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
ADAMTS8_chr11_130399923_130433609	130428156	G G	A A	missense_variant missense_variant	MODERATE	HG01261.hp1 NA19043.hp2 HG01261.hp1 NA19043.hp2	a0022 a0023 a0022 a0023	a0022c0046 a0023c0047 a0022c0046 a0023c0047	a0022c0046t0002 a0023c0047t0003 a0022c0046t0002 a0023c0047t0003	a0022c0046t0002g0275 a0023c0047t0003g0274 a0022c0046t0002g0275 a0023c0047t0003g0274	2	424	0.0047	c.131 others(3): Show c.131C>T	p.Thr others(5): Show p.Thr44Met	ADAMTS8	ENSG00000134917.10	transcript	ENST00000257359.7	protein_coding	1/9	454/3628	131/2670	44/889	chr11	TogoVar
ADAMTS9_chr3_64510654_64693000	64522181	C C	T T	missense_variant missense_variant	MODERATE	HG01978.hp1 HG02040.hp2 HG02273.hp2 others(7): Show HG01978.hp1 HG02040.hp2 HG02273.hp2 HG04184.hp1 NA18946.hp1 NA18974.hp2 NA19058.hp2 NA19062.hp1 NA19077.hp2 NA19082.hp1	a0007 a0010 a0013 others(1): Show a0007 a0010 a0013 a0024	a0007c0011 a0010c0012 a0013c0019 others(1): Show a0007c0011 a0010c0012 a0013c0019 a0024c0038	a0007c0011t0004 a0010c0012t0004 a0013c0019t0004 others(1): Show a0007c0011t0004 a0010c0012t0004 a0013c0019t0004 a0024c0038t0004	a0007c0011t0004g0086 a0007c0011t0004g0156 a0007c0011t0004g0157 others(7): Show a0007c0011t0004g0086 a0007c0011t0004g0156 a0007c0011t0004g0157 a0007c0011t0004g0179 a0010c0012t0004g0034 a0010c0012t0004g0039 a0010c0012t0004g0050 a0013c0019t0004g0161 a0013c0019t0004g0200 a0024c0038t0004g0174	10	286	0.0350	c.579 others(4): Show c.5798G>A	p.Arg others(7): Show p.Arg1933Gln	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	39/40	6141/7624	5798/5808	1933/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64539283	G G	C C	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0022 a0022	a0022c0036 a0022c0036	a0022c0036t0002 a0022c0036t0002	a0022c0036t0002g0214 a0022c0036t0002g0214	1	286	0.0035	c.553 others(4): Show c.5533C>G	p.Gln others(7): Show p.Gln1845Glu	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	37/40	5876/7624	5533/5808	1845/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64541139	C C	T T	missense_variant missense_variant	MODERATE	HG02723.hp1 HG03453.hp1 HG02723.hp1 HG03453.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0006 a0012c0018t0006	a0012c0018t0006g0173 a0012c0018t0006g0243 a0012c0018t0006g0173 a0012c0018t0006g0243	2	286	0.0070	c.547 others(4): Show c.5477G>A	p.Ser others(7): Show p.Ser1826Asn	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	36/40	5820/7624	5477/5808	1826/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64541336	C C	G G	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02040.hp2	a0024 a0024	a0024c0038 a0024c0038	a0024c0038t0004 a0024c0038t0004	a0024c0038t0004g0174 a0024c0038t0004g0174	1	286	0.0035	c.537 others(4): Show c.5371G>C	p.Glu others(7): Show p.Glu1791Gln	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	35/40	5714/7624	5371/5808	1791/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64541599	T T	C C	missense_variant missense_variant	MODERATE	HG01978.hp1 HG02040.hp2 HG02273.hp2 others(9): Show HG01978.hp1 HG02040.hp2 HG02273.hp2 HG04184.hp1 NA18946.hp1 NA18965.hp1 NA18974.hp2 NA18991.hp2 NA19058.hp2 NA19062.hp1 NA19077.hp2 NA19082.hp1	a0007 a0010 a0013 others(3): Show a0007 a0010 a0013 a0020 a0023 a0024	a0007c0011 a0010c0012 a0013c0019 others(3): Show a0007c0011 a0010c0012 a0013c0019 a0020c0034 a0023c0039 a0024c0038	a0007c0011t0004 a0010c0012t0004 a0013c0019t0004 others(3): Show a0007c0011t0004 a0010c0012t0004 a0013c0019t0004 a0020c0034t0001 a0023c0039t0002 a0024c0038t0004	a0007c0011t0004g0086 a0007c0011t0004g0156 a0007c0011t0004g0157 others(9): Show a0007c0011t0004g0086 a0007c0011t0004g0156 a0007c0011t0004g0157 a0007c0011t0004g0179 a0010c0012t0004g0034 a0010c0012t0004g0039 a0010c0012t0004g0050 a0013c0019t0004g0161 a0013c0019t0004g0200 a0020c0034t0001g0140 a0023c0039t0002g0146 a0024c0038t0004g0174	12	286	0.0420	c.521 others(4): Show c.5219A>G	p.Lys others(7): Show p.Lys1740Arg	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	34/40	5562/7624	5219/5808	1740/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64546800	G G	C C	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00738.hp2 HG01071.hp2 others(51): Show HG00621.hp2 HG00738.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02895.hp2 HG02970.hp1 HG03041.hp1 HG03195.hp2 HG03453.hp2 NA18522.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18972.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18995.hp2 NA19004.