Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
COL6A5_chr3_130340672_130489846	130471931	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG02809.hp2 HG02965.hp1 HG02572.hp2 HG02809.hp2 HG02965.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0005 a0018c0018t0005	a0018c0018t0005g0053 a0018c0018t0005g0054 a0018c0018t0005g0055 a0018c0018t0005g0053 a0018c0018t0005g0054 a0018c0018t0005g0055	3	292	0.0103	0	c.781 others(6): Show c.7819+5T>C		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40				chr3	TogoVar
COL6A5_chr3_130340672_130489846	130471933	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(205): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(52): Show a0001 a0002 a0004 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0019 a0021 a0022 a0025 a0027 a0028 a0030 a0032 a0035 a0037 a0038 a0040 a0043 a0045 a0046 a0047 a0048 a0052 a0053 a0057 a0058 a0059 a0060 a0064 a0065 a0067 a0069 a0074 a0075 a0077 a0078 a0080 a0081 a0082 a0084 a0085 a0086 a0087 a0088 a0090 a0091	a0001c0001 a0001c0014 a0001c0040 others(62): Show a0001c0001 a0001c0014 a0001c0040 a0001c0082 a0002c0002 a0002c0034 a0002c0047 a0004c0003 a0006c0005 a0008c0010 a0008c0026 a0009c0009 a0010c0007 a0011c0012 a0012c0011 a0013c0016 a0013c0075 a0014c0013 a0015c0015 a0017c0019 a0018c0018 a0019c0017 a0021c0039 a0021c0096 a0022c0024 a0025c0041 a0027c0089 a0027c0090 a0028c0036 a0030c0035 a0032c0097 a0032c0100 a0035c0028 a0037c0032 a0038c0043 a0040c0042 a0043c0104 a0045c0077 a0046c0083 a0047c0084 a0048c0099 a0052c0101 a0053c0092 a0057c0098 a0058c0107 a0059c0073 a0060c0074 a0064c0061 a0065c0060 a0067c0058 a0069c0056 a0074c0106 a0075c0067 a0077c0065 a0078c0062 a0080c0069 a0081c0080 a0082c0045 a0084c0049 a0085c0048 a0086c0050 a0087c0076 a0088c0051 a0090c0052 a0091c0078	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(82): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0014t0002 a0001c0040t0002 a0001c0082t0002 a0002c0002t0001 a0002c0002t0002 a0002c0034t0001 a0002c0034t0002 a0002c0047t0001 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0006c0005t0001 a0006c0005t0002 a0006c0005t0003 a0008c0010t0001 a0008c0010t0005 a0008c0026t0009 a0009c0009t0002 a0010c0007t0001 a0010c0007t0009 a0011c0012t0001 a0011c0012t0002 a0011c0012t0003 a0012c0011t0002 a0012c0011t0005 a0013c0016t0001 a0013c0016t0010 a0013c0075t0016 a0014c0013t0001 a0015c0015t0001 a0015c0015t0002 a0015c0015t0009 a0017c0019t0002 a0018c0018t0001 a0018c0018t0005 a0019c0017t0001 a0019c0017t0003 a0021c0039t0001 a0021c0096t0001 a0022c0024t0002 a0025c0041t0001 a0027c0089t0002 a0027c0090t0002 a0028c0036t0003 a0030c0035t0001 a0032c0097t0001 a0032c0100t0002 a0035c0028t0001 a0037c0032t0001 a0037c0032t0005 a0038c0043t0001 a0038c0043t0003 a0040c0042t0011 a0043c0104t0002 a0045c0077t0001 a0046c0083t0001 a0047c0084t0002 a0048c0099t0002 a0052c0101t0003 a0053c0092t0002 a0057c0098t0002 a0058c0107t0003 a0059c0073t0003 a0060c0074t0002 a0064c0061t0002 a0065c0060t0005 a0067c0058t0001 a0069c0056t0001 a0074c0106t0003 a0075c0067t0001 a0077c0065t0001 a0078c0062t0003 a0080c0069t0001 a0081c0080t0011 a0082c0045t0001 a0084c0049t0001 a0085c0048t0001 a0086c0050t0001 a0087c0076t0001 a0088c0051t0001 a0090c0052t0003 a0091c0078t0002	a0001c0001t0001g0106 a0001c0001t0001g0186 a0001c0001t0002g0010 others(199): Show a0001c0001t0001g0106 a0001c0001t0001g0186 a0001c0001t0002g0010 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0003g0086 a0001c0014t0002g0185 a0001c0014t0002g0201 a0001c0014t0002g0238 a0001c0014t0002g0250 a0001c0014t0002g0255 a0001c0014t0002g0264 a0001c0040t0002g0240 a0001c0040t0002g0241 a0001c0082t0002g0253 a0002c0002t0001g0004 a0002c0002t0001g0103 a0002c0002t0001g0110 a0002c0002t0001g0121 a0002c0002t0001g0123 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0150 a0002c0002t0001g0172 a0002c0002t0001g0211 a0002c0002t0002g0032 a0002c0002t0002g0227 a0002c0034t0001g0154 a0002c0034t0002g0231 a0002c0047t0001g0111 a0004c0003t0001g0022 a0004c0003t0001g0026 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0138 a0004c0003t0001g0207 a0004c0003t0002g0193 a0004c0003t0002g0194 a0004c0003t0002g0197 a0004c0003t0002g0199 a0004c0003t0002g0236 a0004c0003t0003g0087 a0006c0005t0001g0021 a0006c0005t0002g0008 a0006c0005t0002g0228 a0006c0005t0002g0230 a0006c0005t0002g0252 a0006c0005t0003g0017 a0006c0005t0003g0039 a0006c0005t0003g0041 a0006c0005t0003g0081 a0008c0010t0001g0108 a0008c0010t0001g0119 a0008c0010t0001g0141 a0008c0010t0001g0142 a0008c0010t0001g0149 a0008c0010t0001g0169 a0008c0010t0005g0045 a0008c0026t0009g0164 a0008c0026t0009g0165 a0009c0009t0002g0094 a0009c0009t0002g0095 a0009c0009t0002g0096 a0009c0009t0002g0097 a0009c0009t0002g0100 a0009c0009t0002g0101 a0009c0009t0002g0281 a0009c0009t0002g0282 a0010c0007t0001g0105 a0010c0007t0001g0136 a0010c0007t0001g0140 