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	distance	status	chr	external
CCDC144A_chr17_16685241_16782881	16711154	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	316	0.0032	19	c.157 others(36): Show c.1579-521_1579-520insAAAAAAAAAAAAAACAAAA		CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC144A_chr17_16685241_16782881	16718832	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0024 a0007c0024	a0007c0024t0011 a0007c0024t0011	a0007c0024t0011g0316 a0007c0024t0011g0316	1	220	0.0045	19	c.171 others(38): Show c.1716-1349_1716-1348insTTTTTTTTTTTTTTTTTTT		CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	6/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC148_chr2_158166073_158461753	158406635	T T	TGTTTTTG others(12): Show TGTTTTTGTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	259	0.0039	19	c.26- others(36): Show c.26-48066_26-48065insCAAAAACAAAAACAAAAAC		CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13						chr2	TogoVar
CCDC149_chr4_24798514_24918042	24874244	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG01891.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0061 a0001c0001t0004g0059 a0001c0001t0004g0061	2	192	0.0104	19	c.211 others(34): Show c.211-526_211-525insAAAAAAAAAAAAAAAAAAA		CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	2/12						chr4	TogoVar
CCDC149_chr4_24798514_24918042	24893613	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0339 a0001c0001t0006g0339	1	4	0.2500	19	c.49- others(36): Show c.49-16935_49-16917dupAAAAAAAAAAAAAAAAAAA		CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	1/12						chr4	TogoVar
CCDC14_chr3_123908422_123966229	123934270	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG06807.hp2 HG02486.hp2 HG06807.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0017 a0001c0001 a0008c0017	a0001c0001t0001 a0008c0017t0001 a0001c0001t0001 a0008c0017t0001	a0001c0001t0001g0256 a0008c0017t0001g0269 a0001c0001t0001g0256 a0008c0017t0001g0269	2	31	0.0645	19	c.134 others(36): Show c.1344-534_1344-516dupTTTTTTTTTTTTTTTTTTT		CCDC14	ENSG00000175455.16	transcript	ENST00000409697.8	protein_coding	9/12						chr3	TogoVar
CCDC170_chr6_151489017_151626193	151572649	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02280.hp2 HG03098.hp2 HG02080.hp2 HG02280.hp2 HG03098.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0005 a0002c0003 a0007c0011 a0001c0005 a0002c0003 a0007c0011	a0001c0005t0030 a0002c0003t0004 a0007c0011t0011 a0001c0005t0030 a0002c0003t0004 a0007c0011t0011	a0001c0005t0030g0178 a0002c0003t0004g0270 a0007c0011t0011g0116 a0001c0005t0030g0178 a0002c0003t0004g0270 a0007c0011t0011g0116	3	202	0.0149	19	c.775 others(34): Show c.775-523_775-505dupTTTTTTTTTTTTTTTTTTT		CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC171_chr9_15548043_15979037	15608944	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	81	0.0123	19	c.676 others(38): Show c.676-14313_676-14295dupAAAAAAAAAAAAAAAAAAA		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15610444	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp1 HG01361.hp1 others(2): Show HG00597.hp1 HG01081.hp1 HG01361.hp1 NA18950.hp2 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0013 a0002c0002 a0002c0013	a0002c0002t0002 a0002c0013t0002 a0002c0002t0002 a0002c0013t0002	a0002c0002t0002g0126 a0002c0002t0002g0131 a0002c0002t0002g0141 others(2): Show a0002c0002t0002g0126 a0002c0002t0002g0131 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0013t0002g0068	5	48	0.1042	19	c.676 others(38): Show c.676-12804_676-12786dupAAAAAAAAAAAAAAAAAAA		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15610469	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0124 a0002c0002t0002g0124	1	263	0.0038	19	c.676 others(38): Show c.676-12786_676-12785insAAAAAACAAAAAAAAAAAA		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15677925	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0024 a0017c0026t0024	a0017c0026t0024g0075 a0017c0026t0024g0075	1	126	0.0079	19	c.107 others(36): Show c.1077-832_1077-831insTATATATATATATATATAA		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	9/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15778313	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0018	a0003c0003t0018g0260 a0003c0003t0018g0260	1	16	0.0625	19	c.289 others(36): Show c.2898+507_2898+525dupAAAAAAAAAAAAAAAAAAA		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	19/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC171_chr9_15548043_15979037	15793551	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0264 a0003c0003t0007g0264	1	24	0.0417	19	c.326 others(38): Show c.3267+8868_3267+8886dupTTTTTTTTTTTTTTTTTTT		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	21/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC178_chr18_32932406_33445721	33388519	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	4	0.2500	19	c.208 others(36): Show c.208+1020_208+1021insAAAAAAAAAAAAAAAAAAA		CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	5/22						chr18	TogoVar
