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
CERCAM_chr9_128415857_128442347	128437864	CATACACG others(21): Show CATACACGTATATACACGTATATACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0137	1	386	0.0026	-28	c.10 others(39): Show c.1017_*1044delATACACGTATATACACGTATATACACAT	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		518		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437907	GTATATAC others(21): Show GTATATACACATACACGTATATACACGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG02258.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0052 a0001c0002t0001g0042 a0001c0002t0001g0052	2	398	0.0050	-28	c.10 others(39): Show c.1060_*1087delTATATACACATACACGTATATACACGTA	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		561		chr9	TogoVar
CERKL_chr2_181531672_181662105	181641328	TATATATA others(21): Show TATATATATATATATATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18906.hp1 NA18906.hp2 others(1): Show HG02132.hp2 NA18906.hp1 NA18906.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0002t0001	a0001c0001t0002g0228 a0001c0001t0006g0269 a0001c0001t0012g0180 others(1): Show a0001c0001t0002g0228 a0001c0001t0006g0269 a0001c0001t0012g0180 a0001c0002t0001g0049	4	296	0.0135	-28	c.238 others(47): Show c.238+15413_238+15440delGTATATATATGTATATATATATATAT AT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERKL_chr2_181531672_181662105	181650103	GAGGGAGG others(21): Show GAGGGAGGGAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp1 HG06807.hp1 HG02257.hp1 HG02970.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0054 a0001c0002t0001g0090 a0001c0002t0001g0091	3	226	0.0133	-28	c.238 others(45): Show c.238+6638_238+6665delTCCTTCCTTCCTTCCTTCCTCCCTCCCT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERK_chr22_46679410_46743252	46702223	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	118	0.0085	-28	c.716 others(43): Show c.716-541_716-514delCACACACACACACACACACACACACACA	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding	6/12			chr22	TogoVar
CERS6_chr2_168451272_168780134	168746775	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG03130.hp2 others(1): Show HG02451.hp2 HG02559.hp2 HG03130.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0029 a0001c0001t0010 a0001c0004t0029	a0001c0001t0010g0065 a0001c0001t0010g0166 a0001c0001t0010g0167 others(1): Show a0001c0001t0010g0065 a0001c0001t0010g0166 a0001c0001t0010g0167 a0001c0004t0029g0005	4	92	0.0435	-28	c.846 others(47): Show c.846-18798_846-18771delTATATATATATATATATATATATATA TA	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERT1_chr5_75372775_75516629	75375607	AAATAAAT others(21): Show AAATAAATAAATAAATAAATAAATAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03579.hp2 HG02486.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0020 a0001c0002t0019 a0001c0002t0020	a0001c0002t0019g0007 a0001c0002t0020g0008 a0001c0002t0019g0007 a0001c0002t0020g0008	2	334	0.0060	-28	c.37 others(39): Show c.3711_*3738delATTTTATTTATTTATTTATTTATTTATT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding		2167		chr5	TogoVar
CERT1_chr5_75372775_75516629	75388595	CATGCATA others(21): Show CATGCATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02056.hp1 HG02132.hp1 others(3): Show HG02027.hp1 HG02056.hp1 HG02132.hp1 HG02135.hp1 NA18962.hp1 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0321 a0001c0002t0009g0322 a0001c0002t0009g0323 others(3): Show a0001c0002t0009g0321 a0001c0002t0009g0322 a0001c0002t0009g0323 a0001c0002t0009g0324 a0001c0002t0009g0325 a0001c0002t0009g0326	6	334	0.0180	-28	c.128 others(45): Show c.1284+969_1284+996delATATATATATATATATATATATATGCAT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	12/16			chr5	TogoVar
