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
CBS_chr21_43048191_43080835	43063074	A A	ATGATCTG others(61): Show ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCA CCTGGATGATCCACCCCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp2 HG00280.hp2 HG01081.hp1 others(37): Show HG00099.hp2 HG00280.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG02055.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG03834.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0008c0015 a0002c0003 a0008c0015	a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 others(2): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0008c0015t0012	a0002c0003t0001g0109 a0002c0003t0001g0173 a0002c0003t0003g0118 others(26): Show a0002c0003t0001g0109 a0002c0003t0001g0173 a0002c0003t0003g0118 a0002c0003t0004g0010 a0002c0003t0004g0011 a0002c0003t0004g0017 a0002c0003t0004g0032 a0002c0003t0004g0033 a0002c0003t0004g0037 a0002c0003t0004g0105 a0002c0003t0004g0106 a0002c0003t0004g0107 a0002c0003t0004g0108 a0002c0003t0004g0110 a0002c0003t0004g0112 a0002c0003t0004g0113 a0002c0003t0004g0114 a0002c0003t0004g0116 a0002c0003t0004g0117 a0002c0003t0004g0119 a0002c0003t0004g0162 a0002c0003t0004g0163 a0002c0003t0004g0164 a0002c0003t0004g0177 a0002c0003t0006g0016 a0002c0003t0006g0136 a0002c0003t0006g0158 a0002c0003t0006g0159 a0008c0015t0012g0156	40	297	0.1347	68	c.832 others(75): Show c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTT GAGCCCTGAAGCCGCGCCCTCTGCAGATCA	p.Ile others(5): Show p.Ile278fs	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	10/17	982/2495	832/1656	278/551	chr21	TogoVar
CBS_chr21_43048191_43080835	43063074	A A	ATGATCTG others(61): Show ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCA CCTGGGTGATCCACCCCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0042 a0002c0010t0001g0042	1	258	0.0039	68	c.832 others(75): Show c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTT GAGCCCTGAAGCCGCGCCCTCTGCAGATCA	p.Ile others(5): Show p.Ile278fs	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	10/17	982/2495	832/1656	278/551	chr21	TogoVar
CBY2_chr13_45697320_45719559	45713238	C C	A A	stop_gained stop_gained	HIGH	HG01070.hp1 HG01175.hp1 HG01243.hp2 others(19): Show HG01070.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp2 HG03453.hp2 HG03516.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0013 a0003c0004 a0003c0013	a0003c0004t0001 a0003c0004t0002 a0003c0013t0001 a0003c0004t0001 a0003c0004t0002 a0003c0013t0001	a0003c0004t0001g0005 a0003c0004t0001g0016 a0003c0004t0001g0034 others(6): Show a0003c0004t0001g0005 a0003c0004t0001g0016 a0003c0004t0001g0034 a0003c0004t0001g0046 a0003c0004t0001g0079 a0003c0004t0002g0008 a0003c0004t0002g0092 a0003c0004t0002g0093 a0003c0013t0001g0005	22	437	0.0503	0	c.213 others(3): Show c.213C>A	p.Cys others(3): Show p.Cys71*	CBY2	ENSG00000174015.10	transcript	ENST00000310521.6	protein_coding	3/3	284/1605	213/1347	71/448	chr13	TogoVar
