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
COL26A1_chr7_101357875_101564024	101476512	G G	GGTTGGTT others(4): Show GGTTGGTTAACA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0060 a0001c0001t0015g0060	1	174	0.0058	11	c.385 others(30): Show c.385+28726_385+28736dupGTTGGTTAACA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489779	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	174	0.0058	11	c.385 others(30): Show c.385+41995_385+42005dupCTTTCTTTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL27A1_chr9_114150537_114317511	114166401	A A	ATCCATCC others(4): Show ATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0044 a0002c0044	a0002c0044t0007 a0002c0044t0007	a0002c0044t0007g0103 a0002c0044t0007g0103	1	308	0.0033	11	c.134 others(28): Show c.134-1288_134-1287insTCCATCCATCC	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	2/60			chr9	TogoVar
COL28A1_chr7_7352875_7540873	7400975	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0002 a0020c0022t0002	a0020c0022t0002g0163 a0020c0022t0002g0163	1	196	0.0051	11	c.213 others(32): Show c.2136+16883_2136+16884insACACACACACA	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	27/34			chr7	TogoVar
COL28A1_chr7_7352875_7540873	7522806	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18906.hp2 NA19084.hp2 HG02109.hp2 NA18906.hp2 NA19084.hp2	a0003 a0014 a0015 a0003 a0014 a0015	a0003c0003 a0014c0017 a0015c0052 a0003c0003 a0014c0017 a0015c0052	a0003c0003t0001 a0014c0017t0003 a0015c0052t0003 a0003c0003t0001 a0014c0017t0003 a0015c0052t0003	a0003c0003t0001g0083 a0014c0017t0003g0057 a0015c0052t0003g0191 a0003c0003t0001g0083 a0014c0017t0003g0057 a0015c0052t0003g0191	3	196	0.0153	11	c.703 others(26): Show c.703-856_703-846dupTTTTTTTTTTT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	4/34			chr7	TogoVar
COL4A1_chr13_110143963_110312157	110145379	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG02738.hp1 HG03239.hp2 others(6): Show HG01070.hp1 HG02738.hp1 HG03239.hp2 HG03491.hp1 HG06807.hp1 NA18948.hp2 NA18966.hp1 NA18970.hp2 NA19088.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0007 others(5): Show a0001c0001 a0001c0003 a0001c0007 a0002c0024 a0003c0041 a0003c0045 a0004c0005 a0004c0017	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0002c0024t0002 a0003c0041t0002 a0003c0045t0002 a0004c0005t0001 a0004c0017t0001	a0001c0001t0001g0133 a0001c0003t0001g0059 a0001c0007t0001g0046 others(6): Show a0001c0001t0001g0133 a0001c0003t0001g0059 a0001c0007t0001g0046 a0002c0024t0002g0281 a0003c0041t0002g0300 a0003c0045t0002g0305 a0004c0005t0001g0056 a0004c0005t0001g0101 a0004c0017t0001g0010	9	344	0.0262	11	c.49 others(22): Show c.4983_*4984insTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding		3583		chr13	TogoVar
COL4A1_chr13_110143963_110312157	110222771	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01169.hp1 HG01516.hp1 others(7): Show HG00738.hp2 HG01169.hp1 HG01516.hp1 HG01975.hp2 HG03942.hp1 NA18747.hp2 NA18945.hp2 NA18968.hp1 NA18972.hp2 NA19058.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0006 a0001c0013 others(3): Show a0001c0001 a0001c0006 a0001c0013 a0001c0019 a0001c0052 a0008c0054	a0001c0001t0001 a0001c0006t0001 a0001c0013t0001 others(3): Show a0001c0001t0001 a0001c0006t0001 a0001c0013t0001 a0001c0019t0001 a0001c0052t0001 a0008c0054t0001	a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0089 others(7): Show a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0089 a0001c0001t0001g0129 a0001c0006t0001g0143 a0001c0006t0001g0147 a0001c0013t0001g0030 a0001c0019t0001g0168 a0001c0052t0001g0149 a0008c0054t0001g0139	10	344	0.0291	11	c.145 others(28): Show c.145-8757_145-8756insTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110252545	A A	ATATACAA others(4): Show ATATACAAAATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01071.hp1 others(6): Show HG00140.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG02056.hp2 HG02818.hp1 HG03239.hp2 HG03516.hp2 NA18906.