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
ABI3BP_chr3_100744156_100998421	100775231	C C	G G	missense_variant missense_variant	MODERATE	HG02683.hp2 HG02683.hp2	a0020 a0020	a0020c0057 a0020c0057	a0020c0057t0002 a0020c0057t0002	a0020c0057t0002g0130 a0020c0057t0002g0130	1	236	0.0042	c.443 others(4): Show c.4438G>C	p.Val others(7): Show p.Val1480Leu	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	60/68	4475/6737	4438/5361	1480/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100775246	T T	C C	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0011 a0011	a0011c0060 a0011c0060	a0011c0060t0023 a0011c0060t0023	a0011c0060t0023g0039 a0011c0060t0023g0039	1	236	0.0042	c.442 others(4): Show c.4423A>G	p.Ile others(7): Show p.Ile1475Val	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	60/68	4460/6737	4423/5361	1475/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100775294	A A	G G	missense_variant missense_variant	MODERATE	HG01975.hp1 HG02486.hp1 HG02970.hp1 others(2): Show HG01975.hp1 HG02486.hp1 HG02970.hp1 HG03098.hp1 NA19240.hp2	a0005 a0017 a0029 a0005 a0017 a0029	a0005c0016 a0017c0051 a0029c0034 a0005c0016 a0017c0051 a0029c0034	a0005c0016t0013 a0017c0051t0010 a0029c0034t0030 a0005c0016t0013 a0017c0051t0010 a0029c0034t0030	a0005c0016t0013g0013 a0005c0016t0013g0014 a0005c0016t0013g0152 others(2): Show a0005c0016t0013g0013 a0005c0016t0013g0014 a0005c0016t0013g0152 a0017c0051t0010g0018 a0029c0034t0030g0044	5	236	0.0212	c.437 others(4): Show c.4375T>C	p.Ser others(7): Show p.Ser1459Pro	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	60/68	4412/6737	4375/5361	1459/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100787797	T T	C C	missense_variant missense_variant	MODERATE	HG02486.hp1 NA19240.hp2 HG02486.hp1 NA19240.hp2	a0017 a0029 a0017 a0029	a0017c0051 a0029c0034 a0017c0051 a0029c0034	a0017c0051t0010 a0029c0034t0030 a0017c0051t0010 a0029c0034t0030	a0017c0051t0010g0018 a0029c0034t0030g0044 a0017c0051t0010g0018 a0029c0034t0030g0044	2	236	0.0085	c.409 others(4): Show c.4093A>G	p.Asn others(7): Show p.Asn1365Asp	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	57/68	4130/6737	4093/5361	1365/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100810463	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0011 a0011	a0011c0060 a0011c0060	a0011c0060t0023 a0011c0060t0023	a0011c0060t0023g0039 a0011c0060t0023g0039	1	236	0.0042	c.355 others(4): Show c.3556C>T	p.Pro others(7): Show p.Pro1186Ser	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	49/68	3593/6737	3556/5361	1186/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100811247	G G	T T	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0024 a0024	a0024c0031 a0024c0031	a0024c0031t0020 a0024c0031t0020	a0024c0031t0020g0045 a0024c0031t0020g0045	1	236	0.0042	c.352 others(4): Show c.3524C>A	p.Pro others(7): Show p.Pro1175Gln	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	48/68	3561/6737	3524/5361	1175/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100813663	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp1 HG01891.hp2 HG02486.hp1 others(1): Show HG01884.hp1 HG01891.hp2 HG02486.hp1 NA19030.hp2	a0008 a0017 a0008 a0017	a0008c0023 a0008c0030 a0017c0051 a0008c0023 a0008c0030 a0017c0051	a0008c0023t0002 a0008c0023t0017 a0008c0030t0017 others(1): Show a0008c0023t0002 a0008c0023t0017 a0008c0030t0017 a0017c0051t0010	a0008c0023t0002g0006 a0008c0023t0017g0005 a0008c0030t0017g0153 others(1): Show a0008c0023t0002g0006 a0008c0023t0017g0005 a0008c0030t0017g0153 a0017c0051t0010g0018	4	236	0.0169	c.336 others(4): Show c.3362C>A	p.Pro others(7): Show p.Pro1121His	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	45/68	3399/6737	3362/5361	1121/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100813666	T T	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(19): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG01106.hp2 HG01192.hp2 HG01258.hp1 HG01346.hp2 HG01981.hp2 HG02004.hp2 HG02698.