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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ADAMTS10_chr19_8575240_8615715	8584904	C C	T T	missense_variant missense_variant	MODERATE	HG03139.hp1 HG03139.hp2 HG03139.hp1 HG03139.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0002 a0007c0012t0002	a0007c0012t0002g0198 a0007c0012t0002g0297 a0007c0012t0002g0198 a0007c0012t0002g0297	2	384	0.0052	c.319 others(4): Show c.3193G>A	p.Gly others(7): Show p.Gly1065Ser	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	25/26	3479/4251	3193/3312	1065/1103	chr19	TogoVar
ADAMTS10_chr19_8575240_8615715	8585476	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02145.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0005 a0012c0021t0005	a0012c0021t0005g0120 a0012c0021t0005g0120	1	384	0.0026	c.284 others(4): Show c.2845G>A	p.Ala others(6): Show p.Ala949Thr	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	23/26	3131/4251	2845/3312	949/1103	chr19	TogoVar
ADAMTS10_chr19_8575240_8615715	8586198	C C	A A	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00621.hp2 HG02257.hp1 others(10): Show HG00408.hp2 HG00621.hp2 HG02257.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp2 NA18950.hp2 NA19030.hp1 NA19043.hp1	a0004 a0006 a0013 a0004 a0006 a0013	a0004c0006 a0006c0008 a0013c0024 a0004c0006 a0006c0008 a0013c0024	a0004c0006t0004 a0004c0006t0009 a0006c0008t0006 others(1): Show a0004c0006t0004 a0004c0006t0009 a0006c0008t0006 a0013c0024t0006	a0004c0006t0004g0122 a0004c0006t0004g0162 a0004c0006t0004g0171 others(10): Show a0004c0006t0004g0122 a0004c0006t0004g0162 a0004c0006t0004g0171 a0004c0006t0004g0172 a0004c0006t0004g0194 a0004c0006t0004g0334 a0004c0006t0009g0027 a0006c0008t0006g0103 a0006c0008t0006g0121 a0006c0008t0006g0167 a0006c0008t0006g0253 a0006c0008t0006g0274 a0013c0024t0006g0257	13	384	0.0339	c.258 others(4): Show c.2584G>T	p.Ala others(6): Show p.Ala862Ser	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	22/26	2870/4251	2584/3312	862/1103	chr19	TogoVar
ADAMTS10_chr19_8575240_8615715	8586451	A A	C C	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03209.hp1 HG03225.hp2 others(4): Show HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0009 a0004c0006t0004 a0004c0006t0009	a0004c0006t0004g0122 a0004c0006t0004g0162 a0004c0006t0004g0171 others(4): Show a0004c0006t0004g0122 a0004c0006t0004g0162 a0004c0006t0004g0171 a0004c0006t0004g0172 a0004c0006t0004g0194 a0004c0006t0004g0334 a0004c0006t0009g0027	7	384	0.0182	c.242 others(4): Show c.2423T>G	p.Leu others(6): Show p.Leu808Arg	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	21/26	2709/4251	2423/3312	808/1103	chr19	TogoVar
ADAMTS10_chr19_8575240_8615715	8586700	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0002 a0009c0016t0002	a0009c0016t0002g0126 a0009c0016t0002g0126	1	384	0.0026	c.226 others(4): Show c.2261C>T	p.Ser others(6): Show p.Ser754Phe	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	20/26	2547/4251	2261/3312	754/1103	chr19	TogoVar
ADAMTS10_chr19_8575240_8615715	8605046	C C	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00280.hp1 HG00733.hp1 others(22): Show HG00099.hp1 HG00280.hp1 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01981.hp2 HG03669.hp2 HG04184.hp2 NA18947.hp1 NA18988.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 others(4): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0003t0007 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004	a0002c0003t0001g0260 a0002c0003t0002g0140 a0002c0003t0002g0207 others(22): Show a0002c0003t0001g0260 a0002c0003t0002g0140 a0002c0003t0002g0207 a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0311 a0002c0003t0002g0312 a0002c0003t0002g0345 a0002c0003t0002g0346 a0002c0003t0005g0026 a0002c0003t0005g0214 a0002c0003t0007g0210 a0002c0003t0007g0211 a0002c0003t0007g0215 a0002c0003t0007g0262 a0002c0005t0001g0153 a0002c0005t0001g0181 a0002c0005t0001g0208 a0002c0005t0001g0209 a0002c0005t0001g0258 a0002c0005t0001g0266 a0002c0005t0001g0267 a0002c0005t0002g0023 a0002c0005t0004g0024 a0002c0005t0004g0025	25	384	0.0651	c.401 others(3): Show c.401G>C	p.Ser others(6): Show p.Ser134Thr	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	4/26	687/4251	401/3312	134/1103	chr19	TogoVar
