Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
COL26A1_chr7_101357875_101564024	101361764	AAAAAAAG others(6): Show AAAAAAAGAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03195.hp1 HG03486.hp1 others(3): Show HG02109.hp2 HG03195.hp1 HG03486.hp1 NA18906.hp2 NA18984.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0005t0002 a0002c0003t0001	a0001c0001t0001g0114 a0001c0001t0002g0163 a0001c0001t0009g0159 others(3): Show a0001c0001t0001g0114 a0001c0001t0002g0163 a0001c0001t0009g0159 a0001c0005t0002g0160 a0002c0003t0001g0158 a0002c0003t0001g0161	6	174	0.0345	-13	c.-12 others(24): Show c.-1268_-1256delAAAAAAGAAAAAG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding		1110		chr7	TogoVar
COL26A1_chr7_101357875_101564024	101366474	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0010 a0001c0012t0010	a0001c0012t0010g0002 a0001c0012t0010g0002	1	174	0.0058	-13	c.158 others(30): Show c.158+3315_158+3327delTTTTTTTTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101387757	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0030 a0002c0004t0030	a0002c0004t0030g0170 a0002c0004t0030g0170	1	174	0.0058	-13	c.158 others(32): Show c.158+24568_158+24580delATATATATATATA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101387759	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01928.hp1 HG01978.hp1 others(3): Show HG01261.hp1 HG01928.hp1 HG01978.hp1 HG01978.hp2 NA19063.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0003 a0001c0002t0006 a0002c0006t0004 a0001c0002t0003 a0001c0002t0006 a0002c0006t0004	a0001c0002t0003g0021 a0001c0002t0003g0023 a0001c0002t0003g0025 others(3): Show a0001c0002t0003g0021 a0001c0002t0003g0023 a0001c0002t0003g0025 a0001c0002t0003g0029 a0001c0002t0006g0022 a0002c0006t0004g0024	6	174	0.0345	-13	c.158 others(32): Show c.158+24570_158+24582delATATATATATATA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101387761	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0015 a0001c0002t0003g0015	1	174	0.0058	-13	c.158 others(32): Show c.158+24572_158+24584delATATATATATATA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101387763	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp1 HG01168.hp1 others(2): Show HG00621.hp2 HG01074.hp1 HG01168.hp1 HG01168.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0001c0013 others(1): Show a0001c0002 a0001c0012 a0001c0013 a0002c0003	a0001c0002t0003 a0001c0002t0006 a0001c0012t0010 others(2): Show a0001c0002t0003 a0001c0002t0006 a0001c0012t0010 a0001c0013t0010 a0002c0003t0001	a0001c0002t0003g0040 a0001c0002t0006g0041 a0001c0012t0010g0027 others(2): Show a0001c0002t0003g0040 a0001c0002t0006g0041 a0001c0012t0010g0027 a0001c0013t0010g0039 a0002c0003t0001g0164	5	174	0.0287	-13	c.158 others(32): Show c.158+24574_158+24586delATATATATATATA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101410860	GCTAATTT others(6): Show GCTAATTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG02896.hp2 others(5): Show HG02109.hp2 HG02647.hp1 HG02896.hp2 HG03195.hp1 HG03209.hp2 HG03516.hp1 NA18906.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0002t0020 a0001c0005t0002 a0002c0003t0001 a0002c0004t0001	a0001c0001t0002g0174 a0001c0001t0008g0115 a0001c0001t0009g0159 others(5): Show a0001c0001t0002g0174 a0001c0001t0008g0115 a0001c0001t0009g0159 a0001c0002t0020g0001 a0001c0005t0002g0160 a0002c0003t0001g0112 a0002c0003t0001g0158 a0002c0004t0001g0138	8	174	0.0460	-13	c.159 others(30): Show c.159-9103_159-9091delCTAATTTTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101471571	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03209.hp2 HG03486.hp1 HG02451.hp2 HG03209.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0008 a0001c0005t0029 a0002c0003t0001 a0001c0001t0008 a0001c0005t0029 a0002c0003t0001	a0001c0001t0008g0115 a0001c0005t0029g0092 a0002c0003t0001g0161 a0001c0001t0008g0115 a0001c0005t0029g0092 a0002c0003t0001g0161	3	174	0.0172	-13	c.385 others(32): Show c.385+23798_385+23810delTTTTTTTTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101517798	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02257.hp2 others(13): Show HG01243.hp2 HG01884.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0002c0004	a0001c0001t0002 a0001c0001t0008 a0001c0005t0002 others(7): Show a0001c0001t0002 a0001c0001t0008 a0001c0005t0002 a0001c0005t0005 a0001c0005t0008 a0001c0005t0011 a0001c0005t0023 a0001c0005t0029 a0002c0003t0026 a0002c0004t0001	a0001c0001t0002g0151 a0001c0001t0008g0115 a0001c0005t0002g0160 others(13): Show a0001c0001t0002g0151 a0001c0001t0008g0115 a0001c0005t0002g0160 a0001c0005t0005g0144 a0001c0005t0008g0085 a0001c0005t0008g0128 a0001c0005t0011g0147 a0001c0005t0023g0116 a0001c0005t0029g0092 a0002c0003t0026g0107 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0131 a0002c0004t0001g0148 a0002c0004t0001g0150	16	174	0.0920	-13	c.386 others(32): Show c.386-15263_386-15251delTTTTTTTTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7522806	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0002 a0012c0016t0002	a0012c0016t0002g0016 a0012c0016t0002g0016	1	196	0.0051	-13	c.703 others(28): Show c.703-858_703-846delTTTTTTTTTTTTT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	4/34			chr7	TogoVar
