Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
COIL_chr17_56933199_56966050	56949675	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18951.hp2 NA18972.hp1 NA18978.hp1 others(2): Show NA18951.hp2 NA18972.hp1 NA18978.hp1 NA18982.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0219 a0001c0001t0001g0221 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222	5	418	0.0120	0	c.144 others(6): Show c.1440+6T>C		COIL	ENSG00000121058.5	transcript	ENST00000240316.5	protein_coding	3/6					chr17	TogoVar
COL11A1_chr1_102871473_103113522	102913693	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0013 a0004c0014t0001g0013	1	184	0.0054	0	c.397 others(6): Show c.3979-3T>C		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	52/66					chr1	TogoVar
COL11A1_chr1_102871473_103113522	102979108	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02647.hp2 HG02809.hp2 others(4): Show HG02258.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02976.hp1 HG03195.hp1	a0001 a0004 a0019 a0001 a0004 a0019	a0001c0006 a0004c0014 a0019c0020 a0001c0006 a0004c0014 a0019c0020	a0001c0006t0001 a0001c0006t0003 a0004c0014t0001 others(1): Show a0001c0006t0001 a0001c0006t0003 a0004c0014t0001 a0019c0020t0001	a0001c0006t0001g0034 a0001c0006t0001g0036 a0001c0006t0001g0045 others(4): Show a0001c0006t0001g0034 a0001c0006t0001g0036 a0001c0006t0001g0045 a0001c0006t0001g0046 a0001c0006t0003g0039 a0004c0014t0001g0047 a0019c0020t0001g0178	7	184	0.0380	0	c.261 others(6): Show c.2611-4C>T		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	32/66					chr1	TogoVar
COL11A1_chr1_102871473_103113522	103002739	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01884.hp2 HG02257.hp2 others(15): Show HG01109.hp1 HG01884.hp2 HG02257.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0010	a0001c0008 a0001c0009 a0003c0026 others(3): Show a0001c0008 a0001c0009 a0003c0026 a0004c0012 a0005c0010 a0010c0028	a0001c0008t0006 a0001c0009t0001 a0001c0009t0007 others(4): Show a0001c0008t0006 a0001c0009t0001 a0001c0009t0007 a0003c0026t0002 a0004c0012t0003 a0005c0010t0001 a0010c0028t0006	a0001c0008t0006g0002 a0001c0008t0006g0003 a0001c0008t0006g0004 others(15): Show a0001c0008t0006g0002 a0001c0008t0006g0003 a0001c0008t0006g0004 a0001c0008t0006g0005 a0001c0008t0006g0006 a0001c0009t0001g0008 a0001c0009t0007g0055 a0001c0009t0007g0056 a0001c0009t0007g0057 a0003c0026t0002g0049 a0004c0012t0003g0010 a0004c0012t0003g0011 a0004c0012t0003g0012 a0005c0010t0001g0028 a0005c0010t0001g0029 a0005c0010t0001g0052 a0005c0010t0001g0053 a0010c0028t0006g0001	18	184	0.0978	0	c.204 others(6): Show c.2043+8G>A		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	22/66					chr1	TogoVar
COL11A1_chr1_102871473_103113522	103003211	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01071.hp1 HG01243.hp1 HG01433.hp2 others(10): Show HG01071.hp1 HG01243.hp1 HG01433.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02559.hp2 HG02630.hp2 HG02922.hp1 HG03834.hp1 HG04184.hp1 HG04228.hp2 homoSapiens_chm13v2.hp1	a0002 a0008 a0017 a0002 a0008 a0017	a0002c0001 a0002c0033 a0008c0018 others(1): Show a0002c0001 a0002c0033 a0008c0018 a0017c0038	a0002c0001t0001 a0002c0001t0002 a0002c0033t0013 others(2): Show a0002c0001t0001 a0002c0001t0002 a0002c0033t0013 a0008c0018t0001 a0017c0038t0002	a0002c0001t0001g0100 a0002c0001t0001g0110 a0002c0001t0002g0097 others(10): Show a0002c0001t0001g0100 a0002c0001t0001g0110 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0099 a0002c0001t0002g0101 a0002c0001t0002g0109 a0002c0001t0002g0183 a0002c0001t0002g0184 a0002c0033t0013g0111 a0008c0018t0001g0023 a0008c0018t0001g0082 a0017c0038t0002g0108	13	184	0.0707	0	c.199 others(6): Show c.1998+4T>A		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	21/66					chr1	TogoVar
COL11A1_chr1_102871473_103113522	103003275	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG03209.hp1 HG02145.hp2 HG03209.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0051 a0001c0019t0003g0054 a0001c0019t0003g0051 a0001c0019t0003g0054	2	184	0.0109	0	c.194 others(6): Show c.1945-7C>A		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	20/66					chr1	TogoVar
COL11A1_chr1_102871473_103113522	103031249	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00735.hp2 HG02027.hp1 others(9): Show HG00408.hp2 HG00735.hp2 HG02027.hp1 HG03516.hp1 HG03704.hp2 NA18955.hp2 NA18966.hp2 NA18977.hp1 NA18985.hp1 NA18998.hp2 NA19075.hp2 NA20805.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0005 a0002c0024 a0006c0039 others(1): Show a0001c0005 a0002c0024 a0006c0039 a0007c0015	a0001c0005t0005 a0001c0005t0012 a0002c0024t0002 others(2): Show a0001c0005t0005 a0001c0005t0012 a0002c0024t0002 a0006c0039t0003 a0007c0015t0005	a0001c0005t0005g0061 a0001c0005t0005g0070 a0001c0005t0005g0071 others(9): Show a0001c0005t0005g0061 a0001c0005t0005g0070 a0001c0005t0005g0071 a0001c0005t0005g0072 a0001c0005t0005g0078 a0001c0005t0005g0080 a0001c0005t0012g0077 a0002c0024t0002g0075 a0006c0039t0003g0083 a0007c0015t0005g0112 a0007c0015t0005g0113 a0007c0015t0005g0114	12	184	0.0652	1	c.652 others(6): Show c.652-6dupT		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66					chr1	TogoVar
COL11A1_chr1_102871473_103113522	103031249	G G	GAAA GAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01884.hp2 HG02257.hp2 others(11): Show HG01109.hp1 HG01884.hp2 HG02257.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03540.hp2 NA18522.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0010	a0001c0008 a0003c0026 a0004c0012 others(2): Show a0001c0008 a0003c0026 a0004c0012 a0005c0010 a0010c0028	a0001c0008t0006 a0003c0026t0002 a0004c0012t0003 others(2): Show a0001c0008t0006 a0003c0026t0002 a0004c0012t0003 a0005c0010t0001 a0010c0028t0006	a0001c0008t0006g0002 a0001c0008t0006g0003 a0001c0008t0006g0004 others(11): Show a0001c0008t0006g0002 a0001c0008t0006g0003 a0001c0008t0006g0004 a0001c0008t0006g0005 a0001c0008t0006g0006 a0003c0026t0002g0049 a0004c0012t0003g0010 a0004c0012t0003g0011 a0004c0012t0003g0012 a0005c0010t0001g0028 a0005c0010t0001g0029 a0005c0010t0001g0052 a0005c0010t0001g0053 a0010c0028t0006g0001	14	184	0.0761	3	c.652 others(14): Show c.652-8_652-6dupTTT		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66					chr1	TogoVar
COL11A1_chr1_102871473_103113522	103031249	G G	GGAA GGAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp2 HG03471.hp1 NA18906.hp1 others(1): Show HG03453.hp2 HG03471.hp1 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0007 a0001c0009t0001 a0001c0009t0007	a0001c0009t0001g0008 a0001c0009t0007g0055 a0001c0009t0007g0056 others(1): Show a0001c0009t0001g0008 a0001c0009t0007g0055 a0001c0009t0007g0056 a0001c0009t0007g0057	4	184	0.0217	3	c.652 others(14): Show c.652-6_652-5insTTC		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66					chr1	TogoVar