CES1_chr16_55797851_55838096	55798424	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	17	0.0588	-28	c.45 others(39): Show c.4597_*4624delTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding		4426		chr16	TogoVar
CES1_chr16_55797851_55838096	55836477	GGTTTTGC others(21): Show GGTTTTGCCTGGGTCTGGCTGCAGCCTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	86	0.0116	-28	c.-34 others(39): Show c.-3450_-3423delAGAGGCTGCAGCCAGACCCAGGCAAAAC	CES1	ENSG00000198848.13	transcript	ENST00000360526.8	protein_coding		3382		chr16	TogoVar
CFAP100_chr3_126389909_126441556	126401397	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02040.hp2 HG02129.hp1 others(11): Show HG00609.hp1 HG02040.hp2 HG02129.hp1 HG02135.hp2 HG03209.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18952.hp2 NA18957.hp2 NA19003.hp2 NA19007.hp1 NA19062.hp2 NA19090.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0001c0001t0003 a0007c0011t0002 a0001c0001t0001 a0001c0001t0003 a0007c0011t0002	a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0309 others(11): Show a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0327 a0001c0001t0001g0353 a0001c0001t0003g0163 a0007c0011t0002g0369	14	72	0.1944	-28	c.49+ others(43): Show c.49+5367_49+5394delTATATATATATATATATATATATATATA	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP100_chr3_126389909_126441556	126436647	GCAAGAGC others(21): Show GCAAGAGCATGACACCTTGGTTCCCATCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	420	0.0024	-28	c.24 others(37): Show c.244_*271delCAAGAGCATGACACCTTGGTTCCCATCT	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding		92		chr3	TogoVar
CFAP141_chr1_154194085_154211333	154203172	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp1 others(31): Show HG00423.hp1 HG00423.hp2 HG00558.hp1 HG01169.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03491.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18942.hp2 NA18972.hp1 NA18981.hp1 NA18984.hp2 NA19030.hp2 NA19080.hp2 NA19089.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0031 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113	34	62	0.5484	-28	c.74+ others(43): Show c.74+2398_74+2425delATATATATATATATATATATATATATAT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar
CFAP161_chr15_81129270_81154179	81133176	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01261.hp1 HG01081.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0200 a0001c0001t0001g0052 a0001c0001t0001g0200	2	300	0.0067	-28	c.-11 others(39): Show c.-1153_-1126delATATATATATATATATATATATATATAT	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1093		chr15	TogoVar
CFAP251_chr12_121913592_122008919	121998432	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02683.hp1 others(3): Show HG01168.hp1 HG01169.hp2 HG02683.hp1 HG02738.hp2 HG02809.hp1 HG03195.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001	a0001c0005t0001g0276 a0001c0005t0001g0277 a0001c0005t0001g0278 others(3): Show a0001c0005t0001g0276 a0001c0005t0001g0277 a0001c0005t0001g0278 a0001c0005t0001g0286 a0001c0005t0003g0349 a0001c0006t0001g0304	6	12	0.5000	-28	c.300 others(47): Show c.3007-1255_3007-1228delATATATATATATATATATATATATAT AT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP276_chr1_109100951_109117747	109113392	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAAAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01074.hp1 HG01106.hp2 others(9): Show HG01070.hp2 HG01074.hp1 HG01106.hp2 HG01346.hp2 HG01361.hp1 HG01993.hp2 HG02004.hp2 HG02273.hp2 HG02293.hp1 NA18992.hp1 NA18999.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0023 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0060	12	368	0.0326	-28	c.-74 others(37): Show c.-741_-714delCTCTTTCTCTCTCTCTCTCTCTCTCTCT	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		646		chr1	TogoVar