a0010c0007t0001g0163 a0010c0007t0001g0167 a0010c0007t0001g0170 a0010c0007t0009g0162 a0010c0007t0009g0166 a0011c0012t0001g0023 a0011c0012t0002g0195 a0011c0012t0002g0204 a0011c0012t0003g0083 a0011c0012t0003g0084 a0011c0012t0003g0085 a0011c0012t0003g0089 a0012c0011t0002g0202 a0012c0011t0002g0203 a0012c0011t0002g0205 a0012c0011t0002g0206 a0012c0011t0002g0208 a0012c0011t0002g0209 a0012c0011t0005g0043 a0013c0016t0001g0144 a0013c0016t0010g0013 a0013c0016t0010g0014 a0013c0016t0010g0015 a0013c0016t0010g0016 a0013c0075t0016g0012 a0014c0013t0001g0098 a0014c0013t0001g0115 a0014c0013t0001g0143 a0014c0013t0001g0145 a0014c0013t0001g0146 a0014c0013t0001g0148 a0015c0015t0001g0005 a0015c0015t0001g0125 a0015c0015t0002g0226 a0015c0015t0009g0168 a0017c0019t0002g0009 a0017c0019t0002g0248 a0017c0019t0002g0249 a0018c0018t0001g0158 a0018c0018t0005g0053 a0018c0018t0005g0054 a0018c0018t0005g0055 a0019c0017t0001g0153 a0019c0017t0003g0277 a0019c0017t0003g0278 a0019c0017t0003g0279 a0021c0039t0001g0122 a0021c0039t0001g0139 a0021c0096t0001g0109 a0022c0024t0002g0003 a0022c0024t0002g0102 a0025c0041t0001g0177 a0025c0041t0001g0178 a0027c0089t0002g0200 a0027c0090t0002g0280 a0028c0036t0003g0075 a0028c0036t0003g0077 a0030c0035t0001g0217 a0030c0035t0001g0218 a0032c0097t0001g0135 a0032c0100t0002g0232 a0035c0028t0001g0099 a0035c0028t0001g0104 a0037c0032t0001g0181 a0037c0032t0005g0057 a0038c0043t0001g0183 a0038c0043t0003g0079 a0040c0042t0011g0074 a0040c0042t0011g0090 a0043c0104t0002g0092 a0045c0077t0001g0176 a0046c0083t0001g0113 a0047c0084t0002g0271 a0048c0099t0002g0229 a0052c0101t0003g0061 a0053c0092t0002g0192 a0057c0098t0002g0270 a0058c0107t0003g0072 a0059c0073t0003g0040 a0060c0074t0002g0034 a0064c0061t0002g0267 a0065c0060t0005g0042 a0067c0058t0001g0024 a0069c0056t0001g0114 a0074c0106t0003g0078 a0075c0067t0001g0159 a0077c0065t0001g0161 a0078c0062t0003g0216 a0080c0069t0001g0134 a0081c0080t0011g0059 a0082c0045t0001g0118 a0084c0049t0001g0126 a0085c0048t0001g0025 a0086c0050t0001g0132 a0087c0076t0001g0274 a0088c0051t0001g0137 a0090c0052t0003g0011 a0091c0078t0002g0276	208	292	0.7123	0	c.781 others(6): Show c.7819+7G>A		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	40/40				chr3	TogoVar
COL6A6_chr3_130512177_130682042	130560427	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03225.hp1 HG03516.hp1 NA18906.hp1 HG03225.hp1 HG03516.hp1 NA18906.hp1	a0007 a0010 a0007 a0010	a0007c0040 a0010c0086 a0007c0040 a0010c0086	a0007c0040t0004 a0010c0086t0001 a0007c0040t0004 a0010c0086t0001	a0007c0040t0004g0234 a0007c0040t0004g0235 a0010c0086t0001g0155 a0007c0040t0004g0234 a0007c0040t0004g0235 a0010c0086t0001g0155	3	264	0.0114	0	c.63C others(2): Show c.63C>T	p.Ser others(5): Show p.Ser21Ser	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	2/37	315/8689	63/6792	21/2263	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130568042	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00408.hp2 HG00558.hp1 others(121): Show HG00280.hp2 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 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 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02738.hp1 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18995.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19043.hp2 NA19058.hp1 NA19070.hp2 NA19077.hp2 NA19087.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0008 a0009 a0012 a0013 a0016 a0018 a0021 a0027 a0029 a0030 a0032 a0033 a0034 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050	a0001c0001 a0001c0056 a0002c0002 others(29): Show a0001c0001 a0001c0056 a0002c0002 a0002c0049 a0002c0051 a0003c0062 a0003c0071 a0004c0029 a0008c0006 a0008c0034 a0009c0005 a0009c0055 a0012c0009 a0013c0028 a0016c0020 a0016c0053 a0018c0033 a0021c0030 a0027c0041 a0029c0085 a0030c0043 a0032c0079 a0033c0077 a0034c0078 a0043c0046 a0044c0052 a0045c0050 a0046c0054 a0047c0048 a0048c0047 a0049c0057 a0050c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0021 a0001c0001t0024 a0001c0056t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0016 a0002c0002t0022 a0002c0049t0003 a0002c0051t0007 a0003c0062t0004 a0003c0071t0004 a0004c0029t0002 a0004c0029t0004 a0008c0006t0001 a0008c0006t0003 a0008c0006t0004 a0008c0006t0007 a0008c0006t0027 a0008c0034t0001 a0008c0034t0004 a0009c0005t0001 a0009c0005t0002 a0009c0005t0004 a0009c0005t0006 a0009c0005t0008 a0009c0005t0011 a0009c0055t0001 a0012c0009t0003 a0012c0009t0005 a0013c0028t0004 a0013c0028t0011 a0016c0020t0001 a0016c0020t0008 a0016c0053t0008 a0018c0033t0001 a0018c0033t0025 a0021c0030t0001 a0021c0030t0004 a0027c0041t0001 a0029c0085t0007 a0030c0043t0003 a0032c0079t0003 a0033c0077t0001 a0034c0078t0004 a0043c0046t0003 a0044c0052t0005 a0045c0050t0005 a0046c0054t0002 a0047c0048t0003 a0048c0047t0019 a0049c0057t0004 a0050c0045t0002	a0001c0001t0001g0011 