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp1 NA19084.hp1 NA19240.hp2	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0016 a0021 a0025 a0028	a0002c0002 a0004c0005 a0004c0026 others(5): Show a0002c0002 a0004c0005 a0004c0026 a0005c0008 a0016c0016 a0021c0035 a0025c0033 a0028c0043	a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 others(12): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0002c0002t0013 a0004c0005t0001 a0004c0005t0003 a0004c0005t0015 a0004c0026t0001 a0005c0008t0001 a0005c0008t0002 a0005c0008t0003 a0016c0016t0003 a0021c0035t0003 a0025c0033t0003 a0028c0043t0003	a0002c0002t0001g0064 a0002c0002t0001g0121 a0002c0002t0001g0220 others(51): Show a0002c0002t0001g0064 a0002c0002t0001g0121 a0002c0002t0001g0220 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0003g0074 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0107 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0138 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0144 a0002c0002t0003g0149 a0002c0002t0003g0150 a0002c0002t0003g0151 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0003g0154 a0002c0002t0003g0155 a0002c0002t0003g0160 a0002c0002t0003g0165 a0002c0002t0003g0185 a0002c0002t0003g0190 a0002c0002t0003g0193 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0003g0260 a0002c0002t0008g0009 a0002c0002t0013g0016 a0004c0005t0001g0030 a0004c0005t0001g0032 a0004c0005t0001g0036 a0004c0005t0003g0040 a0004c0005t0003g0046 a0004c0005t0003g0047 a0004c0005t0015g0010 a0004c0026t0001g0029 a0005c0008t0001g0094 a0005c0008t0002g0175 a0005c0008t0002g0176 a0005c0008t0002g0188 a0005c0008t0003g0192 a0016c0016t0003g0048 a0016c0016t0003g0049 a0021c0035t0003g0075 a0025c0033t0003g0261 a0028c0043t0003g0194	54	286	0.1888	c.502 others(4): Show c.5022C>G	p.Asp others(7): Show p.Asp1674Glu	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	32/40	5365/7624	5022/5808	1674/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64550972	C C	T T	missense_variant missense_variant	MODERATE	NA18953.hp1 NA18984.hp1 NA18985.hp2 others(2): Show NA18953.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA19066.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0002 a0005c0008t0003 a0005c0008t0001 a0005c0008t0002 a0005c0008t0003	a0005c0008t0001g0094 a0005c0008t0002g0175 a0005c0008t0002g0176 others(2): Show a0005c0008t0001g0094 a0005c0008t0002g0175 a0005c0008t0002g0176 a0005c0008t0002g0188 a0005c0008t0003g0192	5	286	0.0175	c.478 others(4): Show c.4789G>A	p.Val others(7): Show p.Val1597Met	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	31/40	5132/7624	4789/5808	1597/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64561712	C C	A A	missense_variant missense_variant	MODERATE	NA19070.hp2 NA19070.hp2	a0026 a0026	a0026c0044 a0026c0044	a0026c0044t0001 a0026c0044t0001	a0026c0044t0001g0098 a0026c0044t0001g0098	1	286	0.0035	c.456 others(4): Show c.4564G>T	p.Val others(7): Show p.Val1522Leu	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	30/40	4907/7624	4564/5808	1522/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64594392	C C	T T	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01255.hp1 HG01261.hp2 others(14): Show HG01123.hp1 HG01255.hp1 HG01261.hp2 HG01978.hp1 HG02273.hp2 NA18942.hp2 NA18946.hp1 NA18955.hp2 NA18974.hp2 NA18983.hp1 NA18985.hp1 NA18991.hp2 NA19058.hp2 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1	a0006 a0007 a0010 others(4): Show a0006 a0007 a0010 a0015 a0016 a0020 a0021	a0006c0010 a0007c0011 a0010c0012 others(4): Show a0006c0010 a0007c0011 a0010c0012 a0015c0015 a0016c0016 a0020c0034 a0021c0035	a0006c0010t0001 a0006c0010t0002 a0007c0011t0004 others(5): Show a0006c0010t0001 a0006c0010t0002 a0007c0011t0004 a0010c0012t0004 a0015c0015t0002 a0016c0016t0003 a0020c0034t0001 a0021c0035t0003	a0006c0010t0001g0245 a0006c0010t0001g0264 a0006c0010t0001g0265 others(14): Show a0006c0010t0001g0245 a0006c0010t0001g0264 a0006c0010t0001g0265 a0006c0010t0002g0169 a0007c0011t0004g0086 a0007c0011t0004g0156 a0007c0011t0004g0157 a0007c0011t0004g0179 a0010c0012t0004g0034 a0010c0012t0004g0039 a0010c0012t0004g0050 a0015c0015t0002g0053 a0015c0015t0002g0055 a0016c0016t0003g0048 a0016c0016t0003g0049 a0020c0034t0001g0140 a0021c0035t0003g0075	17	286	0.0594	c.422 others(4): Show c.4222G>A	p.Val others(7): Show p.Val1408Ile	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	28/40	4565/7624	4222/5808	1408/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64601994	G G	A A	missense_variant missense_variant	MODERATE	HG02155.hp1 HG02155.hp1	a0019 a0019	a0019c0040 a0019c0040	a0019c0040t0002 a0019c0040t0002	a0019c0040t0002g0148 a0019c0040t0002g0148	1	286	0.0035	c.396 others(4): Show c.3967C>T	p.Arg others(7): Show p.Arg1323Cys	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	26/40	4310/7624	3967/5808	1323/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64604038	C C	G G	missense_variant missense_variant	MODERATE	NA19084.hp1 NA19084.hp1	a0025 a0025	a0025c0033 a0025c0033	a0025c0033t0003 a0025c0033t0003	a0025c0033t0003g0261 