COL11A1_chr1_102871473_103113522	103031249	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(108): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18952.hp2 NA18955.hp1 NA18966.hp1 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18998.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19075.hp1 NA19082.hp1 NA19082.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0008 a0011 a0012 a0013 a0014 a0017 a0018	a0001c0002 a0001c0004 a0001c0006 others(20): Show a0001c0002 a0001c0004 a0001c0006 a0001c0016 a0001c0019 a0001c0031 a0002c0001 a0002c0033 a0002c0034 a0003c0003 a0003c0011 a0003c0032 a0004c0007 a0004c0013 a0004c0014 a0004c0021 a0008c0018 a0011c0037 a0012c0035 a0013c0030 a0014c0036 a0017c0038 a0018c0022	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(26): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0004 a0001c0006t0010 a0001c0016t0001 a0001c0016t0004 a0001c0019t0003 a0001c0031t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0009 a0002c0033t0013 a0002c0034t0001 a0003c0003t0002 a0003c0011t0001 a0003c0032t0002 a0004c0007t0001 a0004c0013t0001 a0004c0014t0001 a0004c0014t0003 a0004c0021t0008 a0008c0018t0001 a0011c0037t0001 a0012c0035t0001 a0013c0030t0002 a0014c0036t0001 a0017c0038t0002 a0018c0022t0002	a0001c0002t0001g0069 a0001c0002t0002g0155 a0001c0002t0003g0019 others(108): Show a0001c0002t0001g0069 a0001c0002t0002g0155 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0048 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0065 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0104 a0001c0004t0004g0018 a0001c0006t0010g0180 a0001c0016t0001g0050 a0001c0016t0001g0102 a0001c0016t0004g0058 a0001c0019t0003g0051 a0001c0019t0003g0054 a0001c0031t0001g0172 a0002c0001t0001g0100 a0002c0001t0001g0110 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0130 a0002c0001t0001g0131 a0002c0001t0001g0132 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0156 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0181 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0099 a0002c0001t0002g0101 a0002c0001t0002g0109 a0002c0001t0002g0136 a0002c0001t0002g0183 a0002c0001t0002g0184 a0002c0001t0009g0146 a0002c0033t0013g0111 a0002c0034t0001g0182 a0003c0003t0002g0030 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0123 a0003c0003t0002g0124 a0003c0003t0002g0127 a0003c0003t0002g0133 a0003c0003t0002g0135 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0141 a0003c0003t0002g0157 a0003c0003t0002g0165 a0003c0011t0001g0044 a0003c0011t0001g0060 a0003c0011t0001g0105 a0003c0011t0001g0161 a0003c0032t0002g0160 a0004c0007t0001g0089 a0004c0007t0001g0090 a0004c0007t0001g0092 a0004c0007t0001g0093 a0004c0007t0001g0094 a0004c0007t0001g0115 a0004c0013t0001g0096 a0004c0013t0001g0106 a0004c0013t0001g0107 a0004c0014t0001g0013 a0004c0014t0003g0059 a0004c0021t0008g0081 a0008c0018t0001g0023 a0008c0018t0001g0082 a0011c0037t0001g0103 a0012c0035t0001g0166 a0013c0030t0002g0158 a0014c0036t0001g0118 a0017c0038t0002g0108 a0018c0022t0002g0007	111	184	0.6033	-1	c.652 others(6): Show c.652-6delT		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66					chr1	TogoVar
COL11A1_chr1_102871473_103113522	103031249	GAA GAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp1 HG03225.hp1 HG03471.hp2 others(2): Show HG02965.hp1 HG03225.hp1 HG03471.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0008 a0001c0006t0001 a0001c0002t0001 a0001c0002t0008 a0001c0006t0001	a0001c0002t0001g0095 a0001c0002t0008g0027 a0001c0006t0001g0017 others(2): Show a0001c0002t0001g0095 a0001c0002t0008g0027 a0001c0006t0001g0017 a0001c0006t0001g0035 a0001c0006t0001g0159	5	184	0.0272	-2	c.652 others(13): Show c.652-7_652-6delTT		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66					chr1	TogoVar
COL11A1_chr1_102871473_103113522	103074787	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0050 a0001c0016t0001g0050	1	184	0.0054	0	c.489 others(5): Show c.489-7T>G		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	3/66					chr1	TogoVar
COL11A1_chr1_102871473_103113522	103078878	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01071.hp1 HG01109.hp1 HG01243.hp1 others(24): Show HG01071.hp1 HG01109.hp1 HG01243.hp1 HG01433.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp2 HG03834.hp1 HG04184.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0010 a0017	a0001c0005 a0001c0008 a0001c0009 others(6): Show a0001c0005 a0001c0008 a0001c0009 a0002c0001 a0002c0033 a0003c0026 a0005c0010 a0010c0028 a0017c0038	a0001c0005t0004 a0001c0008t0006 a0001c0009t0001 others(8): Show a0001c0005t0004 a0001c0008t0006 a0001c0009t0001 a0001c0009t0007 a0002c0001t0001 a0002c0001t0002 a0002c0033t0013 a0003c0026t0002 a0005c0010t0001 a0010c0028t0006 a0017c0038t0002	a0001c0005t0004g0015 a0001c0008t0006g0002 a0001c0008t0006g0003 others(24): Show a0001c0005t0004g0015 a0001c0008t0006g0002 a0001c0008t0006g0003 a0001c0008t0006g0004 a0001c0008t0006g0005 a0001c0008t0006g0006 a0001c0009t0001g0008 a0001c0009t0007g0055 a0001c0009t0007g0056 a0001c0009t0007g0057 a0002c0001t0001g0100 a0002c0001t0001g0110 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0099 a0002c0001t0002g0101 a0002c0001t0002g0109 a0002c0001t0002g0183 a0002c0001t0002g0184 a0002c0033t0013g0111 a0003c0026t0002g0049 a0005c0010t0001g0028 a0005c0010t0001g0029 a0005c0010t0001g0052 a0005c0010t0001g0053 a0010c0028t0006g0001 a0017c0038t0002g0108	27	184	0.1467	0	c.275 others(5): Show c.275-7T>C		COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	2/66					chr1	TogoVar
COL11A2_chr6_33157694_33197467	33163823	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03017.hp1 HG03017.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0145 a0015c0016t0001g0145	1	367	0.0027	0	c.507 others(6): Show c.5071-5T>G		COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding	65/65					chr6	TogoVar
COL11A2_chr6_33157694_33197467	33164479	A A	AGGAGAGA others(45): Show AGGAGAGAGAGGGCTGGCCTCAGAGGGGGAGAGAGAGGGCTGGCCTCAGA GGG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02738.hp2 HG03017.hp2 HG02738.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	367	0.0055	52	c.486 others(66): Show c.4864-58_4864-7dupCCCTCTGAGGCCAGCCCTCTCTCTCCCCCTC TGAGGCCAGCCCTCTCTCTCC		COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding	64/65					chr6	TogoVar
