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
ADAMTS15_chr11_130443645_130481645	130461535	T T	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.100 others(4): Show c.1004T>C	p.Val others(6): Show p.Val335Ala	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1333/6006	1004/2853	335/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461537	G G	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.100 others(4): Show c.1006G>C	p.Gly others(6): Show p.Gly336Arg	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1335/6006	1006/2853	336/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461538	G G	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.100 others(4): Show c.1007G>C	p.Gly others(6): Show p.Gly336Ala	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1336/6006	1007/2853	336/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461540	A A	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.100 others(4): Show c.1009A>C	p.Thr others(6): Show p.Thr337Pro	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1338/6006	1009/2853	337/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461543	A A	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.101 others(4): Show c.1012A>C	p.Met others(6): Show p.Met338Leu	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1341/6006	1012/2853	338/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461544	T T	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.101 others(4): Show c.1013T>C	p.Met others(6): Show p.Met338Thr	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1342/6006	1013/2853	338/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461545	G G	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.101 others(4): Show c.1014G>C	p.Met others(6): Show p.Met338Ile	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1343/6006	1014/2853	338/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461546	T T	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.101 others(4): Show c.1015T>C	p.Cys others(6): Show p.Cys339Arg	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1344/6006	1015/2853	339/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461547	G G	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.101 others(4): Show c.1016G>C	p.Cys others(6): Show p.Cys339Ser	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1345/6006	1016/2853	339/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461549	G G	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.101 others(4): Show c.1018G>C	p.Asp others(6): Show p.Asp340His	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1347/6006	1018/2853	340/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461550	A A	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.101 others(4): Show c.1019A>C	p.Asp others(6): Show p.Asp340Ala	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1348/6006	1019/2853	340/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461555	A A	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.102 others(4): Show c.1024A>C	p.Lys others(6): Show p.Lys342Gln	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1353/6006	1024/2853	342/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461556	A A	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.102 others(4): Show c.1025A>C	p.Lys others(6): Show p.Lys342Thr	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1354/6006	1025/2853	342/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461557	G G	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.102 others(4): Show c.1026G>C	p.Lys others(6): Show p.Lys342Asn	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1355/6006	1026/2853	342/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461559	G G	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.102 others(4): Show c.1028G>C	p.Arg others(6): Show p.Arg343Thr	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1357/6006	1028/2853	343/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461607	C C	G G	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.107 others(4): Show c.1076C>G	p.Thr others(6): Show p.Thr359Ser	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1405/6006	1076/2853	359/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130461609	G G	C C	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0002 a0010c0039t0002	a0010c0039t0002g0291 a0010c0039t0002g0291	1	398	0.0025	c.107 others(4): Show c.1078G>C	p.Ala others(6): Show p.Ala360Pro	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	2/8	1407/6006	1078/2853	360/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130462248	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0003 a0017c0025t0003	a0017c0025t0003g0100 a0017c0025t0003g0100	1	398	0.0025	c.125 others(4): Show c.1252G>A	p.Gly others(6): Show p.Gly418Arg	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	3/8	1581/6006	1252/2853	418/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130462562	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00738.hp1 HG01123.hp1 others(8): Show HG00639.hp1 HG00738.hp1 HG01123.hp1 HG01243.hp1 HG01928.hp2 HG01993.hp1 HG01993.hp2 HG02148.hp1 HG02293.hp1 HG02300.hp2 HG04228.hp2	a0003 a0003	a0003c0005 a0003c0040 a0003c0005 a0003c0040	a0003c0005t0001 a0003c0005t0002 a0003c0040t0002 a0003c0005t0001 a0003c0005t0002 a0003c0040t0002	a0003c0005t0001g0001 a0003c0005t0001g0015 a0003c0005t0001g0017 others(6): Show a0003c0005t0001g0001 a0003c0005t0001g0015 a0003c0005t0001g0017 a0003c0005t0001g0251 a0003c0005t0001g0254 a0003c0005t0001g0297 a0003c0005t0002g0015 a0003c0005t0002g0232 a0003c0040t0002g0256	11	398	0.0276	c.132 others(4): Show c.1324T>C	p.Tyr others(6): Show p.Tyr442His	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	4/8	1653/6006	1324/2853	442/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130462770	A A	G G	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02109.hp2 HG02818.hp2 others(2): Show HG02055.hp1 HG02109.hp2 HG02818.hp2 HG02886.hp1 HG03225.hp1	a0007 a0009 a0016 a0007 a0009 a0016	a0007c0013 a0009c0020 a0016c0036 a0007c0013 a0009c0020 a0016c0036	a0007c0013t0005 a0009c0020t0012 