a0025c0033t0003g0261	1	286	0.0035	c.363 others(4): Show c.3631G>C	p.Asp others(7): Show p.Asp1211His	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	25/40	3974/7624	3631/5808	1211/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64604297	G G	A A	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03688.hp2 HG03491.hp1 HG03688.hp2	a0014 a0014	a0014c0041 a0014c0054 a0014c0041 a0014c0054	a0014c0041t0001 a0014c0054t0001 a0014c0041t0001 a0014c0054t0001	a0014c0041t0001g0280 a0014c0054t0001g0283 a0014c0041t0001g0280 a0014c0054t0001g0283	2	286	0.0070	c.350 others(4): Show c.3509C>T	p.Ala others(7): Show p.Ala1170Val	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	24/40	3852/7624	3509/5808	1170/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64615994	T T	C C	missense_variant missense_variant	MODERATE	HG00609.hp2 NA19070.hp1 NA19070.hp2 HG00609.hp2 NA19070.hp1 NA19070.hp2	a0026 a0027 a0028 a0026 a0027 a0028	a0026c0044 a0027c0042 a0028c0043 a0026c0044 a0027c0042 a0028c0043	a0026c0044t0001 a0027c0042t0002 a0028c0043t0003 a0026c0044t0001 a0027c0042t0002 a0028c0043t0003	a0026c0044t0001g0098 a0027c0042t0002g0177 a0028c0043t0003g0194 a0026c0044t0001g0098 a0027c0042t0002g0177 a0028c0043t0003g0194	3	286	0.0105	c.299 others(4): Show c.2990A>G	p.Asn others(6): Show p.Asn997Ser	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	20/40	3333/7624	2990/5808	997/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64616083	C C	G G	missense_variant missense_variant	MODERATE	NA18988.hp1 NA18988.hp1	a0029 a0029	a0029c0032 a0029c0032	a0029c0032t0001 a0029c0032t0001	a0029c0032t0001g0259 a0029c0032t0001g0259	1	286	0.0035	c.290 others(4): Show c.2901G>C	p.Arg others(6): Show p.Arg967Ser	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	20/40	3244/7624	2901/5808	967/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64633727	T T	C C	missense_variant missense_variant	MODERATE	HG00733.hp1 HG00733.hp1	a0030 a0030	a0030c0046 a0030c0046	a0030c0046t0002 a0030c0046t0002	a0030c0046t0002g0252 a0030c0046t0002g0252	1	286	0.0035	c.200 others(4): Show c.2009A>G	p.Asn others(6): Show p.Asn670Ser	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	13/40	2352/7624	2009/5808	670/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64641870	T T	C C	missense_variant missense_variant	MODERATE	HG00741.hp1 HG00741.hp1	a0031 a0031	a0031c0027 a0031c0027	a0031c0027t0002 a0031c0027t0002	a0031c0027t0002g0051 a0031c0027t0002g0051	1	286	0.0035	c.183 others(4): Show c.1834A>G	p.Ile others(6): Show p.Ile612Val	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	12/40	2177/7624	1834/5808	612/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64641911	C C	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02809.hp2 HG02970.hp2 HG02055.hp1 HG02809.hp2 HG02970.hp2	a0009 a0009	a0009c0028 a0009c0029 a0009c0047 a0009c0028 a0009c0029 a0009c0047	a0009c0028t0007 a0009c0029t0002 a0009c0047t0001 a0009c0028t0007 a0009c0029t0002 a0009c0047t0001	a0009c0028t0007g0275 a0009c0029t0002g0237 a0009c0047t0001g0274 a0009c0028t0007g0275 a0009c0029t0002g0237 a0009c0047t0001g0274	3	286	0.0105	c.179 others(4): Show c.1793G>T	p.Gly others(6): Show p.Gly598Val	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	12/40	2136/7624	1793/5808	598/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64681255	G G	A A	missense_variant missense_variant	MODERATE	HG02083.hp1 HG02129.hp1 NA19085.hp2 HG02083.hp1 HG02129.hp1 NA19085.hp2	a0008 a0008	a0008c0021 a0008c0049 a0008c0021 a0008c0049	a0008c0021t0002 a0008c0049t0001 a0008c0021t0002 a0008c0049t0001	a0008c0021t0002g0134 a0008c0021t0002g0135 a0008c0049t0001g0136 a0008c0021t0002g0134 a0008c0021t0002g0135 a0008c0049t0001g0136	3	286	0.0105	c.625 others(3): Show c.625C>T	p.Arg others(6): Show p.Arg209Cys	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	3/40	968/7624	625/5808	209/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64681301	T T	A A	missense_variant missense_variant	MODERATE	NA18975.hp1 NA18975.hp1	a0017 a0017	a0017c0050 a0017c0050	a0017c0050t0001 a0017c0050t0001	a0017c0050t0001g0130 a0017c0050t0001g0130	1	286	0.0035	c.579 others(3): Show c.579A>T	p.Glu others(6): Show p.Glu193Asp	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	3/40	922/7624	579/5808	193/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64686798	A A	T T	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00735.hp2 HG00738.hp2 others(38): Show HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01123.hp1 HG01261.hp2 HG01884.hp2 HG01952.hp2 HG01978.hp1 HG02145.hp2 HG02148.hp1 HG02258.hp2 HG02300.hp2 HG02698.hp2 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03195.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18942.hp2 NA18956.