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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CEP85L_chr6_118455772_118656591	118600300	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02135.hp1 HG06807.hp1 HG01952.hp1 HG02135.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0004c0004t0006 a0001c0001t0001 a0001c0001t0004 a0004c0004t0006	a0001c0001t0001g0141 a0001c0001t0004g0096 a0004c0004t0006g0048 a0001c0001t0001g0141 a0001c0001t0004g0096 a0004c0004t0006g0048	3	119	0.0252	19	c.232 others(38): Show c.232+32152_232+32153insACACACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118614935	T T	TATTATAA others(12): Show TATTATAAATGTATTTCTAA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0179 a0002c0002t0002g0179	1	300	0.0033	19	c.232 others(38): Show c.232+17499_232+17517dupTTAGAAATACATTTATAAT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26248722	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG06807.hp2 HG03516.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0110 a0001c0001t0003g0106 a0001c0001t0003g0110	2	99	0.0202	19	c.208 others(36): Show c.208+4408_208+4426dupTTTTTTTTTTTTTTTTTTT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85_chr1_26229200_26283808	26256928	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA19064.hp2 HG01433.hp1 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0209 a0002c0002t0001g0012 a0002c0002t0001g0209	2	21	0.0952	19	c.904 others(34): Show c.904-669_904-668insTGTGTGTGTGTGTGTGTGT	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding	4/13			chr1	TogoVar
CEPT1_chr1_111135223_111190104	111149266	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	2	252	0.0079	19	c.339 others(36): Show c.339+1227_339+1228insTTTTTTTTTTTTTTTTTTT	CEPT1	ENSG00000134255.16	transcript	ENST00000357172.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
CERS4_chr19_8204370_8267421	8240614	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0385 a0002c0013t0001g0385	1	416	0.0024	19	c.-1- others(36): Show c.-1-10461_-1-10460insGTGTGTGTGTGTGTGTGTT	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8249206	A A	ATGGGTGG others(12): Show ATGGGTGGATGGATGATGGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02280.hp1 others(5): Show HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02886.hp2 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0012 a0003c0007 others(1): Show a0001c0001 a0001c0012 a0003c0007 a0005c0010	a0001c0001t0001 a0001c0012t0002 a0003c0007t0003 others(2): Show a0001c0001t0001 a0001c0012t0002 a0003c0007t0003 a0005c0010t0001 a0005c0010t0015	a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0012t0002g0140 others(5): Show a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0012t0002g0140 a0003c0007t0003g0126 a0003c0007t0003g0127 a0003c0007t0003g0128 a0005c0010t0001g0091 a0005c0010t0015g0092	8	416	0.0192	19	c.-1- others(34): Show c.-1-1861_-1-1843dupTGGATGATGGGTGGGTGGA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS4_chr19_8204370_8267421	8266863	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03491.hp2 HG03834.hp1 others(1): Show HG02109.hp2 HG03491.hp2 HG03834.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0135 a0001c0001t0003g0048 a0001c0001t0003g0049 others(1): Show a0001c0001t0002g0135 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0391	4	58	0.0690	19	c.47 others(30): Show c.4754_*4755insAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4443		chr19	TogoVar
CERS4_chr19_8204370_8267421	8267294	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG01361.hp1 others(10): Show HG00738.hp2 HG01243.hp1 HG01361.hp1 HG01952.hp1 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02683.hp2 NA18955.hp2 NA18975.hp1 NA18975.hp2 NA19056.hp2 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0003c0004t0001 a0003c0007t0001	a0001c0001t0001g0115 a0001c0001t0001g0197 a0001c0001t0002g0235 others(10): Show a0001c0001t0001g0115 a0001c0001t0001g0197 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0357 a0001c0001t0002g0374 a0001c0001t0003g0036 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0002t0001g0203 a0003c0004t0001g0029 a0003c0004t0001g0166 a0003c0007t0001g0037	13	120	0.1083	19	c.51 others(30): Show c.5185_*5186insAAAAAAAAAAAAAAAAAAA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4874		chr19	TogoVar