CBY2_chr13_45697320_45719559	45713882	C C	A A	stop_gained stop_gained	HIGH	HG00140.hp2 HG00597.hp2 HG01928.hp1 others(33): Show HG00140.hp2 HG00597.hp2 HG01928.hp1 HG01943.hp2 HG02074.hp2 HG02148.hp2 HG02155.hp2 HG02300.hp2 HG02602.hp1 HG04184.hp1 HG04228.hp1 NA18952.hp1 NA18957.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18991.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19011.hp1 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA20129.hp2 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0015 a0003c0019 a0003c0003 a0003c0015 a0003c0019	a0003c0003t0001 a0003c0015t0001 a0003c0019t0001 a0003c0003t0001 a0003c0015t0001 a0003c0019t0001	a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0007 others(6): Show a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0007 a0003c0003t0001g0011 a0003c0003t0001g0056 a0003c0003t0001g0082 a0003c0003t0001g0102 a0003c0015t0001g0003 a0003c0019t0001g0003	36	438	0.0822	0	c.857 others(3): Show c.857C>A	p.Ser others(4): Show p.Ser286*	CBY2	ENSG00000174015.10	transcript	ENST00000310521.6	protein_coding	3/3	928/1605	857/1347	286/448	chr13	TogoVar
CC2D1A_chr19_13901201_13935879	13919913	G G	T T	stop_gained stop_gained	HIGH	NA18940.hp2 NA18940.hp2	a0021 a0021	a0021c0029 a0021c0029	a0021c0029t0001 a0021c0029t0001	a0021c0029t0001g0050 a0021c0029t0001g0050	1	368	0.0027	0	c.131 others(4): Show c.1318G>T	p.Glu others(4): Show p.Glu440*	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	12/29	1559/3581	1318/2856	440/951	chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13919922	G G	T T	stop_gained stop_gained	HIGH	NA18940.hp2 NA18940.hp2	a0021 a0021	a0021c0029 a0021c0029	a0021c0029t0001 a0021c0029t0001	a0021c0029t0001g0050 a0021c0029t0001g0050	1	368	0.0027	0	c.132 others(4): Show c.1327G>T	p.Glu others(4): Show p.Glu443*	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	12/29	1568/3581	1327/2856	443/951	chr19	TogoVar
CC2D1A_chr19_13901201_13935879	13927986	G G	T T	stop_gained stop_gained	HIGH	NA18940.hp1 NA18940.hp1	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0001 a0020c0021t0001	a0020c0021t0001g0059 a0020c0021t0001g0059	1	368	0.0027	0	c.241 others(4): Show c.2410G>T	p.Glu others(4): Show p.Glu804*	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	23/29	2651/3581	2410/2856	804/951	chr19	TogoVar
CC2D1B_chr1_52345597_52371205	52357066	G G	A A	stop_gained stop_gained	HIGH	HG01928.hp1 HG01928.hp1	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0002 a0008c0021t0002	a0008c0021t0002g0070 a0008c0021t0002g0070	1	320	0.0031	0	c.181 others(4): Show c.1813C>T	p.Arg others(4): Show p.Arg605*	CC2D1B	ENSG00000154222.15	transcript	ENST00000284376.8	protein_coding	16/25	1964/5338	1813/2559	605/852	chr1	TogoVar
CC2D2B_chr10_95902975_96038745	96027276	C C	T T	stop_gained stop_gained	HIGH	HG02040.hp1 NA18953.hp1 HG02040.hp1 NA18953.hp1	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0001 a0014c0017t0001	a0014c0017t0001g0205 a0014c0017t0001g0217 a0014c0017t0001g0205 a0014c0017t0001g0217	2	310	0.0065	0	c.401 others(4): Show c.4012C>T	p.Arg others(5): Show p.Arg1338*	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	34/35	4118/6157	4012/4314	1338/1437	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	96031997	C C	T T	stop_gained stop_gained	HIGH	HG00438.hp1 NA19063.hp1 HG00438.hp1 NA19063.hp1	a0016 a0032 a0016 a0032	a0016c0034 a0032c0031 a0016c0034 a0032c0031	a0016c0034t0001 a0032c0031t0001 a0016c0034t0001 a0032c0031t0001	a0016c0034t0001g0255 a0032c0031t0001g0122 a0016c0034t0001g0255 a0032c0031t0001g0122	2	310	0.0065	0	c.430 others(4): Show c.4303C>T	p.Gln others(5): Show p.Gln1435*	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	35/35	4409/6157	4303/4314	1435/1437	chr10	TogoVar