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp2 HG04228.hp1 NA18947.hp1 NA18948.hp1 NA18962.hp2 NA18967.hp2 NA18970.hp1 NA19081.hp1	a0004 a0007 a0011 others(3): Show a0004 a0007 a0011 a0013 a0014 a0026	a0004c0007 a0004c0015 a0004c0049 others(6): Show a0004c0007 a0004c0015 a0004c0049 a0007c0018 a0007c0025 a0011c0060 a0013c0063 a0014c0052 a0026c0033	a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 others(10): Show a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 a0004c0015t0001 a0004c0049t0001 a0007c0018t0004 a0007c0018t0039 a0007c0025t0001 a0007c0025t0035 a0011c0060t0023 a0013c0063t0001 a0014c0052t0001 a0026c0033t0006	a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0093 others(19): Show a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0093 a0004c0007t0001g0108 a0004c0007t0001g0113 a0004c0007t0004g0182 a0004c0007t0004g0238 a0004c0007t0038g0237 a0004c0015t0001g0037 a0004c0015t0001g0043 a0004c0015t0001g0123 a0004c0015t0001g0126 a0004c0049t0001g0120 a0007c0018t0004g0212 a0007c0018t0004g0223 a0007c0018t0039g0200 a0007c0025t0001g0127 a0007c0025t0035g0190 a0011c0060t0023g0039 a0013c0063t0001g0020 a0014c0052t0001g0035 a0026c0033t0006g0181	22	236	0.0932	c.335 others(4): Show c.3359A>T	p.Gln others(7): Show p.Gln1120Leu	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	45/68	3396/6737	3359/5361	1120/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100817493	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19054.hp2 NA19054.hp2	a0028 a0028	a0028c0058 a0028c0058	a0028c0058t0006 a0028c0058t0006	a0028c0058t0006g0169 a0028c0058t0006g0169	1	236	0.0042	c.309 others(4): Show c.3091G>T	p.Val others(7): Show p.Val1031Phe	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	42/68	3128/6737	3091/5361	1031/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100820246	C C	A A	missense_variant missense_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0029 a0029	a0029c0034 a0029c0034	a0029c0034t0030 a0029c0034t0030	a0029c0034t0030g0044 a0029c0034t0030g0044	1	236	0.0042	c.300 others(4): Show c.3005G>T	p.Ser others(7): Show p.Ser1002Ile	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	40/68	3042/6737	3005/5361	1002/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100825833	C C	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0022 a0022	a0022c0040 a0022c0040	a0022c0040t0029 a0022c0040t0029	a0022c0040t0029g0090 a0022c0040t0029g0090	1	236	0.0042	c.261 others(4): Show c.2614G>C	p.Asp others(6): Show p.Asp872His	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	35/68	2651/6737	2614/5361	872/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100829599	C C	G G	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0027 a0027	a0027c0037 a0027c0037	a0027c0037t0007 a0027c0037t0007	a0027c0037t0007g0143 a0027c0037t0007g0143	1	236	0.0042	c.252 others(4): Show c.2524G>C	p.Glu others(6): Show p.Glu842Gln	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	33/68	2561/6737	2524/5361	842/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100829640	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(18): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG01106.hp2 HG01192.hp2 HG01258.hp1 HG01346.hp2 HG01981.hp2 HG02004.hp2 HG02698.