Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ACER2_chr9_19404009_19457505	19450608	A A	C C	missense_variant missense_variant	MODERATE	HG01243.hp2 HG02109.hp1 HG02280.hp1 others(4): Show HG01243.hp2 HG02109.hp1 HG02280.hp1 HG02615.hp2 HG02723.hp1 HG02922.hp1 HG03041.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0121 a0003c0004t0004g0122 a0003c0004t0004g0124 others(4): Show a0003c0004t0004g0121 a0003c0004t0004g0122 a0003c0004t0004g0124 a0003c0004t0004g0129 a0003c0004t0004g0130 a0003c0004t0004g0274 a0003c0004t0004g0290	7	356	0.0197	c.800 others(3): Show c.800A>C	p.Asn others(6): Show p.Asn267Thr	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	6/6	876/2773	800/828	267/275	chr9	TogoVar
ACER3_chr11_76855918_77031797	76926607	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(210): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(95): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0089 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0003t0011 a0001c0003t0016 a0001c0003t0026 a0001c0003t0027 a0001c0003t0129 a0001c0003t0130 a0001c0003t0131 a0001c0003t0132 a0001c0003t0133 a0001c0003t0134 a0001c0003t0135 a0001c0003t0136 a0001c0003t0137 a0001c0003t0138 a0001c0003t0139 a0001c0003t0140 a0001c0003t0141 a0001c0003t0142 a0001c0003t0143 a0001c0003t0144 a0001c0003t0145 a0001c0003t0146 a0001c0003t0147 a0001c0003t0148 a0001c0003t0149 a0001c0003t0150 a0001c0003t0151 a0001c0003t0152 a0001c0005t0047 a0001c0005t0153 a0001c0007t0064	a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 others(210): Show a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0048 a0001c0001t0003g0052 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0072 a0001c0001t0003g0085 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0004g0031 a0001c0001t0004g0040 a0001c0001t0004g0043 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0058 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0078 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0005g0130 a0001c0001t0005g0150 a0001c0001t0005g0157 a0001c0001t0005g0165 a0001c0001t0005g0167 a0001c0001t0005g0178 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0190 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0007g0171 a0001c0001t0007g0185 a0001c0001t0008g0037 a0001c0001t0008g0055 a0001c0001t0008g0059 a0001c0001t0008g0062 a0001c0001t0008g0083 a0001c0001t0008g0091 a0001c0001t0012g0133 a0001c0001t0012g0134 a0001c0001t0012g0143 a0001c0001t0012g0149 a0001c0001t0012g0177 a0001c0001t0013g0016 a0001c0001t0013g0019 a0001c0001t0013g0136 a0001c0001t0013g0137 a0001c0001t0013g0159 a0001c0001t0014g0199 a0001c0001t0014g0205 a0001c0001t0014g0206 a0001c0001t0014g0209 a0001c0001t0014g0210 a0001c0001t0017g0195 a0001c0001t0017g0196 a0001c0001t0017g0197 a0001c0001t0017g0198 a0001c0001t0018g0038 a0001c0001t0018g0045 a0001c0001t0018g0084 a0001c0001t0018g0094 a0001c0001t0022g0077 a0001c0001t0022g0079 a0001c0001t0022g0081 a0001c0001t0023g0063 a0001c0001t0023g0064 a0001c0001t0023g0095 a0001c0001t0028g0100 a0001c0001t0028g0186 a0001c0001t0029g0202 a0001c0001t0029g0203 a0001c0001t0030g0015 a0001c0001t0030g0027 a0001c0001t0031g0034 a0001c0001t0031g0044 a0001c0001t0032g0065 a0001c0001t0032g0067 a0001c0001t0033g0024 a0001c0001t0033g0056 a0001c0001t0034g0092 a0001c0001t0034g0098 a0001c0001t0035g0069 a0001c0001t0035g0070 a0001c0001t0036g0022 a0001c0001t0036g0039 a0001c0001t0037g0099 a0001c0001t0037g0128 a0001c0001t0038g0046 a0001c0001t0038g0093 a0001c0001t0048g0189 a0001c0001t0049g0163 a0001c0001t0050g0132 a0001c0001t0051g0145 a0001c0001t0052g0138 a0001c0001t0053g0182 a0001c0001t0054g0172 a0001c0001t0055g0141 a0001c0001t0056g0160 a0001c0001t0057g0329 a0001c0001t0058g0188 a0001c0001t0059g0139 a0001c0001t0060g0170 a0001c0001t0061g0187 a0001c0001t0062g0036 a0001c0001t0063g0166 a0001c0001t0065g0080 a0001c0001t0066g0018 a0001c0001t0067g0060 a0001c0001t0068g0025 a0001c0001t0069g0075 a0001c0001t0070g0201 a0001c0001t0071g0158 a0001c0001t0072g0087 a0001c0001t0073g0207 a0001c0001t0074g0129 a0001c0001t0075g0200 a0001c0001t0076g0047 a0001c0001t0077g0049 a0001c0001t0078g0066 a0001c0001t0079g0035 a0001c0001t0080g0086 a0001c0001t0081g0017 a0001c0001t0082g0050 a0001c0001t0083g0051 a0001c0001t0084g0026 a0001c0001t0085g0028 a0001c0001t0086g0208 a0001c0001t0087g0071 a0001c0001t0089g0127 a0001c0001t0092g0076 a0001c0001t0093g0088 a0001c0001t0094g0082 a0001c0003t0011g0101 