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	len	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
A2ML1_chr12_8817621_8881787	8874464	C C	T T	stop_gained stop_gained	HIGH	HG00673.hp2 HG00673.hp2	a0022 a0022	a0022c0058 a0022c0058	a0022c0058t0001 a0022c0058t0001	a0022c0058t0001g0244 a0022c0058t0001g0244	1	366	0.0027	0	c.426 others(4): Show c.4261C>T	p.Gln others(5): Show p.Gln1421*	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	34/36	4292/5127	4261/4365	1421/1454	chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33307198	G G	T T	stop_gained stop_gained	HIGH	HG02145.hp1 HG02280.hp2 HG02970.hp1 others(1): Show HG02145.hp1 HG02280.hp2 HG02970.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0044 a0002c0002t0001g0100 a0002c0002t0001g0102	4	416	0.0096	0	c.591 others(3): Show c.591C>A	p.Cys others(4): Show p.Cys197*	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	5/5	591/1023	591/1023	197/340	chr1	TogoVar
AADACL3_chr1_12711110_12733760	12716215	C C	A A	stop_gained stop_gained	HIGH	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01361.hp1 HG01515.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02523.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02976.hp2 HG03139.hp1 HG03516.hp2 HG03654.hp1 HG04199.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0018 others(4): Show a0002c0003 a0002c0004 a0002c0018 a0002c0019 a0002c0020 a0002c0021 a0002c0022	a0002c0003t0003 a0002c0003t0005 a0002c0003t0038 others(11): Show a0002c0003t0003 a0002c0003t0005 a0002c0003t0038 a0002c0004t0002 a0002c0004t0024 a0002c0004t0026 a0002c0004t0040 a0002c0018t0003 a0002c0018t0045 a0002c0019t0017 a0002c0020t0002 a0002c0020t0041 a0002c0021t0025 a0002c0022t0002	a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 others(26): Show a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 a0002c0003t0005g0005 a0002c0003t0005g0035 a0002c0003t0005g0071 a0002c0003t0005g0083 a0002c0003t0005g0085 a0002c0003t0005g0144 a0002c0003t0038g0005 a0002c0004t0002g0006 a0002c0004t0002g0011 a0002c0004t0002g0020 a0002c0004t0002g0030 a0002c0004t0002g0058 a0002c0004t0002g0072 a0002c0004t0002g0088 a0002c0004t0002g0090 a0002c0004t0002g0136 a0002c0004t0024g0006 a0002c0004t0026g0030 a0002c0004t0040g0011 a0002c0018t0003g0005 a0002c0018t0045g0086 a0002c0019t0017g0007 a0002c0020t0002g0020 a0002c0020t0041g0020 a0002c0021t0025g0084 a0002c0022t0002g0020	73	430	0.1698	0	c.39C others(2): Show c.39C>A	p.Cys others(3): Show p.Cys13*	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	1/4	106/4055	39/1224	13/407	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12661798	C C	G G	stop_gained stop_gained	HIGH	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0241 a0003c0004t0001g0241	1	308	0.0032	0	c.393 others(3): Show c.393C>G	p.Tyr others(4): Show p.Tyr131*	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	3/4	855/2027	393/1224	131/407	chr1	TogoVar
AANAT_chr17_76462603_76475117	76469325	C C	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	NA19062.hp1 NA19062.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0001 a0008c0009t0001g0001	1	424	0.0024	0	c.316 others(3): Show c.316C>T	p.Gln others(4): Show p.Gln106*	AANAT	ENSG00000129673.10	transcript	ENST00000392492.8	protein_coding	3/4	516/971	316/624	106/207	chr17	TogoVar
AASDH_chr4_56333290_56392491	56378379	C C	T T	stop_gained stop_gained	HIGH	NA18992.hp2 NA18992.hp2	a0015 a0015	a0015c0013 a0015c0013	a0015c0013t0001 a0015c0013t0001	a0015c0013t0001g0067 a0015c0013t0001g0067	1	380	0.0026	0	c.437 others(3): Show c.437G>A	p.Trp others(4): Show p.Trp146*	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	4/15	609/3581	437/3297	146/1098	chr4	TogoVar