CCDC102A_chr16_57507181_57541571	57525926	G G	A A	stop_gained stop_gained	HIGH	NA19055.hp1 NA19055.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0018 a0010c0019t0018	a0010c0019t0018g0198 a0010c0019t0018g0198	1	414	0.0024	0	c.787 others(3): Show c.787C>T	p.Gln others(4): Show p.Gln263*	CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding	3/9	1006/2432	787/1653	263/550	chr16	TogoVar
CCDC110_chr4_185440182_185476733	185458975	G G	A A	stop_gained stop_gained	HIGH	HG00639.hp2 HG00639.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0107 a0008c0020t0001g0107	1	426	0.0023	0	c.161 others(4): Show c.1612C>T	p.Gln others(4): Show p.Gln538*	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	6/7	1662/2872	1612/2502	538/833	chr4	TogoVar
CCDC121_chr2_27620638_27634012	27627592	G G	A A	stop_gained stop_gained	HIGH	NA18954.hp2 NA18957.hp2 NA18981.hp2 others(4): Show NA18954.hp2 NA18957.hp2 NA18981.hp2 NA18994.hp2 NA19002.hp1 NA19067.hp1 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	7	382	0.0183	0	c.208 others(3): Show c.208C>T	p.Arg others(3): Show p.Arg70*	CCDC121	ENSG00000176714.10	transcript	ENST00000324364.4	protein_coding	2/2	389/2343	208/837	70/278	chr2	TogoVar
CCDC122_chr13_43831352_43884740	43837350	C C	T T	stop_gained stop_gained	HIGH	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0155 a0006c0006t0001g0155	1	440	0.0023	0	c.752 others(3): Show c.752G>A	p.Trp others(4): Show p.Trp251*	CCDC122	ENSG00000151773.13	transcript	ENST00000444614.8	protein_coding	7/7	1061/2059	752/822	251/273	chr13	TogoVar
CCDC125_chr5_69275175_69337801	69320252	G G	A A	stop_gained stop_gained	HIGH	HG00639.hp1 HG01358.hp1 HG00639.hp1 HG01358.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0028 a0003c0003t0001g0029	2	340	0.0059	0	c.289 others(3): Show c.289C>T	p.Arg others(3): Show p.Arg97*	CCDC125	ENSG00000183323.13	transcript	ENST00000396496.7	protein_coding	2/12	482/4283	289/1536	97/511	chr5	TogoVar
CCDC134_chr22_41795679_41837164	41825782	C C	T T	stop_gained stop_gained	HIGH	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0002 a0003c0003t0003g0002	2	378	0.0053	0	c.649 others(3): Show c.649C>T	p.Arg others(4): Show p.Arg217*	CCDC134	ENSG00000100147.14	transcript	ENST00000255784.6	protein_coding	7/7	753/7135	649/690	217/229	chr22	TogoVar
CCDC141_chr2_178824757_179055137	178837719	A A	T T	stop_gained stop_gained	HIGH	NA18906.hp2 NA18906.hp2	a0021 a0021	a0021c0026 a0021c0026	a0021c0026t0061 a0021c0026t0061	a0021c0026t0061g0182 a0021c0026t0061g0182	1	272	0.0037	0	c.350 others(4): Show c.3500T>A	p.Leu others(5): Show p.Leu1167*	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	23/24	3696/9205	3500/4593	1167/1530	chr2	TogoVar
CCDC141_chr2_178824757_179055137	178905369	G G	A A	stop_gained stop_gained	HIGH	NA19000.hp1 NA19000.hp1	a0023 a0023	a0023c0042 a0023c0042	a0023c0042t0004 a0023c0042t0004	a0023c0042t0004g0257 a0023c0042t0004g0257	1	272	0.0037	0	c.122 others(4): Show c.1225C>T	p.Gln others(4): Show p.Gln409*	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	8/24	1421/9205	1225/4593	409/1530	chr2	TogoVar
CCDC142_chr2_74467832_74487998	74482033	G G	A A	stop_gained stop_gained	HIGH	HG02572.hp2 HG02572.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0003 a0009c0018t0003	a0009c0018t0003g0136 a0009c0018t0003g0136	1	368	0.0027	0	c.805 others(3): Show c.805C>T	p.Gln others(4): Show p.Gln269*	CCDC142	ENSG00000135637.14	transcript	ENST00000393965.8	protein_coding	1/9	966/4128	805/2253	269/750	chr2	TogoVar
