Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
COQ8B_chr19_40686530_40721886	40700303	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(219): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19067.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0010 a0011 a0013	a0001c0002 a0001c0003 a0001c0004 others(19): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0002c0001 a0002c0023 a0002c0024 a0002c0025 a0003c0010 a0005c0011 a0007c0015 a0008c0017 a0009c0016 a0010c0013 a0011c0021 a0013c0027	a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 others(22): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0012t0001 a0001c0014t0001 a0001c0018t0003 a0001c0019t0001 a0001c0020t0001 a0002c0001t0001 a0002c0023t0001 a0002c0024t0001 a0002c0025t0001 a0003c0010t0001 a0005c0011t0001 a0007c0015t0001 a0008c0017t0001 a0009c0016t0001 a0010c0013t0001 a0011c0021t0001 a0013c0027t0005	a0001c0002t0001g0004 a0001c0002t0001g0014 a0001c0002t0001g0036 others(199): Show a0001c0002t0001g0004 a0001c0002t0001g0014 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0201 a0001c0002t0001g0218 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0004g0238 a0001c0002t0004g0343 a0001c0002t0004g0344 a0001c0002t0004g0345 a0001c0002t0006g0294 a0001c0002t0007g0056 a0001c0003t0001g0003 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0046 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0174 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0001g0331 a0001c0004t0001g0241 a0001c0004t0001g0243 a0001c0004t0001g0245 a0001c0004t0001g0246 a0001c0004t0001g0247 a0001c0004t0001g0248 a0001c0004t0001g0249 a0001c0004t0001g0250 a0001c0004t0001g0251 a0001c0004t0001g0252 a0001c0004t0001g0253 a0001c0004t0001g0254 a0001c0004t0001g0255 a0001c0004t0001g0256 a0001c0004t0001g0257 a0001c0004t0001g0258 a0001c0004t0001g0259 a0001c0004t0001g0260 a0001c0004t0001g0261 a0001c0004t0001g0262 a0001c0004t0001g0264 a0001c0004t0001g0265 a0001c0004t0001g0266 a0001c0004t0001g0267 a0001c0004t0001g0268 a0001c0004t0001g0278 a0001c0005t0001g0047 a0001c0005t0001g0048 a0001c0005t0001g0049 a0001c0005t0001g0077 a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0005t0001g0082 a0001c0005t0001g0304 a0001c0007t0001g0032 a0001c0007t0001g0242 a0001c0007t0001g0263 a0001c0012t0001g0061 a0001c0014t0001g0193 a0001c0018t0003g0228 a0001c0019t0001g0332 a0001c0020t0001g0233 a0002c0001t0001g0131 a0002c0001t0001g0346 a0002c0001t0001g0347 a0002c0001t0001g0348 a0002c0001t0001g0349 a0002c0001t0001g0350 a0002c0023t0001g0063 a0002c0024t0001g0351 a0002c0025t0001g0052 a0003c0010t0001g0045 a0003c0010t0001g0053 a0003c0010t0001g0054 a0005c0011t0001g0167 a0007c0015t0001g0188 a0008c0017t0001g0222 a0009c0016t0001g0197 a0010c0013t0001g0175 a0011c0021t0001g0200 a0013c0027t0005g0039	222	410	0.5415	0	c.103 others(6): Show c.1035+7T>C		COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	11/14					chr19	TogoVar
COQ8B_chr19_40686530_40721886	40702698	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp1 HG03453.hp1 HG02723.hp1 HG03453.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0229 a0002c0008t0001g0279 a0002c0008t0001g0229 a0002c0008t0001g0279	2	410	0.0049	0	c.800 others(5): Show c.800-5C>G		COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	9/14					chr19	TogoVar
COQ8B_chr19_40686530_40721886	40703630	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp1 HG03098.hp2 HG03209.hp2 others(3): Show HG02622.hp1 HG03098.hp2 HG03209.hp2 HG03579.hp1 NA19043.hp1 NA20300.hp2	a0002 a0002	a0002c0001 a0002c0024 a0002c0001 a0002c0024	a0002c0001t0001 a0002c0024t0001 a0002c0001t0001 a0002c0024t0001	a0002c0001t0001g0346 a0002c0001t0001g0347 a0002c0001t0001g0348 others(3): Show a0002c0001t0001g0346 a0002c0001t0001g0347 a0002c0001t0001g0348 a0002c0001t0001g0349 a0002c0001t0001g0350 a0002c0024t0001g0351	6	410	0.0146	0	c.718 others(5): Show c.718-8C>G		COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	8/14					chr19	TogoVar
COQ9_chr16_57442479_57466270	57456933	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02602.hp2 HG02602.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0001 a0005c0008t0001g0001	1	404	0.0025	0	c.524 others(3): Show c.524A>G	p.Lys others(6): Show p.Lys175Arg	COQ9	ENSG00000088682.14	transcript	ENST00000262507.11	protein_coding	5/9	551/1630	524/957	175/318		chr16	TogoVar