CFAP299_chr4_80330730_80968750	80550760	AACACACA others(21): Show AACACACACACACACACACACACACGCAC	A A	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	35	0.0286	-28	c.243 others(47): Show c.243-32322_243-32295delACACACACACACACGCACACACACAC AC	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80800557	TTATATAA others(21): Show TTATATAATATATTAATATAAATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03017.hp2 HG02615.hp1 HG03017.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0008 a0002c0002 a0003c0008	a0002c0002t0001 a0003c0008t0001 a0002c0002t0001 a0003c0008t0001	a0002c0002t0001g0001 a0003c0008t0001g0085 a0002c0002t0001g0001 a0003c0008t0001g0085	2	65	0.0308	-28	c.334 others(47): Show c.334-69374_334-69347delAATATATTAATATAAATATATAATAT AT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP300_chr11_102042437_102089554	102056589	GGGGTTTT others(21): Show GGGGTTTTTTGTTTGTTTGTTTGTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	344	0.0029	-28	c.193 others(45): Show c.193-2264_193-2237delTTGGGTTTTTTGTTTGTTTGTTTGTTTT	CFAP300	ENSG00000137691.13	transcript	ENST00000434758.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP46_chr10_132803392_132947570	132804181	GCCCTGTC others(21): Show GCCCTGTCCCCTCGGCCCTGTCCCCACGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02486.hp1 HG03130.hp1 others(1): Show HG01261.hp1 HG02486.hp1 HG03130.hp1 HG03453.hp2	a0008 a0009 a0012 others(1): Show a0008 a0009 a0012 a0055	a0008c0097 a0009c0043 a0012c0076 others(1): Show a0008c0097 a0009c0043 a0012c0076 a0055c0075	a0008c0097t0001 a0009c0043t0001 a0012c0076t0001 others(1): Show a0008c0097t0001 a0009c0043t0001 a0012c0076t0001 a0055c0075t0001	a0008c0097t0001g0120 a0009c0043t0001g0209 a0012c0076t0001g0131 others(1): Show a0008c0097t0001g0120 a0009c0043t0001g0209 a0012c0076t0001g0131 a0055c0075t0001g0235	4	125	0.0320	-28	c.42 others(39): Show c.4212_*4239delACGTGGGGACAGGGCCGAGGGGACAGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding		4210		chr10	TogoVar
CFAP46_chr10_132803392_132947570	132824748	CTGTGTGA others(21): Show CTGTGTGAGTGCTGATGTGTGCTGTATGT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0067 a0067	a0067c0090 a0067c0090	a0067c0090t0002 a0067c0090t0002	a0067c0090t0002g0041 a0067c0090t0002g0041	1	244	0.0041	-28	c.711 others(47): Show c.7117+8582_7117+8609delACATACAGCACACATCAGCACTCACA CA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888742	CCCTGCCA others(21): Show CCCTGCCACCTTCACCCCTGCCGCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18960.hp2 HG01081.hp2 NA18960.hp2	a0011 a0034 a0011 a0034	a0011c0010 a0034c0057 a0011c0010 a0034c0057	a0011c0010t0001 a0034c0057t0001 a0011c0010t0001 a0034c0057t0001	a0011c0010t0001g0193 a0034c0057t0001g0234 a0011c0010t0001g0193 a0034c0057t0001g0234	2	215	0.0093	-28	c.330 others(47): Show c.3305-2811_3305-2784delTGCAGGCGGCAGGGGTGAAGGTGGCA GG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132930343	CACAGAGC others(21): Show CACAGAGCCTGGGCCTTCCTCCTCCCCAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02615.hp1 others(2): Show HG02258.hp1 HG02572.hp2 HG02615.hp1 HG02809.hp2 HG03453.hp2	a0010 a0012 a0010 a0012	a0010c0011 a0012c0076 a0010c0011 a0012c0076	a0010c0011t0001 a0012c0076t0001 a0010c0011t0001 a0012c0076t0001	a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 others(2): Show a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 a0012c0076t0001g0131	5	244	0.0205	-28	c.867 others(43): Show c.867-567_867-540delATGGGGAGGAGGAAGGCCCAGGCTCTGT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	8/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132931379	CAGAGCCT others(21): Show CAGAGCCTGGGCCTTCCTCCTCCCCAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0008 a0008	a0008c0097 a0008c0097	a0008c0097t0001 a0008c0097t0001	