CCDC149_chr4_24798514_24918042	24853143	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp2 HG00642.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0002 a0004c0015t0002	a0004c0015t0002g0042 a0004c0015t0002g0042	1	352	0.0028	0	c.286 others(3): Show c.286C>T	p.Arg others(3): Show p.Arg96*	CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	4/13	464/6661	286/1608	96/535	chr4	TogoVar
CCDC153_chr11_119185254_119200841	119193862	G G	A A	stop_gained stop_gained	HIGH	HG01884.hp1 HG02055.hp1 HG02109.hp1 others(5): Show HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02622.hp1 HG02647.hp1 HG03041.hp2 HG03486.hp2 HG03540.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0051 a0004c0005t0001g0105 a0004c0005t0001g0106 others(4): Show a0004c0005t0001g0051 a0004c0005t0001g0105 a0004c0005t0001g0106 a0004c0005t0001g0107 a0004c0005t0001g0108 a0004c0005t0001g0109 a0004c0005t0001g0110	8	426	0.0188	0	c.160 others(3): Show c.160C>T	p.Arg others(3): Show p.Arg54*	CCDC153	ENSG00000248712.8	transcript	ENST00000503566.7	protein_coding	4/7	215/734	160/633	54/210	chr11	TogoVar
CCDC158_chr4_76308039_76426141	76384255	G G	A A	stop_gained stop_gained	HIGH	HG02015.hp1 HG02015.hp1	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0002 a0007c0022t0002	a0007c0022t0002g0310 a0007c0022t0002g0310	1	346	0.0029	0	c.559 others(3): Show c.559C>T	p.Gln others(4): Show p.Gln187*	CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	6/25	852/3778	559/3354	187/1117	chr4	TogoVar
CCDC159_chr19_11341519_11359944	11353534	C C	A A	stop_gained stop_gained	HIGH	NA19068.hp1 NA19068.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0010 a0006c0008t0001g0010	1	356	0.0028	0	c.651 others(3): Show c.651C>A	p.Cys others(4): Show p.Cys217*	CCDC159	ENSG00000183401.12	transcript	ENST00000458408.6	protein_coding	8/11	739/1049	651/894	217/297	chr19	TogoVar
CCDC15_chr11_124949202_125046489	125038937	C C	T T	stop_gained stop_gained	HIGH	HG02723.hp1 HG02723.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0012 a0006c0016t0012	a0006c0016t0012g0030 a0006c0016t0012g0030	1	348	0.0029	0	c.260 others(4): Show c.2602C>T	p.Arg others(4): Show p.Arg868*	CCDC15	ENSG00000149548.15	transcript	ENST00000344762.6	protein_coding	15/16	2780/3812	2602/2856	868/951	chr11	TogoVar
CCDC163_chr1_45488866_45505073	45497311	G G	A A	stop_gained stop_gained	HIGH	HG01167.hp1 HG01884.hp1 HG02055.hp2 others(16): Show HG01167.hp1 HG01884.hp1 HG02055.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG06807.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0004 a0002c0002t0009 a0005c0005t0004 a0002c0002t0004 a0002c0002t0009 a0005c0005t0004	a0002c0002t0004g0007 a0002c0002t0004g0023 a0002c0002t0004g0025 others(4): Show a0002c0002t0004g0007 a0002c0002t0004g0023 a0002c0002t0004g0025 a0002c0002t0004g0048 a0002c0002t0009g0035 a0002c0002t0009g0047 a0005c0005t0004g0034	19	406	0.0468	0	c.250 others(3): Show c.250C>T	p.Gln others(3): Show p.Gln84*	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	3/5	714/2095	250/438	84/145	chr1	TogoVar
CCDC168_chr13_102724367_102764072	102731509	A A	C C	stop_gained stop_gained	HIGH	NA19240.hp1 NA19240.hp1	a0097 a0097	a0097c0111 a0097c0111	a0097c0111t0001 a0097c0111t0001	a0097c0111t0001g0171 a0097c0111t0001g0171	1	358	0.0028	0	c.191 others(5): Show c.19188T>G	p.Tyr others(5): Show p.Tyr6396*	CCDC168	ENSG00000175820.4	transcript	ENST00000322527.4	protein_coding	4/4	19328/21470	19188/21246	6396/7081	chr13	TogoVar