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp2 HG04228.hp1 NA18947.hp1 NA18948.hp1 NA18962.hp2 NA18967.hp2 NA19081.hp1	a0004 a0007 a0011 others(2): Show a0004 a0007 a0011 a0013 a0014	a0004c0007 a0004c0015 a0004c0049 others(5): Show a0004c0007 a0004c0015 a0004c0049 a0007c0018 a0007c0025 a0011c0060 a0013c0063 a0014c0052	a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 others(9): Show a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 a0004c0015t0001 a0004c0049t0001 a0007c0018t0004 a0007c0018t0039 a0007c0025t0001 a0007c0025t0035 a0011c0060t0023 a0013c0063t0001 a0014c0052t0001	a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0093 others(18): Show a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0093 a0004c0007t0001g0108 a0004c0007t0001g0113 a0004c0007t0004g0182 a0004c0007t0004g0238 a0004c0007t0038g0237 a0004c0015t0001g0037 a0004c0015t0001g0043 a0004c0015t0001g0123 a0004c0015t0001g0126 a0004c0049t0001g0120 a0007c0018t0004g0212 a0007c0018t0004g0223 a0007c0018t0039g0200 a0007c0025t0001g0127 a0007c0025t0035g0190 a0011c0060t0023g0039 a0013c0063t0001g0020 a0014c0052t0001g0035	21	236	0.0890	c.248 others(4): Show c.2483A>G	p.His others(6): Show p.His828Arg	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	33/68	2520/6737	2483/5361	828/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100832321	G G	A A	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0018 a0018	a0018c0038 a0018c0038	a0018c0038t0012 a0018c0038t0012	a0018c0038t0012g0159 a0018c0038t0012g0159	1	236	0.0042	c.234 others(4): Show c.2344C>T	p.Arg others(6): Show p.Arg782Cys	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	31/68	2381/6737	2344/5361	782/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100834710	C C	T T	missense_variant missense_variant	MODERATE	HG02698.hp2 HG02698.hp2	a0021 a0021	a0021c0055 a0021c0055	a0021c0055t0005 a0021c0055t0005	a0021c0055t0005g0036 a0021c0055t0005g0036	1	236	0.0042	c.225 others(4): Show c.2255G>A	p.Arg others(6): Show p.Arg752His	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	29/68	2292/6737	2255/5361	752/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100838461	G G	A A	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0019 a0019	a0019c0053 a0019c0053	a0019c0053t0002 a0019c0053t0002	a0019c0053t0002g0011 a0019c0053t0002g0011	1	236	0.0042	c.194 others(4): Show c.1949C>T	p.Ser others(6): Show p.Ser650Leu	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	25/68	1986/6737	1949/5361	650/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100839572	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00323.hp1 HG00438.hp1 others(63): Show HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00741.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18943.hp1 NA18947.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp2 NA18977.hp1 NA19007.hp2 NA19043.hp2 NA19062.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20905.hp1	a0002 a0007 a0009 others(5): Show a0002 a0007 a0009 a0014 a0017 a0018 a0025 a0027	a0002c0002 a0002c0006 a0002c0008 others(12): Show a0002c0002 a0002c0006 a0002c0008 a0002c0010 a0002c0012 a0002c0019 a0002c0045 a0007c0018 a0007c0025 a0009c0021 a0014c0052 a0017c0051 a0018c0038 a0025c0036 a0027c0037	a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 others(29): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0011 a0002c0002t0014 a0002c0002t0027 a0002c0006t0001 a0002c0006t0004 a0002c0008t0001 a0002c0008t0004 a0002c0008t0019 a0002c0008t0032 a0002c0010t0002 a0002c0012t0001 a0002c0012t0011 a0002c0019t0002 a0002c0019t0005 a0002c0045t0003 a0007c0018t0004 a0007c0018t0039 a0007c0025t0001 a0007c0025t0035 a0009c0021t0005 a0014c0052t0001 a0017c0051t0010 a0018c0038t0012 a0025c0036t0009 a0027c0037t0007	a0002c0002t0002g0053 