CCDC179_chr11_22841922_22865474	22850966	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19082.hp1 NA18953.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	401	0.0050	19	c.196 others(36): Show c.196-3446_196-3445insAAAAAAAAAAAAAAAAAAA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850968	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19079.hp1 HG02080.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0069 a0001c0001t0001g0006 a0001c0001t0001g0069	2	377	0.0053	19	c.196 others(36): Show c.196-3448_196-3447insAAAAAAAAAAAAAAAAAAA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850970	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	361	0.0028	19	c.196 others(36): Show c.196-3450_196-3449insAAAAAAAAAAAAAAAAAAA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850972	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18985.hp1 NA19060.hp2 others(1): Show NA18972.hp2 NA18985.hp1 NA19060.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0073 a0001c0001t0001g0006 a0001c0001t0001g0073	4	297	0.0135	19	c.196 others(36): Show c.196-3452_196-3451insAAAAAAAAAAAAAAAAAAA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850974	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02148.hp1 NA18975.hp2 HG01928.hp1 HG02148.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0006 a0002c0002t0002g0018 a0001c0001t0001g0006 a0002c0002t0002g0018	3	230	0.0130	19	c.196 others(36): Show c.196-3454_196-3453insAAAAAAAAAAAAAAAAAAA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0116 a0002c0002t0002g0116	1	77	0.0130	19	c.196 others(36): Show c.196-3456_196-3455insAAAAAAAAAAATATATATA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	77	0.0130	19	c.196 others(36): Show c.196-3456_196-3455insAAAAAAAAAAAAATATATA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18987.hp2 HG03579.hp2 NA18987.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0009 a0002c0002t0002g0002 a0002c0002t0002g0009	2	78	0.0256	19	c.196 others(36): Show c.196-3456_196-3455insAAAAAAAAAAAAAAATATA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19066.hp2 NA18955.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	2	78	0.0256	19	c.196 others(36): Show c.196-3456_196-3455insAAAAAAAAAAAAAAAAATA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC179_chr11_22841922_22865474	22850976	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03490.hp1 NA18976.hp1 HG02735.hp2 HG03490.hp1 NA18976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0029 a0002c0002t0002g0002 a0002c0002t0002g0029	3	79	0.0380	19	c.196 others(36): Show c.196-3474_196-3456dupAAAAAAAAAAAAAAAAAAA		CCDC179	ENSG00000255359.3	transcript	ENST00000532798.3	protein_coding	3/3						chr11	TogoVar
CCDC187_chr9_136244973_136309094	136277504	G G	GGGGTGGG others(12): Show GGGGTGGGTGGGTGCTCATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19091.hp1 NA19009.hp1 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0005 a0001c0002 a0005c0005	a0001c0002t0001 a0005c0005t0001 a0001c0002t0001 a0005c0005t0001	a0001c0002t0001g0235 a0005c0005t0001g0360 a0001c0002t0001g0235 a0005c0005t0001g0360	2	398	0.0050	19	c.304 others(36): Show c.3041-796_3041-778dupTATGAGCACCCACCCACCC		CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	10/25						chr9	TogoVar
CCDC192_chr5_127698391_127946507	127884342	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	111	0.0090	19	c.535 others(36): Show c.535+8690_535+8708dupAAAAAAAAAAAAAAAAAAA		CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC194_chr19_17382196_17399196	17382276	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01167.hp1 others(7): Show HG00323.hp1 HG00639.hp1 HG01167.hp1 HG01168.hp2 HG01515.hp1 HG01978.hp2 HG01993.hp1 HG02922.hp1 HG03041.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0013 a0002c0002t0002g0004 a0001c0001t0001g0001 a0001c0001t0001g0013 a0002c0002t0002g0004	10	164	0.0610	19	c.82 others(30): Show c.8232_*8233insCTTTCTTTCTTTCTTTCTT		CCDC194	ENSG00000269720.3	transcript	ENST00000636079.2	protein_coding					4919		chr19	TogoVar
CCDC195_chr2_224698764_224721365	224706189	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	45	0.0222	19	c.483 others(36): Show c.483-2321_483-2303dupAAAAAAAAAAAAAAAAAAA		CCDC195	ENSG00000283428.1	transcript	ENST00000638102.1	protein_coding	2/2						chr2	TogoVar
CCDC196_chr14_66481371_66503553	66484176	A A	AAATATAT others(12): Show AAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	217	0.0046	19	c.-23 others(30): Show c.-2327_-2326insAATATATATATATATATAT		CCDC196	ENSG00000196553.15	transcript	ENST00000636229.1	protein_coding					2194		chr14	TogoVar
