Joint Open Genome and Omics Platform (JoGo)

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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
ADH4_chr4_99118658_99149297	99127242	T T	G G	missense_variant missense_variant	MODERATE	NA19059.hp1 NA19059.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0070 a0009c0009t0001g0070	1	336	0.0030	c.946 others(3): Show c.946A>C	p.Ile others(6): Show p.Ile316Leu	ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding	7/9	1021/2002	946/1143	316/380	chr4	TogoVar
ADH4_chr4_99118658_99149297	99127257	G G	A A	missense_variant missense_variant	MODERATE	NA19059.hp1 NA19059.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0070 a0009c0009t0001g0070	1	336	0.0030	c.931 others(3): Show c.931C>T	p.Pro others(6): Show p.Pro311Ser	ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding	7/9	1006/2002	931/1143	311/380	chr4	TogoVar
ADH4_chr4_99118658_99149297	99127263	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(300): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 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 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 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 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0007 a0003c0004 others(6): Show a0001c0001 a0001c0007 a0003c0004 a0004c0005 a0005c0008 a0006c0010 a0007c0006 a0008c0011 a0009c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0007t0001 a0003c0004t0001 a0004c0005t0001 a0005c0008t0001 a0006c0010t0003 a0007c0006t0001 a0008c0011t0001 a0009c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0003g0008 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0057 a0001c0001t0004g0094 a0001c0001t0005g0092 a0001c0001t0006g0052 a0001c0007t0001g0081 a0003c0004t0001g0015 a0004c0005t0001g0027 a0005c0008t0001g0082 a0006c0010t0003g0058 a0007c0006t0001g0095 a0008c0011t0001g0055 a0009c0009t0001g0070	303	336	0.9018	c.925 others(3): Show c.925A>G	p.Ile others(6): Show p.Ile309Val	ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding	7/9	1000/2002	925/1143	309/380	chr4	TogoVar
ADH4_chr4_99118658_99149297	99131701	C C	G G	missense_variant missense_variant	MODERATE	HG02602.hp2 HG02602.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0095 a0007c0006t0001g0095	1	336	0.0030	c.646 others(3): Show c.646G>C	p.Gly others(6): Show p.Gly216Arg	ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding	6/9	721/2002	646/1143	216/380	chr4	TogoVar
ADH4_chr4_99118658_99149297	99136576	C C	A A	missense_variant missense_variant	MODERATE	HG02027.hp1 HG02083.hp2 HG02132.hp2 others(1): Show HG02027.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0015 a0003c0004t0001g0015	4	336	0.0119	c.472 others(3): Show c.472G>T	p.Val others(6): Show p.Val158Leu	ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding	5/9	547/2002	472/1143	158/380	chr4	TogoVar
ADH4_chr4_99118658_99149297	99141555	G G	A A	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0058 a0006c0010t0003g0058	1	336	0.0030	c.248 others(3): Show c.248C>T	p.Thr others(5): Show p.Thr83Ile	ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding	3/9	323/2002	248/1143	83/380	chr4	TogoVar
ADH4_chr4_99118658_99149297	99141570	A A	G G	missense_variant missense_variant	MODERATE	HG02559.hp1 HG03209.hp1 HG02559.hp1 HG03209.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0027 a0004c0005t0001g0027	2	336	0.0060	c.233 others(3): Show c.233T>C	p.Ile others(5): Show p.Ile78Thr	ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding	3/9	308/2002	233/1143	78/380	chr4	TogoVar
ADH4_chr4_99118658_99149297	99141640	C C	A A	missense_variant missense_variant	MODERATE	HG03688.hp2 HG03688.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0055 a0008c0011t0001g0055	1	336	0.0030	c.163 others(3): Show c.163G>T	p.Asp others(5): Show p.Asp55Tyr	ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding	3/9	238/2002	163/1143	55/380	chr4	TogoVar