a0008c0097t0001g0120 a0008c0097t0001g0120	1	244	0.0041	-28	c.867 others(45): Show c.867-1603_867-1576delTTTTGGGGAGGAGGAAGGCCCAGGCTCT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	8/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35924131	GTATATGT others(21): Show GTATATGTGTACATGTATGCGTACATATA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0143 a0011c0012t0001g0143	1	213	0.0047	-28	c.250 others(45): Show c.250-1884_250-1857delATATGTGTACATGTATGCGTACATATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36027086	ATATATAT others(21): Show ATATATATATATGATTATATATATGTGAT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0048 a0048	a0048c0035 a0048c0035	a0048c0035t0001 a0048c0035t0001	a0048c0035t0001g0010 a0048c0035t0001g0010	1	214	0.0047	-28	c.355 others(47): Show c.3557-4143_3557-4116delGTGATTATATATATATGATTATATAT AT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	22/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	36364901	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02630.hp1 others(12): Show HG01884.hp1 HG02109.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02970.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp2 HG03516.hp1 HG06807.hp1 NA18522.hp1 NA21309.hp1	a0005 a0006 a0010 others(2): Show a0005 a0006 a0010 a0015 a0038	a0005c0005 a0005c0015 a0006c0008 others(4): Show a0005c0005 a0005c0015 a0006c0008 a0006c0045 a0010c0072 a0015c0060 a0038c0068	a0005c0005t0001 a0005c0015t0001 a0006c0008t0001 others(4): Show a0005c0005t0001 a0005c0015t0001 a0006c0008t0001 a0006c0045t0001 a0010c0072t0001 a0015c0060t0001 a0038c0068t0001	a0005c0005t0001g0005 a0005c0005t0001g0007 a0005c0005t0001g0008 others(12): Show a0005c0005t0001g0005 a0005c0005t0001g0007 a0005c0005t0001g0008 a0005c0005t0001g0012 a0005c0005t0001g0013 a0005c0005t0001g0185 a0005c0015t0001g0195 a0006c0008t0001g0021 a0006c0008t0001g0022 a0006c0008t0001g0189 a0006c0008t0001g0190 a0006c0045t0001g0186 a0010c0072t0001g0140 a0015c0060t0001g0210 a0038c0068t0001g0135	15	42	0.3571	-28	c.902 others(47): Show c.9024-2049_9024-2022delTATATATATATATATATATATATATA TA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	61/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9596057	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0239 a0001c0002t0001g0239	1	241	0.0041	-28	c.536 others(45): Show c.536+1738_536+1765delGTATATATATATATATATATATATATAT	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP53_chr18_50222193_50271495	50240206	TCCACCCT others(21): Show TCCACCCTGACTCATTCTGATCACCTGCC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02280.hp2 HG03139.hp1 HG01358.hp2 HG02280.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0311 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0311	3	400	0.0075	-28	c.121 others(47): Show c.1214-1529_1214-1502delGGCAGGTGATCAGAATGAGTCAGGGT GG	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	6/7			chr18	TogoVar
CFAP54_chr12_96484577_96880555	96512299	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02559.hp2 HG00280.hp2 HG02559.hp2	a0004 a0007 a0004 a0007	a0004c0005 a0007c0009 a0004c0005 a0007c0009	a0004c0005t0001 a0007c0009t0001 a0004c0005t0001 a0007c0009t0001	a0004c0005t0001g0103 a0007c0009t0001g0104 a0004c0005t0001g0103 a0007c0009t0001g0104	2	167	0.0120	-28	c.740 others(43): Show c.740-685_740-658delTTATATATATATATATATATATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	4/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96704452	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02071.hp2 HG02083.hp1 others(2): Show HG00280.