a0001c0001t0001g0114 a0001c0001t0001g0121 others(121): Show a0001c0001t0001g0011 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0002g0056 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0087 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0163 a0001c0001t0004g0003 a0001c0001t0004g0207 a0001c0001t0005g0061 a0001c0001t0007g0090 a0001c0001t0010g0255 a0001c0001t0021g0019 a0001c0001t0024g0140 a0001c0056t0002g0059 a0002c0002t0001g0013 a0002c0002t0001g0095 a0002c0002t0001g0124 a0002c0002t0001g0166 a0002c0002t0002g0041 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0084 a0002c0002t0003g0004 a0002c0002t0003g0108 a0002c0002t0003g0116 a0002c0002t0003g0134 a0002c0002t0003g0149 a0002c0002t0003g0158 a0002c0002t0003g0162 a0002c0002t0003g0171 a0002c0002t0003g0186 a0002c0002t0004g0202 a0002c0002t0004g0219 a0002c0002t0004g0220 a0002c0002t0005g0042 a0002c0002t0005g0070 a0002c0002t0005g0076 a0002c0002t0005g0100 a0002c0002t0007g0201 a0002c0002t0007g0228 a0002c0002t0016g0050 a0002c0002t0022g0165 a0002c0049t0003g0189 a0002c0051t0007g0238 a0003c0062t0004g0216 a0003c0071t0004g0200 a0004c0029t0002g0036 a0004c0029t0004g0236 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 a0012c0009t0003g0136 a0012c0009t0003g0147 a0012c0009t0003g0159 a0012c0009t0003g0170 a0012c0009t0005g0054 a0012c0009t0005g0063 a0012c0009t0005g0104 a0012c0009t0005g0106 a0013c0028t0004g0199 a0013c0028t0011g0244 a0016c0020t0001g0144 a0016c0020t0008g0145 a0016c0053t0008g0161 a0018c0033t0001g0193 a0018c0033t0025g0192 a0021c0030t0001g0156 a0021c0030t0004g0103 a0027c0041t0001g0021 a0029c0085t0007g0239 a0030c0043t0003g0143 a0032c0079t0003g0160 a0033c0077t0001g0148 a0034c0078t0004g0212 a0043c0046t0003g0024 a0044c0052t0005g0060 a0045c0050t0005g0067 a0046c0054t0002g0055 a0047c0048t0003g0120 a0048c0047t0019g0099 a0049c0057t0004g0091 a0050c0045t0002g0069	124	264	0.4697	0	c.184 others(6): Show c.1844-5T>C		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	5/36				chr3	TogoVar
COL6A6_chr3_130512177_130682042	130571397	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02257.hp1	a0006 a0006	a0006c0063 a0006c0063	a0006c0063t0023 a0006c0063t0023	a0006c0063t0023g0168 a0006c0063t0023g0168	1	264	0.0038	0	c.297 others(6): Show c.2977+4A>T		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	7/36				chr3	TogoVar
COL6A6_chr3_130512177_130682042	130591037	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03831.hp1 HG03831.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0009 a0007c0018t0009	a0007c0018t0009g0257 a0007c0018t0009g0257	1	264	0.0038	0	c.421 others(6): Show c.4219-4C>T		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36				chr3	TogoVar
COL6A6_chr3_130512177_130682042	130598428	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02622.hp1 HG02622.hp2 HG03098.hp2 HG02622.hp1 HG02622.hp2 HG03098.hp2	a0024 a0028 a0024 a0028	a0024c0031 a0028c0042 a0024c0031 a0028c0042	a0024c0031t0003 a0024c0031t0012 a0028c0042t0003 a0024c0031t0003 a0024c0031t0012 a0028c0042t0003	a0024c0031t0003g0016 a0024c0031t0012g0025 a0028c0042t0003g0118 a0024c0031t0003g0016 a0024c0031t0012g0025 a0028c0042t0003g0118	3	264	0.0114	0	c.459 others(4): Show c.4597C>A	p.Gln others(7): Show p.Gln1533Lys	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	19/37	4849/8689	4597/6792	1533/2263	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130598430	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02738.hp2 HG02738.hp2	a0006 a0006	a0006c0067 a0006c0067	a0006c0067t0029 a0006c0067t0029	a0006c0067t0029g0259 a0006c0067t0029g0259	1	264	0.0038	0	c.459 others(4): Show c.4599A>G	p.Gln others(7): Show p.Gln1533Gln	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	19/37	4851/8689	4599/6792	1533/2263	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130598438	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2	a0018 a0033 a0018 a0033	a0018c0033 a0033c0077 a0018c0033 a0033c0077	a0018c0033t0001 a0018c0033t0025 a0033c0077t0001 a0018c0033t0001 a0018c0033t0025 a0033c0077t0001	a0018c0033t0001g0193 a0018c0033t0025g0192 a0033c0077t0001g0148 a0018c0033t0001g0193 a0018c0033t0025g0192 a0033c0077t0001g0148	3	264	0.0114	0	c.459 others(6): Show c.4599+8C>T		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	19/36				chr3	TogoVar
COL6A6_chr3_130512177_130682042	130675202	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0070 a0003c0070	a0003c0070t0002 a0003c0070t0002	a0003c0070t0002g0035 a0003c0070t0002g0035	1	264	0.0038	0	c.659 others(4): Show c.6597C>T	p.Ser others(7): Show p.Ser2199Ser	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	37/37	6849/8689	6597/6792	2199/2263	chr3	TogoVar