COL2A1_chr12_47967967_48009476	48008115	GAGAGAGA others(6): Show GAGAGAGAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0147 a0004c0017t0001g0147	1	414	0.0024	-13	c.-38 others(24): Show c.-3807_-3795delTCTTTCTCTCTCT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3640		chr12	TogoVar
COL4A1_chr13_110143963_110312157	110253206	ATATGTAT others(6): Show ATATGTATGTATGT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0071 a0004c0071	a0004c0071t0001 a0004c0071t0001	a0004c0071t0001g0084 a0004c0071t0001g0084	1	344	0.0029	-13	c.85- others(30): Show c.85-10485_85-10473delACATACATACATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110375723	GGGAGCTG others(6): Show GGGAGCTGAAGGCA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp2 NA19030.hp1 NA19030.hp2	a0002 a0003 a0002 a0003	a0002c0091 a0003c0067 a0002c0091 a0003c0067	a0002c0091t0001 a0003c0067t0050 a0002c0091t0001 a0003c0067t0050	a0002c0091t0001g0210 a0003c0067t0050g0151 a0002c0091t0001g0210 a0003c0067t0050g0151	2	372	0.0054	-13	c.180 others(32): Show c.180+18176_180+18188delCTGAAGGCAGGAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110516014	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0001 a0004c0030t0001	a0004c0030t0001g0179 a0004c0030t0001g0179	1	372	0.0027	-13	c.38 others(24): Show c.3824_*3836delAAAAAAAAAAAAA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding		2806		chr13	TogoVar
COL4A3_chr2_227159624_227319792	227252068	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02486.hp1 others(4): Show HG01884.hp2 HG02145.hp1 HG02486.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA21309.hp2	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0037	a0003c0039 a0003c0040 a0005c0029 others(2): Show a0003c0039 a0003c0040 a0005c0029 a0006c0016 a0037c0056	a0003c0039t0010 a0003c0040t0014 a0005c0029t0015 others(4): Show a0003c0039t0010 a0003c0040t0014 a0005c0029t0015 a0006c0016t0001 a0006c0016t0006 a0006c0016t0018 a0037c0056t0004	a0003c0039t0010g0005 a0003c0040t0014g0038 a0005c0029t0015g0295 others(4): Show a0003c0039t0010g0005 a0003c0040t0014g0038 a0005c0029t0015g0295 a0006c0016t0001g0225 a0006c0016t0006g0267 a0006c0016t0018g0036 a0037c0056t0004g0009	7	344	0.0204	-13	c.645 others(28): Show c.645+708_645+720delAAAAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	11/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227302677	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00735.hp2 others(65): Show HG00099.hp2 HG00280.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01192.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02132.hp2 HG02273.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp1 HG02896.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03491.hp1 HG03654.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp2 NA18963.hp1 NA18965.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18982.hp2 NA18984.hp1 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA19003.hp2 NA19056.hp2 NA19060.hp2 NA19065.hp2 NA19070.hp2 NA19087.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0005 a0010 others(4): Show a0001 a0005 a0010 a0013 a0014 a0016 a0024	a0001c0001 a0001c0047 a0005c0005 others(8): Show a0001c0001 a0001c0047 a0005c0005 a0005c0020 a0010c0014 a0010c0018 a0013c0015 a0014c0023 a0014c0037 a0016c0024 a0024c0045	a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 others(11): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0001c0047t0002 a0005c0005t0002 a0005c0005t0007 a0005c0020t0002 a0010c0014t0002 a0010c0018t0002 a0013c0015t0002 a0014c0023t0002 a0014c0037t0002 a0016c0024t0002 a0024c0045t0002	a0001c0001t0002g0033 a0001c0001t0002g0050 a0001c0001t0002g0056 others(65): Show a0001c0001t0002g0033 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0097 a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0286 a0001c0001t0002g0291 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0318 a0001c0001t0002g0344 a0001c0001t0007g0128 a0001c0001t0007g0278 a0001c0001t0016g0048 