ABCA10_chr17_69143007_69233824	69153832	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00609.hp2 HG00733.hp2 HG01070.hp1 others(39): Show HG00609.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02148.hp2 HG02886.hp1 HG02895.hp1 HG03017.hp2 HG03490.hp2 HG03579.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18945.hp2 NA18965.hp1 NA18974.hp2 NA18985.hp2 NA18989.hp2 NA18993.hp2 NA19000.hp2 NA19002.hp2 NA19030.hp2 NA19060.hp2 NA19068.hp1 NA19074.hp1 NA19086.hp2 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0006 a0004c0004 a0004c0006	a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 others(1): Show a0004c0004t0003 a0004c0004t0011 a0004c0006t0003 a0004c0006t0011	a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 others(38): Show a0004c0004t0003g0007 a0004c0004t0003g0010 a0004c0004t0003g0077 a0004c0004t0003g0108 a0004c0004t0003g0144 a0004c0004t0003g0194 a0004c0004t0003g0208 a0004c0004t0003g0209 a0004c0004t0003g0210 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0235 a0004c0004t0003g0236 a0004c0004t0003g0237 a0004c0004t0003g0238 a0004c0004t0003g0239 a0004c0004t0003g0240 a0004c0004t0003g0242 a0004c0004t0003g0243 a0004c0004t0003g0244 a0004c0004t0003g0248 a0004c0004t0003g0255 a0004c0004t0003g0256 a0004c0004t0003g0270 a0004c0004t0003g0271 a0004c0004t0003g0279 a0004c0004t0003g0303 a0004c0004t0011g0313 a0004c0006t0003g0036 a0004c0006t0003g0037 a0004c0006t0003g0047 a0004c0006t0003g0048 a0004c0006t0003g0053 a0004c0006t0003g0056 a0004c0006t0003g0057 a0004c0006t0003g0107 a0004c0006t0003g0124 a0004c0006t0003g0125 a0004c0006t0003g0155 a0004c0006t0003g0268 a0004c0006t0011g0327	42	346	0.1214	0	c.396 others(4): Show c.3964C>T	p.Arg others(5): Show p.Arg1322*	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	32/39	4520/6008	3964/4632	1322/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69193161	G G	A A	stop_gained stop_gained	HIGH	HG03486.hp2 NA18522.hp2 HG03486.hp2 NA18522.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0004 a0006c0016t0004	a0006c0016t0004g0188 a0006c0016t0004g0191 a0006c0016t0004g0188 a0006c0016t0004g0191	2	346	0.0058	0	c.172 others(4): Show c.1729C>T	p.Arg others(4): Show p.Arg577*	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	15/39	2285/6008	1729/4632	577/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69215890	A A	T T	stop_gained stop_gained	HIGH	HG01099.hp2 HG02055.hp1 HG02486.hp2 others(15): Show HG01099.hp2 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp2 HG03453.hp2 NA18906.hp2 NA20300.hp2	a0005 a0005	a0005c0005 a0005c0013 a0005c0014 a0005c0005 a0005c0013 a0005c0014	a0005c0005t0004 a0005c0005t0015 a0005c0013t0001 others(1): Show a0005c0005t0004 a0005c0005t0015 a0005c0013t0001 a0005c0014t0001	a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 others(15): Show a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0217 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0223 a0005c0005t0004g0241 a0005c0005t0004g0262 a0005c0005t0015g0218 a0005c0013t0001g0042 a0005c0013t0001g0052 a0005c0014t0001g0142 a0005c0014t0001g0224	18	206	0.0874	0	c.783 others(3): Show c.783T>A	p.Tyr others(4): Show p.Tyr261*	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	8/39	1339/6008	783/4632	261/1543	chr17	TogoVar
ABCA10_chr17_69143007_69233824	69219561	G G	A A	stop_gained stop_gained	HIGH	HG02145.hp1 HG02145.hp1	a0017 a0017	a0017c0030 a0017c0030	a0017c0030t0001 a0017c0030t0001	a0017c0030t0001g0260 a0017c0030t0001g0260	1	346	0.0029	0	c.514 others(3): Show c.514C>T	p.Arg others(4): Show p.Arg172*	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	6/39	1070/6008	514/4632	172/1543	chr17	TogoVar
