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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
COL4A6_chrX_108150614_108443422	108377603	TTAA TTAA	T T	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01978.hp1 HG02083.hp1 others(29): Show HG01975.hp2 HG01978.hp1 HG02083.hp1 HG02109.hp2 HG02155.hp1 HG02165.hp1 HG02818.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18951.hp1 NA18957.hp2 NA18960.hp1 NA18967.hp1 NA18969.hp1 NA18984.hp1 NA18986.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp2 NA19068.hp1 NA19085.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0005 a0001c0009 others(3): Show a0001c0001 a0001c0005 a0001c0009 a0002c0003 a0002c0011 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0003 a0001c0009t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0011t0003 a0006c0007t0001	a0001c0001t0001g0020 a0001c0001t0002g0012 a0001c0001t0003g0039 others(29): Show a0001c0001t0001g0020 a0001c0001t0002g0012 a0001c0001t0003g0039 a0001c0005t0003g0037 a0001c0005t0003g0038 a0001c0005t0003g0040 a0001c0005t0003g0041 a0001c0005t0003g0042 a0001c0009t0003g0036 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0002g0003 a0002c0003t0002g0004 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0023 a0002c0003t0002g0032 a0002c0003t0002g0034 a0002c0003t0003g0031 a0002c0003t0005g0030 a0002c0011t0003g0033 a0006c0007t0001g0018 a0006c0007t0001g0019	32	234	0.1368	-3	c.63+ others(20): Show c.63+60336_63+60338delTTA		COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44						chrX	TogoVar
COL4A6_chrX_108150614_108443422	108382962	AAAT AAAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01109.hp1 others(21): Show HG00735.hp2 HG00741.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01981.hp1 HG02257.hp1 HG03491.hp2 HG03516.hp1 HG03704.hp2 HG04204.hp1 NA18952.hp1 NA18953.hp1 NA18962.hp1 NA18977.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA19063.hp1 NA19066.hp1 NA19079.hp1	a0001 a0012 a0013 a0001 a0012 a0013	a0001c0001 a0012c0023 a0013c0021 a0001c0001 a0012c0023 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0012c0023t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0012c0023t0001 a0013c0021t0001	a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0052 others(21): Show a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0002g0123 a0012c0023t0001g0112 a0013c0021t0001g0110	24	234	0.1026	-3	c.63+ others(20): Show c.63+54977_63+54979delATT		COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44						chrX	TogoVar
COL4A6_chrX_108150614_108443422	108402682	TATC TATC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02523.hp1 HG04228.hp1 HG02055.hp1 HG02523.hp1 HG04228.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0016 a0001c0001 a0005c0016	a0001c0001t0001 a0001c0001t0002 a0005c0016t0001 a0001c0001t0001 a0001c0001t0002 a0005c0016t0001	a0001c0001t0001g0005 a0001c0001t0002g0008 a0005c0016t0001g0007 a0001c0001t0001g0005 a0001c0001t0002g0008 a0005c0016t0001g0007	3	234	0.0128	-3	c.63+ others(20): Show c.63+35257_63+35259delGAT		COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44						chrX	TogoVar
COL4A6_chrX_108150614_108443422	108439945	CCTT CCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0212 a0002c0002t0002g0212	1	234	0.0043	-3	c.-17 others(14): Show c.-1752_-1750delAAG		COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding					1524		chrX	TogoVar
COL5A1_chr9_134636803_134849843	134665117	TGAA TGAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01943.hp1 HG02451.hp1 others(7): Show HG01243.hp1 HG01943.hp1 HG02451.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp1 HG03471.hp1 HG03669.hp2 HG06807.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0015 a0013c0055	a0001c0001t0009 a0001c0003t0003 a0001c0003t0010 others(7): Show a0001c0001t0009 a0001c0003t0003 a0001c0003t0010 a0001c0005t0009 a0001c0005t0014 a0001c0005t0045 a0001c0005t0050 a0001c0009t0001 a0001c0015t0001 a0013c0055t0007	a0001c0001t0009g0233 a0001c0003t0003g0255 a0001c0003t0010g0259 others(7): Show a0001c0001t0009g0233 a0001c0003t0003g0255 a0001c0003t0010g0259 a0001c0005t0009g0256 a0001c0005t0014g0258 a0001c0005t0045g0267 a0001c0005t0050g0271 a0001c0009t0001g0198 a0001c0015t0001g0268 a0013c0055t0007g0257	10	272	0.0368	-3	c.109 others(22): Show c.109+22822_109+22824delGAA		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65						chr9	TogoVar
COL5A1_chr9_134636803_134849843	134666387	CCTT CCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(70): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00673.hp1 HG01074.hp2 HG01109.hp1 HG01243.hp1 HG01257.hp1 HG01433.hp1 HG01934.hp1 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02129.hp1 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG06807.hp1 NA18906.hp1 NA18943.hp1 NA18950.hp1 NA18950.hp2 NA18971.hp2 NA18986.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp2 NA19064.hp2 NA19070.hp2 NA19085.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0010 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0015 a0001c0016 a0001c0024 a0001c0027 a0001c0031 a0001c0036 a0001c0039 a0001c0052 a0001c0057 a0002c0017 a0005c0062 a0006c0034 a0010c0037 a0012c0043 a0013c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0016 a0001c0002t0042 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0010 a0001c0003t0014 a0001c0003t0015 a0001c0003t0025 a0001c0003t0036 a0001c0003t0044 a0001c0004t0002 a0001c0004t0004 a0001c0004t0033 a0001c0005t0003 a0001c0005t0009 a0001c0005t0014 a0001c0005t0045 a0001c0005t0050 a0001c0006t0019 a0001c0006t0047 a0001c0006t0048 a0001c0007t0001 a0001c0007t0014 a0001c0009t0001 a0001c0009t0003 a0001c0009t0023 a0001c0015t0001 a0001c0015t0002 a0001c0016t0001 a0001c0016t0012 a0001c0016t0046 a0001c0024t0001 a0001c0027t0001 a0001c0031t0006 a0001c0036t0035 a0001c0039t0004 a0001c0052t0020 a0001c0057t0002 a0002c0017t0003 a0005c0062t0011 a0006c0034t0009 a0010c0037t0001 a0012c0043t0043 a0013c0055t0007	a0001c0001t0001g0041 a0001c0001t0002g0023 a0001c0001t0002g0111 others(70): Show a0001c0001t0001g0041 a0001c0001t0002g0023 a0001c0001t0002g0111 a0001c0001t0002g0122 a0001c0001t0002g0220 a0001c0001t0003g0133 a0001c0001t0005g0055 a0001c0001t0005g0119 a0001c0001t0007g0248 a0001c0001t0008g0260 a0001c0001t0009g0233 a0001c0001t0020g0194 a0001c0001t0037g0053 a0001c0002t0001g0050 a0001c0002t0001g0058 a0001c0002t0001g0221 a0001c0002t0001g0252 a0001c0002t0002g0056 a0001c0002t0002g0124 a0001c0002t0002g0171 a0001c0002t0005g0025 a0001c0002t0005g0059 a0001c0002t0005g0117 a0001c0002t0016g0237 a0001c0002t0042g0185 a0001c0003t0001g0123 a0001c0003t0001g0222 a0001c0003t0003g0255 a0001c0003t0004g0038 a0001c0003t0004g0262 a0001c0003t0010g0259 a0001c0003t0014g0247 a0001c0003t0015g0188 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0003t0036g0051 a0001c0003t0044g0186 a0001c0004t0002g0046 a0001c0004t0002g0052 a0001c0004t0002g0132 a0001c0004t0004g0224 a0001c0004t0033g0131 a0001c0005t0003g0265 a0001c0005t0009g0256 a0001c0005t0014g0258 a0001c0005t0045g0267 a0001c0005t0050g0271 a0001c0006t0019g0264 a0001c0006t0047g0019 a0001c0006t0048g0047 a0001c0007t0001g0195 a0001c0007t0014g0044 a0001c0009t0001g0198 a0001c0009t0003g0261 a0001c0009t0023g0263 a0001c0015t0001g0268 a0001c0015t0002g0054 a0001c0016t0001g0022 a0001c0016t0012g0021 a0001c0016t0046g0020 a0001c0024t0001g0207 a0001c0027t0001g0130 a0001c0031t0006g0048 a0001c0036t0035g0045 a0001c0039t0004g0197 a0001c0052t0020g0199 a0001c0057t0002g0024 a0002c0017t0003g0118 a0005c0062t0011g0026 a0006c0034t0009g0193 a0010c0037t0001g0057 a0012c0043t0043g0037 a0013c0055t0007g0257	73	272	0.2684	-3	c.109 others(22): Show c.109+24097_109+24099delTCT		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134703627	GTTT GTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(52): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00558.hp1 HG01074.hp1 HG01175.hp1 HG01257.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02109.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03579.hp2 HG03927.hp2 HG04115.hp1 HG06807.hp2 NA18747.hp2 NA18961.hp1 NA18961.hp2 NA18986.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19043.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0024 a0001c0025 a0001c0028 a0001c0036 a0001c0051 a0001c0057 a0001c0058 a0001c0061 a0002c0017 a0004c0029 a0011c0035	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(34): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0013 a0001c0002t0016 a0001c0002t0042 a0001c0003t0001 a0001c0003t0007 a0001c0003t0010 a0001c0003t0014 a0001c0005t0001 a0001c0005t0022 a0001c0006t0004 a0001c0007t0004 a0001c0008t0001 a0001c0008t0003 a0001c0008t0034 a0001c0009t0003 a0001c0024t0001 a0001c0024t0017 a0001c0025t0008 a0001c0025t0015 a0001c0028t0038 a0001c0036t0035 a0001c0051t0007 a0001c0057t0002 a0001c0058t0002 a0001c0061t0013 a0002c0017t0003 a0004c0029t0002 a0004c0029t0005 a0011c0035t0012	a0001c0001t0004g0102 a0001c0001t0005g0119 a0001c0001t0009g0109 others(52): Show a0001c0001t0004g0102 a0001c0001t0005g0119 a0001c0001t0009g0109 a0001c0002t0001g0035 a0001c0002t0001g0058 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0177 a0001c0002t0001g0209 a0001c0002t0002g0030 a0001c0002t0002g0056 a0001c0002t0002g0074 a0001c0002t0002g0077 a0001c0002t0002g0096 a0001c0002t0002g0124 a0001c0002t0002g0160 a0001c0002t0003g0083 a0001c0002t0004g0015 a0001c0002t0004g0150 a0001c0002t0005g0059 a0001c0002t0005g0060 a0001c0002t0005g0117 a0001c0002t0005g0211 a0001c0002t0013g0140 a0001c0002t0013g0168 a0001c0002t0016g0237 a0001c0002t0042g0185 a0001c0003t0001g0123 a0001c0003t0001g0196 a0001c0003t0007g0003 a0001c0003t0010g0039 a0001c0003t0014g0247 a0001c0005t0001g0107 a0001c0005t0022g0085 a0001c0006t0004g0184 a0001c0007t0004g0028 a0001c0008t0001g0114 a0001c0008t0001g0149 a0001c0008t0003g0017 a0001c0008t0034g0151 a0001c0009t0003g0261 a0001c0024t0001g0207 a0001c0024t0017g0180 a0001c0025t0008g0203 a0001c0025t0015g0007 a0001c0028t0038g0138 a0001c0036t0035g0045 a0001c0051t0007g0202 a0001c0057t0002g0024 a0001c0058t0002g0127 a0001c0061t0013g0178 a0002c0017t0003g0223 a0004c0029t0002g0097 a0004c0029t0005g0100 a0011c0035t0012g0008	55	272	0.2022	-3	c.654 others(20): Show c.654+2320_654+2322delTTT		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134712241	CCTT CCTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01257.hp1 HG01934.hp1 others(1): Show HG00741.hp2 HG01257.hp1 HG01934.hp1 HG01993.