CERS5_chr12_50124289_50172369	50161784	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0274 a0001c0001t0016g0274	1	83	0.0120	19	c.197 others(36): Show c.197+5316_197+5317insTTTTTTTTTTTTTTTTTTT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168475534	G G	GGTAGAGG others(12): Show GGTAGAGGAAGACCATAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01255.hp1 others(13): Show HG00735.hp1 HG01099.hp1 HG01255.hp1 HG02071.hp2 HG02145.hp1 HG02258.hp2 HG02523.hp2 HG02559.hp1 NA18945.hp1 NA18957.hp1 NA18984.hp2 NA19000.hp1 NA19009.hp2 NA19070.hp1 NA19085.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0026 a0001c0001t0035 a0001c0001t0036	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 others(13): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0004g0155 a0001c0001t0006g0008 a0001c0001t0026g0152 a0001c0001t0035g0156 a0001c0001t0036g0149	16	174	0.0920	19	c.170 others(38): Show c.170+18921_170+18922insGGAAGACCATAAATGTAGA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168520598	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG00735.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0026 a0001c0001t0004g0067 a0001c0001t0003g0026 a0001c0001t0004g0067	2	18	0.1111	19	c.171 others(38): Show c.171-26987_171-26969dupTTTTTTTTTTTTTTTTTTT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERS6_chr2_168451272_168780134	168559754	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	172	0.0058	19	c.277 others(36): Show c.277-1438_277-1437insATATATATATATATATATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	2/9			chr2	TogoVar
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02622.hp1 HG02647.hp1 others(9): Show HG00735.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02895.hp2 HG03453.hp2 HG04228.hp2 NA18956.hp2 NA18984.hp1 NA19070.hp2 NA19086.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0308 a0001c0001t0001g0316 a0001c0001t0001g0318 others(9): Show a0001c0001t0001g0308 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0003g0174 a0001c0002t0001g0030 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0058 a0001c0002t0004g0066 a0001c0002t0004g0067	12	20	0.6000	19	c.118 others(38): Show c.1189-3934_1189-3916dupTTTTTTTTTTTTTTTTTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CES5A_chr16_55841154_55880373	55866658	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01071.hp2 others(12): Show HG00544.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01123.hp2 HG01169.hp2 HG01257.hp1 HG01261.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03834.hp2 HG04184.hp2 NA18747.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0004 others(4): Show a0001c0001 a0001c0002 a0003c0004 a0003c0011 a0003c0013 a0005c0008 a0005c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 a0003c0004t0002 a0003c0004t0004 a0003c0011t0004 a0003c0013t0002 a0005c0008t0002 a0005c0017t0002	a0001c0001t0001g0196 a0001c0001t0001g0318 a0001c0001t0003g0100 others(11): Show a0001c0001t0001g0196 a0001c0001t0001g0318 a0001c0001t0003g0100 a0001c0001t0005g0160 a0001c0002t0003g0016 a0003c0004t0002g0348 a0003c0004t0002g0384 a0003c0004t0004g0007 a0003c0004t0004g0009 a0003c0004t0004g0088 a0003c0011t0004g0086 a0003c0013t0002g0321 a0005c0008t0002g0028 a0005c0017t0002g0201	15	298	0.0503	19	c.552 others(34): Show c.552-561_552-543dupTTTTTTTTTTTTTTTTTTT	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	4/12			chr16	TogoVar
CETP_chr16_56956950_56988845	56959938	G G	GGAAGAAA others(12): Show GGAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	145	0.0069	19	c.-20 others(30): Show c.-2042_-2041insGAAGAAAGAAAGAAAGAAA	CETP	ENSG00000087237.12	transcript	ENST00000200676.8	protein_coding		2011		chr16	TogoVar
CFAP206_chr6_87402972_87469465	87408455	T T	TGCGCACA others(12): Show TGCGCACACAGATCCGGAGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp1 others(34): Show HG00423.hp1 HG00423.hp2 HG00597.hp1 HG01074.hp1 HG01106.hp1 HG01168.hp1 HG01175.hp2 HG01261.hp2 HG01433.hp1 HG01943.hp2 HG01981.hp2 HG02135.hp2 HG02273.hp1 HG02486.hp1 HG02683.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18906.hp1 NA18945.hp2 NA18960.hp1 NA18970.hp1 NA18984.hp2 NA18985.hp1 NA19000.hp1 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19030.hp2 NA19075.hp1 NA19081.hp2 NA19084.hp1 NA19087.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0185 others(30): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0325 a0001c0001t0002g0013 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0003t0001g0016 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198	37	128	0.2891	19	c.-6+ others(32): Show c.