a0016c0036t0012 a0007c0013t0005 a0009c0020t0012 a0016c0036t0012	a0007c0013t0005g0096 a0007c0013t0005g0099 a0007c0013t0005g0302 others(2): Show a0007c0013t0005g0096 a0007c0013t0005g0099 a0007c0013t0005g0302 a0009c0020t0012g0343 a0016c0036t0012g0199	5	398	0.0126	c.153 others(4): Show c.1532A>G	p.Asn others(6): Show p.Asn511Ser	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	4/8	1861/6006	1532/2853	511/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130469278	C C	G G	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0015 a0015	a0015c0035 a0015c0035	a0015c0035t0005 a0015c0035t0005	a0015c0035t0005g0310 a0015c0035t0005g0310	1	398	0.0025	c.155 others(4): Show c.1559C>G	p.Ala others(6): Show p.Ala520Gly	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/8	1888/6006	1559/2853	520/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130469325	G G	A A	missense_variant missense_variant	MODERATE	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0021 a0008c0016t0021	a0008c0016t0021g0019 a0008c0016t0021g0019	2	398	0.0050	c.160 others(4): Show c.1606G>A	p.Val others(6): Show p.Val536Met	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/8	1935/6006	1606/2853	536/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130470922	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18995.hp1 NA18995.hp1	a0011 a0011	a0011c0032 a0011c0032	a0011c0032t0009 a0011c0032t0009	a0011c0032t0009g0301 a0011c0032t0009g0301	1	398	0.0025	c.172 others(4): Show c.1723T>G	p.Ser others(6): Show p.Ser575Ala	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	6/8	2052/6006	1723/2853	575/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130471067	A A	G G	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00544.hp2 HG00609.hp1 others(47): Show HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01256.hp1 HG01346.hp1 HG01975.hp2 HG02027.hp1 HG02040.hp1 HG02080.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp2 NA18939.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18991.hp1 NA18993.hp2 NA18998.hp2 NA19003.hp1 NA19004.hp2 NA19010.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2	a0002 a0019 a0002 a0019	a0002c0003 a0002c0004 a0002c0009 others(2): Show a0002c0003 a0002c0004 a0002c0009 a0002c0018 a0019c0024	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(11): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0009 a0002c0003t0010 a0002c0003t0023 a0002c0003t0030 a0002c0003t0031 a0002c0004t0001 a0002c0004t0002 a0002c0004t0011 a0002c0009t0002 a0002c0018t0002 a0019c0024t0001	a0002c0003t0001g0006 a0002c0003t0001g0190 a0002c0003t0001g0240 others(44): Show a0002c0003t0001g0006 a0002c0003t0001g0190 a0002c0003t0001g0240 a0002c0003t0001g0243 a0002c0003t0001g0248 a0002c0003t0001g0304 a0002c0003t0001g0307 a0002c0003t0002g0001 a0002c0003t0002g0003 a0002c0003t0002g0059 a0002c0003t0002g0210 a0002c0003t0002g0220 a0002c0003t0002g0273 a0002c0003t0002g0306 a0002c0003t0004g0007 a0002c0003t0004g0046 a0002c0003t0004g0077 a0002c0003t0004g0191 a0002c0003t0004g0250 a0002c0003t0009g0002 a0002c0003t0009g0227 a0002c0003t0009g0229 a0002c0003t0010g0241 a0002c0003t0010g0245 a0002c0003t0010g0271 a0002c0003t0010g0272 a0002c0003t0010g0292 a0002c0003t0023g0206 a0002c0003t0030g0207 a0002c0003t0031g0003 a0002c0004t0001g0057 a0002c0004t0001g0208 a0002c0004t0002g0009 a0002c0004t0002g0011 a0002c0004t0002g0124 a0002c0004t0002g0135 a0002c0004t0002g0187 a0002c0004t0002g0195 a0002c0004t0002g0284 a0002c0004t0011g0144 a0002c0009t0002g0081 a0002c0009t0002g0237 a0002c0009t0002g0300 a0002c0009t0002g0305 a0002c0018t0002g0154 a0002c0018t0002g0164 a0019c0024t0001g0287	50	398	0.1256	c.186 others(4): Show c.1868A>G	p.Asn others(6): Show p.Asn623Ser	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	6/8	2197/6006	1868/2853	623/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130473283	C C	T T	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0005 a0006c0012t0005	a0006c0012t0005g0193 a0006c0012t0005g0269 a0006c0012t0005g0341 a0006c0012t0005g0193 a0006c0012t0005g0269 a0006c0012t0005g0341	3	398	0.0075	c.231 others(4): Show c.2315C>T	p.Ser others(6): Show p.Ser772Phe	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	8/8	2644/6006	2315/2853	772/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130473333	A A	T T	missense_variant missense_variant	MODERATE	NA18957.hp2 NA18957.hp2	a0012 a0012	a0012c0033 a0012c0033	a0012c0033t0001 a0012c0033t0001	a0012c0033t0001g0260 a0012c0033t0001g0260	1	398	0.0025	c.236 others(4): Show c.2365A>T	p.Met others(6): Show p.Met789Leu	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	8/8	2694/6006	2365/2853	789/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130473525	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02886.hp1 HG02896.hp1 HG02055.hp1 HG02886.hp1 HG02896.hp1	a0009 a0014 a0016 a0009 a0014 a0016	a0009c0020 a0014c0026 a0016c0036 a0009c0020 a0014c0026 a0016c0036	a0009c0020t0012 a0014c0026t0012 a0016c0036t0012 a0009c0020t0012 a0014c0026t0012 a0016c0036t0012	a0009c0020t0012g0343 a0014c0026t0012g0168 a0016c0036t0012g0199 a0009c0020t0012g0343 a0014c0026t0012g0168 a0016c0036t0012g0199	3	398	0.0075	c.255 others(4): Show c.2557G>A	p.Ala others(6): Show p.Ala853Thr	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	8/8	2886/6006	2557/2853	853/950	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130473745	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0003 a0013c0027t0003	a0013c0027t0003g0338 a0013c0027t0003g0338	1	398	0.0025	c.277 others(4): Show c.2777G>A	p.Arg others(6): Show p.Arg926Gln	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	8/8	3106/6006	2777/2853	926/950	chr11	TogoVar