a0001c0003t0011g0103 a0001c0003t0011g0104 a0001c0003t0011g0106 a0001c0003t0011g0107 a0001c0003t0011g0111 a0001c0003t0016g0102 a0001c0003t0016g0105 a0001c0003t0016g0108 a0001c0003t0016g0109 a0001c0003t0016g0112 a0001c0003t0026g0114 a0001c0003t0026g0115 a0001c0003t0026g0120 a0001c0003t0027g0117 a0001c0003t0027g0118 a0001c0003t0027g0119 a0001c0003t0129g0346 a0001c0003t0130g0342 a0001c0003t0131g0343 a0001c0003t0132g0340 a0001c0003t0133g0345 a0001c0003t0134g0344 a0001c0003t0135g0341 a0001c0003t0136g0121 a0001c0003t0137g0123 a0001c0003t0138g0122 a0001c0003t0139g0116 a0001c0003t0140g0332 a0001c0003t0141g0336 a0001c0003t0142g0334 a0001c0003t0143g0338 a0001c0003t0144g0113 a0001c0003t0145g0124 a0001c0003t0146g0335 a0001c0003t0147g0014 a0001c0003t0148g0337 a0001c0003t0149g0339 a0001c0003t0150g0110 a0001c0003t0151g0333 a0001c0003t0152g0125 a0001c0005t0047g0005 a0001c0005t0153g0204 a0001c0007t0064g0126	213	344	0.6192	c.154 others(3): Show c.154G>A	p.Val others(5): Show p.Val52Ile	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/11	213/7333	154/804	52/267	chr11	TogoVar
ACER3_chr11_76855918_77031797	76985680	C C	T T	missense_variant missense_variant	MODERATE	NA18947.hp1 NA18947.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0009 a0003c0006t0009	a0003c0006t0009g0213 a0003c0006t0009g0213	1	344	0.0029	c.358 others(3): Show c.358C>T	p.His others(6): Show p.His120Tyr	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	5/11	417/7333	358/804	120/267	chr11	TogoVar
ACE_chr17_63472061_63503373	63477099	G G	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG03098.hp2 HG03516.hp2 others(1): Show HG01884.hp2 HG03098.hp2 HG03516.hp2 NA18979.hp2	a0009 a0024 a0009 a0024	a0009c0019 a0024c0066 a0009c0019 a0024c0066	a0009c0019t0001 a0024c0066t0002 a0009c0019t0001 a0024c0066t0002	a0009c0019t0001g0020 a0009c0019t0001g0043 a0024c0066t0002g0002 a0009c0019t0001g0020 a0009c0019t0001g0043 a0024c0066t0002g0002	4	372	0.0108	c.5G> others(1): Show c.5G>T	p.Gly others(4): Show p.Gly2Val	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	1/25	39/4962	5/3921	2/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63477164	C C	A A	missense_variant missense_variant	MODERATE	NA19055.hp1 NA19055.hp1	a0027 a0027	a0027c0032 a0027c0032	a0027c0032t0002 a0027c0032t0002	a0027c0032t0002g0002 a0027c0032t0002g0002	1	372	0.0027	c.70C others(2): Show c.70C>A	p.Pro others(5): Show p.Pro24Thr	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	1/25	104/4962	70/3921	24/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63479068	A A	G G	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00558.hp1 HG02523.hp2 others(2): Show HG00408.hp2 HG00558.hp1 HG02523.hp2 NA18948.hp1 NA19007.hp2	a0006 a0016 a0006 a0016	a0006c0031 a0006c0061 a0006c0062 others(1): Show a0006c0031 a0006c0061 a0006c0062 a0016c0063	a0006c0031t0002 a0006c0061t0001 a0006c0062t0001 others(1): Show a0006c0031t0002 a0006c0061t0001 a0006c0062t0001 a0016c0063t0001	a0006c0031t0002g0035 a0006c0061t0001g0130 a0006c0062t0001g0040 others(1): Show a0006c0031t0002g0035 a0006c0061t0001g0130 a0006c0062t0001g0040 a0016c0063t0001g0040	5	372	0.0134	c.479 others(3): Show c.479A>G	p.Asn others(6): Show p.Asn160Ser	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	3/25	513/4962	479/3921	160/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63479804	G G	A A	missense_variant missense_variant	MODERATE	HG02922.hp1 HG02922.hp1	a0019 a0019	a0019c0034 a0019c0034	a0019c0034t0004 a0019c0034t0004	a0019c0034t0004g0045 a0019c0034t0004g0045	1	372	0.0027	c.547 others(3): Show c.547G>A	p.Ala others(6): Show p.Ala183Thr	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	4/25	581/4962	547/3921	183/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63480412	A A	G G	missense_variant missense_variant	MODERATE	HG01358.hp1 HG01358.hp1	a0017 a0017	a0017c0053 a0017c0053	a0017c0053t0001 a0017c0053t0001	a0017c0053t0001g0001 a0017c0053t0001g0001	1	372	0.0027	c.731 others(3): Show c.731A>G	p.Tyr others(6): Show p.Tyr244Cys	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	5/25	765/4962	731/3921	244/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63480462	G G	T T	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02717.hp1 HG02886.hp1 others(6): Show HG02622.hp2 HG02717.hp1 HG02886.hp1 HG02965.hp2 HG03098.