COL11A2_chr6_33157694_33197467	33167541	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0059 a0001c0025t0001g0059	1	367	0.0027	0	c.401 others(6): Show c.4015-8T>C		COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding	55/65					chr6	TogoVar
COL11A2_chr6_33157694_33197467	33170105	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0120 a0001c0006t0001g0120	1	367	0.0027	0	c.358 others(6): Show c.3583-5T>C		COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding	48/65					chr6	TogoVar
COL11A2_chr6_33157694_33197467	33173503	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp1 HG00323.hp1 HG01167.hp1 others(38): Show HG00280.hp1 HG00323.hp1 HG01167.hp1 HG01256.hp2 HG01258.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02523.hp1 HG02738.hp1 HG03669.hp1 HG03834.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA19004.hp2 NA19009.hp2 NA19057.hp2 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0030 a0003c0003 a0003c0030	a0003c0003t0001 a0003c0030t0001 a0003c0003t0001 a0003c0030t0001	a0003c0003t0001g0002 a0003c0003t0001g0007 a0003c0003t0001g0029 others(8): Show a0003c0003t0001g0002 a0003c0003t0001g0007 a0003c0003t0001g0029 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0142 a0003c0030t0001g0097	41	367	0.1117	0	c.268 others(4): Show c.2681C>T	p.Pro others(6): Show p.Pro894Leu	COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding	36/66	2908/6422	2681/5211	894/1736		chr6	TogoVar
COL11A2_chr6_33157694_33197467	33173698	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(248): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0006 a0001c0008 others(21): Show a0001c0001 a0001c0006 a0001c0008 a0001c0027 a0001c0031 a0001c0032 a0001c0033 a0002c0002 a0002c0005 a0002c0020 a0002c0021 a0004c0007 a0005c0009 a0005c0018 a0006c0011 a0007c0012 a0008c0015 a0008c0034 a0010c0023 a0010c0026 a0011c0028 a0012c0029 a0013c0019 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0008t0003 a0001c0027t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0003 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0005t0001 a0002c0005t0004 a0002c0020t0001 a0002c0021t0001 a0004c0007t0001 a0005c0009t0001 a0005c0018t0001 a0006c0011t0001 a0007c0012t0001 a0008c0015t0001 a0008c0034t0001 a0010c0023t0001 a0010c0026t0001 a0011c0028t0001 a0012c0029t0001 a0013c0019t0001 a0014c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0002g0005 a0001c0001t0002g0050 a0001c0006t0001g0120 a0001c0008t0003g0023 a0001c0008t0003g0031 a0001c0008t0003g0051 a0001c0008t0003g0053 a0001c0027t0001g0136 a0001c0031t0001g0144 a0001c0032t0001g0082 a0001c0033t0003g0052 a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0126 a0002c0002t0001g0135 a0002c0002t0006g0114 a0002c0002t0007g0104 a0002c0002t0008g0127 a0002c0005t0001g0008 a0002c0005t0001g0009 a0002c0005t0001g0017 a0002c0005t0001g0139 a0002c0005t0001g0140 a0002c0005t0004g0047 a0002c0005t0004g0147 a0002c0020t0001g0128 a0002c0021t0001g0113 a0004c0007t0001g0027 a0004c0007t0001g0028 a0004c0007t0001g0035 a0004c0007t0001g0063 a0004c0007t0001g0075 a0004c0007t0001g0085 a0005c0009t0001g0041 a0005c0009t0001g0042 a0005c0009t0001g0108 a0005c0018t0001g0109 a0006c0011t0001g0026 a0007c0012t0001g0037 a0007c0012t0001g0089 a0008c0015t0001g0032 a0008c0034t0001g0060 a0010c0023t0001g0133 a0010c0026t0001g0143 a0011c0028t0001g0068 a0012c0029t0001g0080 a0013c0019t0001g0110 a0014c0017t0001g0138	251	367	0.6839	0	c.262 others(6): Show c.2628+3G>A		COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding	35/65					chr6	TogoVar
COL11A2_chr6_33157694_33197467	33176714	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp2 HG03225.hp2 HG03098.hp2 HG03225.hp2	a0001 a0010 a0001 a0010	a0001c0031 a0010c0026 a0001c0031 a0010c0026	a0001c0031t0001 a0010c0026t0001 a0001c0031t0001 a0010c0026t0001	a0001c0031t0001g0144 a0010c0026t0001g0143 a0001c0031t0001g0144 a0010c0026t0001g0143	2	367	0.0055	0	c.211 others(6): Show c.2115+7T>C		COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding	26/65					chr6	TogoVar
COL11A2_chr6_33157694_33197467	33179812	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(364): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.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 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0004 a0001c0006 others(31): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0014 a0001c0024 a0001c0025 a0001c0027 a0001c0031 a0001c0032 a0001c0033 a0002c0002 a0002c0005 a0002c0020 a0002c0021 a0003c0003 a0003c0030 a0004c0007 a0004c0022 a0005c0009 a0005c0018 a0006c0011 a0007c0012 a0008c0015 a0008c0034 a0009c0013 a0010c0023 a0010c0026 a0011c0028 a0012c0029 a0013c0019 a0014c0017 a0015c0016	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0006t0001 a0001c0006t0005 a0001c0008t0003 a0001c0010t0001 a0001c0014t0001 a0001c0024t0001 a0001c0025t0001 a0001c0027t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0003 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0005t0001 a0002c0005t0004 a0002c0020t0001 a0002c0021t0001 a0003c0003t0001 a0003c0030t0001 a0004c0007t0001 a0004c0022t0001 a0005c0009t0001 a0005c0018t0001 a0006c0011t0001 a0007c0012t0001 a0008c0015t0001 a0008c0034t0001 a0009c0013t0001 a0010c0023t0001 a0010c0026t0001 a0011c0028t0001 a0012c0029t0001 a0013c0019t0001 a0014c0017t0001 a0015c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 others(144): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0002g0005 a0001c0001t0002g0050 a0001c0004t0001g0004 a0001c0004t0001g0013 a0001c0004t0001g0030 a0001c0004t0001g0045 a0001c0004t0001g0088 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0131 a0001c0004t0001g0134 a0001c0006t0001g0010 a0001c0006t0001g0012 a0001c0006t0001g0044 a0001c0006t0001g0054 a0001c0006t0001g0055 a0001c0006t0001g0056 a0001c0006t0001g0057 a0001c0006t0001g0058 a0001c0006t0001g0101 a0001c0006t0001g0120 a0001c0006t0001g0121 a0001c0006t0001g0122 a0001c0006t0001g0123 a0001c0006t0001g0124 a0001c0006t0005g0125 a0001c0008t0003g0023 a0001c0008t0003g0031 a0001c0008t0003g0051 a0001c0008t0003g0053 a0001c0010t0001g0022 a0001c0014t0001g0049 a0001c0024t0001g0132 a0001c0025t0001g0059 a0001c0027t0001g0136 a0001c0031t0001g0144 a0001c0032t0001g0082 a0001c0033t0003g0052 a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0126 a0002c0002t0001g0135 a0002c0002t0006g0114 a0002c0002t0007g0104 a0002c0002t0008g0127 a0002c0005t0001g0008 a0002c0005t0001g0009 a0002c0005t0001g0017 a0002c0005t0001g0139 a0002c0005t0001g0140 a0002c0005t0004g0047 a0002c0005t0004g0147 a0002c0020t0001g0128 a0002c0021t0001g0113 a0003c0003t0001g0002 a0003c0003t0001g0007 a0003c0003t0001g0029 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0142 a0003c0030t0001g0097 a0004c0007t0001g0025 a0004c0007t0001g0027 a0004c0007t0001g0028 a0004c0007t0001g0035 a0004c0007t0001g0063 a0004c0007t0001g0075 a0004c0007t0001g0085 a0004c0007t0001g0118 a0004c0007t0001g0119 a0004c0022t0001g0117 a0005c0009t0001g0041 a0005c0009t0001g0042 a0005c0009t0001g0108 a0005c0018t0001g0109 a0006c0011t0001g0026 a0007c0012t0001g0037 a0007c0012t0001g0089 a0008c0015t0001g0032 a0008c0034t0001g0060 a0009c0013t0001g0043 a0010c0023t0001g0133 a0010c0026t0001g0143 a0011c0028t0001g0068 a0012c0029t0001g0080 a0013c0019t0001g0110 a0014c0017t0001g0138 a0015c0016t0001g0145	367	367	1.0000	0	c.136 others(6): Show c.1360-7A>C		COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding	12/65					chr6	TogoVar