ADAMTS16_chr5_5135330_5325304	5146222	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(204): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(17): Show a0001 a0002 a0005 a0006 a0008 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030	a0001c0001 a0001c0010 a0001c0022 others(44): Show a0001c0001 a0001c0010 a0001c0022 a0001c0023 a0001c0030 a0001c0031 a0001c0032 a0001c0036 a0001c0037 a0001c0050 a0001c0052 a0001c0055 a0001c0057 a0001c0063 a0002c0002 a0002c0005 a0002c0013 a0002c0033 a0002c0067 a0002c0068 a0002c0076 a0002c0077 a0002c0078 a0002c0080 a0002c0082 a0005c0003 a0005c0062 a0006c0008 a0006c0029 a0008c0019 a0008c0038 a0016c0053 a0016c0056 a0017c0051 a0018c0054 a0019c0059 a0020c0058 a0021c0060 a0022c0061 a0023c0065 a0024c0064 a0025c0066 a0026c0073 a0027c0079 a0028c0081 a0029c0075 a0030c0074	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(115): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0026 a0001c0001t0039 a0001c0001t0042 a0001c0010t0001 a0001c0010t0002 a0001c0010t0007 a0001c0010t0008 a0001c0022t0001 a0001c0022t0002 a0001c0022t0034 a0001c0023t0001 a0001c0023t0002 a0001c0023t0006 a0001c0023t0015 a0001c0030t0003 a0001c0030t0013 a0001c0031t0002 a0001c0031t0013 a0001c0032t0001 a0001c0032t0038 a0001c0036t0006 a0001c0036t0012 a0001c0037t0001 a0001c0037t0002 a0001c0050t0009 a0001c0052t0006 a0001c0055t0020 a0001c0057t0001 a0001c0063t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0028 a0002c0002t0036 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0002c0005t0005 a0002c0005t0007 a0002c0005t0009 a0002c0005t0012 a0002c0005t0031 a0002c0005t0041 a0002c0013t0001 a0002c0013t0002 a0002c0013t0005 a0002c0013t0007 a0002c0013t0022 a0002c0033t0002 a0002c0033t0012 a0002c0067t0001 a0002c0068t0001 a0002c0076t0020 a0002c0077t0001 a0002c0078t0019 a0002c0080t0001 a0002c0082t0002 a0005c0003t0001 a0005c0003t0002 a0005c0003t0003 a0005c0003t0004 a0005c0003t0005 a0005c0003t0010 a0005c0003t0013 a0005c0003t0021 a0005c0062t0004 a0006c0008t0001 a0006c0008t0003 a0006c0008t0004 a0006c0008t0005 a0006c0008t0025 a0006c0029t0001 a0006c0029t0003 a0008c0019t0001 a0008c0019t0003 a0008c0019t0024 a0008c0019t0030 a0008c0038t0001 a0008c0038t0003 a0016c0053t0002 a0016c0056t0001 a0017c0051t0001 a0018c0054t0005 a0019c0059t0001 a0020c0058t0002 a0021c0060t0002 a0022c0061t0007 a0023c0065t0001 a0024c0064t0001 a0025c0066t0002 a0026c0073t0024 a0027c0079t0029 a0028c0081t0011 a0029c0075t0001 a0030c0074t0011	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 others(203): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0132 a0001c0001t0001g0315 a0001c0001t0001g0320 a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0095 a0001c0001t0003g0053 a0001c0001t0003g0093 a0001c0001t0003g0329 a0001c0001t0004g0035 a0001c0001t0004g0041 a0001c0001t0004g0092 a0001c0001t0005g0031 a0001c0001t0005g0086 a0001c0001t0006g0066 a0001c0001t0006g0076 a0001c0001t0007g0032 a0001c0001t0007g0104 a0001c0001t0008g0044 a0001c0001t0008g0070 a0001c0001t0008g0090 a0001c0001t0008g0094 a0001c0001t0010g0001 a0001c0001t0010g0064 a0001c0001t0011g0327 a0001c0001t0012g0021 a0001c0001t0012g0234 a0001c0001t0014g0059 a0001c0001t0014g0323 a0001c0001t0017g0321 a0001c0001t0017g0330 a0001c0001t0019g0085 a0001c0001t0023g0233 a0001c0001t0026g0034 a0001c0001t0039g0069 a0001c0001t0042g0088 a0001c0010t0001g0015 a0001c0010t0001g0063 a0001c0010t0001g0073 a0001c0010t0002g0075 a0001c0010t0002g0325 a0001c0010t0007g0079 a0001c0010t0008g0232 a0001c0022t0001g0013 a0001c0022t0001g0016 a0001c0022t0002g0316 a0001c0022t0034g0318 a0001c0023t0001g0228 a0001c0023t0002g0225 a0001c0023t0006g0226 a0001c0023t0015g0223 a0001c0030t0003g0062 a0001c0030t0013g0317 a0001c0031t0002g0011 a0001c0031t0013g0012 a0001c0032t0001g0065 a0001c0032t0038g0235 a0001c0036t0006g0230 a0001c0036t0012g0231 a0001c0037t0001g0227 a0001c0037t0002g0224 a0001c0050t0009g0067 a0001c0052t0006g0236 a0001c0055t0020g0056 a0001c0057t0001g0324 a0001c0063t0001g0319 a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0269 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0276 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0288 a0002c0002t0001g0295 a0002c0002t0001g0304 a0002c0002t0001g0314 a0002c0002t0002g0198 a0002c0002t0002g0214 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0297 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0003g0212 a0002c0002t0003g0219 a0002c0002t0004g0218 a0002c0002t0004g0307 a0002c0002t0005g0271 a0002c0002t0005g0294 a0002c0002t0005g0306 a0002c0002t0005g0313 a0002c0002t0006g0279 a0002c0002t0007g0265 a0002c0002t0008g0207 a0002c0002t0011g0296 a0002c0002t0012g0285 a0002c0002t0013g0202 a0002c0002t0013g0222 a0002c0002t0028g0206 a0002c0002t0036g0217 a0002c0005t0001g0200 a0002c0005t0001g0209 a0002c0005t0001g0220 a0002c0005t0001g0278 a0002c0005t0001g0303 a0002c0005t0002g0275 a0002c0005t0004g0298 a0002c0005t0005g0196 a0002c0005t0005g0302 a0002c0005t0007g0201 a0002c0005t0009g0203 a0002c0005t0012g0305 a0002c0005t0031g0308 a0002c0005t0041g0310 a0002c0013t0001g0291 a0002c0013t0002g0195 a0002c0013t0002g0274 a0002c0013t0005g0290 a0002c0013t0007g0289 a0002c0013t0022g0286 a0002c0033t0002g0003 a0002c0033t0012g0004 a0002c0067t0001g0270 a0002c0068t0001g0309 a0002c0076t0020g0277 a0002c0077t0001g0199 a0002c0078t0019g0197 a0002c0080t0001g0208 a0002c0082t0002g0300 a0005c0003t0001g0005 a0005c0003t0001g0017 a0005c0003t0001g0051 a0005c0003t0002g0018 a0005c0003t0002g0038 a0005c0003t0002g0047 a0005c0003t0002g0084 a0005c0003t0002g0091 a0005c0003t0003g0087 a0005c0003t0003g0131 a0005c0003t0004g0026 a0005c0003t0004g0027 a0005c0003t0005g0080 a0005c0003t0010g0054 a0005c0003t0013g0055 a0005c0003t0021g0082 a0005c0062t0004g0322 a0006c0008t0001g0008 a0006c0008t0001g0040 a0006c0008t0001g0077 a0006c0008t0001g0078 a0006c0008t0001g0089 a0006c0008t0003g0039 a0006c0008t0004g0006 a0006c0008t0004g0007 a0006c0008t0005g0083 a0006c0008t0025g0033 a0006c0029t0001g0023 a0006c0029t0003g0019 a0008c0019t0001g0211 a0008c0019t0001g0268 a0008c0019t0003g0287 a0008c0019t0024g0267 a0008c0019t0030g0284 a0008c0038t0001g0266 a0008c0038t0003g0221 a0016c0053t0002g0326 a0016c0056t0001g0061 a0017c0051t0001g0009 a0018c0054t0005g0074 a0019c0059t0001g0014 a0020c0058t0002g0328 a0021c0060t0002g0043 a0022c0061t0007g0036 a0023c0065t0001g0024 a0024c0064t0001g0081 a0025c0066t0002g0264 a0026c0073t0024g0229 a0027c0079t0029g0204 a0028c0081t0011g0205 a0029c0075t0001g0301 a0030c0074t0011g0299	207	332	0.6235	c.268 others(3): Show c.268C>G	p.Pro others(5): Show p.Pro90Ala	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	3/23	406/4979	268/3675	90/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5146264	