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	status	chr	external
C1QTNF12_chr1_1237453_1251722	1243468	G G	A A	stop_gained stop_gained	HIGH	NA19043.hp1 NA19043.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0082 a0013c0017t0001g0082	1	326	0.0031	0	c.616 others(3): Show c.616C>T	p.Gln others(4): Show p.Gln206*	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	5/8	648/1036	616/909	206/302		chr1	TogoVar
C1QTNF9_chr13_24304580_24327531	24318877	C C	T T	stop_gained stop_gained	HIGH	NA18974.hp1 NA18985.hp2 NA18989.hp1 others(2): Show NA18974.hp1 NA18985.hp2 NA18989.hp1 NA19068.hp2 NA19082.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0002 a0009c0009t0001g0034 a0009c0009t0001g0184 a0009c0009t0001g0002 a0009c0009t0001g0034 a0009c0009t0001g0184	5	464	0.0108	0	c.226 others(3): Show c.226C>T	p.Arg others(3): Show p.Arg76*	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding	3/4	285/1824	226/1002	76/333		chr13	TogoVar
C1orf127_chr1_10941475_10987076	10966393	G G	A A	stop_gained stop_gained	HIGH	NA19079.hp2 NA19079.hp2	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0001 a0015c0025t0001	a0015c0025t0001g0280 a0015c0025t0001g0280	1	390	0.0026	0	c.337 others(3): Show c.337C>T	p.Arg others(4): Show p.Arg113*	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding	4/13	376/2798	337/2472	113/823		chr1	TogoVar
C1orf167_chr1_11757193_11794585	11769006	C C	T T	stop_gained stop_gained	HIGH	HG02615.hp2 HG02615.hp2	a0037 a0037	a0037c0060 a0037c0060	a0037c0060t0003 a0037c0060t0003	a0037c0060t0003g0113 a0037c0060t0003g0113	1	348	0.0029	0	c.157 others(4): Show c.1576C>T	p.Gln others(4): Show p.Gln526*	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding	6/21	1759/4672	1576/4350	526/1449		chr1	TogoVar
C1orf167_chr1_11757193_11794585	11784232	C C	T T	stop_gained stop_gained	HIGH	NA18951.hp2 NA18951.hp2	a0011 a0011	a0011c0064 a0011c0064	a0011c0064t0001 a0011c0064t0001	a0011c0064t0001g0170 a0011c0064t0001g0170	1	348	0.0029	0	c.306 others(4): Show c.3064C>T	p.Gln others(5): Show p.Gln1022*	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding	15/21	3247/4672	3064/4350	1022/1449		chr1	TogoVar
C1orf167_chr1_11757193_11794585	11784463	C C	T T	stop_gained stop_gained	HIGH	HG01069.hp1 HG01071.hp1 NA20752.hp2 HG01069.hp1 HG01071.hp1 NA20752.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0056 a0011c0020t0001g0081 a0011c0020t0001g0082 a0011c0020t0001g0056 a0011c0020t0001g0081 a0011c0020t0001g0082	3	348	0.0086	0	c.329 others(4): Show c.3295C>T	p.Gln others(5): Show p.Gln1099*	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding	15/21	3478/4672	3295/4350	1099/1449		chr1	TogoVar
C1orf87_chr1_59985394_60078770	59990819	C C	A A	stop_gained stop_gained	HIGH	HG02145.hp1 HG02145.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0006 a0012c0020t0006	a0012c0020t0006g0218 a0012c0020t0006g0218	1	380	0.0026	0	c.149 others(4): Show c.1495G>T	p.Glu others(4): Show p.Glu499*	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	12/12	1603/2028	1495/1641	499/546		chr1	TogoVar
C2CD3_chr11_74007718_74176002	74092563	G G	A A	stop_gained stop_gained	HIGH	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0025 a0015c0019t0001g0028 a0015c0019t0001g0025 a0015c0019t0001g0028	2	316	0.0063	0	c.337 others(4): Show c.3370C>T	p.Gln others(5): Show p.Gln1124*	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	19/33	3580/7939	3370/7062	1124/2353		chr11	TogoVar
