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	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
ADAMTS20_chr12_43348866_43557203	43375504	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02970.hp2 HG02258.hp1 HG02970.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0002 a0008c0015t0001 a0008c0015t0002	a0008c0015t0001g0150 a0008c0015t0002g0291 a0008c0015t0001g0150 a0008c0015t0002g0291	2	306	0.0065	c.532 others(4): Show c.5321A>G	p.Asn others(7): Show p.Asn1774Ser	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	36/39	5603/6358	5321/5733	1774/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43377373	A A	C C	missense_variant missense_variant	MODERATE	NA18986.hp2 NA18986.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0233 a0013c0018t0001g0233	1	306	0.0033	c.498 others(4): Show c.4987T>G	p.Trp others(7): Show p.Trp1663Gly	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	32/39	5269/6358	4987/5733	1663/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43377559	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp2 HG03453.hp2 HG02896.hp2 HG03453.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0193 a0007c0013t0001g0194 a0007c0013t0001g0193 a0007c0013t0001g0194	2	306	0.0065	c.480 others(4): Show c.4801G>A	p.Ala others(7): Show p.Ala1601Thr	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	32/39	5083/6358	4801/5733	1601/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43383827	C C	A A	missense_variant missense_variant	MODERATE	NA18961.hp1 NA18974.hp1 NA18991.hp2 others(1): Show NA18961.hp1 NA18974.hp1 NA18991.hp2 NA19001.hp2	a0005 a0015 a0005 a0015	a0005c0010 a0015c0023 a0005c0010 a0015c0023	a0005c0010t0001 a0015c0023t0001 a0005c0010t0001 a0015c0023t0001	a0005c0010t0001g0108 a0005c0010t0001g0110 a0005c0010t0001g0123 others(1): Show a0005c0010t0001g0108 a0005c0010t0001g0110 a0005c0010t0001g0123 a0015c0023t0001g0105	4	306	0.0131	c.460 others(4): Show c.4603G>T	p.Gly others(7): Show p.Gly1535Trp	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	30/39	4885/6358	4603/5733	1535/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43425534	G G	A A	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0003 a0014c0019t0003	a0014c0019t0003g0001 a0014c0019t0003g0001	1	306	0.0033	c.426 others(4): Show c.4264C>T	p.His others(7): Show p.His1422Tyr	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	28/39	4546/6358	4264/5733	1422/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43425674	C C	T T	missense_variant missense_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0001 a0012c0024t0001	a0012c0024t0001g0009 a0012c0024t0001g0009	1	306	0.0033	c.412 others(4): Show c.4124G>A	p.Gly others(7): Show p.Gly1375Glu	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	28/39	4406/6358	4124/5733	1375/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43427322	C C	T T	missense_variant missense_variant	MODERATE	NA18991.hp2 NA18991.hp2	a0015 a0015	a0015c0023 a0015c0023	a0015c0023t0001 a0015c0023t0001	a0015c0023t0001g0105 a0015c0023t0001g0105	1	306	0.0033	c.409 others(4): Show c.4093G>A	p.Gly others(7): Show p.Gly1365Arg	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	27/39	4375/6358	4093/5733	1365/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43427352	C C	A A	missense_variant missense_variant	MODERATE	NA19004.hp1 NA19004.hp1	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0001 a0016c0028t0001	a0016c0028t0001g0253 a0016c0028t0001g0253	1	306	0.0033	c.406 others(4): Show c.4063G>T	p.Gly others(7): Show p.Gly1355Cys	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	27/39	4345/6358	4063/5733	1355/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43428368	G G	A A	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00597.hp1 HG01891.hp2 others(20): Show HG00558.hp2 HG00597.hp1 HG01891.hp2 HG02280.hp1 HG04204.hp1 NA18940.hp2 NA18941.hp2 NA18947.hp1 NA18954.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18991.hp1 NA18994.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19060.hp1 NA19066.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp2	a0002 a0016 a0002 a0016	a0002c0004 a0002c0020 a0002c0026 others(2): Show a0002c0004 a0002c0020 a0002c0026 a0002c0027 a0016c0028	a0002c0004t0001 a0002c0004t0002 a0002c0020t0001 others(3): Show a0002c0004t0001 a0002c0004t0002 a0002c0020t0001 a0002c0026t0001 a0002c0027t0001 a0016c0028t0001	a0002c0004t0001g0015 a0002c0004t0001g0251 a0002c0004t0001g0252 others(20): Show a0002c0004t0001g0015 a0002c0004t0001g0251 a0002c0004t0001g0252 a0002c0004t0001g0254 a0002c0004t0001g0255 a0002c0004t0001g0257 a0002c0004t0001g0258 a0002c0004t0001g0259 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0263 a0002c0004t0001g0264 a0002c0004t0001g0267 a0002c0004t0001g0268 a0002c0004t0001g0269 a0002c0004t0001g0270 a0002c0004t0001g0272 a0002c0004t0002g0302 a0002c0020t0001g0231 a0002c0026t0001g0271 a0002c0027t0001g0256 a0016c0028t0001g0253	23	306	0.0752	c.381 others(4): Show c.3818C>T	p.Ser others(7): Show p.Ser1273Phe	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	26/39	4100/6358	3818/5733	1273/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43432389	T T	C C	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02976.hp1 HG03209.hp1 others(1): Show HG01109.hp1 HG02976.hp1 HG03209.hp1 NA18522.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0136 a0004c0006t0001g0137 a0004c0006t0001g0191 others(1): Show a0004c0006t0001g0136 a0004c0006t0001g0137 a0004c0006t0001g0191 a0004c0006t0001g0216	4	306	0.0131	c.301 others(4): Show c.3011A>G	p.Asn others(7): Show p.Asn1004Ser	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	21/39	3293/6358	3011/5733	1004/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43432401	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00597.hp1 HG01891.hp2 others(20): Show HG00558.hp2 HG00597.hp1 HG01891.hp2 HG02280.hp1 HG04204.hp1 NA18940.hp2 NA18941.hp2 NA18947.hp1 NA18954.