a0001c0001t0016g0093 a0001c0047t0002g0027 a0005c0005t0002g0083 a0005c0005t0002g0179 a0005c0005t0002g0197 a0005c0005t0002g0223 a0005c0005t0007g0109 a0005c0005t0007g0114 a0005c0005t0007g0157 a0005c0005t0007g0162 a0005c0005t0007g0249 a0005c0005t0007g0280 a0005c0005t0007g0298 a0005c0020t0002g0078 a0005c0020t0002g0079 a0010c0014t0002g0021 a0010c0014t0002g0086 a0010c0014t0002g0324 a0010c0018t0002g0104 a0010c0018t0002g0108 a0010c0018t0002g0202 a0013c0015t0002g0074 a0013c0015t0002g0075 a0013c0015t0002g0151 a0013c0015t0002g0258 a0014c0023t0002g0080 a0014c0037t0002g0196 a0016c0024t0002g0232 a0016c0024t0002g0294 a0024c0045t0002g0076	68	344	0.1977	-13	c.388 others(30): Show c.3883-344_3883-332delAAAAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	43/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A5_chrX_108434838_108702545	108526636	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	269	0.0037	-13	c.82- others(30): Show c.82-13107_82-13095delTCTTTCTTTCTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526817	GAGTGCAG others(6): Show GAGTGCAGTGGAAC	G G	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0102 a0006c0017t0001g0102	1	269	0.0037	-13	c.82- others(30): Show c.82-12927_82-12915delGTGCAGTGGAACA	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A1_chr9_134636803_134849843	134842875	GTTTTAAG others(6): Show GTTTTAAGTAAATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0131 a0001c0004t0033g0131	1	272	0.0037	-13	c.57 others(22): Show c.576_*588delTAAGTAAATATTT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	66/66	576	INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02970.hp1 HG03579.hp2 others(2): Show HG00544.hp1 HG02970.hp1 HG03579.hp2 NA18952.hp2 NA21309.hp2	a0015 a0030 a0050 a0015 a0030 a0050	a0015c0019 a0030c0080 a0030c0135 others(1): Show a0015c0019 a0030c0080 a0030c0135 a0050c0115	a0015c0019t0005 a0015c0019t0010 a0030c0080t0015 others(2): Show a0015c0019t0005 a0015c0019t0010 a0030c0080t0015 a0030c0135t0004 a0050c0115t0002	a0015c0019t0005g0149 a0015c0019t0010g0073 a0030c0080t0015g0110 others(2): Show a0015c0019t0005g0149 a0015c0019t0010g0073 a0030c0080t0015g0110 a0030c0135t0004g0336 a0050c0115t0002g0390	5	412	0.0121	-13	c.478 others(32): Show c.4782+1447_4782+1459delTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983532	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0007 a0007	a0007c0138 a0007c0138	a0007c0138t0003 a0007c0138t0003	a0007c0138t0003g0064 a0007c0138t0003g0064	1	412	0.0024	-13	c.240 others(32): Show c.2407-1427_2407-1415delTCTTTCTTTCTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983572	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0349 a0003c0009t0003g0349	1	412	0.0024	-13	c.240 others(32): Show c.2407-1467_2407-1455delTCTTTCTTTCTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45980558	CTCTCTGT others(6): Show CTCTCTGTCTCTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	128	0.0078	-13	c.-12 others(24): Show c.-1292_-1280delTCTCTGTCTCTGT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1211		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981403	GTTTTCAG others(6): Show GTTTTCAGACGTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0002 a0001c0035t0002	a0001c0035t0002g0010 a0001c0035t0002g0010	1	128	0.0078	-13	c.-44 others(22): Show c.-447_-435delTTTTCAGACGTTT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		366		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981586	CCCGCCCC others(6): Show CCCGCCCCTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	128	0.0078	-13	c.-26 others(22): Show c.-264_-252delCCGCCCCTCCCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		183		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981590	CCCCTCCC others(6): Show CCCCTCCCCTCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 NA19088.hp2 HG03688.hp2 NA19088.hp2	a0001 a0018 a0001 a0018	a0001c0003 a0018c0031 a0001c0003 a0018c0031	a0001c0003t0003 a0018c0031t0013 a0001c0003t0003 a0018c0031t0013	a0001c0003t0003g0033 a0018c0031t0013g0029 a0001c0003t0003g0033 a0018c0031t0013g0029	2	128	0.0156	-13	c.-26 others(22): Show c.-260_-248delCCCTCCCCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		179		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981595	CCCCTCCC others(6): Show CCCCTCCCGCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0059 a0001c0003t0006g0059	1	128	0.0078	-13	c.-25 others(22): Show c.-255_-243delCCCTCCCGCCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		174		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981600	CCCGCCCC others(6): Show CCCGCCCCGCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0002 a0013c0020t0002	a0013c0020t0002g0002 a0013c0020t0002g0002	1	128	0.0078	-13	c.