Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
CERS3_chr15_100395395_100533950	100401169	T T	TCCTGTGG others(28): Show TCCTGTGGCCCCCCCCCCCCCTCCCCCCCCCCCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0301 a0001c0001t0023g0301	1	360	0.0028	35	c.15 others(46): Show c.1543_*1544insGGAGGGGGGGGGGGAGGGGGGGGGGGGGCCACAG G	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	12/12	1543		chr15	TogoVar
CERS4_chr19_8204370_8267421	8266863	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	55	0.0182	35	c.47 others(46): Show c.4754_*4755insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding		4443		chr19	TogoVar
CERS5_chr12_50124289_50172369	50156437	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0045 a0002c0003t0003g0045	1	274	0.0036	35	c.197 others(54): Show c.197+10663_197+10664insTATATATATATATATATATATATATA TATATATAT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168631813	T T	TTATTATA others(28): Show TTATTATATATTATATAATATATATTATATAATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02976.hp2 HG06807.hp1 others(2): Show HG02257.hp2 HG02976.hp2 HG06807.hp1 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0037 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0037 a0001c0002t0002 a0001c0002t0028	a0001c0001t0001g0120 a0001c0001t0008g0083 a0001c0001t0037g0084 others(2): Show a0001c0001t0001g0120 a0001c0001t0008g0083 a0001c0001t0037g0084 a0001c0002t0002g0076 a0001c0002t0028g0075	5	174	0.0287	35	c.465 others(50): Show c.465+786_465+820dupTAATATATATTATATAATATATATTATATA TTATA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERT1_chr5_75372775_75516629	75393602	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	9	0.1111	35	c.118 others(54): Show c.1189-3916_1189-3915insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	11/16			chr5	TogoVar
CES5A_chr16_55841154_55880373	55854531	C C	CTTTCTGT others(28): Show CTTTCTGTTTTCTTTCTTTTTTTTTTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0360 a0007c0020t0001g0360	1	276	0.0036	35	c.112 others(54): Show c.1126-1504_1126-1503insAAAAAAAGAAAAAAAAAAAAGAAAGA AAACAGAAA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	9/12			chr16	TogoVar
CFAP144_chr1_43142904_43161396	43151035	A A	ATTTTTAA others(28): Show ATTTTTAAAAGATGGACATACTCAATTATAACTGTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	394	0.0025	35	c.193 others(50): Show c.193+216_193+250dupTTTTTAAAAGATGGACATACTCAATTATAA CTGTC	CFAP144	ENSG00000186973.11	transcript	ENST00000335282.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP251_chr12_121913592_122008919	121966171	T T	TCCCTCCC others(28): Show TCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0065 a0004c0010t0001g0065	1	350	0.0029	35	c.249 others(52): Show c.2493-765_2493-764insTCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP298_chr21_32594354_32617377	32611339	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19000.hp2 NA18973.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0052 a0001c0001t0003g0053 a0001c0001t0001g0052 a0001c0001t0003g0053	2	346	0.0058	35	c.139 others(50): Show c.139+765_139+766insATATATATATATATATATATATATATATAT ATATA	CFAP298	ENSG00000159079.19	transcript	ENST00000290155.8	protein_coding	1/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44334517	A A	ACCCCCCC others(28): Show ACCCCCCCTCAACCTCTGGGCGGGCACGCGCACCCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG01081.hp2 others(29): Show HG00544.hp2 HG00735.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02148.hp1 HG02273.hp1 HG02300.hp2 HG02602.hp2 HG02735.hp1 HG02809.hp2 HG03017.hp2 HG03492.hp1 HG03654.hp1 HG03831.hp2 HG04115.