ADAMTS10_chr19_8575240_8615715	8605091	C C	T T	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01106.hp1 HG01257.hp2 others(7): Show HG01069.hp1 HG01106.hp1 HG01257.hp2 HG01258.hp1 HG01928.hp2 HG01943.hp1 HG01993.hp2 NA18967.hp2 NA18970.hp2 NA19083.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0003 a0003c0004t0013 a0003c0004t0001 a0003c0004t0003 a0003c0004t0013	a0003c0004t0001g0039 a0003c0004t0003g0040 a0003c0004t0003g0041 others(7): Show a0003c0004t0001g0039 a0003c0004t0003g0040 a0003c0004t0003g0041 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0109 a0003c0004t0003g0110 a0003c0004t0003g0354 a0003c0004t0013g0163	10	384	0.0260	c.356 others(3): Show c.356G>A	p.Arg others(6): Show p.Arg119Gln	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	4/26	642/4251	356/3312	119/1103	chr19	TogoVar
ADAMTS10_chr19_8575240_8615715	8605097	G G	A A	missense_variant missense_variant	MODERATE	HG03195.hp2 HG03195.hp2	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0006 a0013c0024t0006	a0013c0024t0006g0257 a0013c0024t0006g0257	1	384	0.0026	c.350 others(3): Show c.350C>T	p.Ala others(6): Show p.Ala117Val	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	4/26	636/4251	350/3312	117/1103	chr19	TogoVar
ADAMTS10_chr19_8575240_8615715	8605169	C C	T T	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0004 a0008c0017t0004	a0008c0017t0004g0369 a0008c0017t0004g0369	1	384	0.0026	c.278 others(3): Show c.278G>A	p.Arg others(5): Show p.Arg93His	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	4/26	564/4251	278/3312	93/1103	chr19	TogoVar
ADAMTS10_chr19_8575240_8615715	8605262	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG01167.hp1 HG01358.hp1 others(3): Show HG00099.hp2 HG01167.hp1 HG01358.hp1 HG01975.hp1 HG01978.hp1 NA20805.hp1	a0005 a0005	a0005c0007 a0005c0015 a0005c0007 a0005c0015	a0005c0007t0001 a0005c0007t0022 a0005c0015t0001 a0005c0007t0001 a0005c0007t0022 a0005c0015t0001	a0005c0007t0001g0038 a0005c0007t0001g0256 a0005c0007t0001g0280 others(3): Show a0005c0007t0001g0038 a0005c0007t0001g0256 a0005c0007t0001g0280 a0005c0007t0001g0293 a0005c0007t0022g0372 a0005c0015t0001g0223	6	384	0.0156	c.185 others(3): Show c.185G>A	p.Arg others(5): Show p.Arg62Gln	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	4/26	471/4251	185/3312	62/1103	chr19	TogoVar
ADAMTS10_chr19_8575240_8615715	8605296	C C	T T	missense_variant missense_variant	MODERATE	NA19091.hp1 NA19091.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0088 a0014c0014t0001g0088	1	384	0.0026	c.151 others(3): Show c.151G>A	p.Gly others(5): Show p.Gly51Arg	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	4/26	437/4251	151/3312	51/1103	chr19	TogoVar
ADAMTS12_chr5_33518535_33896990	33527202	A A	G G	missense_variant missense_variant	MODERATE	HG01243.hp2 HG01884.hp1 HG01891.hp2 others(20): Show HG01243.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA19030.hp2 NA20129.hp2	a0003 a0004 a0013 others(4): Show a0003 a0004 a0013 a0018 a0021 a0022 a0025	a0003c0005 a0003c0023 a0003c0043 others(10): Show a0003c0005 a0003c0023 a0003c0043 a0004c0007 a0004c0017 a0004c0019 a0004c0034 a0004c0049 a0013c0061 a0018c0057 a0021c0054 a0022c0051 a0025c0020	a0003c0005t0006 a0003c0005t0007 a0003c0005t0010 others(13): Show a0003c0005t0006 a0003c0005t0007 a0003c0005t0010 a0003c0023t0006 a0003c0043t0010 a0004c0007t0007 a0004c0007t0014 a0004c0017t0013 a0004c0019t0007 a0004c0034t0025 a0004c0049t0014 a0013c0061t0013 a0018c0057t0022 a0021c0054t0007 a0022c0051t0006 a0025c0020t0010	a0003c0005t0006g0086 a0003c0005t0006g0134 a0003c0005t0006g0165 others(20): Show a0003c0005t0006g0086 a0003c0005t0006g0134 a0003c0005t0006g0165 a0003c0005t0006g0184 a0003c0005t0006g0192 a0003c0005t0007g0040 a0003c0005t0007g0051 a0003c0005t0010g0193 a0003c0023t0006g0035 a0003c0043t0010g0042 a0004c0007t0007g0052 a0004c0007t0007g0132 a0004c0007t0007g0144 a0004c0007t0014g0113 a0004c0017t0013g0209 a0004c0019t0007g0205 a0004c0034t0025g0194 a0004c0049t0014g0190 a0013c0061t0013g0223 a0018c0057t0022g0175 a0021c0054t0007g0174 a0022c0051t0006g0172 a0025c0020t0010g0206	23	224	0.1027	c.477 others(4): Show c.4771T>C	p.Ser others(7): Show p.Ser1591Pro	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	24/24	4905/8572	4771/4785	1591/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33527333	C C	G G	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0031 a0031	a0031c0044 a0031c0044	a0031c0044t0024 a0031c0044t0024	a0031c0044t0024g0087 a0031c0044t0024g0087	1	224	0.0045	c.464 others(4): Show c.4640G>C	p.Ser others(7): Show p.Ser1547Thr	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	24/24	4774/8572	4640/4785	1547/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33534955	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(144): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19080.hp1 NA19080.