-25 others(22): Show c.-250_-238delCCGCCCCGCCCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		169		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45997233	CCAGGCCC others(6): Show CCAGGCCCTTCGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(40): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01192.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03492.hp1 NA18612.hp2 NA18945.hp2 NA19004.hp2 NA19005.hp2 NA19043.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp2 NA19088.hp1	a0001 a0006 a0007 others(5): Show a0001 a0006 a0007 a0008 a0010 a0013 a0015 a0019	a0001c0001 a0001c0003 a0001c0010 others(11): Show a0001c0001 a0001c0003 a0001c0010 a0001c0012 a0001c0018 a0001c0021 a0001c0035 a0006c0011 a0007c0036 a0008c0015 a0010c0016 a0013c0020 a0015c0027 a0019c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0015 a0001c0010t0005 a0001c0012t0005 a0001c0018t0001 a0001c0021t0002 a0001c0035t0002 a0006c0011t0002 a0007c0036t0005 a0008c0015t0002 a0010c0016t0014 a0013c0020t0002 a0015c0027t0005 a0019c0032t0002	a0001c0001t0001g0065 a0001c0001t0002g0003 a0001c0001t0002g0004 others(40): Show a0001c0001t0001g0065 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0035 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0121 a0001c0001t0011g0125 a0001c0001t0016g0100 a0001c0003t0001g0115 a0001c0003t0002g0017 a0001c0003t0015g0105 a0001c0010t0005g0072 a0001c0010t0005g0075 a0001c0012t0005g0073 a0001c0012t0005g0074 a0001c0018t0001g0049 a0001c0021t0002g0093 a0001c0035t0002g0010 a0006c0011t0002g0097 a0006c0011t0002g0110 a0007c0036t0005g0083 a0008c0015t0002g0089 a0010c0016t0014g0090 a0013c0020t0002g0002 a0015c0027t0005g0076 a0019c0032t0002g0008	43	128	0.3359	-13	c.139 others(30): Show c.1399-175_1399-163delGCAGGCCCTTCGT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	46004360	TCTCCTGC others(6): Show TCTCCTGCCCTGCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG01074.hp2 others(7): Show HG00323.hp2 HG01074.hp1 HG01074.hp2 HG01255.hp2 HG01258.hp1 HG01496.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03927.hp1	a0002 a0020 a0002 a0020	a0002c0002 a0002c0008 a0020c0013 a0002c0002 a0002c0008 a0020c0013	a0002c0002t0004 a0002c0002t0008 a0002c0008t0004 others(1): Show a0002c0002t0004 a0002c0002t0008 a0002c0008t0004 a0020c0013t0004	a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0025 others(7): Show a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0025 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0002t0008g0051 a0002c0002t0008g0117 a0002c0002t0008g0118 a0002c0008t0004g0032 a0020c0013t0004g0018	10	128	0.0781	-13	c.35 others(22): Show c.357_*369delTGCCCTCCTGCCC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	35/35	357	INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134343	GGGGTTGG others(6): Show GGGGTTGGGGGTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02083.hp2 HG02970.hp1 others(4): Show HG02055.hp2 HG02083.hp2 HG02970.hp1 HG03516.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0003 a0002c0034 a0003c0004 others(1): Show a0002c0003 a0002c0034 a0003c0004 a0008c0036	a0002c0003t0008 a0002c0034t0008 a0003c0004t0002 others(1): Show a0002c0003t0008 a0002c0034t0008 a0003c0004t0002 a0008c0036t0008	a0002c0003t0008g0221 a0002c0003t0008g0222 a0002c0003t0008g0223 others(4): Show a0002c0003t0008g0221 a0002c0003t0008g0222 a0002c0003t0008g0223 a0002c0003t0008g0224 a0002c0034t0008g0046 a0003c0004t0002g0044 a0008c0036t0008g0225	7	372	0.0188	-13	c.48 others(24): Show c.4853_*4865delGGGTTGGGGGTCA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4543		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134343	GGGGTTGG others(6): Show GGGGTTGGGGGTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02083.hp2 HG02970.hp1 others(4): Show HG02055.hp2 HG02083.hp2 HG02970.hp1 HG03516.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp1	a0002 a0003 a0013 a0002 a0003 a0013	a0002c0013 a0002c0031 a0002c0055 others(2): Show a0002c0013 a0002c0031 a0002c0055 a0003c0063 a0013c0057	a0002c0013t0001 a0002c0031t0001 a0002c0055t0001 others(2): Show a0002c0013t0001 a0002c0031t0001 a0002c0055t0001 a0003c0063t0001 a0013c0057t0001	a0002c0013t0001g0217 a0002c0013t0001g0219 a0002c0031t0001g0218 others(4): Show a0002c0013t0001g0217 a0002c0013t0001g0219 a0002c0031t0001g0218 a0002c0031t0001g0220 a0002c0055t0001g0048 a0003c0063t0001g0046 a0013c0057t0001g0221	7	364	0.0192	-13	c.17 others(24): Show c.1792_*1804delGGGTTGGGGGTCA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1496		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135792	TCCCTCCC others(6): Show TCCCTCCCAGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(62): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01884.