COL11A2_chr6_33157694_33197467	33185058	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(92): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02004.hp2 HG02055.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp1 NA18943.hp2 NA18944.hp1 NA18951.hp1 NA18954.hp1 NA18964.hp1 NA18972.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA18995.hp2 NA19003.hp1 NA19004.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0002 a0005 a0007 others(2): Show a0002 a0005 a0007 a0013 a0014	a0002c0002 a0002c0005 a0002c0020 others(6): Show a0002c0002 a0002c0005 a0002c0020 a0002c0021 a0005c0009 a0005c0018 a0007c0012 a0013c0019 a0014c0017	a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 others(10): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0005t0001 a0002c0005t0004 a0002c0020t0001 a0002c0021t0001 a0005c0009t0001 a0005c0018t0001 a0007c0012t0001 a0013c0019t0001 a0014c0017t0001	a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0016 others(34): Show a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0126 a0002c0002t0001g0135 a0002c0002t0006g0114 a0002c0002t0007g0104 a0002c0002t0008g0127 a0002c0005t0001g0008 a0002c0005t0001g0009 a0002c0005t0001g0017 a0002c0005t0001g0139 a0002c0005t0001g0140 a0002c0005t0004g0047 a0002c0005t0004g0147 a0002c0020t0001g0128 a0002c0021t0001g0113 a0005c0009t0001g0041 a0005c0009t0001g0042 a0005c0009t0001g0108 a0005c0018t0001g0109 a0007c0012t0001g0037 a0007c0012t0001g0089 a0013c0019t0001g0110 a0014c0017t0001g0138	95	367	0.2589	0	c.877 others(5): Show c.877-4T>A		COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding	6/65					chr6	TogoVar
COL11A2_chr6_33157694_33197467	33189322	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03017.hp1 HG03017.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0145 a0015c0016t0001g0145	1	367	0.0027	0	c.230 others(3): Show c.230C>A	p.Pro others(5): Show p.Pro77Gln	COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding	2/66	457/6422	230/5211	77/1736		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75181216	TTAA TTAA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp1 HG03195.hp1 HG02976.hp1 HG03195.hp1	a0002 a0005 a0002 a0005	a0002c0017 a0005c0016 a0002c0017 a0005c0016	a0002c0017t0002 a0005c0016t0006 a0002c0017t0002 a0005c0016t0006	a0002c0017t0002g0037 a0005c0016t0006g0028 a0002c0017t0002g0037 a0005c0016t0006g0028	2	206	0.0097	-3	c.189 others(16): Show c.1892-8_1892-6delTTA		COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding	10/65					chr6	TogoVar
COL12A1_chr6_75079326_75211053	75181217	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(139): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0013 a0014 a0015 a0017 a0018 a0019 a0020 a0023 a0024 a0026	a0001c0001 a0001c0005 a0001c0019 others(33): Show a0001c0001 a0001c0005 a0001c0019 a0001c0022 a0001c0035 a0001c0037 a0001c0038 a0001c0039 a0001c0041 a0001c0043 a0002c0002 a0002c0006 a0002c0023 a0003c0003 a0003c0021 a0003c0027 a0003c0031 a0004c0004 a0004c0012 a0005c0008 a0005c0013 a0006c0007 a0007c0009 a0008c0011 a0009c0010 a0010c0014 a0013c0024 a0014c0025 a0015c0042 a0017c0034 a0018c0036 a0019c0040 a0020c0030 a0023c0029 a0024c0020 a0026c0048	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0019t0005 a0001c0022t0001 a0001c0035t0003 a0001c0037t0001 a0001c0038t0004 a0001c0039t0001 a0001c0041t0007 a0001c0043t0001 a0002c0002t0001 a0002c0002t0002 a0002c0006t0002 a0002c0006t0014 a0002c0023t0005 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0007 a0003c0021t0013 a0003c0027t0009 a0003c0031t0001 a0004c0004t0001 a0004c0004t0017 a0004c0004t0018 a0004c0012t0001 a0005c0008t0006 a0005c0013t0006 a0006c0007t0005 a0006c0007t0006 a0007c0009t0002 a0008c0011t0007 a0008c0011t0012 a0009c0010t0005 a0010c0014t0002 a0013c0024t0003 a0014c0025t0001 a0015c0042t0002 a0017c0034t0006 a0018c0036t0005 a0019c0040t0005 a0020c0030t0020 a0023c0029t0001 a0024c0020t0007 a0026c0048t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 others(136): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0017 a0001c0001t0002g0091 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0150 a0001c0001t0003g0155 a0001c0001t0004g0019 a0001c0001t0004g0073 a0001c0001t0004g0082 a0001c0001t0004g0090 a0001c0001t0004g0105 a0001c0001t0004g0115 a0001c0001t0004g0124 a0001c0001t0004g0137 a0001c0001t0019g0077 a0001c0001t0021g0201 a0001c0001t0022g0063 a0001c0005t0001g0038 a0001c0005t0001g0075 a0001c0005t0002g0098 a0001c0005t0002g0142 a0001c0005t0002g0143 a0001c0005t0005g0129 a0001c0019t0005g0048 a0001c0022t0001g0136 a0001c0035t0003g0101 a0001c0037t0001g0064 a0001c0038t0004g0023 a0001c0039t0001g0140 a0001c0041t0007g0146 a0001c0043t0001g0078 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0060 a0002c0002t0001g0071 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0097 a0002c0002t0001g0102 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0122 a0002c0002t0001g0131 a0002c0002t0001g0151 a0002c0002t0002g0053 a0002c0002t0002g0085 a0002c0006t0002g0066 a0002c0006t0002g0106 a0002c0006t0002g0119 a0002c0006t0014g0050 a0002c0023t0005g0123 a0003c0003t0001g0057 a0003c0003t0001g0067 a0003c0003t0001g0096 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0114 a0003c0003t0001g0126 a0003c0003t0002g0100 a0003c0003t0003g0035 a0003c0003t0003g0156 a0003c0003t0004g0001 a0003c0003t0007g0120 a0003c0021t0013g0043 a0003c0027t0009g0125 a0003c0031t0001g0107 a0004c0004t0001g0083 a0004c0004t0001g0108 a0004c0004t0017g0099 a0004c0004t0018g0132 a0004c0012t0001g0052 a0005c0008t0006g0036 a0005c0008t0006g0128 a0005c0013t0006g0147 a0005c0013t0006g0148 a0006c0007t0005g0044 a0006c0007t0006g0039 a0006c0007t0006g0040 a0007c0009t0002g0003 a0008c0011t0007g0042 a0008c0011t0012g0041 a0009c0010t0005g0045 a0009c0010t0005g0127 a0010c0014t0002g0196 a0013c0024t0003g0118 a0014c0025t0001g0069 a0015c0042t0002g0094 a0017c0034t0006g0200 a0018c0036t0005g0149 a0019c0040t0005g0154 a0020c0030t0020g0202 a0023c0029t0001g0026 a0024c0020t0007g0047 a0026c0048t0001g0117	142	206	0.6893	1	c.189 others(7): Show c.1892-7dupT		COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding	10/65					chr6	TogoVar