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1	a0004 a0007 a0004 a0007	a0004c0009 a0007c0011 a0004c0009 a0007c0011	a0004c0009t0003 a0007c0011t0007 a0007c0011t0008 others(1): Show a0004c0009t0003 a0007c0011t0007 a0007c0011t0008 a0007c0011t0012	a0004c0009t0003g0012 a0004c0009t0003g0140 a0007c0011t0007g0037 others(2): Show a0004c0009t0003g0012 a0004c0009t0003g0140 a0007c0011t0007g0037 a0007c0011t0008g0153 a0007c0011t0012g0148	9	372	0.0242	c.781 others(3): Show c.781G>T	p.Ala others(6): Show p.Ala261Ser	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	5/25	815/4962	781/3921	261/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63481171	A A	G G	missense_variant missense_variant	MODERATE	NA18979.hp2 NA19010.hp1 NA18979.hp2 NA19010.hp1	a0024 a0025 a0024 a0025	a0024c0066 a0025c0052 a0024c0066 a0025c0052	a0024c0066t0002 a0025c0052t0002 a0024c0066t0002 a0025c0052t0002	a0024c0066t0002g0002 a0025c0052t0002g0002 a0024c0066t0002g0002 a0025c0052t0002g0002	2	372	0.0054	c.928 others(3): Show c.928A>G	p.Ser others(6): Show p.Ser310Gly	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	6/25	962/4962	928/3921	310/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63481590	C C	T T	missense_variant missense_variant	MODERATE	HG01934.hp1 HG02970.hp1 HG01934.hp1 HG02970.hp1	a0011 a0011	a0011c0029 a0011c0029	a0011c0029t0001 a0011c0029t0001	a0011c0029t0001g0149 a0011c0029t0001g0150 a0011c0029t0001g0149 a0011c0029t0001g0150	2	372	0.0054	c.970 others(3): Show c.970C>T	p.Arg others(6): Show p.Arg324Trp	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	7/25	1004/4962	970/3921	324/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63481677	G G	A A	missense_variant missense_variant	MODERATE	HG02155.hp2 NA18947.hp2 HG02155.hp2 NA18947.hp2	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0010 a0013c0021t0010	a0013c0021t0010g0001 a0013c0021t0010g0001	2	372	0.0054	c.105 others(4): Show c.1057G>A	p.Asp others(6): Show p.Asp353Asn	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	7/25	1091/4962	1057/3921	353/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63481680	G G	A A	missense_variant missense_variant	MODERATE	HG01123.hp2 HG02293.hp1 HG01123.hp2 HG02293.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0002 a0010c0022t0002	a0010c0022t0002g0033 a0010c0022t0002g0033	2	372	0.0054	c.106 others(4): Show c.1060G>A	p.Gly others(6): Show p.Gly354Arg	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	7/25	1094/4962	1060/3921	354/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63482466	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02027.hp1 NA18978.hp2 HG02027.hp1 NA18978.hp2	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0002 a0012c0027t0002	a0012c0027t0002g0002 a0012c0027t0002g0002	2	372	0.0054	c.111 others(4): Show c.1119G>T	p.Arg others(6): Show p.Arg373Ser	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	8/25	1153/4962	1119/3921	373/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63482489	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp1 HG00558.hp1	a0016 a0016	a0016c0063 a0016c0063	a0016c0063t0001 a0016c0063t0001	a0016c0063t0001g0040 a0016c0063t0001g0040	1	372	0.0027	c.114 others(4): Show c.1142C>T	p.Thr others(6): Show p.Thr381Met	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	8/25	1176/4962	1142/3921	381/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63482672	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02572.hp2 HG02630.hp1 HG01884.hp1 HG02572.hp2 HG02630.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0009 a0008c0014t0001 a0008c0014t0009	a0008c0014t0001g0064 a0008c0014t0009g0025 a0008c0014t0001g0064 a0008c0014t0009g0025	3	372	0.0081	c.132 others(4): Show c.1325G>A	p.Arg others(6): Show p.Arg442His	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	8/25	1359/4962	1325/3921	442/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63483130	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00140.hp2	a0015 a0015	a0015c0047 a0015c0047	a0015c0047t0001 a0015c0047t0001	a0015c0047t0001g0118 a0015c0047t0001g0118	1	372	0.0027	c.144 others(4): Show c.1444C>T	p.Arg others(6): Show p.Arg482Cys	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	9/25	1478/4962	1444/3921	482/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63484395	A A	G G	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02965.hp2 HG03098.hp1 others(2): Show HG02717.hp1 HG02965.hp2 HG03098.hp1 HG03453.hp1 HG03516.