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(17): Show a0001 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0018 a0020 a0021 a0023 a0028 a0029 a0031	a0001c0001 a0001c0003 a0001c0008 others(40): Show a0001c0001 a0001c0003 a0001c0008 a0001c0011 a0001c0016 a0001c0018 a0001c0024 a0001c0025 a0001c0027 a0001c0028 a0001c0031 a0001c0035 a0001c0036 a0001c0039 a0001c0050 a0004c0007 a0004c0017 a0004c0019 a0004c0034 a0004c0049 a0005c0006 a0005c0013 a0006c0012 a0006c0046 a0008c0052 a0008c0055 a0009c0038 a0009c0045 a0010c0014 a0011c0015 a0012c0021 a0012c0022 a0013c0061 a0014c0060 a0016c0062 a0017c0058 a0018c0057 a0020c0053 a0021c0054 a0023c0047 a0028c0030 a0029c0041 a0031c0044	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(58): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0019 a0001c0008t0005 a0001c0011t0001 a0001c0011t0003 a0001c0016t0001 a0001c0018t0008 a0001c0024t0001 a0001c0025t0012 a0001c0027t0004 a0001c0028t0001 a0001c0031t0001 a0001c0035t0001 a0001c0036t0004 a0001c0039t0001 a0001c0050t0005 a0004c0007t0007 a0004c0007t0014 a0004c0017t0013 a0004c0019t0007 a0004c0034t0025 a0004c0049t0014 a0005c0006t0001 a0005c0006t0011 a0005c0006t0016 a0005c0013t0011 a0005c0013t0016 a0006c0012t0001 a0006c0046t0001 a0008c0052t0027 a0008c0055t0001 a0009c0038t0003 a0009c0045t0008 a0010c0014t0001 a0011c0015t0003 a0012c0021t0012 a0012c0022t0003 a0013c0061t0013 a0014c0060t0005 a0016c0062t0009 a0017c0058t0001 a0018c0057t0022 a0020c0053t0017 a0021c0054t0007 a0023c0047t0001 a0028c0030t0012 a0029c0041t0001 a0031c0044t0024	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 others(144): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0210 a0001c0001t0003g0022 a0001c0001t0003g0047 a0001c0001t0003g0063 a0001c0001t0003g0089 a0001c0001t0003g0104 a0001c0001t0003g0108 a0001c0001t0003g0136 a0001c0001t0003g0149 a0001c0001t0003g0159 a0001c0001t0003g0180 a0001c0001t0003g0198 a0001c0001t0004g0010 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0066 a0001c0001t0004g0080 a0001c0001t0004g0133 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0005g0015 a0001c0001t0005g0092 a0001c0001t0005g0181 a0001c0001t0008g0102 a0001c0001t0008g0131 a0001c0001t0009g0161 a0001c0001t0009g0199 a0001c0001t0009g0201 a0001c0001t0015g0044 a0001c0001t0015g0046 a0001c0001t0020g0033 a0001c0001t0021g0178 a0001c0001t0023g0103 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0057 a0001c0003t0001g0097 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0143 a0001c0003t0001g0170 a0001c0003t0001g0185 a0001c0003t0003g0088 a0001c0003t0004g0020 a0001c0003t0004g0084 a0001c0003t0005g0074 a0001c0003t0005g0077 a0001c0003t0019g0111 a0001c0008t0005g0028 a0001c0008t0005g0031 a0001c0008t0005g0079 a0001c0008t0005g0156 a0001c0011t0001g0163 a0001c0011t0001g0164 a0001c0011t0003g0107 a0001c0016t0001g0208 a0001c0018t0008g0207 a0001c0024t0001g0050 a0001c0025t0012g0217 a0001c0027t0004g0026 a0001c0028t0001g0189 a0001c0031t0001g0115 a0001c0035t0001g0036 a0001c0036t0004g0012 a0001c0039t0001g0032 a0001c0050t0005g0202 a0004c0007t0007g0052 a0004c0007t0007g0132 a0004c0007t0007g0144 a0004c0007t0014g0113 a0004c0017t0013g0209 a0004c0019t0007g0205 a0004c0034t0025g0194 a0004c0049t0014g0190 a0005c0006t0001g0147 a0005c0006t0001g0191 a0005c0006t0011g0018 a0005c0006t0011g0182 a0005c0006t0016g0158 a0005c0013t0011g0139 a0005c0013t0016g0153 a0006c0012t0001g0119 a0006c0012t0001g0120 a0006c0012t0001g0124 a0006c0046t0001g0125 a0008c0052t0027g0224 a0008c0055t0001g0176 a0009c0038t0003g0105 a0009c0045t0008g0085 a0010c0014t0001g0110 a0010c0014t0001g0112 a0011c0015t0003g0041 a0011c0015t0003g0203 a0012c0021t0012g0213 a0012c0022t0003g0106 a0013c0061t0013g0223 a0014c0060t0005g0220 a0016c0062t0009g0221 a0017c0058t0001g0083 a0018c0057t0022g0175 a0020c0053t0017g0001 a0021c0054t0007g0174 a0023c0047t0001g0126 a0028c0030t0012g0200 a0029c0041t0001g0214 a0031c0044t0024g0087	147	224	0.6563	c.448 others(4): Show c.4484C>T	p.Thr others(7): Show p.Thr1495Ile	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	23/24	4618/8572	4484/4785	1495/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33549245	C C	G G	missense_variant missense_variant	MODERATE	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0110 a0010c0014t0001g0112 a0010c0014t0001g0110 a0010c0014t0001g0112	2	224	0.0089	c.426 others(4): Show c.4264G>C	p.Glu others(7): Show p.Glu1422Gln	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	21/24	4398/8572	4264/4785	1422/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33549269	G G	C C	missense_variant missense_variant	MODERATE	NA18940.hp1 NA18940.hp1	a0030 a0030	a0030c0032 a0030c0032	a0030c0032t0002 a0030c0032t0002	a0030c0032t0002g0168 a0030c0032t0002g0168	1	224	