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18991.hp1 NA18994.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19060.hp1 NA19066.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp2	a0002 a0016 a0002 a0016	a0002c0004 a0002c0020 a0002c0026 others(2): Show a0002c0004 a0002c0020 a0002c0026 a0002c0027 a0016c0028	a0002c0004t0001 a0002c0004t0002 a0002c0020t0001 others(3): Show a0002c0004t0001 a0002c0004t0002 a0002c0020t0001 a0002c0026t0001 a0002c0027t0001 a0016c0028t0001	a0002c0004t0001g0015 a0002c0004t0001g0251 a0002c0004t0001g0252 others(20): Show a0002c0004t0001g0015 a0002c0004t0001g0251 a0002c0004t0001g0252 a0002c0004t0001g0254 a0002c0004t0001g0255 a0002c0004t0001g0257 a0002c0004t0001g0258 a0002c0004t0001g0259 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0263 a0002c0004t0001g0264 a0002c0004t0001g0267 a0002c0004t0001g0268 a0002c0004t0001g0269 a0002c0004t0001g0270 a0002c0004t0001g0272 a0002c0004t0002g0302 a0002c0020t0001g0231 a0002c0026t0001g0271 a0002c0027t0001g0256 a0016c0028t0001g0253	23	306	0.0752	c.299 others(4): Show c.2999G>A	p.Arg others(7): Show p.Arg1000His	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	21/39	3281/6358	2999/5733	1000/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43432787	T T	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02258.hp2 HG02451.hp1 others(4): Show HG01884.hp1 HG02258.hp2 HG02451.hp1 HG02896.hp2 HG02965.hp1 HG03453.hp2 NA18906.hp1	a0003 a0007 a0010 a0003 a0007 a0010	a0003c0007 a0007c0013 a0010c0030 a0003c0007 a0007c0013 a0010c0030	a0003c0007t0001 a0007c0013t0001 a0010c0030t0001 a0003c0007t0001 a0007c0013t0001 a0010c0030t0001	a0003c0007t0001g0076 a0003c0007t0001g0152 a0003c0007t0001g0153 others(4): Show a0003c0007t0001g0076 a0003c0007t0001g0152 a0003c0007t0001g0153 a0003c0007t0001g0154 a0007c0013t0001g0193 a0007c0013t0001g0194 a0010c0030t0001g0243	7	306	0.0229	c.274 others(4): Show c.2745A>T	p.Glu others(6): Show p.Glu915Asp	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	20/39	3027/6358	2745/5733	915/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43434338	T T	A A	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00597.hp1 HG01891.hp2 others(20): Show HG00558.hp2 HG00597.hp1 HG01891.hp2 HG02280.hp1 HG04204.hp1 NA18940.hp2 NA18941.hp2 NA18947.hp1 NA18954.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18991.hp1 NA18994.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19060.hp1 NA19066.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp2	a0002 a0016 a0002 a0016	a0002c0004 a0002c0020 a0002c0026 others(2): Show a0002c0004 a0002c0020 a0002c0026 a0002c0027 a0016c0028	a0002c0004t0001 a0002c0004t0002 a0002c0020t0001 others(3): Show a0002c0004t0001 a0002c0004t0002 a0002c0020t0001 a0002c0026t0001 a0002c0027t0001 a0016c0028t0001	a0002c0004t0001g0015 a0002c0004t0001g0251 a0002c0004t0001g0252 others(20): Show a0002c0004t0001g0015 a0002c0004t0001g0251 a0002c0004t0001g0252 a0002c0004t0001g0254 a0002c0004t0001g0255 a0002c0004t0001g0257 a0002c0004t0001g0258 a0002c0004t0001g0259 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0263 a0002c0004t0001g0264 a0002c0004t0001g0267 a0002c0004t0001g0268 a0002c0004t0001g0269 a0002c0004t0001g0270 a0002c0004t0001g0272 a0002c0004t0002g0302 a0002c0020t0001g0231 a0002c0026t0001g0271 a0002c0027t0001g0256 a0016c0028t0001g0253	23	306	0.0752	c.262 others(4): Show c.2627A>T	p.Lys others(6): Show p.Lys876Met	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	19/39	2909/6358	2627/5733	876/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43452396	G G	T T	missense_variant missense_variant	MODERATE	NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0038 a0006c0008t0001g0040 a0006c0008t0001g0124 a0006c0008t0001g0038 a0006c0008t0001g0040 a0006c0008t0001g0124	3	306	0.0098	c.195 others(4): Show c.1957C>A	p.Arg others(6): Show p.Arg653Ser	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	14/39	2239/6358	1957/5733	653/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43453908	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03130.hp1 HG03540.hp2 HG03130.hp1 HG03540.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0207 a0009c0014t0001g0209 a0009c0014t0001g0207 a0009c0014t0001g0209	2	306	0.0065	c.175 others(4): Show c.1759G>A	p.Glu others(6): Show p.Glu587Lys	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	12/39	2041/6358	1759/5733	587/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43502358	T T	G G	missense_variant missense_variant	MODERATE	HG03579.hp1 NA18906.hp1 HG03579.hp1 NA18906.hp1	a0010 a0011 a0010 a0011	a0010c0030 a0011c0029 a0010c0030 a0011c0029	a0010c0030t0001 a0011c0029t0002 a0010c0030t0001 a0011c0029t0002	a0010c0030t0001g0243 a0011c0029t0002g0276 a0010c0030t0001g0243 a0011c0029t0002g0276	2	306	0.0065	c.661 others(3): Show c.661A>C	p.Met others(6): Show p.Met221Leu	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	4/39	943/6358	661/5733	221/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43551004	C C	G G	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0001 a0017c0017t0001	a0017c0017t0001g0014 a0017c0017t0001g0014	1	306	0.0033	c.358 others(3): Show c.358G>C	p.Asp others(6): Show p.Asp120His	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	2/39	640/6358	358/5733	120/1910	chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43551840	G G	T T	missense_variant missense_variant	MODERATE	NA18968.hp1 NA18968.hp1	a0018 a0018	a0018c0016 a0018c0016	a0018c0016t0001 a0018c0016t0001	a0018c0016t0001g0007 a0018c0016t0001g0007	1	306	0.0033	c.82C others(2): Show c.82C>A	p.Pro others(5): Show p.Pro28Thr	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	1/39	364/6358	82/5733	28/1910	chr12	TogoVar