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18984.hp2 NA18995.hp1 NA19001.hp1 NA19003.hp1 NA19010.hp1 NA19058.hp1 NA19077.hp2 NA19085.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1	a0003 a0004 a0010 others(3): Show a0003 a0004 a0010 a0015 a0016 a0031	a0003c0003 a0003c0017 a0003c0024 others(7): Show a0003c0003 a0003c0017 a0003c0024 a0003c0025 a0004c0005 a0004c0026 a0010c0012 a0015c0015 a0016c0016 a0031c0027	a0003c0003t0001 a0003c0003t0002 a0003c0003t0007 others(12): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0007 a0003c0003t0009 a0003c0017t0006 a0003c0024t0001 a0003c0025t0001 a0004c0005t0001 a0004c0005t0003 a0004c0005t0015 a0004c0026t0001 a0010c0012t0004 a0015c0015t0002 a0016c0016t0003 a0031c0027t0002	a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 others(38): Show a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0033 a0003c0003t0001g0035 a0003c0003t0001g0041 a0003c0003t0001g0052 a0003c0003t0001g0054 a0003c0003t0001g0059 a0003c0003t0002g0024 a0003c0003t0002g0025 a0003c0003t0002g0031 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0060 a0003c0003t0007g0037 a0003c0003t0007g0038 a0003c0003t0009g0043 a0003c0003t0009g0044 a0003c0003t0009g0045 a0003c0017t0006g0027 a0003c0017t0006g0028 a0003c0024t0001g0042 a0003c0025t0001g0026 a0004c0005t0001g0030 a0004c0005t0001g0032 a0004c0005t0001g0036 a0004c0005t0003g0040 a0004c0005t0003g0046 a0004c0005t0003g0047 a0004c0005t0015g0010 a0004c0026t0001g0029 a0010c0012t0004g0034 a0010c0012t0004g0039 a0010c0012t0004g0050 a0015c0015t0002g0053 a0015c0015t0002g0055 a0016c0016t0003g0048 a0016c0016t0003g0049 a0031c0027t0002g0051	41	286	0.1434	c.286 others(3): Show c.286T>A	p.Ser others(5): Show p.Ser96Thr	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	2/40	629/7624	286/5808	96/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64686825	C C	A A	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02622.hp1 HG03486.hp2 others(1): Show HG02572.hp2 HG02622.hp1 HG03486.hp2 HG03540.hp1	a0011 a0032 a0011 a0032	a0011c0022 a0011c0053 a0032c0052 a0011c0022 a0011c0053 a0032c0052	a0011c0022t0001 a0011c0053t0002 a0032c0052t0002 a0011c0022t0001 a0011c0053t0002 a0032c0052t0002	a0011c0022t0001g0270 a0011c0022t0001g0271 a0011c0053t0002g0272 others(1): Show a0011c0022t0001g0270 a0011c0022t0001g0271 a0011c0053t0002g0272 a0032c0052t0002g0269	4	286	0.0140	c.259 others(3): Show c.259G>T	p.Ala others(5): Show p.Ala87Ser	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	2/40	602/7624	259/5808	87/1935	chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64686858	T T	C C	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02622.hp1 HG03486.hp2 HG02572.hp2 HG02622.hp1 HG03486.hp2	a0011 a0011	a0011c0022 a0011c0053 a0011c0022 a0011c0053	a0011c0022t0001 a0011c0053t0002 a0011c0022t0001 a0011c0053t0002	a0011c0022t0001g0270 a0011c0022t0001g0271 a0011c0053t0002g0272 a0011c0022t0001g0270 a0011c0022t0001g0271 a0011c0053t0002g0272	3	286	0.0105	c.226 others(3): Show c.226A>G	p.Ile others(5): Show p.Ile76Val	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	2/40	569/7624	226/5808	76/1935	chr3	TogoVar
ADAMTSL1_chr9_18469153_18915950	18504868	C C	G G	missense_variant missense_variant	MODERATE	HG02451.hp2 HG03098.hp2 HG02451.hp2 HG03098.hp2	a0028 a0029 a0028 a0029	a0028c0082 a0029c0081 a0028c0082 a0029c0081	a0028c0082t0004 a0029c0081t0003 a0028c0082t0004 a0029c0081t0003	a0028c0082t0004g0003 a0029c0081t0003g0002 a0028c0082t0004g0003 a0029c0081t0003g0002	2	218	0.0092	c.103 others(3): Show c.103C>G	p.Leu others(5): Show p.Leu35Val	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	2/29	183/7771	103/5289	35/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18504913	G G	A A	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0027 a0027	a0027c0028 a0027c0028	a0027c0028t0010 a0027c0028t0010	a0027c0028t0010g0007 a0027c0028t0010g0007	1	218	0.0046	c.148 others(3): Show c.148G>A	p.Gly others(5): Show p.Gly50Arg	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	2/29	228/7771	148/5289	50/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18635973	G G	A A	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02698.hp1	a0010 a0010	a0010c0029 a0010c0029	a0010c0029t0035 a0010c0029t0035	a0010c0029t0035g0142 a0010c0029t0035g0142	1	218	0.0046	c.632 others(3): Show c.632G>A	p.Gly others(6): Show p.Gly211Glu	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	6/29	712/7771	632/5289	211/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18635988	G G	A A	missense_variant missense_variant	MODERATE	NA18955.hp2 NA18955.hp2	a0011 a0011	a0011c0058 a0011c0058	a0011c0058t0001 a0011c0058t0001	a0011c0058t0001g0068 a0011c0058t0001g0068	1	218	0.0046	c.647 others(3): Show c.647G>A	p.Arg others(6): Show p.Arg216His	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	