CORIN_chr4_47589001_47843067	47600350	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0099 a0001c0001t0010g0099	1	264	0.0038	0	c.281 others(6): Show c.2813-3C>T		CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	20/21					chr4	TogoVar
CORIN_chr4_47589001_47843067	47643260	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	264	0.0038	0	c.195 others(6): Show c.1958-4C>T		CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	14/21					chr4	TogoVar
CORIN_chr4_47589001_47843067	47763372	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02717.hp2 HG02922.hp1 others(2): Show HG01891.hp1 HG02717.hp2 HG02922.hp1 HG03453.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0021 a0002c0008 a0001c0001 a0001c0021 a0002c0008	a0001c0001t0001 a0001c0021t0001 a0002c0008t0001 a0001c0001t0001 a0001c0021t0001 a0002c0008t0001	a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0021t0001g0048 others(2): Show a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0021t0001g0048 a0002c0008t0001g0221 a0002c0008t0001g0222	5	264	0.0189	0	c.617 others(5): Show c.617+7C>T		CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	4/21					chr4	TogoVar
CORIN_chr4_47589001_47843067	47837887	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01109.hp1 HG01109.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0003 a0009c0014t0003	a0009c0014t0003g0004 a0009c0014t0003g0004	1	264	0.0038	0	c.63G others(2): Show c.63G>C	p.Pro others(5): Show p.Pro21Pro	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	1/22	181/4967	63/3129	21/1042		chr4	TogoVar
CORO1A_chr16_30178602_30194076	30188575	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0001 a0003c0006t0001g0001	1	342	0.0029	0	c.128 others(4): Show c.1280C>T	p.Ser others(6): Show p.Ser427Leu	CORO1A	ENSG00000102879.17	transcript	ENST00000219150.10	protein_coding	10/11	1405/1623	1280/1386	427/461		chr16	TogoVar
CORO1B_chr11_67430510_67448476	67438507	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(144): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG04184.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18953.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18975.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19082.hp2 NA19084.hp1 NA19088.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0002t0002 a0001c0002t0006 a0001c0005t0003 a0001c0012t0002 a0002c0004t0012	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0021 others(31): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0046 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0003g0002 a0001c0001t0003g0049 a0001c0001t0003g0059 a0001c0001t0003g0068 a0001c0001t0003g0075 a0001c0001t0007g0012 a0001c0001t0007g0030 a0001c0001t0010g0014 a0001c0001t0010g0063 a0001c0001t0023g0052 a0001c0001t0024g0076 a0001c0001t0025g0050 a0001c0001t0026g0053 a0001c0001t0027g0054 a0001c0001t0028g0055 a0001c0001t0029g0056 a0001c0002t0002g0027 a0001c0002t0006g0007 a0001c0002t0006g0077 a0001c0002t0006g0078 a0001c0005t0003g0018 a0001c0012t0002g0060 a0002c0004t0012g0017	147	354	0.4153	0	c.134 others(6): Show c.1345-6C>T		CORO1B	ENSG00000172725.14	transcript	ENST00000341356.10	protein_coding	10/10					chr11	TogoVar
CORO1B_chr11_67430510_67448476	67439841	A A	AACCTGGG others(24): Show AACCTGGGGATGCAAGGAGGAGCCACGGGTGG	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0004 a0007c0009t0004	a0007c0009t0004g0034 a0007c0009t0004g0034	1	354	0.0028	31	c.100 others(43): Show c.1008-29_1009dupCCACCCGTGGCTCCTCCTTGCATCCCCAGGT	p.Phe others(5): Show p.Phe337fs	CORO1B	ENSG00000172725.14	transcript	ENST00000341356.10	protein_coding	9/11	1084/4411	1009/1470	337/489		chr11	TogoVar
CORO1B_chr11_67430510_67448476	67441249	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	354	0.0028	0	c.637 others(5): Show c.637-5G>C		CORO1B	ENSG00000172725.14	transcript	ENST00000341356.10	protein_coding	5/10					chr11	TogoVar
CORO1C_chr12_108640109_108736518	108648607	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0134 a0003c0004t0014g0134	1	326	0.0031	0	c.130 others(4): Show c.1303G>A	p.Val others(6): Show p.Val435Met	CORO1C	ENSG00000110880.11	transcript	ENST00000261401.8	protein_coding	10/11	1398/3814	1303/1425	435/474		chr12	TogoVar