ADAMTS2_chr5_179105853_179350461	179113974	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00323.hp2 HG00558.hp2 others(58): Show HG00140.hp1 HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00735.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02683.hp1 HG02735.hp2 HG03017.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18945.hp1 NA18947.hp2 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18966.hp2 NA18971.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18998.hp2 NA19007.hp1 NA19011.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0005 a0006 a0007 others(9): Show a0005 a0006 a0007 a0008 a0009 a0011 a0021 a0023 a0027 a0032 a0033 a0035	a0005c0013 a0005c0015 a0005c0019 others(22): Show a0005c0013 a0005c0015 a0005c0019 a0005c0033 a0005c0047 a0005c0073 a0005c0077 a0006c0009 a0006c0011 a0006c0044 a0006c0056 a0006c0061 a0006c0062 a0007c0005 a0008c0010 a0009c0021 a0009c0026 a0009c0041 a0011c0020 a0021c0088 a0023c0090 a0027c0094 a0032c0045 a0033c0076 a0035c0071	a0005c0013t0003 a0005c0013t0010 a0005c0015t0003 others(29): Show a0005c0013t0003 a0005c0013t0010 a0005c0015t0003 a0005c0015t0005 a0005c0019t0003 a0005c0033t0003 a0005c0047t0010 a0005c0073t0003 a0005c0077t0017 a0006c0009t0003 a0006c0009t0005 a0006c0011t0003 a0006c0044t0003 a0006c0056t0003 a0006c0061t0003 a0006c0062t0003 a0007c0005t0003 a0007c0005t0009 a0008c0010t0003 a0008c0010t0009 a0009c0021t0003 a0009c0021t0009 a0009c0021t0018 a0009c0026t0003 a0009c0041t0003 a0011c0020t0003 a0021c0088t0003 a0023c0090t0016 a0027c0094t0003 a0032c0045t0003 a0033c0076t0005 a0035c0071t0005	a0005c0013t0003g0024 a0005c0013t0003g0087 a0005c0013t0010g0075 others(58): Show a0005c0013t0003g0024 a0005c0013t0003g0087 a0005c0013t0010g0075 a0005c0013t0010g0077 a0005c0015t0003g0041 a0005c0015t0003g0070 a0005c0015t0003g0072 a0005c0015t0005g0076 a0005c0019t0003g0152 a0005c0019t0003g0160 a0005c0019t0003g0180 a0005c0033t0003g0139 a0005c0033t0003g0140 a0005c0047t0010g0175 a0005c0073t0003g0142 a0005c0077t0017g0135 a0006c0009t0003g0027 a0006c0009t0003g0037 a0006c0009t0003g0078 a0006c0009t0003g0079 a0006c0009t0005g0043 a0006c0009t0005g0109 a0006c0011t0003g0153 a0006c0011t0003g0168 a0006c0011t0003g0174 a0006c0011t0003g0184 a0006c0011t0003g0185 a0006c0044t0003g0165 a0006c0056t0003g0106 a0006c0061t0003g0039 a0006c0062t0003g0104 a0007c0005t0003g0222 a0007c0005t0003g0229 a0007c0005t0003g0247 a0007c0005t0003g0250 a0007c0005t0003g0260 a0007c0005t0003g0263 a0007c0005t0003g0264 a0007c0005t0003g0273 a0007c0005t0009g0242 a0008c0010t0003g0241 a0008c0010t0003g0243 a0008c0010t0003g0245 a0008c0010t0003g0256 a0008c0010t0003g0257 a0008c0010t0009g0255 a0009c0021t0003g0016 a0009c0021t0009g0093 a0009c0021t0018g0116 a0009c0026t0003g0137 a0009c0026t0003g0138 a0009c0041t0003g0164 a0011c0020t0003g0047 a0011c0020t0003g0096 a0011c0020t0003g0124 a0021c0088t0003g0214 a0023c0090t0016g0215 a0027c0094t0003g0266 a0032c0045t0003g0171 a0033c0076t0005g0080 a0035c0071t0005g0044	61	276	0.2210	c.352 others(4): Show c.3529C>T	p.Pro others(7): Show p.Pro1177Ser	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	22/22	3662/6783	3529/3636	1177/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179113997	C C	A A	missense_variant missense_variant	MODERATE	NA19005.hp1 NA19064.hp1 NA19070.hp2 NA19005.hp1 NA19064.hp1 NA19070.hp2	a0017 a0034 a0017 a0034	a0017c0027 a0034c0066 a0017c0027 a0034c0066	a0017c0027t0004 a0034c0066t0004 a0017c0027t0004 a0034c0066t0004	a0017c0027t0004g0040 a0017c0027t0004g0098 a0034c0066t0004g0099 a0017c0027t0004g0040 a0017c0027t0004g0098 a0034c0066t0004g0099	3	276	0.0109	c.350 others(4): Show c.3506G>T	p.Gly others(7): Show p.Gly1169Val	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	22/22	3639/6783	3506/3636	1169/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179114160	C C	T T	missense_variant missense_variant	MODERATE	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0018 a0018	a0018c0032 a0018c0032	a0018c0032t0001 a0018c0032t0001	a0018c0032t0001g0088 a0018c0032t0001g0089 a0018c0032t0001g0088 a0018c0032t0001g0089	2	276	0.0073	c.334 others(4): Show c.3343G>A	p.Asp others(7): Show p.Asp1115Asn	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	22/22	3476/6783	3343/3636	1115/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179122718	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp2 NA21309.hp2 HG03130.hp2 NA21309.hp2	a0028 a0032 a0028 a0032	a0028c0112 a0032c0045 a0028c0112 a0032c0045	a0028c0112t0001 a0032c0045t0003 a0028c0112t0001 a0032c0045t0003	a0028c0112t0001g0206 a0032c0045t0003g0171 a0028c0112t0001g0206 a0032c0045t0003g0171	2	276	0.0073	c.301 others(4): Show c.3014C>T	p.Ala others(7): Show p.Ala1005Val	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	20/22	3147/6783	3014/3636	1005/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179128096	C C	T T	missense_variant missense_variant	MODERATE	HG01258.hp1 HG01258.hp1	a0033 a0033	a0033c0076 a0033c0076	a0033c0076t0005 a0033c0076t0005	a0033c0076t0005g0080 a0033c0076t0005g0080	1	276	0.0036	c.248 others(4): Show c.2480G>A	p.Arg others(6): Show p.Arg827Gln	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	17/22	2613/6783	2480/3636	827/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179132876	C C	T T	missense_variant missense_variant	MODERATE	HG01433.hp2 HG01433.hp2	a0035 a0035	a0035c0071 a0035c0071	a0035c0071t0005 a0035c0071t0005	a0035c0071t0005g0044 a0035c0071t0005g0044	1	276	0.0036	c.211 others(4): Show c.2110G>A	p.Gly others(6): Show p.Gly704Ser	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	14/22	2243/6783	2110/3636	704/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179207640	C C	T T	missense_variant missense_variant	MODERATE	HG03834.hp1 HG03834.hp1	a0027 a0027	a0027c0094 a0027c0094	a0027c0094t0003 a0027c0094t0003	a0027c0094t0003g0266 a0027c0094t0003g0266	1	276	0.0036	c.764 others(3): Show c.764G>A	p.Arg others(6): Show p.Arg255Gln	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	4/22	897/6783	764/3636	255/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179207653	T T	C C	missense_variant missense_variant	MODERATE	NA18954.hp1 NA18954.hp1	a0024 a0024	a0024c0092 a0024c0092	a0024c0092t0004 a0024c0092t0004	a0024c0092t0004g0216 a0024c0092t0004g0216	1	276	0.0036	c.751 others(3): Show c.751A>G	p.Asn others(6): Show p.Asn251Asp	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	4/22	884/6783	751/3636	251/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179207671	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp2 HG00408.hp2 others(132): Show HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01071.hp2 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01934.hp2 HG01978.