6/29	727/7771	647/5289	216/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18639302	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp1 HG02109.hp2 HG02717.hp1 others(6): Show HG01167.hp1 HG02109.hp2 HG02717.hp1 HG02818.hp1 HG02897.hp1 HG02965.hp2 HG03195.hp1 HG03209.hp1 NA21309.hp1	a0005 a0008 a0005 a0008	a0005c0013 a0005c0059 a0005c0060 others(2): Show a0005c0013 a0005c0059 a0005c0060 a0008c0017 a0008c0030	a0005c0013t0003 a0005c0013t0010 a0005c0013t0019 others(6): Show a0005c0013t0003 a0005c0013t0010 a0005c0013t0019 a0005c0059t0013 a0005c0060t0001 a0008c0017t0002 a0008c0017t0004 a0008c0017t0020 a0008c0030t0003	a0005c0013t0003g0117 a0005c0013t0010g0008 a0005c0013t0019g0158 others(6): Show a0005c0013t0003g0117 a0005c0013t0010g0008 a0005c0013t0019g0158 a0005c0059t0013g0019 a0005c0060t0001g0048 a0008c0017t0002g0042 a0008c0017t0004g0157 a0008c0017t0020g0073 a0008c0030t0003g0012	9	218	0.0413	c.725 others(3): Show c.725G>A	p.Ser others(6): Show p.Ser242Asn	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	7/29	805/7771	725/5289	242/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18706847	G G	A A	missense_variant missense_variant	MODERATE	HG03139.hp1 HG03139.hp1	a0012 a0012	a0012c0031 a0012c0031	a0012c0031t0003 a0012c0031t0003	a0012c0031t0003g0005 a0012c0031t0003g0005	1	218	0.0046	c.167 others(4): Show c.1675G>A	p.Val others(6): Show p.Val559Met	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	14/29	1755/7771	1675/5289	559/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18706988	G G	A A	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03491.hp1	a0026 a0026	a0026c0032 a0026c0032	a0026c0032t0004 a0026c0032t0004	a0026c0032t0004g0105 a0026c0032t0004g0105	1	218	0.0046	c.181 others(4): Show c.1816G>A	p.Asp others(6): Show p.Asp606Asn	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	14/29	1896/7771	1816/5289	606/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18721586	G G	A A	missense_variant missense_variant	MODERATE	HG03195.hp2 HG03195.hp2	a0025 a0025	a0025c0033 a0025c0033	a0025c0033t0024 a0025c0033t0024	a0025c0033t0024g0165 a0025c0033t0024g0165	1	218	0.0046	c.192 others(4): Show c.1927G>A	p.Ala others(6): Show p.Ala643Thr	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	15/29	2007/7771	1927/5289	643/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18721635	A A	G G	missense_variant missense_variant	MODERATE	NA18906.hp1 NA18906.hp1	a0024 a0024	a0024c0044 a0024c0044	a0024c0044t0014 a0024c0044t0014	a0024c0044t0014g0123 a0024c0044t0014g0123	1	218	0.0046	c.197 others(4): Show c.1976A>G	p.Lys others(6): Show p.Lys659Arg	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	15/29	2056/7771	1976/5289	659/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18753480	C C	T T	missense_variant missense_variant	MODERATE	HG02300.hp2 HG02300.hp2	a0013 a0013	a0013c0072 a0013c0072	a0013c0072t0002 a0013c0072t0002	a0013c0072t0002g0040 a0013c0072t0002g0040	1	218	0.0046	c.218 others(4): Show c.2189C>T	p.Pro others(6): Show p.Pro730Leu	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	16/29	2269/7771	2189/5289	730/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18775812	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00408.hp2 HG00544.hp2 others(91): Show HG00099.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02572.hp1 HG02572.hp2 HG02818.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18944.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18984.hp1 NA18988.hp2 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19006.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19074.hp1 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(11): Show a0002 a0003 a0004 a0006 a0008 a0009 a0011 a0014 a0015 a0016 a0017 a0018 a0019 a0026	a0002c0001 a0002c0004 a0002c0016 others(35): Show a0002c0001 a0002c0004 a0002c0016 a0002c0018 a0002c0034 a0002c0035 a0002c0036 a0002c0037 a0002c0043 a0002c0045 a0002c0047 a0002c0053 a0002c0064 a0002c0074 a0002c0078 a0002c0079 a0003c0011 a0003c0012 a0003c0019 a0003c0020 a0004c0009 a0004c0015 a0004c0048 a0004c0075 a0006c0014 a0006c0061 a0006c0073 a0008c0017 a0008c0030 a0009c0025 a0011c0058 a0014c0046 a0015c0062 a0016c0063 a0017c0065 a0018c0066 a0019c0067 a0026c0032	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(64): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0007 a0002c0001t0009 a0002c0001t0012 a0002c0001t0023 a0002c0001t0028 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0004t0008 a0002c0004t0009 a0002c0004t0012 a0002c0004t0022 a0002c0016t0002 a0002c0016t0006 a0002c0018t0003 a0002c0018t0004 a0002c0034t0003 a0002c0035t0002 a0002c0036t0001 a0002c0037t0004 a0002c0043t0002 a0002c0045t0007 a0002c0047t0026 a0002c0053t0003 a0002c0064t0006 a0002c0074t0003 a0002c0078t0001 