C2CD6_chr2_201482421_201624178	201487740	G G	A A	stop_gained stop_gained	HIGH	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0122 a0007c0012t0001g0123 a0007c0012t0001g0122 a0007c0012t0001g0123	2	268	0.0075	0	c.533 others(4): Show c.5335C>T	p.Arg others(5): Show p.Arg1779*	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	16/16	5383/5702	5335/5463	1779/1820		chr2	TogoVar
C2CD6_chr2_201482421_201624178	201492412	G G	T T	stop_gained stop_gained	HIGH	NA18941.hp2 NA18941.hp2	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0001 a0007c0022t0001	a0007c0022t0001g0107 a0007c0022t0001g0107	1	268	0.0037	0	c.392 others(4): Show c.3929C>A	p.Ser others(5): Show p.Ser1310*	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	15/16	3977/5702	3929/5463	1310/1820		chr2	TogoVar
C2orf16_chr2_27532386_27587722	27580001	T T	A A	stop_gained stop_gained	HIGH	NA18970.hp1 NA18970.hp1	a0046 a0046	a0046c0047 a0046c0047	a0046c0047t0001 a0046c0047t0001	a0046c0047t0001g0149 a0046c0047t0001g0149	1	324	0.0031	0	c.136 others(5): Show c.13641T>A	p.Tyr others(5): Show p.Tyr4547*	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	5/5	13682/16403	13641/16167	4547/5388		chr2	TogoVar
C2orf69_chr2_199906293_199933273	199911443	G G	A A	stop_gained stop_gained	HIGH	HG01168.hp2 HG01168.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0060 a0006c0006t0001g0060	1	410	0.0024	0	c.5G> others(1): Show c.5G>A	p.Trp others(2): Show p.Trp2*	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/2	151/3691	5/1158	2/385		chr2	TogoVar
C2orf80_chr2_208160347_208195030	208182998	G G	T T	stop_gained stop_gained	HIGH	NA18939.hp2 NA19056.hp1 NA18939.hp2 NA19056.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0072 a0006c0005t0002g0073 a0006c0005t0002g0072 a0006c0005t0002g0073	2	340	0.0059	0	c.173 others(3): Show c.173C>A	p.Ser others(3): Show p.Ser58*	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	4/9	326/1195	173/582	58/193		chr2	TogoVar
C2orf81_chr2_74409177_74426619	74415340	G G	T T	stop_gained stop_gained	HIGH	NA19081.hp2 NA19081.hp2	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0001 a0012c0007t0001	a0012c0007t0001g0071 a0012c0007t0001g0071	1	400	0.0025	0	c.837 others(3): Show c.837C>A	p.Tyr others(4): Show p.Tyr279*	C2orf81	ENSG00000284308.2	transcript	ENST00000684111.1	protein_coding	3/3	896/2059	837/1848	279/615		chr2	TogoVar
C3orf20_chr3_14670141_14778036	14704392	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp1	a0013 a0013	a0013c0031 a0013c0031	a0013c0031t0001 a0013c0031t0001	a0013c0031t0001g0359 a0013c0031t0001g0359	1	378	0.0026	0	c.934 others(3): Show c.934C>T	p.Arg others(4): Show p.Arg312*	C3orf20	ENSG00000131379.10	transcript	ENST00000253697.8	protein_coding	7/17	1344/3286	934/2715	312/904		chr3	TogoVar
C3orf49_chr3_63814299_63853636	63819538	C C	T T	stop_gained stop_gained	HIGH	HG02055.hp2 HG02809.hp1 HG02965.hp1 others(5): Show HG02055.hp2 HG02809.hp1 HG02965.hp1 HG02976.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0010 a0004c0004t0001g0048 a0004c0004t0001g0049 a0004c0004t0001g0010 a0004c0004t0001g0048 a0004c0004t0001g0049	8	386	0.0207	0	c.67C others(2): Show c.67C>T	p.Arg others(3): Show p.Arg23*	C3orf49	ENSG00000163632.15	transcript	ENST00000295896.13	protein_coding	1/7	240/1355	67/879	23/292		chr3	TogoVar
C3orf49_chr3_63814299_63853636	63827648	C C	T T	stop_gained stop_gained	HIGH	NA19001.hp1 NA19001.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0002 a0004c0006t0001g0002	1	386	0.0026	0	c.493 others(3): Show c.493C>T	p.Gln others(4): Show p.Gln165*	C3orf49	ENSG00000163632.15	transcript	ENST00000295896.13	protein_coding	3/7	666/1355	493/879	165/292		chr3	TogoVar
