Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
ADAM8_chr10_133257423_133281868	133275527	C C	T T	missense_variant missense_variant	MODERATE	NA20300.hp1 NA20300.hp1	a0030 a0030	a0030c0020 a0030c0020	a0030c0020t0001 a0030c0020t0001	a0030c0020t0001g0048 a0030c0020t0001g0048	1	384	0.0026	c.107 others(3): Show c.107G>A	p.Arg others(5): Show p.Arg36His	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding	2/23	158/3259	107/2475	36/824	chr10	TogoVar
ADAM8_chr10_133257423_133281868	133275531	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(337): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.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 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0004 others(23): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0028 a0029 a0030	a0001c0001 a0001c0002 a0001c0007 others(33): Show a0001c0001 a0001c0002 a0001c0007 a0001c0013 a0001c0025 a0001c0028 a0003c0004 a0003c0012 a0004c0005 a0004c0026 a0005c0009 a0005c0033 a0006c0010 a0007c0008 a0008c0017 a0008c0022 a0008c0023 a0009c0011 a0010c0014 a0011c0016 a0013c0015 a0014c0018 a0015c0029 a0016c0037 a0017c0041 a0018c0040 a0019c0036 a0020c0031 a0021c0027 a0022c0030 a0023c0021 a0024c0024 a0025c0034 a0028c0035 a0029c0032 a0030c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(38): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0007t0002 a0001c0013t0001 a0001c0025t0001 a0001c0028t0001 a0003c0004t0003 a0003c0012t0003 a0004c0005t0002 a0004c0026t0002 a0005c0009t0001 a0005c0033t0001 a0006c0010t0001 a0007c0008t0003 a0008c0017t0001 a0008c0022t0002 a0008c0023t0002 a0009c0011t0001 a0010c0014t0001 a0011c0016t0001 a0013c0015t0006 a0013c0015t0007 a0014c0018t0001 a0015c0029t0001 a0016c0037t0001 a0017c0041t0001 a0018c0040t0001 a0019c0036t0001 a0020c0031t0001 a0021c0027t0002 a0022c0030t0001 a0023c0021t0002 a0024c0024t0003 a0025c0034t0001 a0028c0035t0001 a0029c0032t0001 a0030c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(144): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0149 a0001c0001t0004g0025 a0001c0001t0005g0073 a0001c0002t0001g0005 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0146 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0118 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0142 a0001c0002t0003g0032 a0001c0002t0003g0041 a0001c0002t0003g0117 a0001c0002t0003g0141 a0001c0007t0002g0033 a0001c0007t0002g0034 a0001c0007t0002g0124 a0001c0007t0002g0143 a0001c0013t0001g0023 a0001c0013t0001g0095 a0001c0025t0001g0131 a0001c0028t0001g0053 a0003c0004t0003g0019 a0003c0004t0003g0038 a0003c0004t0003g0039 a0003c0004t0003g0045 a0003c0004t0003g0134 a0003c0004t0003g0135 a0003c0004t0003g0136 a0003c0004t0003g0137 a0003c0004t0003g0138 a0003c0004t0003g0140 a0003c0004t0003g0162 a0003c0004t0003g0163 a0003c0012t0003g0021 a0004c0005t0002g0011 a0004c0005t0002g0035 a0004c0005t0002g0115 a0004c0005t0002g0116 a0004c0005t0002g0125 a0004c0005t0002g0126 a0004c0005t0002g0127 a0004c0026t0002g0128 a0005c0009t0001g0014 a0005c0009t0001g0081 a0005c0009t0001g0085 a0005c0033t0001g0084 a0006c0010t0001g0010 a0006c0010t0001g0100 a0007c0008t0003g0012 a0007c0008t0003g0121 a0008c0017t0001g0040 a0008c0022t0002g0147 a0008c0023t0002g0129 a0009c0011t0001g0026 a0009c0011t0001g0086 a0009c0011t0001g0096 a0010c0014t0001g0027 a0010c0014t0001g0080 a0011c0016t0001g0054 a0011c0016t0001g0109 a0013c0015t0006g0164 a0013c0015t0007g0165 a0014c0018t0001g0102 a0014c0018t0001g0113 a0015c0029t0001g0056 a0016c0037t0001g0103 a0017c0041t0001g0145 a0018c0040t0001g0144 a0019c0036t0001g0098 a0020c0031t0001g0059 a0021c0027t0002g0133 a0022c0030t0001g0057 a0023c0021t0002g0148 a0024c0024t0003g0119 a0025c0034t0001g0110 a0028c0035t0001g0139 a0029c0032t0001g0079 a0030c0020t0001g0048	340	384	0.8854	c.103 others(3): Show c.103T>C	p.Trp others(5): Show p.Trp35Arg	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding	2/23	154/3259	103/2475	35/824	chr10	TogoVar