ADH5_chr4_99065978_99093788	99076780	A A	G G	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02451.hp1 HG02970.hp1 others(1): Show HG02258.hp1 HG02451.hp1 HG02970.hp1 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0050 a0002c0003t0006g0053 a0002c0003t0006g0055 others(1): Show a0002c0003t0006g0050 a0002c0003t0006g0053 a0002c0003t0006g0055 a0002c0003t0006g0056	4	334	0.0120	c.488 others(3): Show c.488T>C	p.Leu others(6): Show p.Leu163Ser	ADH5	ENSG00000197894.12	transcript	ENST00000296412.14	protein_coding	5/9	576/2652	488/1125	163/374	chr4	TogoVar
ADH5_chr4_99065978_99093788	99085123	G G	C C	missense_variant missense_variant	MODERATE	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0064 a0003c0005t0001g0064	1	334	0.0030	c.106 others(3): Show c.106C>G	p.Arg others(5): Show p.Arg36Gly	ADH5	ENSG00000197894.12	transcript	ENST00000296412.14	protein_coding	2/9	194/2652	106/1125	36/374	chr4	TogoVar
ADH6_chr4_99197639_99224246	99208682	T T	G G	missense_variant missense_variant	MODERATE	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0074 a0003c0008t0003g0074	1	310	0.0032	c.814 others(3): Show c.814A>C	p.Asn others(6): Show p.Asn272His	ADH6	ENSG00000172955.17	transcript	ENST00000394899.6	protein_coding	6/9	908/2802	814/1128	272/375	chr4	TogoVar
ADH6_chr4_99197639_99224246	99210425	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02451.hp1 HG02970.hp2 others(4): Show HG02258.hp2 HG02451.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03486.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0011 a0002c0003t0001g0027 a0002c0003t0001g0094 a0002c0003t0001g0011 a0002c0003t0001g0027 a0002c0003t0001g0094	7	310	0.0226	c.340 others(3): Show c.340A>G	p.Ile others(6): Show p.Ile114Val	ADH6	ENSG00000172955.17	transcript	ENST00000394899.6	protein_coding	4/9	434/2802	340/1128	114/375	chr4	TogoVar
ADH6_chr4_99197639_99224246	99210461	A A	C C	missense_variant missense_variant	MODERATE	HG02056.hp1 HG02056.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0079 a0004c0005t0001g0079	1	310	0.0032	c.304 others(3): Show c.304T>G	p.Cys others(6): Show p.Cys102Gly	ADH6	ENSG00000172955.17	transcript	ENST00000394899.6	protein_coding	4/9	398/2802	304/1128	102/375	chr4	TogoVar
ADH7_chr4_99407263_99440342	99413155	G G	C C	missense_variant missense_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0002 a0011c0012t0002	a0011c0012t0002g0087 a0011c0012t0002g0087	1	414	0.0024	c.111 others(4): Show c.1118C>G	p.Thr others(6): Show p.Thr373Arg	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	9/9	1227/2119	1118/1125	373/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99415533	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0003 a0010c0011t0003	a0010c0011t0003g0071 a0010c0011t0003g0071	1	414	0.0024	c.104 others(4): Show c.1045G>A	p.Val others(6): Show p.Val349Ile	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	8/9	1154/2119	1045/1125	349/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99419012	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0076 a0008c0010t0002g0076	1	414	0.0024	c.935 others(3): Show c.935G>A	p.Arg others(6): Show p.Arg312His	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	7/9	1044/2119	935/1125	312/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99420534	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01070.hp1 HG01070.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0121 a0005c0009t0002g0121	1	414	0.0024	c.824 others(3): Show c.824T>C	p.Met others(6): Show p.Met275Thr	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	6/9	933/2119	824/1125	275/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99420641	C C	A A	missense_variant missense_variant	MODERATE	NA18941.hp1 NA18941.