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02451.hp1	a0007 a0036 a0039 a0007 a0036 a0039	a0007c0009 a0007c0087 a0036c0080 others(1): Show a0007c0009 a0007c0087 a0036c0080 a0039c0064	a0007c0009t0001 a0007c0087t0001 a0036c0080t0001 others(1): Show a0007c0009t0001 a0007c0087t0001 a0036c0080t0001 a0039c0064t0001	a0007c0009t0001g0035 a0007c0009t0001g0104 a0007c0087t0001g0178 others(2): Show a0007c0009t0001g0035 a0007c0009t0001g0104 a0007c0087t0001g0178 a0036c0080t0001g0248 a0039c0064t0001g0209	5	31	0.1613	-28	c.647 others(45): Show c.6475-269_6475-242delATATATATATATATATATATATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	46/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP58_chr10_104348833_104460102	104396369	TGAGAGAG others(21): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG02040.hp1 others(21): Show HG00438.hp1 HG00621.hp2 HG02040.hp1 HG02056.hp1 HG02109.hp2 HG02451.hp1 HG02622.hp1 HG02717.hp2 HG03139.hp1 HG03225.hp2 HG03471.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp2 NA18956.hp1 NA18970.hp2 NA18986.hp1 NA19001.hp2 NA19057.hp1 NA19062.hp2 NA19070.hp2 NA19082.hp2 NA19088.hp1 NA19091.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0011 a0013	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005 a0004c0006 a0005c0009 a0007c0015 a0011c0021 a0013c0020	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0003c0005t0001 a0004c0006t0002 a0005c0009t0002 a0007c0015t0002 a0011c0021t0002 a0013c0020t0001	a0001c0001t0001g0071 a0001c0003t0001g0163 a0001c0003t0001g0303 others(21): Show a0001c0001t0001g0071 a0001c0003t0001g0163 a0001c0003t0001g0303 a0001c0003t0002g0053 a0001c0003t0002g0109 a0001c0003t0002g0190 a0001c0003t0002g0281 a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0076 a0002c0002t0002g0088 a0003c0005t0001g0061 a0003c0005t0001g0296 a0004c0006t0002g0129 a0004c0006t0002g0130 a0005c0009t0002g0304 a0007c0015t0002g0183 a0011c0021t0002g0238 a0013c0020t0001g0096	24	70	0.3429	-28	c.167 others(47): Show c.1674+2937_1675-2921delGAGAGAGAGAGAGAGAGAGAGAGAGA GA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP61_chr20_20047532_20365698	20072091	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02922.hp2 others(13): Show HG01891.hp2 HG02572.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0007 a0010 a0022 a0023	a0001c0003 a0001c0023 a0001c0024 others(8): Show a0001c0003 a0001c0023 a0001c0024 a0001c0026 a0002c0022 a0004c0013 a0004c0025 a0007c0010 a0010c0017 a0022c0021 a0023c0029	a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 others(11): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0023t0003 a0001c0024t0008 a0001c0026t0001 a0002c0022t0002 a0004c0013t0002 a0004c0013t0003 a0004c0025t0005 a0007c0010t0003 a0010c0017t0002 a0022c0021t0003 a0023c0029t0003	a0001c0003t0003g0142 a0001c0003t0004g0004 a0001c0003t0007g0016 others(13): Show a0001c0003t0003g0142 a0001c0003t0004g0004 a0001c0003t0007g0016 a0001c0023t0003g0054 a0001c0024t0008g0176 a0001c0026t0001g0141 a0002c0022t0002g0049 a0004c0013t0002g0047 a0004c0013t0003g0048 a0004c0025t0005g0140 a0007c0010t0003g0130 a0007c0010t0003g0131 a0007c0010t0003g0133 a0010c0017t0002g0121 a0022c0021t0003g0046 a0023c0029t0003g0132	16	27	0.5926	-28	c.294 others(45): Show c.294+1101_294+1128delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20106000	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00738.hp1 others(37): Show HG00323.hp1 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01099.hp2 HG01192.hp2 HG01256.hp1 HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02109.hp1 HG02135.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03579.hp1 HG03669.hp1 HG03834.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18943.hp1 NA18945.hp1 NA18951.hp2 NA18962.hp1 NA18971.hp1 NA19081.