CORO2B_chr15_68573993_68732806	68715317	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(232): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.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 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0007 a0003c0006 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0003t0001 a0001c0003t0006 a0001c0003t0008 a0001c0003t0011 a0001c0003t0012 a0001c0004t0005 a0001c0004t0006 a0001c0004t0007 a0001c0005t0002 a0001c0005t0003 a0002c0007t0006 a0003c0006t0002 a0004c0008t0002	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0028 others(232): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0001g0243 a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0054 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0114 a0001c0001t0002g0119 a0001c0001t0002g0134 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0176 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0241 a0001c0001t0003g0036 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0123 a0001c0001t0003g0128 a0001c0001t0003g0137 a0001c0001t0003g0143 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0156 a0001c0001t0003g0160 a0001c0001t0003g0164 a0001c0001t0003g0174 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0183 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0235 a0001c0001t0003g0239 a0001c0001t0004g0017 a0001c0001t0004g0026 a0001c0001t0004g0058 a0001c0001t0004g0063 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0099 a0001c0001t0004g0103 a0001c0001t0004g0106 a0001c0001t0004g0133 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0142 a0001c0001t0004g0146 a0001c0001t0004g0154 a0001c0001t0004g0157 a0001c0001t0004g0205 a0001c0001t0004g0214 a0001c0001t0004g0220 a0001c0001t0004g0240 a0001c0001t0005g0007 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0015 a0001c0001t0005g0018 a0001c0001t0005g0029 a0001c0001t0005g0035 a0001c0001t0005g0046 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0110 a0001c0001t0005g0124 a0001c0001t0005g0144 a0001c0001t0005g0165 a0001c0001t0005g0194 a0001c0001t0005g0196 a0001c0001t0005g0206 a0001c0001t0006g0004 a0001c0001t0006g0011 a0001c0001t0006g0021 a0001c0001t0006g0031 a0001c0001t0006g0053 a0001c0001t0006g0187 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0007g0163 a0001c0001t0007g0184 a0001c0001t0007g0193 a0001c0001t0007g0232 a0001c0001t0008g0001 a0001c0001t0008g0025 a0001c0001t0009g0014 a0001c0001t0009g0238 a0001c0001t0010g0249 a0001c0001t0010g0252 a0001c0001t0011g0075 a0001c0001t0013g0253 a0001c0001t0014g0254 a0001c0001t0015g0222 a0001c0001t0016g0250 a0001c0001t0017g0251 a0001c0001t0018g0255 a0001c0001t0019g0201 a0001c0001t0020g0203 a0001c0001t0021g0033 a0001c0001t0022g0049 a0001c0001t0023g0207 a0001c0001t0024g0107 a0001c0001t0025g0159 a0001c0001t0026g0055 a0001c0001t0027g0034 a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0189 a0001c0002t0001g0218 a0001c0002t0002g0038 a0001c0002t0002g0044 a0001c0002t0002g0071 a0001c0002t0002g0096 a0001c0002t0002g0116 a0001c0002t0002g0161 a0001c0002t0002g0168 a0001c0002t0002g0171 a0001c0002t0002g0224 a0001c0002t0002g0230 a0001c0002t0003g0006 a0001c0002t0003g0101 a0001c0002t0003g0198 a0001c0002t0003g0256 a0001c0002t0005g0016 a0001c0002t0006g0175 a0001c0002t0006g0223 a0001c0002t0006g0247 a0001c0003t0001g0057 a0001c0003t0006g0051 a0001c0003t0006g0118 a0001c0003t0008g0131 a0001c0003t0011g0248 a0001c0003t0012g0047 a0001c0003t0012g0076 a0001c0004t0005g0003 a0001c0004t0005g0233 a0001c0004t0006g0032 a0001c0004t0007g0023 a0001c0004t0007g0127 a0001c0005t0002g0045 a0001c0005t0003g0109 a0001c0005t0003g0208 a0002c0007t0006g0186 a0003c0006t0002g0115 a0004c0008t0002g0092	235	256	0.9180	0	c.967 others(5): Show c.967+6T>G		CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	8/11					chr15	TogoVar
CORO6_chr17_29609762_29627912	29621489	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp1 HG03225.hp1 HG03471.hp2 HG02723.hp1 HG03225.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	3	366	0.0082	0	c.-63 others(5): Show c.-63-5C>T		CORO6	ENSG00000167549.19	transcript	ENST00000388767.8	protein_coding	1/10					chr17	TogoVar