ABCA12_chr2_214926542_215143626	214937608	G G	A A	stop_gained stop_gained	HIGH	HG01243.hp2 HG01243.hp2	a0012 a0012	a0012c0039 a0012c0039	a0012c0039t0012 a0012c0039t0012	a0012c0039t0012g0185 a0012c0039t0012g0185	1	196	0.0051	0	c.744 others(4): Show c.7444C>T	p.Arg others(5): Show p.Arg2482*	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	51/53	7862/9298	7444/7788	2482/2595	chr2	TogoVar
ABCA8_chr17_68862289_68960392	68868099	G G	A A	stop_gained stop_gained	HIGH	HG02258.hp1 HG02258.hp1	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0001 a0015c0030t0001	a0015c0030t0001g0104 a0015c0030t0001g0104	1	272	0.0037	0	c.485 others(4): Show c.4852C>T	p.Gln others(5): Show p.Gln1618*	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	40/40	5192/6002	4852/4866	1618/1621	chr17	TogoVar
ABCA9_chr17_68969488_69065927	69008235	T T	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0268 a0009c0012t0001g0278 a0009c0012t0001g0268 a0009c0012t0001g0278	2	310	0.0065	0	c.314 others(4): Show c.3148A>T	p.Lys others(5): Show p.Lys1050*	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	24/39	3223/6377	3148/4875	1050/1624	chr17	TogoVar
ABCB5_chr7_20610667_20762008	20647610	C C	T T	stop_gained stop_gained	HIGH	HG03516.hp1 HG03516.hp1	a0058 a0058	a0058c0078 a0058c0078	a0058c0078t0004 a0058c0078t0004	a0058c0078t0004g0340 a0058c0078t0004g0340	1	358	0.0028	0	c.105 others(4): Show c.1057C>T	p.Arg others(4): Show p.Arg353*	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	10/28	1249/5350	1057/3774	353/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20681569	T T	A A	stop_gained stop_gained	HIGH	NA18954.hp2 NA18954.hp2	a0065 a0065	a0065c0050 a0065c0050	a0065c0050t0001 a0065c0050t0001	a0065c0050t0001g0329 a0065c0050t0001g0329	1	358	0.0028	0	c.177 others(4): Show c.1772T>A	p.Leu others(4): Show p.Leu591*	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	15/28	1964/5350	1772/3774	591/1257	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20685702	A A	T T	stop_gained stop_gained	HIGH	HG02280.hp2 HG02717.hp2 HG03579.hp2 HG02280.hp2 HG02717.hp2 HG03579.hp2	a0018 a0018	a0018c0084 a0018c0085 a0018c0086 a0018c0084 a0018c0085 a0018c0086	a0018c0084t0004 a0018c0085t0004 a0018c0086t0004 a0018c0084t0004 a0018c0085t0004 a0018c0086t0004	a0018c0084t0004g0124 a0018c0085t0004g0126 a0018c0086t0004g0125 a0018c0084t0004g0124 a0018c0085t0004g0126 a0018c0086t0004g0125	3	358	0.0084	0	c.187 others(4): Show c.1876A>T	p.Lys others(4): Show p.Lys626*	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	16/28	2068/5350	1876/3774	626/1257	chr7	TogoVar
ABCC10_chr6_43422541_43455427	43450080	G G	T T	stop_gained stop_gained	HIGH	NA19011.hp2 NA19011.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0004 a0011c0019t0004	a0011c0019t0004g0068 a0011c0019t0004g0068	1	340	0.0029	0	c.446 others(4): Show c.4468G>T	p.Gly others(5): Show p.Gly1490*	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding	22/22	4696/5043	4468/4479	1490/1492	chr6	TogoVar
ABCC12_chr16_48075882_48160993	48096870	C C	T T	stop_gained stop_gained	HIGH	HG01256.hp1 HG01256.hp1	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0001 a0019c0027t0001	a0019c0027t0001g0059 a0019c0027t0001g0059	1	132	0.0076	0	c.307 others(4): Show c.3071G>A	p.Trp others(5): Show p.Trp1024*	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	24/31	3543/7385	3071/4080	1024/1359	chr16	TogoVar
ABCC12_chr16_48075882_48160993	48111793	G G	A A	stop_gained stop_gained	HIGH	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0030 a0005c0030	a0005c0030t0001 a0005c0030t0001	a0005c0030t0001g0119 a0005c0030t0001g0119	1	132	0.0076	0	c.210 others(4): Show c.2107C>T	p.Arg others(4): Show p.Arg703*	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	16/31	2579/7385	2107/4080	703/1359	chr16	TogoVar