CCDC200_chr17_43216420_43233623	43225677	A A	AAGTATAT others(12): Show AAGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	198	0.0051	19	c.106 others(36): Show c.106-1129_106-1128insATATATATATATATATACT		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding	1/3						chr17	TogoVar
CCDC200_chr17_43216420_43233623	43230678	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01433.hp1 HG01261.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0205 a0001c0001t0002g0209	2	28	0.0714	19	c.-21 others(30): Show c.-2143_-2125dupTTTTTTTTTTTTTTTTTTT		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding					2056		chr17	TogoVar
CCDC25_chr8_27728316_27777640	27759779	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	84	0.0119	19	c.116 others(36): Show c.116+2621_116+2639dupTTTTTTTTTTTTTTTTTTT		CCDC25	ENSG00000147419.19	transcript	ENST00000356537.9	protein_coding	3/8						chr8	TogoVar
CCDC30_chr1_42458286_42662190	42575649	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01175.hp2 HG01891.hp1 others(17): Show HG00423.hp2 HG01175.hp2 HG01891.hp1 HG02027.hp1 HG02080.hp1 HG02486.hp1 HG02698.hp2 HG02976.hp1 HG03831.hp1 HG04199.hp2 NA18971.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19075.hp1 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0010 a0001c0002 a0001c0004 a0001c0010	a0001c0002t0002 a0001c0004t0002 a0001c0004t0003 others(4): Show a0001c0002t0002 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0009 a0001c0004t0015 a0001c0010t0004	a0001c0002t0002g0210 a0001c0002t0002g0212 a0001c0002t0002g0224 others(17): Show a0001c0002t0002g0210 a0001c0002t0002g0212 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0229 a0001c0002t0002g0237 a0001c0002t0002g0243 a0001c0002t0002g0250 a0001c0002t0002g0263 a0001c0002t0002g0280 a0001c0002t0002g0286 a0001c0004t0002g0297 a0001c0004t0003g0236 a0001c0004t0003g0254 a0001c0004t0004g0232 a0001c0004t0004g0269 a0001c0004t0004g0275 a0001c0004t0009g0213 a0001c0004t0015g0205 a0001c0010t0004g0274	20	29	0.6897	19	c.132 others(38): Show c.1321-1362_1321-1361insAAAAAAAAAAAAAAAAAAA		CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	11/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC40_chr17_80031642_80105613	80044700	A A	AAATGTGT others(12): Show AAATGTGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA19240.hp1 HG01255.hp1 NA19240.hp1	a0001 a0015 a0001 a0015	a0001c0021 a0015c0028 a0001c0021 a0015c0028	a0001c0021t0006 a0015c0028t0001 a0001c0021t0006 a0015c0028t0001	a0001c0021t0006g0309 a0015c0028t0001g0294 a0001c0021t0006g0309 a0015c0028t0001g0294	2	321	0.0062	19	c.553 others(36): Show c.553-2578_553-2577insATGTGTATATATATATATA		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0136 a0001c0013t0003g0136	1	22	0.0455	19	c.116 others(38): Show c.1160-2477_1160-2476insATATATATATTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG01106.hp2 HG01167.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0018 a0001c0002 a0002c0018	a0001c0002t0003 a0002c0018t0002 a0001c0002t0003 a0002c0018t0002	a0001c0002t0003g0243 a0002c0018t0002g0226 a0001c0002t0003g0243 a0002c0018t0002g0226	2	23	0.0870	19	c.116 others(38): Show c.1160-2477_1160-2476insATATATATTTTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01261.hp2 HG02135.hp2 others(4): Show HG00408.hp1 HG01261.hp2 HG02135.hp2 NA18962.hp2 NA18982.hp2 NA19009.hp1 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0221 a0001c0002t0003g0228 a0001c0002t0003g0250 others(4): Show a0001c0002t0003g0221 a0001c0002t0003g0228 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0272 a0001c0002t0003g0275	7	28	0.2500	19	c.116 others(38): Show c.1160-2477_1160-2476insATATATTTTTTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02155.hp2 HG02523.hp1 HG00673.hp1 HG02155.hp2 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0222 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0222	3	24	0.1250	19	c.116 others(38): Show c.1160-2477_1160-2476insATATTTTTTTTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80056016	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18950.hp2 HG02165.hp1 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0003 a0001c0011t0001 a0001c0002t0003 a0001c0011t0001	a0001c0002t0003g0269 a0001c0011t0001g0240 a0001c0002t0003g0269 a0001c0011t0001g0240	2	23	0.0870	19	c.116 others(38): Show c.1160-2477_1160-2476insATTTTTTTTTTTTTTTTTT		CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	7/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC40_chr17_80031642_80105613	80099735	A A	AGATGATC others(12): Show AGATGATCGCCAACAAGCTC	frameshift_variant frameshift_variant	HIGH	HG02896.hp2 HG02896.hp2	a0022 a0022	a0022c0072 a0022c0072	a0022c0072t0002 a0022c0072t0002	a0022c0072t0002g0317 a0022c0072t0002g0317	1	376	0.0027	19	c.339 others(28): Show c.3392_3410dupTGATCGCCAACAAGCTCGA	p.Glu others(6): Show p.Glu1137fs	CCDC40	ENSG00000141519.15	transcript	ENST00000397545.9	protein_coding	20/20	3432/4288	3411/3429	1137/1142		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC42_chr17_8724935_8749836	8738066	T T	TCCTCCCA others(12): Show TCCTCCCACCTCAGCCTCCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	407	0.0025	19	c.493 others(36): Show c.493-2474_493-2456dupGGGAGGCTGAGGTGGGAGG		CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding	4/6						chr17	TogoVar