0.0045	c.424 others(4): Show c.4240C>G	p.Pro others(7): Show p.Pro1414Ala	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	21/24	4374/8572	4240/4785	1414/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33549269	G G	T T	missense_variant missense_variant	MODERATE	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0110 a0010c0014t0001g0112 a0010c0014t0001g0110 a0010c0014t0001g0112	2	224	0.0089	c.424 others(4): Show c.4240C>A	p.Pro others(7): Show p.Pro1414Thr	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	21/24	4374/8572	4240/4785	1414/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33549330	G G	C C	missense_variant missense_variant	MODERATE	HG02258.hp1 NA18522.hp1 NA18522.hp2 HG02258.hp1 NA18522.hp1 NA18522.hp2	a0011 a0020 a0011 a0020	a0011c0015 a0020c0053 a0011c0015 a0020c0053	a0011c0015t0003 a0020c0053t0017 a0011c0015t0003 a0020c0053t0017	a0011c0015t0003g0041 a0011c0015t0003g0203 a0020c0053t0017g0001 a0011c0015t0003g0041 a0011c0015t0003g0203 a0020c0053t0017g0001	3	224	0.0134	c.417 others(4): Show c.4179C>G	p.Asp others(7): Show p.Asp1393Glu	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	21/24	4313/8572	4179/4785	1393/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33576144	A A	C C	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0032 a0032	a0032c0042 a0032c0042	a0032c0042t0003 a0032c0042t0003	a0032c0042t0003g0142 a0032c0042t0003g0142	1	224	0.0045	c.388 others(4): Show c.3882T>G	p.Ile others(7): Show p.Ile1294Met	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	19/24	4016/8572	3882/4785	1294/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33576305	T T	C C	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02280.hp2	a0024 a0024	a0024c0048 a0024c0048	a0024c0048t0008 a0024c0048t0008	a0024c0048t0008g0118 a0024c0048t0008g0118	1	224	0.0045	c.372 others(4): Show c.3721A>G	p.Thr others(7): Show p.Thr1241Ala	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	19/24	3855/8572	3721/4785	1241/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33576424	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG03486.hp1 HG01109.hp2 HG03486.hp1	a0009 a0009	a0009c0038 a0009c0045 a0009c0038 a0009c0045	a0009c0038t0003 a0009c0045t0008 a0009c0038t0003 a0009c0045t0008	a0009c0038t0003g0105 a0009c0045t0008g0085 a0009c0038t0003g0105 a0009c0045t0008g0085	2	224	0.0089	c.360 others(4): Show c.3602C>T	p.Thr others(7): Show p.Thr1201Ile	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	19/24	3736/8572	3602/4785	1201/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33576497	A A	G G	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01192.hp1 HG04204.hp2 others(5): Show HG01109.hp1 HG01192.hp1 HG04204.hp2 HG06807.hp1 NA18964.hp2 NA18970.hp2 NA18995.hp1 NA21309.hp2	a0005 a0023 a0005 a0023	a0005c0006 a0005c0013 a0023c0047 a0005c0006 a0005c0013 a0023c0047	a0005c0006t0001 a0005c0006t0011 a0005c0006t0016 others(3): Show a0005c0006t0001 a0005c0006t0011 a0005c0006t0016 a0005c0013t0011 a0005c0013t0016 a0023c0047t0001	a0005c0006t0001g0147 a0005c0006t0001g0191 a0005c0006t0011g0018 others(5): Show a0005c0006t0001g0147 a0005c0006t0001g0191 a0005c0006t0011g0018 a0005c0006t0011g0182 a0005c0006t0016g0158 a0005c0013t0011g0139 a0005c0013t0016g0153 a0023c0047t0001g0126	8	224	0.0357	c.352 others(4): Show c.3529T>C	p.Trp others(7): Show p.Trp1177Arg	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	19/24	3663/8572	3529/4785	1177/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33576991	T T	C C	missense_variant missense_variant	MODERATE	NA18522.hp1 NA18522.hp2 NA18522.hp1 NA18522.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0003 a0011c0015t0003	a0011c0015t0003g0041 a0011c0015t0003g0203 a0011c0015t0003g0041 a0011c0015t0003g0203	2	224	0.0089	c.303 others(4): Show c.3035A>G	p.Asn others(7): Show p.Asn1012Ser	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	19/24	3169/8572	3035/4785	1012/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33577003	C C	T T	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0029 a0029	a0029c0041 a0029c0041	a0029c0041t0001 a0029c0041t0001	a0029c0041t0001g0214 a0029c0041t0001g0214	1	224	0.0045	c.302 others(4): Show c.3023G>A	p.Gly others(7): Show p.Gly1008Asp	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	19/24	3157/8572	3023/4785	1008/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33577027	C C	T T	missense_variant missense_variant	MODERATE	HG02976.hp2 HG03225.hp2 HG02976.hp2 HG03225.hp2	a0026 a0027 a0026 a0027	a0026c0033 a0027c0029 a0026c0033 a0027c0029	a0026c0033t0001 a0027c0029t0001 a0026c0033t0001 