a0002c0002t0002g0061 a0002c0002t0002g0069 others(63): Show a0002c0002t0002g0053 a0002c0002t0002g0061 a0002c0002t0002g0069 a0002c0002t0002g0087 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0109 a0002c0002t0003g0050 a0002c0002t0003g0067 a0002c0002t0003g0070 a0002c0002t0003g0079 a0002c0002t0003g0141 a0002c0002t0003g0156 a0002c0002t0005g0057 a0002c0002t0005g0074 a0002c0002t0005g0110 a0002c0002t0006g0183 a0002c0002t0007g0155 a0002c0002t0008g0197 a0002c0002t0008g0228 a0002c0002t0010g0142 a0002c0002t0011g0176 a0002c0002t0014g0178 a0002c0002t0027g0055 a0002c0006t0001g0003 a0002c0006t0001g0081 a0002c0006t0001g0100 a0002c0006t0001g0103 a0002c0006t0001g0163 a0002c0006t0004g0213 a0002c0006t0004g0230 a0002c0006t0004g0231 a0002c0006t0004g0235 a0002c0008t0001g0056 a0002c0008t0001g0059 a0002c0008t0001g0072 a0002c0008t0001g0094 a0002c0008t0001g0098 a0002c0008t0004g0207 a0002c0008t0019g0144 a0002c0008t0032g0060 a0002c0010t0002g0066 a0002c0010t0002g0101 a0002c0010t0002g0102 a0002c0010t0002g0107 a0002c0010t0002g0165 a0002c0012t0001g0001 a0002c0012t0001g0135 a0002c0012t0001g0158 a0002c0012t0011g0202 a0002c0019t0002g0131 a0002c0019t0005g0033 a0002c0019t0005g0129 a0002c0045t0003g0145 a0007c0018t0004g0212 a0007c0018t0004g0223 a0007c0018t0039g0200 a0007c0025t0001g0127 a0007c0025t0035g0190 a0009c0021t0005g0115 a0009c0021t0005g0117 a0014c0052t0001g0035 a0017c0051t0010g0018 a0018c0038t0012g0159 a0025c0036t0009g0189 a0027c0037t0007g0143	66	236	0.2797	c.194 others(4): Show c.1942A>G	p.Thr others(6): Show p.Thr648Ala	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	24/68	1979/6737	1942/5361	648/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100842016	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00408.hp1 HG00733.hp1 others(30): Show HG00099.hp1 HG00408.hp1 HG00733.hp1 HG01106.hp2 HG01123.hp1 HG01496.hp1 HG01981.hp1 HG02027.hp1 HG02258.hp1 HG02486.hp2 HG02622.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18947.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18990.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19063.hp1 NA19066.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1	a0003 a0010 a0013 others(1): Show a0003 a0010 a0013 a0022	a0003c0003 a0003c0020 a0003c0026 others(8): Show a0003c0003 a0003c0020 a0003c0026 a0003c0027 a0003c0041 a0003c0050 a0003c0062 a0010c0039 a0010c0061 a0013c0063 a0022c0040	a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 others(12): Show a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 a0003c0003t0007 a0003c0003t0015 a0003c0020t0004 a0003c0026t0001 a0003c0027t0002 a0003c0041t0011 a0003c0050t0002 a0003c0062t0011 a0010c0039t0012 a0010c0061t0016 a0013c0063t0001 a0022c0040t0029	a0003c0003t0003g0046 a0003c0003t0003g0048 a0003c0003t0003g0049 others(30): Show a0003c0003t0003g0046 a0003c0003t0003g0048 a0003c0003t0003g0049 a0003c0003t0003g0051 a0003c0003t0003g0062 a0003c0003t0003g0064 a0003c0003t0003g0088 a0003c0003t0003g0092 a0003c0003t0003g0146 a0003c0003t0003g0162 a0003c0003t0005g0099 a0003c0003t0006g0168 a0003c0003t0006g0187 a0003c0003t0006g0209 a0003c0003t0006g0214 a0003c0003t0006g0217 a0003c0003t0006g0222 a0003c0003t0006g0236 a0003c0003t0007g0150 a0003c0003t0015g0220 a0003c0020t0004g0179 a0003c0020t0004g0211 a0003c0026t0001g0024 a0003c0026t0001g0128 a0003c0027t0002g0009 a0003c0027t0002g0023 a0003c0041t0011g0180 a0003c0050t0002g0121 a0003c0062t0011g0225 a0010c0039t0012g0151 a0010c0061t0016g0226 a0013c0063t0001g0020 a0022c0040t0029g0090	33	236	0.1398	c.174 others(4): Show c.1747C>T	p.Pro others(6): Show p.Pro583Ser	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	21/68	1784/6737	1747/5361	