a0002c0079t0003 a0003c0011t0001 a0003c0011t0002 a0003c0011t0007 a0003c0011t0021 a0003c0012t0001 a0003c0019t0001 a0003c0019t0002 a0003c0019t0006 a0003c0020t0001 a0003c0020t0002 a0004c0009t0002 a0004c0009t0003 a0004c0009t0009 a0004c0015t0002 a0004c0015t0004 a0004c0015t0025 a0004c0048t0004 a0004c0075t0002 a0006c0014t0003 a0006c0061t0004 a0006c0073t0008 a0008c0017t0002 a0008c0017t0004 a0008c0017t0020 a0008c0030t0003 a0009c0025t0001 a0011c0058t0001 a0014c0046t0002 a0015c0062t0002 a0016c0063t0017 a0017c0065t0034 a0018c0066t0001 a0019c0067t0002 a0026c0032t0004	a0002c0001t0001g0023 a0002c0001t0001g0160 a0002c0001t0001g0177 others(91): Show a0002c0001t0001g0023 a0002c0001t0001g0160 a0002c0001t0001g0177 a0002c0001t0001g0185 a0002c0001t0001g0195 a0002c0001t0001g0210 a0002c0001t0002g0190 a0002c0001t0002g0200 a0002c0001t0002g0203 a0002c0001t0003g0178 a0002c0001t0003g0192 a0002c0001t0003g0217 a0002c0001t0004g0036 a0002c0001t0004g0038 a0002c0001t0004g0213 a0002c0001t0007g0208 a0002c0001t0009g0010 a0002c0001t0012g0145 a0002c0001t0023g0016 a0002c0001t0028g0028 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0099 a0002c0004t0001g0130 a0002c0004t0001g0179 a0002c0004t0002g0050 a0002c0004t0003g0043 a0002c0004t0003g0110 a0002c0004t0006g0082 a0002c0004t0006g0113 a0002c0004t0008g0091 a0002c0004t0009g0098 a0002c0004t0012g0124 a0002c0004t0022g0112 a0002c0016t0002g0151 a0002c0016t0002g0163 a0002c0016t0006g0193 a0002c0018t0003g0086 a0002c0018t0004g0059 a0002c0018t0004g0075 a0002c0034t0003g0122 a0002c0035t0002g0147 a0002c0036t0001g0136 a0002c0037t0004g0168 a0002c0043t0002g0159 a0002c0045t0007g0014 a0002c0047t0026g0115 a0002c0053t0003g0120 a0002c0064t0006g0077 a0002c0074t0003g0034 a0002c0078t0001g0058 a0002c0079t0003g0021 a0003c0011t0001g0114 a0003c0011t0002g0166 a0003c0011t0007g0183 a0003c0011t0021g0204 a0003c0012t0001g0087 a0003c0012t0001g0100 a0003c0012t0001g0107 a0003c0012t0001g0180 a0003c0019t0001g0135 a0003c0019t0002g0090 a0003c0019t0006g0143 a0003c0020t0001g0205 a0003c0020t0002g0197 a0004c0009t0002g0030 a0004c0009t0002g0094 a0004c0009t0002g0218 a0004c0009t0003g0101 a0004c0009t0009g0102 a0004c0015t0002g0201 a0004c0015t0004g0138 a0004c0015t0025g0037 a0004c0048t0004g0141 a0004c0075t0002g0031 a0006c0014t0003g0026 a0006c0014t0003g0027 a0006c0014t0003g0144 a0006c0061t0004g0095 a0006c0073t0008g0071 a0008c0017t0002g0042 a0008c0017t0004g0157 a0008c0017t0020g0073 a0008c0030t0003g0012 a0009c0025t0001g0041 a0009c0025t0001g0096 a0011c0058t0001g0068 a0014c0046t0002g0202 a0015c0062t0002g0088 a0016c0063t0017g0106 a0017c0065t0034g0132 a0018c0066t0001g0053 a0019c0067t0002g0079 a0026c0032t0004g0105	94	218	0.4312	c.246 others(4): Show c.2467C>A	p.Leu others(6): Show p.Leu823Ile	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	18/29	2547/7771	2467/5289	823/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18776786	G G	A A	missense_variant missense_variant	MODERATE	HG01256.hp2 HG01358.hp2 HG01517.hp1 others(2): Show HG01256.hp2 HG01358.hp2 HG01517.hp1 HG03490.hp2 HG04115.hp1	a0006 a0006	a0006c0014 a0006c0061 a0006c0073 a0006c0014 a0006c0061 a0006c0073	a0006c0014t0003 a0006c0061t0004 a0006c0073t0008 a0006c0014t0003 a0006c0061t0004 a0006c0073t0008	a0006c0014t0003g0026 a0006c0014t0003g0027 a0006c0014t0003g0144 others(2): Show a0006c0014t0003g0026 a0006c0014t0003g0027 a0006c0014t0003g0144 a0006c0061t0004g0095 a0006c0073t0008g0071	5	218	0.0229	c.255 others(4): Show c.2557G>A	p.Gly others(6): Show p.Gly853Arg	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	19/29	2637/7771	2557/5289	853/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18776973	G G	A A	missense_variant missense_variant	MODERATE	HG02040.hp2 NA18944.hp1 HG02040.hp2 NA18944.hp1	a0014 a0015 a0014 a0015	a0014c0046 a0015c0062 a0014c0046 a0015c0062	a0014c0046t0002 a0015c0062t0002 a0014c0046t0002 a0015c0062t0002	a0014c0046t0002g0202 a0015c0062t0002g0088 a0014c0046t0002g0202 a0015c0062t0002g0088	2	218	0.0092	c.274 others(4): Show c.2744G>A	p.Gly others(6): Show p.Gly915Asp	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	19/29	2824/7771	2744/5289	915/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18776999	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01243.hp1	a0020 a0020	a0020c0076 a0020c0076	a0020c0076t0027 a0020c0076t0027	a0020c0076t0027g0072 a0020c0076t0027g0072	1	218	0.0046	c.277 others(4): Show c.2770G>A	p.Val others(6): Show p.Val924Ile	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	19/29	2850/7771	2770/5289	924/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18777177	G G	C C	missense_variant missense_variant	MODERATE	HG00597.hp1 HG00597.hp1	a0016 a0016	a0016c0063 a0016c0063	a0016c0063t0017 a0016c0063t0017	a0016c0063t0017g0106 a0016c0063t0017g0106	1	218	0.0046	c.294 others(4): Show c.2948G>C	p.Gly others(6): Show p.Gly983Ala	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	19/29	3028/7771	2948/5289	983/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18777198	A A	C C	missense_variant missense_variant	MODERATE	HG00621.hp1 HG01255.hp2 HG01256.hp1 others(18): Show HG00621.