-6+503_-6+521dupCACACAGATCCGGAGCGCG	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP206_chr6_87402972_87469465	87434757	C C	CAAAGTGC others(12): Show CAAAGTGCTGGAATTACAGG	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0221 a0001c0003t0001g0221	1	374	0.0027	19	c.130 others(35): Show c.1301-102_1301-84dupAAAGTGCTGGAATTACAGG	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP20DC_chr3_58737008_59055025	58751867	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp2 HG03540.hp1 HG02615.hp1 HG02922.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0158 a0001c0002t0001g0197 a0001c0002t0001g0198	3	195	0.0154	19	c.233 others(38): Show c.2332+1901_2332+1902insGTGTGTGTGTGTGTGTGTG	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	16/16			chr3	TogoVar
CFAP20DC_chr3_58737008_59055025	58941327	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0199 a0001c0002t0001g0199	1	108	0.0093	19	c.279 others(36): Show c.279-3584_279-3566dupTTTTTTTTTTTTTTTTTTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	4/16			chr3	TogoVar
CFAP210_chr2_169640425_169699405	169653029	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	203	0.0049	19	c.959 others(36): Show c.959+1045_959+1046insATATATATATTTTTTTTTT	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8			chr2	TogoVar
CFAP210_chr2_169640425_169699405	169653029	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	203	0.0049	19	c.959 others(36): Show c.959+1045_959+1046insATATATATATATTTTTTTT	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8			chr2	TogoVar
CFAP251_chr12_121913592_122008919	121952240	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0006 a0003c0002t0001g0006	1	25	0.0400	19	c.132 others(36): Show c.1320+723_1320+741dupAAAAAAAAAAAAAAAAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121966207	C C	CCCTCCCC others(12): Show CCCTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0060 a0001c0009t0001g0060	1	352	0.0028	19	c.249 others(36): Show c.2493-735_2493-734insCCCCTTCCTCCCCTCCCCT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121978393	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02683.hp2 NA18906.hp2 HG01943.hp1 HG02683.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0010 a0001c0003 a0004c0010	a0001c0003t0001 a0004c0010t0001 a0001c0003t0001 a0004c0010t0001	a0001c0003t0001g0088 a0001c0003t0001g0311 a0004c0010t0001g0065 a0001c0003t0001g0088 a0001c0003t0001g0311 a0004c0010t0001g0065	3	25	0.1200	19	c.300 others(38): Show c.3006+2718_3006+2736dupAAAAAAAAAAAAAAAAAAA	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP276_chr1_109100951_109117747	109113451	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	275	0.0036	19	c.-77 others(28): Show c.-773_-772insACTCCTCTCTCTCTCTCTC	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		705		chr1	TogoVar
CFAP298_chr21_32594354_32617377	32600575	A A	AACGTCTG others(12): Show AACGTCTGGGCCATTTCTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00639.hp2 others(24): Show HG00140.hp2 HG00280.hp1 HG00639.hp2 HG01099.hp1 HG01516.hp2 HG01952.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02622.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG03704.hp1 HG04184.hp1 HG04228.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 others(8): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0035 a0001c0001t0037 a0001c0002t0022 a0001c0002t0038 a0002c0008t0014	a0001c0001t0009g0078 a0001c0001t0009g0081 a0001c0001t0009g0082 others(22): Show a0001c0001t0009g0078 a0001c0001t0009g0081 a0001c0001t0009g0082 a0001c0001t0009g0185 a0001c0001t0009g0186 a0001c0001t0009g0194 a0001c0001t0010g0047 a0001c0001t0010g0189 a0001c0001t0010g0190 a0001c0001t0010g0191 a0001c0001t0010g0192 a0001c0001t0014g0105 a0001c0001t0014g0179 a0001c0001t0014g0181 a0001c0001t0017g0079 a0001c0001t0017g0080 a0001c0001t0017g0083 a0001c0001t0021g0046 a0001c0001t0024g0180 a0001c0001t0035g0193 a0001c0001t0037g0182 a0001c0002t0022g0215 a0001c0002t0022g0217 a0001c0002t0038g0216 a0002c0008t0014g0213	27	414	0.0652	19	c.12 others(30): Show c.1287_*1288insCCAGAAATGGCCCAGACGT	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	7/7	1287		chr21	TogoVar