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0006 a0012c0013t0006	a0012c0013t0006g0207 a0012c0013t0006g0207	1	414	0.0024	c.717 others(3): Show c.717G>T	p.Glu others(6): Show p.Glu239Asp	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	6/9	826/2119	717/1125	239/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99420661	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp2 HG03579.hp2 NA19043.hp2 HG02257.hp2 HG03579.hp2 NA19043.hp2	a0004 a0014 a0004 a0014	a0004c0005 a0014c0016 a0004c0005 a0014c0016	a0004c0005t0003 a0004c0005t0004 a0014c0016t0003 a0004c0005t0003 a0004c0005t0004 a0014c0016t0003	a0004c0005t0003g0158 a0004c0005t0004g0169 a0014c0016t0003g0159 a0004c0005t0003g0158 a0004c0005t0004g0169 a0014c0016t0003g0159	3	414	0.0072	c.697 others(3): Show c.697A>G	p.Met others(6): Show p.Met233Val	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	6/9	806/2119	697/1125	233/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99420682	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01975.hp2 HG02258.hp2 others(17): Show HG01884.hp2 HG01975.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03516.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004	a0002c0003t0002g0167 a0002c0003t0003g0042 a0002c0003t0003g0163 others(9): Show a0002c0003t0002g0167 a0002c0003t0003g0042 a0002c0003t0003g0163 a0002c0003t0003g0164 a0002c0003t0003g0166 a0002c0003t0003g0168 a0002c0003t0004g0014 a0002c0003t0004g0020 a0002c0003t0004g0043 a0002c0003t0004g0044 a0002c0003t0004g0162 a0002c0003t0004g0165	20	414	0.0483	c.676 others(3): Show c.676A>G	p.Lys others(6): Show p.Lys226Glu	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	6/9	785/2119	676/1125	226/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99420699	A A	G G	missense_variant missense_variant	MODERATE	HG02965.hp2 HG02965.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0003 a0009c0008t0003	a0009c0008t0003g0092 a0009c0008t0003g0092	1	414	0.0024	c.659 others(3): Show c.659T>C	p.Ile others(6): Show p.Ile220Thr	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	6/9	768/2119	659/1125	220/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99427846	G G	C C	missense_variant missense_variant	MODERATE	NA19084.hp1 NA19084.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0002 a0016c0014t0002	a0016c0014t0002g0217 a0016c0014t0002g0217	1	414	0.0024	c.491 others(3): Show c.491C>G	p.Ala others(6): Show p.Ala164Gly	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	5/9	600/2119	491/1125	164/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99427879	T T	C C	missense_variant missense_variant	MODERATE	HG01346.hp1 HG01346.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0002 a0006c0015t0002	a0006c0015t0002g0218 a0006c0015t0002g0218	1	414	0.0024	c.458 others(3): Show c.458A>G	p.Asp others(6): Show p.Asp153Gly	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	5/9	567/2119	458/1125	153/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99427895	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0004	a0007c0007t0004g0077 a0007c0007t0004g0077	1	414	0.0024	c.442 others(3): Show c.442G>A	p.Glu others(6): Show p.Glu148Lys	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	5/9	551/2119	442/1125	148/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99428127	C C	T T	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0015 a0015	a0015c0006 a0015c0006	a0015c0006t0001 a0015c0006t0001	a0015c0006t0001g0140 a0015c0006t0001g0140	1	414	0.0024	c.307 others(3): Show c.307G>A	p.Ala others(6): Show p.Ala103Thr	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	4/9	416/2119	307/1125	103/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99428512	C C	G G	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00639.hp1 HG00642.hp1 others(4): Show HG00280.hp2 HG00639.hp1 HG00642.hp1 HG01123.