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18962.hp1 NA18966.hp2 NA18968.hp2 NA19009.hp1 NA19062.hp2 NA19080.hp2 NA19084.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004 a0003c0012 a0006c0009	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0005t0031 a0002c0003t0002 a0003c0004t0002 a0003c0012t0001 a0006c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0077 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0008g0209 a0001c0002t0002g0242 a0001c0002t0002g0255 a0001c0005t0031g0246 a0002c0003t0002g0048 a0003c0004t0002g0022 a0003c0004t0002g0237 a0003c0004t0002g0267 a0003c0012t0001g0122 a0006c0009t0001g0093	32	213	0.1502	35	c.143 others(52): Show c.143+1240_143+1241insGGGGTGCGCGTGCCCGCCCAGAGGTTGA GGGGGGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	3/6			chr21	TogoVar
CFAP410_chr21_44323944_44344390	44338773	C C	CCCCGCCC others(28): Show CCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0065 a0001c0002t0010g0065	1	429	0.0023	35	c.77+ others(48): Show c.77+310_77+344dupACGAGGGCGGAGCCGGAGGGAGGAGCCGGGGC GGG	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	1/6			chr21	TogoVar
CFAP45_chr1_159867364_159905165	159873849	C C	CCTTCCTT others(28): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCCTTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01074.hp1 others(7): Show HG00438.hp1 HG00438.hp2 HG01074.hp1 HG02809.hp1 HG02970.hp2 NA18747.hp1 NA18747.hp2 NA19001.hp2 NA19054.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0157 others(5): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0222	10	165	0.0606	35	c.135 others(52): Show c.1353-682_1353-681insCAAGGAAGAAGGAAGGAAGGAAGGAAGG AAGGAAG	CFAP45	ENSG00000213085.10	transcript	ENST00000368099.9	protein_coding	10/11			chr1	TogoVar
CFAP46_chr10_132803392_132947570	132827904	A A	AGCGTAAT others(28): Show AGCGTAATCCTTCTGAGTGAGCCCCGTCACCCCTCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG03130.hp2 HG02055.hp2 HG02258.hp2 HG03130.hp2	a0008 a0009 a0023 a0008 a0009 a0023	a0008c0009 a0009c0018 a0023c0100 a0008c0009 a0009c0018 a0023c0100	a0008c0009t0001 a0009c0018t0001 a0023c0100t0002 a0008c0009t0001 a0009c0018t0001 a0023c0100t0002	a0008c0009t0001g0124 a0009c0018t0001g0228 a0023c0100t0002g0018 a0008c0009t0001g0124 a0009c0018t0001g0228 a0023c0100t0002g0018	3	244	0.0123	35	c.711 others(54): Show c.7117+5419_7117+5453dupCGAGGGGTGACGGGGCTCACTCAGAA GGATTACGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132880630	A A	AGGGCCCC others(28): Show AGGGCCCCTGCAGAGGACAGCACTGAGACACGTCAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA20129.hp1 HG03710.hp1 NA20129.hp1	a0029 a0029	a0029c0034 a0029c0103 a0029c0034 a0029c0103	a0029c0034t0002 a0029c0103t0002 a0029c0034t0002 a0029c0103t0002	a0029c0034t0002g0021 a0029c0103t0002g0079 a0029c0034t0002g0021 a0029c0103t0002g0079	2	122	0.0164	35	c.379 others(52): Show c.3799+196_3799+230dupCTGACGTGTCTCAGTGCTGTCCTCTGCA GGGGCCC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	28/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132880651	A A	ACTGAGAC others(28): Show ACTGAGACACGTCAGGGGCCCCTGCAGAGGACAGCG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp1 HG01891.hp2 others(9): Show HG01069.hp1 HG01243.hp1 HG01891.hp2 HG02280.