ADAM8_chr10_133257423_133281868	133275573	G G	A A	missense_variant missense_variant	MODERATE	HG01516.hp2 HG01516.hp2	a0017 a0017	a0017c0041 a0017c0041	a0017c0041t0001 a0017c0041t0001	a0017c0041t0001g0145 a0017c0041t0001g0145	1	384	0.0026	c.61C others(2): Show c.61C>T	p.Arg others(5): Show p.Arg21Trp	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding	2/23	112/3259	61/2475	21/824	chr10	TogoVar
ADAM9_chr8_38991973_39110261	38997149	C C	T T	missense_variant missense_variant	MODERATE	HG01123.hp2 HG01123.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0292 a0004c0005t0001g0292	1	330	0.0030	c.86C others(2): Show c.86C>T	p.Ala others(5): Show p.Ala29Val	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	1/22	177/4112	86/2460	29/819	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39021671	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02258.hp2 HG02451.hp1 others(11): Show HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG06807.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0002 a0002c0010t0002 a0002c0002t0002 a0002c0010t0002	a0002c0002t0002g0130 a0002c0002t0002g0187 a0002c0002t0002g0188 others(11): Show a0002c0002t0002g0130 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0199 a0002c0010t0002g0198	14	330	0.0424	c.701 others(3): Show c.701C>T	p.Ala others(6): Show p.Ala234Val	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	8/22	792/4112	701/2460	234/819	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39026784	G G	T T	missense_variant missense_variant	MODERATE	NA19066.hp1 NA19066.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0163 a0006c0009t0001g0163	1	330	0.0030	c.110 others(4): Show c.1104G>T	p.Lys others(6): Show p.Lys368Asn	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	11/22	1195/4112	1104/2460	368/819	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39054572	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18963.hp2 NA19064.hp1 NA18963.hp2 NA19064.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0301 a0003c0004t0001g0302 a0003c0004t0001g0301 a0003c0004t0001g0302	2	330	0.0061	c.139 others(4): Show c.1394G>A	p.Arg others(6): Show p.Arg465Gln	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	13/22	1485/4112	1394/2460	465/819	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39090082	T T	G G	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0120 a0005c0008t0001g0120	1	330	0.0030	c.210 others(4): Show c.2104T>G	p.Phe others(6): Show p.Phe702Val	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	19/22	2195/4112	2104/2460	702/819	chr8	TogoVar
ADAMDEC1_chr8_24379285_24411013	24392292	C C	T T	missense_variant missense_variant	MODERATE	HG02615.hp1 HG03579.hp1 HG02615.hp1 HG03579.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0052 a0005c0006t0004g0053 a0005c0006t0004g0052 a0005c0006t0004g0053	2	402	0.0050	c.119 others(3): Show c.119C>T	p.Thr others(5): Show p.Thr40Met	ADAMDEC1	ENSG00000134028.14	transcript	ENST00000256412.8	protein_coding	2/14	339/2348	119/1413	40/470	chr8	TogoVar
ADAMDEC1_chr8_24379285_24411013	24392304	T T	G G	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0009 a0009c0007t0009	a0009c0007t0009g0105 a0009c0007t0009g0105	1	402	0.0025	c.131 others(3): Show c.131T>G	p.Ile others(5): Show p.Ile44Arg	ADAMDEC1	ENSG00000134028.14	transcript	ENST00000256412.8	protein_coding	2/14	351/2348	131/1413	44/470	chr8	TogoVar