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0016 a0001 a0002 a0016	a0001c0001 a0001c0003 a0001c0007 others(7): Show a0001c0001 a0001c0003 a0001c0007 a0001c0015 a0001c0024 a0001c0026 a0001c0027 a0002c0004 a0002c0035 a0016c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0007t0002 a0001c0015t0002 a0001c0024t0008 a0001c0026t0001 a0001c0027t0001 a0002c0004t0003 a0002c0035t0001 a0016c0041t0001	a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0169 others(37): Show a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0169 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0236 a0001c0001t0002g0042 a0001c0001t0002g0158 a0001c0001t0002g0173 a0001c0001t0002g0190 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0001t0002g0235 a0001c0001t0003g0124 a0001c0003t0001g0031 a0001c0003t0001g0076 a0001c0003t0001g0097 a0001c0003t0001g0196 a0001c0003t0001g0199 a0001c0003t0001g0202 a0001c0003t0001g0211 a0001c0003t0001g0214 a0001c0003t0001g0221 a0001c0003t0002g0112 a0001c0003t0004g0015 a0001c0007t0002g0222 a0001c0015t0002g0201 a0001c0015t0002g0233 a0001c0024t0008g0176 a0001c0026t0001g0141 a0001c0027t0001g0170 a0002c0004t0003g0207 a0002c0035t0001g0204 a0016c0041t0001g0210	40	117	0.3419	-28	c.859 others(45): Show c.859+7209_859+7236delTATATATATATATATATATATATATATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP70_chr10_73248762_73363864	73284739	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0016 a0002c0006t0001g0016	1	85	0.0118	-28	c.245 others(47): Show c.2450-6430_2450-6403delATATATATATATATATATATATATAT AT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27			chr10	TogoVar
CFAP70_chr10_73248762_73363864	73316463	GATATATA others(21): Show GATATATATATATATATAGATATAGATAT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(51): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG00733.hp1 HG01074.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01978.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02155.hp2 HG02257.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG02809.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03688.hp1 HG03834.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18949.hp1 NA18953.hp2 NA18959.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18978.hp1 NA18986.hp1 NA18992.hp2 NA18993.hp1 NA18999.hp1 NA19002.hp1 NA19009.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19078.hp1 NA19085.hp2	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0002 a0002c0013 a0004c0004 others(1): Show a0002c0002 a0002c0013 a0004c0004 a0009c0014	a0002c0002t0001 a0002c0013t0001 a0004c0004t0001 others(1): Show a0002c0002t0001 a0002c0013t0001 a0004c0004t0001 a0009c0014t0001	a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0030 others(51): Show a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0013t0001g0022 a0004c0004t0001g0020 a0004c0004t0001g0027 a0004c0004t0001g0028 a0009c0014t0001g0055	54	206	0.2621	-28	c.112 others(47): Show c.1123-3848_1123-3821delATATCTATATCTATATATATATATAT AT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	10/27			chr10	TogoVar
CFAP74_chr1_1916957_2008786	1971363	ACACACAC others(21): Show ACACACACGGTCACACATGCACACACGTG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0053 a0001c0003t0001g0053	1	276	0.0036	-28	c.889 others(43): Show c.889-575_889-548delCACGTGTGTGCATGTGTGACCGTGTGTG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	9/38			chr1	TogoVar
CFAP77_chr9_132405211_132578319	132485985	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02735.hp1 HG03831.hp1 others(5): Show HG02647.hp1 HG02735.hp1 HG03831.hp1 NA18946.hp2 NA18951.hp1 NA18970.hp2 NA19091.