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0012 a0004c0009t0003g0140 a0004c0009t0003g0012 a0004c0009t0003g0140	5	372	0.0134	c.177 others(4): Show c.1775A>G	p.Asp others(6): Show p.Asp592Gly	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	12/25	1809/4962	1775/3921	592/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63485248	A A	T T	missense_variant missense_variant	MODERATE	NA18961.hp1 NA18961.hp1	a0023 a0023	a0023c0046 a0023c0046	a0023c0046t0001 a0023c0046t0001	a0023c0046t0001g0119 a0023c0046t0001g0119	1	372	0.0027	c.193 others(4): Show c.1934A>T	p.Asp others(6): Show p.Asp645Val	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	13/25	1968/4962	1934/3921	645/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63486684	G G	A A	missense_variant missense_variant	MODERATE	NA18953.hp1 NA18953.hp1	a0022 a0022	a0022c0049 a0022c0049	a0022c0049t0001 a0022c0049t0001	a0022c0049t0001g0096 a0022c0049t0001g0096	1	372	0.0027	c.218 others(4): Show c.2186G>A	p.Arg others(6): Show p.Arg729Gln	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	14/25	2220/4962	2186/3921	729/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63488974	T T	C C	missense_variant missense_variant	MODERATE	NA18940.hp1 NA18961.hp2 NA18962.hp2 others(2): Show NA18940.hp1 NA18961.hp2 NA18962.hp2 NA19004.hp2 NA19060.hp2	a0005 a0005	a0005c0015 a0005c0026 a0005c0015 a0005c0026	a0005c0015t0002 a0005c0026t0002 a0005c0015t0002 a0005c0026t0002	a0005c0015t0002g0011 a0005c0026t0002g0011 a0005c0026t0002g0087 a0005c0015t0002g0011 a0005c0026t0002g0011 a0005c0026t0002g0087	5	372	0.0134	c.248 others(4): Show c.2483T>C	p.Met others(6): Show p.Met828Thr	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	17/25	2517/4962	2483/3921	828/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63491216	C C	T T	missense_variant missense_variant	MODERATE	HG03927.hp1 HG03927.hp1	a0021 a0021	a0021c0058 a0021c0058	a0021c0058t0002 a0021c0058t0002	a0021c0058t0002g0009 a0021c0058t0002g0009	1	372	0.0027	c.274 others(4): Show c.2747C>T	p.Thr others(6): Show p.Thr916Met	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	19/25	2781/4962	2747/3921	916/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63491272	C C	T T	missense_variant missense_variant	MODERATE	NA18953.hp1 NA18953.hp1	a0022 a0022	a0022c0049 a0022c0049	a0022c0049t0001 a0022c0049t0001	a0022c0049t0001g0096 a0022c0049t0001g0096	1	372	0.0027	c.280 others(4): Show c.2803C>T	p.Pro others(6): Show p.Pro935Ser	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	19/25	2837/4962	2803/3921	935/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63494394	C C	A A	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0018 a0018	a0018c0036 a0018c0036	a0018c0036t0008 a0018c0036t0008	a0018c0036t0008g0060 a0018c0036t0008g0060	1	372	0.0027	c.330 others(4): Show c.3304C>A	p.Pro others(7): Show p.Pro1102Thr	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	22/25	3338/4962	3304/3921	1102/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63496854	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02572.hp2 HG02630.hp1 HG01884.hp1 HG02572.hp2 HG02630.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0009 a0008c0014t0001 a0008c0014t0009	a0008c0014t0001g0064 a0008c0014t0009g0025 a0008c0014t0001g0064 a0008c0014t0009g0025	3	372	0.0081	c.356 others(4): Show c.3560C>T	p.Thr others(7): Show p.Thr1187Met	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	24/25	3594/4962	3560/3921	1187/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63496950	T T	C C	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03654.hp1	a0020 a0020	a0020c0040 a0020c0040	a0020c0040t0002 a0020c0040t0002	a0020c0040t0002g0017 a0020c0040t0002g0017	1	372	0.0027	c.365 others(4): Show c.3656T>C	p.Leu others(7): Show p.Leu1219Pro	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	24/25	3690/4962	3656/3921	1219/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63497281	G G	A A	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0026 a0026	a0026c0042 a0026c0042	a0026c0042t0001 a0026c0042t0001	a0026c0042t0001g0116 a0026c0042t0001g0116	1	372	0.0027	c.383 others(4): Show c.3836G>A	p.Arg others(7): Show p.Arg1279Gln	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	25/25	3870/4962	3836/3921	1279/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63497301	C C	A A	missense_variant missense_variant	MODERATE	HG01099.hp2 HG01346.hp1 HG02451.hp1 others(19): Show HG01099.hp2 HG01346.