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0010 a0001c0013 a0002c0002 others(5): Show a0001c0010 a0001c0013 a0002c0002 a0002c0026 a0002c0083 a0003c0009 a0004c0005 a0004c0067	a0001c0010t0001 a0001c0013t0001 a0002c0002t0002 others(5): Show a0001c0010t0001 a0001c0013t0001 a0002c0002t0002 a0002c0026t0004 a0002c0083t0001 a0003c0009t0001 a0004c0005t0001 a0004c0067t0001	a0001c0010t0001g0049 a0001c0013t0001g0002 a0002c0002t0002g0288 others(5): Show a0001c0010t0001g0049 a0001c0013t0001g0002 a0002c0002t0002g0288 a0002c0026t0004g0266 a0002c0083t0001g0173 a0003c0009t0001g0203 a0004c0005t0001g0101 a0004c0067t0001g0007	9	344	0.0262	11	c.85- others(26): Show c.85-9812_85-9811insCATTTTGTATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110252705	T T	TATATACA others(4): Show TATATACATATA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0298 a0003c0014t0002g0298	1	344	0.0029	11	c.85- others(26): Show c.85-9972_85-9971insTATATGTATAT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110261035	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01074.hp2 others(9): Show HG00323.hp1 HG00738.hp1 HG01074.hp2 HG02132.hp1 HG02257.hp1 HG03130.hp2 HG03490.hp2 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG06807.hp2 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0007 others(9): Show a0001c0001 a0001c0006 a0001c0007 a0001c0056 a0002c0002 a0002c0018 a0002c0023 a0002c0039 a0002c0083 a0002c0100 a0002c0104 a0004c0022	a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 others(9): Show a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 a0001c0056t0003 a0002c0002t0001 a0002c0018t0001 a0002c0023t0002 a0002c0039t0002 a0002c0083t0001 a0002c0100t0001 a0002c0104t0001 a0004c0022t0001	a0001c0001t0001g0019 a0001c0006t0001g0008 a0001c0007t0001g0124 others(9): Show a0001c0001t0001g0019 a0001c0006t0001g0008 a0001c0007t0001g0124 a0001c0056t0003g0126 a0002c0002t0001g0185 a0002c0018t0001g0176 a0002c0023t0002g0290 a0002c0039t0002g0302 a0002c0083t0001g0173 a0002c0100t0001g0177 a0002c0104t0001g0178 a0004c0022t0001g0012	12	344	0.0349	11	c.85- others(28): Show c.85-18302_85-18301insTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110261036	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG01928.hp2 others(17): Show HG00621.hp2 HG00639.hp2 HG01928.hp2 HG01978.hp2 HG02055.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG03516.hp1 NA18948.hp2 NA18962.hp2 NA18993.hp2 NA19009.hp1 NA19012.hp2 NA19084.hp1 NA19085.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0007 a0001c0033 a0001c0036 others(12): Show a0001c0007 a0001c0033 a0001c0036 a0001c0058 a0002c0004 a0002c0015 a0002c0018 a0002c0109 a0003c0008 a0003c0009 a0003c0094 a0003c0098 a0004c0005 a0004c0017 a0004c0070	a0001c0007t0001 a0001c0007t0005 a0001c0033t0001 others(15): Show a0001c0007t0001 a0001c0007t0005 a0001c0033t0001 a0001c0036t0003 a0001c0058t0001 a0002c0004t0001 a0002c0015t0002 a0002c0015t0004 a0002c0015t0013 a0002c0018t0001 a0002c0109t0002 a0003c0008t0002 a0003c0009t0001 a0003c0094t0002 a0003c0098t0003 a0004c0005t0001 a0004c0017t0001 a0004c0070t0001	a0001c0007t0001g0153 a0001c0007t0005g0152 a0001c0033t0001g0099 others(17): Show a0001c0007t0001g0153 a0001c0007t0005g0152 a0001c0033t0001g0099 a0001c0036t0003g0061 a0001c0058t0001g0102 a0002c0004t0001g0214 a0002c0015t0002g0317 a0002c0015t0004g0268 a0002c0015t0013g0312 a0002c0018t0001g0197 a0002c0109t0002g0267 a0003c0008t0002g0286 a0003c0009t0001g0201 a0003c0009t0001g0205 a0003c0094t0002g0311 a0003c0098t0003g0206 a0004c0005t0001g0077 a0004c0005t0001g0096 a0004c0017t0001g0010 a0004c0070t0001g0036	20	344	0.0581	11	c.85- others(28): Show c.85-18313_85-18303dupTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110288014	T T	TGGGAGGC others(4): Show TGGGAGGCTGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00621.hp1 others(41): Show HG00140.hp1 HG00408.hp2 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01496.hp2 HG01516.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02083.hp1 HG02300.hp1 HG02602.hp1 HG02630.hp2 HG02698.hp2 HG02735.hp1 HG02922.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04228.hp1 NA18950.hp2 NA18960.hp1 NA18974.hp1 NA19058.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0006 others(29): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0001c0013 a0001c0032 a0001c0055 a0001c0056 a0001c0057 a0001c0062 a0002c0002 a0002c0004 a0002c0011 a0002c0015 a0002c0023 a0002c0026 a0002c0031 a0002c0039 a0002c0043 a0002c0044 a0003c0009 a0003c0012 a0003c0027 a0003c0038 a0003c0049 a0003c0090 a0003c0094 a0003c0103 a0004c0005 a0004c0017 a0004c0022 a0004c0035	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(31): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0010t0001 a0001c0013t0001 a0001c0032t0001 a0001c0055t0001 a0001c0056t0003 a0001c0057t0001 a0001c0062t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0001 a0002c0011t0001 a0002c0011t0002 