t0012 a0012c0043t0043 a0013c0055t0007	a0001c0001t0001g0033 a0001c0001t0001g0125 a0001c0001t0001g0147 others(165): Show a0001c0001t0001g0033 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0212 a0001c0001t0002g0023 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0003g0146 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0119 a0001c0001t0005g0155 a0001c0001t0005g0249 a0001c0001t0006g0110 a0001c0001t0007g0215 a0001c0001t0007g0248 a0001c0001t0008g0260 a0001c0001t0009g0109 a0001c0001t0020g0194 a0001c0001t0031g0075 a0001c0001t0059g0093 a0001c0002t0001g0018 a0001c0002t0001g0035 a0001c0002t0001g0050 a0001c0002t0001g0058 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0144 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0177 a0001c0002t0001g0209 a0001c0002t0001g0221 a0001c0002t0001g0236 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0002g0030 a0001c0002t0002g0056 a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0002t0002g0077 a0001c0002t0002g0096 a0001c0002t0002g0124 a0001c0002t0002g0126 a0001c0002t0002g0160 a0001c0002t0002g0171 a0001c0002t0003g0083 a0001c0002t0003g0154 a0001c0002t0004g0015 a0001c0002t0004g0150 a0001c0002t0005g0025 a0001c0002t0005g0059 a0001c0002t0005g0060 a0001c0002t0005g0063 a0001c0002t0005g0065 a0001c0002t0005g0117 a0001c0002t0005g0211 a0001c0002t0011g0095 a0001c0002t0013g0140 a0001c0002t0013g0168 a0001c0002t0016g0237 a0001c0002t0042g0185 a0001c0002t0055g0152 a0001c0002t0056g0162 a0001c0003t0001g0123 a0001c0003t0001g0196 a0001c0003t0003g0255 a0001c0003t0004g0038 a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0003t0007g0003 a0001c0003t0010g0039 a0001c0003t0010g0259 a0001c0003t0014g0247 a0001c0003t0015g0188 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0003t0028g0135 a0001c0003t0032g0004 a0001c0003t0044g0186 a0001c0003t0049g0158 a0001c0004t0001g0170 a0001c0004t0001g0225 a0001c0004t0002g0046 a0001c0004t0002g0228 a0001c0004t0003g0064 a0001c0004t0004g0224 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0005t0003g0265 a0001c0005t0006g0040 a0001c0005t0045g0267 a0001c0006t0001g0108 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0007g0103 a0001c0006t0010g0031 a0001c0006t0019g0264 a0001c0006t0048g0047 a0001c0007t0004g0028 a0001c0007t0015g0200 a0001c0008t0001g0087 a0001c0008t0001g0114 a0001c0008t0001g0149 a0001c0008t0003g0017 a0001c0008t0011g0091 a0001c0008t0034g0151 a0001c0009t0001g0106 a0001c0009t0001g0198 a0001c0009t0003g0261 a0001c0009t0023g0263 a0001c0010t0026g0049 a0001c0011t0001g0191 a0001c0011t0007g0027 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0086 a0001c0018t0008g0182 a0001c0019t0001g0214 a0001c0019t0022g0231 a0001c0023t0002g0113 a0001c0024t0001g0207 a0001c0027t0002g0090 a0001c0028t0004g0213 a0001c0028t0038g0138 a0001c0032t0010g0238 a0001c0033t0006g0190 a0001c0036t0035g0045 a0001c0039t0004g0197 a0001c0045t0004g0104 a0001c0046t0001g0239 a0001c0047t0003g0032 a0001c0049t0003g0183 a0001c0051t0007g0202 a0001c0056t0001g0084 a0001c0057t0002g0024 a0001c0058t0002g0127 a0001c0060t0004g0240 a0001c0061t0013g0178 a0001c0064t0019g0010 a0001c0065t0003g0009 a0002c0013t0003g0076 a0002c0013t0021g0071 a0002c0017t0003g0118 a0002c0017t0003g0163 a0002c0017t0003g0223 a0003c0020t0001g0120 a0003c0020t0001g0121 a0003c0021t0001g0157 a0003c0021t0001g0166 a0004c0029t0002g0097 a0004c0029t0005g0100 a0004c0067t0001g0094 a0005c0062t0011g0026 a0005c0063t0002g0072 a0006c0034t0009g0193 a0010c0037t0001g0057 a0011c0035t0012g0008 a0012c0043t0043g0037 a0013c0055t0007g0257	168	272	0.6177	-32	c.654 others(49): Show c.654+6222_654+6253delAGAGGAGCCCTGGGATTCCTGTGAGTGG GAAC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134710590	GGGGGCCC others(25): Show GGGGGCCCATTTGTTGGGTGCAGTGGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG01261.hp2 others(7): Show HG00642.hp2 HG01099.hp2 HG01261.hp2 HG02055.hp2 HG02080.hp2 HG02145.hp2 HG03225.hp1 NA18950.hp2 NA19030.