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02602.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18947.hp2 NA18950.hp1 NA19030.hp1 NA19065.hp2 NA19070.hp1 NA19080.hp1 NA19240.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0035 a0001c0045 a0002c0003 a0002c0013 a0002c0031 a0002c0055 a0002c0061 a0002c0062 a0003c0008 a0003c0010 a0003c0032 a0003c0063 a0003c0064 a0004c0005 a0013c0057	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(17): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0001c0035t0001 a0001c0045t0001 a0002c0003t0001 a0002c0003t0015 a0002c0013t0001 a0002c0031t0001 a0002c0055t0001 a0002c0061t0001 a0002c0062t0001 a0003c0008t0003 a0003c0010t0001 a0003c0032t0001 a0003c0063t0001 a0003c0064t0001 a0004c0005t0004 a0013c0057t0001	a0001c0001t0001g0185 a0001c0002t0001g0039 a0001c0002t0001g0322 others(61): Show a0001c0001t0001g0185 a0001c0002t0001g0039 a0001c0002t0001g0322 a0001c0004t0001g0007 a0001c0004t0001g0112 a0001c0004t0001g0127 a0001c0004t0001g0142 a0001c0004t0001g0143 a0001c0007t0001g0302 a0001c0035t0001g0052 a0001c0045t0001g0051 a0002c0003t0001g0006 a0002c0003t0001g0022 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0031 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0001g0057 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0068 a0002c0003t0001g0071 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0082 a0002c0003t0001g0085 a0002c0003t0001g0227 a0002c0003t0001g0228 a0002c0003t0015g0088 a0002c0013t0001g0217 a0002c0013t0001g0219 a0002c0031t0001g0218 a0002c0031t0001g0220 a0002c0055t0001g0048 a0002c0061t0001g0063 a0002c0062t0001g0226 a0003c0008t0003g0192 a0003c0010t0001g0207 a0003c0010t0001g0209 a0003c0032t0001g0240 a0003c0032t0001g0241 a0003c0063t0001g0046 a0003c0064t0001g0195 a0004c0005t0004g0047 a0004c0005t0004g0194 a0004c0005t0004g0203 a0004c0005t0004g0205 a0004c0005t0004g0206 a0004c0005t0004g0211 a0004c0005t0004g0212 a0004c0005t0004g0213 a0004c0005t0004g0215 a0004c0005t0004g0216 a0004c0005t0004g0230 a0004c0005t0004g0238 a0004c0005t0004g0239 a0013c0057t0001g0221	65	364	0.1786	-13	c.32 others(24): Show c.3241_*3253delCCCTCCCAGCCTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2945		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135886	CCCCTCCC others(6): Show CCCCTCCCAGCATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG03688.hp2 HG03710.hp2 others(12): Show HG01978.hp1 HG03688.hp2 HG03710.hp2 NA18942.hp1 NA18951.hp2 NA18969.hp1 NA18971.hp1 NA18977.hp2 NA18980.hp2 NA18988.hp1 NA19000.hp1 NA19003.hp1 NA19060.hp1 NA19060.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0001c0040	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0015t0002 a0001c0040t0001	a0001c0001t0001g0009 a0001c0001t0001g0049 a0001c0001t0001g0108 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0049 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0179 a0001c0001t0001g0229 a0001c0002t0002g0252 a0001c0002t0002g0288 a0001c0004t0001g0110 a0001c0015t0002g0260 a0001c0040t0001g0008	15	364	0.0412	-13	c.33 others(24): Show c.3335_*3347delCCCTCCCAGCATT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3039		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA19089.hp1 HG01981.hp1 NA19089.hp1	a0002 a0002	a0002c0001 a0002c0092 a0002c0001 a0002c0092	a0002c0001t0001 a0002c0092t0002 a0002c0001t0001 a0002c0092t0002	a0002c0001t0001g0252 a0002c0092t0002g0257 a0002c0001t0001g0252 a0002c0092t0002g0257	2	322	0.0062	-13	c.766 others(30): Show c.7668+823_7668+835delTTTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237415334	AGAGAAGA others(6): Show AGAGAAGAGAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02698.hp1 HG02809.hp1 others(7): Show HG02074.hp1 HG02698.hp1 HG02809.hp1 HG02922.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 NA18522.hp2 NA20129.hp2	a0001 a0002 a0009 others(6): Show a0001 a0002 a0009 a0013 a0021 a0040 a0044 a0059 a0069	a0001c0002 a0002c0110 a0009c0042 others(6): Show a0001c0002 a0002c0110 a0009c0042 a0013c0097 a0021c0029 a0040c0135 a0044c0062 a0059c0055 a0069c0048	a0001c0002t0003 a0001c0002t0004 a0002c0110t0001 others(7): Show a0001c0002t0003 a0001c0002t0004 a0002c0110t0001 a0009c0042t0012 a0013c0097t0002 a0021c0029t0005 a0040c0135t0008 a0044c0062t0005 a0059c0055t0004 a0069c0048t0001	a0001c0002t0003g0161 a0001c0002t0004g0008 a0002c0110t0001g0076 others(7): Show a0001c0002t0003g0161 a0001c0002t0004g0008 a0002c0110t0001g0076 a0009c0042t0012g0172 a0013c0097t0002g0107 a0021c0029t0005g0009 a0040c0135t0008g0188 a0044c0062t0005g0190 a0059c0055t0004g0162 a0069c0048t0001g0051	10	322	0.0311	-13	c.