C4orf33_chr4_129091152_129121637	129109608	C C	T T	stop_gained stop_gained	HIGH	HG02055.hp1 HG02451.hp2 HG02559.hp1 others(6): Show HG02055.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp1 HG03471.hp2 NA18906.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0022 a0005c0005t0030 others(2): Show a0005c0005t0004 a0005c0005t0022 a0005c0005t0030 a0005c0005t0031 a0005c0005t0032	a0005c0005t0004g0004 a0005c0005t0004g0102 a0005c0005t0004g0108 others(4): Show a0005c0005t0004g0004 a0005c0005t0004g0102 a0005c0005t0004g0108 a0005c0005t0022g0004 a0005c0005t0030g0004 a0005c0005t0031g0004 a0005c0005t0032g0004	9	394	0.0228	0	c.430 others(3): Show c.430C>T	p.Arg others(4): Show p.Arg144*	C4orf33	ENSG00000151470.13	transcript	ENST00000425929.6	protein_coding	5/6	497/5513	430/600	144/199		chr4	TogoVar
C4orf54_chr4_99631529_99662828	99653733	C C	A A	stop_gained stop_gained	HIGH	HG00642.hp1 HG00642.hp1	a0018 a0018	a0018c0043 a0018c0043	a0018c0043t0001 a0018c0043t0001	a0018c0043t0001g0161 a0018c0043t0001g0161	1	390	0.0026	0	c.916 others(3): Show c.916G>T	p.Glu others(4): Show p.Glu306*	C4orf54	ENSG00000248713.2	transcript	ENST00000511828.2	protein_coding	2/3	1281/10451	916/5382	306/1793		chr4	TogoVar
C7_chr5_40904497_40989643	40955497	C C	T T	stop_gained stop_gained	HIGH	HG01261.hp2 HG01261.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0089 a0016c0019t0001g0089	1	378	0.0026	0	c.120 others(4): Show c.1204C>T	p.Arg others(4): Show p.Arg402*	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	10/18	1318/5716	1204/2532	402/843		chr5	TogoVar
C7orf31_chr7_25129692_25185354	25136736	G G	A A	stop_gained stop_gained	HIGH	HG02976.hp1 HG02976.hp1	a0023 a0023	a0023c0033 a0023c0033	a0023c0033t0002 a0023c0033t0002	a0023c0033t0002g0081 a0023c0033t0002g0081	1	414	0.0024	0	c.100 others(4): Show c.1009C>T	p.Arg others(4): Show p.Arg337*	C7orf31	ENSG00000153790.12	transcript	ENST00000283905.8	protein_coding	10/10	1726/3770	1009/1773	337/590		chr7	TogoVar
C8orf34_chr8_68325955_68824023	68331151	C C	T T	stop_gained stop_gained	HIGH	HG03195.hp2 NA20300.hp1 HG03195.hp2 NA20300.hp1	a0004 a0004	a0004c0017 a0004c0018 a0004c0017 a0004c0018	a0004c0017t0006 a0004c0018t0007 a0004c0017t0006 a0004c0018t0007	a0004c0017t0006g0128 a0004c0018t0007g0126 a0004c0017t0006g0128 a0004c0018t0007g0126	2	126	0.0159	0	c.139 others(3): Show c.139C>T	p.Gln others(3): Show p.Gln47*	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/14	197/2452	139/1617	47/538		chr8	TogoVar
C8orf48_chr8_13561869_13573288	13567295	C C	T T	stop_gained stop_gained	HIGH	HG02280.hp2 HG02280.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0011 a0011c0015t0011	a0011c0015t0011g0000 a0011c0015t0011g0000	1	450	0.0022	0	c.304 others(3): Show c.304C>T	p.Gln others(4): Show p.Gln102*	C8orf48	ENSG00000164743.5	transcript	ENST00000297324.5	protein_coding	1/1	427/1420	304/960	102/319		chr8	TogoVar
C9_chr5_39279140_39369495	39331711	G G	A A	stop_gained stop_gained	HIGH	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0002 a0005c0017t0002	a0005c0017t0002g0229 a0005c0017t0002g0229	1	392	0.0026	0	c.580 others(3): Show c.580C>T	p.Arg others(4): Show p.Arg194*	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	5/11	611/2770	580/1680	194/559		chr5	TogoVar
C9_chr5_39279140_39369495	39341276	G G	A A	stop_gained stop_gained	HIGH	HG02056.hp2 NA18966.hp2 NA18968.hp2 others(1): Show HG02056.hp2 NA18966.hp2 NA18968.hp2 NA18993.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0013 a0005c0007t0001g0168 a0005c0007t0001g0233 a0005c0007t0001g0013 a0005c0007t0001g0168 a0005c0007t0001g0233	4	392	0.0102	0	c.346 others(3): Show c.346C>T	p.Arg others(4): Show p.Arg116*	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	4/11	377/2770	346/1680	116/559		chr5	TogoVar