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0002 a0003 a0006 others(14): Show a0002 a0003 a0006 a0007 a0010 a0011 a0014 a0016 a0017 a0019 a0021 a0023 a0026 a0027 a0029 a0030 a0032	a0002c0002 a0002c0007 a0002c0008 others(48): Show a0002c0002 a0002c0007 a0002c0008 a0002c0012 a0002c0017 a0002c0023 a0002c0028 a0002c0029 a0002c0030 a0002c0031 a0002c0042 a0002c0043 a0002c0057 a0002c0058 a0002c0059 a0002c0060 a0002c0063 a0003c0003 a0003c0095 a0003c0096 a0003c0097 a0003c0098 a0003c0105 a0003c0106 a0003c0107 a0003c0108 a0003c0109 a0006c0009 a0006c0011 a0006c0044 a0006c0056 a0006c0061 a0006c0062 a0007c0005 a0010c0036 a0010c0053 a0010c0078 a0010c0079 a0011c0020 a0014c0038 a0016c0025 a0017c0027 a0019c0083 a0019c0084 a0021c0088 a0023c0090 a0026c0093 a0027c0094 a0029c0104 a0030c0085 a0032c0045	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(68): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0022 a0002c0007t0002 a0002c0008t0001 a0002c0008t0002 a0002c0008t0004 a0002c0008t0023 a0002c0012t0001 a0002c0012t0007 a0002c0012t0013 a0002c0017t0001 a0002c0017t0004 a0002c0023t0002 a0002c0028t0002 a0002c0028t0004 a0002c0029t0001 a0002c0029t0014 a0002c0030t0008 a0002c0030t0011 a0002c0031t0001 a0002c0031t0004 a0002c0042t0001 a0002c0043t0014 a0002c0057t0004 a0002c0058t0002 a0002c0059t0001 a0002c0060t0001 a0002c0063t0004 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0095t0001 a0003c0096t0002 a0003c0097t0021 a0003c0098t0004 a0003c0105t0012 a0003c0106t0002 a0003c0107t0011 a0003c0108t0008 a0003c0109t0012 a0006c0009t0003 a0006c0009t0005 a0006c0011t0003 a0006c0044t0003 a0006c0056t0003 a0006c0061t0003 a0006c0062t0003 a0007c0005t0003 a0007c0005t0009 a0010c0036t0004 a0010c0036t0007 a0010c0053t0007 a0010c0078t0001 a0010c0079t0011 a0011c0020t0003 a0014c0038t0002 a0014c0038t0019 a0016c0025t0001 a0017c0027t0004 a0019c0083t0001 a0019c0084t0008 a0021c0088t0003 a0023c0090t0016 a0026c0093t0001 a0027c0094t0003 a0029c0104t0027 a0030c0085t0002 a0032c0045t0003	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0008 others(132): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0015 a0002c0002t0001g0030 a0002c0002t0001g0052 a0002c0002t0001g0059 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0125 a0002c0002t0001g0129 a0002c0002t0001g0133 a0002c0002t0002g0143 a0002c0002t0004g0006 a0002c0002t0004g0107 a0002c0002t0004g0123 a0002c0002t0006g0090 a0002c0002t0022g0136 a0002c0007t0002g0012 a0002c0007t0002g0013 a0002c0007t0002g0029 a0002c0007t0002g0031 a0002c0007t0002g0034 a0002c0007t0002g0038 a0002c0007t0002g0082 a0002c0007t0002g0097 a0002c0008t0001g0150 a0002c0008t0001g0166 a0002c0008t0001g0183 a0002c0008t0001g0186 a0002c0008t0002g0155 a0002c0008t0004g0170 a0002c0008t0023g0188 a0002c0012t0001g0056 a0002c0012t0001g0060 a0002c0012t0007g0120 a0002c0012t0013g0071 a0002c0017t0001g0173 a0002c0017t0001g0189 a0002c0017t0004g0158 a0002c0023t0002g0151 a0002c0023t0002g0159 a0002c0028t0002g0110 a0002c0028t0004g0119 a0002c0029t0001g0132 a0002c0029t0014g0020 a0002c0030t0008g0121 a0002c0030t0011g0128 a0002c0031t0001g0061 a0002c0031t0004g0051 a0002c0042t0001g0145 a0002c0043t0014g0193 a0002c0057t0004g0032 a0002c0058t0002g0068 a0002c0059t0001g0002 a0002c0060t0001g0091 a0002c0063t0004g0058 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0244 a0003c0003t0001g0246 a0003c0003t0001g0254 a0003c0003t0001g0258 a0003c0003t0001g0261 a0003c0003t0001g0268 a0003c0003t0001g0274 a0003c0003t0002g0237 a0003c0003t0002g0269 a0003c0003t0004g0240 a0003c0003t0004g0253 a0003c0003t0004g0267 a0003c0095t0001g0239 a0003c0096t0002g0248 a0003c0097t0021g0227 a0003c0098t0004g0272 a0003c0105t0012g0209 a0003c0106t0002g0210 a0003c0107t0011g0212 a0003c0108t0008g0207 a0003c0109t0012g0203 a0006c0009t0003g0027 a0006c0009t0003g0037 a0006c0009t0003g0078 a0006c0009t0003g0079 a0006c0009t0005g0043 a0006c0009t0005g0109 a0006c0011t0003g0153 a0006c0011t0003g0168 a0006c0011t0003g0174 a0006c0011t0003g0184 a0006c0011t0003g0185 a0006c0044t0003g0165 a0006c0056t0003g0106 a0006c0061t0003g0039 a0006c0062t0003g0104 a0007c0005t0003g0222 a0007c0005t0003g0229 a0007c0005t0003g0247 a0007c0005t0003g0250 a0007c0005t0003g0260 a0007c0005t0003g0263 a0007c0005t0003g0264 a0007c0005t0003g0273 a0007c0005t0009g0242 a0010c0036t0004g0063 a0010c0036t0007g0035 a0010c0053t0007g0147 a0010c0078t0001g0017 a0010c0079t0011g0018 a0011c0020t0003g0047 a0011c0020t0003g0096 a0011c0020t0003g0124 a0014c0038t0002g0219 a0014c0038t0019g0213 a0016c0025t0001g0101 a0016c0025t0001g0127 a0017c0027t0004g0040 a0017c0027t0004g0098 a0019c0083t0001g0199 a0019c0084t0008g0198 a0021c0088t0003g0214 a0023c0090t0016g0215 a0026c0093t0001g0271 a0027c0094t0003g0266 a0029c0104t0027g0221 a0030c0085t0002g0202 a0032c0045t0003g0171	135	276	0.4891	c.733 others(3): Show c.733G>A	p.Val others(6): Show p.Val245Ile	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	4/22	866/6783	733/3636	245/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179207682	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00597.hp2 HG00621.hp2 others(14): Show HG00408.hp1 HG00597.hp2 HG00621.hp2 HG00735.hp2 HG01952.hp2 HG02004.