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0010c0037	a0001c0001t0005 a0001c0003t0001 a0001c0004t0002 others(1): Show a0001c0001t0005 a0001c0003t0001 a0001c0004t0002 a0010c0037t0001	a0001c0001t0005g0119 a0001c0003t0001g0123 a0001c0004t0002g0228 others(1): Show a0001c0001t0005g0119 a0001c0003t0001g0123 a0001c0004t0002g0228 a0010c0037t0001g0057	4	272	0.0147	-3	c.654 others(22): Show c.654+10913_654+10915delTTC		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134715977	CTGG CTGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(155): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02647.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18961.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0010 a0013	a0001c0001 a0001c0002 a0001c0003 others(35): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0016 a0001c0019 a0001c0023 a0001c0026 a0001c0027 a0001c0028 a0001c0045 a0001c0046 a0001c0047 a0001c0056 a0001c0057 a0001c0058 a0001c0060 a0001c0061 a0001c0065 a0002c0013 a0002c0017 a0002c0041 a0002c0042 a0004c0029 a0004c0067 a0005c0062 a0005c0063 a0006c0040 a0010c0037 a0013c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(88): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0027 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0001c0002t0013 a0001c0002t0016 a0001c0002t0042 a0001c0002t0055 a0001c0002t0056 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0003t0028 a0001c0003t0032 a0001c0003t0044 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0011 a0001c0005t0006 a0001c0005t0014 a0001c0005t0022 a0001c0006t0047 a0001c0007t0006 a0001c0007t0015 a0001c0007t0023 a0001c0008t0001 a0001c0008t0002 a0001c0008t0003 a0001c0008t0011 a0001c0008t0034 a0001c0009t0001 a0001c0010t0001 a0001c0010t0026 a0001c0011t0001 a0001c0011t0003 a0001c0011t0007 a0001c0014t0002 a0001c0016t0001 a0001c0016t0012 a0001c0016t0046 a0001c0019t0001 a0001c0023t0001 a0001c0023t0002 a0001c0026t0006 a0001c0026t0041 a0001c0027t0001 a0001c0027t0002 a0001c0028t0004 a0001c0028t0038 a0001c0045t0004 a0001c0046t0001 a0001c0047t0003 a0001c0056t0001 a0001c0057t0002 a0001c0058t0002 a0001c0060t0004 a0001c0061t0013 a0001c0065t0003 a0002c0013t0003 a0002c0013t0021 a0002c0017t0003 a0002c0041t0002 a0002c0042t0002 a0004c0029t0002 a0004c0029t0005 a0004c0067t0001 a0005c0062t0011 a0005c0063t0002 a0006c0040t0009 a0010c0037t0001 a0013c0055t0007	a0001c0001t0001g0033 a0001c0001t0001g0212 a0001c0001t0002g0023 others(154): Show a0001c0001t0001g0033 a0001c0001t0001g0212 a0001c0001t0002g0023 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0122 a0001c0001t0002g0139 a0001c0001t0002g0165 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0002g0245 a0001c0001t0003g0133 a0001c0001t0003g0146 a0001c0001t0005g0119 a0001c0001t0005g0155 a0001c0001t0005g0249 a0001c0001t0006g0110 a0001c0001t0007g0215 a0001c0001t0007g0248 a0001c0001t0008g0260 a0001c0001t0009g0109 a0001c0001t0011g0229 a0001c0001t0027g0210 a0001c0001t0031g0075 a0001c0002t0001g0018 a0001c0002t0001g0035 a0001c0002t0001g0050 a0001c0002t0001g0058 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0144 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0177 a0001c0002t0001g0209 a0001c0002t0001g0221 a0001c0002t0001g0236 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0002g0030 a0001c0002t0002g0056 a0001c0002t0002g0062 a0001c0002t0002g0077 a0001c0002t0002g0096 a0001c0002t0002g0124 a0001c0002t0002g0126 a0001c0002t0002g0160 a0001c0002t0002g0171 a0001c0002t0003g0083 a0001c0002t0003g0154 a0001c0002t0004g0015 a0001c0002t0004g0150 a0001c0002t0005g0025 a0001c0002t0005g0059 a0001c0002t0005g0060 a0001c0002t0005g0063 a0001c0002t0005g0065 a0001c0002t0005g0117 a0001c0002t0005g0211 a0001c0002t0006g0250 a0001c0002t0011g0095 a0001c0002t0013g0140 a0001c0002t0013g0168 a0001c0002t0016g0237 a0001c0002t0042g0185 a0001c0002t0055g0152 a0001c0002t0056g0162 a0001c0003t0001g0123 a0001c0003t0001g0153 a0001c0003t0001g0196 a0001c0003t0001g0205 a0001c0003t0001g0222 a0001c0003t0002g0001 a0001c0003t0002g0142 a0001c0003t0002g0246 a0001c0003t0003g0201 a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0003t0005g0070 a0001c0003t0007g0003 a0001c0003t0008g0078 a0001c0003t0008g0187 a0001c0003t0028g0135 a0001c0003t0032g0004 a0001c0003t0044g0186 a0001c0004t0001g0170 a0001c0004t0001g0225 a0001c0004t0002g0228 a0001c0004t0003g0064 a0001c0004t0004g0224 a0001c0004t0011g0080 a0001c0005t0006g0040 a0001c0005t0014g0258 a0001c0005t0022g0085 a0001c0006t0047g0019 a0001c0007t0006g0002 a0001c0007t0015g0200 a0001c0007t0023g0232 a0001c0008t0001g0087 a0001c0008t0001g0114 a0001c0008t0001g0149 a0001c0008t0002g0092 a0001c0008t0003g0017 a0001c0008t0011g0091 a0001c0008t0034g0151 a0001c0009t0001g0198 a0001c0010t0001g0005 a0001c0010t0001g0006 a0001c0010t0026g0049 a0001c0011t0001g0191 a0001c0011t0001g0206 a0001c0011t0003g0143 a0001c0011t0007g0027 a0001c0014t0002g0066 a0001c0014t0002g0067 a0001c0014t0002g0161 a0001c0016t0001g0022 a0001c0016t0012g0021 a0001c0016t0046g0020 a0001c0019t0001g0214 a0001c0023t0001g0014 a0001c0023t0002g0113 a0001c0026t0006g0101 a0001c0026t0041g0036 a0001c0027t0001g0130 a0001c0027t0002g0090 a0001c0028t0004g0213 a0001c0028t0038g0138 a0001c0045t0004g0104 a0001c0046t0001g0239 a0001c0047t0003g0032 a0001c0056t0001g0084 a0001c0057t0002g0024 a0001c0058t0002g0127 a0001c0060t0004g0240 a0001c0061t0013g0178 a0001c0065t0003g0009 a0002c0013t0003g0076 a0002c0013t0021g0071 a0002c0017t0003g0118 a0002c0017t0003g0163 a0002c0017t0003g0223 a0002c0041t0002g0164 a0002c0042t0002g0234 a0004c0029t0002g0097 a0004c0029t0005g0100 a0004c0067t0001g0094 a0005c0062t0011g0026 a0005c0063t0002g0072 a0006c0040t0009g0189 a0010c0037t0001g0057 a0013c0055t0007g0257	158	272	0.5809	-3	c.655 others(22): Show c.655-11262_655-11260delGTG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134752419	CGGG CGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01167.hp2 others(20): Show HG00140.hp1 HG00741.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02280.hp2 HG02622.hp1 HG02723.hp2 HG02735.hp2 HG02922.hp1 HG03130.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0026 a0001c0039 a0001c0044 a0001c0045 a0001c0049 a0012c0043	a0001c0001t0001 a0001c0001t0004 a0001c0001t0059 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0059 a0001c0003t0015 a0001c0004t0002 a0001c0004t0004 a0001c0004t0018 a0001c0005t0003 a0001c0006t0019 a0001c0007t0004 a0001c0007t0006 a0001c0007t0017 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0026t0006 a0001c0026t0041 a0001c0039t0004 a0001c0044t0057 a0001c0045t0004 a0001c0049t0003 a0012c0043t0043	a0001c0001t0001g0147 a0001c0001t0004g0102 a0001c0001t0059g0093 others(20): Show a0001c0001t0001g0147 a0001c0001t0004g0102 a0001c0001t0059g0093 a0001c0003t0015g0188 a0001c0004t0002g0046 a0001c0004t0004g0224 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0005t0003g0265 a0001c0006t0019g0264 a0001c0007t0004g0028 a0001c0007t0006g0002 a0001c0007t0017g0241 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0086 a0001c0026t0006g0101 a0001c0026t0041g0036 a0001c0039t0004g0197 a0001c0044t0057g0042 a0001c0045t0004g0104 a0001c0049t0003g0183 a0012c0043t0043g0037	23	272	0.0846	-3	c.166 others(20): Show c.1663-160_1663-158delGGG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	13/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760399	CCCA CCCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02165.hp2 HG02717.hp1 others(7): Show HG01884.hp2 HG02165.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02922.hp1 HG02970.hp2 HG03471.hp2 HG03688.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0007 others(2): Show a0001c0002 a0001c0005 a0001c0007 a0001c0025 a0001c0026	a0001c0002t0001 a0001c0005t0022 a0001c0005t0050 others(7): Show a0001c0002t0001 a0001c0005t0022 a0001c0005t0050 a0001c0005t0054 a0001c0007t0006 a0001c0007t0014 a0001c0025t0008 a0001c0025t0015 a0001c0026t0006 a0001c0026t0041	a0001c0002t0001g0018 a0001c0005t0022g0085 a0001c0005t0050g0271 others(7): Show a0001c0002t0001g0018 a0001c0005t0022g0085 a0001c0005t0050g0271 a0001c0005t0054g0167 a0001c0007t0006g0002 a0001c0007t0014g0044 a0001c0025t0008g0203 a0001c0025t0015g0007 a0001c0026t0006g0101 a0001c0026t0041g0036	10	272	0.0368	-3	c.193 others(22): Show c.1936-1524_1936-1522delCAC		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134810865	CCTT CCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(21): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00741.hp1 HG01071.hp2 HG01167.hp1 HG01168.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02717.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG04115.hp2 HG04199.hp1 NA18995.hp1 NA19057.