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03540.hp1 NA18522.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0037 a0002c0059 a0002c0003 a0002c0037 a0002c0059	a0002c0003t0003 a0002c0037t0003 a0002c0059t0003 a0002c0003t0003 a0002c0037t0003 a0002c0059t0003	a0002c0003t0003g0003 a0002c0003t0003g0022 a0002c0003t0003g0044 others(6): Show a0002c0003t0003g0003 a0002c0003t0003g0022 a0002c0003t0003g0044 a0002c0003t0003g0056 a0002c0003t0003g0057 a0002c0003t0003g0059 a0002c0003t0003g0158 a0002c0037t0003g0136 a0002c0059t0003g0156	22	372	0.0591	c.385 others(4): Show c.3856C>A	p.Arg others(7): Show p.Arg1286Ser	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	25/25	3890/4962	3856/3921	1286/1306	chr17	TogoVar
ACE_chr17_63472061_63503373	63497314	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02257.hp1 HG02572.hp2 others(2): Show HG01884.hp1 HG02257.hp1 HG02572.hp2 HG02630.hp1 HG02723.hp1	a0008 a0014 a0008 a0014	a0008c0014 a0014c0023 a0008c0014 a0014c0023	a0008c0014t0001 a0008c0014t0009 a0014c0023t0001 a0008c0014t0001 a0008c0014t0009 a0014c0023t0001	a0008c0014t0001g0064 a0008c0014t0009g0025 a0014c0023t0001g0023 a0008c0014t0001g0064 a0008c0014t0009g0025 a0014c0023t0001g0023	5	372	0.0134	c.386 others(4): Show c.3869G>A	p.Arg others(7): Show p.Arg1290Gln	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	25/25	3903/4962	3869/3921	1290/1306	chr17	TogoVar
ACHE_chr7_100884994_100900888	100893176	G G	T T	missense_variant missense_variant	MODERATE	HG01168.hp1 HG01169.hp1 HG03831.hp1 others(3): Show HG01168.hp1 HG01169.hp1 HG03831.hp1 HG06807.hp1 NA20752.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0045 a0002c0003t0002g0018 a0002c0003t0002g0046 a0002c0003t0001g0045 a0002c0003t0002g0018 a0002c0003t0002g0046	6	412	0.0146	c.105 others(4): Show c.1057C>A	p.His others(6): Show p.His353Asn	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding	2/5	1164/2172	1057/1845	353/614	chr7	TogoVar
ACHE_chr7_100884994_100900888	100893343	T T	A A	missense_variant missense_variant	MODERATE	NA18965.hp1 NA18965.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0070 a0007c0014t0001g0070	1	412	0.0024	c.890 others(3): Show c.890A>T	p.Asp others(6): Show p.Asp297Val	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding	2/5	997/2172	890/1845	297/614	chr7	TogoVar
ACHE_chr7_100884994_100900888	100893830	G G	C C	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01081.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0060 a0004c0015t0001g0060	1	412	0.0024	c.403 others(3): Show c.403C>G	p.Pro others(6): Show p.Pro135Ala	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding	2/5	510/2172	403/1845	135/614	chr7	TogoVar
ACHE_chr7_100884994_100900888	100894066	G G	A A	missense_variant missense_variant	MODERATE	NA19001.hp1 NA19009.hp2 NA19010.hp2 others(1): Show NA19001.hp1 NA19009.hp2 NA19010.hp2 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0022 a0003c0004t0001g0022	4	412	0.0097	c.167 others(3): Show c.167C>T	p.Pro others(5): Show p.Pro56Leu	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding	2/5	274/2172	167/1845	56/614	chr7	TogoVar
ACHE_chr7_100884994_100900888	100894132	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0007 a0005c0007t0007	a0005c0007t0007g0043 a0005c0007t0007g0043	1	412	0.0024	c.101 others(3): Show c.101G>A	p.Arg others(5): Show p.Arg34Gln	ACHE	ENSG00000087085.16	transcript	ENST00000241069.11	protein_coding	2/5	208/2172	101/1845	34/614	chr7	TogoVar
ACIN1_chr14_23053564_23100136	23061349	G G	A A	missense_variant missense_variant	MODERATE	HG02886.hp2 HG03041.hp1 HG02886.hp2 HG03041.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0303 a0008c0017t0001g0304 a0008c0017t0001g0303 a0008c0017t0001g0304	2	348	0.0057	c.337 others(4): Show c.3373C>T	p.Arg others(7): Show p.Arg1125Cys	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	17/19	3397/4460	3373/3852	1125/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23079720	C C	T T	missense_variant missense_variant	MODERATE	NA19091.hp1 NA19091.