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG03453.hp1 HG03486.hp1 NA18906.hp1 NA20300.hp2	a0016 a0022 a0025 others(5): Show a0016 a0022 a0025 a0026 a0032 a0047 a0049 a0064	a0016c0026 a0016c0094 a0022c0078 others(7): Show a0016c0026 a0016c0094 a0022c0078 a0022c0081 a0025c0041 a0026c0016 a0032c0106 a0047c0070 a0049c0082 a0064c0109	a0016c0026t0002 a0016c0094t0001 a0022c0078t0002 others(7): Show a0016c0026t0002 a0016c0094t0001 a0022c0078t0002 a0022c0081t0002 a0025c0041t0001 a0026c0016t0001 a0032c0106t0002 a0047c0070t0002 a0049c0082t0002 a0064c0109t0002	a0016c0026t0002g0097 a0016c0026t0002g0099 a0016c0094t0001g0118 others(9): Show a0016c0026t0002g0097 a0016c0026t0002g0099 a0016c0094t0001g0118 a0022c0078t0002g0031 a0022c0081t0002g0098 a0025c0041t0001g0143 a0026c0016t0001g0145 a0026c0016t0001g0147 a0032c0106t0002g0102 a0047c0070t0002g0008 a0049c0082t0002g0100 a0064c0109t0002g0104	12	240	0.0500	35	c.379 others(52): Show c.3799+209_3799+210insCGCTGTCCTCTGCAGGGGCCCCTGACGT GTCTCAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	28/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132880686	A A	ACTGAGAC others(28): Show ACTGAGACACGTCAGGGGCCCCTGCAGAGGACAGCG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01891.hp1 HG03225.hp2 others(1): Show HG01123.hp1 HG01891.hp1 HG03225.hp2 HG06807.hp2	a0015 a0037 a0015 a0037	a0015c0022 a0015c0061 a0037c0064 a0015c0022 a0015c0061 a0037c0064	a0015c0022t0001 a0015c0061t0001 a0037c0064t0001 a0015c0022t0001 a0015c0061t0001 a0037c0064t0001	a0015c0022t0001g0211 a0015c0022t0001g0212 a0015c0061t0001g0210 others(1): Show a0015c0022t0001g0211 a0015c0022t0001g0212 a0015c0061t0001g0210 a0037c0064t0001g0218	4	222	0.0180	35	c.379 others(52): Show c.3799+140_3799+174dupCGCTGTCCTCTGCAGGGGCCCCTGACGT GTCTCAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	28/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132880696	G G	GTCAGGGG others(28): Show GTCAGGGGCTCCTGCAGAGGACAGCGCTGAGACACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA19004.hp2 NA20905.hp2 HG01261.hp1 NA19004.hp2 NA20905.hp2	a0009 a0019 a0075 a0009 a0019 a0075	a0009c0043 a0019c0027 a0075c0098 a0009c0043 a0019c0027 a0075c0098	a0009c0043t0001 a0019c0027t0002 a0075c0098t0002 a0009c0043t0001 a0019c0027t0002 a0075c0098t0002	a0009c0043t0001g0209 a0019c0027t0002g0026 a0075c0098t0002g0023 a0009c0043t0001g0209 a0019c0027t0002g0026 a0075c0098t0002g0023	3	233	0.0129	35	c.379 others(52): Show c.3799+164_3799+165insTGTGTCTCAGCGCTGTCCTCTGCAGGAG CCCCTGA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	28/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132917898	T T	TGCACCTC others(28): Show TGCACCTCAGCACCGATGAACCCCCCTCTCCACGAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00738.hp1 others(6): Show HG00323.hp2 HG00597.hp1 HG00738.hp1 HG01069.hp1 HG01192.hp2 HG02145.hp1 HG02602.hp1 NA18940.hp1 NA18967.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0013 a0032 a0045 a0070	a0001c0001 a0002c0002 a0007c0008 others(4): Show a0001c0001 a0002c0002 a0007c0008 a0013c0014 a0032c0106 a0045c0107 a0070c0108	a0001c0001t0002 a0002c0002t0001 a0007c0008t0002 others(4): Show a0001c0001t0002 a0002c0002t0001 a0007c0008t0002 a0013c0014t0002 a0032c0106t0002 a0045c0107t0002 a0070c0108t0002	a0001c0001t0002g0087 a0002c0002t0001g0155 a0007c0008t0002g0076 others(6): Show a0001c0001t0002g0087 a0002c0002t0001g0155 a0007c0008t0002g0076 a0013c0014t0002g0082 a0013c0014t0002g0083 a0013c0014t0002g0084 a0032c0106t0002g0102 a0045c0107t0002g0103 a0070c0108t0002g0094	9	210	0.0429	35	c.198 others(52): Show c.1986+460_1986+494dupGTCGTGGAGAGGGGGGTTCATCGGTGCT GAGGTGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132936312	C C	CGATCTCC others(28): Show CGATCTCCTCACTCCCCTCACATCCAAACACACTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02280.hp1 HG02630.hp1 HG01069.hp2 HG02280.hp1 HG02630.hp1	a0012 a0033 a0047 a0012 a0033 a0047	a0012c0025 a0033c0074 a0047c0070 a0012c0025 a0033c0074 a0047c0070	a0012c0025t0002 a0033c0074t0002 a0047c0070t0002 a0012c0025t0002 a0033c0074t0002 a0047c0070t0002	a0012c0025t0002g0007 a0033c0074t0002g0006 a0047c0070t0002g0008 a0012c0025t0002g0007 a0033c0074t0002g0006 a0047c0070t0002g0008	3	243	0.0123	35	c.755 others(50): Show c.755+614_755+648dupACAGTGTGTTTGGATGTGAGGGGAGTGAGG AGATC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132942356	T T	TCCGGGGC others(28): Show TCCGGGGCCTCCCCGGGGCGGGGATCGTGGCGGGTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(114): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18945.hp1 NA18953.