583/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100846434	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02280.hp2 HG02615.hp2 others(3): Show HG02055.hp1 HG02280.hp2 HG02615.hp2 HG02818.hp2 HG02965.hp2 HG03471.hp2	a0006 a0006	a0006c0011 a0006c0042 a0006c0011 a0006c0042	a0006c0011t0007 a0006c0011t0012 a0006c0011t0022 others(2): Show a0006c0011t0007 a0006c0011t0012 a0006c0011t0022 a0006c0011t0026 a0006c0042t0011	a0006c0011t0007g0157 a0006c0011t0012g0139 a0006c0011t0022g0171 others(3): Show a0006c0011t0007g0157 a0006c0011t0012g0139 a0006c0011t0022g0171 a0006c0011t0022g0173 a0006c0011t0026g0138 a0006c0042t0011g0172	6	236	0.0254	c.166 others(4): Show c.1661C>T	p.Thr others(6): Show p.Thr554Ile	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	20/68	1698/6737	1661/5361	554/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100847637	A A	G G	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0019 a0019	a0019c0053 a0019c0053	a0019c0053t0002 a0019c0053t0002	a0019c0053t0002g0011 a0019c0053t0002g0011	1	236	0.0042	c.161 others(4): Show c.1613T>C	p.Ile others(6): Show p.Ile538Thr	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	19/68	1650/6737	1613/5361	538/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100850053	G G	A A	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0023 a0023	a0023c0043 a0023c0043	a0023c0043t0004 a0023c0043t0004	a0023c0043t0004g0205 a0023c0043t0004g0205	1	236	0.0042	c.149 others(4): Show c.1493C>T	p.Thr others(6): Show p.Thr498Met	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	17/68	1530/6737	1493/5361	498/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100862380	T T	C C	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02280.hp1	a0016 a0016	a0016c0044 a0016c0044	a0016c0044t0036 a0016c0044t0036	a0016c0044t0036g0174 a0016c0044t0036g0174	1	236	0.0042	c.121 others(4): Show c.1216A>G	p.Ser others(6): Show p.Ser406Gly	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	14/68	1253/6737	1216/5361	406/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100866946	T T	A A	missense_variant missense_variant	MODERATE	HG00735.hp2 HG01952.hp1 HG00735.hp2 HG01952.hp1	a0012 a0015 a0012 a0015	a0012c0047 a0015c0046 a0012c0047 a0015c0046	a0012c0047t0010 a0015c0046t0007 a0012c0047t0010 a0015c0046t0007	a0012c0047t0010g0133 a0015c0046t0007g0154 a0012c0047t0010g0133 a0015c0046t0007g0154	2	236	0.0085	c.921 others(3): Show c.921A>T	p.Glu others(6): Show p.Glu307Asp	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	10/68	958/6737	921/5361	307/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100866948	C C	T T	missense_variant missense_variant	MODERATE	HG01192.hp2 HG01361.hp1 HG01515.hp2 HG01192.hp2 HG01361.hp1 HG01515.hp2	a0009 a0014 a0009 a0014	a0009c0021 a0014c0052 a0009c0021 a0014c0052	a0009c0021t0005 a0014c0052t0001 a0009c0021t0005 a0014c0052t0001	a0009c0021t0005g0115 a0009c0021t0005g0117 a0014c0052t0001g0035 a0009c0021t0005g0115 a0009c0021t0005g0117 a0014c0052t0001g0035	3	236	0.0127	c.919 others(3): Show c.919G>A	p.Glu others(6): Show p.Glu307Lys	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	10/68	956/6737	919/5361	307/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100886236	G G	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0017 a0017	a0017c0051 a0017c0051	a0017c0051t0010 a0017c0051t0010	a0017c0051t0010g0018 a0017c0051t0010g0018	1	236	0.0042	c.549 others(3): Show c.549C>A	p.Asn others(6): Show p.Asn183Lys	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	5/68	586/6737	549/5361	183/1786	chr3	TogoVar