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0003 a0003c0004t0006 a0003c0004t0002 a0003c0004t0003 a0003c0004t0006	a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0171 others(2): Show a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0171 a0003c0004t0003g0017 a0003c0004t0006g0170	7	414	0.0169	c.239 others(3): Show c.239G>C	p.Gly others(5): Show p.Gly80Ala	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	3/9	348/2119	239/1125	80/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99429554	T T	C C	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0003 a0014c0016t0003	a0014c0016t0003g0159 a0014c0016t0003g0159	1	414	0.0024	c.98A others(2): Show c.98A>G	p.Lys others(5): Show p.Lys33Arg	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	2/9	207/2119	98/1125	33/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99435220	C C	A A	missense_variant missense_variant	MODERATE	NA18965.hp2 NA18965.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0220 a0013c0017t0001g0220	1	414	0.0024	c.14G others(2): Show c.14G>T	p.Gly others(4): Show p.Gly5Val	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	1/9	123/2119	14/1125	5/374	chr4	TogoVar
ADHFE1_chr8_66427504_66473907	66444597	C C	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0222 a0005c0007t0001g0222	1	400	0.0025	c.202 others(3): Show c.202C>G	p.Leu others(5): Show p.Leu68Val	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding	5/14	215/1972	202/1404	68/467	chr8	TogoVar
ADHFE1_chr8_66427504_66473907	66445348	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0253 a0004c0004t0001g0253	1	400	0.0025	c.484 others(3): Show c.484G>A	p.Asp others(6): Show p.Asp162Asn	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding	6/14	497/1972	484/1404	162/467	chr8	TogoVar
ADHFE1_chr8_66427504_66473907	66468293	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(224): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19064.hp2 NA19067.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0003c0006 a0004c0004 a0005c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0003t0001 a0001c0005t0004 a0003c0006t0001 a0004c0004t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(174): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0189 a0001c0001t0001g0234 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0004g0005 a0001c0001t0004g0097 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0152 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0206 a0001c0001t0004g0229 a0001c0001t0004g0235 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0006g0076 a0001c0003t0001g0037 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0075 a0001c0003t0001g0112 a0001c0003t0001g0265 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0300 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0308 a0001c0003t0001g0310 a0001c0005t0004g0122 a0003c0006t0001g0003 a0004c0004t0001g0253 a0005c0007t0001g0222	227	400	0.5675	c.134 others(4): Show c.1345T>C	p.Cys others(6): Show p.Cys449Arg	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding	14/14	1358/1972	1345/1404	449/467	chr8	TogoVar
ADI1_chr2_3492366_3524531	3499049	C C	T T	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02280.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0204 a0006c0008t0002g0204	1	390	0.0026	c.454 others(3): Show c.454G>A	p.Glu others(6): Show p.Glu152Lys	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	4/4	498/2181	454/540	152/179	chr2	TogoVar