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(171): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(17): Show a0001 a0004 a0005 a0006 a0009 a0014 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0031 a0032 a0033 a0034 a0035	a0001c0001 a0001c0010 a0001c0022 others(40): Show a0001c0001 a0001c0010 a0001c0022 a0001c0023 a0001c0030 a0001c0031 a0001c0032 a0001c0036 a0001c0037 a0001c0050 a0001c0052 a0001c0055 a0001c0057 a0001c0063 a0004c0004 a0004c0009 a0004c0020 a0004c0024 a0004c0034 a0004c0044 a0004c0069 a0005c0003 a0005c0062 a0006c0008 a0006c0029 a0009c0011 a0009c0039 a0014c0025 a0016c0053 a0016c0056 a0017c0051 a0018c0054 a0019c0059 a0020c0058 a0021c0060 a0022c0061 a0023c0065 a0024c0064 a0031c0040 a0032c0042 a0033c0043 a0034c0041 a0035c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(99): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0026 a0001c0001t0039 a0001c0001t0042 a0001c0010t0001 a0001c0010t0002 a0001c0010t0007 a0001c0010t0008 a0001c0022t0001 a0001c0022t0002 a0001c0022t0034 a0001c0023t0001 a0001c0023t0002 a0001c0023t0006 a0001c0023t0015 a0001c0030t0003 a0001c0030t0013 a0001c0031t0002 a0001c0031t0013 a0001c0032t0001 a0001c0032t0038 a0001c0036t0006 a0001c0036t0012 a0001c0037t0001 a0001c0037t0002 a0001c0050t0009 a0001c0052t0006 a0001c0055t0020 a0001c0057t0001 a0001c0063t0001 a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 a0004c0004t0007 a0004c0004t0010 a0004c0004t0015 a0004c0004t0016 a0004c0009t0001 a0004c0009t0002 a0004c0009t0009 a0004c0009t0015 a0004c0009t0018 a0004c0009t0040 a0004c0020t0001 a0004c0020t0006 a0004c0020t0022 a0004c0024t0006 a0004c0024t0009 a0004c0034t0001 a0004c0034t0008 a0004c0044t0002 a0004c0069t0002 a0005c0003t0001 a0005c0003t0002 a0005c0003t0003 a0005c0003t0004 a0005c0003t0005 a0005c0003t0010 a0005c0003t0013 a0005c0003t0021 a0005c0062t0004 a0006c0008t0001 a0006c0008t0003 a0006c0008t0004 a0006c0008t0005 a0006c0008t0025 a0006c0029t0001 a0006c0029t0003 a0009c0011t0001 a0009c0011t0005 a0009c0039t0015 a0014c0025t0001 a0014c0025t0002 a0016c0053t0002 a0016c0056t0001 a0017c0051t0001 a0018c0054t0005 a0019c0059t0001 a0020c0058t0002 a0021c0060t0002 a0022c0061t0007 a0023c0065t0001 a0024c0064t0001 a0031c0040t0014 a0032c0042t0003 a0033c0043t0023 a0034c0041t0037 a0035c0045t0010	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 others(170): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0132 a0001c0001t0001g0315 a0001c0001t0001g0320 a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0045 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0095 a0001c0001t0003g0053 a0001c0001t0003g0093 a0001c0001t0003g0329 a0001c0001t0004g0035 a0001c0001t0004g0041 a0001c0001t0004g0092 a0001c0001t0005g0031 a0001c0001t0005g0086 a0001c0001t0006g0066 a0001c0001t0006g0076 a0001c0001t0007g0032 a0001c0001t0007g0104 a0001c0001t0008g0044 a0001c0001t0008g0070 a0001c0001t0008g0090 a0001c0001t0008g0094 a0001c0001t0010g0001 a0001c0001t0010g0064 a0001c0001t0011g0327 a0001c0001t0012g0021 a0001c0001t0012g0234 a0001c0001t0014g0059 a0001c0001t0014g0323 a0001c0001t0017g0321 a0001c0001t0017g0330 a0001c0001t0019g0085 a0001c0001t0023g0233 a0001c0001t0026g0034 a0001c0001t0039g0069 a0001c0001t0042g0088 a0001c0010t0001g0015 a0001c0010t0001g0063 a0001c0010t0001g0073 a0001c0010t0002g0075 a0001c0010t0002g0325 a0001c0010t0007g0079 a0001c0010t0008g0232 a0001c0022t0001g0013 a0001c0022t0001g0016 a0001c0022t0002g0316 a0001c0022t0034g0318 a0001c0023t0001g0228 a0001c0023t0002g0225 a0001c0023t0006g0226 a0001c0023t0015g0223 a0001c0030t0003g0062 a0001c0030t0013g0317 a0001c0031t0002g0011 a0001c0031t0013g0012 a0001c0032t0001g0065 a0001c0032t0038g0235 a0001c0036t0006g0230 a0001c0036t0012g0231 a0001c0037t0001g0227 a0001c0037t0002g0224 a0001c0050t0009g0067 a0001c0052t0006g0236 a0001c0055t0020g0056 a0001c0057t0001g0324 a0001c0063t0001g0319 a0004c0004t0001g0106 a0004c0004t0001g0108 a0004c0004t0001g0113 a0004c0004t0001g0115 a0004c0004t0001g0122 a0004c0004t0001g0123 a0004c0004t0001g0127 a0004c0004t0001g0133 a0004c0004t0002g0114 a0004c0004t0005g0120 a0004c0004t0005g0121 a0004c0004t0007g0136 a0004c0004t0010g0119 a0004c0004t0015g0138 a0004c0004t0016g0130 a0004c0009t0001g0139 a0004c0009t0002g0124 a0004c0009t0009g0129 a0004c0009t0009g0134 a0004c0009t0009g0137 a0004c0009t0015g0140 a0004c0009t0018g0142 a0004c0009t0040g0135 a0004c0020t0001g0102 a0004c0020t0006g0098 a0004c0020t0006g0103 a0004c0020t0022g0100 a0004c0024t0006g0002 a0004c0024t0009g0097 a0004c0024t0009g0101 a0004c0034t0001g0262 a0004c0034t0008g0261 a0004c0044t0002g0109 a0004c0069t0002g0260 a0005c0003t0001g0005 a0005c0003t0001g0017 a0005c0003t0001g0051 a0005c0003t0002g0018 a0005c0003t0002g0038 a0005c0003t0002g0047 a0005c0003t0002g0084 a0005c0003t0002g0091 a0005c0003t0003g0087 a0005c0003t0003g0131 a0005c0003t0004g0026 a0005c0003t0004g0027 a0005c0003t0005g0080 a0005c0003t0010g0054 a0005c0003t0013g0055 a0005c0003t0021g0082 a0005c0062t0004g0322 a0006c0008t0001g0008 a0006c0008t0001g0040 a0006c0008t0001g0077 a0006c0008t0001g0078 a0006c0008t0001g0089 a0006c0008t0003g0039 a0006c0008t0004g0006 a0006c0008t0004g0007 a0006c0008t0005g0083 a0006c0008t0025g0033 a0006c0029t0001g0023 a0006c0029t0003g0019 a0009c0011t0001g0107 a0009c0011t0001g0112 a0009c0011t0001g0117 a0009c0011t0001g0118 a0009c0011t0001g0125 a0009c0011t0005g0105 a0009c0039t0015g0099 a0014c0025t0001g0128 a0014c0025t0002g0111 a0014c0025t0002g0116 a0016c0053t0002g0326 a0016c0056t0001g0061 a0017c0051t0001g0009 a0018c0054t0005g0074 a0019c0059t0001g0014 a0020c0058t0002g0328 a0021c0060t0002g0043 a0022c0061t0007g0036 a0023c0065t0001g0024 a0024c0064t0001g0081 a0031c0040t0014g0191 a0032c0042t0003g0126 a0033c0043t0023g0141 a0034c0041t0037g0192 a0035c0045t0010g0110	174	332	0.5241	c.310 others(3): Show c.310T>C	p.Ser others(6): Show p.Ser104Pro	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	3/23	448/4979	310/3675	104/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5146282	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00323.hp1 HG00544.hp1 others(139): Show HG00140.hp1 HG00323.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19060.hp1 NA19068.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19240.