COL12A1_chr6_75079326_75211053	75181217	T T	TAA TAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02698.hp2 HG03491.hp1 others(3): Show HG02486.hp2 HG02698.hp2 HG03491.hp1 NA18945.hp1 NA18962.hp1 NA18962.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0004c0004t0003	a0001c0001t0001g0059 a0001c0001t0001g0144 a0001c0001t0004g0013 others(3): Show a0001c0001t0001g0059 a0001c0001t0001g0144 a0001c0001t0004g0013 a0001c0001t0004g0014 a0002c0002t0001g0012 a0004c0004t0003g0157	6	206	0.0291	2	c.189 others(15): Show c.1892-8_1892-7dupTT		COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding	10/65					chr6	TogoVar
COL12A1_chr6_75079326_75211053	75181217	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG01109.hp2 HG02015.hp1 others(38): Show HG00621.hp1 HG01109.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02109.hp2 HG02148.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG03098.hp1 HG03225.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18945.hp2 NA18979.hp1 NA18982.hp1 NA19030.hp1 NA19030.hp2 NA19070.hp2 NA19087.hp2 NA19240.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011 a0012 a0016 a0021 a0025 a0029	a0001c0001 a0001c0005 a0001c0045 others(14): Show a0001c0001 a0001c0005 a0001c0045 a0001c0046 a0002c0002 a0002c0006 a0003c0003 a0004c0004 a0005c0008 a0006c0026 a0010c0014 a0011c0051 a0012c0015 a0016c0044 a0021c0033 a0025c0047 a0029c0052	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0005t0005 a0001c0045t0003 a0001c0046t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0002c0006t0002 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0016 a0004c0004t0001 a0005c0008t0006 a0006c0026t0006 a0010c0014t0005 a0011c0051t0007 a0012c0015t0009 a0016c0044t0015 a0021c0033t0002 a0025c0047t0005 a0029c0052t0008	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(38): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0003g0162 a0001c0001t0004g0183 a0001c0001t0010g0171 a0001c0005t0005g0170 a0001c0045t0003g0134 a0001c0046t0007g0133 a0002c0002t0001g0178 a0002c0002t0001g0191 a0002c0002t0002g0163 a0002c0002t0002g0176 a0002c0002t0008g0169 a0002c0006t0002g0175 a0003c0003t0001g0167 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0182 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0190 a0003c0003t0003g0177 a0003c0003t0004g0049 a0003c0003t0016g0172 a0004c0004t0001g0173 a0004c0004t0001g0189 a0005c0008t0006g0158 a0006c0026t0006g0168 a0010c0014t0005g0197 a0011c0051t0007g0194 a0012c0015t0009g0027 a0016c0044t0015g0135 a0021c0033t0002g0186 a0025c0047t0005g0192 a0029c0052t0008g0198	41	206	0.1990	-1	c.189 others(7): Show c.1892-7delT		COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding	10/65					chr6	TogoVar
COL13A1_chr10_69796906_69964144	69880499	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(104): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01516.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18906.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0005 a0002c0008 a0002c0028 a0002c0030 a0004c0010 a0007c0021 a0009c0027 a0010c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0006t0001 a0002c0005t0001 a0002c0008t0001 a0002c0028t0004 a0002c0030t0001 a0004c0010t0002 a0007c0021t0001 a0009c0027t0002 a0010c0018t0006	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0036 others(104): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0151 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0102 a0001c0001t0002g0137 a0001c0001t0002g0190 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0002t0001g0184 a0001c0002t0001g0205 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0226 a0001c0002t0001g0249 a0001c0002t0001g0277 a0001c0002t0001g0281 a0001c0002t0001g0288 a0001c0002t0001g0317 a0001c0002t0003g0238 a0001c0002t0003g0241 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0263 a0001c0002t0003g0265 a0001c0002t0003g0269 a0001c0002t0003g0314 a0001c0002t0004g0295 a0001c0002t0004g0297 a0001c0002t0004g0310 a0001c0002t0005g0240 a0001c0002t0005g0256 a0001c0002t0008g0319 a0001c0002t0016g0242 a0001c0003t0001g0015 a0001c0003t0001g0018 a0001c0003t0001g0030 a0001c0003t0001g0053 a0001c0003t0001g0072 a0001c0003t0001g0079 a0001c0003t0001g0095 a0001c0003t0001g0099 a0001c0003t0001g0104 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0146 a0001c0003t0002g0097 a0001c0003t0002g0098 a0001c0003t0002g0117 a0001c0003t0002g0121 a0001c0003t0002g0130 a0001c0003t0002g0131 a0001c0003t0002g0133 a0001c0003t0002g0135 a0001c0003t0002g0145 a0001c0003t0002g0147 a0001c0003t0002g0186 a0001c0003t0002g0196 a0001c0004t0001g0217 a0001c0004t0001g0227 a0001c0004t0001g0228 a0001c0004t0001g0274 a0001c0004t0001g0282 a0001c0004t0002g0220 a0001c0004t0002g0284 a0001c0004t0003g0254 a0001c0004t0003g0258 a0001c0006t0001g0019 a0002c0005t0001g0168 a0002c0008t0001g0148 a0002c0028t0004g0294 a0002c0030t0001g0309 a0004c0010t0002g0103 a0007c0021t0001g0024 a0009c0027t0002g0189 a0010c0018t0006g0007	107	324	0.3303	0	c.463 others(5): Show c.463-4G>A		COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	6/40					chr10	TogoVar
COL13A1_chr10_69796906_69964144	69887440	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00673.hp2 HG00741.hp2 others(10): Show HG00323.hp1 HG00673.hp2 HG00741.hp2 HG01074.hp2 HG01358.hp2 HG02015.hp1 HG02040.hp1 HG02258.hp2 HG02683.hp1 HG03834.hp2 NA18983.hp2 NA19060.hp2 NA19088.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0004c0010 a0004c0026	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0004c0010t0002 a0004c0026t0002	a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0081 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0081 a0001c0001t0001g0108 a0001c0001t0001g0129 a0001c0002t0001g0222 a0001c0002t0001g0279 a0001c0002t0003g0238 a0001c0004t0002g0173 a0001c0004t0003g0235 a0001c0004t0005g0270 a0004c0010t0002g0107 a0004c0026t0002g0230	13	324	0.0401	1	c.514 others(6): Show c.514-4dupT		COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	7/40				INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69887440	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01071.hp1 HG01109.hp2 others(17): Show HG01069.hp1 HG01071.hp1 HG01109.hp2 HG01123.hp1 HG01496.hp1 HG02015.hp2 HG02027.