COL7A1_chr3_48559073_48600329	48565199	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03225.hp1 HG03225.hp1	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0001 a0018c0020t0001	a0018c0020t0001g0045 a0018c0020t0001g0045	1	236	0.0042	0	c.853 others(4): Show c.8530C>T	p.Arg others(7): Show p.Arg2844Trp	COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	117/119	8593/9231	8530/8835	2844/2944	chr3	TogoVar
COL7A1_chr3_48559073_48600329	48567194	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp2 NA19030.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0049 a0014c0021t0001g0049	1	236	0.0042	0	c.804 others(6): Show c.8047-4C>T		COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	109/118				chr3	TogoVar
COL7A1_chr3_48559073_48600329	48567642	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp2 HG00609.hp1 HG01884.hp1 others(32): Show HG00544.hp2 HG00609.hp1 HG01884.hp1 HG01884.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02155.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp2 HG02895.hp2 HG02896.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03540.hp2 NA18747.hp1 NA18943.hp1 NA18946.hp2 NA18951.hp1 NA18954.hp1 NA18979.hp1 NA19000.hp2 NA19012.hp2 NA19065.hp2 NA19070.hp2 NA19079.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA20752.hp1	a0001 a0009 a0011 others(1): Show a0001 a0009 a0011 a0018	a0001c0001 a0001c0022 a0001c0028 others(4): Show a0001c0001 a0001c0022 a0001c0028 a0001c0029 a0009c0008 a0011c0024 a0018c0020	a0001c0001t0001 a0001c0022t0001 a0001c0028t0001 others(4): Show a0001c0001t0001 a0001c0022t0001 a0001c0028t0001 a0001c0029t0001 a0009c0008t0001 a0011c0024t0001 a0018c0020t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0022t0001g0044 a0001c0028t0001g0102 a0001c0029t0001g0105 a0009c0008t0001g0031 a0011c0024t0001g0089 a0018c0020t0001g0045	35	236	0.1483	-1	c.798 others(7): Show c.7984-7delT		COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	108/118				chr3	TogoVar
COL7A1_chr3_48559073_48600329	48568861	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	236	0.0042	0	c.768 others(6): Show c.7687-6C>T		COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	103/118				chr3	TogoVar
COL7A1_chr3_48559073_48600329	48570971	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	236	0.0042	0	c.716 others(6): Show c.7165-3C>T		COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	94/118				chr3	TogoVar
COL7A1_chr3_48559073_48600329	48575060	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	236	0.0042	0	c.627 others(6): Show c.6279+4A>T		COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	76/118				chr3	TogoVar
COL7A1_chr3_48559073_48600329	48575132	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02257.hp2 HG02451.hp1 others(1): Show HG02145.hp2 HG02257.hp2 HG02451.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	4	236	0.0170	0	c.621 others(6): Show c.6217-6C>T		COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	75/118				chr3	TogoVar
COL7A1_chr3_48559073_48600329	48579820	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	236	0.0042	0	c.512 others(6): Show c.5125-6C>T		COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	57/118				chr3	TogoVar
COL7A1_chr3_48559073_48600329	48581943	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0019 a0019	a0019c0015 a0019c0015	a0019c0015t0001 a0019c0015t0001	a0019c0015t0001g0063 a0019c0015t0001g0063	1	236	0.0042	0	c.463 others(4): Show c.4636G>C	p.Gly others(7): Show p.Gly1546Arg	COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	48/119	4699/9231	4636/8835	1546/2944	chr3	TogoVar
COL7A1_chr3_48559073_48600329	48584486	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0062 a0013c0013t0001g0062	1	236	0.0042	0	c.411 others(4): Show c.4118C>T	p.Ser others(7): Show p.Ser1373Leu	COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	36/119	4181/9231	4118/8835	1373/2944	chr3	TogoVar
COL7A1_chr3_48559073_48600329	48585691	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00642.hp1 HG02145.hp1 HG00642.hp1 HG02145.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0069 a0005c0006t0001g0113 a0005c0006t0001g0069 a0005c0006t0001g0113	2	236	0.0085	0	c.383 others(4): Show c.3830C>T	p.Pro others(7): Show p.Pro1277Leu	COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	31/119	3893/9231	3830/8835	1277/2944	chr3	TogoVar
COL7A1_chr3_48559073_48600329	48589596	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	236	0.0042	0	c.217 others(6): Show c.2170+3G>A		COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	17/118				chr3	TogoVar
COL7A1_chr3_48559073_48600329	48592946	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0105 a0001c0029t0001g0105	1	236	0.0042	0	c.683 others(5): Show c.683-8A>G		COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	6/118				chr3	TogoVar
COL9A1_chr6_70211126_70308084	70226014	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0303 a0002c0002t0001g0303	1	362	0.0028	0	c.250 others(6): Show c.2504-5T>C		COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37				chr6	TogoVar
