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
CFAP74_chr1_1916957_2008786	1928300	C C	CCGGGAAG others(25): Show CCGGGAAGGGCAAACCCTTGGGAGGAAGCCAGG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0040 a0040	a0040c0038 a0040c0038	a0040c0038t0003 a0040c0038t0003	a0040c0038t0003g0251 a0040c0038t0003g0251	1	276	0.0036	32	c.338 others(49): Show c.3387+452_3387+483dupCCTGGCTTCCTCCCAAGGGTTTGCCCTT CCCG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	27/38			chr1	TogoVar
CFAP77_chr9_132405211_132578319	132486018	A A	ATATATAT others(25): Show ATATATATATATATGTATATGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	314	0.0032	32	c.196 others(51): Show c.196-12664_196-12663insGTATATGTATGTGTGTGTGTATATAT ATATAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486020	A A	ATATATAT others(25): Show ATATATATATATATGTATATGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03540.hp1 HG02622.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0179 a0001c0001t0001g0139 a0001c0001t0001g0179	2	314	0.0064	32	c.196 others(51): Show c.196-12662_196-12661insGTATATGTATGTGTGTGTGTATATAT ATATAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP90_chr5_7825378_7856133	7833284	C C	CACATGCA others(25): Show CACATGCATGTACACACATATGTACACACATGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0016 a0004c0004t0016	a0004c0004t0016g0167 a0004c0004t0016g0167	1	418	0.0024	32	c.265 others(49): Show c.265-1287_265-1256dupACATGTGTGTACATATGTGTGTACATGC ATGT	CFAP90	ENSG00000215217.7	transcript	ENST00000399810.7	protein_coding	2/2			chr5	TogoVar
CFAP91_chr3_119698022_119772102	119707732	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19079.hp2 HG03453.hp2 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0027 a0001c0002 a0003c0027	a0001c0002t0002 a0003c0027t0031 a0001c0002t0002 a0003c0027t0031	a0001c0002t0002g0097 a0003c0027t0031g0100 a0001c0002t0002g0097 a0003c0027t0031g0100	2	289	0.0069	32	c.359 others(47): Show c.359+188_359+189insTATATATATATATATATATATATATATATA TA	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP95_chr9_69815817_69911227	69841164	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA20300.hp1 HG03209.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0314 a0001c0001t0001g0131 a0001c0001t0001g0314	2	18	0.1111	32	c.153 others(49): Show c.153-3352_153-3351insTTATATATATATATATATATATATATAT ATAT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97D2_chr13_114174257_114228085	114225443	G G	GAGGGAAA others(25): Show GAGGGAAAGGGGGAGGGGAGGGAGGGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	397	0.0025	32	c.29 others(43): Show c.2936_*2937insAGGGAAAGGGGGAGGGGAGGGAGGGGGAGGGA	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding		2359		chr13	TogoVar
CFAP99_chr4_2413955_2468002	2466647	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01516.hp2 HG01517.hp1 others(28): Show HG00639.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01975.hp2 HG02015.hp1 HG02056.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02559.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp2 HG03579.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18946.hp2 NA18948.hp2 NA18953.hp2 NA18966.hp1 NA18968.hp1 NA18995.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0010 a0014	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0003c0013 a0005c0006 a0010c0018 a0014c0016	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0003c0004t0001 a0003c0013t0001 a0005c0006t0001 a0010c0018t0001 a0014c0016t0001	a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0037 others(27): Show a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0074 a0001c0001t0001g0107 a0001c0001t0001g0254 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0310 a0001c0003t0001g0046 a0001c0003t0001g0166 a0001c0003t0001g0195 a0001c0003t0001g0204 a0001c0003t0001g0207 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0304 a0001c0003t0002g0047 a0001c0003t0002g0049 a0002c0002t0001g0008 a0002c0002t0001g0272 a0002c0002t0001g0282 a0002c0002t0001g0285 a0003c0004t0001g0296 a0003c0013t0001g0064 a0005c0006t0001g0158 a0010c0018t0001g0193 a0014c0016t0001g0075	31	90	0.3444	32	c.37 others(43): Show c.3721_*3722insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3646		chr4	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	203	0.0049	32	c.651 others(51): Show c.651-44501_651-44500insATATATATATATATATATATATATAT ATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	121	0.0083	32	c.651 others(51): Show c.651-44503_651-44502insATATATATATATATATATATATATAT ATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 NA19003.hp2 HG01515.hp1 HG01517.