ADI1_chr2_3492366_3524531	3500819	C C	T T	missense_variant missense_variant	MODERATE	HG00544.hp1 NA18950.hp1 NA19064.hp1 HG00544.hp1 NA18950.hp1 NA19064.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0007 a0003c0004t0002 a0003c0004t0007	a0003c0004t0002g0222 a0003c0004t0007g0028 a0003c0004t0002g0222 a0003c0004t0007g0028	3	390	0.0077	c.415 others(3): Show c.415G>A	p.Glu others(6): Show p.Glu139Lys	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	3/4	459/2181	415/540	139/179	chr2	TogoVar
ADI1_chr2_3492366_3524531	3500848	G G	A A	missense_variant missense_variant	MODERATE	NA19054.hp1 NA19057.hp2 NA19054.hp1 NA19057.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0054 a0005c0006t0002g0054	2	390	0.0051	c.386 others(3): Show c.386C>T	p.Ala others(6): Show p.Ala129Val	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	3/4	430/2181	386/540	129/179	chr2	TogoVar
ADI1_chr2_3492366_3524531	3513876	A A	G G	missense_variant missense_variant	MODERATE	NA18997.hp2 NA18997.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0006 a0007c0009t0006	a0007c0009t0006g0150 a0007c0009t0006g0150	1	390	0.0026	c.221 others(3): Show c.221T>C	p.Leu others(5): Show p.Leu74Pro	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	2/4	265/2181	221/540	74/179	chr2	TogoVar
ADI1_chr2_3492366_3524531	3513877	G G	T T	missense_variant missense_variant	MODERATE	NA18997.hp2 NA18997.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0006 a0007c0009t0006	a0007c0009t0006g0150 a0007c0009t0006g0150	1	390	0.0026	c.220 others(3): Show c.220C>A	p.Leu others(5): Show p.Leu74Ile	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	2/4	264/2181	220/540	74/179	chr2	TogoVar
ADI1_chr2_3492366_3524531	3513895	T T	C C	missense_variant missense_variant	MODERATE	HG00558.hp1 NA18947.hp2 NA18948.hp1 others(8): Show HG00558.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18984.hp1 NA18992.hp2 NA18998.hp2 NA19004.hp2 NA19058.hp1 NA19068.hp1 NA19081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0005 a0002c0003t0003g0044 a0002c0003t0003g0184 others(1): Show a0002c0003t0003g0005 a0002c0003t0003g0044 a0002c0003t0003g0184 a0002c0003t0003g0185	11	390	0.0282	c.202 others(3): Show c.202A>G	p.Thr others(5): Show p.Thr68Ala	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	2/4	246/2181	202/540	68/179	chr2	TogoVar
ADI1_chr2_3492366_3524531	3519387	A A	G G	missense_variant missense_variant	MODERATE	NA19072.hp1 NA19072.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0060 a0008c0007t0002g0060	1	390	0.0026	c.101 others(3): Show c.101T>C	p.Leu others(5): Show p.Leu34Pro	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	1/4	145/2181	101/540	34/179	chr2	TogoVar
ADI1_chr2_3492366_3524531	3519421	C C	G G	missense_variant missense_variant	MODERATE	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0025 a0004c0005t0001g0025	2	390	0.0051	c.67G others(2): Show c.67G>C	p.Gly others(5): Show p.Gly23Arg	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	1/4	111/2181	67/540	23/179	chr2	TogoVar
ADIG_chr20_38576197_38593463	38581320	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0055 a0002c0004t0001g0055	1	370	0.0027	c.70C others(2): Show c.70C>T	p.Pro others(5): Show p.Pro24Ser	ADIG	ENSG00000182035.13	transcript	ENST00000537425.3	protein_coding	1/3	124/674	70/243	24/80	chr20	TogoVar
ADIPOQ_chr3_186837710_186863463	186853171	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp1 HG03225.hp2 HG02451.hp1 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0060 a0002c0003t0012g0061 a0002c0003t0012g0060 a0002c0003t0012g0061	2	482	0.0041	c.113 others(3): Show c.113G>A	p.Gly others(5): Show p.Gly38Asp	ADIPOQ	ENSG00000181092.10	transcript	ENST00000320741.7	protein_coding	2/3	161/4542	113/735	38/244	chr3	TogoVar