ABI3_chr17_49205707_49228225	49216544	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00738.hp1 HG01070.hp2 others(38): Show HG00280.hp2 HG00738.hp1 HG01070.hp2 HG01192.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp2 HG02683.hp1 HG02735.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18947.hp1 NA18951.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18974.hp2 NA18978.hp1 NA19007.hp2 NA19070.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0017 others(10): Show a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0017 a0002c0002t0001g0024 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0069 a0002c0002t0001g0095 a0002c0002t0001g0106	41	446	0.0919	c.131 others(3): Show c.131G>A	p.Arg others(5): Show p.Arg44Gln	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding	2/8	149/1629	131/1101	44/366	chr17	TogoVar
ABI3_chr17_49205707_49228225	49216637	T T	C C	missense_variant missense_variant	MODERATE	NA19010.hp2 NA19010.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0001 a0007c0006t0001g0001	1	446	0.0022	c.224 others(3): Show c.224T>C	p.Met others(5): Show p.Met75Thr	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding	2/8	242/1629	224/1101	75/366	chr17	TogoVar
ABI3_chr17_49205707_49228225	49217796	G G	C C	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0007 a0003c0007t0001g0007	1	446	0.0022	c.343 others(3): Show c.343G>C	p.Val others(6): Show p.Val115Leu	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding	3/8	361/1629	343/1101	115/366	chr17	TogoVar
ABI3_chr17_49205707_49228225	49217803	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0102 a0006c0008t0001g0102	1	446	0.0022	c.350 others(3): Show c.350G>A	p.Arg others(6): Show p.Arg117Gln	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding	3/8	368/1629	350/1101	117/366	chr17	TogoVar
ABI3_chr17_49205707_49228225	49219908	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0005 a0005c0009t0001g0005	1	446	0.0022	c.599 others(3): Show c.599G>A	p.Gly others(6): Show p.Gly200Asp	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding	5/8	617/1629	599/1101	200/366	chr17	TogoVar
ABI3_chr17_49205707_49228225	49222147	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0070 a0004c0011t0001g0070	1	446	0.0022	c.859 others(3): Show c.859G>A	p.Glu others(6): Show p.Glu287Lys	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding	7/8	877/1629	859/1101	287/366	chr17	TogoVar
ABITRAM_chr9_108929400_108945954	108934515	C C	T T	missense_variant missense_variant	MODERATE	HG01433.hp2 HG01496.hp1 HG01515.hp2 others(4): Show HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG03041.hp1 HG04115.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0005g0012 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0005g0012	7	456	0.0154	c.29C others(2): Show c.29C>T	p.Pro others(5): Show p.Pro10Leu	ABITRAM	ENSG00000119328.12	transcript	ENST00000322940.11	protein_coding	1/6	116/1901	29/546	10/181	chr9	TogoVar
ABITRAM_chr9_108929400_108945954	108934551	G G	T T	missense_variant missense_variant	MODERATE	NA19012.hp1 NA19012.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0007 a0003c0004t0001g0007	1	456	0.0022	c.65G others(2): Show c.65G>T	p.Arg others(5): Show p.Arg22Leu	ABITRAM	ENSG00000119328.12	transcript	ENST00000322940.11	protein_coding	1/6	152/1901	65/546	22/181	chr9	TogoVar
ABL1_chr9_130830254_130892675	130854112	G G	A A	missense_variant missense_variant	MODERATE	HG01361.hp2 HG01943.hp2 HG01361.hp2 HG01943.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0004 a0003c0012t0004	a0003c0012t0004g0003 a0003c0012t0004g0213 a0003c0012t0004g0003 a0003c0012t0004g0213	2	276	0.0072	c.128 others(3): Show c.128G>A	p.Ser others(5): Show p.Ser43Asn	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	2/11	321/5578	128/3393	43/1130	chr9	TogoVar