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0006 others(11): Show a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0016 a0001c0019 a0001c0046 a0001c0047 a0001c0057 a0001c0058 a0001c0065 a0002c0041	a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 others(20): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0016 a0001c0005t0009 a0001c0006t0001 a0001c0006t0019 a0001c0007t0006 a0001c0007t0017 a0001c0011t0001 a0001c0011t0007 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0016t0012 a0001c0019t0001 a0001c0046t0001 a0001c0047t0003 a0001c0057t0002 a0001c0058t0002 a0001c0065t0003 a0002c0041t0002	a0001c0003t0001g0205 a0001c0003t0003g0201 a0001c0003t0004g0262 others(21): Show a0001c0003t0001g0205 a0001c0003t0003g0201 a0001c0003t0004g0262 a0001c0003t0007g0003 a0001c0003t0016g0099 a0001c0005t0009g0256 a0001c0006t0001g0108 a0001c0006t0019g0264 a0001c0007t0006g0002 a0001c0007t0017g0241 a0001c0011t0001g0191 a0001c0011t0001g0206 a0001c0011t0007g0027 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0086 a0001c0016t0012g0021 a0001c0019t0001g0214 a0001c0046t0001g0239 a0001c0047t0003g0032 a0001c0057t0002g0024 a0001c0058t0002g0127 a0001c0065t0003g0009 a0002c0041t0002g0164	24	272	0.0882	-3	c.352 others(20): Show c.3529-469_3529-467delTTC		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	44/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134826851	TGGG TGGG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02723.hp1 others(1): Show HG02145.hp1 HG02572.hp1 HG02723.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0025	a0001c0001t0009 a0001c0005t0022 a0001c0007t0017 others(1): Show a0001c0001t0009 a0001c0005t0022 a0001c0007t0017 a0001c0025t0015	a0001c0001t0009g0233 a0001c0005t0022g0085 a0001c0007t0017g0241 others(1): Show a0001c0001t0009g0233 a0001c0005t0022g0085 a0001c0007t0017g0241 a0001c0025t0015g0007	4	272	0.0147	-3	c.506 others(20): Show c.5067+948_5067+950delGGG		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65						chr9	TogoVar
COL5A1_chr9_134636803_134849843	134831274	CATT CATT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18971.hp1 NA19011.hp1 NA18966.hp2 NA18971.hp1 NA19011.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0066 a0001c0014t0002g0067 a0001c0014t0002g0161 a0001c0014t0002g0066 a0001c0014t0002g0067 a0001c0014t0002g0161	3	272	0.0110	-3	c.513 others(22): Show c.5136+1231_5136+1233delATT		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	64/65						chr9	TogoVar
COL5A1_chr9_134636803_134849843	134837925	ATTC ATTC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02976.hp1 NA20129.hp1 HG02886.hp1 HG02976.hp1 NA20129.hp1	a0001 a0001	a0001c0018 a0001c0025 a0001c0018 a0001c0025	a0001c0018t0008 a0001c0025t0008 a0001c0018t0008 a0001c0025t0008	a0001c0018t0008g0179 a0001c0018t0008g0182 a0001c0025t0008g0203 a0001c0018t0008g0179 a0001c0018t0008g0182 a0001c0025t0008g0203	3	272	0.0110	-3	c.537 others(22): Show c.5370+2726_5370+2728delTCT		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	65/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189048397	CAGA CAGA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG01169.hp2 others(18): Show HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01943.hp1 HG01981.hp1 HG02273.hp2 HG02293.hp2 NA18940.hp2 NA18953.hp2 NA18975.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA18998.hp1 NA19065.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0027 a0001c0003 a0001c0027	a0001c0003t0001 a0001c0003t0011 a0001c0027t0001 a0001c0003t0001 a0001c0003t0011 a0001c0027t0001	a0001c0003t0001g0150 a0001c0003t0001g0164 a0001c0003t0001g0175 others(18): Show a0001c0003t0001g0150 a0001c0003t0001g0164 a0001c0003t0001g0175 a0001c0003t0001g0194 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0234 a0001c0003t0011g0168 a0001c0003t0011g0169 a0001c0027t0001g0195	21	248	0.0847	-3	c.314 others(20): Show c.3148-138_3148-136delTCT		COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	44/53						chr2	TogoVar
COL5A2_chr2_189026898_189184761	189080363	TATC TATC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp2 HG04199.hp1 others(1): Show HG01081.hp2 HG01192.hp2 HG04199.hp1 NA19065.hp1	a0002 a0009 a0002 a0009	a0002c0006 a0009c0016 a0002c0006 a0009c0016	a0002c0006t0005 a0002c0006t0017 a0009c0016t0006 a0002c0006t0005 a0002c0006t0017 a0009c0016t0006	a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 others(1): Show a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 a0009c0016t0006g0130	4	248	0.0161	-3	c.907 others(18): Show c.907-335_907-333delGAT		COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	13/53						chr2	TogoVar
COL5A2_chr2_189026898_189184761	189117732	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18992.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19070.hp1 NA19076.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0004 others(18): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0001c0019 a0001c0021 a0001c0030 a0002c0006 a0003c0014 a0004c0013 a0005c0011 a0006c0009 a0007c0015 a0008c0029 a0009c0016 a0010c0024 a0011c0023 a0013c0017 a0014c0020 a0015c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0002t0002 a0001c0002t0020 a0001c0004t0001 a0001c0004t0007 a0001c0004t0021 a0001c0008t0001 a0001c0010t0001 a0001c0010t0007 a0001c0019t0001 a0001c0021t0002 a0001c0030t0016 a0002c0006t0005 a0002c0006t0017 a0003c0014t0001 a0004c0013t0001 a0005c0011t0001 a0006c0009t0001 a0007c0015t0001 a0008c0029t0001 a0009c0016t0006 a0010c0024t0004 a0011c0023t0004 a0013c0017t0006 a0014c0020t0001 a0015c0022t0002	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(146): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0192 a0001c0001t0003g0045 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0135 a0001c0001t0004g0081 a0001c0001t0007g0057 a0001c0001t0013g0013 a0001c0001t0022g0086 a0001c0001t0023g0009 a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0052 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0092 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0020g0038 a0001c0004t0001g0002 a0001c0004t0001g0056 a0001c0004t0001g0160 a0001c0004t0001g0165 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0212 a0001c0004t0001g0217 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0007g0216 a0001c0004t0021g0134 a0001c0008t0001g0213 a0001c0008t0001g0214 a0001c0008t0001g0215 a0001c0010t0001g0101 a0001c0010t0007g0075 a0001c0019t0001g0072 a0001c0021t0002g0142 a0001c0030t0016g0017 a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 a0003c0014t0001g0039 a0003c0014t0001g0120 a0004c0013t0001g0113 a0004c0013t0001g0114 a0005c0011t0001g0077 a0005c0011t0001g0080 a0006c0009t0001g0019 a0006c0009t0001g0027 a0007c0015t0001g0108 a0008c0029t0001g0235 a0009c0016t0006g0130 a0010c0024t0004g0065 a0011c0023t0004g0117 a0013c0017t0006g0034 a0014c0020t0001g0123 a0015c0022t0002g0035	153	248	0.6169	-3	c.98- others(18): Show c.98-7286_98-7284delAAA		COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	1/53						chr2	TogoVar
COL5A2_chr2_189026898_189184761	189121736	CAAA CAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02818.hp2 others(3): Show HG02280.hp1 HG02622.hp2 HG02818.hp2 HG02922.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0062 a0001c0001t0001g0124 a0001c0001t0001g0001 a0001c0001t0001g0062 a0001c0001t0001g0124	6	248	0.0242	-3	c.98- others(20): Show c.98-11290_98-11288delTTT		COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	1/53						chr2	TogoVar
COL5A2_chr2_189026898_189184761	189133114	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG01081.hp2 others(30): Show HG00099.hp1 HG00597.hp1 HG01081.hp2 HG01106.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02273.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18960.hp1 NA18969.hp2 NA18979.hp1 NA18983.hp1 NA19057.hp1 NA19065.hp1 NA19084.hp2 NA19091.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0009 a0015	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0006 a0006c0009 a0009c0016 a0015c0022	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0020 a0001c0004t0021 a0002c0006t0005 a0002c0006t0017 a0006c0009t0001 a0009c0016t0006 a0015c0022t0002	a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0030 others(30): Show a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0135 a0001c0002t0002g0016 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0020g0038 a0001c0004t0021g0134 a0002c0006t0005g0131 a0002c0006t0005g0132 a0002c0006t0017g0136 a0006c0009t0001g0019 a0006c0009t0001g0027 a0009c0016t0006g0130 a0015c0022t0002g0035	33	248	0.1331	-3	c.98- others(20): Show c.98-22668_98-22666delAAA		COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	1/53						chr2	TogoVar
COL5A3_chr19_9954561_10015504	9979791	GAAA GAAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02109.hp2 others(20): Show HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03516.hp2 HG06807.hp1 NA18957.hp1 NA19240.hp2 NA20129.hp1	a0001 a0003 a0006 others(8): Show a0001 a0003 a0006 a0013 a0021 a0033 a0043 a0064 a0066 a0067 a0071	a0001c0033 a0003c0009 a0006c0082 others(8): Show a0001c0033 a0003c0009 a0006c0082 a0013c0008 a0021c0038 a0033c0042 a0043c0061 a0064c0076 a0066c0106 a0067c0100 a0071c0095	a0001c0033t0011 a0003c0009t0003 a0006c0082t0007 others(8): Show a0001c0033t0011 a0003c0009t0003 a0006c0082t0007 a0013c0008t0001 a0021c0038t0001 a0033c0042t0001 a0043c0061t0003 a0064c0076t0007 a0066c0106t0002 a0067c0100t0001 a0071c0095t0002	a0001c0033t0011g0154 a0001c0033t0011g0168 a0003c0009t0003g0077 others(20): Show a0001c0033t0011g0154 a0001c0033t0011g0168 a0003c0009t0003g0077 a0006c0082t0007g0169 a0013c0008t0001g0044 a0013c0008t0001g0045 a0013c0008t0001g0046 a0013c0008t0001g0047 a0013c0008t0001g0048 a0013c0008t0001g0049 a0013c0008t0001g0050 a0013c0008t0001g0051 a0013c0008t0001g0052 a0013c0008t0001g0405 a0021c0038t0001g0108 a0021c0038t0001g0111 a0033c0042t0001g0115 a0033c0042t0001g0116 a0043c0061t0003g0260 a0064c0076t0007g0042 a0066c0106t0002g0043 a0067c0100t0001g0038 a0071c0095t0002g0036	23	412	0.0558	-3	c.271 others(18): Show c.2712+45_2712+47delTTT		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	37/66						chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983675	AAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01168.hp1 others(23): Show HG00639.