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA19007.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19066.hp2 NA19067.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1	a0002 a0004 a0005 others(35): Show a0002 a0004 a0005 a0009 a0010 a0011 a0012 a0015 a0018 a0020 a0021 a0024 a0025 a0026 a0027 a0028 a0030 a0034 a0035 a0037 a0038 a0041 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0059 a0061 a0062 a0065 a0066 a0069 a0072 a0073 a0074	a0002c0002 a0002c0003 a0002c0023 others(50): Show a0002c0002 a0002c0003 a0002c0023 a0002c0045 a0002c0054 a0004c0005 a0004c0019 a0004c0038 a0004c0052 a0005c0006 a0005c0013 a0005c0039 a0005c0047 a0009c0018 a0009c0043 a0010c0011 a0011c0010 a0012c0076 a0015c0022 a0015c0061 a0018c0020 a0020c0024 a0021c0033 a0024c0017 a0025c0041 a0025c0042 a0026c0016 a0027c0036 a0027c0060 a0028c0058 a0028c0062 a0030c0056 a0034c0057 a0035c0035 a0037c0064 a0038c0066 a0041c0077 a0052c0037 a0053c0063 a0054c0105 a0055c0075 a0056c0059 a0057c0104 a0058c0048 a0059c0044 a0061c0049 a0062c0051 a0065c0040 a0066c0046 a0069c0050 a0072c0053 a0073c0055 a0074c0065	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(51): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0045t0001 a0002c0054t0001 a0004c0005t0001 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0005c0006t0001 a0005c0013t0001 a0005c0039t0001 a0005c0047t0001 a0009c0018t0001 a0009c0043t0001 a0010c0011t0001 a0011c0010t0001 a0012c0076t0001 a0015c0022t0001 a0015c0061t0001 a0018c0020t0001 a0020c0024t0001 a0021c0033t0001 a0021c0033t0004 a0024c0017t0001 a0025c0041t0001 a0025c0042t0001 a0026c0016t0001 a0027c0036t0001 a0027c0060t0001 a0028c0058t0001 a0028c0062t0001 a0030c0056t0001 a0034c0057t0001 a0035c0035t0001 a0037c0064t0001 a0038c0066t0001 a0041c0077t0001 a0052c0037t0001 a0053c0063t0001 a0054c0105t0001 a0055c0075t0001 a0056c0059t0001 a0057c0104t0001 a0058c0048t0001 a0059c0044t0001 a0061c0049t0001 a0062c0051t0001 a0065c0040t0001 a0066c0046t0001 a0069c0050t0001 a0072c0053t0001 a0073c0055t0001 a0074c0065t0001	a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0137 others(114): Show a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0160 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0179 a0002c0002t0001g0185 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0207 a0002c0002t0001g0219 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0136 a0002c0003t0001g0159 a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0177 a0002c0003t0001g0178 a0002c0003t0001g0180 a0002c0003t0001g0182 a0002c0003t0001g0184 a0002c0003t0001g0188 a0002c0023t0001g0198 a0002c0023t0001g0204 a0002c0045t0001g0191 a0002c0054t0001g0138 a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0224 a0004c0005t0001g0225 a0004c0005t0001g0227 a0004c0019t0001g0158 a0004c0019t0001g0233 a0004c0038t0001g0194 a0004c0052t0001g0169 a0005c0006t0001g0129 a0005c0006t0001g0132 a0005c0006t0001g0133 a0005c0006t0001g0192 a0005c0006t0001g0205 a0005c0006t0001g0206 a0005c0013t0001g0140 a0005c0013t0001g0151 a0005c0013t0001g0152 a0005c0039t0001g0139 a0005c0047t0001g0150 a0009c0018t0001g0146 a0009c0018t0001g0228 a0009c0043t0001g0209 a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 a0011c0010t0001g0186 a0011c0010t0001g0187 a0011c0010t0001g0193 a0011c0010t0001g0213 