ADIPOQ_chr3_186837710_186863463	186854630	C C	A A	missense_variant missense_variant	MODERATE	NA18951.hp2 NA19057.hp1 NA18951.hp2 NA19057.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0031 a0003c0004t0005 a0003c0004t0031	a0003c0004t0005g0008 a0003c0004t0031g0008 a0003c0004t0005g0008 a0003c0004t0031g0008	2	482	0.0041	c.661 others(3): Show c.661C>A	p.Arg others(6): Show p.Arg221Ser	ADIPOQ	ENSG00000181092.10	transcript	ENST00000320741.7	protein_coding	3/3	709/4542	661/735	221/244	chr3	TogoVar
ADIPOQ_chr3_186837710_186863463	186854691	A A	C C	missense_variant missense_variant	MODERATE	NA19003.hp1 NA19003.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0187 a0004c0005t0003g0187	1	482	0.0021	c.722 others(3): Show c.722A>C	p.His others(6): Show p.His241Pro	ADIPOQ	ENSG00000181092.10	transcript	ENST00000320741.7	protein_coding	3/3	770/4542	722/735	241/244	chr3	TogoVar
ADIPOR2_chr12_1686070_1793674	1754459	A A	G G	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02818.hp2 HG02965.hp1 others(2): Show HG02615.hp1 HG02818.hp2 HG02965.hp1 HG03225.hp2 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0245 a0002c0004t0008g0246 a0002c0004t0008g0247 others(2): Show a0002c0004t0008g0245 a0002c0004t0008g0246 a0002c0004t0008g0247 a0002c0004t0008g0248 a0002c0004t0008g0249	5	376	0.0133	c.116 others(3): Show c.116A>G	p.Gln others(5): Show p.Gln39Arg	ADIPOR2	ENSG00000006831.10	transcript	ENST00000357103.5	protein_coding	2/8	324/3971	116/1161	39/386	chr12	TogoVar
ADIPOR2_chr12_1686070_1793674	1781001	G G	T T	missense_variant missense_variant	MODERATE	NA18943.hp1 NA18943.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0019 a0004c0009t0019	a0004c0009t0019g0175 a0004c0009t0019g0175	1	376	0.0027	c.763 others(3): Show c.763G>T	p.Val others(6): Show p.Val255Leu	ADIPOR2	ENSG00000006831.10	transcript	ENST00000357103.5	protein_coding	6/8	971/3971	763/1161	255/386	chr12	TogoVar
ADIPOR2_chr12_1686070_1793674	1783948	C C	A A	missense_variant missense_variant	MODERATE	NA19058.hp2 NA19058.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0014 a0005c0007t0014	a0005c0007t0014g0257 a0005c0007t0014g0257	1	376	0.0027	c.907 others(3): Show c.907C>A	p.Leu others(6): Show p.Leu303Ile	ADIPOR2	ENSG00000006831.10	transcript	ENST00000357103.5	protein_coding	7/8	1115/3971	907/1161	303/386	chr12	TogoVar
ADIPOR2_chr12_1686070_1793674	1786064	G G	T T	missense_variant missense_variant	MODERATE	HG04115.hp2 NA20905.hp2 HG04115.hp2 NA20905.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0010 a0003c0006t0001g0011 a0003c0006t0001g0010 a0003c0006t0001g0011	2	376	0.0053	c.115 others(4): Show c.1153G>T	p.Ala others(6): Show p.Ala385Ser	ADIPOR2	ENSG00000006831.10	transcript	ENST00000357103.5	protein_coding	8/8	1361/3971	1153/1161	385/386	chr12	TogoVar
ADISSP_chr20_3748508_3772753	3754143	G G	A A	missense_variant missense_variant	MODERATE	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0244 a0002c0007t0001g0244	1	444	0.0023	c.440 others(3): Show c.440C>T	p.Thr others(6): Show p.Thr147Met	ADISSP	ENSG00000101220.18	transcript	ENST00000379772.4	protein_coding	6/6	617/1252	440/525	147/174	chr20	TogoVar
ADISSP_chr20_3748508_3772753	3754492	G G	C C	missense_variant missense_variant	MODERATE	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0173 a0003c0003t0010g0173	1	444	0.0023	c.329 others(3): Show c.329C>G	p.Ala others(6): Show p.Ala110Gly	ADISSP	ENSG00000101220.18	transcript	ENST00000379772.4	protein_coding	5/6	506/1252	329/525	110/174	chr20	TogoVar
ADISSP_chr20_3748508_3772753	3754493	C C	G G	missense_variant missense_variant	MODERATE	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0173 a0003c0003t0010g0173	1	444	0.0023	c.328 others(3): Show c.328G>C	p.Ala others(6): Show p.Ala110Pro	ADISSP	ENSG00000101220.18	transcript	ENST00000379772.4	protein_coding	5/6	505/1252	328/525	110/174	chr20	TogoVar

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