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0008t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0217 a0001c0002t0001g0026 a0001c0002t0001g0116 others(5): Show a0001c0001t0001g0217 a0001c0002t0001g0026 a0001c0002t0001g0116 a0001c0002t0001g0169 a0001c0002t0001g0218 a0001c0008t0002g0164 a0002c0003t0001g0124 a0002c0003t0002g0229	8	207	0.0386	-28	c.196 others(47): Show c.196-12681_196-12654delATATATATATATATATATATATATAT AT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132486038	ATATGTAT others(21): Show ATATGTATGTATATGTATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03195.hp2 HG02109.hp1 HG03195.hp2	a0001 a0005 a0001 a0005	a0001c0016 a0005c0009 a0001c0016 a0005c0009	a0001c0016t0001 a0005c0009t0002 a0001c0016t0001 a0005c0009t0002	a0001c0016t0001g0143 a0005c0009t0002g0001 a0001c0016t0001g0143 a0005c0009t0002g0001	2	300	0.0067	-28	c.196 others(47): Show c.196-12653_196-12626delGTATGTATATGTATGTGTGTGTGTGT AT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP99_chr4_2413955_2468002	2435807	CCAGCTAC others(21): Show CCAGCTACTCAGGAGGCCGAGGTGGGAAG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0214	1	347	0.0029	-28	c.112 others(44): Show c.112-1013_112-986delAAGCAGCTACTCAGGAGGCCGAGGTGGG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP99_chr4_2413955_2468002	2447916	AATGAATG others(21): Show AATGAATGGATGGGTGGATGGATGGATGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03209.hp1 NA18522.hp1 HG03139.hp1 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0014 a0001c0029 a0001c0014 a0001c0029	a0001c0014t0001 a0001c0029t0001 a0001c0014t0001 a0001c0029t0001	a0001c0014t0001g0128 a0001c0014t0001g0160 a0001c0029t0001g0035 a0001c0014t0001g0128 a0001c0014t0001g0160 a0001c0029t0001g0035	3	348	0.0086	-28	c.643 others(45): Show c.643-1750_643-1723delAATGGATGGGTGGATGGATGGATGGATG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFD_chr19_854664_868641	866195	GCCCTGCC others(21): Show GCCCTGCCTGCCTCGCCCACCCCACTGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	286	0.0035	-28	c.29 others(39): Show c.2958_*2985delCCCTGCCTGCCTCGCCCACCCCACTGTA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2555		chr19	TogoVar
CFH_chr1_196647043_196752504	196692746	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01099.hp1 others(15): Show HG00140.hp1 HG00639.hp2 HG01099.hp1 HG01167.hp2 HG01515.hp1 HG01928.hp2 HG02155.hp2 HG02165.hp1 HG02735.hp1 HG03540.hp1 HG03704.hp1 HG03834.hp2 HG04199.hp1 NA18948.hp2 NA18973.hp1 NA18984.hp2 NA19009.hp2 NA19086.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0044 others(15): Show a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0179 a0001c0001t0001g0197 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0289 a0004c0004t0001g0086	18	97	0.1856	-28	c.133 others(47): Show c.1336+2557_1336+2584delTTCTTTCTTTCTTTCTTTCTTTCTTT CT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109744056	CCATTCTC others(21): Show CCATTCTCTTTAATGATTAAATTTTAAAT	C C	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	352	0.0028	-28	c.143 others(47): Show c.1430-1489_1430-1462delATTTAAAATTTAATCATTAAAGAGAA TG	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	11/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109756888	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03491.hp2 NA18959.hp1 HG03453.hp1 HG03491.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0195 a0001c0002t0001g0123 a0001c0002t0002g0126 a0001c0001t0001g0195 a0001c0002t0001g0123 a0001c0002t0002g0126	3	50	0.0600	-28	c.904 others(43): Show c.904+847_904+874delTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CHADL_chr22_41224513_41245931	41242135	AATATATA others(21): Show AATATATACATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02886.hp2 HG02965.hp1 others(5): Show HG01099.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03486.hp1 NA18522.hp1 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0002 a0002c0003t0002 a0002c0004t0002	a0002c0003t0002g0036 a0002c0003t0002g0204 a0002c0004t0002g0034 others(1): Show a0002c0003t0002g0036 a0002c0003t0002g0204 a0002c0004t0002g0034 a0002c0004t0002g0196	8	400	0.0200	-28	c.-12 others(39): Show c.-1282_-1255delATATATATATATATATATATGTATATAT	CHADL	ENSG00000100399.16	transcript	ENST00000216241.14	protein_coding		1205		chr22	TogoVar