ABCC2_chr10_99777640_99857594	99792324	C C	T T	stop_gained stop_gained	HIGH	HG02273.hp2 HG02273.hp2	a0019 a0019	a0019c0041 a0019c0041	a0019c0041t0002 a0019c0041t0002	a0019c0041t0002g0073 a0019c0041t0002g0073	1	334	0.0030	0	c.298 others(3): Show c.298C>T	p.Arg others(4): Show p.Arg100*	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	3/32	503/5806	298/4638	100/1545	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50679825	C C	T T	stop_gained stop_gained	HIGH	HG00642.hp1 HG00642.hp1	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0001 a0007c0033t0001	a0007c0033t0001g0019 a0007c0033t0001g0019	1	340	0.0029	0	c.373 others(4): Show c.3733C>T	p.Arg others(5): Show p.Arg1245*	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	26/31	3789/5693	3733/4584	1245/1527	chr17	TogoVar
ABCC6_chr16_16144565_16228494	16214329	G G	A A	stop_gained stop_gained	HIGH	NA19000.hp2 NA19000.hp2	a0038 a0038	a0038c0079 a0038c0079	a0038c0079t0001 a0038c0079t0001	a0038c0079t0001g0238 a0038c0079t0001g0238	1	356	0.0028	0	c.595 others(3): Show c.595C>T	p.Gln others(4): Show p.Gln199*	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	5/31	655/5140	595/4512	199/1503	chr16	TogoVar
ABCC8_chr11_17387885_17481845	17398350	C C	A A	stop_gained stop_gained	HIGH	NA18987.hp2 NA18987.hp2	a0013 a0013	a0013c0066 a0013c0066	a0013c0066t0001 a0013c0066t0001	a0013c0066t0001g0174 a0013c0066t0001g0174	1	328	0.0030	0	c.374 others(4): Show c.3742G>T	p.Glu others(5): Show p.Glu1248*	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	30/39	3811/4921	3742/4746	1248/1581	chr11	TogoVar
ABCF3_chr3_184181199_184199005	184193121	C C	A A	stop_gained stop_gained	HIGH	NA18961.hp2 NA18961.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0027 a0007c0012t0001g0027	1	414	0.0024	0	c.177 others(4): Show c.1770C>A	p.Tyr others(4): Show p.Tyr590*	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	19/21	1779/2446	1770/2130	590/709	chr3	TogoVar
ABCF3_chr3_184181199_184199005	184193155	G G	T T	stop_gained stop_gained	HIGH	NA18961.hp2 NA18961.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0027 a0007c0012t0001g0027	1	414	0.0024	0	c.180 others(4): Show c.1804G>T	p.Glu others(4): Show p.Glu602*	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	19/21	1813/2446	1804/2130	602/709	chr3	TogoVar
ABCG2_chr4_88085269_88163639	88131805	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	NA18962.hp1 NA19003.hp2 NA19068.hp2 NA18962.hp1 NA19003.hp2 NA19068.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0239 a0004c0006t0001g0240 a0004c0006t0001g0314 a0004c0006t0001g0239 a0004c0006t0001g0240 a0004c0006t0001g0314	3	348	0.0086	0	c.376 others(3): Show c.376C>T	p.Gln others(4): Show p.Gln126*	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	4/16	649/4206	376/1968	126/655	chr4	TogoVar
ABHD14B_chr3_51963515_51979049	51971622	G G	A A	stop_gained stop_gained	HIGH	HG01243.hp2 HG02622.hp1 HG02717.hp1 others(7): Show HG01243.hp2 HG02622.hp1 HG02717.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0034 a0002c0002t0003g0043 a0002c0002t0003g0004 a0002c0002t0003g0034 a0002c0002t0003g0043	10	322	0.0311	0	c.49C others(2): Show c.49C>T	p.Gln others(3): Show p.Gln17*	ABHD14B	ENSG00000114779.20	transcript	ENST00000361143.10	protein_coding	2/4	162/1657	49/633	17/210	chr3	TogoVar
ABHD3_chr18_21645901_21709774	21656955	A A	C C	stop_gained stop_gained	HIGH	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0076 a0002c0004t0001g0076	1	302	0.0033	0	c.963 others(3): Show c.963T>G	p.Tyr others(4): Show p.Tyr321*	ABHD3	ENSG00000158201.10	transcript	ENST00000289119.7	protein_coding	8/9	1072/2029	963/1230	321/409	chr18	TogoVar