-14 others(24): Show c.-1425_-1413delCTCTTCTCTTCTC	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding		1171		chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362316	ATATATAT others(6): Show ATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0052 a0052	a0052c0101 a0052c0101	a0052c0101t0003 a0052c0101t0003	a0052c0101t0003g0061 a0052c0101t0003g0061	1	292	0.0034	-13	c.-28 others(32): Show c.-28-11293_-28-11281delATATATATATTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362318	ATATATAT others(6): Show ATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0092 a0092	a0092c0044 a0092c0044	a0092c0044t0004 a0092c0044t0004	a0092c0044t0004g0046 a0092c0044t0004g0046	1	292	0.0034	-13	c.-28 others(32): Show c.-28-11291_-28-11279delATATATATTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590299	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02683.hp2 HG01943.hp1 HG02683.hp2	a0005 a0006 a0005 a0006	a0005c0003 a0006c0007 a0005c0003 a0006c0007	a0005c0003t0004 a0006c0007t0005 a0005c0003t0004 a0006c0007t0005	a0005c0003t0004g0229 a0006c0007t0005g0052 a0005c0003t0004g0229 a0006c0007t0005g0052	2	264	0.0076	-13	c.421 others(30): Show c.4219-724_4219-712delTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130636205	GGAGGTTA others(6): Show GGAGGTTATCTCTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18959.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18988.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19083.hp1 NA19087.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0016 a0018 a0019 a0020 a0024 a0025 a0026 a0028 a0030 a0043 a0044 a0049	a0001c0001 a0002c0002 a0003c0010 others(44): Show a0001c0001 a0002c0002 a0003c0010 a0003c0013 a0003c0023 a0003c0027 a0003c0060 a0003c0061 a0003c0071 a0004c0004 a0004c0022 a0004c0029 a0005c0003 a0005c0059 a0006c0007 a0006c0015 a0006c0063 a0006c0067 a0007c0017 a0007c0018 a0007c0040 a0007c0072 a0007c0081 a0007c0083 a0008c0006 a0008c0034 a0009c0005 a0009c0055 a0010c0016 a0010c0038 a0011c0008 a0013c0028 a0013c0075 a0014c0011 a0016c0020 a0018c0033 a0019c0021 a0020c0025 a0024c0031 a0025c0073 a0025c0074 a0026c0035 a0028c0042 a0030c0043 a0043c0046 a0044c0052 a0049c0057	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(87): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0016 a0002c0002t0022 a0003c0010t0001 a0003c0010t0003 a0003c0010t0004 a0003c0010t0009 a0003c0013t0003 a0003c0013t0005 a0003c0013t0014 a0003c0023t0007 a0003c0027t0004 a0003c0060t0001 a0003c0061t0015 a0003c0071t0004 a0004c0004t0002 a0004c0022t0001 a0004c0029t0004 a0005c0003t0001 a0005c0003t0002 a0005c0003t0003 a0005c0003t0004 a0005c0003t0006 a0005c0003t0008 a0005c0003t0010 a0005c0003t0011 a0005c0059t0030 a0006c0007t0001 a0006c0007t0002 a0006c0007t0003 a0006c0007t0005 a0006c0007t0007 a0006c0015t0001 a0006c0015t0004 a0006c0015t0012 a0006c0063t0023 a0006c0067t0029 a0007c0017t0001 a0007c0017t0004 a0007c0017t0006 a0007c0018t0007 a0007c0018t0009 a0007c0040t0004 a0007c0072t0020 a0007c0081t0013 a0007c0083t0005 a0008c0006t0001 a0008c0006t0003 a0008c0006t0004 a0008c0006t0027 a0008c0034t0001 a0008c0034t0004 a0009c0005t0001 a0009c0005t0006 a0009c0005t0008 a0009c0055t0001 a0010c0016t0004 a0010c0038t0002 a0011c0008t0001 a0011c0008t0002 a0013c0028t0004 a0013c0028t0011 a0013c0075t0001 a0014c0011t0001 a0014c0011t0003 a0014c0011t0004 a0016c0020t0001 a0016c0020t0008 a0018c0033t0001 a0018c0033t0025 a0019c0021t0003 a0019c0021t0005 a0020c0025t0002 a0024c0031t0003 a0024c0031t0012 a0025c0073t0028 a0025c0074t0004 a0026c0035t0001 a0028c0042t0003 a0030c0043t0003 a0043c0046t0003 a0044c0052t0005 a0049c0057t0004	a0001c0001t0001g0195 a0001c0001t0002g0163 a0002c0002t0001g0013 others(134): Show a0001c0001t0001g0195 a0001c0001t0002g0163 a0002c0002t0001g0013 a0002c0002t0001g0095 a0002c0002t0001g0124 a0002c0002t0002g0041 a0002c0002t0002g0071 a0002c0002t0002g0075 a0002c0002t0002g0084 a0002c0002t0003g0004 a0002c0002t0003g0108 a0002c0002t0003g0116 a0002c0002t0003g0134 a0002c0002t0003g0162 a0002c0002t0003g0186 a0002c0002t0004g0202 a0002c0002t0004g0219 a0002c0002t0004g0220 a0002c0002t0005g0042 a0002c0002t0005g0070 a0002c0002t0005g0076 a0002c0002t0007g0201 a0002c0002t0016g0050 a0002c0002t0022g0165 a0003c0010t0001g0181 a0003c0010t0003g0006 a0003c0010t0003g0007 a0003c0010t0003g0261 a0003c0010t0004g0222 a0003c0010t0009g0251 a0003c0010t0009g0252 a0003c0010t0009g0253 a0003c0013t0003g0262 a0003c0013t0005g0044 