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 NA18612.hp2 NA18945.hp2 NA18947.hp1 NA18957.hp1 NA18971.hp2 NA18981.hp1 NA18984.hp2 NA19064.hp2	a0009 a0011 a0012 others(4): Show a0009 a0011 a0012 a0016 a0021 a0022 a0026	a0009c0021 a0009c0026 a0009c0041 others(8): Show a0009c0021 a0009c0026 a0009c0041 a0011c0020 a0012c0040 a0012c0054 a0012c0055 a0016c0025 a0021c0088 a0022c0089 a0026c0093	a0009c0021t0003 a0009c0021t0009 a0009c0021t0018 others(10): Show a0009c0021t0003 a0009c0021t0009 a0009c0021t0018 a0009c0026t0003 a0009c0041t0003 a0011c0020t0003 a0012c0040t0001 a0012c0054t0001 a0012c0055t0001 a0016c0025t0001 a0021c0088t0003 a0022c0089t0006 a0026c0093t0001	a0009c0021t0003g0016 a0009c0021t0009g0093 a0009c0021t0018g0116 others(14): Show a0009c0021t0003g0016 a0009c0021t0009g0093 a0009c0021t0018g0116 a0009c0026t0003g0137 a0009c0026t0003g0138 a0009c0041t0003g0164 a0011c0020t0003g0047 a0011c0020t0003g0096 a0011c0020t0003g0124 a0012c0040t0001g0169 a0012c0054t0001g0045 a0012c0055t0001g0019 a0016c0025t0001g0101 a0016c0025t0001g0127 a0021c0088t0003g0214 a0022c0089t0006g0217 a0026c0093t0001g0271	17	276	0.0616	c.722 others(3): Show c.722G>A	p.Arg others(6): Show p.Arg241His	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	4/22	855/6783	722/3636	241/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179207703	T T	C C	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02922.hp2 HG02970.hp1 others(6): Show HG02280.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 NA18522.hp1 NA19030.hp2	a0010 a0013 a0029 a0010 a0013 a0029	a0010c0036 a0010c0053 a0010c0078 others(4): Show a0010c0036 a0010c0053 a0010c0078 a0010c0079 a0013c0037 a0013c0080 a0029c0104	a0010c0036t0004 a0010c0036t0007 a0010c0053t0007 others(5): Show a0010c0036t0004 a0010c0036t0007 a0010c0053t0007 a0010c0078t0001 a0010c0079t0011 a0013c0037t0001 a0013c0080t0012 a0029c0104t0027	a0010c0036t0004g0063 a0010c0036t0007g0035 a0010c0053t0007g0147 others(6): Show a0010c0036t0004g0063 a0010c0036t0007g0035 a0010c0053t0007g0147 a0010c0078t0001g0017 a0010c0079t0011g0018 a0013c0037t0001g0048 a0013c0037t0001g0130 a0013c0080t0012g0192 a0029c0104t0027g0221	9	276	0.0326	c.701 others(3): Show c.701A>G	p.Asp others(6): Show p.Asp234Gly	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	4/22	834/6783	701/3636	234/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179207715	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0036 a0036	a0036c0081 a0036c0081	a0036c0081t0028 a0036c0081t0028	a0036c0081t0028g0053 a0036c0081t0028g0053	1	276	0.0036	c.689 others(3): Show c.689G>T	p.Gly others(6): Show p.Gly230Val	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	4/22	822/6783	689/3636	230/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179344081	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 HG03669.hp1 NA18952.hp1 others(4): Show HG00408.hp1 HG03669.hp1 NA18952.hp1 NA18954.hp1 NA18971.hp2 NA18982.hp1 NA19070.hp1	a0014 a0021 a0022 others(3): Show a0014 a0021 a0022 a0023 a0024 a0025	a0014c0038 a0021c0088 a0022c0089 others(3): Show a0014c0038 a0021c0088 a0022c0089 a0023c0090 a0024c0092 a0025c0091	a0014c0038t0002 a0014c0038t0019 a0021c0088t0003 others(4): Show a0014c0038t0002 a0014c0038t0019 a0021c0088t0003 a0022c0089t0006 a0023c0090t0016 a0024c0092t0004 a0025c0091t0002	a0014c0038t0002g0219 a0014c0038t0019g0213 a0021c0088t0003g0214 others(4): Show a0014c0038t0002g0219 a0014c0038t0019g0213 a0021c0088t0003g0214 a0022c0089t0006g0217 a0023c0090t0016g0215 a0024c0092t0004g0216 a0025c0091t0002g0218	7	276	0.0254	c.220 others(3): Show c.220G>A	p.Val others(5): Show p.Val74Met	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/22	353/6783	220/3636	74/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179345235	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02976.hp2 HG02258.hp2 HG02976.hp2	a0019 a0019	a0019c0083 a0019c0084 a0019c0083 a0019c0084	a0019c0083t0001 a0019c0084t0008 a0019c0083t0001 a0019c0084t0008	a0019c0083t0001g0199 a0019c0084t0008g0198 a0019c0083t0001g0199 a0019c0084t0008g0198	2	276	0.0073	c.94C others(2): Show c.94C>T	p.Pro others(5): Show p.Pro32Ser	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	1/22	227/6783	94/3636	32/1211	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179345258	G G	A A	missense_variant missense_variant	MODERATE	HG02886.hp2 HG02886.hp2	a0020 a0020	a0020c0113 a0020c0113	a0020c0113t0029 a0020c0113t0029	a0020c0113t0029g0276 a0020c0113t0029g0276	1	276	0.0036	c.71C others(2): Show c.71C>T	p.Pro others(5): Show p.Pro24Leu	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	1/22	204/6783	71/3636	24/1211	chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72283311	G G	A A	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02976.hp2 HG02965.hp1 HG02976.hp2	a0006 a0009 a0006 a0009	a0006c0016 a0009c0014 a0006c0016 a0009c0014	a0006c0016t0021 a0009c0014t0031 a0006c0016t0021 a0009c0014t0031	a0006c0016t0021g0029 a0009c0014t0031g0074 a0006c0016t0021g0029 a0009c0014t0031g0074	2	182	0.0110	c.344 others(4): Show c.3443C>T	p.Pro others(7): Show p.Pro1148Leu	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	22/22	3902/6244	3443/3618	1148/1205	chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72283534	A A	G G	missense_variant missense_variant	MODERATE	HG01243.hp2 HG01884.hp1 HG02486.hp2 others(4): Show HG01243.hp2 HG01884.hp1 HG02486.hp2 HG02615.hp1 HG02809.hp2 HG02886.hp2 HG06807.hp2	a0003 a0003	a0003c0005 a0003c0007 a0003c0008 a0003c0005 a0003c0007 a0003c0008	a0003c0005t0006 a0003c0005t0024 a0003c0007t0006 others(3): Show a0003c0005t0006 a0003c0005t0024 a0003c0007t0006 a0003c0007t0012 a0003c0008t0006 a0003c0008t0025	a0003c0005t0006g0076 a0003c0005t0006g0151 a0003c0005t0024g0023 others(4): Show a0003c0005t0006g0076 a0003c0005t0006g0151 a0003c0005t0024g0023 a0003c0007t0006g0165 a0003c0007t0012g0003 a0003c0008t0006g0158 a0003c0008t0025g0028	7	182	0.0385	c.322 others(4): Show c.3220T>C	p.Ser others(7): Show p.Ser1074Pro	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	22/22	3679/6244	3220/3618	1074/1205	chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72304051	T T	C C	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01109.