a0002c0015t0013 a0002c0023t0003 a0002c0026t0004 a0002c0031t0002 a0002c0039t0002 a0002c0043t0001 a0002c0044t0002 a0003c0009t0001 a0003c0012t0002 a0003c0027t0002 a0003c0038t0001 a0003c0049t0001 a0003c0090t0004 a0003c0094t0002 a0003c0103t0001 a0004c0005t0001 a0004c0017t0001 a0004c0022t0001 a0004c0035t0001	a0001c0001t0001g0047 a0001c0003t0001g0074 a0001c0003t0001g0085 others(41): Show a0001c0001t0001g0047 a0001c0003t0001g0074 a0001c0003t0001g0085 a0001c0003t0001g0118 a0001c0006t0001g0087 a0001c0006t0001g0138 a0001c0010t0001g0049 a0001c0013t0001g0050 a0001c0032t0001g0083 a0001c0055t0001g0064 a0001c0056t0003g0126 a0001c0057t0001g0051 a0001c0062t0001g0017 a0002c0002t0002g0265 a0002c0002t0002g0270 a0002c0002t0002g0299 a0002c0002t0003g0195 a0002c0004t0001g0252 a0002c0011t0001g0184 a0002c0011t0002g0309 a0002c0011t0002g0310 a0002c0015t0013g0312 a0002c0023t0003g0239 a0002c0026t0004g0266 a0002c0026t0004g0313 a0002c0031t0002g0308 a0002c0039t0002g0271 a0002c0043t0001g0223 a0002c0044t0002g0321 a0003c0009t0001g0238 a0003c0012t0002g0307 a0003c0027t0002g0326 a0003c0027t0002g0327 a0003c0038t0001g0196 a0003c0049t0001g0262 a0003c0090t0004g0325 a0003c0094t0002g0311 a0003c0103t0001g0240 a0004c0005t0001g0101 a0004c0005t0001g0137 a0004c0017t0001g0004 a0004c0017t0001g0093 a0004c0022t0001g0048 a0004c0035t0001g0067	44	344	0.1279	11	c.84+ others(28): Show c.84+18919_84+18929dupCTCAGCCTCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110469906	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0194 a0001c0014t0001g0194	1	372	0.0027	11	c.220 others(28): Show c.2203+595_2203+605dupTTTTTTTTTTT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	28/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227188066	C C	CTCCTTTA others(4): Show CTCCTTTAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02004.hp1 others(13): Show HG01167.hp1 HG01169.hp2 HG02004.hp1 HG03654.hp1 NA18957.hp2 NA18960.hp1 NA18965.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18983.hp2 NA18994.hp2 NA19057.hp2 NA19058.hp2 NA19077.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0010	a0001c0001 a0001c0047 a0002c0007 others(3): Show a0001c0001 a0001c0047 a0002c0007 a0004c0003 a0008c0009 a0010c0014	a0001c0001t0001 a0001c0047t0002 a0002c0007t0001 others(4): Show a0001c0001t0001 a0001c0047t0002 a0002c0007t0001 a0004c0003t0004 a0008c0009t0001 a0010c0014t0001 a0010c0014t0002	a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 others(13): Show a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0214 a0001c0047t0002g0027 a0002c0007t0001g0019 a0004c0003t0004g0016 a0004c0003t0004g0028 a0004c0003t0004g0213 a0008c0009t0001g0029 a0010c0014t0001g0023 a0010c0014t0002g0021	16	344	0.0465	11	c.87+ others(28): Show c.87+23253_87+23254insTCCTTTAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227220165	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	344	0.0029	11	c.88- others(28): Show c.88-17803_88-17802insGTGTGTGTGTG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0293 a0004c0003t0004g0293	1	344	0.0029	11	c.546 others(26): Show c.546+711_546+712insATATATATATT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19084.hp2 HG03831.hp2 NA19084.hp2	a0004 a0009 a0004 a0009	a0004c0003 a0009c0008 a0004c0003 a0009c0008	a0004c0003t0004 a0009c0008t0001 a0004c0003t0004 a0009c0008t0001	a0004c0003t0004g0271 a0009c0008t0001g0167 a0004c0003t0004g0271 a0009c0008t0001g0167	2	344	0.0058	11	c.546 others(26): Show c.546+711_546+712insATATATATTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227302677	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02698.hp1 NA18990.hp1 HG02647.hp2 HG02698.hp1 NA18990.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0027 a0006c0013 a0001c0001 a0002c0027 a0006c0013	a0001c0001t0001 a0002c0027t0003 a0006c0013t0009 a0001c0001t0001 a0002c0027t0003 a0006c0013t0009	a0001c0001t0001g0117 a0002c0027t0003g0342 a0006c0013t0009g0216 a0001c0001t0001g0117 a0002c0027t0003g0342 a0006c0013t0009g0216	3	344	0.0087	11	c.388 others(28): Show c.3883-342_3883-332dupAAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	43/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227020873	C C	CTTCTTTT others(4): Show CTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp2 HG02896.hp2 others(5): Show HG02145.