CFAP298_chr21_32594354_32617377	32611339	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18956.hp1 HG02965.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0073 a0001c0001t0003g0207 a0001c0001t0001g0073 a0001c0001t0003g0207	2	346	0.0058	19	c.139 others(34): Show c.139+765_139+766insATATATATATATATATATA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP299_chr4_80330730_80968750	80572507	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	13	0.0769	19	c.243 others(38): Show c.243-10576_243-10558dupTTTTTTTTTTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80669145	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG03195.hp1 HG02451.hp1 HG02647.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001	a0001c0001t0002g0027 a0001c0003t0001g0089 a0002c0002t0001g0028 a0001c0001t0002g0027 a0001c0003t0001g0089 a0002c0002t0001g0028	3	54	0.0556	19	c.333 others(38): Show c.333+85965_333+85966insTTTTTTTTTTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799812	T T	TATATATA others(12): Show TATATATATCATATAATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01168.hp1 HG02523.hp1 others(2): Show HG00423.hp2 HG01168.hp1 HG02523.hp1 HG02735.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0063 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0063 a0001c0004t0001g0094 a0001c0004t0001g0095	5	46	0.1087	19	c.334 others(38): Show c.334-70173_334-70172insCATATAATATAATATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799812	T T	TATATATA others(12): Show TATATATATTATATAATATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	42	0.0238	19	c.334 others(38): Show c.334-70167_334-70166insATATAATATATATTATATA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80799820	T T	TTATATAA others(12): Show TTATATAATATAATATATAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	96	0.0104	19	c.334 others(38): Show c.334-70167_334-70166insATATAATATATAATATATA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80937312	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18950.hp1 HG02735.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0019 a0001c0004t0001g0095 a0001c0001t0001g0019 a0001c0004t0001g0095	2	37	0.0541	19	c.477 others(36): Show c.477-7494_477-7476dupTTTTTTTTTTTTTTTTTTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(12): Show ACCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	182	0.0055	19	c.143 others(36): Show c.143+1240_143+1241insGGGGGGGGGGGGGGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP43_chr10_104124888_104237364	104125855	T T	TCGGTCGC others(12): Show TCGGTCGCTGCTGTGGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	304	0.0033	19	c.42 others(30): Show c.4283_*4284insCAGACCACAGCAGCGACCG	CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding		4032		chr10	TogoVar
CFAP44_chr3_113281930_113446493	113324042	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19088.hp2 HG01891.hp2 NA19088.hp2	a0005 a0015 a0005 a0015	a0005c0005 a0015c0024 a0005c0005 a0015c0024	a0005c0005t0010 a0015c0024t0024 a0005c0005t0010 a0015c0024t0024	a0005c0005t0010g0019 a0015c0024t0024g0278 a0005c0005t0010g0019 a0015c0024t0024g0278	2	265	0.0075	19	c.451 others(38): Show c.4516+2402_4516+2403insTTTTTTTTTTTTTTTTTTT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	28/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113328695	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0035 a0003c0007t0035	a0003c0007t0035g0053 a0003c0007t0035g0053	1	109	0.0092	19	c.411 others(36): Show c.4117-877_4117-876insTTTTTTTTTTTTTTTTTTT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	26/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113433429	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0120 a0002c0002t0005g0120	1	109	0.0092	19	c.100 others(34): Show c.100+117_100+135dupTTTTTTTTTTTTTTTTTTT	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	2/34			chr3	TogoVar
CFAP45_chr1_159867364_159905165	159873849	C C	CCTTCCTT others(12): Show CCTTCCTTCCTTCTTCCTTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp1 HG01258.hp2 others(20): Show HG00621.hp2 HG00738.hp1 HG01258.hp2 HG02056.hp1 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02738.hp1 HG02976.hp2 HG03516.hp2 HG03834.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18949.hp1 NA18951.hp2 NA18971.hp1 NA19000.hp2 NA19007.hp1 NA19010.hp1 NA19078.hp2 NA19083.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0124 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0255 a0003c0004t0001g0011	23	178	0.1292	19	c.135 others(36): Show c.1353-700_1353-682dupCAAGGAAGAAGGAAGGAAG	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	10/11			chr1	TogoVar