a0003c0013t0005g0045 a0003c0013t0014g0031 a0003c0023t0007g0211 a0003c0027t0004g0213 a0003c0027t0004g0214 a0003c0060t0001g0150 a0003c0061t0015g0196 a0003c0071t0004g0200 a0004c0004t0002g0026 a0004c0022t0001g0010 a0004c0029t0004g0236 a0005c0003t0001g0005 a0005c0003t0001g0151 a0005c0003t0001g0152 a0005c0003t0001g0153 a0005c0003t0001g0157 a0005c0003t0002g0098 a0005c0003t0003g0014 a0005c0003t0004g0224 a0005c0003t0004g0229 a0005c0003t0006g0051 a0005c0003t0006g0088 a0005c0003t0006g0174 a0005c0003t0008g0184 a0005c0003t0010g0246 a0005c0003t0011g0237 a0005c0059t0030g0221 a0006c0007t0001g0123 a0006c0007t0001g0191 a0006c0007t0001g0194 a0006c0007t0002g0029 a0006c0007t0003g0130 a0006c0007t0003g0182 a0006c0007t0003g0260 a0006c0007t0005g0052 a0006c0007t0007g0092 a0006c0007t0007g0093 a0006c0015t0001g0205 a0006c0015t0004g0225 a0006c0015t0012g0033 a0006c0063t0023g0168 a0006c0067t0029g0259 a0007c0017t0001g0009 a0007c0017t0004g0210 a0007c0017t0006g0078 a0007c0018t0007g0245 a0007c0018t0009g0257 a0007c0040t0004g0234 a0007c0040t0004g0235 a0007c0072t0020g0190 a0007c0081t0013g0080 a0007c0083t0005g0048 a0008c0006t0001g0032 a0008c0006t0003g0122 a0008c0006t0003g0180 a0008c0006t0004g0226 a0008c0006t0004g0230 a0008c0006t0004g0231 a0008c0006t0004g0241 a0008c0006t0004g0242 a0008c0006t0004g0243 a0008c0006t0027g0232 a0008c0034t0001g0102 a0008c0034t0004g0233 a0009c0005t0001g0141 a0009c0005t0006g0068 a0009c0005t0006g0072 a0009c0005t0006g0073 a0009c0005t0008g0167 a0009c0005t0008g0204 a0009c0055t0001g0176 a0010c0016t0004g0209 a0010c0038t0002g0077 a0011c0008t0001g0012 a0011c0008t0001g0125 a0011c0008t0001g0126 a0011c0008t0001g0187 a0011c0008t0002g0034 a0013c0028t0004g0199 a0013c0028t0011g0244 a0013c0075t0001g0185 a0014c0011t0001g0177 a0014c0011t0003g0178 a0014c0011t0003g0179 a0014c0011t0004g0217 a0016c0020t0001g0144 a0016c0020t0008g0145 a0018c0033t0001g0193 a0018c0033t0025g0192 a0019c0021t0003g0198 a0019c0021t0005g0030 a0020c0025t0002g0027 a0020c0025t0002g0028 a0024c0031t0003g0016 a0024c0031t0012g0025 a0025c0073t0028g0218 a0025c0074t0004g0215 a0026c0035t0001g0002 a0028c0042t0003g0118 a0030c0043t0003g0143 a0043c0046t0003g0024 a0044c0052t0005g0060 a0049c0057t0004g0091	138	264	0.5227	-13	c.509 others(30): Show c.5091+448_5091+460delGTTATCTCTTGAG	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A2_chr1_36090239_36130222	36096087	ACGAGATC others(6): Show ACGAGATCACAGAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0023 a0003c0005t0023	a0003c0005t0023g0175 a0003c0005t0023g0175	1	390	0.0026	-13	c.14 others(24): Show c.1469_*1481delGTCTGTGATCTCG	COL8A2	ENSG00000171812.13	transcript	ENST00000397799.2	protein_coding	4/4	1469		chr1	TogoVar
COL8A2_chr1_36090239_36130222	36100887	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01884.hp1 others(16): Show HG01167.hp1 HG01169.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp2 NA18906.hp1 NA19043.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0021 a0001c0001 a0007c0021	a0001c0001t0004 a0001c0001t0007 a0007c0021t0004 a0001c0001t0004 a0001c0001t0007 a0007c0021t0004	a0001c0001t0004g0011 a0001c0001t0004g0013 a0001c0001t0004g0040 others(13): Show a0001c0001t0004g0011 a0001c0001t0004g0013 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0062 a0001c0001t0004g0102 a0001c0001t0004g0109 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0007g0276 a0001c0001t0007g0280 a0001c0001t0007g0281 a0007c0021t0004g0030	19	390	0.0487	-13	c.-16 others(28): Show c.-16-642_-16-630delAAAAAAAAAAAAA	COL8A2	ENSG00000171812.13	transcript	ENST00000397799.2	protein_coding	2/3			chr1	TogoVar
COL9A1_chr6_70211126_70308084	70245520	CAGATATG others(6): Show CAGATATGGGCAAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01069.hp2 others(21): Show HG00099.hp2 HG00323.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01346.hp2 HG01433.hp1 HG02145.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp1 HG02683.hp2 HG02886.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03225.hp2 HG03669.hp2 HG03927.hp2 NA20129.hp2 NA20905.hp1	a0003 a0005 a0011 a0003 a0005 a0011	a0003c0003 a0005c0005 a0011c0024 a0003c0003 a0005c0005 a0011c0024	a0003c0003t0001 a0003c0003t0002 a0003c0003t0007 others(4): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0007 a0005c0005t0002 a0005c0005t0003 a0005c0005t0006 a0011c0024t0001	a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0041 others(21): Show a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0061 a0003c0003t0001g0094 a0003c0003t0001g0114 a0003c0003t0001g0328 a0003c0003t0002g0043 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0060 a0003c0003t0002g0127 a0003c0003t0002g0252 a0003c0003t0002g0253 a0003c0003t0007g0349 a0003c0003t0007g0350 a0005c0005t0002g0015 a0005c0005t0002g0248 a0005c0005t0003g0247 a0005c0005t0006g0345 a0011c0024t0001g0244	24	362	0.0663	-13	c.187 others(32): Show c.1873-2818_1873-2806delCTTGCCCATATCT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	28/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40321124	TATATATA others(6): Show TATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	438	0.0023	-13	c.-39 others(24): Show c.-3940_-3928delTATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3839		chr1	TogoVar