COL9A1_chr6_70211126_70308084	70234787	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0012 a0008c0023t0012	a0008c0023t0012g0329 a0008c0023t0012g0329	1	362	0.0028	0	c.225 others(6): Show c.2259+7G>T		COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	34/37				chr6	TogoVar
COL9A1_chr6_70211126_70308084	70266774	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0006 a0002c0018t0006	a0002c0018t0006g0343 a0002c0018t0006g0343	1	362	0.0028	0	c.128 others(6): Show c.1288-4T>A		COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	17/37				chr6	TogoVar
COL9A1_chr6_70211126_70308084	70272091	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(33): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG01123.hp1 HG01255.hp2 HG01952.hp2 HG01978.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02615.hp1 HG03139.hp1 HG03225.hp1 HG04228.hp1 NA18940.hp2 NA18946.hp1 NA18949.hp2 NA18965.hp1 NA18967.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA19005.hp2 NA19057.hp2 NA19066.hp2 NA21309.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0012 a0004c0007 others(4): Show a0001c0001 a0001c0012 a0004c0007 a0004c0009 a0005c0005 a0005c0028 a0006c0011	a0001c0001t0002 a0001c0001t0003 a0001c0012t0001 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0012t0001 a0004c0007t0001 a0004c0007t0006 a0004c0007t0007 a0004c0009t0001 a0004c0009t0002 a0005c0005t0002 a0005c0028t0002 a0006c0011t0004	a0001c0001t0002g0019 a0001c0001t0002g0318 a0001c0001t0002g0327 others(33): Show a0001c0001t0002g0019 a0001c0001t0002g0318 a0001c0001t0002g0327 a0001c0001t0003g0012 a0001c0012t0001g0233 a0004c0007t0001g0014 a0004c0007t0001g0017 a0004c0007t0001g0018 a0004c0007t0001g0021 a0004c0007t0001g0023 a0004c0007t0001g0028 a0004c0007t0001g0088 a0004c0007t0001g0128 a0004c0007t0001g0196 a0004c0007t0001g0256 a0004c0007t0001g0308 a0004c0007t0006g0346 a0004c0007t0006g0347 a0004c0007t0007g0331 a0004c0007t0007g0348 a0004c0009t0001g0097 a0004c0009t0001g0211 a0004c0009t0001g0234 a0004c0009t0001g0239 a0004c0009t0001g0315 a0004c0009t0001g0316 a0004c0009t0001g0319 a0004c0009t0001g0320 a0004c0009t0001g0321 a0004c0009t0001g0322 a0004c0009t0001g0323 a0004c0009t0001g0325 a0004c0009t0002g0237 a0005c0005t0002g0015 a0005c0028t0002g0324 a0006c0011t0004g0259	36	362	0.0995	0	c.106 others(6): Show c.1066-3T>C		COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	12/37				chr6	TogoVar
COL9A1_chr6_70211126_70308084	70281384	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0250 a0003c0003t0010g0250	1	362	0.0028	0	c.876 others(5): Show c.876+6T>C		COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	8/37				chr6	TogoVar
COL9A2_chr1_40295489_40322286	40302811	T T	TGGAG TGGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp1 HG02717.hp2 HG02735.hp2 others(19): Show HG01496.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG04199.hp2 NA18944.hp1 NA18952.hp1 NA18975.hp2 NA18977.hp2 NA18985.hp1 NA18986.hp1 NA19002.hp1 NA19057.hp1 NA19064.hp2 NA19084.hp1 NA20805.hp1 NA20905.hp1	a0002 a0005 a0018 a0002 a0005 a0018	a0002c0002 a0005c0004 a0018c0023 a0002c0002 a0005c0004 a0018c0023	a0002c0002t0001 a0005c0004t0002 a0018c0023t0002 a0002c0002t0001 a0005c0004t0002 a0018c0023t0002	a0002c0002t0001g0098 a0005c0004t0002g0012 a0005c0004t0002g0038 others(10): Show a0002c0002t0001g0098 a0005c0004t0002g0012 a0005c0004t0002g0038 a0005c0004t0002g0039 a0005c0004t0002g0040 a0005c0004t0002g0054 a0005c0004t0002g0066 a0005c0004t0002g0067 a0005c0004t0002g0068 a0005c0004t0002g0069 a0005c0004t0002g0073 a0005c0004t0002g0169 a0018c0023t0002g0072	22	438	0.0502	4	c.160 others(17): Show c.1604-6_1604-3dupCTCC		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding	29/31				chr1	TogoVar
COL9A2_chr1_40295489_40322286	40302811	TGGAGGGA others(1): Show TGGAGGGAG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp2 HG01243.hp2 HG01884.hp2 others(15): Show HG01069.hp2 HG01243.hp2 HG01884.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02622.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG03195.hp1 HG03471.hp1 HG03579.hp2 NA18522.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp2	a0002 a0005 a0010 others(1): Show a0002 a0005 a0010 a0011	a0002c0002 a0005c0004 a0010c0011 others(1): Show a0002c0002 a0005c0004 a0010c0011 a0011c0014	a0002c0002t0004 a0005c0004t0001 a0005c0004t0003 others(2): Show a0002c0002t0004 a0005c0004t0001 a0005c0004t0003 a0010c0011t0003 a0011c0014t0003	a0002c0002t0004g0026 a0002c0002t0004g0099 a0005c0004t0001g0097 others(8): Show a0002c0002t0004g0026 a0002c0002t0004g0099 a0005c0004t0001g0097 a0005c0004t0003g0018 a0005c0004t0003g0043 a0005c0004t0003g0081 a0005c0004t0003g0082 a0005c0004t0003g0088 a0005c0004t0003g0091 a0010c0011t0003g0044 a0011c0014t0003g0077	18	438	0.0411	-8	c.160 others(22): Show c.1604-10_1604-3delCTCCCTCC		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding	29/31				chr1	TogoVar