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0002t0001g0076 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0002t0001g0076	3	57	0.0526	32	c.651 others(51): Show c.651-44505_651-44504insATATATATATATATATATATATATAT ATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349696	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	308	0.0032	32	c.651 others(51): Show c.651-44515_651-44514insGTATATATATATATATATATATATAT ATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	224	0.0045	32	c.651 others(51): Show c.651-44517_651-44516insGTATATATATATATATATATATATAT ATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFD_chr19_854664_868641	864042	C C	CCACACAC others(25): Show CCACACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	164	0.0061	32	c.80 others(41): Show c.804_*805insCACACACACACACACACACACACACACACACA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		402		chr19	TogoVar
CFD_chr19_854664_868641	864060	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACACACGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	209	0.0048	32	c.82 others(41): Show c.822_*823insCACACACACACACACACACACACACACACGCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		420		chr19	TogoVar
CFHR4_chr1_196883052_196923633	196885491	A A	ATATATAT others(25): Show ATATATATGATATATATATTATATATTTATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02145.hp2 HG02451.hp2 others(21): Show HG01192.hp2 HG02145.hp2 HG02451.hp2 HG02622.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19007.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0007c0008	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0007c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0148 a0001c0001t0001g0160 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0033 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0169 a0003c0003t0001g0003 a0007c0008t0001g0171	24	348	0.0690	32	c.-26 others(43): Show c.-2660_-2659insTATATATGATATATATATTATATATTTATATT	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding		2560		chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(25): Show TATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	136	0.0074	32	c.151 others(49): Show c.1519+752_1519+753insTATATATATATATAGAGAGAGAGAGAGA GAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109752882	A A	ATATAATA others(25): Show ATATAATATATATTTATTATATAAATAAATATT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03195.hp1 HG03453.hp2 others(1): Show HG03041.hp2 HG03195.hp1 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0330 a0001c0001t0003g0153 a0001c0002t0001g0112 others(1): Show a0001c0001t0001g0330 a0001c0001t0003g0153 a0001c0002t0001g0112 a0001c0002t0001g0121	4	352	0.0114	32	c.905 others(47): Show c.905-411_905-380dupAATATTTATTTATATAATAAATATATATTA TA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109752890	T T	TATATTTA others(25): Show TATATTTATTATATAAATAAATATTTATAATAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0290 a0007c0013t0001g0290	1	352	0.0028	32	c.905 others(47): Show c.905-388_905-387insGTATTATAAATATTTATTTATATAATAAAT AT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753005	T T	TTATATAT others(25): Show TTATATATTTATTATATAAATAAATATTTATAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(52): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG01081.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01891.hp1 HG01928.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02896.hp1 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03491.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18950.hp2 NA18952.hp1 NA18965.