ADAMDEC1_chr8_24379285_24411013	24393296	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp2 HG02258.hp2 others(6): Show HG01167.hp1 HG01169.hp2 HG02258.hp2 HG02451.hp1 HG02809.hp2 HG02922.hp2 HG02976.hp2 HG03486.hp2 HG06807.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0004c0008 a0003c0004 a0004c0005 a0004c0008	a0003c0004t0005 a0004c0005t0002 a0004c0008t0011 a0003c0004t0005 a0004c0005t0002 a0004c0008t0011	a0003c0004t0005g0014 a0003c0004t0005g0139 a0004c0005t0002g0047 others(1): Show a0003c0004t0005g0014 a0003c0004t0005g0139 a0004c0005t0002g0047 a0004c0008t0011g0137	9	402	0.0224	c.242 others(3): Show c.242T>C	p.Ile others(5): Show p.Ile81Thr	ADAMDEC1	ENSG00000134028.14	transcript	ENST00000256412.8	protein_coding	3/14	462/2348	242/1413	81/470	chr8	TogoVar
ADAMDEC1_chr8_24379285_24411013	24394131	C C	T T	missense_variant missense_variant	MODERATE	HG04184.hp2 HG04184.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0002 a0010c0013t0002	a0010c0013t0002g0003 a0010c0013t0002g0003	1	402	0.0025	c.347 others(3): Show c.347C>T	p.Thr others(6): Show p.Thr116Met	ADAMDEC1	ENSG00000134028.14	transcript	ENST00000256412.8	protein_coding	4/14	567/2348	347/1413	116/470	chr8	TogoVar
ADAMDEC1_chr8_24379285_24411013	24394146	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01167.hp1 HG01169.hp2 HG02258.hp2 others(7): Show HG01167.hp1 HG01169.hp2 HG02258.hp2 HG02451.hp1 HG02809.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03486.hp2 HG06807.hp2	a0003 a0004 a0009 a0003 a0004 a0009	a0003c0004 a0004c0005 a0004c0008 others(1): Show a0003c0004 a0004c0005 a0004c0008 a0009c0007	a0003c0004t0005 a0004c0005t0002 a0004c0008t0011 others(1): Show a0003c0004t0005 a0004c0005t0002 a0004c0008t0011 a0009c0007t0009	a0003c0004t0005g0014 a0003c0004t0005g0139 a0004c0005t0002g0047 others(2): Show a0003c0004t0005g0014 a0003c0004t0005g0139 a0004c0005t0002g0047 a0004c0008t0011g0137 a0009c0007t0009g0105	10	402	0.0249	c.362 others(3): Show c.362T>C	p.Met others(6): Show p.Met121Thr	ADAMDEC1	ENSG00000134028.14	transcript	ENST00000256412.8	protein_coding	4/14	582/2348	362/1413	121/470	chr8	TogoVar
ADAMDEC1_chr8_24379285_24411013	24398874	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01433.hp2 HG01433.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0003 a0008c0012t0003	a0008c0012t0003g0001 a0008c0012t0003g0001	1	402	0.0025	c.763 others(3): Show c.763A>C	p.Ile others(6): Show p.Ile255Leu	ADAMDEC1	ENSG00000134028.14	transcript	ENST00000256412.8	protein_coding	9/14	983/2348	763/1413	255/470	chr8	TogoVar
ADAMDEC1_chr8_24379285_24411013	24402033	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp2 HG00639.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0100 a0006c0010t0003g0100	1	402	0.0025	c.126 others(4): Show c.1261C>T	p.Pro others(6): Show p.Pro421Ser	ADAMDEC1	ENSG00000134028.14	transcript	ENST00000256412.8	protein_coding	12/14	1481/2348	1261/1413	421/470	chr8	TogoVar
ADAMDEC1_chr8_24379285_24411013	24402087	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02809.hp2 HG02922.hp2 others(3): Show HG02451.hp1 HG02809.hp2 HG02922.hp2 HG02976.hp2 HG03486.hp2 HG06807.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0014 a0003c0004t0005g0139 a0003c0004t0005g0014 a0003c0004t0005g0139	6	402	0.0149	c.131 others(4): Show c.1315C>T	p.Pro others(6): Show p.Pro439Ser	ADAMDEC1	ENSG00000134028.14	transcript	ENST00000256412.8	protein_coding	12/14	1535/2348	1315/1413	439/470	chr8	TogoVar