COL9A2_chr1_40295489_40322286	40305771	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02129.hp2 HG02129.hp2	a0020 a0020	a0020c0025 a0020c0025	a0020c0025t0001 a0020c0025t0001	a0020c0025t0001g0126 a0020c0025t0001g0126	1	438	0.0023	0	c.105 others(6): Show c.1054-3C>T		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding	20/31				chr1	TogoVar
COL9A2_chr1_40295489_40322286	40306136	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02109.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0097 a0005c0004t0001g0097	1	438	0.0023	0	c.105 others(6): Show c.1053+7C>T		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding	20/31				chr1	TogoVar
COL9A2_chr1_40295489_40322286	40307447	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0003 a0010c0011t0003	a0010c0011t0003g0044 a0010c0011t0003g0044	2	438	0.0046	0	c.100 others(4): Show c.1007C>A	p.Ala others(6): Show p.Ala336Glu	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding	19/32	1096/2852	1007/2070	336/689	chr1	TogoVar
COL9A2_chr1_40295489_40322286	40307503	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp1 HG02735.hp2 HG02738.hp2 others(15): Show HG01496.hp1 HG02735.hp2 HG02738.hp2 HG03491.hp2 HG03492.hp1 HG04199.hp2 NA18944.hp1 NA18952.hp1 NA18975.hp2 NA18977.hp2 NA18985.hp1 NA18986.hp1 NA19002.hp1 NA19057.hp1 NA19064.hp2 NA19084.hp1 NA20805.hp1 NA20905.hp1	a0005 a0018 a0005 a0018	a0005c0004 a0018c0023 a0005c0004 a0018c0023	a0005c0004t0002 a0018c0023t0002 a0005c0004t0002 a0018c0023t0002	a0005c0004t0002g0012 a0005c0004t0002g0038 a0005c0004t0002g0040 others(7): Show a0005c0004t0002g0012 a0005c0004t0002g0038 a0005c0004t0002g0040 a0005c0004t0002g0054 a0005c0004t0002g0066 a0005c0004t0002g0067 a0005c0004t0002g0068 a0005c0004t0002g0073 a0005c0004t0002g0169 a0018c0023t0002g0072	18	438	0.0411	0	c.955 others(5): Show c.955-4C>G		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding	18/31				chr1	TogoVar
COL9A2_chr1_40295489_40322286	40310265	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp1 HG01981.hp1 homoSapiens_chm13v2.hp1 HG00280.hp1 HG01981.hp1 homoSapiens_chm13v2.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0028 a0007c0009t0001g0028	3	438	0.0069	0	c.737 others(3): Show c.737C>T	p.Thr others(6): Show p.Thr246Met	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding	14/32	826/2852	737/2070	246/689	chr1	TogoVar
COL9A2_chr1_40295489_40322286	40312120	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00438.hp2 HG00558.hp2 others(33): Show HG00423.hp2 HG00438.hp2 HG00558.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01433.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG02027.hp2 HG02055.hp1 HG02273.hp1 HG02818.hp2 HG02976.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03669.hp1 HG04228.hp1 NA18955.hp1 NA18959.hp1 NA18968.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18993.hp1 NA18999.hp1 NA19000.hp1 NA19009.hp2 NA19065.hp1 NA19086.hp1 NA19089.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0002c0002 a0003c0005 others(2): Show a0001c0001 a0002c0002 a0003c0005 a0003c0028 a0012c0030	a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 a0003c0028t0001 a0012c0030t0001	a0001c0001t0001g0107 a0002c0002t0001g0047 a0002c0002t0001g0102 others(17): Show a0001c0001t0001g0107 a0002c0002t0001g0047 a0002c0002t0001g0102 a0002c0002t0001g0106 a0002c0002t0001g0112 a0003c0005t0001g0004 a0003c0005t0001g0045 a0003c0005t0001g0046 a0003c0005t0001g0075 a0003c0005t0001g0076 a0003c0005t0001g0100 a0003c0005t0001g0101 a0003c0005t0001g0103 a0003c0005t0001g0105 a0003c0005t0001g0108 a0003c0005t0001g0109 a0003c0005t0001g0110 a0003c0005t0001g0113 a0003c0028t0001g0104 a0012c0030t0001g0111	36	438	0.0822	0	c.364 others(5): Show c.364-8C>T		COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding	7/31				chr1	TogoVar
COL9A3_chr20_62812050_62846159	62817560	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0039 a0001c0013t0002g0039	1	412	0.0024	0	c.79- others(4): Show c.79-7G>A		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	1/31				chr20	TogoVar