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0008 others(10): Show a0002 a0003 a0008 a0010 a0011 a0012 a0013 a0027 a0028 a0029 a0030 a0038 a0039	a0002c0002 a0002c0005 a0002c0013 others(28): Show a0002c0002 a0002c0005 a0002c0013 a0002c0033 a0002c0067 a0002c0068 a0002c0076 a0002c0077 a0002c0078 a0002c0080 a0002c0082 a0003c0006 a0003c0007 a0003c0016 a0003c0017 a0003c0018 a0008c0019 a0008c0038 a0010c0015 a0010c0046 a0011c0021 a0011c0028 a0012c0014 a0013c0026 a0013c0048 a0027c0079 a0028c0081 a0029c0075 a0030c0074 a0038c0047 a0039c0049	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(89): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0028 a0002c0002t0036 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0002c0005t0005 a0002c0005t0007 a0002c0005t0009 a0002c0005t0012 a0002c0005t0031 a0002c0005t0041 a0002c0013t0001 a0002c0013t0002 a0002c0013t0005 a0002c0013t0007 a0002c0013t0022 a0002c0033t0002 a0002c0033t0012 a0002c0067t0001 a0002c0068t0001 a0002c0076t0020 a0002c0077t0001 a0002c0078t0019 a0002c0080t0001 a0002c0082t0002 a0003c0006t0001 a0003c0006t0002 a0003c0006t0003 a0003c0006t0004 a0003c0006t0006 a0003c0006t0011 a0003c0006t0016 a0003c0007t0001 a0003c0007t0002 a0003c0007t0003 a0003c0007t0004 a0003c0007t0005 a0003c0007t0007 a0003c0007t0010 a0003c0007t0014 a0003c0007t0018 a0003c0007t0027 a0003c0016t0001 a0003c0016t0002 a0003c0016t0004 a0003c0017t0001 a0003c0017t0013 a0003c0017t0032 a0003c0017t0033 a0003c0018t0001 a0003c0018t0002 a0003c0018t0008 a0003c0018t0009 a0003c0018t0018 a0008c0019t0001 a0008c0019t0003 a0008c0019t0024 a0008c0019t0030 a0008c0038t0001 a0008c0038t0003 a0010c0015t0002 a0010c0015t0003 a0010c0015t0011 a0010c0015t0017 a0010c0046t0003 a0011c0021t0001 a0011c0021t0002 a0011c0021t0004 a0011c0028t0001 a0011c0028t0035 a0012c0014t0002 a0012c0014t0005 a0013c0026t0002 a0013c0026t0003 a0013c0048t0004 a0027c0079t0029 a0028c0081t0011 a0029c0075t0001 a0030c0074t0011 a0038c0047t0001 a0039c0049t0001	a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0215 others(139): Show a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0269 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0276 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0288 a0002c0002t0001g0295 a0002c0002t0001g0304 a0002c0002t0001g0314 a0002c0002t0002g0198 a0002c0002t0002g0214 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0297 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0003g0212 a0002c0002t0003g0219 a0002c0002t0004g0218 a0002c0002t0004g0307 a0002c0002t0005g0271 a0002c0002t0005g0294 a0002c0002t0005g0306 a0002c0002t0005g0313 a0002c0002t0006g0279 a0002c0002t0007g0265 a0002c0002t0008g0207 a0002c0002t0011g0296 a0002c0002t0012g0285 a0002c0002t0013g0202 a0002c0002t0013g0222 a0002c0002t0028g0206 a0002c0002t0036g0217 a0002c0005t0001g0200 a0002c0005t0001g0209 a0002c0005t0001g0220 a0002c0005t0001g0278 a0002c0005t0001g0303 a0002c0005t0002g0275 a0002c0005t0004g0298 a0002c0005t0005g0196 a0002c0005t0005g0302 a0002c0005t0007g0201 a0002c0005t0009g0203 a0002c0005t0012g0305 a0002c0005t0031g0308 a0002c0005t0041g0310 a0002c0013t0001g0291 a0002c0013t0002g0195 a0002c0013t0002g0274 a0002c0013t0005g0290 a0002c0013t0007g0289 a0002c0013t0022g0286 a0002c0033t0002g0003 a0002c0033t0012g0004 a0002c0067t0001g0270 a0002c0068t0001g0309 a0002c0076t0020g0277 a0002c0077t0001g0199 a0002c0078t0019g0197 a0002c0080t0001g0208 a0002c0082t0002g0300 a0003c0006t0001g0147 a0003c0006t0001g0187 a0003c0006t0002g0167 a0003c0006t0002g0168 a0003c0006t0002g0186 a0003c0006t0003g0177 a0003c0006t0004g0176 a0003c0006t0006g0181 a0003c0006t0011g0148 a0003c0006t0011g0178 a0003c0006t0016g0169 a0003c0006t0016g0172 a0003c0007t0001g0175 a0003c0007t0001g0190 a0003c0007t0002g0162 a0003c0007t0003g0163 a0003c0007t0004g0189 a0003c0007t0005g0182 a0003c0007t0007g0146 a0003c0007t0007g0194 a0003c0007t0010g0170 a0003c0007t0014g0180 a0003c0007t0018g0171 a0003c0007t0027g0183 a0003c0016t0001g0173 a0003c0016t0001g0179 a0003c0016t0002g0193 a0003c0016t0004g0149 a0003c0016t0004g0331 a0003c0017t0001g0242 a0003c0017t0001g0244 a0003c0017t0013g0239 a0003c0017t0032g0237 a0003c0017t0033g0241 a0003c0018t0001g0245 a0003c0018t0002g0263 a0003c0018t0008g0238 a0003c0018t0009g0243 a0003c0018t0018g0240 a0008c0019t0001g0211 a0008c0019t0001g0268 a0008c0019t0003g0287 a0008c0019t0024g0267 a0008c0019t0030g0284 a0008c0038t0001g0266 a0008c0038t0003g0221 a0010c0015t0002g0143 a0010c0015t0003g0160 a0010c0015t0003g0174 a0010c0015t0011g0185 a0010c0015t0017g0164 a0010c0046t0003g0165 a0011c0021t0001g0152 a0011c0021t0001g0159 a0011c0021t0002g0151 a0011c0021t0004g0166 a0011c0028t0001g0156 a0011c0028t0035g0157 a0012c0014t0002g0096 a0012c0014t0002g0161 a0012c0014t0002g0184 a0012c0014t0002g0188 a0012c0014t0005g0154 a0013c0026t0002g0144 a0013c0026t0002g0150 a0013c0026t0003g0158 a0013c0048t0004g0155 a0027c0079t0029g0204 a0028c0081t0011g0205 a0029c0075t0001g0301 a0030c0074t0011g0299 a0038c0047t0001g0145 a0039c0049t0001g0153	142	332	0.4277	c.328 others(3): Show c.328A>G	p.Met others(6): Show p.Met110Val	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	3/23	466/4979	328/3675	110/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5182173	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 HG01109.hp1 HG02129.hp1 others(10): Show HG00140.hp1 HG01109.hp1 HG02129.hp1 NA18943.