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0019 a0001c0039 a0001c0060	a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0004t0002 a0001c0008t0001 a0001c0019t0001 a0001c0039t0004 a0001c0060t0004	a0001c0001t0007g0248 a0001c0002t0001g0236 a0001c0002t0001g0252 others(7): Show a0001c0001t0007g0248 a0001c0002t0001g0236 a0001c0002t0001g0252 a0001c0002t0002g0160 a0001c0002t0005g0063 a0001c0004t0002g0132 a0001c0008t0001g0087 a0001c0019t0001g0214 a0001c0039t0004g0197 a0001c0060t0004g0240	10	272	0.0368	-32	c.654 others(49): Show c.654+9265_654+9296delATTTGTTGGGTGCAGTGGTGGGGGAGGG GCCC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134788820	ATGGGAGG others(25): Show ATGGGAGGATAGGTAGACAGGCAGATGGATGAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0186 a0001c0003t0044g0186	1	272	0.0037	-32	c.264 others(49): Show c.2647-309_2647-278delGGATGAGTGGGAGGATAGGTAGACAGGC AGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	31/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9983529	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0012 a0012	a0012c0087 a0012c0087	a0012c0087t0001 a0012c0087t0001	a0012c0087t0001g0041 a0012c0087t0001g0041	1	412	0.0024	-32	c.240 others(51): Show c.2407-1443_2407-1412delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983574	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0004 a0004c0010t0004	a0004c0010t0004g0033 a0004c0010t0004g0033	1	412	0.0024	-32	c.240 others(51): Show c.2407-1488_2407-1457delCTTTCTCTTTCTTTCTTTCTTTCTTT CTTTCT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9994559	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0017 a0005c0005t0017	a0005c0005t0017g0184 a0005c0005t0017g0184	1	412	0.0024	-32	c.158 others(49): Show c.1588-785_1588-754delATATATATATATATATATATATATATAT ATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	16/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	46005937	GGCGGTGG others(25): Show GGCGGTGGGCGGGGCCCGGGGCAGAGGCAGCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01167.hp1 HG01255.hp1 others(17): Show HG00423.hp2 HG01167.hp1 HG01255.hp1 HG01361.hp1 HG01981.hp2 HG02015.hp1 HG02572.hp2 HG02809.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04228.hp1 NA18612.hp1 NA18945.hp2 NA19067.hp2 homoSapiens_chm13v2.hp1	a0001 a0015 a0017 a0001 a0015 a0017	a0001c0001 a0001c0003 a0001c0017 others(3): Show a0001c0001 a0001c0003 a0001c0017 a0001c0024 a0015c0027 a0017c0029	a0001c0001t0003 a0001c0003t0003 a0001c0003t0006 others(6): Show a0001c0001t0003 a0001c0003t0003 a0001c0003t0006 a0001c0003t0007 a0001c0003t0015 a0001c0017t0003 a0001c0024t0003 a0015c0027t0005 a0017c0029t0003	a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0014 others(17): Show a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0003t0003g0015 a0001c0003t0003g0019 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0036 a0001c0003t0003g0124 a0001c0003t0006g0005 a0001c0003t0006g0024 a0001c0003t0006g0031 a0001c0003t0006g0059 a0001c0003t0007g0108 a0001c0003t0015g0105 a0001c0017t0003g0016 a0001c0024t0003g0030 a0015c0027t0005g0076 a0017c0029t0003g0022	20	128	0.1563	-32	c.19 others(43): Show c.1925_*1956delGCGGTGGGCGGGGCCCGGGGCAGAGGCAGCGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		890		chr21	TogoVar
COL6A1_chr21_45976770_46010048	46006197	AGGCGGTG others(25): Show AGGCGGTGGGCGGGGCCCGGGTCAGAGGCAACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG01106.hp2 others(15): Show HG00280.hp2 HG00423.hp1 HG01106.hp2 HG01167.hp2 HG01943.hp1 HG02258.hp2 HG02622.hp2 HG02965.hp1 HG02970.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 NA18906.hp1 NA18945.hp1 NA18983.hp2 NA19004.