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03130.hp1 HG03209.hp2 HG03486.hp2	a0002 a0008 a0011 others(2): Show a0002 a0008 a0011 a0013 a0042	a0002c0019 a0008c0028 a0011c0012 others(3): Show a0002c0019 a0008c0028 a0011c0012 a0011c0053 a0013c0013 a0042c0034	a0002c0019t0005 a0008c0028t0034 a0011c0012t0006 others(3): Show a0002c0019t0005 a0008c0028t0034 a0011c0012t0006 a0011c0053t0015 a0013c0013t0006 a0042c0034t0004	a0002c0019t0005g0029 a0008c0028t0034g0160 a0011c0012t0006g0032 others(5): Show a0002c0019t0005g0029 a0008c0028t0034g0160 a0011c0012t0006g0032 a0011c0012t0006g0256 a0011c0012t0006g0257 a0011c0053t0015g0152 a0013c0013t0006g0155 a0042c0034t0004g0274	8	284	0.0282	11	c.421 others(30): Show c.4216+1174_4216+1175insAAAGAAAAGAA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	44/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041787	G G	GAAAGAAA others(4): Show GAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0017 a0009c0009t0001g0017	1	284	0.0035	11	c.350 others(28): Show c.3505+360_3505+361insTTTCTTTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045816	A A	ATATTTAG others(4): Show ATATTTAGATAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00673.hp1 others(22): Show HG00408.hp2 HG00609.hp1 HG00673.hp1 HG01106.hp1 HG01891.hp1 HG02970.hp2 HG03017.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04204.hp2 HG04228.hp2 NA18952.hp1 NA18975.hp1 NA18993.hp2 NA19000.hp1 NA19009.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19068.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA21309.hp2	a0003 a0012 a0014 others(4): Show a0003 a0012 a0014 a0016 a0019 a0029 a0038	a0003c0003 a0003c0014 a0003c0027 others(8): Show a0003c0003 a0003c0014 a0003c0027 a0003c0073 a0012c0011 a0014c0020 a0016c0064 a0016c0065 a0019c0025 a0029c0063 a0038c0038	a0003c0003t0003 a0003c0014t0002 a0003c0027t0003 others(9): Show a0003c0003t0003 a0003c0014t0002 a0003c0027t0003 a0003c0073t0003 a0012c0011t0003 a0014c0020t0001 a0014c0020t0003 a0016c0064t0005 a0016c0065t0005 a0019c0025t0002 a0029c0063t0003 a0038c0038t0005	a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0071 others(22): Show a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0071 a0003c0003t0003g0084 a0003c0003t0003g0101 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0190 a0003c0003t0003g0223 a0003c0003t0003g0241 a0003c0014t0002g0069 a0003c0014t0002g0094 a0003c0014t0002g0242 a0003c0027t0003g0096 a0003c0073t0003g0018 a0012c0011t0003g0233 a0014c0020t0001g0007 a0014c0020t0003g0103 a0016c0064t0005g0178 a0016c0065t0005g0150 a0019c0025t0002g0198 a0019c0025t0002g0261 a0029c0063t0003g0082 a0038c0038t0005g0024	25	284	0.0880	11	c.328 others(30): Show c.3289+1658_3289+1659insCTATCTAAATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227047731	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0057 a0003c0003t0003g0057	1	284	0.0035	11	c.321 others(28): Show c.3215-183_3215-182insTGTGTGTGTGT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	34/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227060101	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0057 a0003c0003t0003g0057	1	284	0.0035	11	c.216 others(26): Show c.2164+24_2164+34dupTTTTTTTTTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	27/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227091922	G G	GAAAAGAA others(4): Show GAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	284	0.0035	11	c.137 others(30): Show c.1370-1966_1370-1965insTCTTTTCTTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	20/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA21309.hp1 NA18986.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0041 a0002c0002t0001g0019 a0002c0002t0001g0041	2	269	0.0074	11	c.81+ others(28): Show c.81+33428_81+33429insATATTTTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01978.hp2 HG02083.hp1 others(15): Show HG01975.hp2 HG01978.hp2 HG02083.hp1 HG02155.hp2 HG02165.hp2 HG03491.hp1 HG03492.hp1 NA18612.hp1 NA18944.hp1 NA18949.hp1 NA18951.hp1 NA18960.hp1 NA18967.hp1 NA18981.hp2 NA18984.hp1 NA18998.hp2 NA18999.hp2 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 others(15): Show a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0067 a0002c0002t0001g0267	18	269	0.0669	11	c.81+ others(28): Show c.81+33428_81+33429insATTTTTTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526661	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	269	0.0037	11	c.82- others(28): Show c.82-13084_82-13083insTCTTTCTTTCT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108531370	T T	TAAATAAA others(4): Show TAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014	