COL9A3_chr20_62812050_62846159	62819980	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01346.hp2 HG01361.hp1 HG01515.hp2 others(1): Show HG01346.hp2 HG01361.hp1 HG01515.hp2 homoSapiens_chm13v2.hp1	a0007 a0007	a0007c0018 a0007c0033 a0007c0018 a0007c0033	a0007c0018t0001 a0007c0018t0003 a0007c0033t0001 a0007c0018t0001 a0007c0018t0003 a0007c0033t0001	a0007c0018t0001g0100 a0007c0018t0003g0014 a0007c0033t0001g0098 a0007c0018t0001g0100 a0007c0018t0003g0014 a0007c0033t0001g0098	4	412	0.0097	0	c.307 others(3): Show c.307C>T	p.Arg others(6): Show p.Arg103Trp	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	5/32	322/2497	307/2055	103/684	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62819981	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03654.hp2 NA18985.hp1 NA18994.hp2 others(2): Show HG03654.hp2 NA18985.hp1 NA18994.hp2 NA19004.hp2 NA19068.hp2	a0008 a0017 a0008 a0017	a0008c0019 a0008c0044 a0017c0043 a0008c0019 a0008c0044 a0017c0043	a0008c0019t0001 a0008c0044t0002 a0017c0043t0003 a0008c0019t0001 a0008c0044t0002 a0017c0043t0003	a0008c0019t0001g0353 a0008c0019t0001g0354 a0008c0019t0001g0356 others(2): Show a0008c0019t0001g0353 a0008c0019t0001g0354 a0008c0019t0001g0356 a0008c0044t0002g0355 a0017c0043t0003g0357	5	412	0.0121	0	c.308 others(3): Show c.308G>A	p.Arg others(6): Show p.Arg103Gln	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	5/32	323/2497	308/2055	103/684	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62822162	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02895.hp2 HG02895.hp2	a0028 a0028	a0028c0062 a0028c0062	a0028c0062t0005 a0028c0062t0005	a0028c0062t0005g0086 a0028c0062t0005g0086	1	412	0.0024	0	c.475 others(3): Show c.475C>T	p.Pro others(6): Show p.Pro159Ser	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	9/32	490/2497	475/2055	159/684	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62824439	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03654.hp2 NA18985.hp1 NA18994.hp2 others(2): Show HG03654.hp2 NA18985.hp1 NA18994.hp2 NA19004.hp2 NA19068.hp2	a0008 a0017 a0008 a0017	a0008c0019 a0008c0044 a0017c0043 a0008c0019 a0008c0044 a0017c0043	a0008c0019t0001 a0008c0044t0002 a0017c0043t0003 a0008c0019t0001 a0008c0044t0002 a0017c0043t0003	a0008c0019t0001g0353 a0008c0019t0001g0354 a0008c0019t0001g0356 others(2): Show a0008c0019t0001g0353 a0008c0019t0001g0354 a0008c0019t0001g0356 a0008c0044t0002g0355 a0017c0043t0003g0357	5	412	0.0121	0	c.520 others(5): Show c.520-6C>T		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	10/31				chr20	TogoVar
COL9A3_chr20_62812050_62846159	62826200	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02280.hp2 HG02622.hp1 others(11): Show HG02258.hp1 HG02280.hp2 HG02622.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 NA19240.hp2	a0003 a0028 a0003 a0028	a0003c0009 a0003c0022 a0003c0025 others(1): Show a0003c0009 a0003c0022 a0003c0025 a0028c0062	a0003c0009t0001 a0003c0009t0005 a0003c0022t0003 others(3): Show a0003c0009t0001 a0003c0009t0005 a0003c0022t0003 a0003c0022t0004 a0003c0025t0005 a0028c0062t0005	a0003c0009t0001g0013 a0003c0009t0001g0081 a0003c0009t0001g0082 others(10): Show a0003c0009t0001g0013 a0003c0009t0001g0081 a0003c0009t0001g0082 a0003c0009t0001g0083 a0003c0009t0001g0084 a0003c0009t0001g0085 a0003c0009t0001g0087 a0003c0009t0001g0088 a0003c0009t0005g0159 a0003c0022t0003g0079 a0003c0022t0004g0097 a0003c0025t0005g0062 a0028c0062t0005g0086	14	412	0.0340	0	c.685 others(5): Show c.685-4G>T		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	13/31				chr20	TogoVar
COL9A3_chr20_62812050_62846159	62826819	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02148.hp2 HG02630.hp1 HG02148.hp2 HG02630.hp1	a0011 a0011	a0011c0054 a0011c0055 a0011c0054 a0011c0055	a0011c0054t0001 a0011c0055t0001 a0011c0054t0001 a0011c0055t0001	a0011c0054t0001g0093 a0011c0055t0001g0158 a0011c0054t0001g0093 a0011c0055t0001g0158	2	412	0.0049	0	c.791 others(3): Show c.791C>T	p.Ala others(6): Show p.Ala264Val	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	15/32	806/2497	791/2055	264/684	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62832149	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00609.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18957.hp1 NA18960.hp1 NA18966.hp1 NA18966.hp2 NA18975.hp1 NA18985.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19004.hp2 NA19011.hp2 NA19043.hp2 NA19060.hp1 NA19068.hp2 NA19079.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0007 a0008 a0011 a0014 a0015 a0017 a0022 a0024 a0025 a0026 a0028	a0001c0001 a0001c0002 a0001c0004 others(34): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0001c0047 a0001c0056 a0002c0008 a0002c0015 a0002c0020 a0002c0021 a0002c0023 a0002c0036 a0002c0048 a0002c0049 a0002c0050 a0003c0009 a0003c0022 a0003c0025 a0004c0014 a0004c0016 a0004c0017 a0004c0030 a0007c0018 a0007c0033 a0008c0019 a0008c0044 a0011c0054 a0011c0055 a0014c0031 a0015c0034 a0017c0043 a0022c0035 a0024c0046 a0025c0068 a0026c0060 a0028c0062	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(44): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0010t0002 a0001c0010t0004 a0001c0047t0001 a0001c0056t0001 a0002c0008t0001 a0002c0008t0006 a0002c0015t0001 a0002c0020t0001 a0002c0021t0002 a0002c0021t0003 a0002c0021t0004 a0002c0023t0001 a0002c0036t0004 a0002c0048t0005 