COL9A3_chr20_62812050_62846159	62836560	GCGGGGCC others(6): Show GCGGGGCCCATCCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01884.hp1 others(32): Show HG00280.hp2 HG01081.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0028	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0013 a0001c0053 a0002c0008 a0002c0021 a0003c0009 a0004c0014 a0006c0039 a0028c0062	a0001c0001t0001 a0001c0001t0003 a0001c0003t0007 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0007 a0001c0004t0001 a0001c0007t0002 a0001c0010t0003 a0001c0010t0004 a0001c0013t0002 a0001c0013t0003 a0001c0053t0001 a0002c0008t0001 a0002c0021t0003 a0003c0009t0001 a0004c0014t0001 a0006c0039t0004 a0028c0062t0005	a0001c0001t0001g0020 a0001c0001t0001g0170 a0001c0001t0001g0176 others(29): Show a0001c0001t0001g0020 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0003g0192 a0001c0001t0003g0240 a0001c0003t0007g0352 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0073 a0001c0004t0001g0075 a0001c0007t0002g0011 a0001c0007t0002g0066 a0001c0007t0002g0067 a0001c0007t0002g0068 a0001c0010t0003g0248 a0001c0010t0004g0246 a0001c0013t0002g0039 a0001c0013t0002g0064 a0001c0013t0003g0332 a0001c0053t0001g0167 a0002c0008t0001g0105 a0002c0008t0001g0149 a0002c0008t0001g0339 a0002c0008t0001g0343 a0002c0021t0003g0143 a0003c0009t0001g0082 a0004c0014t0001g0015 a0004c0014t0001g0104 a0004c0014t0001g0106 a0004c0014t0001g0107 a0006c0039t0004g0108 a0028c0062t0005g0086	35	412	0.0850	-13	c.160 others(28): Show c.1603+31_1603+43delGGGCCCATCCCCG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	29/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC12_chr18_311737_505701	319330	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0215 a0004c0006t0215	a0004c0006t0215g0341 a0004c0006t0215g0341	1	366	0.0027	-13	c.70 others(22): Show c.702_*714delATTTTTTTTTTTT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	702		chr18	TogoVar
COLEC12_chr18_311737_505701	319332	AAAAAAAA others(6): Show AAAAAAAAAAATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0234 a0002c0001t0234	a0002c0001t0234g0333 a0002c0001t0234g0333	1	366	0.0027	-13	c.70 others(22): Show c.700_*712delATATTTTTTTTTT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10	700		chr18	TogoVar
COLEC12_chr18_311737_505701	325627	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18980.hp1 NA18982.hp1 others(1): Show NA18954.hp2 NA18980.hp1 NA18982.hp1 NA19090.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0125 a0003c0002t0032 a0003c0002t0124 others(1): Show a0002c0001t0125 a0003c0002t0032 a0003c0002t0124 a0003c0002t0144	a0002c0001t0125g0299 a0003c0002t0032g0300 a0003c0002t0124g0114 others(1): Show a0002c0001t0125g0299 a0003c0002t0032g0300 a0003c0002t0124g0114 a0003c0002t0144g0093	4	366	0.0109	-13	c.206 others(32): Show c.2064-3833_2064-3821delAAAAAAAAAAAAA	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	8/9			chr18	TogoVar
COLEC12_chr18_311737_505701	441402	ACACTGGG others(6): Show ACACTGGGCTTAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02055.hp2 others(1): Show HG01243.hp2 HG01891.hp2 HG02055.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0001 a0003c0002 a0001c0005 a0002c0001 a0003c0002	a0001c0005t0077 a0002c0001t0136 a0002c0001t0149 others(1): Show a0001c0005t0077 a0002c0001t0136 a0002c0001t0149 a0003c0002t0199	a0001c0005t0077g0304 a0002c0001t0136g0305 a0002c0001t0149g0260 others(1): Show a0001c0005t0077g0304 a0002c0001t0136g0305 a0002c0001t0149g0260 a0003c0002t0199g0129	4	366	0.0109	-13	c.58+ others(30): Show c.58+39292_58+39304delATTAAGCCCAGTG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COMP_chr19_18777773_18796305	18786763	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA19090.hp2 HG01517.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0165 a0001c0001t0001g0170	2	398	0.0050	-13	c.113 others(30): Show c.1136-126_1136-114delAAAAAAAAAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	10/18			chr19	TogoVar

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