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18999.hp1 NA19056.hp1 NA19060.hp1 NA19077.hp2 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(48): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0303 a0001c0001t0001g0311 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0002g0332 a0001c0001t0003g0013 a0001c0001t0003g0334 a0001c0001t0003g0335 a0002c0003t0001g0248 a0002c0003t0001g0299 a0002c0003t0001g0305 a0002c0003t0001g0308 a0002c0003t0001g0310 a0002c0003t0001g0313 a0002c0003t0001g0314 a0002c0003t0001g0317 a0003c0004t0001g0297	55	328	0.1677	32	c.905 others(47): Show c.905-534_905-503dupTTATAAATATTTATTTATATAATAAATATA TA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753099	C C	CAAATATT others(25): Show CAAATATTTATAATATATATTTATTATATAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02896.hp2 others(2): Show HG02257.hp1 HG02630.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0030 others(2): Show a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0030 a0003c0004t0001g0032 a0003c0004t0001g0157	5	93	0.0538	32	c.905 others(47): Show c.905-628_905-597dupATTTATATAATAAATATATATTATAAATAT TT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(25): Show TAATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0280 a0001c0002t0003g0280	1	298	0.0034	32	c.58- others(49): Show c.58-16988_58-16987insTATATATATATATATATATATATATATA TATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFTR_chr7_117475025_117673665	117612023	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0170 a0008c0010t0001g0170	1	86	0.0116	32	c.336 others(49): Show c.3367+244_3367+245insGTATATATATATATATATATATATATAT ATAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp2 HG02647.hp2 others(5): Show HG01099.hp2 HG01261.hp2 HG02647.hp2 HG02683.hp1 HG03490.hp1 NA18993.hp1 NA19080.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0003 a0002c0002t0014	a0001c0001t0001g0248 a0001c0001t0001g0258 a0001c0001t0002g0216 others(5): Show a0001c0001t0001g0248 a0001c0001t0001g0258 a0001c0001t0002g0216 a0001c0001t0004g0003 a0001c0001t0004g0250 a0001c0001t0004g0254 a0002c0002t0003g0243 a0002c0002t0014g0153	8	189	0.0423	32	c.-16 others(51): Show c.-16+17537_-16+17538insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GGAAAAAA others(25): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02071.hp1 HG01071.hp2 HG02071.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0008 a0001c0005 a0002c0008	a0001c0005t0001 a0002c0008t0003 a0001c0005t0001 a0002c0008t0003	a0001c0005t0001g0245 a0002c0008t0003g0013 a0001c0005t0001g0245 a0002c0008t0003g0013	2	18	0.1111	32	c.169 others(49): Show c.1698-191_1698-190insGAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18			chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18979.hp2 NA20752.hp1 HG02738.hp1 NA18979.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0017 a0001c0001t0001 a0001c0002t0017	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0002t0017g0294 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0002t0017g0294	3	159	0.0189	32	c.-12 others(49): Show c.-12+1943_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02818.hp2 HG03195.hp1 others(2): Show HG00099.hp1 HG02818.hp2 HG03195.hp1 NA18959.hp1 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0091 others(2): Show a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0091 a0001c0002t0002g0108 a0001c0002t0008g0015	5	199	0.0251	32	c.-12 others(49): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAC2_chr2_53762804_53780196	53773321	C C	CAAGATAT others(25): Show CAAGATATTACAAAGATATTACAAGATATTGCA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20129.hp2 HG02145.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	424	0.0047	32	c.172 others(47): Show c.172-821_172-820insAAGATATTACAAAGATATTACAAGATATTG CA	CHAC2	ENSG00000143942.5	transcript	ENST00000295304.5	protein_coding	2/2			chr2	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0286 a0001c0003t0009g0286	1	11	0.0909	32	c.960 others(49): Show c.960+1906_960+1907insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	145	0.0069	32	c.260 others(49): Show c.260-1750_260-1749insTGTGTGTGTGTGCGCGCGCGCGCGCGCG CGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHD2_chr15_92895324_93032996	93015570	A A	ACAGTTTA others(25): Show ACAGTTTATGTAAGGGGAGAAAATATTACCAAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp2 HG01099.hp2 others(10): Show HG00735.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01255.hp1 HG01496.hp2 HG01943.hp2 HG02148.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 NA18956.