CORO7_chr16_4349542_4421596	4364693	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02897.hp2 HG02897.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0001 a0003c0018t0001	a0003c0018t0001g0277 a0003c0018t0001g0277	1	297	0.0034	0	c.104 others(6): Show c.1045-4C>A		CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	12/27					chr16	TogoVar
CORO7_chr16_4349542_4421596	4408182	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG04184.hp2 HG04184.hp2	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0001 a0007c0025t0001	a0007c0025t0001g0243 a0007c0025t0001g0243	1	297	0.0034	0	c.302 others(3): Show c.302C>T	p.Thr others(6): Show p.Thr101Met	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	4/28	380/3472	302/2778	101/925		chr16	TogoVar
CORT_chr1_10445031_10456998	10451996	T T	C C	splice_region_variant splice_region_variant	LOW	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	1	428	0.0023	0	c.40 others(4): Show c.401T>C		CORT	ENSG00000241563.4	transcript	ENST00000377049.4	protein_coding	2/2					chr1	TogoVar
CORT_chr1_10445031_10456998	10451997	A A	T T	splice_region_variant splice_region_variant	LOW	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	1	428	0.0023	0	c.40 others(4): Show c.402A>T		CORT	ENSG00000241563.4	transcript	ENST00000377049.4	protein_coding	2/2					chr1	TogoVar
COX10_chr17_14064504_14213677	14069646	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02004.hp1 HG02004.hp1	a0007 a0007	a0007c0027 a0007c0027	a0007c0027t0009 a0007c0027t0009	a0007c0027t0009g0209 a0007c0027t0009g0209	1	322	0.0031	0	c.41C others(2): Show c.41C>T	p.Thr others(5): Show p.Thr14Ile	COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding	1/7	143/2898	41/1332	14/443		chr17	TogoVar
COX10_chr17_14064504_14213677	14206798	A A	ACCC ACCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG01109.hp2 HG01192.hp1 others(25): Show HG00323.hp2 HG01109.hp2 HG01192.hp1 HG01934.hp1 HG02293.hp2 HG02486.hp1 HG02809.hp1 HG02970.hp2 HG03017.hp1 HG03486.hp2 HG03516.hp1 HG03831.hp1 HG03927.hp1 NA18939.hp1 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18972.hp1 NA18977.hp1 NA18994.hp1 NA18999.hp2 NA19005.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19240.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0002c0002 others(3): Show a0001c0003 a0001c0004 a0002c0002 a0002c0008 a0003c0014 a0003c0029	a0001c0003t0002 a0001c0003t0020 a0001c0004t0002 others(6): Show a0001c0003t0002 a0001c0003t0020 a0001c0004t0002 a0002c0002t0002 a0002c0002t0022 a0002c0008t0002 a0002c0008t0023 a0003c0014t0002 a0003c0029t0002	a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0009 others(25): Show a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0025 a0001c0003t0002g0076 a0001c0003t0002g0288 a0001c0003t0002g0315 a0001c0003t0020g0005 a0001c0004t0002g0011 a0001c0004t0002g0020 a0001c0004t0002g0103 a0001c0004t0002g0161 a0001c0004t0002g0164 a0002c0002t0002g0174 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0199 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0022g0234 a0002c0008t0002g0233 a0002c0008t0002g0255 a0002c0008t0023g0249 a0003c0014t0002g0045 a0003c0029t0002g0047	28	322	0.0870	3	c.929 others(14): Show c.929-9_929-7dupCCC		COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr17	TogoVar
COX15_chr10_99705868_99737127	99716469	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0086 a0001c0001t0005g0086	1	422	0.0024	0	c.988 others(5): Show c.988-8C>A		COX15	ENSG00000014919.13	transcript	ENST00000016171.6	protein_coding	7/8					chr10	TogoVar
COX16_chr14_70320081_70364683	70359521	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	376	0.0027	0	c.67T others(2): Show c.67T>G	p.Leu others(5): Show p.Leu23Val	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	1/4	163/1669	67/321	23/106		chr14	TogoVar
COX18_chr4_73047362_73074716	73064909	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp2 HG02738.hp1 HG03831.hp2 HG02602.hp2 HG02738.hp1 HG03831.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0181 a0001c0005t0012g0184 a0001c0005t0012g0186 a0001c0005t0012g0181 a0001c0005t0012g0184 a0001c0005t0012g0186	3	384	0.0078	0	c.599 others(5): Show c.599-7G>A		COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding	3/5					chr4	TogoVar