ABT1_chr6_26591953_26605739	26598400	G G	T T	stop_gained stop_gained	HIGH	NA19076.hp2 NA19076.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0001 a0005c0008t0001g0001	1	408	0.0025	0	c.574 others(3): Show c.574G>T	p.Gly others(4): Show p.Gly192*	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding	3/3	604/2943	574/819	192/272	chr6	TogoVar
ACACB_chr12_109111587_109273226	109245728	C C	T T	stop_gained stop_gained	HIGH	HG02559.hp2 HG02559.hp2	a0025 a0025	a0025c0066 a0025c0066	a0025c0066t0015 a0025c0066t0015	a0025c0066t0015g0115 a0025c0066t0015g0115	1	306	0.0033	0	c.528 others(4): Show c.5281C>T	p.Arg others(5): Show p.Arg1761*	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	38/53	5408/9368	5281/7377	1761/2458	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111692806	C C	T T	stop_gained stop_gained	HIGH	NA19009.hp2 NA19009.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0053 a0005c0016t0001g0053	1	334	0.0030	0	c.97C others(2): Show c.97C>T	p.Arg others(3): Show p.Arg33*	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	2/21	297/4006	97/3180	33/1059	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111755722	C C	T T	stop_gained stop_gained	HIGH	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0006 a0005c0009t0006	a0005c0009t0006g0198 a0005c0009t0006g0198	1	334	0.0030	0	c.301 others(4): Show c.3016C>T	p.Arg others(5): Show p.Arg1006*	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	20/21	3216/4006	3016/3180	1006/1059	chr12	TogoVar
ACBD5_chr10_27190214_27245797	27205232	G G	T T	stop_gained stop_gained	HIGH	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0291 a0007c0011t0001g0291	1	382	0.0026	0	c.142 others(4): Show c.1421C>A	p.Ser others(4): Show p.Ser474*	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	11/13	1530/3903	1421/1578	474/525	chr10	TogoVar
ACKR3_chr2_236564825_236587354	236580764	G G	A A	stop_gained stop_gained	HIGH	HG02015.hp2 HG02015.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0072 a0006c0014t0001g0072	1	392	0.0026	0	c.299 others(3): Show c.299G>A	p.Trp others(4): Show p.Trp100*	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding	2/2	425/2015	299/1089	100/362	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134859306	C C	T T	stop_gained stop_gained	HIGH	NA18962.hp2 NA19070.hp1 NA19084.hp2 NA18962.hp2 NA19070.hp1 NA19084.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0268 a0003c0003t0001g0021 a0003c0003t0001g0268	3	380	0.0079	0	c.148 others(3): Show c.148C>T	p.Arg others(3): Show p.Arg50*	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	3/10	215/1252	148/1011	50/336	chr2	TogoVar
ACOXL_chr2_110727573_111123548	111117802	G G	T T	stop_gained stop_gained	HIGH	HG00323.hp1 HG00323.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0073 a0009c0013t0001g0073	1	148	0.0068	0	c.172 others(4): Show c.1729G>T	p.Gly others(4): Show p.Gly577*	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	18/18	1953/2699	1729/1743	577/580	chr2	TogoVar
ACP5_chr19_11569660_11582645	11576760	G G	GCCAAGGT others(32): Show GCCAAGGTGGTATCATCTGCTCATTCCATCTCATCAATGT	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG03704.hp2 HG03704.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0049 a0009c0013t0002g0049	1	442	0.0023	39	c.344 others(46): Show c.344_345insACATTGATGAGATGGAATGAGCAGATGATACCACCTTG G	p.Gly others(52): Show p.Gly115_Asn116insHisTerTerAspGlyMetSerArgTerTyrHi sLeuGly	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	3/5	397/1381	344/978	115/325	chr19	TogoVar