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0259 a0001c0001t0006g0253 a0001c0001t0006g0260 others(10): Show a0001c0001t0001g0259 a0001c0001t0006g0253 a0001c0001t0006g0260 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0270	13	304	0.0428	32	c.490 others(49): Show c.4906+663_4906+694dupAGTTTATGTAAGGGGAGAAAATATTACC AACC	CHD2	ENSG00000173575.24	transcript	ENST00000394196.9	protein_coding	37/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHD3_chr17_7883789_7917755	7885283	T T	TCCCCTCC others(25): Show TCCCCTCCCCCGCCGCACCCCTCCCCCGCCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	364	0.0027	32	c.-37 others(43): Show c.-3718_-3717insCCCCTCCCCCGCCGCACCCCTCCCCCGCCGCA	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3505		chr17	TogoVar
CHD4_chr12_6565082_6612379	6568035	A A	AACTCACT others(25): Show AACTCACTCAGCACTCCCGACTCAGCACCCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 NA19043.hp2 HG02572.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0266 a0001c0002t0001g0268	2	372	0.0054	32	c.26 others(43): Show c.2609_*2640dupCGCGGGTGCTGAGTCGGGAGTGCTGAGTGAGT	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding		2046		chr12	TogoVar
CHD6_chr20_41397083_41623377	41432160	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0008 a0008c0011t0008	a0008c0011t0008g0006 a0008c0011t0008g0006	1	197	0.0051	32	c.406 others(51): Show c.4068+5113_4068+5114insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	27/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41437873	A A	ATGAGAAT others(25): Show ATGAGAATGAGACACTGAGAATGAGAATGAGAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03516.hp1 HG02622.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0321 a0001c0001t0001g0223 a0001c0001t0001g0321	2	322	0.0062	32	c.400 others(49): Show c.4008-540_4008-539insATCTCATTCTCATTCTCAGTGTCTCATT CTCA	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	26/36			chr20	TogoVar
CHD7_chr8_60673740_60873028	60821630	G G	GTATATGT others(25): Show GTATATGTATAAACATATATATACACATACATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19000.hp1 HG03130.hp2 NA19000.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0035 a0001c0001 a0009c0035	a0001c0001t0002 a0009c0035t0010 a0001c0001t0002 a0009c0035t0010	a0001c0001t0002g0115 a0009c0035t0010g0219 a0001c0001t0002g0115 a0009c0035t0010g0219	2	233	0.0086	32	c.269 others(49): Show c.2698-133_2698-102dupTACATATATATGTATAAACATATATATA CACA	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	9/37		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD9NB_chr16_53036484_53057897	53047635	C C	CTTAATTG others(25): Show CTTAATTGCCTCCATAAAGTCTCTATCTCCAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0133 a0001c0001t0050g0133	1	404	0.0025	32	c.-18 others(49): Show c.-184-384_-184-353dupTTTGGAGATAGAGACTTTATGGAGGCAA TTAA	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	1/2			chr16	TogoVar
CHD9_chr16_53049991_53332497	53146413	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0049 a0001c0005t0005g0049	1	228	0.0044	32	c.-16 others(51): Show c.-164-9512_-164-9511insATATATATATATATATATATATATAT ATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02976.hp1 HG03453.hp1 others(1): Show HG00558.hp1 HG02976.hp1 HG03453.hp1 NA18992.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0004 a0001c0001 a0001c0008 a0003c0004	a0001c0001t0001 a0001c0008t0001 a0003c0004t0001 a0001c0001t0001 a0001c0008t0001 a0003c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0070 a0001c0008t0001g0094 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0070 a0001c0008t0001g0094 a0003c0004t0001g0128	4	37	0.1081	32	c.-16 others(51): Show c.-164-9489_-164-9488insTATATATATATATATATATATATATA TATATA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTAT others(25): Show GTATGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG02080.hp2 others(9): Show HG00735.hp1 HG01109.hp1 HG02080.hp2 HG02300.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 NA18939.hp1 NA18974.hp1 NA18981.hp1 NA18982.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0016 a0001c0001 a0001c0003 a0001c0016	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0016t0002	a0001c0001t0001g0025 a0001c0001t0001g0211 a0001c0003t0001g0152 others(9): Show a0001c0001t0001g0025 a0001c0001t0001g0211 a0001c0003t0001g0152 a0001c0003t0002g0040 a0001c0003t0002g0063 a0001c0003t0002g0065 a0001c0003t0002g0090 a0001c0003t0002g0103 a0001c0003t0002g0118 a0001c0003t0002g0137 a0001c0003t0002g0155 a0001c0016t0002g0150	12	45	0.2667	32	c.