a0027c0029t0001	a0026c0033t0001g0195 a0027c0029t0001g0039 a0026c0033t0001g0195 a0027c0029t0001g0039	2	224	0.0089	c.299 others(4): Show c.2999G>A	p.Arg others(7): Show p.Arg1000Gln	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	19/24	3133/8572	2999/4785	1000/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33596021	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02630.hp2 HG02976.hp2 HG02258.hp1 HG02630.hp2 HG02976.hp2	a0020 a0027 a0028 a0020 a0027 a0028	a0020c0053 a0027c0029 a0028c0030 a0020c0053 a0027c0029 a0028c0030	a0020c0053t0017 a0027c0029t0001 a0028c0030t0012 a0020c0053t0017 a0027c0029t0001 a0028c0030t0012	a0020c0053t0017g0001 a0027c0029t0001g0039 a0028c0030t0012g0200 a0020c0053t0017g0001 a0027c0029t0001g0039 a0028c0030t0012g0200	3	224	0.0134	c.256 others(4): Show c.2567G>A	p.Arg others(6): Show p.Arg856His	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	17/24	2701/8572	2567/4785	856/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33596055	G G	A A	missense_variant missense_variant	MODERATE	HG03225.hp2 HG03225.hp2	a0026 a0026	a0026c0033 a0026c0033	a0026c0033t0001 a0026c0033t0001	a0026c0033t0001g0195 a0026c0033t0001g0195	1	224	0.0045	c.253 others(4): Show c.2533C>T	p.Arg others(6): Show p.Arg845Cys	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	17/24	2667/8572	2533/4785	845/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33624260	C C	T T	missense_variant missense_variant	MODERATE	HG02622.hp2 HG03139.hp1 HG03516.hp1 HG02622.hp2 HG03139.hp1 HG03516.hp1	a0018 a0019 a0025 a0018 a0019 a0025	a0018c0057 a0019c0056 a0025c0020 a0018c0057 a0019c0056 a0025c0020	a0018c0057t0022 a0019c0056t0001 a0025c0020t0010 a0018c0057t0022 a0019c0056t0001 a0025c0020t0010	a0018c0057t0022g0175 a0019c0056t0001g0173 a0025c0020t0010g0206 a0018c0057t0022g0175 a0019c0056t0001g0173 a0025c0020t0010g0206	3	224	0.0134	c.211 others(4): Show c.2114G>A	p.Arg others(6): Show p.Arg705Lys	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	14/24	2248/8572	2114/4785	705/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33683975	G G	A A	missense_variant missense_variant	MODERATE	HG02818.hp1 HG02818.hp1	a0016 a0016	a0016c0062 a0016c0062	a0016c0062t0009 a0016c0062t0009	a0016c0062t0009g0221 a0016c0062t0009g0221	1	224	0.0045	c.715 others(3): Show c.715C>T	p.Arg others(6): Show p.Arg239Trp	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	4/24	849/8572	715/4785	239/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33751521	C C	G G	missense_variant missense_variant	MODERATE	HG02976.hp1 HG03516.hp2 HG02976.hp1 HG03516.hp2	a0012 a0012	a0012c0021 a0012c0022 a0012c0021 a0012c0022	a0012c0021t0012 a0012c0022t0003 a0012c0021t0012 a0012c0022t0003	a0012c0021t0012g0213 a0012c0022t0003g0106 a0012c0021t0012g0213 a0012c0022t0003g0106	2	224	0.0089	c.517 others(3): Show c.517G>C	p.Asp others(6): Show p.Asp173His	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	3/24	651/8572	517/4785	173/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33881147	G G	A A	missense_variant missense_variant	MODERATE	HG00621.hp2 HG01981.hp2 HG02280.hp2 others(7): Show HG00621.hp2 HG01981.hp2 HG02280.hp2 HG02683.hp1 HG03017.hp1 HG04204.hp1 NA18979.hp2 NA18983.hp2 NA19009.hp2 NA21309.hp2	a0006 a0007 a0023 others(1): Show a0006 a0007 a0023 a0024	a0006c0012 a0006c0046 a0007c0010 others(2): Show a0006c0012 a0006c0046 a0007c0010 a0023c0047 a0024c0048	a0006c0012t0001 a0006c0046t0001 a0007c0010t0002 others(3): Show a0006c0012t0001 a0006c0046t0001 a0007c0010t0002 a0007c0010t0003 a0023c0047t0001 a0024c0048t0008	a0006c0012t0001g0119 a0006c0012t0001g0120 a0006c0012t0001g0124 others(7): Show a0006c0012t0001g0119 a0006c0012t0001g0120 a0006c0012t0001g0124 a0006c0046t0001g0125 a0007c0010t0002g0121 a0007c0010t0002g0122 a0007c0010t0002g0123 a0007c0010t0003g0127 a0023c0047t0001g0126 a0024c0048t0008g0118	10	224	0.0446	c.461 others(3): Show c.461C>T	p.Thr others(6): Show p.Thr154Met	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/24	595/8572	461/4785	154/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33881280	G G	C C	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02258.hp1 HG02258.hp2 others(4): Show HG01884.hp2 HG02258.hp1 HG02258.hp2 HG02717.hp1 HG03139.hp1 HG03453.hp2 HG03516.hp1	a0008 a0018 a0019 others(3): Show a0008 a0018 a0019 a0020 a0021 a0022	a0008c0052 a0008c0055 a0018c0057 others(4): Show a0008c0052 a0008c0055 a0018c0057 a0019c0056 a0020c0053 a0021c0054 a0022c0051	a0008c0052t0027 a0008c0055t0001 a0018c0057t0022 others(4): Show a0008c0052t0027 a0008c0055t0001 a0018c0057t0022 a0019c0056t0001 a0020c0053t0017 