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02129.hp1 HG03490.hp1 HG03492.hp1 HG04115.hp2 HG06807.hp1 NA18944.hp1 NA18971.hp1 NA18984.hp1 NA18992.hp2 NA18998.hp1 NA19058.hp1 NA19058.hp2 NA19074.hp1 NA19086.hp2	a0003 a0009 a0014 others(5): Show a0003 a0009 a0014 a0015 a0017 a0018 a0019 a0021	a0003c0011 a0003c0012 a0003c0019 others(8): Show a0003c0011 a0003c0012 a0003c0019 a0003c0020 a0009c0025 a0014c0046 a0015c0062 a0017c0065 a0018c0066 a0019c0067 a0021c0052	a0003c0011t0001 a0003c0011t0002 a0003c0011t0007 others(14): Show a0003c0011t0001 a0003c0011t0002 a0003c0011t0007 a0003c0011t0021 a0003c0012t0001 a0003c0019t0001 a0003c0019t0002 a0003c0019t0006 a0003c0020t0001 a0003c0020t0002 a0009c0025t0001 a0014c0046t0002 a0015c0062t0002 a0017c0065t0034 a0018c0066t0001 a0019c0067t0002 a0021c0052t0002	a0003c0011t0001g0114 a0003c0011t0002g0166 a0003c0011t0007g0183 others(18): Show a0003c0011t0001g0114 a0003c0011t0002g0166 a0003c0011t0007g0183 a0003c0011t0021g0204 a0003c0012t0001g0087 a0003c0012t0001g0100 a0003c0012t0001g0107 a0003c0012t0001g0180 a0003c0019t0001g0135 a0003c0019t0002g0090 a0003c0019t0006g0143 a0003c0020t0001g0205 a0003c0020t0002g0197 a0009c0025t0001g0041 a0009c0025t0001g0096 a0014c0046t0002g0202 a0015c0062t0002g0088 a0017c0065t0034g0132 a0018c0066t0001g0053 a0019c0067t0002g0079 a0021c0052t0002g0139	21	218	0.0963	c.296 others(4): Show c.2969A>C	p.Glu others(6): Show p.Glu990Ala	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	19/29	3049/7771	2969/5289	990/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18777270	C C	T T	missense_variant missense_variant	MODERATE	HG01256.hp1 HG03490.hp1 HG03492.hp1 others(1): Show HG01256.hp1 HG03490.hp1 HG03492.hp1 HG04115.hp2	a0009 a0018 a0019 a0009 a0018 a0019	a0009c0025 a0018c0066 a0019c0067 a0009c0025 a0018c0066 a0019c0067	a0009c0025t0001 a0018c0066t0001 a0019c0067t0002 a0009c0025t0001 a0018c0066t0001 a0019c0067t0002	a0009c0025t0001g0041 a0009c0025t0001g0096 a0018c0066t0001g0053 others(1): Show a0009c0025t0001g0041 a0009c0025t0001g0096 a0018c0066t0001g0053 a0019c0067t0002g0079	4	218	0.0184	c.304 others(4): Show c.3041C>T	p.Ala others(7): Show p.Ala1014Val	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	19/29	3121/7771	3041/5289	1014/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18777306	C C	T T	missense_variant missense_variant	MODERATE	HG01256.hp1 HG04115.hp2 HG01256.hp1 HG04115.hp2	a0018 a0019 a0018 a0019	a0018c0066 a0019c0067 a0018c0066 a0019c0067	a0018c0066t0001 a0019c0067t0002 a0018c0066t0001 a0019c0067t0002	a0018c0066t0001g0053 a0019c0067t0002g0079 a0018c0066t0001g0053 a0019c0067t0002g0079	2	218	0.0092	c.307 others(4): Show c.3077C>T	p.Ser others(7): Show p.Ser1026Phe	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	19/29	3157/7771	3077/5289	1026/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18777335	G G	A A	missense_variant missense_variant	MODERATE	HG04228.hp1 HG04228.hp1	a0023 a0023	a0023c0038 a0023c0038	a0023c0038t0016 a0023c0038t0016	a0023c0038t0016g0207 a0023c0038t0016g0207	1	218	0.0046	c.310 others(4): Show c.3106G>A	p.Gly others(7): Show p.Gly1036Arg	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	19/29	3186/7771	3106/5289	1036/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18777857	C C	A A	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03098.hp2	a0029 a0029	a0029c0081 a0029c0081	a0029c0081t0003 a0029c0081t0003	a0029c0081t0003g0002 a0029c0081t0003g0002	1	218	0.0046	c.362 others(4): Show c.3628C>A	p.Pro others(7): Show p.Pro1210Thr	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	19/29	3708/7771	3628/5289	1210/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18826313	A A	G G	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02040.hp2	a0014 a0014	a0014c0046 a0014c0046	a0014c0046t0002 a0014c0046t0002	a0014c0046t0002g0202 a0014c0046t0002g0202	1	218	0.0046	c.396 others(4): Show c.3964A>G	p.Arg others(7): Show p.Arg1322Gly	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	22/29	4044/7771	3964/5289	1322/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18829930	C C	G G	missense_variant missense_variant	MODERATE	HG02129.hp1 HG02129.hp1	a0017 a0017	a0017c0065 a0017c0065	a0017c0065t0034 a0017c0065t0034	a0017c0065t0034g0132 a0017c0065t0034g0132	1	218	0.0046	c.420 others(4): Show c.4202C>G	p.Pro others(7): Show p.Pro1401Arg	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	23/29	4282/7771	4202/5289	1401/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18829954	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00558.hp2 HG00733.hp1 others(14): Show HG00099.hp2 HG00558.hp2 HG00733.hp1 HG01074.hp2 HG01081.hp2 HG01168.hp2 HG01256.