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0266 a0014c0023t0001g0266	1	348	0.0029	c.161 others(4): Show c.1615G>A	p.Asp others(6): Show p.Asp539Asn	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1639/4460	1615/3852	539/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23079813	G G	A A	missense_variant missense_variant	MODERATE	HG00597.hp1 HG00597.hp1	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0001 a0009c0025t0001	a0009c0025t0001g0290 a0009c0025t0001g0290	1	348	0.0029	c.152 others(4): Show c.1522C>T	p.Pro others(6): Show p.Pro508Ser	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1546/4460	1522/3852	508/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23080076	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00438.hp1 HG00544.hp2 others(35): Show HG00099.hp1 HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01074.hp2 HG01261.hp1 HG01993.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02300.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18947.hp1 NA18951.hp1 NA18965.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19079.hp2 NA19088.hp1 NA19091.hp2	a0003 a0003	a0003c0004 a0003c0021 a0003c0004 a0003c0021	a0003c0004t0001 a0003c0021t0005 a0003c0004t0001 a0003c0021t0005	a0003c0004t0001g0002 a0003c0004t0001g0006 a0003c0004t0001g0010 others(28): Show a0003c0004t0001g0002 a0003c0004t0001g0006 a0003c0004t0001g0010 a0003c0004t0001g0031 a0003c0004t0001g0070 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0075 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0087 a0003c0004t0001g0088 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0021t0005g0076	38	348	0.1092	c.125 others(4): Show c.1259C>T	p.Ser others(6): Show p.Ser420Phe	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1283/4460	1259/3852	420/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23080110	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(175): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18994.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0008	a0002c0002 a0002c0003 a0002c0016 others(10): Show a0002c0002 a0002c0003 a0002c0016 a0002c0028 a0003c0004 a0003c0015 a0003c0021 a0003c0022 a0004c0006 a0004c0008 a0006c0009 a0006c0019 a0008c0017	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(13): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0003t0001 a0002c0016t0001 a0002c0028t0001 a0003c0004t0001 a0003c0015t0001 a0003c0021t0005 a0003c0022t0001 a0004c0006t0001 a0004c0008t0002 a0004c0008t0004 a0006c0009t0001 a0006c0019t0001 a0008c0017t0001	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0030 others(148): Show a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0101 a0002c0002t0001g0105 a0002c0002t0001g0112 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0124 a0002c0002t0001g0130 a0002c0002t0001g0217 a0002c0002t0002g0057 a0002c0002t0006g0058 a0002c0003t0001g0001 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0056 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0104 a0002c0003t0001g0106 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0111 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0123 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0138 a0002c0003t0001g0143 a0002c0016t0001g0027 a0002c0016t0001g0028 a0002c0028t0001g0137 a0003c0004t0001g0002 a0003c0004t0001g0006 a0003c0004t0001g0010 a0003c0004t0001g0031 a0003c0004t0001g0070 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0075 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0087 a0003c0004t0001g0088 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0015t0001g0300 a0003c0015t0001g0301 a0003c0015t0001g0302 a0003c0021t0005g0076 a0003c0022t0001g0098 a0004c0006t0001g0004 a0004c0006t0001g0015 a0004c0006t0001g0016 a0004c0006t0001g0097 a0004c0006t0001g0099 a0004c0006t0001g0100 a0004c0006t0001g0186 a0004c0006t0001g0189 a0004c0006t0001g0190 a0004c0006t0001g0192 a0004c0006t0001g0305 a0004c0008t0002g0179 a0004c0008t0002g0180 a0004c0008t0002g0181 a0004c0008t0002g0182 a0004c0008t0002g0184 a0004c0008t0002g0185 a0004c0008t0002g0187 a0004c0008t0002g0188 a0004c0008t0002g0191 a0004c0008t0004g0183 a0006c0009t0001g0017 a0006c0009t0001g0194 a0006c0009t0001g0195 a0006c0009t0001g0196 a0006c0009t0001g0197 a0006c0009t0001g0199 a0006c0019t0001g0029 a0008c0017t0001g0303 a0008c0017t0001g0304	178	348	0.5115	c.122 others(4): Show c.1225T>C	p.Ser others(6): Show p.Ser409Pro	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1249/4460	1225/3852	409/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23080301	G G	A A	missense_variant missense_variant	MODERATE	HG02132.hp2 HG02132.hp2	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0001 