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02698.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp2 HG03710.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0012 a0013 a0020 others(7): Show a0012 a0013 a0020 a0021 a0022 a0029 a0064 a0066 a0067 a0071	a0012c0087 a0013c0008 a0020c0035 others(9): Show a0012c0087 a0013c0008 a0020c0035 a0020c0097 a0021c0038 a0021c0066 a0022c0030 a0029c0088 a0064c0076 a0066c0106 a0067c0100 a0071c0095	a0012c0087t0001 a0013c0008t0001 a0020c0035t0002 others(9): Show a0012c0087t0001 a0013c0008t0001 a0020c0035t0002 a0020c0097t0002 a0021c0038t0001 a0021c0066t0003 a0022c0030t0002 a0029c0088t0002 a0064c0076t0007 a0066c0106t0002 a0067c0100t0001 a0071c0095t0002	a0012c0087t0001g0041 a0013c0008t0001g0044 a0013c0008t0001g0045 others(22): Show a0012c0087t0001g0041 a0013c0008t0001g0044 a0013c0008t0001g0045 a0013c0008t0001g0046 a0013c0008t0001g0047 a0013c0008t0001g0048 a0013c0008t0001g0049 a0013c0008t0001g0050 a0013c0008t0001g0051 a0013c0008t0001g0052 a0013c0008t0001g0405 a0020c0035t0002g0003 a0020c0035t0002g0403 a0020c0097t0002g0025 a0021c0038t0001g0108 a0021c0038t0001g0111 a0021c0066t0003g0295 a0022c0030t0002g0195 a0022c0030t0002g0293 a0022c0030t0002g0294 a0029c0088t0002g0255 a0064c0076t0007g0042 a0066c0106t0002g0043 a0067c0100t0001g0038 a0071c0095t0002g0036	26	412	0.0631	-3	c.240 others(22): Show c.2407-1560_2407-1558delCTT		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66						chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983721	AAAG AAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(18): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00673.hp2 HG02135.hp2 HG03195.hp1 HG03704.hp1 HG04115.hp1 HG04199.hp2 NA18940.hp2 NA18948.hp2 NA18951.hp2 NA18969.hp2 NA18972.hp1 NA18986.hp2 NA19000.hp2 NA19057.hp2 NA19063.hp1 NA19079.hp1 NA19081.hp2 NA19087.hp2	a0001 a0004 a0034 others(3): Show a0001 a0004 a0034 a0045 a0061 a0075	a0001c0040 a0004c0010 a0004c0013 others(5): Show a0001c0040 a0004c0010 a0004c0013 a0004c0108 a0034c0078 a0045c0071 a0061c0109 a0075c0091	a0001c0040t0005 a0004c0010t0001 a0004c0010t0004 others(8): Show a0001c0040t0005 a0004c0010t0001 a0004c0010t0004 a0004c0010t0023 a0004c0013t0004 a0004c0013t0019 a0004c0108t0004 a0034c0078t0001 a0045c0071t0004 a0061c0109t0004 a0075c0091t0004	a0001c0040t0005g0127 a0001c0040t0005g0158 a0004c0010t0001g0267 others(18): Show a0001c0040t0005g0127 a0001c0040t0005g0158 a0004c0010t0001g0267 a0004c0010t0004g0033 a0004c0010t0004g0157 a0004c0010t0004g0159 a0004c0010t0004g0160 a0004c0010t0004g0161 a0004c0010t0004g0162 a0004c0010t0023g0034 a0004c0013t0004g0072 a0004c0013t0004g0083 a0004c0013t0004g0098 a0004c0013t0004g0099 a0004c0013t0004g0308 a0004c0013t0019g0097 a0004c0108t0004g0362 a0034c0078t0001g0389 a0045c0071t0004g0155 a0061c0109t0004g0081 a0075c0091t0004g0014	21	412	0.0510	-3	c.240 others(22): Show c.2407-1606_2407-1604delCTT		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66						chr19	TogoVar
COL5A3_chr19_9954561_10015504	9984942	ATTT ATTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01192.hp2 HG01256.hp1 others(10): Show HG01167.hp1 HG01192.hp2 HG01256.hp1 HG02055.hp1 HG02155.hp2 HG02922.hp2 HG03490.hp2 NA18612.hp2 NA18948.hp1 NA18980.hp2 NA19066.hp1 NA19070.hp2 NA19091.hp1	a0002 a0003 a0006 others(4): Show a0002 a0003 a0006 a0010 a0011 a0012 a0016	a0002c0002 a0002c0020 a0002c0126 others(8): Show a0002c0002 a0002c0020 a0002c0126 a0003c0009 a0003c0011 a0006c0014 a0006c0055 a0010c0015 a0011c0006 a0012c0087 a0016c0036	a0002c0002t0001 a0002c0002t0002 a0002c0020t0001 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0020t0001 a0002c0126t0001 a0003c0009t0003 a0003c0011t0003 a0006c0014t0001 a0006c0055t0001 a0010c0015t0001 a0011c0006t0018 a0012c0087t0001 a0016c0036t0002	a0002c0002t0001g0315 a0002c0002t0002g0078 a0002c0002t0002g0364 others(10): Show a0002c0002t0001g0315 a0002c0002t0002g0078 a0002c0002t0002g0364 a0002c0020t0001g0232 a0002c0126t0001g0118 a0003c0009t0003g0349 a0003c0011t0003g0057 a0006c0014t0001g0386 a0006c0055t0001g0399 a0010c0015t0001g0104 a0011c0006t0018g0056 a0012c0087t0001g0041 a0016c0036t0002g0148	13	412	0.0316	-3	c.240 others(20): Show c.2406+897_2406+899delAAA		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66						chr19	TogoVar
COL5A3_chr19_9954561_10015504	10000452	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01952.hp2 HG02055.hp1 others(12): Show HG01884.hp1 HG01952.hp2 HG02055.hp1 HG02258.hp1 HG02572.hp2 HG02647.hp1 HG02809.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp2 HG03139.hp2 NA18522.hp1 NA19000.hp2 NA19043.hp2 NA20129.hp2	a0012 a0014 a0017 others(6): Show a0012 a0014 a0017 a0027 a0030 a0039 a0045 a0054 a0069	a0012c0087 a0014c0012 a0017c0120 others(6): Show a0012c0087 a0014c0012 a0017c0120 a0027c0084 a0030c0135 a0039c0067 a0045c0071 a0054c0118 a0069c0099	a0012c0087t0001 a0014c0012t0001 a0017c0120t0002 others(6): Show a0012c0087t0001 a0014c0012t0001 a0017c0120t0002 a0027c0084t0012 a0030c0135t0004 a0039c0067t0002 a0045c0071t0004 a0054c0118t0002 a0069c0099t0002	a0012c0087t0001g0041 a0014c0012t0001g0200 a0014c0012t0001g0201 others(12): Show a0012c0087t0001g0041 a0014c0012t0001g0200 a0014c0012t0001g0201 a0014c0012t0001g0202 a0014c0012t0001g0203 a0014c0012t0001g0204 a0014c0012t0001g0205 a0014c0012t0001g0332 a0017c0120t0002g0400 a0027c0084t0012g0167 a0030c0135t0004g0336 a0039c0067t0002g0335 a0045c0071t0004g0155 a0054c0118t0002g0287 a0069c0099t0002g0040	15	412	0.0364	-3	c.111 others(22): Show c.1110+1069_1110+1071delAAA		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	8/66						chr19	TogoVar
COL5A3_chr19_9954561_10015504	10009162	GTGT GTGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG03098.hp2 HG02280.hp2 HG02965.hp1 HG03098.hp2	a0067 a0068 a0069 a0067 a0068 a0069	a0067c0100 a0068c0101 a0069c0099 a0067c0100 a0068c0101 a0069c0099	a0067c0100t0001 a0068c0101t0004 a0069c0099t0002 a0067c0100t0001 a0068c0101t0004 a0069c0099t0002	a0067c0100t0001g0038 a0068c0101t0004g0039 a0069c0099t0002g0040 a0067c0100t0001g0038 a0068c0101t0004g0039 a0069c0099t0002g0040	3	412	0.0073	-3	c.88+ others(18): Show c.88+1133_88+1135delACA		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	1/66						chr19	TogoVar
COL5A3_chr19_9954561_10015504	10009163	TGTG TGTG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG03831.hp1 others(1): Show HG00642.hp2 HG00735.hp2 HG03831.hp1 HG04199.hp1	a0008 a0018 a0008 a0018	a0008c0004 a0018c0018 a0008c0004 a0018c0018	a0008c0004t0001 a0018c0018t0003 a0018c0018t0006 a0008c0004t0001 a0018c0018t0003 a0018c0018t0006	a0008c0004t0001g0008 a0018c0018t0003g0010 a0018c0018t0003g0011 others(1): Show a0008c0004t0001g0008 a0018c0018t0003g0010 a0018c0018t0003g0011 a0018c0018t0006g0009	4	412	0.0097	-3	c.88+ others(18): Show c.88+1132_88+1134delCAC		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	1/66						chr19	TogoVar
COL6A1_chr21_45976770_46010048	45980160	GATA GATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(57): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18945.hp1 NA18945.hp2 NA18983.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0006 a0008 a0009 a0011 a0012 a0017 a0018 a0019 a0020	a0001c0001 a0001c0003 a0001c0017 others(14): Show a0001c0001 a0001c0003 a0001c0017 a0001c0021 a0001c0024 a0002c0002 a0002c0008 a0003c0004 a0006c0011 a0008c0015 a0009c0014 a0011c0019 a0012c0033 a0017c0029 a0018c0031 a0019c0032 a0020c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0015 a0001c0017t0003 a0001c0021t0002 a0001c0024t0003 a0002c0002t0004 a0002c0008t0004 a0003c0004t0002 a0006c0011t0002 a0008c0015t0002 a0009c0014t0002 a0011c0019t0003 a0012c0033t0002 a0017c0029t0003 a0018c0031t0013 a0019c0032t0002 a0020c0013t0004	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 others(57): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0035 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0121 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0001t0016g0100 a0001c0003t0002g0017 a0001c0003t0003g0015 a0001c0003t0003g0019 a0001c0003t0003g0026 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0036 a0001c0003t0003g0124 a0001c0003t0006g0005 a0001c0003t0006g0024 a0001c0003t0006g0031 a0001c0003t0006g0059 a0001c0003t0015g0105 a0001c0017t0003g0016 a0001c0021t0002g0093 a0001c0024t0003g0030 a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0025 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0008t0004g0032 a0003c0004t0002g0091 a0003c0004t0002g0099 a0006c0011t0002g0097 a0006c0011t0002g0110 a0008c0015t0002g0089 a0009c0014t0002g0087 a0011c0019t0003g0114 a0012c0033t0002g0080 a0017c0029t0003g0022 a0018c0031t0013g0029 a0019c0032t0002g0008 a0020c0013t0004g0018	60	128	0.4688	-3	c.-16 others(14): Show c.-1690_-1688delATA		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					1609		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45980178	AAGG AAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG01255.hp2 others(29): Show HG00733.hp2 HG01123.hp1 HG01255.hp2 HG01515.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03492.hp2 NA18983.hp1 NA19005.hp1 NA19043.hp1 NA19043.hp2 NA19070.hp2 NA19079.