ADAMDEC1_chr8_24379285_24411013	24404013	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(104): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00438.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp1 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18970.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18989.hp1 NA18993.hp1 NA19001.hp2 NA19003.hp1 NA19012.hp2 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0002c0003 a0010c0013 a0002c0002 a0002c0003 a0010c0013	a0002c0002t0002 a0002c0002t0006 a0002c0002t0012 others(3): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0012 a0002c0003t0002 a0002c0003t0006 a0010c0013t0002	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0013 others(27): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0013 a0002c0002t0002g0020 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0065 a0002c0002t0002g0106 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0123 a0002c0002t0002g0127 a0002c0002t0002g0131 a0002c0002t0006g0021 a0002c0002t0012g0124 a0002c0003t0002g0003 a0002c0003t0002g0029 a0002c0003t0002g0064 a0002c0003t0002g0126 a0002c0003t0002g0129 a0002c0003t0002g0132 a0002c0003t0002g0133 a0002c0003t0006g0057 a0010c0013t0002g0003	107	402	0.2662	c.133 others(4): Show c.1331A>G	p.Asn others(6): Show p.Asn444Ser	ADAMDEC1	ENSG00000134028.14	transcript	ENST00000256412.8	protein_coding	13/14	1551/2348	1331/1413	444/470	chr8	TogoVar
ADAMDEC1_chr8_24379285_24411013	24404034	C C	T T	missense_variant missense_variant	MODERATE	HG01168.hp2 HG01168.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0008 a0007c0009t0001g0008	1	402	0.0025	c.135 others(4): Show c.1352C>T	p.Thr others(6): Show p.Thr451Met	ADAMDEC1	ENSG00000134028.14	transcript	ENST00000256412.8	protein_coding	13/14	1572/2348	1352/1413	451/470	chr8	TogoVar
ADAMTS10_chr19_8575240_8615715	8580943	T T	C C	missense_variant missense_variant	MODERATE	NA19062.hp2 NA19062.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0145 a0012c0020t0001g0145	1	382	0.0026	c.326 others(4): Show c.3262A>G	p.Ser others(7): Show p.Ser1088Gly	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	26/26	3548/4251	3262/3312	1088/1103	chr19	TogoVar
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	a0007c0012t0002g0197 a0007c0012t0002g0294 a0007c0012t0002g0197 a0007c0012t0002g0294	2	382	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	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0005 a0008c0021t0005	a0008c0021t0005g0119 a0008c0021t0005g0119	1	382	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 a0011 a0004 a0006 a0011	a0004c0006 a0006c0008 a0011c0024 a0004c0006 a0006c0008 a0011c0024	a0004c0006t0004 a0004c0006t0009 a0006c0008t0006 others(1): Show a0004c0006t0004 a0004c0006t0009 a0006c0008t0006 a0011c0024t0006	a0004c0006t0004g0121 a0004c0006t0004g0161 a0004c0006t0004g0170 others(10): Show a0004c0006t0004g0121 a0004c0006t0004g0161 a0004c0006t0004g0170 a0004c0006t0004g0171 a0004c0006t0004g0193 a0004c0006t0004g0330 a0004c0006t0009g0030 a0006c0008t0006g0104 a0006c0008t0006g0120 a0006c0008t0006g0166 a0006c0008t0006g0252 a0006c0008t0006g0271 a0011c0024t0006g0254	13	382	0.0340	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	a0004c0006t0004g0121 a0004c0006t0004g0161 a0004c0006t0004g0170 others(4): Show a0004c0006t0004g0121 a0004c0006t0004g0161 a0004c0006t0004g0170 a0004c0006t0004g0171 a0004c0006t0004g0193 a0004c0006t0004g0330 a0004c0006t0009g0030	7	382	0.0183	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	a0009c0016t0002g0125 a0009c0016t0002g0125	1	382	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	a0002c0003t0001g0257 a0002c0003t0002g0009 a0002c0003t0002g0139 others(21): Show a0002c0003t0001g0257 a0002c0003t0002g0009 a0002c0003t0002g0139 