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0088 a0007c0013t0001g0088	1	182	0.0055	c.229 others(4): Show c.2290A>G	p.Ile others(6): Show p.Ile764Val	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	17/22	2749/6244	2290/3618	764/1205	chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72312448	C C	A A	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0018 a0005c0018t0018	a0005c0018t0018g0031 a0005c0018t0018g0031	1	182	0.0055	c.176 others(4): Show c.1764G>T	p.Gln others(6): Show p.Gln588His	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	13/22	2223/6244	1764/3618	588/1205	chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72312458	T T	C C	missense_variant missense_variant	MODERATE	HG01071.hp1 HG01071.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0119 a0008c0019t0001g0119	1	182	0.0055	c.175 others(4): Show c.1754A>G	p.Asn others(6): Show p.Asn585Ser	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	13/22	2213/6244	1754/3618	585/1205	chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72323067	C C	T T	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0031 a0009c0014t0031	a0009c0014t0031g0074 a0009c0014t0031g0074	1	182	0.0055	c.892 others(3): Show c.892G>A	p.Gly others(6): Show p.Gly298Arg	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	6/22	1351/6244	892/3618	298/1205	chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72414821	A A	G G	missense_variant missense_variant	MODERATE	HG02071.hp2 HG02071.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0003 a0004c0010t0003	a0004c0010t0003g0039 a0004c0010t0003g0039	1	182	0.0055	c.655 others(3): Show c.655T>C	p.Tyr others(6): Show p.Tyr219His	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/22	1114/6244	655/3618	219/1205	chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72548569	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00408.hp2 HG00609.hp2 others(134): Show HG00140.hp2 HG00408.hp2 HG00609.hp2 HG00639.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG02004.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0003 a0001c0004 others(14): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0011 a0001c0012 a0001c0015 a0001c0017 a0003c0005 a0003c0007 a0003c0008 a0004c0010 a0005c0018 a0006c0016 a0007c0013 a0008c0019 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0015 a0001c0004t0008 a0001c0004t0022 a0001c0006t0001 a0001c0006t0005 a0001c0011t0001 a0001c0012t0001 a0001c0015t0009 a0001c0017t0001 a0003c0005t0006 a0003c0005t0024 a0003c0007t0006 a0003c0007t0012 a0003c0008t0006 a0003c0008t0025 a0004c0010t0003 a0005c0018t0018 a0006c0016t0021 a0007c0013t0001 a0008c0019t0001 a0009c0014t0031	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 others(134): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0036 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0062 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0004g0178 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0016 a0001c0001t0007g0082 a0001c0001t0007g0179 a0001c0001t0010g0001 a0001c0001t0011g0002 a0001c0001t0013g0004 a0001c0001t0014g0005 a0001c0001t0016g0013 a0001c0001t0017g0041 a0001c0001t0019g0033 a0001c0001t0020g0047 a0001c0001t0023g0064 a0001c0001t0026g0162 a0001c0001t0028g0145 a0001c0001t0029g0160 a0001c0001t0030g0181 a0001c0001t0032g0148 a0001c0003t0001g0090 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0161 a0001c0003t0001g0168 a0001c0003t0001g0177 a0001c0003t0001g0180 a0001c0003t0003g0022 a0001c0003t0004g0159 a0001c0003t0007g0094 a0001c0003t0015g0006 a0001c0004t0008g0017 a0001c0004t0008g0018 a0001c0004t0022g0035 a0001c0006t0001g0154 a0001c0006t0001g0157 a0001c0006t0005g0007 a0001c0011t0001g0081 a0001c0012t0001g0080 a0001c0015t0009g0086 a0001c0017t0001g0098 a0003c0005t0006g0076 a0003c0005t0006g0151 a0003c0005t0024g0023 a0003c0007t0006g0165 a0003c0007t0012g0003 a0003c0008t0006g0158 a0003c0008t0025g0028 a0004c0010t0003g0039 a0005c0018t0018g0031 a0006c0016t0021g0029 a0007c0013t0001g0088 a0008c0019t0001g0119 a0009c0014t0031g0074	137	182	0.7528	c.413 others(3): Show c.413G>A	p.Arg others(6): Show p.Arg138Lys	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/22	872/6244	413/3618	138/1205	chr4	TogoVar
ADAMTS4_chr1_161179302_161204054	161191307	G G	T T	missense_variant missense_variant	MODERATE	NA19007.hp1 NA19007.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0013 a0011c0014t0013	a0011c0014t0013g0069 a0011c0014t0013g0069	1	374	0.0027	c.234 others(4): Show c.2345C>A	p.Thr others(6): Show p.Thr782Lys	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	9/9	2772/9777	2345/2514	782/837	chr1	TogoVar
ADAMTS4_chr1_161179302_161204054	161191383	C C	G G	missense_variant missense_variant	MODERATE	NA18963.hp1 NA18963.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0208 a0010c0018t0208	a0010c0018t0208g0222 a0010c0018t0208g0222	1	374	0.0027	c.226 others(4): Show c.2269G>C	p.Val others(6): Show p.Val757Leu	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	9/9	2696/9777	2269/2514	757/837	chr1	TogoVar
ADAMTS4_chr1_161179302_161204054	161191484	C C	T T	missense_variant missense_variant	MODERATE	NA18993.hp1 NA18993.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0144 a0009c0013t0144	a0009c0013t0144g0068 a0009c0013t0144g0068	1	374	0.0027	c.216 others(4): Show c.2168G>A	p.Arg others(6): Show p.Arg723Gln	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	9/9	2595/9777	2168/2514	723/837	chr1	TogoVar