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0013 a0014 a0015 a0016	a0001c0003 a0001c0010 a0001c0012 others(9): Show a0001c0003 a0001c0010 a0001c0012 a0001c0018 a0001c0022 a0002c0002 a0004c0005 a0004c0030 a0013c0020 a0014c0025 a0015c0027 a0016c0026	a0001c0003t0001 a0001c0003t0007 a0001c0010t0005 others(13): Show a0001c0003t0001 a0001c0003t0007 a0001c0010t0005 a0001c0012t0005 a0001c0018t0001 a0001c0022t0007 a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0004c0005t0001 a0004c0030t0001 a0013c0020t0002 a0014c0025t0001 a0015c0027t0005 a0016c0026t0002	a0001c0003t0001g0115 a0001c0003t0007g0108 a0001c0010t0005g0072 others(29): Show a0001c0003t0001g0115 a0001c0003t0007g0108 a0001c0010t0005g0072 a0001c0010t0005g0075 a0001c0012t0005g0073 a0001c0012t0005g0074 a0001c0018t0001g0049 a0001c0022t0007g0046 a0002c0002t0001g0012 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0050 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0008g0117 a0002c0002t0008g0118 a0002c0002t0009g0038 a0002c0002t0009g0084 a0002c0002t0009g0122 a0002c0002t0010g0039 a0002c0002t0010g0123 a0004c0005t0001g0041 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0047 a0004c0005t0001g0058 a0004c0030t0001g0085 a0013c0020t0002g0002 a0014c0025t0001g0042 a0015c0027t0005g0076 a0016c0026t0002g0116	32	128	0.2500	-3	c.-16 others(14): Show c.-1672_-1670delAGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding					1591		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46099889	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00738.hp1 others(9): Show HG00140.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01346.hp1 HG02080.hp1 NA18988.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 a0001c0011t0001	a0001c0001t0001g0337 a0001c0002t0002g0270 a0001c0002t0002g0271 others(8): Show a0001c0001t0001g0337 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0009g0020 a0001c0002t0009g0256 a0001c0002t0009g0265 a0001c0011t0001g0335 a0001c0011t0001g0336	12	372	0.0323	-3	c.-28 others(20): Show c.-28+1737_-28+1739delTTT		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46101847	ATTT ATTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01433.hp1 HG02145.hp1 others(6): Show HG00099.hp2 HG01433.hp1 HG02145.hp1 HG02559.hp1 HG02615.hp2 HG02970.hp1 HG04204.hp1 NA18906.hp2 NA18949.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0002c0003 a0002c0008 others(1): Show a0001c0006 a0002c0003 a0002c0008 a0003c0007	a0001c0006t0005 a0002c0003t0003 a0002c0003t0008 others(2): Show a0001c0006t0005 a0002c0003t0003 a0002c0003t0008 a0002c0008t0005 a0003c0007t0007	a0001c0006t0005g0057 a0001c0006t0005g0058 a0001c0006t0005g0059 others(6): Show a0001c0006t0005g0057 a0001c0006t0005g0058 a0001c0006t0005g0059 a0002c0003t0003g0070 a0002c0003t0003g0228 a0002c0003t0008g0221 a0002c0003t0008g0224 a0002c0008t0005g0025 a0003c0007t0007g0048	9	372	0.0242	-3	c.-28 others(20): Show c.-28+3700_-28+3702delTTT		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46120122	GGCC GGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(155): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0006 others(20): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0013 a0001c0014 a0001c0019 a0001c0021 a0001c0022 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0002c0003 a0002c0034 a0003c0004 a0003c0007 a0005c0015 a0007c0042 a0008c0036	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(32): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0006t0005 a0001c0006t0006 a0001c0006t0008 a0001c0009t0001 a0001c0013t0002 a0001c0014t0002 a0001c0019t0002 a0001c0021t0001 a0001c0022t0006 a0001c0025t0002 a0001c0026t0006 a0001c0027t0003 a0001c0028t0006 a0001c0029t0001 a0001c0030t0001 a0001c0031t0002 a0002c0003t0003 a0002c0003t0008 a0002c0034t0008 a0003c0004t0002 a0003c0004t0003 a0003c0004t0011 a0003c0007t0002 a0003c0007t0003 a0003c0007t0007 a0005c0015t0001 a0007c0042t0002 a0008c0036t0008	a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0105 others(137): Show a0001c0001t0001g0011 a0001c0001t0001g0041 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0337 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0293 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0306 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0311 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0322 a0001c0002t0002g0324 a0001c0002t0002g0326 a0001c0002t0002g0327 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0005g0292 a0001c0002t0009g0020 a0001c0002t0009g0256 a0001c0002t0009g0262 a0001c0002t0009g0265 a0001c0002t0009g0334 a0001c0002t0009g0338 a0001c0002t0010g0123 a0001c0002t0010g0294 a0001c0002t0010g0295 a0001c0002t0010g0325 a0001c0002t0012g0288 a0001c0002t0013g0291 a0001c0006t0005g0057 a0001c0006t0005g0058 a0001c0006t0005g0059 a0001c0006t0005g0064 a0001c0006t0005g0236 a0001c0006t0005g0237 a0001c0006t0005g0238 a0001c0006t0006g0239 a0001c0006t0006g0248 a0001c0006t0006g0249 a0001c0006t0006g0250 a0001c0006t0006g0266 a0001c0006t0006g0267 a0001c0006t0006g0268 a0001c0006t0008g0303 a0001c0009t0001g0106 a0001c0009t0001g0111 a0001c0009t0001g0115 a0001c0009t0001g0120 a0001c0009t0001g0121 a0001c0009t0001g0148 a0001c0013t0002g0001 a0001c0013t0002g0275 a0001c0014t0002g0321 a0001c0014t0002g0323 a0001c0019t0002g0017 a0001c0021t0001g0180 a0001c0022t0006g0050 a0001c0025t0002g0282 a0001c0026t0006g0049 a0001c0027t0003g0252 a0001c0028t0006g0247 a0001c0029t0001g0143 a0001c0030t0001g0160 a0001c0031t0002g0299 a0002c0003t0003g0073 a0002c0003t0003g0074 a0002c0003t0008g0221 a0002c0003t0008g0222 a0002c0003t0008g0223 a0002c0003t0008g0224 a0002c0003t0008g0226 a0002c0003t0008g0227 a0002c0034t0008g0046 a0003c0004t0002g0044 a0003c0004t0003g0194 a0003c0004t0011g0193 a0003c0004t0011g0200 a0003c0007t0002g0022 a0003c0007t0003g0235 a0003c0007t0007g0042 a0003c0007t0007g0048 a0003c0007t0007g0195 a0003c0007t0007g0197 a0003c0007t0007g0205 a0003c0007t0007g0206 a0005c0015t0001g0082 a0007c0042t0002g0287 a0008c0036t0008g0225	158	372	0.4247	-3	c.133 others(20): Show c.1332+273_1332+275delGCC		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	15/27						chr21	TogoVar
COL6A2_chr21_46093112_46134801	46123887	GTCA GTCA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01099.hp1 HG01261.hp2 others(38): Show HG00609.hp1 HG01099.hp1 HG01261.hp2 HG01346.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02080.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02698.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03453.hp1 HG03579.hp1 HG03710.hp1 HG03834.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18945.hp1 NA18948.hp2 NA18954.hp2 NA18964.hp1 NA18972.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA19009.hp1 NA19089.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0005 a0001c0006 others(7): Show a0001c0001 a0001c0005 a0001c0006 a0001c0011 a0001c0028 a0001c0030 a0002c0034 a0005c0015 a0006c0037 a0006c0038	a0001c0001t0001 a0001c0005t0001 a0001c0006t0005 others(8): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0005 a0001c0006t0006 a0001c0011t0001 a0001c0028t0006 a0001c0030t0001 a0002c0034t0008 a0005c0015t0001 a0006c0037t0001 a0006c0038t0001	a0001c0001t0001g0037 a0001c0001t0001g0109 a0001c0001t0001g0134 others(38): Show a0001c0001t0001g0037 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0005t0001g0263 a0001c0005t0001g0329 a0001c0005t0001g0330 a0001c0006t0005g0057 a0001c0006t0005g0058 a0001c0006t0005g0059 a0001c0006t0005g0064 a0001c0006t0005g0236 a0001c0006t0005g0237 a0001c0006t0005g0238 a0001c0006t0006g0239 a0001c0006t0006g0248 a0001c0006t0006g0249 a0001c0006t0006g0250 a0001c0006t0006g0266 a0001c0006t0006g0267 a0001c0006t0006g0268 a0001c0011t0001g0336 a0001c0028t0006g0247 a0001c0030t0001g0160 a0002c0034t0008g0046 a0005c0015t0001g0082 a0006c0037t0001g0088 a0006c0038t0001g0089	41	372	0.1102	-3	c.167 others(20): Show c.1672-763_1672-761delTCA		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	21/27						chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134603	GTCA GTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA19060.hp1 NA19070.hp2 others(1): Show NA18951.hp2 NA19060.hp1 NA19070.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0116 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0116 a0001c0001t0001g0153	4	372	0.0108	-3	c.51 others(14): Show c.5113_*5115delTCA		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding					4803		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46099889	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00738.hp1 others(9): Show HG00140.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01346.hp1 HG02080.hp1 NA18988.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0019	a0001c0001t0011 a0001c0002t0002 a0001c0009t0001 others(1): Show a0001c0001t0011 a0001c0002t0002 a0001c0009t0001 a0001c0019t0001	a0001c0001t0011g0334 a0001c0002t0002g0267 a0001c0002t0002g0268 others(8): Show a0001c0001t0011g0334 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0262 a0001c0019t0001g0332 a0001c0019t0001g0333	12	364	0.0330	-3	c.-28 others(20): Show c.-28+1737_-28+1739delTTT		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46101847	ATTT ATTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01433.hp1 HG02145.hp1 others(6): Show HG00099.hp2 HG01433.hp1 HG02145.hp1 HG02559.hp1 HG02615.hp2 HG02970.hp1 HG04204.hp1 NA18906.hp2 NA18949.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0002c0003 a0002c0012 others(3): Show a0001c0007 a0002c0003 a0002c0012 a0002c0013 a0002c0031 a0003c0008	a0001c0007t0005 a0002c0003t0001 a0002c0012t0001 others(3): Show a0001c0007t0005 a0002c0003t0001 a0002c0012t0001 a0002c0013t0001 a0002c0031t0001 a0003c0008t0003	a0001c0007t0005g0059 a0001c0007t0005g0060 a0001c0007t0005g0061 others(6): Show a0001c0007t0005g0059 a0001c0007t0005g0060 a0001c0007t0005g0061 a0002c0003t0001g0072 a0002c0003t0001g0224 a0002c0012t0001g0026 a0002c0013t0001g0217 a0002c0031t0001g0220 a0003c0008t0003g0050	9	364	0.0247	-3	c.-28 others(20): Show c.-28+3700_-28+3702delTTT		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46120122	GGCC GGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(153): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp2 HG02165.