ABL1_chr9_130830254_130892675	130878562	G G	A A	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0008 a0007c0014t0008	a0007c0014t0008g0037 a0007c0014t0008g0037	1	276	0.0036	c.141 others(4): Show c.1418G>A	p.Arg others(6): Show p.Arg473Gln	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	8/11	1611/5578	1418/3393	473/1130	chr9	TogoVar
ABL1_chr9_130830254_130892675	130884323	G G	A A	missense_variant missense_variant	MODERATE	NA19088.hp1 NA19088.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0155 a0008c0016t0001g0155	1	276	0.0036	c.203 others(4): Show c.2033G>A	p.Gly others(6): Show p.Gly678Asp	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	11/11	2226/5578	2033/3393	678/1130	chr9	TogoVar
ABL1_chr9_130830254_130892675	130884325	T T	G G	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0110 a0004c0017t0001g0110	1	276	0.0036	c.203 others(4): Show c.2035T>G	p.Ser others(6): Show p.Ser679Ala	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	11/11	2228/5578	2035/3393	679/1130	chr9	TogoVar
ABL1_chr9_130830254_130892675	130884388	A A	G G	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0004 a0006c0015t0004	a0006c0015t0004g0199 a0006c0015t0004g0199	1	276	0.0036	c.209 others(4): Show c.2098A>G	p.Thr others(6): Show p.Thr700Ala	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	11/11	2291/5578	2098/3393	700/1130	chr9	TogoVar
ABL1_chr9_130830254_130892675	130884719	C C	T T	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01123.hp1	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0001 a0005c0022t0001	a0005c0022t0001g0011 a0005c0022t0001g0011	1	276	0.0036	c.242 others(4): Show c.2429C>T	p.Pro others(6): Show p.Pro810Leu	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	11/11	2622/5578	2429/3393	810/1130	chr9	TogoVar
ABL1_chr9_130830254_130892675	130885205	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp1 HG01123.hp2 HG01361.hp2 others(5): Show HG00639.hp1 HG01123.hp2 HG01361.hp2 HG01433.hp2 HG01943.hp2 HG02615.hp1 HG03540.hp2 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0012 a0002c0005 a0003c0012	a0002c0005t0004 a0003c0012t0004 a0002c0005t0004 a0003c0012t0004	a0002c0005t0004g0003 a0002c0005t0004g0189 a0002c0005t0004g0212 others(4): Show a0002c0005t0004g0003 a0002c0005t0004g0189 a0002c0005t0004g0212 a0002c0005t0004g0214 a0002c0005t0004g0242 a0003c0012t0004g0003 a0003c0012t0004g0213	8	276	0.0290	c.291 others(4): Show c.2915C>T	p.Ser others(6): Show p.Ser972Leu	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	11/11	3108/5578	2915/3393	972/1130	chr9	TogoVar
ABL2_chr1_179094330_179234677	179107777	G G	C C	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00544.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0003 a0005c0012t0003	a0005c0012t0003g0323 a0005c0012t0003g0323	1	348	0.0029	c.349 others(4): Show c.3490C>G	p.Pro others(7): Show p.Pro1164Ala	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	3770/12217	3490/3549	1164/1182	chr1	TogoVar
ABL2_chr1_179094330_179234677	179107974	C C	T T	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp1 HG02109.hp2 others(1): Show HG01070.hp1 HG01071.hp1 HG02109.hp2 HG02559.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0252 a0002c0005t0017g0275 a0002c0005t0017g0276 others(1): Show a0002c0005t0017g0252 a0002c0005t0017g0275 a0002c0005t0017g0276 a0002c0005t0017g0277	4	348	0.0115	c.329 others(4): Show c.3293G>A	p.Ser others(7): Show p.Ser1098Asn	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	3573/12217	3293/3549	1098/1182	chr1	TogoVar