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02723.hp1 HG03098.hp2 HG03239.hp2 HG03453.hp2 HG03516.hp1 HG04184.hp2 HG04204.hp2 NA18952.hp1 NA18952.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0001c0007 a0001c0009 others(4): Show a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0002c0030 a0002c0031 a0003c0023	a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 others(8): Show a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0003 a0001c0009t0001 a0001c0009t0005 a0001c0011t0001 a0001c0011t0002 a0002c0030t0001 a0002c0031t0012 a0003c0023t0004	a0001c0006t0001g0008 a0001c0006t0001g0009 a0001c0006t0001g0012 others(17): Show a0001c0006t0001g0008 a0001c0006t0001g0009 a0001c0006t0001g0012 a0001c0006t0001g0019 a0001c0006t0002g0059 a0001c0006t0002g0069 a0001c0007t0001g0180 a0001c0007t0001g0208 a0001c0007t0001g0210 a0001c0007t0001g0290 a0001c0007t0003g0182 a0001c0007t0003g0308 a0001c0009t0001g0179 a0001c0009t0001g0215 a0001c0009t0005g0239 a0001c0011t0001g0001 a0001c0011t0002g0021 a0002c0030t0001g0309 a0002c0031t0012g0153 a0003c0023t0004g0312	20	324	0.0617	-1	c.514 others(6): Show c.514-4delT		COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	7/40				INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69887491	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0049 a0001c0016t0001g0049	1	324	0.0031	0	c.549 others(3): Show c.549G>A	p.Pro others(6): Show p.Pro183Pro	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	8/41	1067/3148	549/2187	183/728		chr10	TogoVar
COL13A1_chr10_69796906_69964144	69902853	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01346.hp1 HG01346.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0006 a0010c0018t0006	a0010c0018t0006g0007 a0010c0018t0006g0007	1	324	0.0031	0	c.856 others(3): Show c.856C>T	p.Pro others(6): Show p.Pro286Ser	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	15/41	1374/3148	856/2187	286/728		chr10	TogoVar
COL13A1_chr10_69796906_69964144	69918322	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0291 a0001c0002t0001g0291	1	324	0.0031	0	c.999 others(5): Show c.999+5G>A		COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	19/40					chr10	TogoVar
COL13A1_chr10_69796906_69964144	69925801	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG01192.hp1 HG02257.hp1 others(6): Show HG00099.hp1 HG01192.hp1 HG02257.hp1 HG02615.hp2 HG02717.hp1 HG02735.hp2 HG03195.hp1 NA18906.hp1 NA19043.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0002c0024 others(2): Show a0001c0001 a0001c0002 a0002c0024 a0002c0030 a0011c0022	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0002c0024t0003 a0002c0030t0001 a0011c0022t0010	a0001c0001t0001g0141 a0001c0001t0001g0194 a0001c0001t0001g0202 others(6): Show a0001c0001t0001g0141 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0002g0071 a0001c0001t0002g0115 a0001c0002t0004g0293 a0002c0024t0003g0264 a0002c0030t0001g0309 a0011c0022t0010g0232	9	324	0.0278	0	c.133 others(6): Show c.1330-3C>T		COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	25/40					chr10	TogoVar
COL13A1_chr10_69796906_69964144	69935391	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02257.hp1 HG03195.hp1 HG02257.hp1 HG03195.hp1	a0002 a0002	a0002c0024 a0002c0030 a0002c0024 a0002c0030	a0002c0024t0003 a0002c0030t0001 a0002c0024t0003 a0002c0030t0001	a0002c0024t0003g0264 a0002c0030t0001g0309 a0002c0024t0003g0264 a0002c0030t0001g0309	2	324	0.0062	0	c.177 others(4): Show c.1770G>A	p.Pro others(6): Show p.Pro590Pro	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/41	2288/3148	1770/2187	590/728		chr10	TogoVar
COL13A1_chr10_69796906_69964144	69937632	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	324	0.0031	0	c.179 others(6): Show c.1798-3C>T		COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	33/40					chr10	TogoVar
COL13A1_chr10_69796906_69964144	69956997	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp1 HG01358.hp1 HG02165.hp2 others(1): Show HG01346.hp1 HG01358.hp1 HG02165.hp2 HG03239.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0018 a0001c0001 a0001c0002 a0010c0018	a0001c0001t0006 a0001c0002t0006 a0001c0002t0015 others(1): Show a0001c0001t0006 a0001c0002t0006 a0001c0002t0015 a0010c0018t0006	a0001c0001t0006g0063 a0001c0002t0006g0287 a0001c0002t0015g0253 others(1): Show a0001c0001t0006g0063 a0001c0002t0006g0287 a0001c0002t0015g0253 a0010c0018t0006g0007	4	324	0.0124	0	c.214 others(6): Show c.2146-7C>T		COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	39/40					chr10	TogoVar
COL14A1_chr8_120120102_120378573	120206935	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG02132.hp2 NA18979.hp1 HG00408.hp2 HG02132.hp2 NA18979.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0167 a0003c0004t0001g0169 a0003c0004t0001g0170 a0003c0004t0001g0167 a0003c0004t0001g0169 a0003c0004t0001g0170	3	218	0.0138	0	c.104 others(6): Show c.1040-8T>A		COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	9/47					chr8	TogoVar
COL14A1_chr8_120120102_120378573	120209753	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02523.hp1 HG02523.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0171 a0007c0018t0001g0171	1	218	0.0046	0	c.132 others(6): Show c.1322-3C>T		COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	11/47					chr8	TogoVar
COL14A1_chr8_120120102_120378573	120247735	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0135 a0010c0022t0001g0135	1	218	0.0046	0	c.260 others(4): Show c.2602G>A	p.Val others(6): Show p.Val868Ile	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	21/48	2878/8009	2602/5391	868/1796		chr8	TogoVar
COL14A1_chr8_120120102_120378573	120255359	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0009 a0001c0014t0004g0009	1	218	0.0046	0	c.286 others(6): Show c.2869+3G>A		COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	23/47					chr8	TogoVar
COL14A1_chr8_120120102_120378573	120280708	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01517.hp1 HG02602.hp2 HG01517.hp1 HG02602.hp2	a0002 a0014 a0002 a0014	a0002c0002 a0014c0038 a0002c0002 a0014c0038	a0002c0002t0001 a0014c0038t0001 a0002c0002t0001 a0014c0038t0001	a0002c0002t0001g0118 a0014c0038t0001g0031 a0002c0002t0001g0118 a0014c0038t0001g0031	2	218	0.0092	0	c.364 others(6): Show c.3647-3C>T		COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	29/47					chr8	TogoVar