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0010 a0011 a0013	a0001c0001 a0001c0002 a0001c0006 others(29): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0021 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0033 a0001c0035 a0001c0042 a0001c0043 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0002c0003 a0002c0013 a0002c0031 a0002c0055 a0003c0008 a0003c0010 a0003c0016 a0003c0063 a0010c0066 a0011c0053 a0013c0057	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(40): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0006t0001 a0001c0007t0001 a0001c0007t0003 a0001c0007t0005 a0001c0009t0001 a0001c0011t0001 a0001c0021t0006 a0001c0023t0001 a0001c0024t0002 a0001c0025t0001 a0001c0026t0005 a0001c0033t0002 a0001c0035t0001 a0001c0042t0002 a0001c0043t0002 a0001c0045t0001 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0002 a0002c0003t0001 a0002c0013t0001 a0002c0031t0001 a0002c0055t0001 a0003c0008t0003 a0003c0010t0001 a0003c0016t0001 a0003c0016t0002 a0003c0063t0001 a0010c0066t0002 a0011c0053t0001 a0013c0057t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0043 others(137): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0006g0132 a0001c0001t0006g0171 a0001c0001t0011g0334 a0001c0002t0001g0322 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0123 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0313 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0329 a0001c0002t0008g0017 a0001c0002t0009g0330 a0001c0002t0012g0018 a0001c0002t0013g0314 a0001c0002t0014g0328 a0001c0006t0001g0165 a0001c0007t0001g0302 a0001c0007t0003g0246 a0001c0007t0003g0247 a0001c0007t0003g0263 a0001c0007t0003g0264 a0001c0007t0003g0265 a0001c0007t0005g0059 a0001c0007t0005g0060 a0001c0007t0005g0061 a0001c0007t0005g0066 a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0259 a0001c0009t0001g0262 a0001c0009t0001g0331 a0001c0009t0001g0335 a0001c0011t0001g0106 a0001c0011t0001g0111 a0001c0011t0001g0115 a0001c0011t0001g0120 a0001c0011t0001g0121 a0001c0011t0001g0177 a0001c0021t0006g0145 a0001c0021t0006g0176 a0001c0023t0001g0250 a0001c0023t0001g0251 a0001c0024t0002g0318 a0001c0024t0002g0320 a0001c0025t0001g0232 a0001c0025t0001g0235 a0001c0026t0005g0233 a0001c0026t0005g0234 a0001c0033t0002g0018 a0001c0035t0001g0052 a0001c0042t0002g0295 a0001c0043t0002g0285 a0001c0045t0001g0051 a0001c0046t0001g0249 a0001c0047t0001g0245 a0001c0048t0001g0144 a0001c0049t0001g0158 a0001c0050t0002g0298 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0013t0001g0217 a0002c0013t0001g0219 a0002c0031t0001g0218 a0002c0031t0001g0220 a0002c0055t0001g0048 a0003c0008t0003g0044 a0003c0008t0003g0050 a0003c0008t0003g0191 a0003c0008t0003g0193 a0003c0008t0003g0201 a0003c0008t0003g0202 a0003c0010t0001g0189 a0003c0010t0001g0190 a0003c0010t0001g0196 a0003c0016t0001g0231 a0003c0016t0002g0023 a0003c0063t0001g0046 a0010c0066t0002g0283 a0011c0053t0001g0084 a0013c0057t0001g0221	156	364	0.4286	-3	c.133 others(20): Show c.1332+273_1332+275delGCC		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	15/27						chr21	TogoVar
COL6A2_chr21_46093112_46137848	46123887	GTCA GTCA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show HG00609.hp1 HG01099.hp1 HG01261.hp2 HG01346.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02080.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02698.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03453.hp1 HG03579.hp1 HG03710.hp1 HG03834.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18945.hp1 NA18948.hp2 NA18954.hp2 NA18964.hp1 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA19009.hp1 NA19089.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0011	a0001c0001 a0001c0006 a0001c0007 others(11): Show a0001c0001 a0001c0006 a0001c0007 a0001c0015 a0001c0019 a0001c0025 a0001c0026 a0001c0039 a0001c0047 a0001c0049 a0002c0055 a0009c0058 a0009c0059 a0011c0053	a0001c0001t0001 a0001c0006t0001 a0001c0007t0003 others(12): Show a0001c0001t0001 a0001c0006t0001 a0001c0007t0003 a0001c0007t0005 a0001c0015t0002 a0001c0019t0001 a0001c0025t0001 a0001c0026t0005 a0001c0039t0001 a0001c0047t0001 a0001c0049t0001 a0002c0055t0001 a0009c0058t0001 a0009c0059t0001 a0011c0053t0001	a0001c0001t0001g0038 a0001c0001t0001g0109 a0001c0001t0001g0135 others(36): Show a0001c0001t0001g0038 a0001c0001t0001g0109 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0149 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0006t0001g0165 a0001c0006t0001g0166 a0001c0006t0001g0188 a0001c0006t0001g0303 a0001c0006t0001g0304 a0001c0006t0001g0306 a0001c0007t0003g0246 a0001c0007t0003g0247 a0001c0007t0003g0263 a0001c0007t0003g0264 a0001c0007t0003g0265 a0001c0007t0005g0059 a0001c0007t0005g0060 a0001c0007t0005g0061 a0001c0007t0005g0066 a0001c0015t0002g0260 a0001c0015t0002g0326 a0001c0015t0002g0327 a0001c0019t0001g0333 a0001c0025t0001g0232 a0001c0025t0001g0235 a0001c0026t0005g0233 a0001c0026t0005g0234 a0001c0039t0001g0281 a0001c0047t0001g0245 a0001c0049t0001g0158 a0002c0055t0001g0048 a0009c0058t0001g0090 a0009c0059t0001g0091 a0011c0053t0001g0084	39	364	0.1071	-3	c.167 others(20): Show c.1672-763_1672-761delTCA		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	21/27						chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134603	GTCA GTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18969.hp1 NA19060.hp1 others(2): Show NA18951.hp2 NA18969.hp1 NA19060.hp1 NA19070.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0116 a0001c0001t0001g0153	5	364	0.0137	-3	c.20 others(14): Show c.2052_*2054delTCA		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding					1756		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46136165	ATCT ATCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00738.hp1 others(4): Show HG00140.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01106.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0259 others(3): Show a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0259 a0001c0009t0001g0262 a0001c0009t0001g0331 a0001c0009t0001g0335	7	364	0.0192	-3	c.36 others(14): Show c.3614_*3616delTCT		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding					3318		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237336220	TGCA TGCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00438.hp2 HG01243.hp2 others(6): Show HG00140.hp2 HG00438.hp2 HG01243.hp2 HG01433.hp1 HG02451.hp2 NA18942.hp2 NA18983.hp2 NA19063.hp2 homoSapiens_chm13v2.hp1	a0007 a0063 a0068 a0007 a0063 a0068	a0007c0011 a0007c0030 a0063c0057 others(1): Show a0007c0011 a0007c0030 a0063c0057 a0068c0049	a0007c0011t0001 a0007c0030t0001 a0063c0057t0002 others(1): Show a0007c0011t0001 a0007c0030t0001 a0063c0057t0002 a0068c0049t0002	a0007c0011t0001g0003 a0007c0011t0001g0291 a0007c0011t0001g0292 others(5): Show a0007c0011t0001g0003 a0007c0011t0001g0291 a0007c0011t0001g0292 a0007c0011t0001g0309 a0007c0030t0001g0048 a0007c0030t0001g0245 a0063c0057t0002g0056 a0068c0049t0002g0279	9	322	0.0280	-3	c.887 others(12): Show c.8877_8879delTGC	p.Ala others(7): Show p.Ala2960del	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	40/44	9121/10532	8877/9534	2959/3177			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237415344	AGAG AGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(107): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18954.hp1 NA18960.hp2 NA18964.hp1 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19083.hp2 NA19088.hp2 NA19240.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0015 a0016 a0019 a0020 a0022 a0028 a0030 a0032 a0034 a0041 a0043 a0045 a0046 a0047 a0053 a0067 a0068 a0070	a0001c0002 a0001c0004 a0001c0014 others(52): Show a0001c0002 a0001c0004 a0001c0014 a0001c0040 a0001c0074 a0001c0076 a0001c0084 a0001c0130 a0002c0001 a0002c0009 a0002c0092 a0002c0106 a0003c0005 a0003c0015 a0003c0026 a0003c0031 a0003c0082 a0003c0089 a0003c0093 a0004c0003 a0004c0006 a0004c0016 a0004c0113 a0005c0012 a0005c0101 a0006c0007 a0006c0096 a0007c0011 a0007c0030 a0008c0010 a0008c0094 a0009c0124 a0010c0018 a0011c0091 a0014c0021 a0015c0036 a0016c0019 a0019c0044 a0020c0127 a0022c0078 a0022c0103 a0028c0025 a0030c0131 a0030c0132 a0032c0142 a0034c0046 a0041c0136 a0043c0061 a0045c0067 a0046c0065 a0047c0066 a0053c0073 a0067c0050 a0068c0049 a0070c0139	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(64): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0004t0001 a0001c0004t0002 a0001c0014t0002 a0001c0040t0001 a0001c0074t0001 a0001c0076t0003 a0001c0084t0001 a0001c0130t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0009 a0002c0009t0001 a0002c0009t0002 a0002c0092t0002 a0002c0106t0002 a0003c0005t0003 a0003c0015t0001 a0003c0015t0003 a0003c0026t0001 a0003c0031t0004 a0003c0082t0002 a0003c0089t0001 a0003c0093t0001 a0004c0003t0002 a0004c0003t0003 a0004c0006t0002 a0004c0006t0003 a0004c0016t0001 a0004c0113t0002 a0005c0012t0002 a0005c0101t0003 a0006c0007t0001 a0006c0007t0002 a0006c0096t0002 a0007c0011t0001 a0007c0030t0001 a0008c0010t0001 a0008c0094t0001 a0009c0124t0003 a0010c0018t0004 a0011c0091t0003 a0014c0021t0002 a0014c0021t0003 a0015c0036t0001 a0016c0019t0002 a0019c0044t0004 a0020c0127t0004 a0022c0078t0001 a0022c0103t0001 a0028c0025t0002 a0030c0131t0001 a0030c0132t0002 a0032c0142t0002 a0034c0046t0002 a0041c0136t0001 a0043c0061t0001 a0045c0067t0002 a0046c0065t0002 a0047c0066t0002 a0053c0073t0008 a0067c0050t0001 a0068c0049t0002 a0070c0139t0005	a0001c0002t0001g0115 a0001c0002t0001g0287 a0001c0002t0002g0203 others(105): Show a0001c0002t0001g0115 a0001c0002t0001g0287 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0261 a0001c0002t0002g0267 a0001c0002t0002g0281 a0001c0002t0002g0286 a0001c0002t0002g0297 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0006g0005 a0001c0004t0001g0228 a0001c0004t0002g0220 a0001c0004t0002g0227 a0001c0004t0002g0229 a0001c0004t0002g0230 a0001c0004t0002g0296 a0001c0014t0002g0114 a0001c0014t0002g0200 a0001c0040t0001g0239 a0001c0074t0001g0169 a0001c0076t0003g0219 