CCDC168_chr13_102724367_102764072	102741282	C C	A A	stop_gained stop_gained	HIGH	NA18967.hp2 NA18967.hp2	a0082 a0082	a0082c0054 a0082c0054	a0082c0054t0001 a0082c0054t0001	a0082c0054t0001g0067 a0082c0054t0001g0067	1	358	0.0028	0	c.941 others(4): Show c.9415G>T	p.Glu others(5): Show p.Glu3139*	CCDC168	ENSG00000175820.4	transcript	ENST00000322527.4	protein_coding	4/4	9555/21470	9415/21246	3139/7081	chr13	TogoVar
CCDC170_chr6_151489017_151626193	151573279	G G	T T	stop_gained stop_gained	HIGH	NA18963.hp2 NA18981.hp2 NA18963.hp2 NA18981.hp2	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0003 a0015c0024t0015 a0015c0024t0003 a0015c0024t0015	a0015c0024t0003g0278 a0015c0024t0015g0277 a0015c0024t0003g0278 a0015c0024t0015g0277	2	318	0.0063	0	c.880 others(3): Show c.880G>T	p.Glu others(4): Show p.Glu294*	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	6/11	992/5306	880/2148	294/715	chr6	TogoVar
CCDC171_chr9_15548043_15979037	15623384	C C	T T	stop_gained stop_gained	HIGH	HG00438.hp1 HG00438.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0003 a0012c0027t0003	a0012c0027t0003g0029 a0012c0027t0003g0029	1	264	0.0038	0	c.793 others(3): Show c.793C>T	p.Arg others(4): Show p.Arg265*	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	7/26	1164/6553	793/3981	265/1326	chr9	TogoVar
CCDC17_chr1_45615044_45629054	45620732	G G	T T	stop_gained stop_gained	HIGH	HG01192.hp2 HG01192.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0021 a0009c0014t0001g0021	1	432	0.0023	0	c.170 others(4): Show c.1701C>A	p.Tyr others(4): Show p.Tyr567*	CCDC17	ENSG00000159588.15	transcript	ENST00000528266.6	protein_coding	12/13	1846/2245	1701/1869	567/622	chr1	TogoVar
CCDC17_chr1_45615044_45629054	45623613	G G	A A	stop_gained stop_gained	HIGH	NA19030.hp1 NA19030.hp1	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0001 a0017c0021t0001	a0017c0021t0001g0035 a0017c0021t0001g0035	1	432	0.0023	0	c.214 others(3): Show c.214C>T	p.Gln others(3): Show p.Gln72*	CCDC17	ENSG00000159588.15	transcript	ENST00000528266.6	protein_coding	2/13	359/2245	214/1869	72/622	chr1	TogoVar
CCDC187_chr9_136244973_136309094	136253933	C C	CCCACCAG others(21): Show CCCACCAGGCCCAGGCGCCCGGCTCTCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03239.hp1 HG03927.hp2 HG03239.hp1 HG03927.hp2	a0058 a0058	a0058c0038 a0058c0038	a0058c0038t0002 a0058c0038t0002	a0058c0038t0002g0069 a0058c0038t0002g0200 a0058c0038t0002g0069 a0058c0038t0002g0200	2	398	0.0050	28	c.586 others(37): Show c.5867_5894dupCTGAGAGCCGGGCGCCTGGGCCTGGTGG	p.Asn others(6): Show p.Asn1966fs	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	6158/10119	5894/6234	1965/2077	chr9	TogoVar
CCDC187_chr9_136244973_136309094	136274658	C C	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00423.hp2 HG01516.hp1 HG01517.hp1 others(3): Show HG00423.hp2 HG01516.hp1 HG01517.hp1 HG02258.hp1 HG03239.hp2 NA18945.hp2	a0051 a0072 a0095 others(2): Show a0051 a0072 a0095 a0128 a0151	a0051c0033 a0072c0131 a0095c0071 others(2): Show a0051c0033 a0072c0131 a0095c0071 a0128c0111 a0151c0158	a0051c0033t0015 a0072c0131t0087 a0095c0071t0114 others(2): Show a0051c0033t0015 a0072c0131t0087 a0095c0071t0114 a0128c0111t0015 a0151c0158t0001	a0051c0033t0015g0197 a0051c0033t0015g0198 a0072c0131t0087g0104 others(3): Show a0051c0033t0015g0197 a0051c0033t0015g0198 a0072c0131t0087g0104 a0095c0071t0114g0028 a0128c0111t0015g0202 a0151c0158t0001g0227	6	398	0.0151	0	c.344 others(4): Show c.3442G>T	p.Glu others(5): Show p.Glu1148*	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	14/26	3706/10119	3442/6234	1148/2077	chr9	TogoVar