COL14A1_chr8_120120102_120378573	120280903	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00438.hp2 HG00544.hp1 others(111): Show HG00140.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp1 HG01192.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18968.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0007 a0009 a0010 a0011 a0012	a0001c0001 a0001c0003 a0001c0005 others(22): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0013 a0001c0014 a0001c0015 a0001c0021 a0001c0024 a0001c0027 a0001c0040 a0002c0002 a0002c0006 a0002c0012 a0002c0016 a0002c0017 a0002c0032 a0002c0036 a0006c0019 a0006c0020 a0007c0018 a0009c0029 a0010c0022 a0011c0025 a0012c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0015 a0001c0003t0016 a0001c0003t0019 a0001c0005t0001 a0001c0005t0005 a0001c0007t0001 a0001c0007t0009 a0001c0013t0004 a0001c0014t0012 a0001c0015t0003 a0001c0021t0002 a0001c0024t0003 a0001c0027t0002 a0001c0040t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0006t0002 a0002c0006t0006 a0002c0006t0008 a0002c0012t0002 a0002c0016t0002 a0002c0016t0003 a0002c0017t0002 a0002c0032t0002 a0002c0036t0001 a0006c0019t0005 a0006c0020t0001 a0007c0018t0001 a0007c0018t0002 a0009c0029t0001 a0010c0022t0001 a0011c0025t0001 a0012c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0034 others(111): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0204 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0032 a0001c0001t0002g0053 a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0002g0091 a0001c0001t0002g0100 a0001c0001t0002g0111 a0001c0001t0002g0129 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0186 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0215 a0001c0001t0003g0043 a0001c0001t0003g0093 a0001c0001t0003g0102 a0001c0001t0003g0149 a0001c0001t0003g0155 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0198 a0001c0001t0005g0022 a0001c0001t0010g0005 a0001c0003t0001g0035 a0001c0003t0001g0064 a0001c0003t0001g0090 a0001c0003t0001g0095 a0001c0003t0001g0125 a0001c0003t0002g0056 a0001c0003t0002g0060 a0001c0003t0002g0084 a0001c0003t0002g0092 a0001c0003t0002g0099 a0001c0003t0002g0108 a0001c0003t0002g0112 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0168 a0001c0003t0002g0195 a0001c0003t0003g0088 a0001c0003t0003g0172 a0001c0003t0015g0194 a0001c0003t0016g0138 a0001c0003t0019g0076 a0001c0005t0001g0014 a0001c0005t0001g0040 a0001c0005t0001g0041 a0001c0005t0001g0067 a0001c0005t0001g0068 a0001c0005t0005g0141 a0001c0007t0001g0083 a0001c0007t0001g0216 a0001c0007t0009g0045 a0001c0007t0009g0046 a0001c0013t0004g0071 a0001c0014t0012g0026 a0001c0015t0003g0094 a0001c0015t0003g0096 a0001c0021t0002g0191 a0001c0024t0003g0104 a0001c0027t0002g0131 a0001c0040t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0061 a0002c0002t0001g0097 a0002c0002t0001g0164 a0002c0002t0001g0181 a0002c0002t0002g0051 a0002c0002t0002g0127 a0002c0002t0002g0132 a0002c0002t0002g0175 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0003g0021 a0002c0002t0003g0176 a0002c0006t0002g0033 a0002c0006t0006g0212 a0002c0006t0008g0087 a0002c0012t0002g0140 a0002c0012t0002g0214 a0002c0016t0002g0074 a0002c0016t0003g0152 a0002c0017t0002g0201 a0002c0017t0002g0202 a0002c0032t0002g0059 a0002c0036t0001g0004 a0006c0019t0005g0017 a0006c0020t0001g0042 a0007c0018t0001g0171 a0007c0018t0002g0136 a0009c0029t0001g0114 a0010c0022t0001g0135 a0011c0025t0001g0157 a0012c0023t0001g0038	114	218	0.5229	-2	c.368 others(15): Show c.3686-4_3686-3delTT		COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	30/47				INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120280903	CTTT CTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp1 HG02897.hp1 HG02976.hp1 others(2): Show HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03516.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0033 a0002c0002 a0002c0033	a0002c0002t0001 a0002c0033t0001 a0002c0002t0001 a0002c0033t0001	a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0207 others(2): Show a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0033t0001g0211	5	218	0.0229	-3	c.368 others(16): Show c.3686-5_3686-3delTTT		COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	30/47				INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120342382	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01169.hp2 HG02723.hp1 HG02922.hp2 others(6): Show HG01169.hp2 HG02723.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03516.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0013 a0001c0014 a0002c0037 others(2): Show a0001c0013 a0001c0014 a0002c0037 a0005c0011 a0005c0030	a0001c0013t0004 a0001c0014t0004 a0001c0014t0012 others(3): Show a0001c0013t0004 a0001c0014t0004 a0001c0014t0012 a0002c0037t0011 a0005c0011t0004 a0005c0030t0004	a0001c0013t0004g0071 a0001c0013t0004g0085 a0001c0014t0004g0009 others(6): Show a0001c0013t0004g0071 a0001c0013t0004g0085 a0001c0014t0004g0009 a0001c0014t0012g0026 a0002c0037t0011g0012 a0005c0011t0004g0039 a0005c0011t0004g0075 a0005c0011t0004g0209 a0005c0030t0004g0139	9	218	0.0413	0	c.482 others(4): Show c.4824T>C	p.Gly others(7): Show p.Gly1608Gly	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	44/48	5100/8009	4824/5391	1608/1796		chr8	TogoVar
COL14A1_chr8_120120102_120378573	120371146	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG03098.hp1 HG03195.hp1 HG02572.hp2 HG03098.hp1 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0002 a0003c0010t0002 a0001c0001t0002 a0003c0010t0002	a0001c0001t0002g0032 a0001c0001t0002g0072 a0003c0010t0002g0078 a0001c0001t0002g0032 a0001c0001t0002g0072 a0003c0010t0002g0078	3	218	0.0138	0	c.531 others(6): Show c.5312-6C>T		COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	47/47					chr8	TogoVar