a0002c0003t0002g0209 a0002c0003t0002g0308 a0002c0003t0002g0309 a0002c0003t0002g0342 a0002c0003t0002g0343 a0002c0003t0005g0029 a0002c0003t0005g0214 a0002c0003t0007g0212 a0002c0003t0007g0213 a0002c0003t0007g0215 a0002c0003t0007g0259 a0002c0005t0001g0152 a0002c0005t0001g0181 a0002c0005t0001g0210 a0002c0005t0001g0211 a0002c0005t0001g0255 a0002c0005t0001g0263 a0002c0005t0001g0264 a0002c0005t0002g0026 a0002c0005t0004g0027 a0002c0005t0004g0028	25	382	0.0654	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	a0003c0004t0001g0047 a0003c0004t0003g0048 a0003c0004t0003g0049 others(7): Show a0003c0004t0001g0047 a0003c0004t0003g0048 a0003c0004t0003g0049 a0003c0004t0003g0107 a0003c0004t0003g0108 a0003c0004t0003g0109 a0003c0004t0003g0110 a0003c0004t0003g0111 a0003c0004t0003g0351 a0003c0004t0013g0163	10	382	0.0262	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	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0006 a0011c0024t0006	a0011c0024t0006g0254 a0011c0024t0006g0254	1	382	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	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0004 a0010c0017t0004	a0010c0017t0004g0366 a0010c0017t0004g0366	1	382	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 a0005c0007t0019 a0005c0015t0001 a0005c0007t0001 a0005c0007t0019 a0005c0015t0001	a0005c0007t0001g0046 a0005c0007t0001g0251 a0005c0007t0001g0278 others(3): Show a0005c0007t0001g0046 a0005c0007t0001g0251 a0005c0007t0001g0278 a0005c0007t0001g0290 a0005c0007t0019g0369 a0005c0015t0001g0242	6	382	0.0157	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	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0101 a0013c0014t0001g0101	1	382	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 a0019 others(4): Show a0003 a0004 a0019 a0021 a0024 a0026 a0027	a0003c0005 a0003c0023 a0003c0043 others(10): Show a0003c0005 a0003c0023 a0003c0043 a0004c0007 a0004c0017 a0004c0019 a0004c0034 a0004c0049 a0019c0020 a0021c0051 a0024c0057 a0026c0054 a0027c0061	a0003c0005t0006 a0003c0005t0007 a0003c0005t0010 others(13): Show a0003c0005t0006 a0003c0005t0007 a0003c0005t0010 a0003c0023t0006 a0003c0043t0010 a0004c0007t0007 a0004c0007t0014 a0004c0017t0013 a0004c0019t0007 a0004c0034t0025 a0004c0049t0014 a0019c0020t0010 a0021c0051t0006 a0024c0057t0022 a0026c0054t0007 a0027c0061t0013	a0003c0005t0006g0086 a0003c0005t0006g0134 a0003c0005t0006g0165 others(20): Show a0003c0005t0006g0086 a0003c0005t0006g0134 a0003c0005t0006g0165 a0003c0005t0006g0184 a0003c0005t0006g0192 a0003c0005t0007g0040 a0003c0005t0007g0051 a0003c0005t0010g0193 a0003c0023t0006g0035 a0003c0043t0010g0042 a0004c0007t0007g0052 a0004c0007t0007g0132 a0004c0007t0007g0144 a0004c0007t0014g0113 a0004c0017t0013g0209 a0004c0019t0007g0205 a0004c0034t0025g0194 a0004c0049t0014g0190 a0019c0020t0010g0206 a0021c0051t0006g0172 a0024c0057t0022g0175 a0026c0054t0007g0174 a0027c0061t0013g0223	23	222	0.1036	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	a0016 a0016	a0016c0044 a0016c0044	a0016c0044t0024 a0016c0044t0024	a0016c0044t0024g0087 a0016c0044t0024g0087	1	222	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 a0020 a0022 a0024 a0026 a0027 a0031 a0032	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 a0008c0038 a0008c0045 a0009c0014 a0010c0052 a0010c0055 a0011c0021 a0011c0022 a0012c0015 a0013c0058 a0014c0053 a0016c0044 a0017c0041 a0020c0030 a0022c0062 a0024c0057 a0026c0054 a0027c0061 a0031c0060 a0032c0047	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 a0008c0038t0003 a0008c0045t0008 a0009c0014t0001 a0010c0052t0027 a0010c0055t0001 a0011c0021t0012 a0011c0022t0003 a0012c0015t0003 a0013c0058t0001 