COX20_chr1_244830658_244850057	244842190	T T	TG TG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp1 HG00733.hp2 HG01074.hp2 others(29): Show HG00733.hp1 HG00733.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG02280.hp1 HG02300.hp1 HG02572.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG03041.hp2 HG03139.hp2 HG03225.hp2 HG03491.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0009 others(5): Show a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0005g0002	32	298	0.1074	1	c.158 others(12): Show c.158-5_158-4insG		COX20	ENSG00000203667.10	transcript	ENST00000411948.7	protein_coding	2/3					chr1	TogoVar
COX5A_chr15_74914791_74943073	74923649	C C	T T	splice_region_variant splice_region_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0212 a0001c0001t0005g0212	1	428	0.0023	0	c.8G others(2): Show c.8G>A		COX5A	ENSG00000178741.12	transcript	ENST00000322347.11	protein_coding	4/5					chr15	TogoVar
COX6C_chr8_99872865_99898707	99891902	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	356	0.0028	0	c.114 others(5): Show c.114+6T>C		COX6C	ENSG00000164919.11	transcript	ENST00000520468.7	protein_coding	2/3					chr8	TogoVar
COX7B2_chr4_46729827_46914245	46844955	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02615.hp1 HG03471.hp2 HG02451.hp1 HG02615.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0073 a0001c0001t0003g0151 a0001c0001t0004g0048 a0001c0001t0002g0073 a0001c0001t0003g0151 a0001c0001t0004g0048	3	300	0.0100	0	c.-50 others(5): Show c.-50+5C>T		COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2					chr4	TogoVar
COX7C_chr5_86612941_86625962	86619338	CTT CTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG02809.hp2 HG03225.hp1 others(1): Show HG02615.hp2 HG02809.hp2 HG03225.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	4	412	0.0097	-2	c.76- others(11): Show c.76-9_76-8delTT		COX7C	ENSG00000127184.13	transcript	ENST00000247655.4	protein_coding	1/2				INFO_REALIGN_3_PRIME	chr5	TogoVar
COX8C_chr14_93342182_93353356	93347392	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0013 a0005c0004t0001g0013	1	427	0.0023	0	c.124 others(3): Show c.124G>C	p.Ala others(5): Show p.Ala42Pro	COX8C	ENSG00000187581.3	transcript	ENST00000342144.3	protein_coding	1/2	211/542	124/219	42/72		chr14	TogoVar
COX8C_chr14_93342182_93353356	93347393	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0013 a0005c0004t0001g0013	1	427	0.0023	0	c.125 others(3): Show c.125C>A	p.Ala others(5): Show p.Ala42Glu	COX8C	ENSG00000187581.3	transcript	ENST00000342144.3	protein_coding	1/2	212/542	125/219	42/72		chr14	TogoVar
COX8C_chr14_93342182_93353356	93347400	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp1 NA19043.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0013 a0005c0004t0001g0013	1	427	0.0023	0	c.126 others(5): Show c.126+6T>G		COX8C	ENSG00000187581.3	transcript	ENST00000342144.3	protein_coding	1/1					chr14	TogoVar
CPA1_chr7_130375494_130393108	130383793	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0001 a0006c0012t0001g0001	1	434	0.0023	0	c.695 others(3): Show c.695C>T	p.Thr others(6): Show p.Thr232Met	CPA1	ENSG00000091704.10	transcript	ENST00000011292.8	protein_coding	6/10	722/1384	695/1260	232/419		chr7	TogoVar
CPA1_chr7_130375494_130393108	130383797	A A	AC AC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01928.hp2 HG03927.hp1 NA19067.hp2 others(2): Show HG01928.hp2 HG03927.hp1 NA19067.hp2 NA19078.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0064 others(2): Show a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0004g0052 a0001c0002t0001g0033	5	434	0.0115	1	c.696 others(6): Show c.696+5dupC		CPA1	ENSG00000091704.10	transcript	ENST00000011292.8	protein_coding	6/9				INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA1_chr7_130375494_130393108	130385922	T T	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0053 a0001c0009t0001g0053	1	434	0.0023	0	c.107 others(4): Show c.1071T>A	p.Ile others(6): Show p.Ile357Ile	CPA1	ENSG00000091704.10	transcript	ENST00000011292.8	protein_coding	9/10	1098/1384	1071/1260	357/419		chr7	TogoVar