ADAMTS4_chr1_161179302_161204054	161191494	G G	C C	missense_variant missense_variant	MODERATE	HG01106.hp1 HG01109.hp1 HG01243.hp1 others(40): Show HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01433.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02615.hp1 HG02683.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03209.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 NA18747.hp1 NA18943.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18969.hp1 NA18972.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18997.hp2 NA19003.hp2 NA19011.hp1 NA19064.hp2 NA19065.hp1 NA19082.hp1 NA19086.hp1 NA19091.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0003 a0013 a0003 a0013	a0003c0004 a0003c0007 a0003c0015 others(2): Show a0003c0004 a0003c0007 a0003c0015 a0003c0019 a0013c0011	a0003c0004t0012 a0003c0004t0016 a0003c0004t0030 others(29): Show a0003c0004t0012 a0003c0004t0016 a0003c0004t0030 a0003c0004t0031 a0003c0004t0032 a0003c0004t0033 a0003c0004t0034 a0003c0004t0064 a0003c0004t0065 a0003c0004t0066 a0003c0004t0067 a0003c0004t0068 a0003c0004t0069 a0003c0004t0070 a0003c0004t0071 a0003c0004t0072 a0003c0004t0073 a0003c0004t0074 a0003c0004t0075 a0003c0004t0076 a0003c0004t0077 a0003c0004t0078 a0003c0004t0079 a0003c0004t0082 a0003c0004t0083 a0003c0004t0092 a0003c0007t0017 a0003c0007t0080 a0003c0007t0081 a0003c0015t0093 a0003c0019t0094 a0013c0011t0017	a0003c0004t0012g0009 a0003c0004t0016g0022 a0003c0004t0030g0044 others(29): Show a0003c0004t0012g0009 a0003c0004t0016g0022 a0003c0004t0030g0044 a0003c0004t0031g0045 a0003c0004t0032g0046 a0003c0004t0033g0050 a0003c0004t0034g0047 a0003c0004t0064g0233 a0003c0004t0065g0234 a0003c0004t0066g0212 a0003c0004t0067g0213 a0003c0004t0068g0214 a0003c0004t0069g0215 a0003c0004t0070g0216 a0003c0004t0071g0217 a0003c0004t0072g0235 a0003c0004t0073g0236 a0003c0004t0074g0237 a0003c0004t0075g0238 a0003c0004t0076g0239 a0003c0004t0077g0218 a0003c0004t0078g0240 a0003c0004t0079g0249 a0003c0004t0082g0241 a0003c0004t0083g0242 a0003c0004t0092g0219 a0003c0007t0017g0048 a0003c0007t0080g0220 a0003c0007t0081g0221 a0003c0015t0093g0146 a0003c0019t0094g0244 a0013c0011t0017g0060	43	374	0.1150	c.215 others(4): Show c.2158C>G	p.Pro others(6): Show p.Pro720Ala	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	9/9	2585/9777	2158/2514	720/837	chr1	TogoVar
ADAMTS4_chr1_161179302_161204054	161193247	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(294): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0013 a0014	a0001c0001 a0001c0002 a0001c0006 others(13): Show a0001c0001 a0001c0002 a0001c0006 a0003c0004 a0003c0007 a0003c0015 a0003c0019 a0004c0005 a0005c0009 a0006c0008 a0008c0012 a0009c0013 a0010c0018 a0011c0014 a0013c0011 a0014c0021	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(206): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0058 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0170 a0001c0001t0171 a0001c0002t0004 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0015 a0001c0002t0029 a0001c0002t0043 a0001c0002t0047 a0001c0002t0052 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0097 a0001c0002t0125 a0001c0002t0137 a0001c0002t0155 a0001c0002t0168 a0001c0002t0169 a0001c0002t0172 a0001c0002t0173 a0001c0002t0174 a0001c0002t0175 a0001c0002t0176 a0001c0002t0177 a0001c0002t0178 a0001c0002t0180 a0001c0002t0181 a0001c0002t0182 a0001c0002t0184 a0001c0002t0185 a0001c0002t0186 a0001c0002t0187 a0001c0002t0188 a0001c0002t0189 a0001c0002t0190 a0001c0002t0191 a0001c0002t0192 a0001c0002t0193 a0001c0002t0194 a0001c0002t0195 a0001c0002t0196 a0001c0002t0197 a0001c0002t0198 a0001c0002t0199 a0001c0002t0200 a0001c0002t0201 a0001c0002t0202 a0001c0002t0203 a0001c0002t0204 a0001c0002t0205 a0001c0002t0206 a0001c0002t0207 a0001c0002t0209 a0001c0002t0210 a0001c0002t0211 a0001c0006t0013 a0001c0006t0023 a0001c0006t0039 a0001c0006t0041 a0001c0006t0096 a0003c0004t0012 a0003c0004t0016 a0003c0004t0030 a0003c0004t0031 a0003c0004t0032 a0003c0004t0033 a0003c0004t0034 a0003c0004t0064 a0003c0004t0065 a0003c0004t0066 a0003c0004t0067 a0003c0004t0068 a0003c0004t0069 a0003c0004t0070 a0003c0004t0071 a0003c0004t0072 a0003c0004t0073 a0003c0004t0074 a0003c0004t0075 a0003c0004t0076 a0003c0004t0077 a0003c0004t0078 a0003c0004t0079 a0003c0004t0082 a0003c0004t0083 a0003c0004t0092 a0003c0007t0017 a0003c0007t0080 a0003c0007t0081 a0003c0015t0093 a0003c0019t0094 a0004c0005t0019 a0004c0005t0037 a0004c0005t0038 a0004c0005t0098 a0004c0005t0099 a0004c0005t0100 a0004c0005t0101 a0004c0005t0102 a0004c0005t0103 a0004c0005t0104 a0004c0005t0105 a0004c0005t0136 a0005c0009t0051 a0005c0009t0183 a0006c0008t0006 a0006c0008t0007 a0006c0008t0048 a0008c0012t0007 a0009c0013t0144 a0010c0018t0208 a0011c0014t0013 a0013c0011t0017 a0014c0021t0004	a0001c0001t0005g0067 a0001c0001t0006g0006 a0001c0001t0006g0141 others(222): Show a0001c0001t0005g0067 a0001c0001t0006g0006 a0001c0001t0006g0141 a0001c0001t0007g0016 a0001c0001t0009g0130 a0001c0001t0013g0094 a0001c0001t0020g0011 a0001c0001t0021g0012 a0001c0001t0022g0026 a0001c0001t0022g0139 a0001c0001t0023g0028 a0001c0001t0024g0013 a0001c0001t0025g0014 a0001c0001t0026g0015 a0001c0001t0027g0017 a0001c0001t0028g0031 a0001c0001t0028g0147 a0001c0001t0039g0075 a0001c0001t0040g0025 a0001c0001t0041g0076 a0001c0001t0042g0027 a0001c0001t0043g0140 a0001c0001t0044g0066 a0001c0001t0044g0097 a0001c0001t0045g0029 a0001c0001t0046g0030 a0001c0001t0047g0105 a0001c0001t0048g0142 a0001c0001t0049g0064 a0001c0001t0049g0117 a0001c0001t0050g0032 a0001c0001t0058g0129 a0001c0001t0106g0070 a0001c0001t0107g0071 a0001c0001t0108g0072 a0001c0001t0109g0073 a0001c0001t0110g0074 a0001c0001t0111g0077 a0001c0001t0112g0137 a0001c0001t0113g0078 a0001c0001t0114g0079 a0001c0001t0115g0080 a0001c0001t0116g0081 a0001c0001t0117g0138 a0001c0001t0118g0082 