a0021c0054t0007 a0022c0051t0006	a0008c0052t0027g0224 a0008c0055t0001g0176 a0018c0057t0022g0175 others(4): Show a0008c0052t0027g0224 a0008c0055t0001g0176 a0018c0057t0022g0175 a0019c0056t0001g0173 a0020c0053t0017g0001 a0021c0054t0007g0174 a0022c0051t0006g0172	7	224	0.0313	c.328 others(3): Show c.328C>G	p.Gln others(6): Show p.Gln110Glu	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/24	462/8572	328/4785	110/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33881288	G G	A A	missense_variant missense_variant	MODERATE	HG02071.hp1 HG02071.hp1	a0017 a0017	a0017c0058 a0017c0058	a0017c0058t0001 a0017c0058t0001	a0017c0058t0001g0083 a0017c0058t0001g0083	1	224	0.0045	c.320 others(3): Show c.320C>T	p.Thr others(6): Show p.Thr107Met	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/24	454/8572	320/4785	107/1594	chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33891832	G G	A A	missense_variant missense_variant	MODERATE	HG02818.hp1 HG03486.hp2 HG03704.hp1 others(1): Show HG02818.hp1 HG03486.hp2 HG03704.hp1 NA19043.hp2	a0013 a0014 a0015 others(1): Show a0013 a0014 a0015 a0016	a0013c0061 a0014c0060 a0015c0059 others(1): Show a0013c0061 a0014c0060 a0015c0059 a0016c0062	a0013c0061t0013 a0014c0060t0005 a0015c0059t0003 others(1): Show a0013c0061t0013 a0014c0060t0005 a0015c0059t0003 a0016c0062t0009	a0013c0061t0013g0223 a0014c0060t0005g0220 a0015c0059t0003g0222 others(1): Show a0013c0061t0013g0223 a0014c0060t0005g0220 a0015c0059t0003g0222 a0016c0062t0009g0221	4	224	0.0179	c.25C others(2): Show c.25C>T	p.Leu others(4): Show p.Leu9Phe	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	1/24	159/8572	25/4785	9/1594	chr5	TogoVar
ADAMTS13_chr9_133417367_133464386	133422462	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00733.hp2 HG01069.hp2 others(11): Show HG00280.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG02486.hp2 HG02630.hp1 HG03139.hp2 HG03209.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG04228.hp2 NA20905.hp2	a0009 a0012 a0018 others(2): Show a0009 a0012 a0018 a0019 a0030	a0009c0013 a0012c0018 a0012c0060 others(3): Show a0009c0013 a0012c0018 a0012c0060 a0018c0024 a0019c0025 a0030c0059	a0009c0013t0001 a0012c0018t0001 a0012c0060t0001 others(3): Show a0009c0013t0001 a0012c0018t0001 a0012c0060t0001 a0018c0024t0001 a0019c0025t0001 a0030c0059t0001	a0009c0013t0001g0011 a0009c0013t0001g0071 a0009c0013t0001g0073 others(9): Show a0009c0013t0001g0011 a0009c0013t0001g0071 a0009c0013t0001g0073 a0009c0013t0001g0074 a0012c0018t0001g0072 a0012c0018t0001g0276 a0012c0018t0001g0277 a0012c0060t0001g0198 a0018c0024t0001g0023 a0019c0025t0001g0125 a0019c0025t0001g0126 a0030c0059t0001g0075	14	364	0.0385	c.19C others(2): Show c.19C>T	p.Arg others(4): Show p.Arg7Trp	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	1/29	96/4399	19/4116	7/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133426023	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 NA19030.hp1 HG02630.hp2 NA19030.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0230 a0015c0020t0001g0231 a0015c0020t0001g0230 a0015c0020t0001g0231	2	364	0.0055	c.500 others(3): Show c.500C>T	p.Thr others(6): Show p.Thr167Met	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	5/29	577/4399	500/4116	167/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133426053	A A	G G	missense_variant missense_variant	MODERATE	NA18612.hp1 NA18612.hp1	a0020 a0020	a0020c0058 a0020c0058	a0020c0058t0001 a0020c0058t0001	a0020c0058t0001g0160 a0020c0058t0001g0160	1	364	0.0028	c.530 others(3): Show c.530A>G	p.Tyr others(6): Show p.Tyr177Cys	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	5/29	607/4399	530/4116	177/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133432616	C C	G G	missense_variant missense_variant	MODERATE	HG00423.hp2 NA18969.hp1 NA18983.hp1 others(2): Show HG00423.hp2 NA18969.hp1 NA18983.hp1 NA19054.hp1 NA19081.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0032 a0008c0012t0001g0033 a0008c0012t0001g0064 others(2): Show a0008c0012t0001g0032 a0008c0012t0001g0033 a0008c0012t0001g0064 a0008c0012t0001g0065 a0008c0012t0001g0066	5	364	0.0137	c.101 others(4): Show c.1016C>G	p.Thr others(6): Show p.Thr339Arg	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	9/29	1093/4399	1016/4116	339/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133432622	C C	T T	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0021 a0021	a0021c0054 a0021c0054	a0021c0054t0001 a0021c0054t0001	a0021c0054t0001g0140 a0021c0054t0001g0140	1	364	0.0028	c.102 others(4): Show c.1022C>T	p.Pro others(6): Show p.Pro341Leu	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	9/29	1099/4399	1022/4116	341/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133433441	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0022 a0022	a0022c0041 a0022c0041	a0022c0041t0003 a0022c0041t0003	a0022c0041t0003g0030 a0022c0041t0003g0030	1	364	0.0028	c.115 others(4): Show c.1156C>T	p.Arg others(6): Show p.Arg386Cys	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	10/29	1233/4399	1156/4116	386/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133436862	C C	G G	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00609.hp1 HG00639.hp2 others(85): Show HG00423.