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp1 NA18984.hp2 NA18991.hp2 NA19068.hp1 NA19076.hp1 NA19080.hp2 NA19081.hp1	a0011 a0013 a0023 others(2): Show a0011 a0013 a0023 a0024 a0039	a0011c0021 a0011c0028 a0013c0026 others(4): Show a0011c0021 a0011c0028 a0013c0026 a0013c0048 a0023c0065 a0024c0064 a0039c0049	a0011c0021t0001 a0011c0021t0002 a0011c0021t0004 others(8): Show a0011c0021t0001 a0011c0021t0002 a0011c0021t0004 a0011c0028t0001 a0011c0028t0035 a0013c0026t0002 a0013c0026t0003 a0013c0048t0004 a0023c0065t0001 a0024c0064t0001 a0039c0049t0001	a0011c0021t0001g0152 a0011c0021t0001g0159 a0011c0021t0002g0151 others(10): Show a0011c0021t0001g0152 a0011c0021t0001g0159 a0011c0021t0002g0151 a0011c0021t0004g0166 a0011c0028t0001g0156 a0011c0028t0035g0157 a0013c0026t0002g0144 a0013c0026t0002g0150 a0013c0026t0003g0158 a0013c0048t0004g0155 a0023c0065t0001g0024 a0024c0064t0001g0081 a0039c0049t0001g0153	13	332	0.0392	c.631 others(3): Show c.631C>T	p.Pro others(6): Show p.Pro211Ser	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	4/23	769/4979	631/3675	211/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5182296	C C	T T	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0025 a0025	a0025c0066 a0025c0066	a0025c0066t0002 a0025c0066t0002	a0025c0066t0002g0264 a0025c0066t0002g0264	1	332	0.0030	c.754 others(3): Show c.754C>T	p.Arg others(6): Show p.Arg252Cys	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	4/23	892/4979	754/3675	252/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5200260	A A	G G	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00558.hp2	a0022 a0022	a0022c0061 a0022c0061	a0022c0061t0007 a0022c0061t0007	a0022c0061t0007g0036 a0022c0061t0007g0036	1	332	0.0030	c.144 others(4): Show c.1442A>G	p.Lys others(6): Show p.Lys481Arg	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	9/23	1580/4979	1442/3675	481/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5209097	G G	A A	missense_variant missense_variant	MODERATE	HG00597.hp1 HG00621.hp1 HG00673.hp2 others(24): Show HG00597.hp1 HG00621.hp1 HG00673.hp2 HG00741.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01934.hp1 HG01993.hp1 HG02165.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp2 NA18959.hp2 NA18962.hp1 NA18978.hp1 NA18983.hp1 NA18984.hp1 NA18994.hp2 NA18995.hp1 NA19003.hp2 NA19004.hp1 NA19054.hp2 NA19077.hp1 NA19079.hp1 NA20129.hp2	a0005 a0012 a0014 others(2): Show a0005 a0012 a0014 a0030 a0037	a0005c0003 a0005c0062 a0012c0014 others(3): Show a0005c0003 a0005c0062 a0012c0014 a0014c0025 a0030c0074 a0037c0071	a0005c0003t0001 a0005c0003t0002 a0005c0003t0003 others(12): Show a0005c0003t0001 a0005c0003t0002 a0005c0003t0003 a0005c0003t0004 a0005c0003t0005 a0005c0003t0010 a0005c0003t0013 a0005c0003t0021 a0005c0062t0004 a0012c0014t0002 a0012c0014t0005 a0014c0025t0001 a0014c0025t0002 a0030c0074t0011 a0037c0071t0002	a0005c0003t0001g0005 a0005c0003t0001g0017 a0005c0003t0001g0051 others(24): Show a0005c0003t0001g0005 a0005c0003t0001g0017 a0005c0003t0001g0051 a0005c0003t0002g0018 a0005c0003t0002g0038 a0005c0003t0002g0047 a0005c0003t0002g0084 a0005c0003t0002g0091 a0005c0003t0003g0087 a0005c0003t0003g0131 a0005c0003t0004g0026 a0005c0003t0004g0027 a0005c0003t0005g0080 a0005c0003t0010g0054 a0005c0003t0013g0055 a0005c0003t0021g0082 a0005c0062t0004g0322 a0012c0014t0002g0096 a0012c0014t0002g0161 a0012c0014t0002g0184 a0012c0014t0002g0188 a0012c0014t0005g0154 a0014c0025t0001g0128 a0014c0025t0002g0111 a0014c0025t0002g0116 a0030c0074t0011g0299 a0037c0071t0002g0256	27	332	0.0813	c.145 others(4): Show c.1456G>A	p.Ala others(6): Show p.Ala486Thr	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	10/23	1594/4979	1456/3675	486/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5235051	C C	T T	missense_variant missense_variant	MODERATE	NA19003.hp1 NA19003.hp1	a0036 a0036	a0036c0070 a0036c0070	a0036c0070t0001 a0036c0070t0001	a0036c0070t0001g0258 a0036c0070t0001g0258	1	332	0.0030	c.188 others(4): Show c.1888C>T	p.Arg others(6): Show p.Arg630Cys	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	13/23	2026/4979	1888/3675	630/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5235127	A A	G G	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00673.hp1 NA19011.hp2 HG00558.hp2 HG00673.hp1 NA19011.hp2	a0021 a0022 a0035 a0021 a0022 a0035	a0021c0060 a0022c0061 a0035c0045 a0021c0060 a0022c0061 a0035c0045	a0021c0060t0002 a0022c0061t0007 a0035c0045t0010 a0021c0060t0002 a0022c0061t0007 a0035c0045t0010	a0021c0060t0002g0043 a0022c0061t0007g0036 a0035c0045t0010g0110 a0021c0060t0002g0043 a0022c0061t0007g0036 a0035c0045t0010g0110	3	332	0.0090	c.196 others(4): Show c.1964A>G	p.His others(6): Show p.His655Arg	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	13/23	2102/4979	1964/3675	655/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5235139	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02109.hp2 HG01243.hp1 HG02109.hp2	a0027 a0031 a0027 a0031	a0027c0079 a0031c0040 a0027c0079 a0031c0040	a0027c0079t0029 a0031c0040t0014 a0027c0079t0029 a0031c0040t0014	a0027c0079t0029g0204 a0031c0040t0014g0191 a0027c0079t0029g0204 a0031c0040t0014g0191	2	332	0.0060	c.197 others(4): Show c.1976G>A	p.Arg others(6): Show p.Arg659Gln	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	13/23	2114/4979	1976/3675	659/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5239196	G G	A A	missense_variant missense_variant	MODERATE	HG01346.hp1 HG01346.hp1	a0018 a0018	a0018c0054 a0018c0054	a0018c0054t0005 a0018c0054t0005	a0018c0054t0005g0074 a0018c0054t0005g0074	1	332	0.0030	c.220 others(4): Show c.2200G>A	p.Val others(6): Show p.Val734Ile	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	15/23	2338/4979	2200/3675	734/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5239749	A A	G G	missense_variant missense_variant	MODERATE	HG02080.hp2 NA18973.hp2 NA18991.hp2 others(2): Show HG02080.hp2 NA18973.hp2 NA18991.hp2 NA19056.hp1 NA19057.hp1	a0019 a0023 a0032 others(2): Show a0019 a0023 a0032 a0038 a0039	a0019c0059 a0023c0065 a0032c0042 others(2): Show a0019c0059 a0023c0065 a0032c0042 a0038c0047 a0039c0049	a0019c0059t0001 a0023c0065t0001 a0032c0042t0003 others(2): Show a0019c0059t0001 a0023c0065t0001 a0032c0042t0003 a0038c0047t0001 a0039c0049t0001	a0019c0059t0001g0014 a0023c0065t0001g0024 a0032c0042t0003g0126 others(2): Show a0019c0059t0001g0014 a0023c0065t0001g0024 a0032c0042t0003g0126 a0038c0047t0001g0145 a0039c0049t0001g0153	5	332	0.0151	c.234 others(4): Show c.2347A>G	p.Thr others(6): Show p.Thr783Ala	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	16/23	2485/4979	2347/3675	783/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5239771	A A	G G	missense_variant missense_variant	MODERATE	NA18963.hp1 NA18963.hp1	a0020 a0020	a0020c0058 a0020c0058	a0020c0058t0002 a0020c0058t0002	a0020c0058t0002g0328 a0020c0058t0002g0328	1	332	0.0030	c.236 others(4): Show c.2369A>G	p.Asn others(6): Show p.Asn790Ser	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	16/23	2507/4979	2369/3675	790/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5242105	G G	T T	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(37): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG01884.