C9orf131_chr9_35037240_35050986	35045696	C C	T T	stop_gained stop_gained	HIGH	HG00544.hp1 HG00544.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0001 a0010c0017t0001g0001	1	420	0.0024	0	c.306 others(4): Show c.3067C>T	p.Arg others(5): Show p.Arg1023*	C9orf131	ENSG00000174038.13	transcript	ENST00000312292.6	protein_coding	2/2	3082/3372	3067/3240	1023/1079		chr9	TogoVar
CA14_chr1_150252774_150270078	150263368	C C	T T	stop_gained stop_gained	HIGH	HG02698.hp1 HG02698.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0003 a0004c0011t0001g0003	1	414	0.0024	0	c.790 others(3): Show c.790C>T	p.Arg others(4): Show p.Arg264*	CA14	ENSG00000118298.12	transcript	ENST00000369111.9	protein_coding	8/11	1145/1788	790/1014	264/337		chr1	TogoVar
CAAP1_chr9_26835685_26897802	26842378	C C	A A	stop_gained stop_gained	HIGH	HG04199.hp2 HG04199.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0140 a0007c0009t0001g0140	1	370	0.0027	0	c.100 others(4): Show c.1009G>T	p.Glu others(4): Show p.Glu337*	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	6/6	1096/2789	1009/1086	337/361		chr9	TogoVar
CAAP1_chr9_26835685_26897802	26842384	G G	A A	stop_gained stop_gained	HIGH	HG04199.hp2 HG04199.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0140 a0007c0009t0001g0140	1	370	0.0027	0	c.100 others(4): Show c.1003C>T	p.Gln others(4): Show p.Gln335*	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	6/6	1090/2789	1003/1086	335/361		chr9	TogoVar
CAAP1_chr9_26835685_26897802	26842459	C C	A A	stop_gained stop_gained	HIGH	HG04199.hp2 HG04199.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0140 a0007c0009t0001g0140	1	370	0.0027	0	c.928 others(3): Show c.928G>T	p.Glu others(4): Show p.Glu310*	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	6/6	1015/2789	928/1086	310/361		chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13308417	T T	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG02647.hp1 HG02647.hp1	a0032 a0032	a0032c0113 a0032c0113	a0032c0113t0003 a0032c0113t0003	a0032c0113t0003g0096 a0032c0113t0003g0096	1	216	0.0046	0	c.178 others(4): Show c.1780A>T	p.Lys others(4): Show p.Lys594*	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	13/47	2035/8647	1780/7521	594/2506		chr19	TogoVar
CACNB2_chr10_18135424_18548557	18533990	C C	CTCACCTT others(84): Show CTCACCTTTCTGTTGAAGAAACAGTATACCATTTTACTTTATCTTAAAAA TACTGCACTTTAACTGAATTGTTTCGCCCTTTACAGCGGAAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	200	0.0050	91	c.105 others(103): Show c.1055-84_1061dupCACCTTTCTGTTGAAGAAACAGTATACCATTTT ACTTTATCTTAAAAATACTGCACTTTAACTGAATTGTTTCGCCCTTTACA GCGGAAGT	p.Gln others(5): Show p.Gln355fs	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	11/14	1375/6129	1062/1983	354/660	INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18533990	C C	CTCACCTT others(84): Show CTCACCTTTCTGTTGAAGAAACAGTATACCATTTTACTTTATCTTAAAAA TACTGCACTTTAACTGAATTGTTTCGCCCTTTACAGCGGAAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0026 a0001c0001t0010g0026	1	300	0.0033	91	c.893 others(101): Show c.893-84_899dupCACCTTTCTGTTGAAGAAACAGTATACCATTTTAC TTTATCTTAAAAATACTGCACTTTAACTGAATTGTTTCGCCCTTTACAGC GGAAGT	p.Gln others(5): Show p.Gln301fs	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	10/13	1118/5872	900/1821	300/606	INFO_REALIGN_3_PRIME	chr10	TogoVar