a0012c0076t0001g0131 a0015c0022t0001g0211 a0015c0022t0001g0212 a0015c0061t0001g0210 a0018c0020t0001g0202 a0018c0020t0001g0203 a0020c0024t0001g0215 a0020c0024t0001g0216 a0021c0033t0001g0237 a0021c0033t0004g0238 a0024c0017t0001g0197 a0024c0017t0001g0201 a0025c0041t0001g0143 a0025c0042t0001g0141 a0026c0016t0001g0145 a0026c0016t0001g0147 a0027c0036t0001g0144 a0027c0060t0001g0148 a0028c0058t0001g0208 a0028c0062t0001g0214 a0030c0056t0001g0163 a0034c0057t0001g0234 a0035c0035t0001g0135 a0037c0064t0001g0218 a0038c0066t0001g0232 a0041c0077t0001g0127 a0052c0037t0001g0230 a0053c0063t0001g0217 a0054c0105t0001g0239 a0055c0075t0001g0235 a0056c0059t0001g0142 a0057c0104t0001g0236 a0058c0048t0001g0226 a0059c0044t0001g0183 a0061c0049t0001g0154 a0062c0051t0001g0157 a0065c0040t0001g0149 a0066c0046t0001g0181 a0069c0050t0001g0156 a0072c0053t0001g0173 a0073c0055t0001g0164 a0074c0065t0001g0231	117	243	0.4815	35	c.49+ others(46): Show c.49+79_49+80insGACCCGCCACGATCCCCGCCCCGGGGAGGCCCCG G	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	1/57			chr10	TogoVar
CFAP54_chr12_96484577_96880555	96825423	T T	TTATATAT others(28): Show TTATATATAATATATGTTATATTATATATAATATAA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0007 a0007	a0007c0056 a0007c0056	a0007c0056t0001 a0007c0056t0001	a0007c0056t0001g0045 a0007c0056t0001g0045	1	238	0.0042	35	c.909 others(54): Show c.9097-3586_9097-3585insATAATATATGTTATATTATATATAAT ATAATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP61_chr20_20047532_20365698	20254011	T T	TCCCTCCT others(28): Show TCCCTCCTCTCCCCTTTCCTCCCCTCCACTCCCCTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp1 HG01099.hp1 others(12): Show HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01168.hp1 HG01256.hp1 HG01346.hp2 HG01517.hp2 HG01884.hp2 HG02071.hp1 HG02080.hp1 HG02630.hp2 HG03490.hp1 NA18962.hp2 NA18966.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0006t0001 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0006t0001 a0002c0002t0001 a0002c0004t0001 a0002c0004t0006	a0001c0001t0002g0200 a0001c0001t0003g0095 a0001c0006t0001g0220 others(12): Show a0001c0001t0002g0200 a0001c0001t0003g0095 a0001c0006t0001g0220 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0179 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0004t0001g0215 a0002c0004t0006g0020	15	165	0.0909	35	c.232 others(54): Show c.2328+2325_2328+2359dupTCTCCCCTTTCCTCCCCTCCACTCCC CTCCCCTCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20254112	C C	CCCTCCCC others(28): Show CCCTCCCCTCCTCTCCCCTTTCCTCCCCTCCACTCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	234	0.0043	35	c.232 others(54): Show c.2328+2359_2328+2360insTCTCCCCTTTCCTCCCCTCCACTCAC CTCCCCTCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP70_chr10_73248762_73363864	73362980	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02145.hp2 HG00735.hp1 HG02145.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0003 a0003c0003t0002g0012 a0003c0003t0002g0003 a0003c0003t0002g0012	2	127	0.0157	35	c.-42 others(46): Show c.-4243_-4242insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding		4117		chr10	TogoVar