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG03710.hp2 HG06807.hp2 NA18944.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18994.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19057.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp2 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1	a0006 a0008 a0009 others(4): Show a0006 a0008 a0009 a0010 a0013 a0015 a0020	a0006c0008 a0006c0029 a0008c0019 others(10): Show a0006c0008 a0006c0029 a0008c0019 a0008c0038 a0009c0011 a0009c0039 a0010c0015 a0010c0046 a0013c0026 a0013c0048 a0015c0035 a0015c0072 a0020c0058	a0006c0008t0001 a0006c0008t0003 a0006c0008t0004 others(25): Show a0006c0008t0001 a0006c0008t0003 a0006c0008t0004 a0006c0008t0005 a0006c0008t0025 a0006c0029t0001 a0006c0029t0003 a0008c0019t0001 a0008c0019t0003 a0008c0019t0024 a0008c0019t0030 a0008c0038t0001 a0008c0038t0003 a0009c0011t0001 a0009c0011t0005 a0009c0039t0015 a0010c0015t0002 a0010c0015t0003 a0010c0015t0011 a0010c0015t0017 a0010c0046t0003 a0013c0026t0002 a0013c0026t0003 a0013c0048t0004 a0015c0035t0001 a0015c0035t0003 a0015c0072t0001 a0020c0058t0002	a0006c0008t0001g0008 a0006c0008t0001g0040 a0006c0008t0001g0077 others(37): Show a0006c0008t0001g0008 a0006c0008t0001g0040 a0006c0008t0001g0077 a0006c0008t0001g0078 a0006c0008t0001g0089 a0006c0008t0003g0039 a0006c0008t0004g0006 a0006c0008t0004g0007 a0006c0008t0005g0083 a0006c0008t0025g0033 a0006c0029t0001g0023 a0006c0029t0003g0019 a0008c0019t0001g0211 a0008c0019t0001g0268 a0008c0019t0003g0287 a0008c0019t0024g0267 a0008c0019t0030g0284 a0008c0038t0001g0266 a0008c0038t0003g0221 a0009c0011t0001g0107 a0009c0011t0001g0112 a0009c0011t0001g0117 a0009c0011t0001g0118 a0009c0011t0001g0125 a0009c0011t0005g0105 a0009c0039t0015g0099 a0010c0015t0002g0143 a0010c0015t0003g0160 a0010c0015t0003g0174 a0010c0015t0011g0185 a0010c0015t0017g0164 a0010c0046t0003g0165 a0013c0026t0002g0144 a0013c0026t0002g0150 a0013c0026t0003g0158 a0013c0048t0004g0155 a0015c0035t0001g0250 a0015c0035t0003g0259 a0015c0072t0001g0246 a0020c0058t0002g0328	40	332	0.1205	c.257 others(4): Show c.2576G>T	p.Arg others(6): Show p.Arg859Leu	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	17/23	2714/4979	2576/3675	859/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5262723	A A	G G	missense_variant missense_variant	MODERATE	HG03195.hp2 HG03195.hp2	a0034 a0034	a0034c0041 a0034c0041	a0034c0041t0037 a0034c0041t0037	a0034c0041t0037g0192 a0034c0041t0037g0192	1	332	0.0030	c.272 others(4): Show c.2729A>G	p.Asn others(6): Show p.Asn910Ser	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	18/23	2867/4979	2729/3675	910/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5303303	C C	A A	missense_variant missense_variant	MODERATE	HG03540.hp1 NA19240.hp2 HG03540.hp1 NA19240.hp2	a0016 a0016	a0016c0053 a0016c0056 a0016c0053 a0016c0056	a0016c0053t0002 a0016c0056t0001 a0016c0053t0002 a0016c0056t0001	a0016c0053t0002g0326 a0016c0056t0001g0061 a0016c0053t0002g0326 a0016c0056t0001g0061	2	332	0.0060	c.282 others(4): Show c.2825C>A	p.Thr others(6): Show p.Thr942Lys	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	19/23	2963/4979	2825/3675	942/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5303311	G G	A A	missense_variant missense_variant	MODERATE	HG02738.hp1 HG02738.hp1	a0029 a0029	a0029c0075 a0029c0075	a0029c0075t0001 a0029c0075t0001	a0029c0075t0001g0301 a0029c0075t0001g0301	1	332	0.0030	c.283 others(4): Show c.2833G>A	p.Gly others(6): Show p.Gly945Arg	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	19/23	2971/4979	2833/3675	945/1224	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5318222	A A	C C	missense_variant missense_variant	MODERATE	HG02886.hp2 HG03225.hp2 HG03540.hp2 HG02886.hp2 HG03225.hp2 HG03540.hp2	a0026 a0028 a0033 a0026 a0028 a0033	a0026c0073 a0028c0081 a0033c0043 a0026c0073 a0028c0081 a0033c0043	a0026c0073t0024 a0028c0081t0011 a0033c0043t0023 a0026c0073t0024 a0028c0081t0011 a0033c0043t0023	a0026c0073t0024g0229 a0028c0081t0011g0205 a0033c0043t0023g0141 a0026c0073t0024g0229 a0028c0081t0011g0205 a0033c0043t0023g0141	3	332	0.0090	c.350 others(4): Show c.3500A>C	p.Gln others(7): Show p.Gln1167Pro	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	22/23	3638/4979	3500/3675	1167/1224	chr5	TogoVar
ADAMTS17_chr15_99966437_100346975	99974409	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(147): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18955.hp1 NA18962.hp1 NA18964.hp1 NA18975.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18993.hp1 NA19000.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19081.hp2 NA19088.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0008 a0010	a0001c0002 a0001c0005 a0001c0007 others(51): Show a0001c0002 a0001c0005 a0001c0007 a0001c0010 a0001c0014 a0001c0017 a0001c0018 a0001c0021 a0001c0025 a0001c0033 a0001c0034 a0001c0039 a0001c0041 a0001c0043 a0001c0046 a0001c0047 a0001c0072 a0001c0074 a0002c0001 a0002c0004 a0002c0011 a0002c0022 a0002c0029 a0002c0050 a0002c0051 a0002c0052 a0002c0055 a0002c0057 a0002c0062 a0002c0064 a0002c0065 a0002c0066 a0002c0068 a0002c0070 a0002c0071 a0002c0073 a0002c0078 a0005c0020 a0005c0024 a0005c0026 a0005c0032 a0005c0035 a0005c0036 a0005c0040 a0005c0045 a0005c0075 a0006c0016 a0006c0049 a0006c0056 a0006c0059 a0006c0060 a0008c0058 a0008c0067 a0010c0063	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(123): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0019 a0001c0002t0065 a0001c0002t0066 a0001c0005t0002 a0001c0005t0004 a0001c0005t0005 a0001c0005t0009 a0001c0005t0011 a0001c0005t0012 a0001c0005t0053 a0001c0005t0072 a0001c0007t0002 a0001c0007t0004 a0001c0007t0006 a0001c0007t0007 a0001c0007t0010 a0001c0007t0018 a0001c0007t0023 a0001c0010t0004 a0001c0010t0007 a0001c0010t0009 a0001c0010t0011 a0001c0010t0020 a0001c0010t0028 a0001c0014t0006 a0001c0014t0007 a0001c0014t0030 a0001c0014t0034 a0001c0014t0061 a0001c0017t0002 a0001c0017t0037 