CPA1_chr7_130375494_130393108	130388108	A A	C C	splice_region_variant splice_region_variant	LOW	HG00639.hp2 HG02055.hp2 HG02109.hp1 others(7): Show HG00639.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02965.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	10	434	0.0230	0	c.97 others(3): Show c.97A>C		CPA1	ENSG00000091704.10	transcript	ENST00000011292.8	protein_coding	10/10					chr7	TogoVar
CPA2_chr7_130261863_130294798	130277923	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG03139.hp2 HG02145.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0227 a0001c0001t0001g0230	2	400	0.0050	0	c.787 others(5): Show c.787+7G>A		CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	8/10					chr7	TogoVar
CPA3_chr3_148860296_148902203	148865467	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	400	0.0025	0	c.69- others(4): Show c.69-6A>G		CPA3	ENSG00000163751.4	transcript	ENST00000296046.4	protein_coding	1/10					chr3	TogoVar
CPA3_chr3_148860296_148902203	148883820	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp1 NA18949.hp1 NA18963.hp1 others(2): Show HG00597.hp1 NA18949.hp1 NA18963.hp1 NA18973.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0126 others(2): Show a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0126 a0001c0001t0002g0135 a0001c0001t0002g0139	5	400	0.0125	0	c.981 others(5): Show c.981+5G>A		CPA3	ENSG00000163751.4	transcript	ENST00000296046.4	protein_coding	9/10					chr3	TogoVar
CPA3_chr3_148860296_148902203	148886177	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0022 a0008c0009t0002g0022	1	400	0.0025	0	c.106 others(4): Show c.1066T>C	p.Tyr others(6): Show p.Tyr356His	CPA3	ENSG00000163751.4	transcript	ENST00000296046.4	protein_coding	10/11	1078/1762	1066/1254	356/417		chr3	TogoVar
CPA4_chr7_130288161_130329180	130305928	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01978.hp1 homoSapiens_chm13v2.hp1 HG01978.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0026 a0003c0003t0020 a0001c0001t0026 a0003c0003t0020	a0001c0001t0026g0161 a0003c0003t0020g0155 a0001c0001t0026g0161 a0003c0003t0020g0155	2	402	0.0050	0	c.591 others(5): Show c.591+8T>A		CPA4	ENSG00000128510.12	transcript	ENST00000222482.10	protein_coding	6/10					chr7	TogoVar
CPA5_chr7_130339816_130373730	130346385	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(244): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011	a0001c0001 a0001c0004 a0001c0010 others(17): Show a0001c0001 a0001c0004 a0001c0010 a0001c0017 a0001c0026 a0001c0030 a0001c0032 a0002c0005 a0002c0008 a0002c0025 a0003c0007 a0003c0016 a0003c0027 a0004c0012 a0005c0011 a0006c0018 a0007c0028 a0008c0029 a0010c0024 a0011c0031	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(22): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0004t0001 a0001c0004t0004 a0001c0010t0001 a0001c0017t0001 a0001c0026t0001 a0001c0030t0001 a0001c0032t0001 a0002c0005t0001 a0002c0005t0004 a0002c0005t0005 a0002c0008t0001 a0002c0025t0001 a0003c0007t0001 a0003c0016t0001 a0003c0027t0001 a0004c0012t0004 a0005c0011t0001 a0006c0018t0001 a0007c0028t0007 a0008c0029t0001 a0010c0024t0001 a0011c0031t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(136): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0005g0134 a0001c0001t0008g0160 a0001c0004t0001g0020 a0001c0004t0001g0063 a0001c0004t0001g0142 a0001c0004t0001g0180 a0001c0004t0001g0183 a0001c0004t0001g0212 a0001c0004t0001g0217 a0001c0004t0001g0223 a0001c0004t0001g0225 a0001c0004t0004g0013 a0001c0004t0004g0020 a0001c0004t0004g0063 a0001c0004t0004g0224 a0001c0004t0004g0226 a0001c0010t0001g0012 a0001c0017t0001g0154 a0001c0017t0001g0156 a0001c0026t0001g0053 a0001c0030t0001g0181 a0001c0032t0001g0003 a0002c0005t0001g0011 a0002c0005t0001g0029 a0002c0005t0001g0061 a0002c0005t0001g0213 a0002c0005t0001g0214 a0002c0005t0001g0215 a0002c0005t0001g0216 a0002c0005t0004g0030 a0002c0005t0005g0032 a0002c0005t0005g0133 a0002c0008t0001g0006 a0002c0008t0001g0026 a0002c0008t0001g0153 a0002c0025t0001g0149 a0003c0007t0001g0021 a0003c0007t0001g0022 a0003c0007t0001g0031 a0003c0007t0001g0135 a0003c0007t0001g0136 a0003c0007t0001g0137 a0003c0007t0001g0138 a0003c0007t0001g0139 a0003c0016t0001g0052 a0003c0027t0001g0155 a0004c0012t0004g0062 a0004c0012t0004g0218 a0005c0011t0001g0058 a0005c0011t0001g0189 a0006c0018t0001g0055 a0007c0028t0007g0064 a0008c0029t0001g0131 a0010c0024t0001g0026 a0011c0031t0001g0167	247	412	0.5995	0	c.-93 others(5): Show c.-93-8T>A		CPA5	ENSG00000158525.16	transcript	ENST00000474905.6	protein_coding	2/12					chr7	TogoVar