a0001c0001 a0001c0003 a0001c0012 others(13): Show a0001c0001 a0001c0003 a0001c0012 a0002c0002 a0002c0004 a0002c0009 a0003c0005 a0004c0006 a0006c0017 a0007c0013 a0008c0014 a0009c0015 a0010c0016 a0012c0011 a0013c0018 a0014c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0003t0001 a0001c0003t0007 a0001c0012t0001 a0002c0002t0001 a0002c0002t0013 a0002c0004t0003 a0002c0009t0001 a0003c0005t0001 a0003c0005t0014 a0004c0006t0001 a0006c0017t0001 a0007c0013t0001 a0008c0014t0001 a0009c0015t0001 a0010c0016t0001 a0012c0011t0001 a0013c0018t0001 a0014c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0044 others(255): Show a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0004g0059 a0001c0001t0005g0185 a0001c0001t0006g0205 a0001c0001t0008g0181 a0001c0001t0009g0210 a0001c0001t0010g0198 a0001c0001t0011g0237 a0001c0001t0015g0075 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0007g0220 a0001c0012t0001g0077 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0013g0031 a0002c0004t0003g0042 a0002c0009t0001g0009 a0003c0005t0001g0109 a0003c0005t0001g0112 a0003c0005t0001g0113 a0003c0005t0001g0114 a0003c0005t0014g0110 a0004c0006t0001g0244 a0004c0006t0001g0245 a0004c0006t0001g0246 a0006c0017t0001g0102 a0007c0013t0001g0126 a0008c0014t0001g0252 a0009c0015t0001g0103 a0010c0016t0001g0175 a0012c0011t0001g0201 a0013c0018t0001g0111 a0014c0008t0001g0162	258	269	0.9591	11	c.82- others(26): Show c.82-8368_82-8358dupTAAAAAATAAA	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A1_chr9_134636803_134849843	134759270	A A	ACATGCAC others(4): Show ACATGCACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00609.hp2 others(55): Show HG00408.hp2 HG00558.hp1 HG00609.hp2 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02080.hp2 HG02155.hp2 HG02273.hp1 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 NA18906.hp1 NA18950.hp1 NA18961.hp2 NA18967.hp1 NA18999.hp1 NA19005.hp1 NA19007.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0010	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0015 a0001c0018 a0001c0019 a0001c0027 a0001c0028 a0001c0032 a0001c0033 a0001c0036 a0001c0039 a0001c0049 a0001c0056 a0001c0057 a0001c0064 a0002c0017 a0004c0029 a0005c0062 a0006c0034 a0010c0037	a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 others(41): Show a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0055 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0010 a0001c0004t0002 a0001c0005t0045 a0001c0006t0001 a0001c0006t0004 a0001c0006t0007 a0001c0006t0010 a0001c0006t0047 a0001c0006t0048 a0001c0008t0001 a0001c0008t0003 a0001c0009t0001 a0001c0009t0003 a0001c0009t0023 a0001c0010t0003 a0001c0015t0052 a0001c0018t0008 a0001c0019t0022 a0001c0027t0001 a0001c0028t0038 a0001c0032t0010 a0001c0033t0006 a0001c0036t0035 a0001c0039t0004 a0001c0049t0003 a0001c0056t0001 a0001c0057t0002 a0001c0064t0019 a0002c0017t0003 a0004c0029t0002 a0004c0029t0005 a0005c0062t0011 a0006c0034t0009 a0010c0037t0001	a0001c0001t0005g0119 a0001c0002t0001g0144 a0001c0002t0001g0156 others(54): Show a0001c0001t0005g0119 a0001c0002t0001g0144 a0001c0002t0001g0156 a0001c0002t0002g0056 a0001c0002t0002g0074 a0001c0002t0002g0077 a0001c0002t0002g0096 a0001c0002t0002g0124 a0001c0002t0004g0015 a0001c0002t0005g0060 a0001c0002t0005g0063 a0001c0002t0005g0211 a0001c0002t0055g0152 a0001c0003t0001g0123 a0001c0003t0002g0001 a0001c0003t0003g0255 a0001c0003t0004g0038 a0001c0003t0004g0266 a0001c0003t0010g0039 a0001c0003t0010g0259 a0001c0004t0002g0228 a0001c0005t0045g0267 a0001c0006t0001g0108 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0007g0103 a0001c0006t0010g0031 a0001c0006t0047g0019 a0001c0006t0048g0047 a0001c0008t0001g0114 a0001c0008t0001g0149 a0001c0008t0003g0017 a0001c0009t0001g0106 a0001c0009t0001g0198 a0001c0009t0003g0261 a0001c0009t0023g0263 a0001c0010t0003g0068 a0001c0015t0052g0016 a0001c0018t0008g0179 a0001c0018t0008g0182 a0001c0019t0022g0231 a0001c0027t0001g0130 a0001c0028t0038g0138 a0001c0032t0010g0238 a0001c0033t0006g0190 a0001c0036t0035g0045 a0001c0039t0004g0197 a0001c0049t0003g0183 a0001c0056t0001g0084 a0001c0057t0002g0024 a0001c0064t0019g0010 a0002c0017t0003g0223 a0004c0029t0002g0097 a0004c0029t0005g0100 a0005c0062t0011g0026 a0006c0034t0009g0193 a0010c0037t0001g0057	58	272	0.2132	11	c.193 others(28): Show c.1935+974_1935+975insCATGCACACAC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65			chr9	TogoVar