a0001c0018t0010 a0001c0018t0016 a0001c0018t0070 a0001c0021t0005 a0001c0021t0006 a0001c0021t0016 a0001c0025t0008 a0001c0033t0015 a0001c0034t0060 a0001c0039t0008 a0001c0041t0040 a0001c0043t0052 a0001c0046t0008 a0001c0047t0005 a0001c0072t0005 a0001c0074t0002 a0002c0001t0002 a0002c0001t0004 a0002c0001t0005 a0002c0001t0007 a0002c0001t0012 a0002c0001t0013 a0002c0001t0016 a0002c0001t0024 a0002c0001t0031 a0002c0001t0033 a0002c0001t0036 a0002c0001t0038 a0002c0001t0055 a0002c0001t0056 a0002c0001t0057 a0002c0001t0062 a0002c0001t0073 a0002c0004t0002 a0002c0004t0004 a0002c0004t0006 a0002c0004t0007 a0002c0004t0017 a0002c0004t0019 a0002c0004t0032 a0002c0004t0074 a0002c0011t0006 a0002c0011t0022 a0002c0011t0023 a0002c0011t0039 a0002c0011t0042 a0002c0011t0063 a0002c0011t0064 a0002c0022t0005 a0002c0022t0035 a0002c0029t0002 a0002c0029t0025 a0002c0050t0006 a0002c0051t0015 a0002c0052t0069 a0002c0055t0014 a0002c0057t0022 a0002c0062t0011 a0002c0064t0005 a0002c0065t0008 a0002c0066t0006 a0002c0068t0013 a0002c0070t0067 a0002c0071t0025 a0002c0073t0051 a0002c0078t0007 a0005c0020t0005 a0005c0020t0017 a0005c0024t0002 a0005c0026t0004 a0005c0026t0058 a0005c0032t0054 a0005c0035t0010 a0005c0036t0002 a0005c0040t0004 a0005c0045t0013 a0005c0075t0071 a0006c0016t0002 a0006c0016t0012 a0006c0016t0024 a0006c0016t0059 a0006c0049t0015 a0006c0056t0029 a0006c0059t0014 a0006c0060t0014 a0008c0058t0005 a0008c0067t0004 a0010c0063t0068	a0001c0002t0002g0063 a0001c0002t0002g0169 a0001c0002t0004g0081 others(147): Show a0001c0002t0002g0063 a0001c0002t0002g0169 a0001c0002t0004g0081 a0001c0002t0004g0158 a0001c0002t0005g0148 a0001c0002t0007g0180 a0001c0002t0009g0028 a0001c0002t0011g0160 a0001c0002t0012g0106 a0001c0002t0019g0026 a0001c0002t0065g0071 a0001c0002t0066g0213 a0001c0005t0002g0075 a0001c0005t0002g0139 a0001c0005t0004g0104 a0001c0005t0005g0193 a0001c0005t0009g0015 a0001c0005t0009g0030 a0001c0005t0011g0179 a0001c0005t0012g0211 a0001c0005t0053g0222 a0001c0005t0072g0133 a0001c0007t0002g0057 a0001c0007t0004g0137 a0001c0007t0006g0062 a0001c0007t0006g0202 a0001c0007t0007g0066 a0001c0007t0010g0011 a0001c0007t0018g0045 a0001c0007t0018g0046 a0001c0007t0023g0215 a0001c0010t0004g0095 a0001c0010t0007g0130 a0001c0010t0009g0022 a0001c0010t0011g0117 a0001c0010t0020g0004 a0001c0010t0020g0018 a0001c0010t0028g0037 a0001c0014t0006g0122 a0001c0014t0007g0105 a0001c0014t0030g0001 a0001c0014t0034g0017 a0001c0014t0061g0166 a0001c0017t0002g0138 a0001c0017t0002g0156 a0001c0017t0002g0173 a0001c0017t0037g0047 a0001c0018t0010g0006 a0001c0018t0010g0007 a0001c0018t0016g0223 a0001c0018t0070g0119 a0001c0021t0005g0219 a0001c0021t0006g0171 a0001c0021t0016g0113 a0001c0025t0008g0077 a0001c0025t0008g0208 a0001c0033t0015g0178 a0001c0034t0060g0157 a0001c0039t0008g0192 a0001c0041t0040g0165 a0001c0043t0052g0124 a0001c0046t0008g0112 a0001c0047t0005g0209 a0001c0072t0005g0182 a0001c0074t0002g0188 a0002c0001t0002g0058 a0002c0001t0002g0059 a0002c0001t0002g0144 a0002c0001t0002g0145 a0002c0001t0002g0174 a0002c0001t0004g0108 a0002c0001t0004g0121 a0002c0001t0004g0154 a0002c0001t0005g0191 a0002c0001t0007g0094 a0002c0001t0012g0079 a0002c0001t0013g0019 a0002c0001t0016g0205 a0002c0001t0024g0175 a0002c0001t0031g0029 a0002c0001t0033g0010 a0002c0001t0036g0003 a0002c0001t0038g0051 a0002c0001t0055g0087 a0002c0001t0056g0074 a0002c0001t0057g0146 a0002c0001t0062g0141 a0002c0001t0073g0227 a0002c0004t0002g0125 a0002c0004t0002g0167 a0002c0004t0004g0151 a0002c0004t0006g0099 a0002c0004t0006g0203 a0002c0004t0007g0204 a0002c0004t0017g0128 a0002c0004t0017g0129 a0002c0004t0019g0048 a0002c0004t0032g0039 a0002c0004t0074g0228 a0002c0011t0006g0054 a0002c0011t0022g0103 a0002c0011t0023g0207 a0002c0011t0039g0013 a0002c0011t0042g0111 a0002c0011t0063g0053 a0002c0011t0064g0226 a0002c0022t0005g0097 a0002c0022t0005g0181 a0002c0022t0035g0040 a0002c0029t0002g0067 a0002c0029t0025g0212 a0002c0050t0006g0107 a0002c0051t0015g0090 a0002c0052t0069g0076 a0002c0055t0014g0002 a0002c0057t0022g0073 a0002c0062t0011g0091 a0002c0064t0005g0150 a0002c0065t0008g0127 a0002c0066t0006g0176 a0002c0068t0013g0032 a0002c0070t0067g0164 a0002c0071t0025g0162 a0002c0073t0051g0183 a0002c0078t0007g0184 a0005c0020t0005g0220 a0005c0020t0005g0221 a0005c0020t0017g0198 a0005c0024t0002g0135 a0005c0024t0002g0153 a0005c0026t0004g0195 a0005c0026t0058g0109 a0005c0032t0054g0060 a0005c0035t0010g0021 a0005c0036t0002g0140 a0005c0040t0004g0132 a0005c0045t0013g0005 a0005c0075t0071g0187 a0006c0016t0002g0082 a0006c0016t0002g0194 a0006c0016t0012g0201 a0006c0016t0024g0200 a0006c0016t0059g0096 a0006c0049t0015g0210 a0006c0056t0029g0033 a0006c0059t0014g0016 a0006c0060t0014g0025 a0008c0058t0005g0149 a0008c0067t0004g0083 a0010c0063t0068g0055	150	228	0.6579	c.328 others(4): Show c.3281A>G	p.Asn others(7): Show p.Asn1094Ser	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	22/22	3357/6329	3281/3288	1094/1095	chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100048930	C C	T T	missense_variant missense_variant	MODERATE	HG02071.hp1 HG02071.hp1	a0010 a0010	a0010c0063 a0010c0063	a0010c0063t0068 a0010c0063t0068	a0010c0063t0068g0055 a0010c0063t0068g0055	1	228	0.0044	c.251 others(4): Show c.2518G>A	p.Asp others(6): Show p.Asp840Asn	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/22	2594/6329	2518/3288	840/1095	chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100132077	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0011 a0011	a0011c0053 a0011c0053	a0011c0053t0001 a0011c0053t0001	a0011c0053t0001g0177 a0011c0053t0001g0177	1	228	0.0044	c.165 others(4): Show c.1651G>A	p.Ala others(6): Show p.Ala551Thr	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	12/22	1727/6329	1651/3288	551/1095	chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100152639	C C	T T	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0006 a0006	a0006c0059 a0006c0059	a0006c0059t0014 a0006c0059t0014	a0006c0059t0014g0016 a0006c0059t0014g0016	1	228	0.0044	c.144 others(4): Show c.1446G>A	p.Met others(6): Show p.Met482Ile	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	10/22	1522/6329	1446/3288	482/1095	chr15	TogoVar

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