CCDC47_chr17_63740255_63778597	63751365	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	32	0.0313	19	c.137 others(36): Show c.1371+556_1371+574dupTTTTTTTTTTTTTTTTTTT		CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	12/12						chr17	TogoVar
CCDC47_chr17_63740255_63778597	63771045	G G	GAAGGAAG others(12): Show GAAGGAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	101	0.0099	19	c.-20 others(36): Show c.-20+2366_-20+2367insTCTTTCTTTCTTCTTCCTT		CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	1/12						chr17	TogoVar
CCDC57_chr17_82096470_82217842	82184031	G G	GCGCGCGG others(12): Show GCGCGCGGCGCGCGCACACA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	69	0.0145	19	c.105 others(35): Show c.1053-100_1053-99insTGTGTGCGCGCGCCGCGCG		CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	7/18						chr17	TogoVar
CCDC60_chr12_119329729_119546040	119397826	G G	GAGGGAGG others(12): Show GAGGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(43): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00639.hp1 HG00733.hp1 HG01070.hp2 HG01099.hp1 HG01168.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01884.hp2 HG01978.hp1 HG02027.hp1 HG02040.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02300.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp2 HG02922.hp1 HG03710.hp1 HG03831.hp2 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18967.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18999.hp2 NA19043.hp2 NA19068.hp1 NA19074.hp1 NA19079.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0004 a0001c0001 a0002c0002 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0005c0004t0003	a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 others(43): Show a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0253 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0003g0177 a0001c0001t0004g0128 a0001c0001t0004g0131 a0001c0001t0005g0205 a0002c0002t0001g0185 a0002c0002t0001g0194 a0002c0002t0001g0204 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0199 a0002c0002t0003g0201 a0005c0004t0003g0251	46	227	0.2026	19	c.91- others(36): Show c.91-30857_91-30856insAGGGAGGGGGGAGGGGGGA		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13						chr12	TogoVar
CCDC60_chr12_119329729_119546040	119397826	G G	GAGGGAGG others(12): Show GAGGGAGGGGGGTGGGGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	182	0.0055	19	c.91- others(36): Show c.91-30857_91-30856insAGGGAGGGGGGTGGGGGGA		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13						chr12	TogoVar
CCDC60_chr12_119329729_119546040	119445433	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	147	0.0068	19	c.170 others(38): Show c.170+16676_170+16694dupAAAAAAAAAAAAAAAAAAA		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC60_chr12_119329729_119546040	119456060	A A	AAAGGAAA others(12): Show AAAGGAAAGAAGAAGCAAGC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0193 a0002c0002t0003g0193	1	118	0.0085	19	c.171 others(38): Show c.171-15931_171-15930insGAAAGAAGAAGCAAGCAAG		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC60_chr12_119329729_119546040	119524716	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0020 a0002c0002t0003g0020	1	188	0.0053	19	c.122 others(36): Show c.1229+902_1229+903insTTTTTTTTTTTTTTTTTTT		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC60_chr12_119329729_119546040	119524721	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18747.hp2 NA18979.hp2 others(2): Show HG03098.hp2 NA18747.hp2 NA18979.hp2 NA19043.hp2 NA19079.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0008 a0001c0001 a0013c0008	a0001c0001t0001 a0001c0001t0002 a0013c0008t0001 a0001c0001t0001 a0001c0001t0002 a0013c0008t0001	a0001c0001t0001g0012 a0001c0001t0001g0176 a0001c0001t0001g0202 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0176 a0001c0001t0001g0202 a0001c0001t0002g0135 a0013c0008t0001g0075	5	130	0.0385	19	c.122 others(36): Show c.1229+904_1229+922dupTTTTTTTTTTTTTTTTTTT		CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr12	TogoVar

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