CCDC191_chr3_113959137_114061526	113980687	C C	T T	stop_gained stop_gained	HIGH	HG01106.hp1 HG01106.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0070 a0008c0022t0001g0070	1	378	0.0026	0	c.227 others(4): Show c.2270G>A	p.Trp others(4): Show p.Trp757*	CCDC191	ENSG00000163617.11	transcript	ENST00000295878.8	protein_coding	14/17	2330/3889	2270/2811	757/936	chr3	TogoVar
CCDC195_chr2_224698764_224721365	224716143	G G	A A	stop_gained stop_gained	HIGH	NA18970.hp2 NA18997.hp1 NA19075.hp1 NA18970.hp2 NA18997.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	3	410	0.0073	0	c.223 others(3): Show c.223C>T	p.Gln others(3): Show p.Gln75*	CCDC195	ENSG00000283428.1	transcript	ENST00000638102.1	protein_coding	1/3	223/606	223/606	75/201	chr2	TogoVar
CCDC197_chr14_93992301_94013863	93999587	A A	T T	stop_gained stop_gained	HIGH	NA18956.hp2 NA18956.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0001	a0012c0011t0001g0001 a0012c0011t0001g0001	1	392	0.0026	0	c.109 others(3): Show c.109A>T	p.Lys others(3): Show p.Lys37*	CCDC197	ENSG00000175699.15	transcript	ENST00000636493.2	protein_coding	3/7	513/1274	109/819	37/272	chr14	TogoVar
CCDC198_chr14_57464300_57498857	57480703	G G	A A	stop_gained stop_gained	HIGH	HG00642.hp2 HG01257.hp1 HG01258.hp2 HG00642.hp2 HG01257.hp1 HG01258.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0042 a0003c0005t0001g0179 a0003c0005t0001g0042 a0003c0005t0001g0179	3	360	0.0083	0	c.547 others(3): Show c.547C>T	p.Gln others(4): Show p.Gln183*	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding	5/6	689/3088	547/891	183/296	chr14	TogoVar
CCDC201_chr7_45854994_45878082	45863165	G G	A A	stop_gained stop_gained	HIGH	HG01496.hp2 HG01496.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0110 a0005c0012t0001g0110	1	444	0.0023	0	c.484 others(3): Show c.484C>T	p.Arg others(4): Show p.Arg162*	CCDC201	ENSG00000283247.2	transcript	ENST00000636578.2	protein_coding	3/3	559/3730	484/564	162/187	chr7	TogoVar
CCDC24_chr1_43986599_44001528	43992254	C C	T T	stop_gained stop_gained	HIGH	NA19079.hp1 NA19079.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0001 a0004c0005t0002g0001	1	404	0.0025	0	c.169 others(3): Show c.169C>T	p.Gln others(3): Show p.Gln57*	CCDC24	ENSG00000159214.13	transcript	ENST00000372318.8	protein_coding	3/9	349/1472	169/924	57/307	chr1	TogoVar
CCDC27_chr1_3747450_3776645	3754240	T T	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	NA18952.hp1 NA18952.hp1	a0039 a0039	a0039c0031 a0039c0031	a0039c0031t0001 a0039c0031t0001	a0039c0031t0001g0209 a0039c0031t0001g0209	1	426	0.0023	0	c.441 others(3): Show c.441T>A	p.Cys others(4): Show p.Cys147*	CCDC27	ENSG00000162592.10	transcript	ENST00000294600.7	protein_coding	2/12	473/2125	441/1971	147/656	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42497175	C C	T T	stop_gained stop_gained	HIGH	NA18940.hp2 NA18940.hp2	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0014 a0010c0027t0014	a0010c0027t0014g0272 a0010c0027t0014g0272	1	322	0.0031	0	c.319 others(3): Show c.319C>T	p.Arg others(4): Show p.Arg107*	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	5/21	1023/6683	319/2817	107/938	chr1	TogoVar