a0001c0084t0001g0195 a0001c0130t0002g0237 a0002c0001t0001g0198 a0002c0001t0001g0240 a0002c0001t0001g0243 a0002c0001t0001g0249 a0002c0001t0001g0251 a0002c0001t0001g0254 a0002c0001t0001g0259 a0002c0001t0001g0262 a0002c0001t0001g0276 a0002c0001t0001g0290 a0002c0001t0001g0298 a0002c0001t0001g0301 a0002c0001t0002g0241 a0002c0001t0002g0289 a0002c0001t0009g0004 a0002c0009t0001g0224 a0002c0009t0002g0223 a0002c0092t0002g0257 a0002c0106t0002g0231 a0003c0005t0003g0156 a0003c0015t0001g0272 a0003c0015t0003g0209 a0003c0026t0001g0186 a0003c0031t0004g0194 a0003c0031t0004g0196 a0003c0082t0002g0197 a0003c0089t0001g0116 a0003c0093t0001g0250 a0004c0003t0002g0002 a0004c0003t0002g0208 a0004c0003t0002g0234 a0004c0003t0002g0256 a0004c0003t0003g0207 a0004c0006t0002g0299 a0004c0006t0002g0305 a0004c0006t0003g0278 a0004c0016t0001g0242 a0004c0113t0002g0226 a0005c0012t0002g0300 a0005c0101t0003g0238 a0006c0007t0001g0210 a0006c0007t0001g0273 a0006c0007t0002g0214 a0006c0007t0002g0215 a0006c0007t0002g0263 a0006c0007t0002g0285 a0006c0096t0002g0155 a0007c0011t0001g0003 a0007c0011t0001g0291 a0007c0011t0001g0292 a0007c0030t0001g0245 a0008c0010t0001g0217 a0008c0010t0001g0218 a0008c0010t0001g0293 a0008c0094t0001g0271 a0009c0124t0003g0113 a0010c0018t0004g0112 a0011c0091t0003g0064 a0014c0021t0002g0266 a0014c0021t0002g0282 a0014c0021t0003g0264 a0015c0036t0001g0154 a0016c0019t0002g0212 a0019c0044t0004g0221 a0020c0127t0004g0211 a0022c0078t0001g0247 a0022c0103t0001g0233 a0028c0025t0002g0213 a0030c0131t0001g0284 a0030c0132t0002g0283 a0032c0142t0002g0232 a0034c0046t0002g0253 a0041c0136t0001g0165 a0043c0061t0001g0260 a0045c0067t0002g0288 a0046c0065t0002g0275 a0047c0066t0002g0270 a0053c0073t0008g0304 a0067c0050t0001g0277 a0068c0049t0002g0279 a0070c0139t0005g0202	110	322	0.3416	-3	c.-14 others(14): Show c.-1425_-1423delCTC		COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding					1181		chr2	TogoVar
COL6A5_chr3_130340672_130489846	130354961	CATT CATT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show HG00140.hp2 HG01361.hp2 HG02738.hp1 HG03831.hp2 HG03834.hp2	a0013 a0013	a0013c0016 a0013c0075 a0013c0016 a0013c0075	a0013c0016t0010 a0013c0075t0016 a0013c0016t0010 a0013c0075t0016	a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 others(2): Show a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 a0013c0016t0010g0016 a0013c0075t0016g0012	5	292	0.0171	-3	c.-29 others(20): Show c.-29+8982_-29+8984delTTA		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362326	ATTT ATTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03688.hp1 NA18947.hp1 others(4): Show HG00438.hp2 HG03688.hp1 NA18947.hp1 NA18950.hp1 NA18984.hp2 NA18992.hp1 NA19091.hp1	a0002 a0004 a0021 others(3): Show a0002 a0004 a0021 a0046 a0055 a0069	a0002c0002 a0002c0047 a0004c0003 others(4): Show a0002c0002 a0002c0047 a0004c0003 a0021c0096 a0046c0083 a0055c0094 a0069c0056	a0002c0002t0001 a0002c0047t0001 a0004c0003t0001 others(4): Show a0002c0002t0001 a0002c0047t0001 a0004c0003t0001 a0021c0096t0001 a0046c0083t0001 a0055c0094t0008 a0069c0056t0001	a0002c0002t0001g0110 a0002c0047t0001g0111 a0004c0003t0001g0022 others(4): Show a0002c0002t0001g0110 a0002c0047t0001g0111 a0004c0003t0001g0022 a0021c0096t0001g0109 a0046c0083t0001g0113 a0055c0094t0008g0112 a0069c0056t0001g0114	7	292	0.0240	-3	c.-28 others(22): Show c.-28-11266_-28-11264delTTT		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130379070	CGAT CGAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00544.hp1 others(125): Show HG00140.hp2 HG00408.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18972.hp1 NA18975.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0007 others(44): Show a0002 a0003 a0007 a0008 a0010 a0013 a0014 a0015 a0016 a0018 a0024 a0025 a0033 a0034 a0035 a0036 a0039 a0041 a0042 a0043 a0059 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0073 a0075 a0076 a0077 a0078 a0079 a0080 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090	a0002c0002 a0002c0047 a0003c0004 others(50): Show a0002c0002 a0002c0047 a0003c0004 a0003c0025 a0003c0079 a0007c0008 a0007c0064 a0008c0010 a0008c0026 a0010c0007 a0013c0016 a0013c0075 a0014c0013 a0015c0015 a0016c0020 a0018c0018 a0024c0022 a0025c0041 a0033c0029 a0034c0027 a0035c0028 a0036c0030 a0039c0031 a0041c0033 a0042c0103 a0043c0104 a0059c0073 a0061c0053 a0062c0054 a0063c0055 a0064c0061 a0065c0060 a0066c0057 a0067c0058 a0068c0059 a0069c0056 a0070c0070 a0073c0066 a0075c0067 a0076c0068 a0077c0065 a0078c0062 a0079c0063 a0080c0069 a0082c0045 a0083c0046 a0084c0049 a0085c0048 a0086c0050 a0087c0076 a0088c0051 a0089c0102 a0090c0052	a0002c0002t0001 a0002c0002t0002 a0002c0047t0001 others(60): Show a0002c0002t0001 a0002c0002t0002 a0002c0047t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0011 a0003c0025t0001 a0003c0025t0002 a0003c0079t0001 a0007c0008t0003 a0007c0064t0006 a0008c0010t0001 a0008c0010t0005 a0008c0026t0009 a0010c0007t0001 a0010c0007t0009 a0013c0016t0001 a0013c0016t0010 a0013c0075t0016 a0014c0013t0001 a0015c0015t0001 a0015c0015t0002 a0015c0015t0009 a0016c0020t0001 a0018c0018t0001 a0018c0018t0005 a0024c0022t0001 a0025c0041t0001 a0033c0029t0001 a0034c0027t0001 a0035c0028t0001 a0036c0030t0002 a0039c0031t0006 a0041c0033t0008 a0042c0103t0002 a0043c0104t0002 a0059c0073t0003 a0061c0053t0001 a0062c0054t0001 a0063c0055t0001 a0064c0061t0002 a0065c0060t0005 a0066c0057t0008 a0067c0058t0001 a0068c0059t0001 a0069c0056t0001 a0070c0070t0003 a0073c0066t0006 a0075c0067t0001 a0076c0068t0003 a0077c0065t0001 a0078c0062t0003 a0079c0063t0003 a0080c0069t0001 a0082c0045t0001 a0083c0046t0007 a0084c0049t0001 a0085c0048t0001 a0086c0050t0001 a0087c0076t0001 a0088c0051t0001 a0089c0102t0005 a0090c0052t0003	a0002c0002t0001g0004 a0002c0002t0001g0103 a0002c0002t0001g0110 others(121): Show a0002c0002t0001g0004 a0002c0002t0001g0103 a0002c0002t0001g0110 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0150 a0002c0002t0001g0172 a0002c0002t0001g0211 a0002c0002t0002g0032 a0002c0002t0002g0227 a0002c0047t0001g0111 a0003c0004t0001g0018 a0003c0004t0001g0019 a0003c0004t0001g0020 a0003c0004t0001g0093 a0003c0004t0001g0147 a0003c0004t0001g0151 a0003c0004t0001g0155 a0003c0004t0001g0179 a0003c0004t0002g0221 a0003c0004t0011g0073 a0003c0025t0001g0124 a0003c0025t0002g0257 a0003c0079t0001g0107 a0007c0008t0003g0001 a0007c0008t0003g0062 a0007c0008t0003g0063 a0007c0008t0003g0065 a0007c0008t0003g0066 a0007c0008t0003g0069 a0007c0008t0003g0070 a0007c0064t0006g0038 a0008c0010t0001g0108 a0008c0010t0001g0119 a0008c0010t0001g0141 a0008c0010t0001g0142 a0008c0010t0001g0149 a0008c0010t0001g0169 a0008c0010t0005g0045 a0008c0026t0009g0164 a0008c0026t0009g0165 a0010c0007t0001g0105 a0010c0007t0001g0136 a0010c0007t0001g0140 a0010c0007t0001g0163 a0010c0007t0001g0167 a0010c0007t0001g0170 a0010c0007t0009g0162 a0010c0007t0009g0166 a0013c0016t0001g0144 a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 a0013c0016t0010g0016 a0013c0075t0016g0012 a0014c0013t0001g0098 a0014c0013t0001g0115 a0014c0013t0001g0143 a0014c0013t0001g0145 a0014c0013t0001g0146 a0014c0013t0001g0148 a0015c0015t0001g0005 a0015c0015t0001g0125 a0015c0015t0002g0226 a0015c0015t0009g0168 a0016c0020t0001g0171 a0016c0020t0001g0272 a0016c0020t0001g0273 a0016c0020t0001g0275 a0018c0018t0001g0158 a0018c0018t0005g0053 a0018c0018t0005g0054 a0018c0018t0005g0055 a0024c0022t0001g0152 a0024c0022t0001g0156 a0024c0022t0001g0157 a0025c0041t0001g0177 a0025c0041t0001g0178 a0033c0029t0001g0117 a0033c0029t0001g0120 a0034c0027t0001g0006 a0035c0028t0001g0099 a0035c0028t0001g0104 a0036c0030t0002g0212 a0036c0030t0002g0213 a0039c0031t0006g0067 a0039c0031t0006g0068 a0041c0033t0008g0173 a0041c0033t0008g0174 a0042c0103t0002g0091 a0043c0104t0002g0092 a0059c0073t0003g0040 a0061c0053t0001g0175 a0062c0054t0001g0160 a0063c0055t0001g0116 a0064c0061t0002g0267 a0065c0060t0005g0042 a0066c0057t0008g0187 a0067c0058t0001g0024 a0068c0059t0001g0210 a0069c0056t0001g0114 a0070c0070t0003g0064 a0073c0066t0006g0060 a0075c0067t0001g0159 a0076c0068t0003g0052 a0077c0065t0001g0161 a0078c0062t0003g0216 a0079c0063t0003g0215 a0080c0069t0001g0134 a0082c0045t0001g0118 a0083c0046t0007g0033 a0084c0049t0001g0126 a0085c0048t0001g0025 a0086c0050t0001g0132 a0087c0076t0001g0274 a0088c0051t0001g0137 a0089c0102t0005g0056 a0090c0052t0003g0011	128	292	0.4384	-3	c.668 others(18): Show c.668-346_668-344delATG		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	3/40					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130379072	ATGG ATGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG02647.hp1 others(1): Show HG02280.hp2 HG02622.hp1 HG02647.hp1 HG02922.hp2	a0037 a0071 a0072 a0037 a0071 a0072	a0037c0032 a0071c0071 a0072c0072 a0037c0032 a0071c0071 a0072c0072	a0037c0032t0001 a0037c0032t0005 a0071c0071t0001 others(1): Show a0037c0032t0001 a0037c0032t0005 a0071c0071t0001 a0072c0072t0001	a0037c0032t0001g0181 a0037c0032t0005g0057 a0071c0071t0001g0180 others(1): Show a0037c0032t0001g0181 a0037c0032t0005g0057 a0071c0071t0001g0180 a0072c0072t0001g0182	4	292	0.0137	-3	c.668 others(18): Show c.668-338_668-336delGGT		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	3/40					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130450069	CAGA CAGA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp2 NA19240.hp1 HG03041.hp1 HG03453.hp2 NA19240.hp1	a0030 a0077 a0030 a0077	a0030c0035 a0077c0065 a0030c0035 a0077c0065	a0030c0035t0001 a0077c0065t0001 a0030c0035t0001 a0077c0065t0001	a0030c0035t0001g0217 a0030c0035t0001g0218 a0077c0065t0001g0161 a0030c0035t0001g0217 a0030c0035t0001g0218 a0077c0065t0001g0161	3	292	0.0103	-3	c.657 others(22): Show c.6579-5383_6579-5381delAAG		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	36/40					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130527890	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02074.hp1 others(26): Show HG01884.