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp2 HG02818.hp2 HG02965.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18959.hp1 NA18964.hp1 NA18969.hp1 NA18971.hp1 NA18983.hp1 NA18988.hp1 NA18992.hp1 NA18995.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp2 NA19054.hp1 NA19057.hp1 NA19063.hp2 NA19068.hp1 NA19081.hp1 NA20300.hp1	a0002 a0008 a0013 others(3): Show a0002 a0008 a0013 a0018 a0019 a0023	a0002c0002 a0002c0006 a0002c0037 others(10): Show a0002c0002 a0002c0006 a0002c0037 a0002c0038 a0002c0039 a0002c0040 a0002c0051 a0002c0052 a0008c0012 a0013c0016 a0018c0024 a0019c0025 a0023c0053	a0002c0002t0001 a0002c0006t0001 a0002c0037t0001 others(10): Show a0002c0002t0001 a0002c0006t0001 a0002c0037t0001 a0002c0038t0001 a0002c0039t0001 a0002c0040t0001 a0002c0051t0001 a0002c0052t0001 a0008c0012t0001 a0013c0016t0001 a0018c0024t0001 a0019c0025t0001 a0023c0053t0001	a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 others(74): Show a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0119 a0002c0002t0001g0124 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0245 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0006t0001g0035 a0002c0006t0001g0039 a0002c0006t0001g0082 a0002c0006t0001g0097 a0002c0006t0001g0100 a0002c0006t0001g0113 a0002c0006t0001g0114 a0002c0006t0001g0118 a0002c0006t0001g0279 a0002c0037t0001g0087 a0002c0038t0001g0106 a0002c0039t0001g0149 a0002c0040t0001g0302 a0002c0051t0001g0164 a0002c0052t0001g0210 a0008c0012t0001g0032 a0008c0012t0001g0033 a0008c0012t0001g0064 a0008c0012t0001g0065 a0008c0012t0001g0066 a0013c0016t0001g0034 a0013c0016t0001g0112 a0013c0016t0001g0117 a0018c0024t0001g0023 a0019c0025t0001g0125 a0019c0025t0001g0126 a0023c0053t0001g0300	88	364	0.2418	c.134 others(4): Show c.1342C>G	p.Gln others(6): Show p.Gln448Glu	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	12/29	1419/4399	1342/4116	448/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133436888	G G	T T	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02257.hp1 HG02647.hp2 others(5): Show HG02145.hp2 HG02257.hp1 HG02647.hp2 HG02818.hp1 HG02965.hp1 HG03139.hp1 HG03486.hp2 NA18906.hp2	a0010 a0014 a0024 a0010 a0014 a0024	a0010c0015 a0014c0023 a0014c0056 others(1): Show a0010c0015 a0014c0023 a0014c0056 a0024c0055	a0010c0015t0001 a0014c0023t0001 a0014c0056t0001 others(1): Show a0010c0015t0001 a0014c0023t0001 a0014c0056t0001 a0024c0055t0001	a0010c0015t0001g0022 a0010c0015t0001g0067 a0010c0015t0001g0264 others(4): Show a0010c0015t0001g0022 a0010c0015t0001g0067 a0010c0015t0001g0264 a0014c0023t0001g0305 a0014c0023t0001g0311 a0014c0056t0001g0306 a0024c0055t0001g0307	8	364	0.0220	c.136 others(4): Show c.1368G>T	p.Gln others(6): Show p.Gln456His	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	12/29	1445/4399	1368/4116	456/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133436943	C C	T T	missense_variant missense_variant	MODERATE	NA18942.hp1 NA18951.hp1 NA18964.hp2 others(4): Show NA18942.hp1 NA18951.hp1 NA18964.hp2 NA18986.hp2 NA19000.hp1 NA19004.hp1 NA19077.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0031 a0006c0008t0001g0043 a0006c0008t0001g0131 others(4): Show a0006c0008t0001g0031 a0006c0008t0001g0043 a0006c0008t0001g0131 a0006c0008t0001g0135 a0006c0008t0001g0136 a0006c0008t0001g0141 a0006c0008t0001g0145	7	364	0.0192	c.142 others(4): Show c.1423C>T	p.Pro others(6): Show p.Pro475Ser	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	12/29	1500/4399	1423/4116	475/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133437812	A A	C C	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0025 a0025	a0025c0036 a0025c0036	a0025c0036t0001 a0025c0036t0001	a0025c0036t0001g0262 a0025c0036t0001g0262	1	364	0.0028	c.149 others(4): Show c.1499A>C	p.Asp others(6): Show p.Asp500Ala	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	13/29	1576/4399	1499/4116	500/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133440409	C C	G G	missense_variant missense_variant	