CFAP74_chr1_1916957_2008786	1981642	A A	ACAGCCGC others(28): Show ACAGCCGCGGACAGACACGGGGGCACGCAGGACACC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0002 a0012c0024t0002	a0012c0024t0002g0126 a0012c0024t0002g0126	1	259	0.0039	35	c.500 others(52): Show c.500+3743_500+3744insGGTGTCCTGCGTGCCCCCGTGTCTGTCC GCGGCTG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1981763	G G	GCGGGGGC others(28): Show GCGGGGGCACGCAGGACACCCAACCGCGGACAGACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02257.hp1 HG02572.hp2 others(10): Show HG01099.hp1 HG02257.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 NA18970.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0009 a0017 a0044	a0001c0013 a0001c0035 a0001c0097 others(6): Show a0001c0013 a0001c0035 a0001c0097 a0002c0020 a0002c0022 a0005c0083 a0009c0023 a0017c0034 a0044c0092	a0001c0013t0001 a0001c0035t0002 a0001c0097t0002 others(6): Show a0001c0013t0001 a0001c0035t0002 a0001c0097t0002 a0002c0020t0001 a0002c0022t0001 a0005c0083t0001 a0009c0023t0001 a0017c0034t0001 a0044c0092t0001	a0001c0013t0001g0141 a0001c0013t0001g0142 a0001c0035t0002g0121 others(10): Show a0001c0013t0001g0141 a0001c0013t0001g0142 a0001c0035t0002g0121 a0001c0097t0002g0085 a0002c0020t0001g0130 a0002c0022t0001g0016 a0005c0083t0001g0035 a0009c0023t0001g0030 a0009c0023t0001g0036 a0009c0023t0001g0081 a0017c0034t0001g0076 a0017c0034t0001g0140 a0044c0092t0001g0037	13	276	0.0471	35	c.500 others(52): Show c.500+3622_500+3623insTGTCTGTCCGCGGTTGGGTGTCCTGCGT GCCCCCG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1981820	A A	ACCGCGGA others(28): Show ACCGCGGACAGACACGGGGGCACGCAGGACACCCAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01943.hp1 HG01952.hp1 others(3): Show HG01358.hp2 HG01943.hp1 HG01952.hp1 NA18969.hp1 NA18981.hp1 NA20752.hp2	a0002 a0042 a0046 a0002 a0042 a0046	a0002c0001 a0042c0078 a0046c0080 a0002c0001 a0042c0078 a0046c0080	a0002c0001t0001 a0042c0078t0001 a0046c0080t0001 a0002c0001t0001 a0042c0078t0001 a0046c0080t0001	a0002c0001t0001g0152 a0002c0001t0001g0179 a0002c0001t0001g0187 others(3): Show a0002c0001t0001g0152 a0002c0001t0001g0179 a0002c0001t0001g0187 a0002c0001t0001g0215 a0042c0078t0001g0132 a0046c0080t0001g0240	6	18	0.3333	35	c.500 others(52): Show c.500+3531_500+3565dupCTGGGTGTCCTGCGTGCCCCCGTGTCTG TCCGCGG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	6/38			chr1	TogoVar
CFAP77_chr9_132405211_132578319	132438541	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	217	0.0046	35	c.195 others(54): Show c.195+28076_195+28077insATATATATATATATATATATATATAT ATATATTTT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132438541	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0188 a0001c0004t0002g0188	1	217	0.0046	35	c.195 others(54): Show c.195+28076_195+28077insATATATATATATATATATATATATTT TTTTTTTTT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTTATATA others(28): Show TTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	17	0.0588	35	c.153 others(52): Show c.153-3352_153-3351insTATATATATATATATATATATATATATA TATATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97D1_chr17_43775435_43792620	43790700	G G	GGAGGGGG others(28): Show GGAGGGGGGGGGGGGGGGGGGGGGGGGGGGACGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	400	0.0025	35	c.63 others(46): Show c.6318_*6319insGAGGGGGGGGGGGGGGGGGGGGGGGGGGGACGGG C	CFAP97D1	ENSG00000231256.8	transcript	ENST00000449302.8	protein_coding		3081		chr17	TogoVar
CFAP99_chr4_2413955_2468002	2466647	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	60	0.0167	35	c.37 others(46): Show c.3721_*3722insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3646		chr4	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	203	0.0049	35	c.651 others(54): Show c.651-44501_651-44500insATATATATATATATATATATATATAT ATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18979.hp2 NA18984.hp2 NA18946.hp2 NA18979.