COL5A1_chr9_134636803_134849843	134759273	C C	CATGCACA others(4): Show CATGCACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG02109.hp2 others(1): Show HG00642.hp2 HG01099.hp1 HG02109.hp2 NA21309.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0060 a0001c0065 others(1): Show a0001c0001 a0001c0060 a0001c0065 a0014c0053	a0001c0001t0001 a0001c0060t0004 a0001c0065t0003 others(1): Show a0001c0001t0001 a0001c0060t0004 a0001c0065t0003 a0014c0053t0029	a0001c0001t0001g0125 a0001c0060t0004g0240 a0001c0065t0003g0009 others(1): Show a0001c0001t0001g0125 a0001c0060t0004g0240 a0001c0065t0003g0009 a0014c0053t0029g0134	4	272	0.0147	11	c.193 others(28): Show c.1935+978_1935+979insTGCACACACAA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760541	C C	CATGCACA others(4): Show CATGCACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	272	0.0037	11	c.193 others(30): Show c.1936-1384_1936-1383insATGCACACACA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65			chr9	TogoVar
COL5A1_chr9_134636803_134849843	134826750	T T	TGTGTGTG others(4): Show TGTGTGTGGCTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0265 a0001c0005t0003g0265	1	272	0.0037	11	c.506 others(28): Show c.5067+855_5067+865dupCTGGTGTGTGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134828555	C C	CACCACAC others(4): Show CACCACACACCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG02723.hp1 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0025 a0001c0005 a0001c0025	a0001c0005t0022 a0001c0025t0015 a0001c0005t0022 a0001c0025t0015	a0001c0005t0022g0085 a0001c0025t0015g0007 a0001c0005t0022g0085 a0001c0025t0015g0007	2	272	0.0074	11	c.506 others(30): Show c.5068-1421_5068-1420insACCACACACCA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65			chr9	TogoVar
COL5A3_chr19_9954561_10015504	9956800	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01255.hp2 others(16): Show HG00140.hp2 HG01074.hp2 HG01255.hp2 HG01891.hp1 HG01952.hp1 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG03098.hp1 HG03579.hp2 NA18969.hp1 NA19066.hp1 NA19074.hp1 NA20300.hp1	a0002 a0006 a0007 others(10): Show a0002 a0006 a0007 a0008 a0009 a0012 a0014 a0030 a0031 a0046 a0068 a0072 a0074	a0002c0002 a0002c0034 a0006c0022 others(11): Show a0002c0002 a0002c0034 a0006c0022 a0007c0032 a0008c0004 a0009c0007 a0012c0087 a0014c0064 a0030c0080 a0031c0043 a0046c0075 a0068c0101 a0072c0093 a0074c0094	a0002c0002t0001 a0002c0034t0002 a0006c0022t0007 others(12): Show a0002c0002t0001 a0002c0034t0002 a0006c0022t0007 a0007c0032t0007 a0008c0004t0001 a0009c0007t0010 a0012c0087t0001 a0014c0064t0001 a0030c0080t0015 a0031c0043t0006 a0031c0043t0007 a0046c0075t0007 a0068c0101t0004 a0072c0093t0001 a0074c0094t0001	a0002c0002t0001g0315 a0002c0034t0002g0163 a0006c0022t0007g0288 others(16): Show a0002c0002t0001g0315 a0002c0034t0002g0163 a0006c0022t0007g0288 a0006c0022t0007g0289 a0006c0022t0007g0290 a0006c0022t0007g0291 a0007c0032t0007g0114 a0008c0004t0001g0023 a0008c0004t0001g0024 a0009c0007t0010g0122 a0012c0087t0001g0041 a0014c0064t0001g0180 a0030c0080t0015g0110 a0031c0043t0006g0055 a0031c0043t0007g0054 a0046c0075t0007g0053 a0068c0101t0004g0039 a0072c0093t0001g0282 a0074c0094t0001g0028	19	412	0.0461	11	c.36 others(22): Show c.3610_*3611insTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding		2760		chr19	TogoVar
COL5A3_chr19_9954561_10015504	9977970	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0387 a0006c0014t0001g0387	1	412	0.0024	11	c.301 others(28): Show c.3019-280_3019-270dupATATATATATA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	41/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9984942	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02559.hp2 HG01891.hp2 HG02486.hp2 HG02559.hp2	a0013 a0013	a0013c0008 a0013c0008	a0013c0008t0001 a0013c0008t0001	a0013c0008t0001g0047 a0013c0008t0001g0048 a0013c0008t0001g0049 a0013c0008t0001g0047 a0013c0008t0001g0048 a0013c0008t0001g0049	3	412	0.0073	11	c.240 others(28): Show c.2406+889_2406+899dupAAAAAAAAAAA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981637	T T	TCCCCTCC others(4): Show TCCCCTCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0118 a0002c0002t0008g0118	1	128	0.0078	11	c.-21 others(20): Show c.-214_-213insCCCCTCCCGCC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		132		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981648	C C	CCCCTCCC others(4): Show CCCCTCCCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0026 a0001c0003t0003g0026	1	128	0.0078	11	c.