a0011c0026t0001	a0011c0026t0001g0291 a0011c0026t0001g0291	1	348	0.0029	c.103 others(4): Show c.1034C>T	p.Ala others(6): Show p.Ala345Val	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	1058/4460	1034/3852	345/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23080576	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(204): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0005 a0006 a0008 a0012 a0013	a0002c0002 a0002c0003 a0002c0016 others(16): Show a0002c0002 a0002c0003 a0002c0016 a0002c0028 a0003c0004 a0003c0010 a0003c0013 a0003c0015 a0003c0021 a0003c0022 a0004c0006 a0004c0008 a0005c0005 a0005c0014 a0006c0009 a0006c0019 a0008c0017 a0012c0029 a0013c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(22): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0003t0001 a0002c0016t0001 a0002c0028t0001 a0003c0004t0001 a0003c0010t0001 a0003c0010t0003 a0003c0013t0001 a0003c0015t0001 a0003c0021t0005 a0003c0022t0001 a0004c0006t0001 a0004c0008t0002 a0004c0008t0004 a0005c0005t0001 a0005c0005t0002 a0005c0005t0007 a0005c0014t0002 a0006c0009t0001 a0006c0019t0001 a0008c0017t0001 a0012c0029t0001 a0013c0018t0001	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0030 others(175): Show a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0101 a0002c0002t0001g0105 a0002c0002t0001g0112 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0124 a0002c0002t0001g0130 a0002c0002t0001g0217 a0002c0002t0002g0057 a0002c0002t0006g0058 a0002c0003t0001g0001 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0056 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0104 a0002c0003t0001g0106 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0111 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0123 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0138 a0002c0003t0001g0143 a0002c0016t0001g0027 a0002c0016t0001g0028 a0002c0028t0001g0137 a0003c0004t0001g0002 a0003c0004t0001g0006 a0003c0004t0001g0010 a0003c0004t0001g0031 a0003c0004t0001g0070 a0003c0004t0001g0071 a0003c0004t0001g0072 a0003c0004t0001g0073 a0003c0004t0001g0074 a0003c0004t0001g0075 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0087 a0003c0004t0001g0088 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0010t0001g0147 a0003c0010t0001g0148 a0003c0010t0001g0149 a0003c0010t0001g0150 a0003c0010t0003g0144 a0003c0013t0001g0145 a0003c0013t0001g0146 a0003c0013t0001g0151 a0003c0015t0001g0300 a0003c0015t0001g0301 a0003c0015t0001g0302 a0003c0021t0005g0076 a0003c0022t0001g0098 a0004c0006t0001g0004 a0004c0006t0001g0015 a0004c0006t0001g0016 a0004c0006t0001g0097 a0004c0006t0001g0099 a0004c0006t0001g0100 a0004c0006t0001g0186 a0004c0006t0001g0189 a0004c0006t0001g0190 a0004c0006t0001g0192 a0004c0006t0001g0305 a0004c0008t0002g0179 a0004c0008t0002g0180 a0004c0008t0002g0181 a0004c0008t0002g0182 a0004c0008t0002g0184 a0004c0008t0002g0185 a0004c0008t0002g0187 a0004c0008t0002g0188 a0004c0008t0002g0191 a0004c0008t0004g0183 a0005c0005t0001g0193 a0005c0005t0001g0212 a0005c0005t0002g0018 a0005c0005t0002g0019 a0005c0005t0002g0200 a0005c0005t0002g0201 a0005c0005t0002g0203 a0005c0005t0002g0204 a0005c0005t0002g0205 a0005c0005t0002g0206 a0005c0005t0002g0207 a0005c0005t0002g0208 a0005c0005t0002g0209 a0005c0005t0007g0202 a0005c0014t0002g0211 a0005c0014t0002g0213 a0005c0014t0002g0214 a0006c0009t0001g0017 a0006c0009t0001g0194 a0006c0009t0001g0195 a0006c0009t0001g0196 a0006c0009t0001g0197 a0006c0009t0001g0199 a0006c0019t0001g0029 a0008c0017t0001g0303 a0008c0017t0001g0304 a0012c0029t0001g0215 a0013c0018t0001g0026	207	348	0.5948	c.759 others(3): Show c.759A>G	p.Ile others(6): Show p.Ile253Met	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	783/4460	759/3852	253/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23080739	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01884.hp1 HG02257.hp2 others(5): Show HG01109.hp1 HG01884.hp1 HG02257.hp2 HG02622.hp1 HG02965.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2	a0006 a0006	a0006c0009 a0006c0019 a0006c0009 a0006c0019	a0006c0009t0001 a0006c0019t0001 a0006c0009t0001 a0006c0019t0001	a0006c0009t0001g0017 a0006c0009t0001g0194 a0006c0009t0001g0195 others(4): Show a0006c0009t0001g0017 a0006c0009t0001g0194 a0006c0009t0001g0195 a0006c0009t0001g0196 a0006c0009t0001g0197 a0006c0009t0001g0199 a0006c0019t0001g0029	8	348	0.0230	c.596 others(3): Show c.596G>A	p.Arg others(6): Show p.Arg199Lys	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	6/19	620/4460	596/3852	199/1283	chr14	TogoVar