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0012	a0001c0001 a0002c0002 a0003c0004 others(5): Show a0001c0001 a0002c0002 a0003c0004 a0003c0028 a0005c0006 a0005c0023 a0005c0034 a0012c0033	a0001c0001t0002 a0002c0002t0009 a0003c0004t0001 others(7): Show a0001c0001t0002 a0002c0002t0009 a0003c0004t0001 a0003c0004t0002 a0003c0004t0012 a0003c0028t0001 a0005c0006t0001 a0005c0023t0001 a0005c0034t0001 a0012c0033t0002	a0001c0001t0002g0111 a0002c0002t0009g0038 a0002c0002t0009g0122 others(15): Show a0001c0001t0002g0111 a0002c0002t0009g0038 a0002c0002t0009g0122 a0003c0004t0001g0061 a0003c0004t0001g0062 a0003c0004t0001g0066 a0003c0004t0001g0070 a0003c0004t0001g0095 a0003c0004t0002g0091 a0003c0004t0002g0099 a0003c0004t0012g0064 a0003c0028t0001g0053 a0005c0006t0001g0067 a0005c0006t0001g0069 a0005c0006t0001g0071 a0005c0023t0001g0060 a0005c0034t0001g0068 a0012c0033t0002g0080	18	128	0.1406	-32	c.21 others(43): Show c.2185_*2216delGGCGGTGGGCGGGGCCCGGGTCAGAGGCAACG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1150		chr21	TogoVar
COL6A1_chr21_45976770_46010048	46006200	CGGTGGGC others(25): Show CGGTGGGCGGGGCCCGGGTCAGAGGCAACGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG00642.hp2 others(16): Show HG00544.hp1 HG00642.hp1 HG00642.hp2 HG01943.hp2 HG01978.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02895.hp2 HG03195.hp2 NA19043.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0018 a0002c0002 others(2): Show a0001c0001 a0001c0018 a0002c0002 a0002c0008 a0014c0025	a0001c0001t0002 a0001c0018t0001 a0002c0002t0001 others(4): Show a0001c0001t0002 a0001c0018t0001 a0002c0002t0001 a0002c0002t0009 a0002c0002t0010 a0002c0008t0001 a0014c0025t0001	a0001c0001t0002g0104 a0001c0018t0001g0049 a0002c0002t0001g0037 others(16): Show a0001c0001t0002g0104 a0001c0018t0001g0049 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0078 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0009g0084 a0002c0002t0010g0039 a0002c0002t0010g0123 a0002c0008t0001g0077 a0014c0025t0001g0042	19	128	0.1484	-32	c.21 others(43): Show c.2188_*2219delGGTGGGCGGGGCCCGGGTCAGAGGCAACGGGT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1153		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46120662	ACTGCACC others(25): Show ACTGCACCCCAAGGTAGGGGACCCGGGTGGGTG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19043.hp1 HG02630.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0253 a0001c0002t0002g0254	2	372	0.0054	-32	c.139 others(49): Show c.1395+101_1395+132delGGGGACCCGGGTGGGTGCTGCACCCCAA GGTA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46124236	ACTGGGTG others(25): Show ACTGGGTGGATGGATGGATGGGTTAGTGGGTGG	A A	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0292 a0001c0002t0005g0292	1	372	0.0027	-32	c.167 others(49): Show c.1672-404_1672-373delGGATGGATGGGTTAGTGGGTGGCTGGGT GGAT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46120662	ACTGCACC others(25): Show ACTGCACCCCAAGGTAGGGGACCCGGGTGGGTG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19043.hp1 HG02630.hp1 NA19043.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0250 a0001c0023t0001g0251 a0001c0023t0001g0250 a0001c0023t0001g0251	2	364	0.0055	-32	c.139 others(49): Show c.1395+101_1395+132delGGGGACCCGGGTGGGTGCTGCACCCCAA GGTA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46124236	ACTGGGTG others(25): Show ACTGGGTGGATGGATGGATGGGTTAGTGGGTGG	A A	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0289 a0001c0002t0002g0289	1	364	0.0028	-32	c.167 others(49): Show c.1672-404_1672-373delGGATGGATGGGTTAGTGGGTGGCTGGGT GGAT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332070	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0110 a0002c0110	a0002c0110t0001 a0002c0110t0001	a0002c0110t0001g0076 a0002c0110t0001g0076	1	322	0.0031	-32	c.932 others(51): Show c.9328+1348_9328+1379delATATATATATATATATATATATATAT ATATAT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02451.hp2 HG02630.hp1 others(8): Show HG01433.hp1 HG02451.hp2 HG02630.hp1 HG02717.hp1 HG02922.hp1 HG06807.hp2 NA18942.hp2 NA18979.hp2 NA19057.