-20 others(20): Show c.-203_-202insCCCTCCCCTCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		121		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981680	T T	TCCCCCTC others(4): Show TCCCCCTCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	128	0.0078	11	c.-17 others(20): Show c.-171_-170insCCCCCTCCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		89		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981680	T T	TCCCCTCC others(4): Show TCCCCTCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	128	0.0078	11	c.-17 others(20): Show c.-171_-170insCCCCTCCCCGC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		89		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45988046	C C	CGGGGGAC others(4): Show CGGGGGACGGCG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0026 a0001c0003t0003g0026	1	128	0.0078	11	c.804 others(26): Show c.804+396_804+397insGACGGCGGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46123655	A A	ACATGGGT others(4): Show ACATGGGTGAAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0280 a0001c0002t0002g0280	1	372	0.0027	11	c.167 others(28): Show c.1671+719_1671+729dupCATGGGTGAAT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46124238	T T	TATTTATT others(4): Show TATTTATTCATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	372	0.0027	11	c.167 others(28): Show c.1672-413_1672-412insATTTATTCATG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	21/27			chr21	TogoVar
COL6A2_chr21_46093112_46134801	46128484	G G	GTGGCCTG others(4): Show GTGGCCTGGCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp1 others(132): Show HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(14): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0010 a0001c0011 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0001c0029 a0001c0030 a0003c0004 a0003c0007 a0005c0015 a0006c0037 a0006c0038	a0001c0001t0001 a0001c0002t0002 a0001c0005t0001 others(15): Show a0001c0001t0001 a0001c0002t0002 a0001c0005t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0020t0001 a0001c0021t0001 a0001c0023t0001 a0001c0024t0001 a0001c0029t0001 a0001c0030t0001 a0003c0004t0001 a0003c0007t0001 a0003c0007t0007 a0005c0015t0001 a0006c0037t0001 a0006c0038t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(123): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0218 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0337 a0001c0002t0002g0253 a0001c0002t0002g0259 a0001c0002t0002g0308 a0001c0005t0001g0040 a0001c0005t0001g0110 a0001c0005t0001g0118 a0001c0005t0001g0130 a0001c0005t0001g0157 a0001c0005t0001g0158 a0001c0005t0001g0165 a0001c0005t0001g0171 a0001c0005t0001g0264 a0001c0009t0001g0106 a0001c0009t0001g0111 a0001c0009t0001g0115 a0001c0009t0001g0120 a0001c0009t0001g0121 a0001c0010t0001g0172 a0001c0010t0001g0191 a0001c0011t0001g0335 a0001c0011t0001g0336 a0001c0020t0001g0181 a0001c0021t0001g0180 a0001c0023t0001g0034 a0001c0024t0001g0009 a0001c0029t0001g0143 a0001c0030t0001g0160 a0003c0004t0001g0312 a0003c0007t0001g0204 a0003c0007t0007g0203 a0005c0015t0001g0082 a0005c0015t0001g0162 a0006c0037t0001g0088 a0006c0038t0001g0089	135	372	0.3629	11	c.246 others(28): Show c.2462-705_2462-695dupGGCCCTGGCCT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134371	G G	GGGTCAGA others(4): Show GGGTCAGATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01257.hp1 HG01258.hp2 others(4): Show HG00609.hp2 HG01257.hp1 HG01258.hp2 HG02698.hp2 HG02970.hp2 HG03486.hp2 NA19087.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0001c0021 others(2): Show a0001c0001 a0001c0009 a0001c0021 a0001c0030 a0003c0004	a0001c0001t0001 a0001c0009t0001 a0001c0021t0001 others(2): Show a0001c0001t0001 a0001c0009t0001 a0001c0021t0001 a0001c0030t0001 a0003c0004t0006	a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0009t0001g0106 others(4): Show a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0009t0001g0106 a0001c0009t0001g0115 a0001c0021t0001g0180 a0001c0030t0001g0160 a0003c0004t0006g0210	7	372	0.0188	11	c.48 others(22): Show c.4880_*4881insGGTCAGATTTA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4571		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46123655	A A	ACATGGGT others(4): Show ACATGGGTGAAT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0276 a0001c0002t0002g0276	1	364	0.0028	11	c.167 others(28): Show c.1671+719_1671+729dupCATGGGTGAAT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46124238	T T	TATTTATT others(4): Show TATTTATTCATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	364	0.0028	11	c.167 others(28): Show c.1672-413_1672-412insATTTATTCATG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	21/27			chr21	TogoVar