COL15A1_chr9_98938907_99075787	99020374	ATCT ATCT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18948.hp1 NA18950.hp2 NA18979.hp2 others(1): Show NA18948.hp1 NA18950.hp2 NA18979.hp2 NA18984.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0095 a0003c0006t0001g0096 a0003c0006t0001g0097 others(1): Show a0003c0006t0001g0095 a0003c0006t0001g0096 a0003c0006t0001g0097 a0003c0006t0001g0098	4	310	0.0129	-3	c.164 others(16): Show c.1648-7_1648-5delCTT		COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	11/41				INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99022156	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(64): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp1 HG02027.hp2 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02273.hp1 HG02559.hp2 HG02572.hp2 HG02683.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18960.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18974.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18992.hp2 NA18997.hp2 NA18998.hp2 NA19005.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19091.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0013 a0014 a0016 a0018 a0053 a0056 a0057	a0001c0001 a0001c0031 a0003c0004 others(12): Show a0001c0001 a0001c0031 a0003c0004 a0003c0006 a0004c0005 a0013c0017 a0013c0047 a0014c0020 a0014c0048 a0014c0049 a0016c0022 a0018c0023 a0053c0065 a0056c0081 a0057c0080	a0001c0001t0002 a0001c0031t0001 a0003c0004t0001 others(15): Show a0001c0001t0002 a0001c0031t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0006t0001 a0004c0005t0001 a0013c0017t0001 a0013c0047t0001 a0014c0020t0001 a0014c0048t0003 a0014c0049t0001 a0016c0022t0001 a0016c0022t0002 a0018c0023t0002 a0053c0065t0001 a0056c0081t0001 a0057c0080t0002	a0001c0001t0002g0190 a0001c0031t0001g0205 a0003c0004t0001g0030 others(64): Show a0001c0001t0002g0190 a0001c0031t0001g0205 a0003c0004t0001g0030 a0003c0004t0002g0132 a0003c0004t0002g0142 a0003c0004t0002g0188 a0003c0004t0002g0189 a0003c0004t0002g0228 a0003c0004t0002g0256 a0003c0004t0002g0270 a0003c0004t0002g0271 a0003c0004t0002g0272 a0003c0004t0002g0275 a0003c0004t0002g0284 a0003c0004t0002g0299 a0003c0004t0003g0263 a0003c0006t0001g0072 a0003c0006t0001g0080 a0003c0006t0001g0081 a0003c0006t0001g0085 a0003c0006t0001g0095 a0003c0006t0001g0096 a0003c0006t0001g0097 a0003c0006t0001g0098 a0003c0006t0001g0141 a0003c0006t0001g0146 a0003c0006t0001g0264 a0003c0006t0001g0269 a0003c0006t0001g0279 a0003c0006t0001g0298 a0004c0005t0001g0006 a0004c0005t0001g0010 a0004c0005t0001g0017 a0004c0005t0001g0042 a0004c0005t0001g0045 a0004c0005t0001g0074 a0004c0005t0001g0094 a0004c0005t0001g0101 a0004c0005t0001g0106 a0004c0005t0001g0121 a0004c0005t0001g0158 a0004c0005t0001g0261 a0004c0005t0001g0276 a0004c0005t0001g0295 a0004c0005t0001g0307 a0013c0017t0001g0019 a0013c0017t0001g0065 a0013c0017t0001g0071 a0013c0017t0001g0084 a0013c0017t0001g0114 a0013c0047t0001g0093 a0014c0020t0001g0058 a0014c0020t0001g0129 a0014c0020t0001g0131 a0014c0020t0001g0294 a0014c0048t0003g0115 a0014c0049t0001g0300 a0016c0022t0001g0301 a0016c0022t0002g0078 a0016c0022t0002g0226 a0016c0022t0002g0227 a0018c0023t0002g0248 a0018c0023t0002g0266 a0018c0023t0002g0267 a0053c0065t0001g0143 a0056c0081t0001g0175 a0057c0080t0002g0075	67	310	0.2161	0	c.176 others(6): Show c.1761+6A>G		COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	13/41					chr9	TogoVar
COL15A1_chr9_98938907_99075787	99023351	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00438.hp2 HG00597.hp2 others(74): Show HG00280.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp2 HG01074.hp1 HG01109.hp1 HG01123.hp2 HG01243.hp2 HG01256.hp1 HG01975.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02145.hp1 HG02155.hp1 HG02273.hp1 HG02280.hp1 HG02602.hp1 HG02602.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03239.hp2 HG03486.hp2 HG03516.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18974.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18985.hp2 NA18991.hp2 NA18992.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19076.hp2 NA19078.hp1 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0006 a0007 a0011 a0013 a0014 a0016 a0017 a0026 a0029 a0032 a0033 a0035 a0042 a0044 a0047 a0048 a0049 a0055	a0001c0001 a0001c0013 a0002c0002 others(25): Show a0001c0001 a0001c0013 a0002c0002 a0002c0003 a0002c0010 a0002c0069 a0003c0036 a0006c0007 a0007c0008 a0007c0037 a0011c0016 a0011c0039 a0013c0047 a0014c0020 a0016c0064 a0017c0021 a0026c0053 a0029c0072 a0029c0073 a0032c0040 a0033c0038 a0035c0043 a0042c0051 a0044c0058 a0047c0070 a0048c0068 a0049c0071 a0055c0082	a0001c0001t0002 a0001c0013t0001 a0002c0002t0001 others(27): Show a0001c0001t0002 a0001c0013t0001 a0002c0002t0001 a0002c0003t0002 a0002c0003t0003 a0002c0010t0001 a0002c0010t0009 a0002c0069t0010 a0003c0036t0001 a0006c0007t0001 a0007c0008t0002 a0007c0037t0001 a0011c0016t0001 a0011c0039t0001 a0013c0047t0001 a0014c0020t0001 a0016c0064t0001 a0017c0021t0001 a0026c0053t0001 a0029c0072t0001 a0029c0073t0001 a0032c0040t0002 a0033c0038t0001 a0035c0043t0001 a0042c0051t0001 a0044c0058t0002 a0047c0070t0011 a0048c0068t0002 a0049c0071t0001 a0055c0082t0009	a0001c0001t0002g0059 a0001c0001t0002g0070 a0001c0013t0001g0064 others(74): Show a0001c0001t0002g0059 a0001c0001t0002g0070 a0001c0013t0001g0064 a0001c0013t0001g0068 a0001c0013t0001g0242 a0001c0013t0001g0257 a0002c0002t0001g0007 a0002c0002t0001g0018 a0002c0002t0001g0043 a0002c0002t0001g0053 a0002c0002t0001g0066 a0002c0002t0001g0076 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0105 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0150 a0002c0002t0001g0153 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0195 a0002c0002t0001g0235 a0002c0002t0001g0245 a0002c0002t0001g0281 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0310 a0002c0003t0002g0182 a0002c0003t0002g0214 a0002c0003t0002g0236 a0002c0003t0002g0241 a0002c0003t0003g0100 a0002c0003t0003g0147 a0002c0010t0001g0008 a0002c0010t0001g0021 a0002c0010t0001g0107 a0002c0010t0001g0125 a0002c0010t0001g0145 a0002c0010t0001g0161 a0002c0010t0001g0164 a0002c0010t0001g0170 a0002c0010t0009g0204 a0002c0069t0010g0047 a0003c0036t0001g0274 a0006c0007t0001g0038 a0006c0007t0001g0039 a0006c0007t0001g0060 a0006c0007t0001g0069 a0006c0007t0001g0160 a0006c0007t0001g0216 a0007c0008t0002g0117 a0007c0008t0002g0136 a0007c0008t0002g0244 a0007c0037t0001g0187 a0011c0016t0001g0092 a0011c0039t0001g0218 a0013c0047t0001g0093 a0014c0020t0001g0058 a0014c0020t0001g0129 a0014c0020t0001g0131 a0016c0064t0001g0077 a0017c0021t0001g0232 a0026c0053t0001g0291 a0029c0072t0001g0034 a0029c0073t0001g0162 a0032c0040t0002g0137 a0033c0038t0001g0028 a0035c0043t0001g0063 a0042c0051t0001g0149 a0044c0058t0002g0144 a0047c0070t0011g0169 a0048c0068t0002g0079 a0049c0071t0001g0278 a0055c0082t0009g0005	77	310	0.2484	0	c.176 others(6): Show c.1762-6T>C		COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	13/41					chr9	TogoVar
COL15A1_chr9_98938907_99075787	99024998	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00408.hp2 NA19074.hp2 HG00408.hp2 NA19074.hp2	a0034 a0040 a0034 a0040	a0034c0042 a0040c0056 a0034c0042 a0040c0056	a0034c0042t0001 a0040c0056t0002 a0034c0042t0001 a0040c0056t0002	a0034c0042t0001g0133 a0040c0056t0002g0009 a0034c0042t0001g0133 a0040c0056t0002g0009	2	310	0.0065	0	c.197 others(4): Show c.1979C>T	p.Pro others(6): Show p.Pro660Leu	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	15/42	2134/5223	1979/4167	660/1388		chr9	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)