ABL2_chr1_179094330_179234677	179108280	G G	C C	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18985.hp2 NA18993.hp1 others(1): Show NA18952.hp1 NA18985.hp2 NA18993.hp1 NA19074.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0150 a0003c0006t0001g0186 a0003c0006t0001g0204 others(1): Show a0003c0006t0001g0150 a0003c0006t0001g0186 a0003c0006t0001g0204 a0003c0006t0001g0208	4	348	0.0115	c.298 others(4): Show c.2987C>G	p.Pro others(6): Show p.Pro996Arg	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	3267/12217	2987/3549	996/1182	chr1	TogoVar
ABL2_chr1_179094330_179234677	179108431	C C	T T	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0055 a0009c0015t0055	a0009c0015t0055g0313 a0009c0015t0055g0313	1	348	0.0029	c.283 others(4): Show c.2836G>A	p.Val others(6): Show p.Val946Met	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	3116/12217	2836/3549	946/1182	chr1	TogoVar
ABL2_chr1_179094330_179234677	179108478	T T	C C	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0226 a0006c0014t0001g0226	1	348	0.0029	c.278 others(4): Show c.2789A>G	p.Lys others(6): Show p.Lys930Arg	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	3069/12217	2789/3549	930/1182	chr1	TogoVar
ABL2_chr1_179094330_179234677	179109210	G G	A A	missense_variant missense_variant	MODERATE	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0026 a0004c0009t0026	a0004c0009t0026g0144 a0004c0009t0026g0146 a0004c0009t0026g0144 a0004c0009t0026g0146	2	348	0.0057	c.205 others(4): Show c.2057C>T	p.Thr others(6): Show p.Thr686Met	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	2337/12217	2057/3549	686/1182	chr1	TogoVar
ABL2_chr1_179094330_179234677	179109393	C C	T T	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0025 a0007c0011t0025	a0007c0011t0025g0155 a0007c0011t0025g0155	1	348	0.0029	c.187 others(4): Show c.1874G>A	p.Arg others(6): Show p.Arg625Gln	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	2154/12217	1874/3549	625/1182	chr1	TogoVar
ABL2_chr1_179094330_179234677	179131469	C C	T T	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18948.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0054 a0008c0010t0002g0054	1	348	0.0029	c.233 others(3): Show c.233G>A	p.Arg others(5): Show p.Arg78His	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	3/12	513/12217	233/3549	78/1182	chr1	TogoVar
ABLIM1_chr10_114426112_114663275	114444053	G G	C C	missense_variant missense_variant	MODERATE	HG02451.hp1 HG03195.hp2 NA19240.hp1 HG02451.hp1 HG03195.hp2 NA19240.hp1	a0003 a0003	a0003c0008 a0003c0023 a0003c0008 a0003c0023	a0003c0008t0012 a0003c0023t0012 a0003c0008t0012 a0003c0023t0012	a0003c0008t0012g0030 a0003c0008t0012g0139 a0003c0023t0012g0134 a0003c0008t0012g0030 a0003c0008t0012g0139 a0003c0023t0012g0134	3	254	0.0118	c.190 others(4): Show c.1909C>G	p.Arg others(6): Show p.Arg637Gly	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	17/23	1984/7560	1909/2337	637/778	chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114447883	C C	T T	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02717.hp1 HG03130.hp1 others(2): Show HG02615.hp1 HG02717.hp1 HG03130.hp1 NA18522.hp1 NA19043.hp1	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0045 a0002c0005t0091 a0002c0005t0092 others(2): Show a0002c0005t0045 a0002c0005t0091 a0002c0005t0092 a0002c0009t0063 a0002c0009t0090	a0002c0005t0045g0060 a0002c0005t0091g0111 a0002c0005t0092g0156 others(2): Show a0002c0005t0045g0060 a0002c0005t0091g0111 a0002c0005t0092g0156 a0002c0009t0063g0144 a0002c0009t0090g0010	5	254	0.0197	c.173 others(4): Show c.1732G>A	p.Val others(6): Show p.Val578Ile	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	15/23	1807/7560	1732/2337	578/778	chr10	TogoVar

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