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0075 a0001c0002t0001g0099 a0001c0002t0001g0029 a0001c0002t0001g0075 a0001c0002t0001g0099	3	123	0.0244	35	c.651 others(54): Show c.651-44503_651-44502insATATATATATATATATATATATATAT ATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	55	0.0182	35	c.651 others(54): Show c.651-44505_651-44504insATATATATATATATATATATATATAT ATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349688	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	28	0.0357	35	c.651 others(54): Show c.651-44507_651-44506insATATATATATATATATATATATATAT ATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349690	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	13	0.0769	35	c.651 others(54): Show c.651-44509_651-44508insATATATATATATATATATATATATAT ATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(28): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA19009.hp2 HG01358.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0013 a0001c0002t0002 a0001c0002t0013	a0001c0002t0002g0001 a0001c0002t0013g0092 a0001c0002t0002g0001 a0001c0002t0013g0092	2	196	0.0102	35	c.-12 others(52): Show c.-12+1922_-12+1923insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116924	T T	TCTCTCTC others(28): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01517.hp2 HG04199.hp2 HG01070.hp1 HG01517.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0148 a0001c0001t0001g0256 a0001c0001t0001g0257	3	315	0.0095	35	c.-12 others(52): Show c.-12+1921_-12+1922insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	44	0.0227	35	c.104 others(50): Show c.104-412_104-411insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0082 a0002c0002t0011g0082	1	119	0.0084	35	c.54- others(50): Show c.54-6049_54-6048insATATATATATATATATATATATATATATAT ATTTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18947.hp1 HG02080.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0296 a0001c0001t0002g0299	2	122	0.0164	35	c.853 others(52): Show c.853-4721_853-4720insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHD8_chr14_21380199_21461123	21454162	A A	AAAAAGAA others(28): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	54	0.0185	35	c.-21 others(54): Show c.-216+1835_-216+1869dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTT	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37			chr14	TogoVar
CHFR_chr12_132827356_132892605	132835863	T T	TAGGCTCC others(28): Show TAGGCTCCCAGCACAGCGCACGGCACTCACAGTGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00609.hp2 others(58): Show HG00323.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp2 HG00741.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01496.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02165.hp1 HG02165.hp2 HG02486.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02895.hp1 HG02922.hp1 HG03209.hp1 HG03516.hp2 NA18522.hp2 NA18747.hp2 NA18943.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp2 NA18968.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19058.hp1 NA19065.hp2 NA19083.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 others(26): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0026 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0098 a0001c0001t0104 a0001c0001t0106 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0115 a0001c0001t0116	a0001c0001t0007g0044 a0001c0001t0007g0234 a0001c0001t0007g0252 others(52): Show a0001c0001t0007g0044 a0001c0001t0007g0234 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0007g0275 a0001c0001t0007g0286 a0001c0001t0007g0307 a0001c0001t0009g0004 a0001c0001t0009g0236 a0001c0001t0009g0249 a0001c0001t0009g0259 a0001c0001t0009g0301 a0001c0001t0009g0303 a0001c0001t0014g0005 a0001c0001t0014g0276 a0001c0001t0014g0277 a0001c0001t0014g0278 a0001c0001t0015g0233 a0001c0001t0015g0241 a0001c0001t0015g0243 a0001c0001t0015g0291 a0001c0001t0015g0295 a0001c0001t0015g0297 a0001c0001t0016g0232 a0001c0001t0016g0244 a0001c0001t0016g0245 a0001c0001t0016g0246 