a0001c0001t0119g0083 a0001c0001t0120g0084 a0001c0001t0121g0085 a0001c0001t0122g0086 a0001c0001t0123g0087 a0001c0001t0124g0063 a0001c0001t0126g0088 a0001c0001t0127g0089 a0001c0001t0128g0090 a0001c0001t0129g0091 a0001c0001t0130g0092 a0001c0001t0131g0093 a0001c0001t0132g0095 a0001c0001t0133g0096 a0001c0001t0134g0098 a0001c0001t0135g0099 a0001c0001t0138g0100 a0001c0001t0139g0101 a0001c0001t0140g0102 a0001c0001t0141g0103 a0001c0001t0142g0104 a0001c0001t0143g0106 a0001c0001t0145g0107 a0001c0001t0146g0108 a0001c0001t0147g0109 a0001c0001t0148g0110 a0001c0001t0149g0111 a0001c0001t0150g0112 a0001c0001t0151g0113 a0001c0001t0152g0114 a0001c0001t0153g0115 a0001c0001t0154g0116 a0001c0001t0156g0118 a0001c0001t0157g0119 a0001c0001t0158g0143 a0001c0001t0159g0120 a0001c0001t0160g0144 a0001c0001t0161g0121 a0001c0001t0162g0122 a0001c0001t0163g0123 a0001c0001t0164g0124 a0001c0001t0165g0125 a0001c0001t0166g0126 a0001c0001t0167g0145 a0001c0001t0170g0127 a0001c0001t0171g0128 a0001c0002t0004g0004 a0001c0002t0004g0203 a0001c0002t0008g0008 a0001c0002t0008g0211 a0001c0002t0009g0020 a0001c0002t0009g0167 a0001c0002t0010g0021 a0001c0002t0010g0049 a0001c0002t0011g0007 a0001c0002t0014g0018 a0001c0002t0014g0173 a0001c0002t0015g0040 a0001c0002t0015g0201 a0001c0002t0015g0209 a0001c0002t0029g0019 a0001c0002t0043g0178 a0001c0002t0047g0225 a0001c0002t0052g0038 a0001c0002t0053g0161 a0001c0002t0053g0183 a0001c0002t0054g0042 a0001c0002t0055g0043 a0001c0002t0056g0193 a0001c0002t0056g0208 a0001c0002t0057g0039 a0001c0002t0058g0194 a0001c0002t0059g0041 a0001c0002t0060g0198 a0001c0002t0060g0210 a0001c0002t0061g0199 a0001c0002t0061g0230 a0001c0002t0062g0223 a0001c0002t0097g0245 a0001c0002t0125g0159 a0001c0002t0137g0224 a0001c0002t0155g0160 a0001c0002t0168g0248 a0001c0002t0169g0246 a0001c0002t0172g0226 a0001c0002t0173g0204 a0001c0002t0174g0169 a0001c0002t0175g0170 a0001c0002t0176g0171 a0001c0002t0177g0172 a0001c0002t0178g0179 a0001c0002t0180g0180 a0001c0002t0181g0181 a0001c0002t0182g0182 a0001c0002t0184g0184 a0001c0002t0185g0185 a0001c0002t0186g0186 a0001c0002t0187g0187 a0001c0002t0188g0188 a0001c0002t0189g0166 a0001c0002t0190g0174 a0001c0002t0191g0189 a0001c0002t0192g0190 a0001c0002t0193g0191 a0001c0002t0194g0205 a0001c0002t0195g0206 a0001c0002t0196g0175 a0001c0002t0197g0192 a0001c0002t0198g0207 a0001c0002t0199g0202 a0001c0002t0200g0195 a0001c0002t0201g0196 a0001c0002t0202g0197 a0001c0002t0203g0227 a0001c0002t0204g0228 a0001c0002t0205g0229 a0001c0002t0206g0231 a0001c0002t0207g0200 a0001c0002t0209g0168 a0001c0002t0210g0243 a0001c0002t0211g0232 a0001c0006t0013g0033 a0001c0006t0023g0133 a0001c0006t0039g0131 a0001c0006t0041g0132 a0001c0006t0096g0065 a0003c0004t0012g0009 a0003c0004t0016g0022 a0003c0004t0030g0044 a0003c0004t0031g0045 a0003c0004t0032g0046 a0003c0004t0033g0050 a0003c0004t0034g0047 a0003c0004t0064g0233 a0003c0004t0065g0234 a0003c0004t0066g0212 a0003c0004t0067g0213 a0003c0004t0068g0214 a0003c0004t0069g0215 a0003c0004t0070g0216 a0003c0004t0071g0217 a0003c0004t0072g0235 a0003c0004t0073g0236 a0003c0004t0074g0237 a0003c0004t0075g0238 a0003c0004t0076g0239 a0003c0004t0077g0218 a0003c0004t0078g0240 a0003c0004t0079g0249 a0003c0004t0082g0241 a0003c0004t0083g0242 a0003c0004t0092g0219 a0003c0007t0017g0048 a0003c0007t0080g0220 a0003c0007t0081g0221 a0003c0015t0093g0146 a0003c0019t0094g0244 a0004c0005t0019g0010 a0004c0005t0037g0024 a0004c0005t0038g0023 a0004c0005t0098g0055 a0004c0005t0099g0056 a0004c0005t0100g0057 a0004c0005t0101g0058 a0004c0005t0102g0052 a0004c0005t0103g0053 a0004c0005t0104g0054 a0004c0005t0105g0061 a0004c0005t0136g0059 a0005c0009t0051g0051 a0005c0009t0183g0250 a0006c0008t0006g0134 a0006c0008t0007g0135 a0006c0008t0048g0136 a0008c0012t0007g0062 a0009c0013t0144g0068 a0010c0018t0208g0222 a0011c0014t0013g0069 a0013c0011t0017g0060 a0014c0021t0004g0251	297	374	0.7941	c.187 others(4): Show c.1877A>G	p.Gln others(6): Show p.Gln626Arg	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	7/9	2304/9777	1877/2514	626/837	chr1	TogoVar
ADAMTS4_chr1_161179302_161204054	161193676	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02717.hp2 HG03453.hp1 HG01884.hp1 HG02717.hp2 HG03453.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0006 a0006c0008t0007 a0006c0008t0048 a0006c0008t0006 a0006c0008t0007 a0006c0008t0048	a0006c0008t0006g0134 a0006c0008t0007g0135 a0006c0008t0048g0136 a0006c0008t0006g0134 a0006c0008t0007g0135 a0006c0008t0048g0136	3	374	0.0080	c.169 others(4): Show c.1699C>T	p.Arg others(6): Show p.Arg567Cys	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	6/9	2126/9777	1699/2514	567/837	chr1	TogoVar
ADAMTS4_chr1_161179302_161204054	161194195	C C	T T	missense_variant missense_variant	MODERATE	HG03927.hp2 HG03927.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0149 a0012c0017t0001g0149	1	374	0.0027	c.128 others(4): Show c.1288G>A	p.Ala others(6): Show p.Ala430Thr	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	5/9	1715/9777	1288/2514	430/837	chr1	TogoVar
ADAMTS4_chr1_161179302_161204054	161198161	C C	T T	missense_variant missense_variant	MODERATE	NA19091.hp2 NA19091.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0007 a0008c0012t0007	a0008c0012t0007g0062 a0008c0012t0007g0062	1	374	0.0027	c.467 others(3): Show c.467G>A	p.Arg others(6): Show p.Arg156Gln	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	1/9	894/9777	467/2514	156/837	chr1	TogoVar
ADAMTS4_chr1_161179302_161204054	161198191	C C	T T	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01106.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0002 a0007c0016t0002	a0007c0016t0002g0148 a0007c0016t0002g0148	1	374	0.0027	c.437 others(3): Show c.437G>A	p.Gly others(6): Show p.Gly146Glu	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	1/9	864/9777	437/2514	146/837	chr1	TogoVar

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