COL6A2_chr21_46093112_46137848	46128484	G G	GTGGCCTG others(4): Show GTGGCCTGGCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp1 others(127): Show HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0004 others(23): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0011 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0023 a0001c0034 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0048 a0001c0049 a0003c0008 a0003c0010 a0003c0016 a0009c0058 a0009c0059 a0011c0053 a0012c0052	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(26): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0002t0002 a0001c0004t0001 a0001c0006t0001 a0001c0006t0010 a0001c0011t0001 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0006 a0001c0023t0001 a0001c0034t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0001c0040t0001 a0001c0048t0001 a0001c0049t0001 a0003c0008t0003 a0003c0010t0001 a0003c0016t0001 a0009c0058t0001 a0009c0059t0001 a0011c0053t0001 a0012c0052t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(122): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0006g0132 a0001c0001t0006g0171 a0001c0001t0011g0334 a0001c0002t0002g0256 a0001c0002t0002g0307 a0001c0004t0001g0042 a0001c0004t0001g0110 a0001c0004t0001g0118 a0001c0004t0001g0131 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0162 a0001c0004t0001g0168 a0001c0004t0001g0261 a0001c0006t0001g0002 a0001c0006t0001g0151 a0001c0006t0001g0165 a0001c0006t0001g0166 a0001c0006t0001g0167 a0001c0006t0001g0180 a0001c0006t0001g0188 a0001c0006t0001g0242 a0001c0006t0001g0303 a0001c0006t0001g0304 a0001c0006t0001g0306 a0001c0006t0010g0164 a0001c0011t0001g0106 a0001c0011t0001g0111 a0001c0011t0001g0115 a0001c0011t0001g0120 a0001c0011t0001g0121 a0001c0011t0001g0177 a0001c0014t0001g0002 a0001c0014t0001g0003 a0001c0014t0001g0012 a0001c0018t0001g0169 a0001c0018t0001g0187 a0001c0019t0001g0332 a0001c0019t0001g0333 a0001c0020t0001g0002 a0001c0020t0001g0117 a0001c0021t0006g0145 a0001c0021t0006g0176 a0001c0023t0001g0250 a0001c0034t0001g0178 a0001c0036t0001g0035 a0001c0037t0001g0012 a0001c0038t0001g0129 a0001c0039t0001g0281 a0001c0040t0001g0008 a0001c0048t0001g0144 a0001c0049t0001g0158 a0003c0008t0003g0199 a0003c0010t0001g0310 a0003c0016t0001g0200 a0009c0058t0001g0090 a0009c0059t0001g0091 a0011c0053t0001g0084 a0012c0052t0001g0160	130	364	0.3571	11	c.246 others(30): Show c.2461+1950_2461+1960dupGGCCCTGGCCT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134371	G G	GGGTCAGA others(4): Show GGGTCAGATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01257.hp1 HG01258.hp2 others(4): Show HG00609.hp2 HG01257.hp1 HG01258.hp2 HG02698.hp2 HG02970.hp2 HG03486.hp2 NA19087.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0001c0011 others(2): Show a0001c0001 a0001c0006 a0001c0011 a0001c0049 a0004c0005	a0001c0001t0001 a0001c0006t0001 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0006t0001 a0001c0011t0001 a0001c0049t0001 a0004c0005t0004	a0001c0001t0001g0159 a0001c0006t0001g0167 a0001c0011t0001g0106 others(4): Show a0001c0001t0001g0159 a0001c0006t0001g0167 a0001c0011t0001g0106 a0001c0011t0001g0115 a0001c0011t0001g0177 a0001c0049t0001g0158 a0004c0005t0004g0206	7	364	0.0192	11	c.18 others(22): Show c.1819_*1820insGGTCAGATTTA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1524		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATTATATA others(4): Show ATTATATATATG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01358.hp2 HG02148.hp1 others(2): Show HG01123.hp2 HG01358.hp2 HG02148.hp1 NA18984.hp2 NA21309.hp2	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0028 a0049	a0001c0002 a0005c0017 a0006c0064 others(2): Show a0001c0002 a0005c0017 a0006c0064 a0028c0025 a0049c0104	a0001c0002t0001 a0005c0017t0007 a0006c0064t0003 others(2): Show a0001c0002t0001 a0005c0017t0007 a0006c0064t0003 a0028c0025t0002 a0049c0104t0002	a0001c0002t0001g0115 a0005c0017t0007g0034 a0006c0064t0003g0047 others(2): Show a0001c0002t0001g0115 a0005c0017t0007g0034 a0006c0064t0003g0047 a0028c0025t0002g0053 a0049c0104t0002g0020	5	322	0.0155	11	c.932 others(30): Show c.9328+1332_9328+1333insCATATATATAA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar

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