ACIN1_chr14_23053564_23100136	23095087	A A	T T	missense_variant missense_variant	MODERATE	NA18999.hp2 NA18999.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0026 a0013c0018t0001g0026	1	348	0.0029	c.26T others(2): Show c.26T>A	p.Leu others(4): Show p.Leu9Gln	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	1/19	50/4460	26/3852	9/1283	chr14	TogoVar
ACKR1_chr1_159199875_159211500	159205564	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(176): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18946.hp2 NA18950.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp2 NA18985.hp1 NA18990.hp1 NA19002.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp2 NA19070.hp1 NA19076.hp2 NA19085.hp2 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0003 a0005c0005 a0002c0002 a0003c0003 a0005c0005	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0005c0005t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(4): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0002g0001 a0002c0002t0002g0004 a0003c0003t0001g0003 a0005c0005t0001g0003	179	444	0.4032	c.125 others(3): Show c.125G>A	p.Gly others(5): Show p.Gly42Asp	ACKR1	ENSG00000213088.13	transcript	ENST00000368122.4	protein_coding	2/2	210/1146	125/1011	42/336	chr1	TogoVar
ACKR1_chr1_159199875_159211500	159205638	C C	T T	missense_variant missense_variant	MODERATE	HG01255.hp2 HG01256.hp2 HG01258.hp1 others(12): Show HG01255.hp2 HG01256.hp2 HG01258.hp1 HG02074.hp1 HG03831.hp1 NA18747.hp1 NA18952.hp2 NA18967.hp2 NA18979.hp2 NA18980.hp2 NA18986.hp1 NA19002.hp1 NA19060.hp2 NA19077.hp1 NA19091.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	15	444	0.0338	c.199 others(3): Show c.199C>T	p.Leu others(5): Show p.Leu67Phe	ACKR1	ENSG00000213088.13	transcript	ENST00000368122.4	protein_coding	2/2	284/1146	199/1011	67/336	chr1	TogoVar
ACKR1_chr1_159199875_159211500	159205704	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp1 HG01257.hp1 others(3): Show HG00099.hp2 HG00280.hp1 HG01257.hp1 HG01261.hp2 HG03491.hp1 HG03492.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0003 a0005c0005t0001g0003	6	444	0.0135	c.265 others(3): Show c.265C>T	p.Arg others(5): Show p.Arg89Cys	ACKR1	ENSG00000213088.13	transcript	ENST00000368122.4	protein_coding	2/2	350/1146	265/1011	89/336	chr1	TogoVar
ACKR1_chr1_159199875_159211500	159205737	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(19): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp1 HG02559.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 NA20905.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0001 a0005c0005t0001 a0003c0003t0001 a0005c0005t0001	a0003c0003t0001g0003 a0005c0005t0001g0003 a0003c0003t0001g0003 a0005c0005t0001g0003	22	444	0.0495	c.298 others(3): Show c.298G>A	p.Ala others(6): Show p.Ala100Thr	ACKR1	ENSG00000213088.13	transcript	ENST00000368122.4	protein_coding	2/2	383/1146	298/1011	100/336	chr1	TogoVar
ACKR2_chr3_42804445_42872286	42864624	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG01516.hp2 HG02135.hp1 HG00099.hp1 HG01516.hp2 HG02135.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0139 a0003c0004t0003g0141 a0003c0004t0003g0149 a0003c0004t0003g0139 a0003c0004t0003g0141 a0003c0004t0003g0149	3	340	0.0088	c.122 others(3): Show c.122T>C	p.Val others(5): Show p.Val41Ala	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	3/3	328/2990	122/1155	41/384	chr3	TogoVar
ACKR2_chr3_42804445_42872286	42865091	G G	T T	missense_variant missense_variant	MODERATE	HG04184.hp2 HG04184.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0123 a0005c0008t0001g0123	1	340	0.0029	c.589 others(3): Show c.589G>T	p.Ala others(6): Show p.Ala197Ser	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	3/3	795/2990	589/1155	197/384	chr3	TogoVar
ACKR2_chr3_42804445_42872286	42865461	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp2 HG03579.hp1 HG03540.hp2 HG03579.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0009 a0004c0005t0009	a0004c0005t0009g0026 a0004c0005t0009g0027 a0004c0005t0009g0026 a0004c0005t0009g0027	2	340	0.0059	c.959 others(3): Show c.959G>A	p.Arg others(6): Show p.Arg320His	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	3/3	1165/2990	959/1155	320/384	chr3	TogoVar

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