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02257.hp2 HG02486.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA18948.hp2 NA18979.hp1 NA18983.hp2 NA19002.hp2 NA19007.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19086.hp1	a0003 a0007 a0010 others(7): Show a0003 a0007 a0010 a0012 a0015 a0023 a0025 a0036 a0041 a0047	a0003c0027 a0007c0017 a0007c0032 others(16): Show a0003c0027 a0007c0017 a0007c0032 a0007c0040 a0007c0072 a0007c0081 a0007c0084 a0010c0014 a0010c0038 a0010c0086 a0012c0009 a0015c0036 a0015c0037 a0023c0039 a0025c0073 a0025c0074 a0036c0068 a0041c0082 a0047c0048	a0003c0027t0004 a0007c0017t0006 a0007c0032t0003 others(19): Show a0003c0027t0004 a0007c0017t0006 a0007c0032t0003 a0007c0040t0004 a0007c0072t0020 a0007c0081t0013 a0007c0084t0002 a0010c0014t0001 a0010c0014t0002 a0010c0038t0002 a0010c0086t0001 a0012c0009t0005 a0015c0036t0008 a0015c0037t0006 a0015c0037t0008 a0023c0039t0017 a0023c0039t0026 a0025c0073t0028 a0025c0074t0004 a0036c0068t0002 a0041c0082t0006 a0047c0048t0003	a0003c0027t0004g0213 a0003c0027t0004g0214 a0007c0017t0006g0078 others(25): Show a0003c0027t0004g0213 a0003c0027t0004g0214 a0007c0017t0006g0078 a0007c0032t0003g0128 a0007c0032t0003g0129 a0007c0040t0004g0234 a0007c0040t0004g0235 a0007c0072t0020g0190 a0007c0081t0013g0080 a0007c0084t0002g0083 a0010c0014t0001g0017 a0010c0014t0001g0018 a0010c0014t0001g0132 a0010c0014t0002g0197 a0010c0038t0002g0077 a0010c0038t0002g0082 a0010c0086t0001g0155 a0012c0009t0005g0106 a0015c0036t0008g0001 a0015c0037t0006g0081 a0015c0037t0008g0169 a0023c0039t0017g0101 a0023c0039t0026g0112 a0025c0073t0028g0218 a0025c0074t0004g0215 a0036c0068t0002g0079 a0041c0082t0006g0089 a0047c0048t0003g0120	29	264	0.1099	-3	c.-32 others(22): Show c.-32+10516_-32+10518delTTT		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130552822	CCGT CCGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00597.hp1 others(175): Show HG00280.hp2 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18995.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19086.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(38): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0032 a0033 a0034 a0035 a0036 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050	a0001c0001 a0001c0056 a0002c0002 others(66): Show a0001c0001 a0001c0056 a0002c0002 a0002c0051 a0003c0010 a0003c0023 a0003c0027 a0003c0060 a0003c0061 a0003c0062 a0003c0070 a0003c0071 a0004c0004 a0004c0026 a0004c0029 a0004c0076 a0006c0063 a0007c0017 a0007c0018 a0007c0032 a0007c0040 a0007c0072 a0007c0081 a0007c0083 a0007c0084 a0008c0006 a0008c0034 a0009c0005 a0009c0055 a0010c0014 a0010c0016 a0010c0038 a0010c0086 a0012c0009 a0013c0028 a0013c0075 a0014c0011 a0015c0036 a0015c0037 a0016c0020 a0016c0053 a0018c0033 a0019c0021 a0020c0025 a0021c0030 a0023c0039 a0024c0031 a0025c0073 a0025c0074 a0026c0035 a0027c0041 a0028c0042 a0029c0085 a0030c0043 a0032c0079 a0033c0077 a0034c0078 a0035c0058 a0036c0068 a0041c0082 a0042c0080 a0043c0046 a0044c0052 a0045c0050 a0046c0054 a0047c0048 a0048c0047 a0049c0057 a0050c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(109): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0021 a0001c0001t0024 a0001c0056t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0022 a0002c0051t0007 a0003c0010t0001 a0003c0023t0003 a0003c0023t0007 a0003c0027t0004 a0003c0060t0001 a0003c0061t0015 a0003c0062t0004 a0003c0070t0002 a0003c0071t0004 a0004c0004t0002 a0004c0026t0001 a0004c0026t0004 a0004c0029t0002 a0004c0029t0004 a0004c0076t0002 a0006c0063t0023 a0007c0017t0001 a0007c0017t0004 a0007c0017t0006 a0007c0018t0003 a0007c0018t0007 a0007c0018t0009 a0007c0032t0003 a0007c0040t0004 a0007c0072t0020 a0007c0081t0013 a0007c0083t0005 a0007c0084t0002 a0008c0006t0001 a0008c0006t0003 a0008c0006t0004 a0008c0006t0007 a0008c0006t0027 a0008c0034t0001 a0008c0034t0004 a0009c0005t0001 a0009c0005t0002 a0009c0005t0004 a0009c0005t0006 a0009c0005t0008 a0009c0005t0011 a0009c0055t0001 a0010c0014t0001 a0010c0014t0002 a0010c0016t0001 a0010c0016t0004 a0010c0038t0002 a0010c0086t0001 a0012c0009t0003 a0012c0009t0005 a0013c0028t0004 a0013c0028t0011 a0013c0075t0001 a0014c0011t0001 a0014c0011t0003 a0014c0011t0004 a0015c0036t0008 a0015c0037t0006 a0015c0037t0008 a0016c0020t0001 a0016c0020t0008 a0016c0053t0008 a0018c0033t0001 a0018c0033t0025 a0019c0021t0003 a0019c0021t0005 a0020c0025t0002 a0021c0030t0001 a0021c0030t0004 a0023c0039t0017 a0023c0039t0026 a0024c0031t0003 a0024c0031t0012 a0025c0073t0028 a0025c0074t0004 a0026c0035t0001 a0027c0041t0001 a0028c0042t0003 a0029c0085t0007 a0030c0043t0003 a0032c0079t0003 a0033c0077t0001 a0034c0078t0004 a0035c0058t0004 a0036c0068t0002 a0041c0082t0006 a0042c0080t0001 a0043c0046t0003 a0044c0052t0005 a0045c0050t0005 a0046c0054t0002 a0047c0048t0003 a0048c0047t0019 a0049c0057t0004 a0050c0045t0002	a0001c0001t0001g0011 a0001c0001t0001g0114 a0001c0001t0001g0121 others(173): Show a0001c0001t0001g0011 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0002g0056 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0087 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0163 a0001c0001t0004g0003 a0001c0001t0004g0207 a0001c0001t0005g0061 a0001c0001t0007g0090 a0001c0001t0010g0255 a0001c0001t0021g0019 a0001c0001t0024g0140 a0001c0056t0002g0059 a0002c0002t0001g0095 a0002c0002t0001g0166 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0003g0004 a0002c0002t0003g0108 a0002c0002t0003g0116 a0002c0002t0003g0134 a0002c0002t0003g0149 a0002c0002t0003g0158 a0002c0002t0003g0162 a0002c0002t0003g0171 a0002c0002t0003g0186 a0002c0002t0004g0202 a0002c0002t0004g0219 a0002c0002t0004g0220 a0002c0002t0005g0042 a0002c0002t0005g0070 a0002c0002t0005g0076 a0002c0002t0005g0100 a0002c0002t0007g0201 a0002c0002t0007g0228 a0002c0002t0022g0165 a0002c0051t0007g0238 a0003c0010t0001g0181 a0003c0023t0003g0022 a0003c0023t0007g0211 a0003c0027t0004g0213 a0003c0027t0004g0214 a0003c0060t0001g0150 a0003c0061t0015g0196 a0003c0062t0004g0216 a0003c0070t0002g0035 a0003c0071t0004g0200 a0004c0004t0002g0026 a0004c0026t0001g0023 a0004c0026t0004g0208 a0004c0029t0002g0036 a0004c0029t0004g0236 a0004c0076t0002g0053 a0006c0063t0023g0168 a0007c0017t0001g0009 a0007c0017t0004g0210 a0007c0017t0006g0078 a0007c0018t0003g0015 a0007c0018t0007g0245 a0007c0018t0009g0257 a0007c0032t0003g0128 a0007c0032t0003g0129 a0007c0040t0004g0234 a0007c0040t0004g0235 a0007c0072t0020g0190 a0007c0081t0013g0080 a0007c0083t0005g0048 a0007c0084t0002g0083 a0008c0006t0001g0032 a0008c0006t0003g0122 a0008c0006t0003g0180 a0008c0006t0004g0226 a0008c0006t0004g0230 a0008c0006t0004g0231 a0008c0006t0004g0241 a0008c0006t0004g0242 a0008c0006t0004g0243 a0008c0006t0007g0227 a0008c0006t0027g0232 a0008c0034t0001g0102 a0008c0034t0004g0233 a0009c0005t0001g0141 a0009c0005t0002g0062 a0009c0005t0004g0223 a0009c0005t0006g0057 a0009c0005t0006g0058 a0009c0005t0006g0068 a0009c0005t0006g0072 a0009c0005t0006g0073 a0009c0005t0008g0167 a0009c0005t0008g0204 a0009c0005t0011g0094 a0009c0055t0001g0176 a0010c0014t0001g0017 a0010c0014t0001g0018 a0010c0014t0001g0132 a0010c0014t0002g0197 a0010c0016t0001g0113 a0010c0016t0004g0209 a0010c0038t0002g0077 a0010c0038t0002g0082 a0010c0086t0001g0155 a0012c0009t0003g0136 a0012c0009t0003g0147 a0012c0009t0003g0159 a0012c0009t0003g0170 a0012c0009t0005g0054 a0012c0009t0005g0063 a0012c0009t0005g0104 a0012c0009t0005g0106 a0013c0028t0004g0199 a0013c0028t0011g0244 a0013c0075t0001g0185 a0014c0011t0001g0177 a0014c0011t0003g0178 a0014c0011t0003g0179 a0014c0011t0004g0217 a0015c0036t0008g0001 a0015c0037t0006g0081 a0015c0037t0008g0169 a0016c0020t0001g0144 a0016c0020t0008g0145 a0016c0053t0008g0161 a0018c0033t0001g0193 a0018c0033t0025g0192 a0019c0021t0003g0198 a0019c0021t0005g0030 a0020c0025t0002g0027 a0020c0025t0002g0028 a0021c0030t0001g0156 a0021c0030t0004g0103 a0023c0039t0017g0101 a0023c0039t0026g0112 a0024c0031t0003g0016 a0024c0031t0012g0025 a0025c0073t0028g0218 a0025c0074t0004g0215 a0026c0035t0001g0002 a0027c0041t0001g0021 a0028c0042t0003g0118 a0029c0085t0007g0239 a0030c0043t0003g0143 a0032c0079t0003g0160 a0033c0077t0001g0148 a0034c0078t0004g0212 a0035c0058t0004g0240 a0036c0068t0002g0079 a0041c0082t0006g0089 a0042c0080t0001g0020 a0043c0046t0003g0024 a0044c0052t0005g0060 a0045c0050t0005g0067 a0046c0054t0002g0055 a0047c0048t0003g0120 a0048c0047t0019g0099 a0049c0057t0004g0091 a0050c0045t0002g0069	178	264	0.6742	-3	c.-31 others(20): Show c.-31-7510_-31-7508delGTC		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130561634	CTTT CTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02055.hp2 HG02717.hp1 others(11): Show HG00621.hp2 HG02055.hp2 HG02717.hp1 HG02896.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03834.hp1 NA18906.hp1 NA18966.hp2 NA19030.hp2	a0007 a0010 a0025 a0007 a0010 a0025	a0007c0018 a0007c0032 a0007c0040 others(5): Show a0007c0018 a0007c0032 a0007c0040 a0007c0072 a0010c0014 a0010c0016 a0010c0086 a0025c0073	a0007c0018t0003 a0007c0018t0007 a0007c0032t0003 others(8): Show a0007c0018t0003 a0007c0018t0007 a0007c0032t0003 a0007c0040t0004 a0007c0072t0020 a0010c0014t0001 a0010c0016t0001 a0010c0016t0004 a0010c0016t0010 a0010c0086t0001 a0025c0073t0028	a0007c0018t0003g0015 a0007c0018t0007g0245 a0007c0032t0003g0128 others(11): Show a0007c0018t0003g0015 a0007c0018t0007g0245 a0007c0032t0003g0128 a0007c0032t0003g0129 a0007c0040t0004g0234 a0007c0040t0004g0235 a0007c0072t0020g0190 a0010c0014t0001g0017 a0010c0014t0001g0018 a0010c0016t0001g0113 a0010c0016t0004g0209 a0010c0016t0010g0256 a0010c0086t0001g0155 a0025c0073t0028g0218	14	264	0.0530	-3	c.64+ others(18): Show c.64+1233_64+1235delTTT		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	2/36					INFO_REALIGN_3_PRIME	chr3	TogoVar

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