ACSF3_chr16_89088852_89161233	89102626	G G	A A	stop_gained stop_gained	HIGH	NA18973.hp1 NA19067.hp1 NA18973.hp1 NA19067.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0275 a0007c0013t0001g0285 a0007c0013t0001g0275 a0007c0013t0001g0285	2	366	0.0055	0	c.689 others(3): Show c.689G>A	p.Trp others(4): Show p.Trp230*	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	4/11	1027/4095	689/1731	230/576	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20465549	G G	A A	stop_gained stop_gained	HIGH	NA19087.hp2 NA19087.hp2	a0021 a0021	a0021c0020 a0021c0020	a0021c0020t0003 a0021c0020t0003	a0021c0020t0003g0006 a0021c0020t0003g0006	1	434	0.0023	0	c.210 others(3): Show c.210G>A	p.Trp others(3): Show p.Trp70*	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	3/14	379/2894	210/1734	70/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20465682	C C	T T	stop_gained stop_gained	HIGH	HG00673.hp2 HG02071.hp1 HG02083.hp2 others(31): Show HG00673.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG03831.hp2 NA18942.hp2 NA18946.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18968.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18994.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19067.hp2 NA19068.hp1 NA19080.hp1 NA19082.hp1 NA19086.hp2 NA19091.hp2	a0006 a0006	a0006c0006 a0006c0016 a0006c0006 a0006c0016	a0006c0006t0002 a0006c0006t0003 a0006c0006t0009 others(2): Show a0006c0006t0002 a0006c0006t0003 a0006c0006t0009 a0006c0006t0019 a0006c0016t0002	a0006c0006t0002g0015 a0006c0006t0002g0040 a0006c0006t0002g0256 others(27): Show a0006c0006t0002g0015 a0006c0006t0002g0040 a0006c0006t0002g0256 a0006c0006t0002g0323 a0006c0006t0002g0328 a0006c0006t0002g0331 a0006c0006t0002g0332 a0006c0006t0002g0333 a0006c0006t0002g0335 a0006c0006t0002g0338 a0006c0006t0002g0339 a0006c0006t0002g0346 a0006c0006t0002g0347 a0006c0006t0002g0348 a0006c0006t0002g0349 a0006c0006t0002g0350 a0006c0006t0002g0351 a0006c0006t0002g0352 a0006c0006t0002g0353 a0006c0006t0003g0014 a0006c0006t0003g0039 a0006c0006t0003g0337 a0006c0006t0003g0344 a0006c0006t0003g0357 a0006c0006t0009g0330 a0006c0006t0009g0341 a0006c0006t0009g0358 a0006c0006t0019g0329 a0006c0016t0002g0343 a0006c0016t0002g0345	34	434	0.0783	0	c.343 others(3): Show c.343C>T	p.Arg others(4): Show p.Arg115*	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	3/14	512/2894	343/1734	115/577	chr16	TogoVar
ACSM3_chr16_20759014_20802581	20781066	G G	A A	stop_gained stop_gained	HIGH	HG02622.hp1 HG02965.hp2 HG03195.hp1 others(1): Show HG02622.hp1 HG02965.hp2 HG03195.hp1 HG03516.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0048 a0004c0005t0001g0182 a0004c0005t0001g0186 a0004c0005t0001g0048 a0004c0005t0001g0182 a0004c0005t0001g0186	4	354	0.0113	0	c.875 others(3): Show c.875G>A	p.Trp others(4): Show p.Trp292*	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	6/14	1038/2533	875/1761	292/586	chr16	TogoVar
ACSM3_chr16_20759014_20802581	20781759	C C	T T	stop_gained stop_gained	HIGH	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0002 a0004c0015t0001g0002	1	354	0.0028	0	c.991 others(3): Show c.991C>T	p.Arg others(4): Show p.Arg331*	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	7/14	1154/2533	991/1761	331/586	chr16	TogoVar
ACSM3_chr16_20759014_20802581	20790685	C C	G G	stop_gained stop_gained	HIGH	HG01358.hp2 HG01358.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0027 a0004c0013t0001g0027	1	354	0.0028	0	c.132 others(4): Show c.1323C>G	p.Tyr others(4): Show p.Tyr441*	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	10/14	1486/2533	1323/1761	441/586	chr16	TogoVar