a0014c0053t0017 a0016c0044t0024 a0017c0041t0001 a0020c0030t0012 a0022c0062t0009 a0024c0057t0022 a0026c0054t0007 a0027c0061t0013 a0031c0060t0005 a0032c0047t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(144): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0003g0022 a0001c0001t0003g0047 a0001c0001t0003g0063 a0001c0001t0003g0089 a0001c0001t0003g0104 a0001c0001t0003g0108 a0001c0001t0003g0136 a0001c0001t0003g0149 a0001c0001t0003g0159 a0001c0001t0003g0182 a0001c0001t0003g0198 a0001c0001t0004g0010 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0066 a0001c0001t0004g0080 a0001c0001t0004g0133 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0005g0012 a0001c0001t0005g0092 a0001c0001t0005g0179 a0001c0001t0008g0102 a0001c0001t0008g0131 a0001c0001t0009g0161 a0001c0001t0009g0199 a0001c0001t0009g0201 a0001c0001t0015g0045 a0001c0001t0015g0046 a0001c0001t0020g0033 a0001c0001t0021g0178 a0001c0001t0023g0103 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0057 a0001c0003t0001g0097 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0143 a0001c0003t0001g0170 a0001c0003t0001g0185 a0001c0003t0003g0088 a0001c0003t0004g0020 a0001c0003t0004g0084 a0001c0003t0005g0076 a0001c0003t0005g0078 a0001c0003t0019g0111 a0001c0008t0005g0027 a0001c0008t0005g0031 a0001c0008t0005g0069 a0001c0008t0005g0156 a0001c0011t0001g0163 a0001c0011t0001g0164 a0001c0011t0003g0107 a0001c0016t0001g0208 a0001c0018t0008g0207 a0001c0024t0001g0050 a0001c0025t0012g0217 a0001c0027t0004g0026 a0001c0028t0001g0189 a0001c0031t0001g0116 a0001c0035t0001g0036 a0001c0036t0004g0014 a0001c0039t0001g0032 a0001c0050t0005g0202 a0004c0007t0007g0052 a0004c0007t0007g0132 a0004c0007t0007g0144 a0004c0007t0014g0113 a0004c0017t0013g0209 a0004c0019t0007g0205 a0004c0034t0025g0194 a0004c0049t0014g0190 a0005c0006t0001g0146 a0005c0006t0001g0191 a0005c0006t0011g0015 a0005c0006t0011g0181 a0005c0006t0016g0158 a0005c0013t0011g0139 a0005c0013t0016g0154 a0006c0012t0001g0119 a0006c0012t0001g0120 a0006c0012t0001g0123 a0006c0046t0001g0124 a0008c0038t0003g0105 a0008c0045t0008g0085 a0009c0014t0001g0110 a0009c0014t0001g0112 a0010c0052t0027g0224 a0010c0055t0001g0176 a0011c0021t0012g0213 a0011c0022t0003g0106 a0012c0015t0003g0041 a0012c0015t0003g0203 a0013c0058t0001g0083 a0014c0053t0017g0001 a0016c0044t0024g0087 a0017c0041t0001g0214 a0020c0030t0012g0200 a0022c0062t0009g0221 a0024c0057t0022g0175 a0026c0054t0007g0174 a0027c0061t0013g0223 a0031c0060t0005g0220 a0032c0047t0001g0126	147	222	0.6622	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	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0110 a0009c0014t0001g0112 a0009c0014t0001g0110 a0009c0014t0001g0112	2	222	0.0090	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	220	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	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0110 a0009c0014t0001g0112 a0009c0014t0001g0110 a0009c0014t0001g0112	2	221	0.0090	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	a0012 a0014 a0012 a0014	a0012c0015 a0014c0053 a0012c0015 a0014c0053	a0012c0015t0003 a0014c0053t0017 a0012c0015t0003 a0014c0053t0017	a0012c0015t0003g0041 a0012c0015t0003g0203 a0014c0053t0017g0001 a0012c0015t0003g0041 a0012c0015t0003g0203 a0014c0053t0017g0001	3	222	0.0135	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	a0018 a0018	a0018c0042 a0018c0042	a0018c0042t0003 a0018c0042t0003	a0018c0042t0003g0142 a0018c0042t0003g0142	1	222	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	a0015 a0015	a0015c0048 a0015c0048	a0015c0048t0008 a0015c0048t0008	a0015c0048t0008g0118 a0015c0048t0008g0118	1	222	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	