CFAP45_chr1_159867364_159905165	159878753	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01074.hp1 others(25): Show HG00558.hp1 HG00558.hp2 HG01074.hp1 HG01074.hp2 HG01168.hp1 HG01346.hp2 HG01943.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02523.hp1 HG02738.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 NA18941.hp2 NA18948.hp1 NA18959.hp1 NA18962.hp2 NA18969.hp2 NA18992.hp1 NA19010.hp1 NA19067.hp1 NA19074.hp1 NA19075.hp1 NA19086.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0016 a0001c0001 a0016c0016	a0001c0001t0001 a0016c0016t0001 a0001c0001t0001 a0016c0016t0001	a0001c0001t0001g0007 a0001c0001t0001g0041 a0001c0001t0001g0058 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0041 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0197 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0273 a0016c0016t0001g0254	28	60	0.4667	19	c.104 others(38): Show c.1045-1310_1045-1292dupTTTTTTTTTTTTTTTTTTT	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	8/11			chr1	TogoVar
CFAP46_chr10_132803392_132947570	132820598	A A	ACTGATGT others(12): Show ACTGATGTGTGCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02615.hp1 others(2): Show HG02258.hp1 HG02572.hp2 HG02615.hp1 HG02809.hp2 HG03486.hp2	a0010 a0010	a0010c0011 a0010c0072 a0010c0011 a0010c0072	a0010c0011t0001 a0010c0072t0002 a0010c0011t0001 a0010c0072t0002	a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 others(2): Show a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 a0010c0072t0002g0004	5	243	0.0206	19	c.711 others(38): Show c.7118-5703_7118-5685dupCACACACAGCACACATCAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132822711	A A	ATGTGTGC others(12): Show ATGTGTGCTGATGTGTGCTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02109.hp2 HG02886.hp1 others(1): Show HG00733.hp2 HG02109.hp2 HG02886.hp1 HG03017.hp1	a0031 a0044 a0052 others(1): Show a0031 a0044 a0052 a0054	a0031c0101 a0044c0102 a0052c0037 others(1): Show a0031c0101 a0044c0102 a0052c0037 a0054c0105	a0031c0101t0002 a0044c0102t0002 a0052c0037t0001 others(1): Show a0031c0101t0002 a0044c0102t0002 a0052c0037t0001 a0054c0105t0001	a0031c0101t0002g0022 a0044c0102t0002g0019 a0052c0037t0001g0230 others(1): Show a0031c0101t0002g0022 a0044c0102t0002g0019 a0052c0037t0001g0230 a0054c0105t0001g0239	4	244	0.0164	19	c.711 others(38): Show c.7118-7816_7118-7798dupCAGCACACATCAGCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132887433	T T	TTCCTCTC others(12): Show TTCCTCTCCCCTCTTCTCTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0057 a0057	a0057c0104 a0057c0104	a0057c0104t0001 a0057c0104t0001	a0057c0104t0001g0236 a0057c0104t0001g0236	1	244	0.0041	19	c.330 others(38): Show c.3305-1493_3305-1475dupGAGAGAAGAGGGGAGAGGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132887600	T T	TTCTCTCC others(12): Show TTCTCTCCTCTCCCTTCTTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0146 a0009c0018t0001g0146	1	95	0.0105	19	c.330 others(38): Show c.3305-1642_3305-1641insGAAGAAGGGAGAGGAGAGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP52_chr17_9571642_9648447	9629496	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp1 HG02280.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0273 a0001c0002t0001g0010 a0001c0002t0001g0273	2	280	0.0071	19	c.117 others(36): Show c.1174+678_1174+679insCTTTCTTTCTTTCTTTCTT	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631028	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0294 a0003c0003t0001g0294	1	169	0.0059	19	c.117 others(38): Show c.1175-1860_1175-1859insGAGAGAGAGAGAGAGAGAG	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13			chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631048	G G	GAGAAGAA others(12): Show GAGAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0159 a0002c0001t0001g0159	1	220	0.0045	19	c.117 others(38): Show c.1175-1837_1175-1836insAGAAAGAAAGAAAGAAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP52_chr17_9571642_9648447	9631052	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	78	0.0128	19	c.117 others(38): Show c.1175-1833_1175-1832insGAGAGAGAGAGAGAGAAGA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP53_chr18_50222193_50271495	50237329	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18949.hp2 HG02615.hp1 NA18949.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0211 a0002c0002t0001g0120 a0001c0001t0001g0211 a0002c0002t0001g0120	2	52	0.0385	19	c.131 others(38): Show c.1316+1273_1316+1274insATATATATATATTTTTTTT	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/7			chr18	TogoVar

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