MODERATE	HG00423.hp2 HG01069.hp2 HG01071.hp1 others(6): Show HG00423.hp2 HG01069.hp2 HG01071.hp1 HG03491.hp1 HG03492.hp2 NA18969.hp1 NA18983.hp1 NA19054.hp1 NA19081.hp1	a0008 a0018 a0019 a0008 a0018 a0019	a0008c0012 a0018c0024 a0019c0025 a0008c0012 a0018c0024 a0019c0025	a0008c0012t0001 a0018c0024t0001 a0019c0025t0001 a0008c0012t0001 a0018c0024t0001 a0019c0025t0001	a0008c0012t0001g0032 a0008c0012t0001g0033 a0008c0012t0001g0064 others(5): Show a0008c0012t0001g0032 a0008c0012t0001g0033 a0008c0012t0001g0064 a0008c0012t0001g0065 a0008c0012t0001g0066 a0018c0024t0001g0023 a0019c0025t0001g0125 a0019c0025t0001g0126	9	364	0.0247	c.185 others(4): Show c.1852C>G	p.Pro others(6): Show p.Pro618Ala	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	16/29	1929/4399	1852/4116	618/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133440431	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02280.hp2 HG02615.hp1 others(7): Show HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp1 HG06807.hp1 NA18906.hp1 NA20129.hp1	a0004 a0004	a0004c0004 a0004c0026 a0004c0004 a0004c0026	a0004c0004t0001 a0004c0026t0001 a0004c0004t0001 a0004c0026t0001	a0004c0004t0001g0010 a0004c0004t0001g0025 a0004c0004t0001g0239 others(4): Show a0004c0004t0001g0010 a0004c0004t0001g0025 a0004c0004t0001g0239 a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0004t0001g0242 a0004c0026t0001g0229	10	364	0.0275	c.187 others(4): Show c.1874G>A	p.Arg others(6): Show p.Arg625His	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	16/29	1951/4399	1874/4116	625/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133442676	C C	A A	missense_variant missense_variant	MODERATE	NA18992.hp2 NA19066.hp2 NA19068.hp2 others(1): Show NA18992.hp2 NA19066.hp2 NA19068.hp2 NA19085.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0003 a0011c0014t0001g0176 a0011c0014t0001g0003 a0011c0014t0001g0176	4	364	0.0110	c.216 others(4): Show c.2167C>A	p.Gln others(6): Show p.Gln723Lys	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	18/29	2244/4399	2167/4116	723/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133442727	G G	A A	missense_variant missense_variant	MODERATE	HG02647.hp2 HG02818.hp1 HG03486.hp2 others(1): Show HG02647.hp2 HG02818.hp1 HG03486.hp2 NA18906.hp2	a0014 a0024 a0014 a0024	a0014c0023 a0014c0056 a0024c0055 a0014c0023 a0014c0056 a0024c0055	a0014c0023t0001 a0014c0056t0001 a0024c0055t0001 a0014c0023t0001 a0014c0056t0001 a0024c0055t0001	a0014c0023t0001g0305 a0014c0023t0001g0311 a0014c0056t0001g0306 others(1): Show a0014c0023t0001g0305 a0014c0023t0001g0311 a0014c0056t0001g0306 a0024c0055t0001g0307	4	364	0.0110	c.221 others(4): Show c.2218G>A	p.Glu others(6): Show p.Glu740Lys	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	18/29	2295/4399	2218/4116	740/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133444987	G G	A A	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0026 a0026	a0026c0045 a0026c0045	a0026c0045t0001 a0026c0045t0001	a0026c0045t0001g0186 a0026c0045t0001g0186	1	364	0.0028	c.254 others(4): Show c.2545G>A	p.Val others(6): Show p.Val849Ile	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	20/29	2622/4399	2545/4116	849/1371	chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133445787	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00323.hp1 HG00735.hp1 others(19): Show HG00280.hp1 HG00323.hp1 HG00735.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01433.hp1 HG01884.hp2 HG02109.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG04184.hp1	a0003 a0019 a0022 others(1): Show a0003 a0019 a0022 a0030	a0003c0003 a0003c0019 a0003c0030 others(7): Show a0003c0003 a0003c0019 a0003c0030 a0003c0031 a0003c0032 a0003c0033 a0003c0035 a0019c0025 a0022c0041 a0030c0059	a0003c0003t0001 a0003c0019t0001 a0003c0030t0004 others(7): Show a0003c0003t0001 a0003c0019t0001 a0003c0030t0004 a0003c0031t0001 a0003c0032t0001 a0003c0033t0002 a0003c0035t0001 a0019c0025t0001 a0022c0041t0003 a0030c0059t0001	a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0233 others(19): Show a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0297 a0003c0003t0001g0298 a0003c0019t0001g0130 a0003c0019t0001g0237 a0003c0030t0004g0268 a0003c0031t0001g0278 a0003c0032t0001g0270 a0003c0033t0002g0269 a0003c0035t0001g0238 a0019c0025t0001g0125 a0019c0025t0001g0126 a0022c0041t0003g0030 a0030c0059t0001g0075	22	364	0.0604	c.269 others(4): Show c.2699C>T	p.Ala others(6): Show p.Ala900Val	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding	21/29	2776/4399	2699/4116	900/1371	chr9	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)