a0008 a0008	a0008c0038 a0008c0045 a0008c0038 a0008c0045	a0008c0038t0003 a0008c0045t0008 a0008c0038t0003 a0008c0045t0008	a0008c0038t0003g0105 a0008c0045t0008g0085 a0008c0038t0003g0105 a0008c0045t0008g0085	2	222	0.0090	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 a0032 a0005 a0032	a0005c0006 a0005c0013 a0032c0047 a0005c0006 a0005c0013 a0032c0047	a0005c0006t0001 a0005c0006t0011 a0005c0006t0016 others(3): Show a0005c0006t0001 a0005c0006t0011 a0005c0006t0016 a0005c0013t0011 a0005c0013t0016 a0032c0047t0001	a0005c0006t0001g0146 a0005c0006t0001g0191 a0005c0006t0011g0015 others(5): Show a0005c0006t0001g0146 a0005c0006t0001g0191 a0005c0006t0011g0015 a0005c0006t0011g0181 a0005c0006t0016g0158 a0005c0013t0011g0139 a0005c0013t0016g0154 a0032c0047t0001g0126	8	222	0.0360	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	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0003 a0012c0015t0003	a0012c0015t0003g0041 a0012c0015t0003g0203 a0012c0015t0003g0041 a0012c0015t0003g0203	2	222	0.0090	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	a0017 a0017	a0017c0041 a0017c0041	a0017c0041t0001 a0017c0041t0001	a0017c0041t0001g0214 a0017c0041t0001g0214	1	222	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	a0023 a0025 a0023 a0025	a0023c0029 a0025c0033 a0023c0029 a0025c0033	a0023c0029t0001 a0025c0033t0001 a0023c0029t0001 a0025c0033t0001	a0023c0029t0001g0039 a0025c0033t0001g0195 a0023c0029t0001g0039 a0025c0033t0001g0195	2	222	0.0090	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	a0014 a0020 a0023 a0014 a0020 a0023	a0014c0053 a0020c0030 a0023c0029 a0014c0053 a0020c0030 a0023c0029	a0014c0053t0017 a0020c0030t0012 a0023c0029t0001 a0014c0053t0017 a0020c0030t0012 a0023c0029t0001	a0014c0053t0017g0001 a0020c0030t0012g0200 a0023c0029t0001g0039 a0014c0053t0017g0001 a0020c0030t0012g0200 a0023c0029t0001g0039	3	222	0.0135	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	a0025 a0025	a0025c0033 a0025c0033	a0025c0033t0001 a0025c0033t0001	a0025c0033t0001g0195 a0025c0033t0001g0195	1	222	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	a0019 a0024 a0028 a0019 a0024 a0028	a0019c0020 a0024c0057 a0028c0056 a0019c0020 a0024c0057 a0028c0056	a0019c0020t0010 a0024c0057t0022 a0028c0056t0001 a0019c0020t0010 a0024c0057t0022 a0028c0056t0001	a0019c0020t0010g0206 a0024c0057t0022g0175 a0028c0056t0001g0173 a0019c0020t0010g0206 a0024c0057t0022g0175 a0028c0056t0001g0173	3	222	0.0135	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	a0022 a0022	a0022c0062 a0022c0062	a0022c0062t0009 a0022c0062t0009	a0022c0062t0009g0221 a0022c0062t0009g0221	1	222	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	a0011 a0011	a0011c0021 a0011c0022 a0011c0021 a0011c0022	a0011c0021t0012 a0011c0022t0003 a0011c0021t0012 a0011c0022t0003	a0011c0021t0012g0213 a0011c0022t0003g0106 a0011c0021t0012g0213 a0011c0022t0003g0106	2	222	0.0090	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 a0015 others(1): Show a0006 a0007 a0015 a0032	a0006c0012 a0006c0046 a0007c0010 others(2): Show a0006c0012 a0006c0046 a0007c0010 a0015c0048 a0032c0047	a0006c0012t0001 a0006c0046t0001 a0007c0010t0002 others(3): Show a0006c0012t0001 a0006c0046t0001 a0007c0010t0002 a0007c0010t0003 a0015c0048t0008 a0032c0047t0001	a0006c0012t0001g0119 a0006c0012t0001g0120 a0006c0012t0001g0123 others(7): Show a0006c0012t0001g0119 a0006c0012t0001g0120 a0006c0012t0001g0123 a0006c0046t0001g0124 a0007c0010t0002g0121 a0007c0010t0002g0122 a0007c0010t0002g0125 a0007c0010t0003g0127 a0015c0048t0008g0118 a0032c0047t0001g0126	10	222	0.0450	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

Search by Variant

Search

Search Results