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01978.hp2 HG02683.hp2 HG02698.hp1 HG03239.hp1 HG03654.hp1 NA18969.hp2 homoSapiens_chm13v2.hp1	a0004 a0007 a0010 others(1): Show a0004 a0007 a0010 a0019	a0004c0009 a0004c0015 a0004c0048 others(7): Show a0004c0009 a0004c0015 a0004c0048 a0004c0075 a0007c0022 a0007c0050 a0007c0071 a0007c0077 a0010c0029 a0019c0067	a0004c0009t0002 a0004c0009t0003 a0004c0009t0009 others(12): Show a0004c0009t0002 a0004c0009t0003 a0004c0009t0009 a0004c0015t0002 a0004c0015t0004 a0004c0015t0025 a0004c0048t0004 a0004c0075t0002 a0007c0022t0001 a0007c0022t0002 a0007c0050t0002 a0007c0071t0002 a0007c0077t0001 a0010c0029t0035 a0019c0067t0002	a0004c0009t0002g0030 a0004c0009t0002g0094 a0004c0009t0002g0218 others(14): Show a0004c0009t0002g0030 a0004c0009t0002g0094 a0004c0009t0002g0218 a0004c0009t0003g0101 a0004c0009t0009g0102 a0004c0015t0002g0201 a0004c0015t0004g0138 a0004c0015t0025g0037 a0004c0048t0004g0141 a0004c0075t0002g0031 a0007c0022t0001g0169 a0007c0022t0002g0109 a0007c0050t0002g0198 a0007c0071t0002g0104 a0007c0077t0001g0032 a0010c0029t0035g0142 a0019c0067t0002g0079	17	218	0.0780	c.422 others(4): Show c.4226A>G	p.Asp others(7): Show p.Asp1409Gly	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	23/29	4306/7771	4226/5289	1409/1762	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18892522	G G	A A	missense_variant missense_variant	MODERATE	HG03516.hp2 HG03516.hp2	a0022 a0022	a0022c0041 a0022c0041	a0022c0041t0033 a0022c0041t0033	a0022c0041t0033g0013 a0022c0041t0033g0013	1	218	0.0046	c.477 others(4): Show c.4777G>A	p.Ala others(7): Show p.Ala1593Thr	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	26/29	4857/7771	4777/5289	1593/1762	chr9	TogoVar
ADAMTSL2_chr9_133529704_133580519	133536800	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02647.hp2 HG02723.hp2 HG02647.hp2 HG02723.hp2	a0003 a0003	a0003c0036 a0003c0037 a0003c0036 a0003c0037	a0003c0036t0001 a0003c0037t0001 a0003c0036t0001 a0003c0037t0001	a0003c0036t0001g0113 a0003c0037t0001g0114 a0003c0036t0001g0113 a0003c0037t0001g0114	2	152	0.0132	c.88A others(2): Show c.88A>G	p.Thr others(5): Show p.Thr30Ala	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	2/19	452/3875	88/2856	30/951	chr9	TogoVar
ADAMTSL2_chr9_133529704_133580519	133538387	C C	T T	missense_variant missense_variant	MODERATE	HG01975.hp1 HG01975.hp1	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0003 a0005c0034t0003	a0005c0034t0003g0037 a0005c0034t0003g0037	1	152	0.0066	c.272 others(3): Show c.272C>T	p.Thr others(5): Show p.Thr91Met	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	4/19	636/3875	272/2856	91/951	chr9	TogoVar
ADAMTSL2_chr9_133529704_133580519	133554507	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(39): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG01071.hp1 HG01433.hp1 HG01515.hp2 HG01884.hp1 HG01975.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02965.hp1 HG03225.hp1 HG03834.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18945.hp2 NA18951.hp2 NA18964.hp1 NA18973.hp2 NA18983.hp2 NA19043.hp2 NA20905.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0002c0004 a0002c0009 others(4): Show a0002c0002 a0002c0004 a0002c0009 a0002c0018 a0002c0029 a0005c0034 a0006c0017	a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0009t0001 a0002c0018t0003 a0002c0029t0003 a0005c0034t0003 a0006c0017t0002	a0002c0002t0002g0002 a0002c0002t0002g0027 a0002c0002t0002g0028 others(39): Show a0002c0002t0002g0002 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0046 a0002c0002t0003g0019 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0030 a0002c0002t0003g0036 a0002c0002t0003g0053 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0071 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0099 a0002c0002t0003g0101 a0002c0002t0003g0102 a0002c0002t0003g0121 a0002c0002t0003g0134 a0002c0002t0003g0151 a0002c0002t0003g0152 a0002c0002t0010g0039 a0002c0004t0001g0051 a0002c0004t0001g0106 a0002c0004t0002g0058 a0002c0004t0003g0038 a0002c0004t0003g0044 a0002c0004t0003g0047 a0002c0004t0003g0063 a0002c0004t0003g0067 a0002c0004t0003g0068 a0002c0004t0003g0082 a0002c0004t0003g0093 a0002c0004t0003g0094 a0002c0009t0001g0016 a0002c0009t0001g0124 a0002c0009t0001g0149 a0002c0018t0003g0110 a0002c0029t0003g0011 a0005c0034t0003g0037 a0006c0017t0002g0031	42	152	0.2763	c.109 others(4): Show c.1090G>A	p.Val others(6): Show p.Val364Ile	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	10/19	1454/3875	1090/2856	364/951	chr9	TogoVar

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