CPA5_chr7_130339816_130373730	130346395	T T	C C	splice_region_variant splice_region_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(244): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011	a0001c0001 a0001c0004 a0001c0010 others(17): Show a0001c0001 a0001c0004 a0001c0010 a0001c0017 a0001c0026 a0001c0030 a0001c0032 a0002c0005 a0002c0008 a0002c0025 a0003c0007 a0003c0016 a0003c0027 a0004c0012 a0005c0011 a0006c0018 a0007c0028 a0008c0029 a0010c0024 a0011c0031	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(22): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0004t0001 a0001c0004t0004 a0001c0010t0001 a0001c0017t0001 a0001c0026t0001 a0001c0030t0001 a0001c0032t0001 a0002c0005t0001 a0002c0005t0004 a0002c0005t0005 a0002c0008t0001 a0002c0025t0001 a0003c0007t0001 a0003c0016t0001 a0003c0027t0001 a0004c0012t0004 a0005c0011t0001 a0006c0018t0001 a0007c0028t0007 a0008c0029t0001 a0010c0024t0001 a0011c0031t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(136): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0005g0134 a0001c0001t0008g0160 a0001c0004t0001g0020 a0001c0004t0001g0063 a0001c0004t0001g0142 a0001c0004t0001g0180 a0001c0004t0001g0183 a0001c0004t0001g0212 a0001c0004t0001g0217 a0001c0004t0001g0223 a0001c0004t0001g0225 a0001c0004t0004g0013 a0001c0004t0004g0020 a0001c0004t0004g0063 a0001c0004t0004g0224 a0001c0004t0004g0226 a0001c0010t0001g0012 a0001c0017t0001g0154 a0001c0017t0001g0156 a0001c0026t0001g0053 a0001c0030t0001g0181 a0001c0032t0001g0003 a0002c0005t0001g0011 a0002c0005t0001g0029 a0002c0005t0001g0061 a0002c0005t0001g0213 a0002c0005t0001g0214 a0002c0005t0001g0215 a0002c0005t0001g0216 a0002c0005t0004g0030 a0002c0005t0005g0032 a0002c0005t0005g0133 a0002c0008t0001g0006 a0002c0008t0001g0026 a0002c0008t0001g0153 a0002c0025t0001g0149 a0003c0007t0001g0021 a0003c0007t0001g0022 a0003c0007t0001g0031 a0003c0007t0001g0135 a0003c0007t0001g0136 a0003c0007t0001g0137 a0003c0007t0001g0138 a0003c0007t0001g0139 a0003c0016t0001g0052 a0003c0027t0001g0155 a0004c0012t0004g0062 a0004c0012t0004g0218 a0005c0011t0001g0058 a0005c0011t0001g0189 a0006c0018t0001g0055 a0007c0028t0007g0064 a0008c0029t0001g0131 a0010c0024t0001g0026 a0011c0031t0001g0167	247	412	0.5995	0	c.-91 others(3): Show c.-91T>C		CPA5	ENSG00000158525.16	transcript	ENST00000474905.6	protein_coding	3/13					chr7	TogoVar
CPA6_chr8_67417038_67751360	67484680	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp2 HG01070.hp1 HG01074.hp2 others(4): Show HG00140.hp2 HG01070.hp1 HG01074.hp2 HG01884.hp2 HG02698.hp2 HG02886.hp2 HG03239.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0004 a0003c0003 a0005c0004	a0003c0003t0001 a0005c0004t0001 a0003c0003t0001 a0005c0004t0001	a0003c0003t0001g0043 a0003c0003t0001g0047 a0003c0003t0001g0048 others(4): Show a0003c0003t0001g0043 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0077 a0005c0004t0001g0024 a0005c0004t0001g0049 a0005c0004t0001g0090	7	144	0.0486	0	c.746 others(3): Show c.746A>G	p.Asn others(6): Show p.Asn249Ser	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	7/11	977/2011	746/1314	249/437		chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16897999	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp2 HG03471.hp1 HG03098.hp2 HG03471.hp1	a0010 a0122 a0010 a0122	a0010c0004 a0122c0162 a0010c0004 a0122c0162	a0010c0004t0001 a0122c0162t0001 a0010c0004t0001 a0122c0162t0001	a0010c0004t0001g0068 a0122c0162t0001g0019 a0010c0004t0001g0068 a0122c0162t0001g0019	2	278	0.0072	0	c.484 others(6): Show c.4849-5C>T		CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	37/41					chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16914501	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG01109.hp1 HG01168.hp1 others(40): Show HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG02055.hp1 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1	a0002 a0005 a0007 others(28): Show a0002 a0005 a0007 a0009 a0012 a0016 a0020 a0027 a0028 