CALHM2_chr10_103441786_103457370	103447218	C C	T T	stop_gained stop_gained	HIGH	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0071 a0003c0007t0002g0071	1	456	0.0022	0	c.906 others(3): Show c.906G>A	p.Trp others(4): Show p.Trp302*	CALHM2	ENSG00000138172.11	transcript	ENST00000260743.10	protein_coding	4/4	1482/1914	906/972	302/323		chr10	TogoVar
CALHM6_chr6_116456375_116468771	116462154	G G	A A	stop_gained stop_gained	HIGH	NA18945.hp2 NA18975.hp2 NA19005.hp2 others(1): Show NA18945.hp2 NA18975.hp2 NA19005.hp2 NA19070.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0001 a0009c0009t0001g0001	4	438	0.0091	0	c.225 others(3): Show c.225G>A	p.Trp others(3): Show p.Trp75*	CALHM6	ENSG00000188820.13	transcript	ENST00000368605.3	protein_coding	2/3	338/1127	225/948	75/315		chr6	TogoVar
CAMK2A_chr5_150214491_150294773	150273110	C C	A A	stop_gained stop_gained	HIGH	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0014	a0001c0007t0014g0235 a0001c0007t0014g0235	1	336	0.0030	0	c.112 others(3): Show c.112G>T	p.Glu others(3): Show p.Glu38*	CAMK2A	ENSG00000070808.17	transcript	ENST00000671881.1	protein_coding	2/19	260/4837	112/1470	38/489		chr5	TogoVar
CAND1_chr12_67264358_67324953	67292641	A A	T T	stop_gained stop_gained	HIGH	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0180 a0003c0006t0002g0180	1	326	0.0031	0	c.232 others(3): Show c.232A>T	p.Lys others(3): Show p.Lys78*	CAND1	ENSG00000111530.13	transcript	ENST00000545606.6	protein_coding	3/15	592/11176	232/3693	78/1230		chr12	TogoVar
CAPN11_chr6_44153820_44189401	44169963	C C	T T	stop_gained stop_gained	HIGH	HG02280.hp2 HG02559.hp1 HG03486.hp2 others(1): Show HG02280.hp2 HG02559.hp1 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	4	458	0.0087	0	c.397 others(3): Show c.397C>T	p.Gln others(4): Show p.Gln133*	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	4/23	426/2718	397/2220	133/739		chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735396	G G	A A	stop_gained stop_gained	HIGH	HG03579.hp1 HG03579.hp1	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0001 a0017c0022t0001	a0017c0022t0001g0228 a0017c0022t0001g0228	1	339	0.0029	0	c.166 others(4): Show c.1660C>T	p.Gln others(4): Show p.Gln554*	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	14/21	1969/3129	1660/2160	554/719		chr19	TogoVar
CAPN9_chr1_230742388_230806989	230759556	C C	T T	stop_gained stop_gained	HIGH	HG00673.hp2 HG00673.hp2	a0014 a0014	a0014c0034 a0014c0034	a0014c0034t0001 a0014c0034t0001	a0014c0034t0001g0235 a0014c0034t0001g0235	1	392	0.0026	0	c.328 others(3): Show c.328C>T	p.Gln others(4): Show p.Gln110*	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	3/20	437/2575	328/2073	110/690		chr1	TogoVar
CAPRIN2_chr12_30704553_30759951	30735018	G G	T T	stop_gained stop_gained	HIGH	NA19006.hp2 NA19006.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0115 a0010c0018t0001g0115	1	376	0.0027	0	c.516 others(3): Show c.516C>A	p.Tyr others(4): Show p.Tyr172*	CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	5/19	756/3727	516/3138	172/1045		chr12	TogoVar
CAPRIN2_chr12_30704553_30759951	30735188	T T	A A	stop_gained stop_gained	HIGH	NA19006.hp2 NA19006.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0115 a0010c0018t0001g0115	1	376	0.0027	0	c.346 others(3): Show c.346A>T	p.Lys others(4): Show p.Lys116*	CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	5/19	586/3727	346/3138	116/1045		chr12	TogoVar