CCDC50_chr3_191324394_191403659	191375400	C C	T T	stop_gained stop_gained	HIGH	HG02622.hp1 HG02622.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0004 a0009c0013t0004	a0009c0013t0004g0213 a0009c0013t0004g0213	1	404	0.0025	0	c.787 others(3): Show c.787C>T	p.Arg others(4): Show p.Arg263*	CCDC50	ENSG00000152492.15	transcript	ENST00000392455.9	protein_coding	6/12	1068/8629	787/1449	263/482	chr3	TogoVar
CCDC54_chr3_107372439_107383635	107377903	G G	T T	stop_gained stop_gained	HIGH	HG02976.hp2 HG02976.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0000 a0010c0015t0001g0000	1	398	0.0025	0	c.316 others(3): Show c.316G>T	p.Glu others(4): Show p.Glu106*	CCDC54	ENSG00000138483.3	transcript	ENST00000261058.3	protein_coding	1/1	465/1197	316/987	106/328	chr3	TogoVar
CCDC60_chr12_119329729_119546040	119540620	C C	T T	stop_gained stop_gained	HIGH	HG02976.hp1 HG02976.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0216 a0011c0013t0001g0216	1	254	0.0039	0	c.155 others(4): Show c.1558C>T	p.Arg others(4): Show p.Arg520*	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	14/14	2006/2426	1558/1653	520/550	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110853406	T T	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00621.hp1 HG00621.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0072 a0008c0008t0001g0072	1	286	0.0035	0	c.11T others(2): Show c.11T>A	p.Leu others(2): Show p.Leu4*	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	3/12	226/1966	11/1692	4/563	chr12	TogoVar
CCDC77_chr12_396644_447642	411748	C C	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG01074.hp2 HG01074.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0004 a0008c0013t0004	a0008c0013t0004g0417 a0008c0013t0004g0417	1	430	0.0023	0	c.40C others(2): Show c.40C>T	p.Arg others(3): Show p.Arg14*	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	4/13	151/2300	40/1467	14/488	chr12	TogoVar
CCDC77_chr12_396644_447642	418623	C C	T T	stop_gained stop_gained	HIGH	NA19065.hp1 NA19065.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0395 a0008c0011t0002g0395	1	430	0.0023	0	c.400 others(3): Show c.400C>T	p.Arg others(4): Show p.Arg134*	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/13	511/2300	400/1467	134/488	chr12	TogoVar
CCDC7_chr10_32441140_32887864	32472494	C C	T T	stop_gained stop_gained	HIGH	NA18954.hp2 NA19076.hp2 NA18954.hp2 NA19076.hp2	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0326 a0012c0016t0001g0327 a0012c0016t0001g0326 a0012c0016t0001g0327	2	361	0.0055	0	c.691 others(3): Show c.691C>T	p.Arg others(4): Show p.Arg231*	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	8/44	1000/4826	691/4158	231/1385	chr10	TogoVar
CCDC7_chr10_32441140_32887864	32845956	C C	T T	stop_gained stop_gained	HIGH	NA19043.hp1 NA19043.hp1	a0021 a0021	a0021c0025 a0021c0025	a0021c0025t0001 a0021c0025t0001	a0021c0025t0001g0306 a0021c0025t0001g0306	1	366	0.0027	0	c.360 others(4): Show c.3601C>T	p.Arg others(5): Show p.Arg1201*	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	37/44	3910/4826	3601/4158	1201/1385	chr10	TogoVar
CCDC9B_chr15_40326452_40345939	40335628	G G	A A	stop_gained stop_gained	HIGH	HG01934.hp2 HG01934.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0047 a0005c0012t0001g0047	1	420	0.0024	0	c.100 others(4): Show c.1003C>T	p.Arg others(4): Show p.Arg335*	CCDC9B	ENSG00000188549.13	transcript	ENST00000397536.7	protein_coding	11/11	1123/5299	1003/1473	335/490	chr15	TogoVar

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