a0029 a0034 a0035 a0039 a0045 a0047 a0055 a0057 a0065 a0072 a0085 a0086 a0093 a0097 a0098 a0099 a0100 a0109 a0117 a0120 a0123 a0124	a0002c0018 a0002c0056 a0002c0120 others(32): Show a0002c0018 a0002c0056 a0002c0120 a0005c0003 a0007c0052 a0007c0170 a0009c0010 a0012c0029 a0016c0050 a0016c0185 a0020c0011 a0027c0035 a0028c0182 a0029c0067 a0034c0070 a0035c0026 a0039c0076 a0045c0118 a0047c0046 a0055c0145 a0057c0073 a0065c0101 a0072c0081 a0085c0063 a0086c0179 a0093c0177 a0097c0171 a0098c0172 a0099c0054 a0100c0068 a0109c0184 a0117c0110 a0120c0164 a0123c0048 a0124c0186	a0002c0018t0001 a0002c0056t0001 a0002c0120t0001 others(32): Show a0002c0018t0001 a0002c0056t0001 a0002c0120t0001 a0005c0003t0002 a0007c0052t0002 a0007c0170t0002 a0009c0010t0002 a0012c0029t0001 a0016c0050t0001 a0016c0185t0001 a0020c0011t0001 a0027c0035t0001 a0028c0182t0001 a0029c0067t0001 a0034c0070t0002 a0035c0026t0001 a0039c0076t0001 a0045c0118t0001 a0047c0046t0002 a0055c0145t0001 a0057c0073t0001 a0065c0101t0001 a0072c0081t0001 a0085c0063t0001 a0086c0179t0001 a0093c0177t0001 a0097c0171t0002 a0098c0172t0001 a0099c0054t0001 a0100c0068t0002 a0109c0184t0001 a0117c0110t0001 a0120c0164t0001 a0123c0048t0001 a0124c0186t0001	a0002c0018t0001g0099 a0002c0018t0001g0115 a0002c0018t0001g0116 others(40): Show a0002c0018t0001g0099 a0002c0018t0001g0115 a0002c0018t0001g0116 a0002c0056t0001g0081 a0002c0120t0001g0074 a0005c0003t0002g0166 a0007c0052t0002g0119 a0007c0170t0002g0117 a0009c0010t0002g0208 a0009c0010t0002g0209 a0012c0029t0001g0151 a0012c0029t0001g0152 a0016c0050t0001g0095 a0016c0185t0001g0058 a0020c0011t0001g0017 a0020c0011t0001g0020 a0020c0011t0001g0021 a0027c0035t0001g0045 a0028c0182t0001g0062 a0029c0067t0001g0004 a0034c0070t0002g0091 a0035c0026t0001g0233 a0035c0026t0001g0234 a0039c0076t0001g0126 a0045c0118t0001g0024 a0047c0046t0002g0135 a0047c0046t0002g0136 a0055c0145t0001g0093 a0057c0073t0001g0066 a0065c0101t0001g0001 a0072c0081t0001g0067 a0085c0063t0001g0018 a0086c0179t0001g0102 a0093c0177t0001g0072 a0097c0171t0002g0163 a0098c0172t0001g0006 a0099c0054t0001g0003 a0100c0068t0002g0159 a0109c0184t0001g0057 a0117c0110t0001g0055 a0120c0164t0001g0013 a0123c0048t0001g0011 a0124c0186t0001g0049	43	278	0.1547	0	c.378 others(6): Show c.3787-3C>T		CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	28/41					chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16938444	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02055.hp2 HG02055.hp2	a0110 a0110	a0110c0115 a0110c0115	a0110c0115t0001 a0110c0115t0001	a0110c0115t0001g0098 a0110c0115t0001g0098	1	278	0.0036	0	c.279 others(4): Show c.2796G>A	p.Ala others(6): Show p.Ala932Ala	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	23/42	2964/5983	2796/5658	932/1885		chr19	TogoVar
CPAMD8_chr19_16887951_17031810	17000406	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp2 NA19030.hp2 HG02922.hp2 NA19030.hp2	a0002 a0045 a0002 a0045	a0002c0120 a0045c0118 a0002c0120 a0045c0118	a0002c0120t0001 a0045c0118t0001 a0002c0120t0001 a0045c0118t0001	a0002c0120t0001g0074 a0045c0118t0001g0024 a0002c0120t0001g0074 a0045c0118t0001g0024	2	278	0.0072	0	c.867 others(5): Show c.867+8A>G		CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	10/41					chr19	TogoVar
CPAMD8_chr19_16887951_17031810	17022185	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp1 HG02683.hp1	a0064 a0064	a0064c0161 a0064c0161	a0064c0161t0002 a0064c0161t0002	a0064c0161t0002g0187 a0064c0161t0002g0187	1	278	0.0036	0	c.93- others(4): Show c.93-4G>A		CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	1/41					chr19	TogoVar
CPB1_chr3_148822811_148865187	148828002	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02055.hp2 HG02809.hp2 HG03098.hp1 HG02055.hp2 HG02809.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0004 a0001c0011 a0002c0004	a0001c0011t0001 a0002c0004t0001 a0001c0011t0001 a0002c0004t0001	a0001c0011t0001g0397 a0002c0004t0001g0388 a0002c0004t0001g0392 a0001c0011t0001g0397 a0002c0004t0001g0388 a0002c0004t0001g0392	3	456	0.0066	0	c.72C others(2): Show c.72C>T	p.Gly others(5): Show p.Gly24Gly	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	2/11	85/1452	72/1254	24/417		chr3	TogoVar

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