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0002 a0007 a0019 others(4): Show a0002 a0007 a0019 a0021 a0022 a0069 a0070	a0002c0001 a0007c0011 a0007c0030 others(5): Show a0002c0001 a0007c0011 a0007c0030 a0019c0044 a0021c0029 a0022c0078 a0069c0048 a0070c0139	a0002c0001t0001 a0007c0011t0001 a0007c0030t0001 others(5): Show a0002c0001t0001 a0007c0011t0001 a0007c0030t0001 a0019c0044t0002 a0021c0029t0005 a0022c0078t0001 a0069c0048t0001 a0070c0139t0005	a0002c0001t0001g0030 a0002c0001t0001g0032 a0007c0011t0001g0003 others(7): Show a0002c0001t0001g0030 a0002c0001t0001g0032 a0007c0011t0001g0003 a0007c0011t0001g0309 a0007c0030t0001g0048 a0019c0044t0002g0066 a0021c0029t0005g0009 a0022c0078t0001g0247 a0069c0048t0001g0051 a0070c0139t0005g0202	11	322	0.0342	-32	c.766 others(49): Show c.7668+804_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL9A3_chr20_62812050_62846159	62824251	GTGCGGAG others(25): Show GTGCGGAGTGGCCTCCTGGGGTCCCGTCACTGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18906.hp2 HG01515.hp2 NA18906.hp2	a0004 a0007 a0004 a0007	a0004c0014 a0007c0018 a0004c0014 a0007c0018	a0004c0014t0001 a0007c0018t0001 a0004c0014t0001 a0007c0018t0001	a0004c0014t0001g0106 a0007c0018t0001g0100 a0004c0014t0001g0106 a0007c0018t0001g0100	2	412	0.0049	-32	c.520 others(47): Show c.520-170_520-139delCGTCACTGATGCGGAGTGGCCTCCTGGGGT CC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD9_chr11_36267292_36294424	36282463	AAACCATG others(25): Show AAACCATGGAAGCAAGAAAGAAGTGACAATATT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0150	1	448	0.0022	-32	c.52- others(47): Show c.52-1658_52-1627delAATATTGTCACTTCTTTCTTGCTTCCATGG TT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMT_chr22_19936772_19974975	19974241	TAGGTGCA others(25): Show TAGGTGCAGGGCAACCGCCACCCACGGTCACCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0156 a0001c0003t0002g0156	1	426	0.0024	-32	c.55 others(43): Show c.5506_*5537delAGGTGCAGGGCAACCGCCACCCACGGTCACCC	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding		4267		chr22	TogoVar
COP1_chr1_175939831_176212286	176151353	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01109.hp2 HG02056.hp2 others(29): Show HG00609.hp2 HG01109.hp2 HG02056.hp2 HG02080.hp1 HG02280.hp1 NA18939.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18961.hp1 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA19002.hp1 NA19003.hp2 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19068.hp1 NA19074.hp2 NA19080.hp1 NA19085.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0004c0005t0001	a0001c0001t0001g0069 a0001c0001t0001g0096 a0001c0001t0001g0097 others(29): Show a0001c0001t0001g0069 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0169 a0001c0001t0007g0002 a0001c0001t0009g0059 a0004c0005t0001g0031	32	300	0.1067	-32	c.763 others(49): Show c.763-2311_763-2280delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	5/19			chr1	TogoVar
COP1_chr1_175939831_176212286	176209275	GCCCCCCA others(25): Show GCCCCCCACCCCCTTTTGTTTAAGAGATGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01070.hp1 HG01071.hp2 others(13): Show HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01167.hp1 HG01943.hp1 HG01993.hp1 HG02273.hp1 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp2 HG04199.hp1 NA19030.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0002c0003 a0006c0008 others(1): Show a0001c0001 a0002c0003 a0006c0008 a0007c0009	a0001c0001t0001 a0001c0001t0013 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0013 a0002c0003t0001 a0006c0008t0001 a0007c0009t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(13): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0159 a0001c0001t0013g0269 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0006c0008t0001g0260 a0007c0009t0001g0247	16	300	0.0533	-32	c.-23 others(43): Show c.-2329_-2298delGCCCCATCTCTTAAACAAAAGGGGGTGGGGGG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding		1990		chr1	TogoVar
COPB1_chr11_14452512_14504811	14470899	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	386	0.0026	-32	c.173 others(51): Show c.1738-1368_1738-1337delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	COPB1	ENSG00000129083.13	transcript	ENST00000439561.7	protein_coding	14/21			chr11	TogoVar

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