CARD18_chr11_105132714_105144769	105138962	T T	A A	stop_gained stop_gained	HIGH	HG03669.hp2 HG03710.hp1 HG03669.hp2 HG03710.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0014 a0002c0005t0001g0014	2	430	0.0047	0	c.124 others(3): Show c.124A>T	p.Lys others(3): Show p.Lys42*	CARD18	ENSG00000255501.3	transcript	ENST00000530950.2	protein_coding	2/3	167/702	124/273	42/90		chr11	TogoVar
CARD8_chr19_48203086_48260912	48232468	C C	A A	stop_gained stop_gained	HIGH	NA18971.hp2 NA18971.hp2	a0012 a0012	a0012c0026 a0012c0026	a0012c0026t0002 a0012c0026t0002	a0012c0026t0002g0204 a0012c0026t0002g0204	1	360	0.0028	0	c.376 others(3): Show c.376G>T	p.Glu others(4): Show p.Glu126*	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	7/14	748/5610	376/1614	126/537		chr19	TogoVar
CASQ1_chr1_160185575_160206886	160199905	G G	T T	stop_gained stop_gained	HIGH	NA19079.hp2 NA19079.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0003 a0009c0011t0001g0003	1	438	0.0023	0	c.103 others(4): Show c.1039G>T	p.Gly others(4): Show p.Gly347*	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding	10/11	1216/1878	1039/1191	347/396		chr1	TogoVar
CATSPERB_chr14_91575698_91737086	91610670	G G	GTTGAACC others(188): Show GTTGAACCCTGGAAATAACCAAATAAATGAAGGTTATTTAAAGTAACTGT TATGGACTGAACTGTGTCCAACCAAAAATCACATGTTGAAACCCCAACCT CCAGTATCTCAAAATGTGGCTGTATTTGGAGATAGGGCCTTTAAGGAGGT AATTAAGGTAAAATGAGGTCATTTGGGTGGGCCCCAATCCAGTGTC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG01081.hp2 HG01081.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0048 a0004c0008t0001g0048	1	270	0.0037	195	c.240 others(208): Show c.2401-188_2407dupGACACTGGATTGGGGCCCACCCAAATGACCTC ATTTTACCTTAATTACCTCCTTAAAGGCCCTATCTCCAAATACAGCCACA TTTTGAGATACTGGAGGTTGGGGTTTCAACATGTGATTTTTGGTTGGACA CAGTTCAGTCCATAACAGTTACTTTAAATAACCTTCATTTATTTGGTTAT TTCCAGGGTTCAA	p.Ser others(208): Show p.Ser802_Thr803insArgHisTrpIleGlyAlaHisProAsnAspLe uIleLeuProTerLeuProProTerArgProTyrLeuGlnIleGlnProH isPheGluIleLeuGluValGlyValSerThrCysAspPheTrpLeuAsp ThrValGlnSerIleThrValThrLeuAsnAsnLeuHisLeuPheGlyTy rPheGlnGlySer	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	21/27	2564/3699	2407/3351	803/1116		chr14	TogoVar
CAVIN2_chr2_191829310_191852088	191846685	G G	A A	stop_gained stop_gained	HIGH	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0109 a0004c0013t0002g0109	1	380	0.0026	0	c.241 others(3): Show c.241C>T	p.Gln others(3): Show p.Gln81*	CAVIN2	ENSG00000168497.5	transcript	ENST00000304141.5	protein_coding	1/2	404/3054	241/1278	81/425		chr2	TogoVar
CAVIN3_chr11_6313946_6325501	6320408	C C	CTCAAAAA others(3): Show CTCAAAAAAGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01243.hp2 HG01243.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0016 a0008c0011t0001g0016	1	424	0.0024	10	c.68_ others(15): Show c.68_69insCCTTTTTTGA	p.Thr others(4): Show p.Thr24fs	CAVIN3	ENSG00000170955.10	transcript	ENST00000303927.4	protein_coding	1/2	93/1028	68/786	23/261		chr11	TogoVar
CAVIN3_chr11_6313946_6325501	6320440	C C	A A	stop_gained stop_gained	HIGH	HG01243.hp2 HG01243.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0016 a0008c0011t0001g0016	1	424	0.0024	0	c.37G others(2): Show c.37G>T	p.Glu others(3): Show p.Glu13*	CAVIN3	ENSG00000170955.10	transcript	ENST00000303927.4	protein_coding	1/2	62/1028	37/786	13/261		chr11	TogoVar
CBLC_chr19_44772890_44805652	44777954	G G	A A	stop_gained stop_gained	HIGH	HG03098.hp2 HG03098.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0016 a0011c0013t0001g0016	1	342	0.0029	0	c.23G others(2): Show c.23G>A	p.Trp others(2): Show p.Trp8*	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	1/11	65/1576	23/1425	8/474		chr19	TogoVar

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