a0001c0001t0016g0299 a0001c0001t0026g0020 a0001c0001t0026g0269 a0001c0001t0040g0248 a0001c0001t0040g0264 a0001c0001t0041g0251 a0001c0001t0041g0300 a0001c0001t0043g0022 a0001c0001t0078g0240 a0001c0001t0079g0235 a0001c0001t0080g0247 a0001c0001t0081g0242 a0001c0001t0083g0289 a0001c0001t0084g0262 a0001c0001t0085g0296 a0001c0001t0087g0267 a0001c0001t0092g0283 a0001c0001t0093g0268 a0001c0001t0094g0292 a0001c0001t0095g0290 a0001c0001t0098g0250 a0001c0001t0104g0237 a0001c0001t0106g0254 a0001c0001t0108g0260 a0001c0001t0109g0255 a0001c0001t0110g0230 a0001c0001t0115g0231 a0001c0001t0116g0266	61	346	0.1763	35	c.56 others(46): Show c.5690_*5691insGGCACTGTGAGTGCCGTGCGCTGTGCTGGGAGCC T	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5690		chr12	TogoVar
CHFR_chr12_132827356_132892605	132835863	T T	TAGGCTCC others(28): Show TAGGCTCCCAGCACAGCGCACGGCCCTCACAGTGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02965.hp2 HG02818.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0096 a0001c0001t0089 a0001c0001t0096	a0001c0001t0089g0045 a0001c0001t0096g0282 a0001c0001t0089g0045 a0001c0001t0096g0282	2	287	0.0070	35	c.56 others(46): Show c.5690_*5691insGGCACTGTGAGGGCCGTGCGCTGTGCTGGGAGCC T	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5690		chr12	TogoVar
CHFR_chr12_132827356_132892605	132835863	T T	TAGGCTCC others(28): Show TAGGCTCCCAGCACGGCGCACGGCACTCACAGTGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG02027.hp2 others(3): Show HG00558.hp1 HG00597.hp1 HG02027.hp2 HG02071.hp1 HG02083.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0082 a0001c0001t0103 others(1): Show a0001c0001t0007 a0001c0001t0082 a0001c0001t0103 a0001c0001t0105	a0001c0001t0007g0021 a0001c0001t0007g0306 a0001c0001t0082g0270 others(2): Show a0001c0001t0007g0021 a0001c0001t0007g0306 a0001c0001t0082g0270 a0001c0001t0103g0271 a0001c0001t0105g0288	6	291	0.0206	35	c.56 others(46): Show c.5656_*5690dupGGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCC T	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5690		chr12	TogoVar
CHFR_chr12_132827356_132892605	132835932	A A	ACAGGCTC others(28): Show ACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0045 a0001c0001t0089g0045	1	346	0.0029	35	c.56 others(46): Show c.5621_*5622insGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT G	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5621		chr12	TogoVar
CHFR_chr12_132827356_132892605	132835962	C C	CAGTGCCA others(28): Show CAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0134 a0002c0002t0134	a0002c0002t0134g0082 a0002c0002t0134g0082	1	375	0.0027	35	c.55 others(46): Show c.5591_*5592insCTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCAC T	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5591		chr12	TogoVar
CHFR_chr12_132827356_132892605	132835967	A A	ACAGGCTC others(28): Show ACAGGCTCCCAGCACGGCGCACGGCACTCACAGTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG03453.hp1 HG01109.hp2 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0048 a0002c0002t0048g0050 a0002c0002t0048g0048 a0002c0002t0048g0050	2	216	0.0093	35	c.55 others(46): Show c.5586_*5587insGCACTGTGAGTGCCGTGCGCCGTGCTGGGAGCCT G	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5586		chr12	TogoVar
CHFR_chr12_132827356_132892605	132835997	G G	GAGTGCCA others(28): Show GAGTGCCAGGCTCCCAGCACGGCGCACGGCACTCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0135 a0002c0002t0135	a0002c0002t0135g0069 a0002c0002t0135g0069	1	227	0.0044	35	c.55 others(46): Show c.5522_*5556dupGTGAGTGCCGTGCGCCGTGCTGGGAGCCTGGCAC T	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5556		chr12	TogoVar

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