CHADL_chr22_41224513_41245931	41242143	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG01346.hp1 HG02083.hp1 others(9): Show HG00544.hp1 HG01346.hp1 HG02083.hp1 HG02132.hp1 HG03579.hp2 NA18944.hp1 NA18959.hp1 NA18997.hp2 NA19012.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0104 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0194	12	91	0.1319	-28	c.-12 others(39): Show c.-1290_-1263delATATATATATATATATATATATATATAT	CHADL	ENSG00000100399.16	transcript	ENST00000216241.14	protein_coding		1213		chr22	TogoVar
CHAT_chr10_49609037_49672942	49647740	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(39): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01256.hp2 HG01257.hp2 HG01358.hp2 HG01433.hp2 HG01934.hp1 HG02165.hp2 HG02451.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG03239.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04204.hp1 NA18973.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA19058.hp2 NA19063.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0015 others(5): Show a0001c0001 a0001c0005 a0001c0015 a0001c0019 a0001c0030 a0002c0002 a0003c0004 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0005t0009 a0001c0005t0030 a0001c0015t0005 a0001c0015t0009 a0001c0019t0002 a0001c0030t0004 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0003c0004t0004 a0003c0006t0005	a0001c0001t0001g0340 a0001c0001t0001g0348 a0001c0001t0002g0176 others(35): Show a0001c0001t0001g0340 a0001c0001t0001g0348 a0001c0001t0002g0176 a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0004g0062 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0336 a0001c0001t0004g0349 a0001c0001t0007g0001 a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0007g0202 a0001c0001t0007g0210 a0001c0001t0007g0232 a0001c0001t0008g0037 a0001c0001t0008g0180 a0001c0001t0008g0207 a0001c0001t0008g0294 a0001c0005t0009g0247 a0001c0005t0030g0335 a0001c0015t0005g0306 a0001c0015t0009g0245 a0001c0019t0002g0171 a0001c0030t0004g0310 a0002c0002t0002g0080 a0002c0002t0002g0088 a0002c0002t0007g0089 a0002c0002t0007g0102 a0002c0002t0007g0110 a0002c0002t0008g0090 a0002c0002t0008g0091 a0002c0002t0008g0355 a0003c0004t0004g0156 a0003c0006t0005g0125 a0003c0006t0005g0133	42	68	0.6176	-28	c.128 others(45): Show c.1282-724_1282-697delCCTTCCTTCCTTCCTTCCTTCCTTCCTT	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD6_chr3_126699240_126965420	126938746	AGGCTCCC others(21): Show AGGCTCCCTCAGGACTGAGGGGGCTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01255.hp1 HG02004.hp1 others(25): Show HG00408.hp2 HG01255.hp1 HG02004.hp1 HG02015.hp2 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02738.hp2 HG02809.hp1 HG03704.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18954.hp1 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA18983.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19068.hp2 NA19070.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0141 a0002c0002t0001g0002 a0002c0002t0001g0003 others(25): Show a0001c0001t0001g0141 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0074 a0002c0002t0002g0094	28	214	0.1308	-28	c.567 others(47): Show c.567-18662_567-18635delTCAGGACTGAGGGGGCTGTGTGGCTC CC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD9NB_chr16_53036484_53057897	53050595	AACACCTG others(21): Show AACACCTGACAGGGTTTGCAGGTACAATC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0133 a0001c0001t0050g0133	1	404	0.0025	-28	c.-18 others(47): Show c.-185+2138_-185+2165delGATTGTACCTGCAAACCCTGTCAGGT GT	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	1/2			chr16	TogoVar

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