-16 others(51): Show c.-164-9504_-164-9503insGTATATATATATATATATATATATAT ATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146436	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	228	0.0044	32	c.-16 others(51): Show c.-164-9489_-164-9488insTATATATATATATATATATATATATA TATAAA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHEK2_chr22_28682743_28746820	28729540	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0369 a0001c0002t0001g0369	1	101	0.0099	32	c.320 others(49): Show c.320-4174_320-4173insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28740851	G G	GATTCCCA others(25): Show GATTCCCAAAAATAAGCGAAGTGCTCATTCCGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	382	0.0026	32	c.-7+ others(45): Show c.-7+917_-7+918insACGGAATGAGCACTTCGCTTATTTTTGGGAAT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	1/14			chr22	TogoVar
CHIC1_chrX_73558197_73692111	73655432	G G	GTATATAT others(25): Show GTATATATATACATATATACACAATATTGTGTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0100 a0001c0001t0010g0100	1	90	0.0111	32	c.508 others(51): Show c.508-23811_508-23780dupCACAATATTGTGTATATATATATACA TATATA	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHIC1_chrX_73558197_73692111	73655483	C C	CACAATAT others(25): Show CACAATATTGTGTATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02055.hp1 others(6): Show HG01167.hp1 HG01169.hp2 HG02055.hp1 HG02451.hp2 HG02615.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(6): Show a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0181	9	193	0.0466	32	c.508 others(51): Show c.508-23812_508-23811insTACAATATTGTGTATATATATATACA TATATA	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHIC1_chrX_73558197_73692111	73655515	C C	CACAATAT others(25): Show CACAATATTGTGTATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp2 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0084 a0001c0001t0002g0085	2	184	0.0109	32	c.508 others(51): Show c.508-23791_508-23760dupTATACATATATATACAATATTGTGTA TATATA	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHIC1_chrX_73558197_73692111	73655515	C C	CACAATAT others(25): Show CACAATATTGTGTATATATGTATACATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	183	0.0055	32	c.508 others(51): Show c.508-23793_508-23792insGTATACATATATATACAATATTGTGT ATATAT	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHIC1_chrX_73558197_73692111	73655537	T T	CACATATA others(25): Show CACATATATATACAATATTGTGTATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	206	0.0049	32	c.508 others(51): Show c.508-23790_508-23789insCACATATATATACAATATTGTGTATA TATATA	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5			chrX	TogoVar
CHID1_chr11_862859_915810	877717	T T	TGGCACTG others(25): Show TGGCACTGTGGGGAGGCGGGGCCTTTAGAAGGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	380	0.0026	32	c.959 others(49): Show c.959+5399_959+5430dupGCCTTCTAAAGGCCCCGCCTCCCCACAG TGCC	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12			chr11	TogoVar
CHID1_chr11_862859_915810	877783	G G	GCACTGTG others(25): Show GCACTGTGGGGAGGCGGGGCCTTTAGAAGGCGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00733.hp2 others(25): Show HG00140.hp1 HG00544.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02257.hp2 HG02486.hp1 HG02809.hp2 HG02976.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG04199.hp2 HG04228.hp1 NA18967.hp1 NA19002.hp2 NA19065.hp1 NA19065.hp2 NA19085.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0100 a0001c0001t0001g0162 a0001c0001t0002g0019 others(23): Show a0001c0001t0001g0100 a0001c0001t0001g0162 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0002g0062 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0190 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0313 a0001c0001t0002g0314 a0002c0002t0001g0291 a0002c0002t0002g0155 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0002g0039 a0003c0003t0002g0099 a0003c0003t0002g0154 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0002g0161	28	177	0.1582	32	c.959 others(49): Show c.959+5333_959+5364dupTCGCCTTCTAAAGGCCCCGCCTCCCCAC AGTG	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12			chr11	TogoVar

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