a0002c0049t0002 a0002c0050t0001 a0003c0009t0001 a0003c0009t0005 a0003c0022t0002 a0003c0022t0003 a0003c0022t0004 a0003c0025t0001 a0003c0025t0005 a0004c0014t0001 a0004c0016t0001 a0004c0017t0001 a0004c0030t0001 a0007c0018t0001 a0007c0018t0003 a0007c0033t0001 a0008c0019t0001 a0008c0044t0002 a0011c0054t0001 a0011c0055t0001 a0014c0031t0002 a0015c0034t0009 a0017c0043t0003 a0022c0035t0001 a0024c0046t0001 a0025c0068t0001 a0026c0060t0002 a0028c0062t0005	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0025 others(97): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0264 a0001c0001t0003g0027 a0001c0001t0003g0240 a0001c0002t0001g0236 a0001c0002t0001g0239 a0001c0002t0001g0265 a0001c0004t0001g0041 a0001c0004t0001g0262 a0001c0005t0001g0042 a0001c0005t0001g0059 a0001c0010t0002g0136 a0001c0010t0002g0263 a0001c0010t0004g0246 a0001c0010t0004g0267 a0001c0047t0001g0026 a0001c0056t0001g0241 a0002c0008t0001g0105 a0002c0008t0001g0142 a0002c0008t0001g0144 a0002c0008t0001g0149 a0002c0008t0001g0151 a0002c0008t0001g0338 a0002c0008t0001g0339 a0002c0008t0001g0343 a0002c0008t0001g0345 a0002c0008t0001g0346 a0002c0008t0006g0146 a0002c0008t0006g0344 a0002c0015t0001g0004 a0002c0015t0001g0154 a0002c0020t0001g0090 a0002c0020t0001g0099 a0002c0020t0001g0350 a0002c0021t0002g0342 a0002c0021t0003g0143 a0002c0021t0004g0340 a0002c0023t0001g0148 a0002c0023t0001g0150 a0002c0036t0004g0092 a0002c0048t0005g0341 a0002c0049t0002g0145 a0002c0050t0001g0147 a0003c0009t0001g0013 a0003c0009t0001g0081 a0003c0009t0001g0082 a0003c0009t0001g0083 a0003c0009t0001g0084 a0003c0009t0001g0085 a0003c0009t0001g0087 a0003c0009t0001g0088 a0003c0009t0001g0094 a0003c0009t0001g0095 a0003c0009t0005g0159 a0003c0022t0002g0096 a0003c0022t0003g0079 a0003c0022t0004g0097 a0003c0025t0001g0138 a0003c0025t0005g0062 a0004c0014t0001g0015 a0004c0014t0001g0104 a0004c0014t0001g0106 a0004c0014t0001g0107 a0004c0016t0001g0036 a0004c0016t0001g0037 a0004c0016t0001g0038 a0004c0016t0001g0102 a0004c0017t0001g0016 a0004c0017t0001g0101 a0004c0030t0001g0035 a0007c0018t0001g0100 a0007c0018t0003g0014 a0007c0033t0001g0098 a0008c0019t0001g0353 a0008c0019t0001g0354 a0008c0019t0001g0356 a0008c0044t0002g0355 a0011c0054t0001g0093 a0011c0055t0001g0158 a0014c0031t0002g0103 a0015c0034t0009g0269 a0017c0043t0003g0357 a0022c0035t0001g0091 a0024c0046t0001g0238 a0025c0068t0001g0337 a0026c0060t0002g0139 a0028c0062t0005g0086	114	412	0.2767	0	c.128 others(6): Show c.1288-5T>C		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31				chr20	TogoVar
COL9A3_chr20_62812050_62846159	62836181	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0131 a0001c0005t0001g0131	1	412	0.0024	0	c.140 others(6): Show c.1402-6C>T		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	27/31				chr20	TogoVar
COL9A3_chr20_62812050_62846159	62836474	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 HG03486.hp1 NA18522.hp2 HG02486.hp1 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0176 a0001c0001t0001g0020 a0001c0001t0001g0176	3	412	0.0073	0	c.154 others(6): Show c.1549-4C>A		COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	28/31				chr20	TogoVar
COLEC10_chr8_119062247_119113455	119102406	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02258.hp1 HG02647.hp1 others(8): Show HG02145.hp1 HG02258.hp1 HG02647.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03516.hp1 HG03540.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0021 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0021 a0001c0001t0022	a0001c0001t0007g0010 a0001c0001t0007g0063 a0001c0001t0007g0201 others(7): Show a0001c0001t0007g0010 a0001c0001t0007g0063 a0001c0001t0007g0201 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0229 a0001c0001t0007g0234 a0001c0001t0008g0074 a0001c0001t0021g0367 a0001c0001t0022g0262	11	388	0.0284	0	c.346 others(5): Show c.346+5G>A		COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	4/5				chr8	TogoVar
COLEC11_chr2_3590112_3649644	3595166	C C	T T	splice_region_variant splice_region_variant	LOW	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	378	0.0027	0	c.-29 others(3): Show c.-29C>T		COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	1/7				chr2	TogoVar
COLEC12_chr18_311737_505701	316739	G G	A A	splice_region_variant splice_region_variant	LOW	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0210 a0002c0001t0210	a0002c0001t0210g0012 a0002c0001t0210g0012	1	366	0.0027	0	c.33 others(5): Show c.3306C>T		COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	10/10				chr18	TogoVar
COLEC12_chr18_311737_505701	334738	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0265 a0001c0003t0027g0265	1	366	0.0027	0	c.181 others(6): Show c.1816+4A>G		COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	6/9				chr18	TogoVar

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