ACSM4_chr12_7299072_7333719	7322485	C C	T T	stop_gained stop_gained	HIGH	HG01168.hp1 HG01243.hp1 HG02572.hp1 others(10): Show HG01168.hp1 HG01243.hp1 HG02572.hp1 HG02895.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp2 HG06807.hp1 NA18974.hp1 NA18987.hp1 NA19005.hp2 NA19064.hp1 NA19067.hp2	a0003 a0003	a0003c0004 a0003c0013 a0003c0004 a0003c0013	a0003c0004t0001 a0003c0013t0001 a0003c0004t0001 a0003c0013t0001	a0003c0004t0001g0013 a0003c0004t0001g0017 a0003c0004t0001g0050 others(2): Show a0003c0004t0001g0013 a0003c0004t0001g0017 a0003c0004t0001g0050 a0003c0004t0001g0052 a0003c0013t0001g0013	13	428	0.0304	0	c.106 others(4): Show c.1069C>T	p.Gln others(4): Show p.Gln357*	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	7/13	1329/2349	1069/1743	357/580	chr12	TogoVar
ACSM5_chr16_20404534_20446336	20440404	C C	T T	stop_gained stop_gained	HIGH	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	432	0.0023	0	c.171 others(4): Show c.1717C>T	p.Arg others(4): Show p.Arg573*	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	14/14	1864/2796	1717/1740	573/579	chr16	TogoVar
ACSM6_chr10_95189238_95233929	95211883	G G	A A	stop_gained stop_gained	HIGH	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0014 a0006c0008t0001g0014	1	312	0.0032	0	c.761 others(3): Show c.761G>A	p.Trp others(4): Show p.Trp254*	ACSM6	ENSG00000173124.15	transcript	ENST00000394005.4	protein_coding	6/11	848/1675	761/1443	254/480	chr10	TogoVar
ACTN2_chr1_236681499_236769631	236717903	C C	T T	stop_gained stop_gained	HIGH	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	0	c.172 others(3): Show c.172C>T	p.Gln others(3): Show p.Gln58*	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	347/4872	172/2685	58/894	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236717958	T T	A A	stop_gained stop_gained	HIGH	NA19063.hp2 NA19063.hp2	a0008 a0008	a0008c0033 a0008c0033	a0008c0033t0003 a0008c0033t0003	a0008c0033t0003g0167 a0008c0033t0003g0167	1	342	0.0029	0	c.227 others(3): Show c.227T>A	p.Leu others(3): Show p.Leu76*	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	2/21	402/4872	227/2685	76/894	chr1	TogoVar
ACTN3_chr11_66541903_66568334	66560624	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19070.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2	a0002 a0013 a0014 others(1): Show a0002 a0013 a0014 a0019	a0002c0002 a0002c0008 a0002c0011 others(7): Show a0002c0002 a0002c0008 a0002c0011 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0013c0016 a0014c0029 a0019c0028	a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 others(8): Show a0002c0002t0001 a0002c0002t0003 a0002c0008t0001 a0002c0011t0001 a0002c0024t0001 a0002c0025t0001 a0002c0026t0001 a0002c0027t0001 a0013c0016t0001 a0014c0029t0001 a0019c0028t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 others(55): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0057 a0002c0002t0001g0069 a0002c0002t0001g0075 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0095 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0111 a0002c0002t0001g0121 a0002c0002t0001g0140 a0002c0002t0003g0039 a0002c0008t0001g0041 a0002c0008t0001g0100 a0002c0011t0001g0001 a0002c0011t0001g0012 a0002c0024t0001g0093 a0002c0025t0001g0004 a0002c0026t0001g0109 a0002c0027t0001g0001 a0013c0016t0001g0001 a0014c0029t0001g0036 a0019c0028t0001g0001	150	398	0.3769	0	c.172 others(4): Show c.1729C>T	p.Arg others(4): Show p.Arg577*	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	15/21	1764/2882	1729/2706	577/901	chr11	TogoVar
ACTN3_chr11_66541903_66568334	66563053	G G	T T	stop_gained stop_gained	HIGH	HG02615.hp1 HG02647.hp2 HG02615.hp1 HG02647.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0165 a0009c0009t0001g0166 a0009c0009t0001g0165 a0009c0009t0001g0166	2	398	0.0050	0	c.256 others(4): Show c.2566G>T	p.Glu others(4): Show p.Glu856*	ACTN3	ENSG00000248746.6	transcript	ENST00000513398.2	protein_coding	21/21	2601/2882	2566/2706	856/901	chr11	TogoVar

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